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 KCNAB2 8514 broad.mit.edu 37 1 6145300 6145300 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:6145300A>G uc009vlv.1 + 7 453 c.318A>G c.(316-318)AAA>AAG p.K106K KCNAB2_uc001alv.1_Silent_p.K106K|KCNAB2_uc001alw.1_Silent_p.K92K|KCNAB2_uc001alx.1_Silent_p.K106K|KCNAB2_uc001aly.1_Silent_p.K139K|KCNAB2_uc009vlw.1_Silent_p.K39K|KCNAB2_uc001alu.2_Silent_p.K106K NM_003636 NP_003627 Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related 106 cytoplasm|integral to membrane|juxtaparanode region of axon oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity 0 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649) TTAAGAAGAAAGGATGGAGGT 0.557000 CASZ1 54897 broad.mit.edu 37 1 10713858 10713858 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:10713858A>G uc001aro.2 - 11 2576 c.2256T>C c.(2254-2256)GCT>GCC p.A752A CASZ1_uc001arp.1_Silent_p.A752A|CASZ1_uc009vmx.2_Silent_p.A776A NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 752 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) CAGTGGCGGCAGCCAGGGACG 0.667000 MTOR 2475 broad.mit.edu 37 1 11298633 11298633 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:11298633A>C uc001asd.2 - 12 1949 c.1828T>G c.(1828-1830)TTC>GTC p.F610V NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 610 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 CTGTTCAGGAAATGATCCGCA 0.542000 MTOR 2475 broad.mit.edu 37 1 11303171 11303171 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:11303171T>G uc001asd.2 - 9 1533 c.1412A>C c.(1411-1413)AAG>ACG p.K471T NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 471 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 AGGTGCTTACTTATGGGCGAA 0.512000 MAD2L2 10459 broad.mit.edu 37 1 11736991 11736991 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:11736991T>C uc001asp.2 - 5 434 c.246A>G c.(244-246)AAA>AAG p.K82K MAD2L2_uc009vnc.2_Silent_p.K82K|MAD2L2_uc001asq.3_Silent_p.K82K NM_006341 NP_006332 Q9UI95 MD2L2_HUMAN MAD2 homolog 82 Mediates interaction with REV1 and REV3L and homodimerization.|HORMA. cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex JUN kinase binding 0 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCACCACCACTTTCTCCACAT 0.582000 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage VPS13D 55187 broad.mit.edu 37 1 12313878 12313878 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:12313878T>G uc001atv.2 + 7 805 c.664T>G c.(664-666)TTA>GTA p.L222V VPS13D_uc001atw.2_Missense_Mutation_p.L222V NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 222 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCAGATGGAGTTACAGGTACG 0.488000 NBPF1 55672 broad.mit.edu 37 1 16918430 16918430 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:16918430T>C uc009vos.1 - 7 975 c.87A>G c.(85-87)GCA>GCG p.A29A NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 29 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GTTTGTTCTCTGCCAGCTGGG 0.478000 PADI4 23569 broad.mit.edu 37 1 17666206 17666206 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:17666206A>G uc001baj.2 + 6 578 c.550A>G c.(550-552)ACC>GCC p.T184A PADI4_uc009vpc.2_Missense_Mutation_p.T184A NM_012387 NP_036519 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 184 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GTCGCTGATGACCCTGAGCAC 0.577000 LIN28A 79727 broad.mit.edu 37 1 26752823 26752823 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:26752823C>T uc001bmj.2 + 4 618 c.504C>T c.(502-504)AGC>AGT p.S168S LIN28A_uc001bmi.1_RNA NM_024674 NP_078950 Q9H9Z2 LN28A_HUMAN lin-28 homolog 168 CCHC-type 2. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1) 1 AGAGCATCAGCCATATGGTAG 0.532000 ARID1A 8289 broad.mit.edu 37 1 27105610 27105610 + Nonsense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:27105610C>T uc001bmv.1 + 20 5594 c.5221C>T c.(5221-5223)CAG>TAG p.Q1741* ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1524*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q587*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.Q69*|ARID1A_uc009vsn.1_5'UTR NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1741 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 nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 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) TGACCCAGGACAGAGAACGCT 0.493000 Mis|N|F|S|D clear cell ovarian carcinoma|RCC FGR 2268 broad.mit.edu 37 1 27949577 27949577 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:27949577T>A uc001boj.2 - 2 451 c.305A>T c.(304-306)GAG>GTG p.E102V FGR_uc001bok.2_Missense_Mutation_p.E102V|FGR_uc001bol.2_Missense_Mutation_p.E102V|FGR_uc001bom.2_Missense_Mutation_p.E102V NM_005248 NP_005239 P09769 FGR_HUMAN proto-oncogene tyrosine-protein kinase FGR 102 SH3. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity skin(2) 2 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GTGGAACTTCTCGCCCTTGGT 0.408000 ZSCAN20 7579 broad.mit.edu 37 1 33956645 33956645 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:33956645A>C uc001bxj.3 + 6 954 c.787A>C c.(787-789)AGT>CGT p.S263R ZSCAN20_uc001bxk.2_Missense_Mutation_p.S209R|ZSCAN20_uc009vui.2_Missense_Mutation_p.S263R NM_145238 NP_660281 P17040 ZSC20_HUMAN zinc finger protein 31 263 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TTCAAAACCAAGTAATACCTC 0.423000 ZMYM6 9204 broad.mit.edu 37 1 35453121 35453121 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:35453121A>C uc001byh.2 - 16 3790 c.3562T>G c.(3562-3564)TTT>GTT p.F1188V uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Missense_Mutation_p.F1091V NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 1188 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) AGGTGCTCAAAAATAATCCTT 0.299000 ZMYM4 9202 broad.mit.edu 37 1 35847321 35847321 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:35847321A>G uc001byt.2 + 9 1611 c.1531A>G c.(1531-1533)AAG>GAG p.K511E ZMYM4_uc009vuu.2_Missense_Mutation_p.K479E|ZMYM4_uc001byu.2_Missense_Mutation_p.K187E|ZMYM4_uc009vuv.2_Missense_Mutation_p.K250E NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 511 MYM-type 4. multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ACAGTCTAAGAAGTTTTGTAG 0.418000 TEKT2 27285 broad.mit.edu 37 1 36552352 36552352 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:36552352A>C uc001bzr.2 + 5 663 c.536A>C c.(535-537)AAA>ACA p.K179T TEKT2_uc001bzs.2_Missense_Mutation_p.K85T|ADPRHL2_uc001bzt.2_5'Flank|ADPRHL2_uc001bzu.2_5'Flank NM_014466 NP_055281 Q9UIF3 TEKT2_HUMAN tektin 2 179 cell projection organization|microtubule cytoskeleton organization actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CATCGGGGCAAAATGGAGACA 0.567000 GRIK3 2899 broad.mit.edu 37 1 37337949 37337949 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:37337949A>G uc001caz.2 - 4 707 c.572T>C c.(571-573)CTC>CCC p.L191P GRIK3_uc001cba.1_Missense_Mutation_p.L191P NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 191 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GGCCATGATGAGCTCCTGCAG 0.572000 INPP5B 3633 broad.mit.edu 37 1 38328033 38328033 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:38328033T>G uc001ccg.1 - 24 2790 c.2696A>C c.(2695-2697)AAG>ACG p.K899T INPP5B_uc009vvk.1_3'UTR|MTF1_uc001cce.1_5'Flank|MTF1_uc009vvj.1_5'Flank|INPP5B_uc001ccf.1_Missense_Mutation_p.K735T NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 979 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TTGAGCCTTCTTCTTCTCTGT 0.438000 PABPC4 8761 broad.mit.edu 37 1 40035289 40035289 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:40035289T>C uc010oiv.1 - 5 1614 c.716A>G c.(715-717)GAA>GGA p.E239G PABPC4_uc001cdl.2_Missense_Mutation_p.E239G|PABPC4_uc001cdm.2_Missense_Mutation_p.E239G|SNORA55_uc001cdo.1_5'Flank NM_003819 NP_003810 Q13310 PABP4_HUMAN poly A binding protein, cytoplasmic 4 isoform 2 239 RRM 3. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding 0 Lung NSC(20;1.55e-06)|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;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CTCGTGTTTTTCGTAACTCAC 0.438000 TMCO2 127391 broad.mit.edu 37 1 40717105 40717105 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:40717105T>G uc001cfe.2 + 2 481 c.388T>G c.(388-390)TTG>GTG p.L130V NM_001008740 NP_001008740 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 130 Potential. integral to membrane ovary(1) 1 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) AGAGAAAATTTTGAAAAAACT 0.408000 ZNF684 127396 broad.mit.edu 37 1 41012365 41012365 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:41012365A>C uc001cft.1 + 5 621 c.370A>C c.(370-372)AGT>CGT p.S124R NM_152373 NP_689586 Q5T5D7 ZN684_HUMAN zinc finger protein 684 124 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) TATGAGCACAAGTCTTAATCC 0.303000 HIVEP3 59269 broad.mit.edu 37 1 42048511 42048511 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:42048511T>G uc001cgz.3 - 4 3171 c.1958A>C c.(1957-1959)AAG>ACG p.K653T HIVEP3_uc001cha.3_Missense_Mutation_p.K653T|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 653 C2H2-type 3; degenerate.|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) ATCCCTTTTCTTGTACCGAGC 0.458000 KIAA0467 23334 broad.mit.edu 37 1 43906924 43906924 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:43906924A>C uc001cjk.1 + 38 5149 c.4687A>C c.(4687-4689)ACT>CCT p.T1563P NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2462 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCCCAAAACAACTGATGACAT 0.577000 EIF2B3 8891 broad.mit.edu 37 1 45392349 45392349 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:45392349C>T uc001cmt.1 - 5 644 c.517G>A c.(517-519)GAA>AAA p.E173K EIF2B3_uc001cmu.1_Missense_Mutation_p.E173K|EIF2B3_uc001cmv.1_Missense_Mutation_p.E173K|EIF2B3_uc001cmw.2_Missense_Mutation_p.E173K NM_020365 NP_065098 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, 173 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) AAGTCTGCTTCATTAGCCATG 0.413000 EIF2B3 8891 broad.mit.edu 37 1 45392393 45392393 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:45392393A>C uc001cmt.1 - 5 600 c.473T>G c.(472-474)ATT>AGT p.I158S EIF2B3_uc001cmu.1_Missense_Mutation_p.I158S|EIF2B3_uc001cmv.1_Missense_Mutation_p.I158S|EIF2B3_uc001cmw.2_Missense_Mutation_p.I158S NM_020365 NP_065098 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, 158 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) GTCCACTCCAATGAAGTCACG 0.443000 HECTD3 79654 broad.mit.edu 37 1 45470426 45470426 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:45470426T>A uc009vxk.2 - 16 2086 c.1988A>T c.(1987-1989)AAG>ATG p.K663M HECTD3_uc001cmx.3_Missense_Mutation_p.K12M|HECTD3_uc001cmy.3_Missense_Mutation_p.K273M|HECTD3_uc010olh.1_Missense_Mutation_p.K379M NM_024602 NP_078878 Q5T447 HECD3_HUMAN HECT domain containing 3 663 HECT. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity 0 Acute lymphoblastic leukemia(166;0.155) CTTCCCAAACTTGAACTCAAA 0.517000 CYP4Z1 199974 broad.mit.edu 37 1 47534415 47534415 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:47534415A>C uc001cqu.1 + 2 302 c.299A>C c.(298-300)AAG>ACG p.K100T NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN cytochrome P450 4Z1 100 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding skin(1) 1 GACTATGCCAAGATTCTCCTG 0.488000 DMRTA2 63950 broad.mit.edu 37 1 50884941 50884941 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:50884941T>G uc010ona.1 - 2 1121 c.1025A>C c.(1024-1026)GAC>GCC p.D342A DMRTA2_uc010onb.1_Missense_Mutation_p.D342A NM_032110 NP_115486 Q96SC8 DMTA2_HUMAN DMRT-like family A2 342 Gly-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 CTGCACCACGTCGCCGCCGCA 0.726000 ZFYVE9 9372 broad.mit.edu 37 1 52703680 52703680 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:52703680T>C uc001cto.2 + 4 763 c.591T>C c.(589-591)TTT>TTC p.F197F ZFYVE9_uc001ctn.2_Silent_p.F197F|ZFYVE9_uc001ctp.2_Silent_p.F197F NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 197 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 AATTTAGTTTTAGTATAAATG 0.333000 SCP2 6342 broad.mit.edu 37 1 53493736 53493736 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:53493736T>C uc001cur.1 + 13 1452 c.1331T>C c.(1330-1332)CTT>CCT p.L444P SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Missense_Mutation_p.L363P|SCP2_uc010onp.1_Missense_Mutation_p.L420P|SCP2_uc009vzi.1_Missense_Mutation_p.L400P|SCP2_uc010onq.1_Missense_Mutation_p.L40P|SCP2_uc001cut.1_Missense_Mutation_p.L37P|SCP2_uc001cuu.1_Missense_Mutation_p.L40P NM_002979 NP_002970 P22307 NLTP_HUMAN sterol carrier protein 2 isoform 1 proprotein 444 SCP2. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1) 1 GAGAAGAAACTTGAAGAGGTA 0.408000 C1orf177 163747 broad.mit.edu 37 1 55279516 55279516 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:55279516C>T uc001cyb.3 + 7 846 c.792C>T c.(790-792)TTC>TTT p.F264F C1orf177_uc001cya.3_Silent_p.F264F NM_001110533 NP_001104003 Q3ZCV2 CA177_HUMAN hypothetical protein LOC163747 isoform 2 264 0 TGATGAATTTCAAGAGCTTTG 0.413000 PRKAA2 5563 broad.mit.edu 37 1 57173228 57173228 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:57173228A>T uc001cyk.3 + 9 1572 c.1501A>T c.(1501-1503)AGT>TGT p.S501C NM_006252 NP_006243 P54646 AAPK2_HUMAN AMP-activated protein kinase alpha 2 catalytic 501 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(4)|ovary(1)|stomach(1) 6 ACCAAGATCAAGTTTTGATTC 0.493000 CYP2J2 1573 broad.mit.edu 37 1 60381714 60381714 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:60381714A>C uc001czq.2 - 2 274 c.269T>G c.(268-270)CTT>CGT p.L90R NM_000775 NP_000766 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, 90 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity ovary(1) 1 all_cancers(7;0.000396) GCCAGTAATAAGAACTGCAGA 0.403000 KANK4 163782 broad.mit.edu 37 1 62733982 62733982 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:62733982T>C uc001dah.3 - 5 2585 c.2208A>G c.(2206-2208)GAA>GAG p.E736E KANK4_uc001dai.3_Silent_p.E108E|KANK4_uc001dag.3_Silent_p.E92E NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 736 ovary(3)|skin(2)|lung(1) 6 AGTGGGGGACTTCTTCCCCAG 0.567000 EFCAB7 84455 broad.mit.edu 37 1 64036736 64036736 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:64036736A>C uc001dbf.2 + 13 2046 c.1752A>C c.(1750-1752)AAA>AAC p.K584N NM_032437 NP_115813 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 584 calcium ion binding 0 AGCTAAGTAAAAACTGCATAA 0.299000 SGIP1 84251 broad.mit.edu 37 1 67142729 67142729 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:67142729T>G uc001dcr.2 + 13 906 c.689T>G c.(688-690)ATT>AGT p.I230S SGIP1_uc010opd.1_5'UTR|SGIP1_uc001dcs.2_5'UTR|SGIP1_uc001dct.2_5'UTR|uc010ope.1_5'Flank|SGIP1_uc009wat.2_5'UTR NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 230 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 GGCCAACCAATTAATCCAAGC 0.398000 DIRAS3 9077 broad.mit.edu 37 1 68512291 68512291 + Nonstop_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:68512291T>C uc001ded.2 - 2 985 c.690A>G c.(688-690)TGA>TGG p.*230W uc001deb.1_Intron|uc001dec.1_Intron NM_004675 NP_004666 O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 230 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 GGCCCAGGGCTCACATGATTA 0.483000 RPE65 6121 broad.mit.edu 37 1 68912456 68912456 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:68912456A>C uc001dei.1 - 3 236 c.182T>G c.(181-183)TTT>TGT p.F61C NM_000329 NP_000320 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 61 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity ovary(1) 1 TTGCCCATCAAACAGGTGGTA 0.522000 LRRIQ3 127255 broad.mit.edu 37 1 74621506 74621506 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:74621506A>T uc001dfy.3 - 4 810 c.618T>A c.(616-618)ACT>ACA p.T206T LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 206 ovary(2) 2 TAATTTTTGAAGTAATATGTT 0.244000 LPHN2 23266 broad.mit.edu 37 1 82445580 82445580 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:82445580T>G uc001dit.3 + 17 3179 c.2998T>G c.(2998-3000)TTG>GTG p.L1000V LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.L1000V|LPHN2_uc001div.2_Missense_Mutation_p.L1000V|LPHN2_uc009wcd.2_Missense_Mutation_p.L1000V|LPHN2_uc001diw.2_Missense_Mutation_p.L584V|LPHN2_uc009wce.1_Missense_Mutation_p.L86V NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 1013 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GGTGATCACATTGTGCAAAAT 0.294000 TTLL7 79739 broad.mit.edu 37 1 84387044 84387044 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:84387044T>G uc001djc.2 - 11 1572 c.1176A>C c.(1174-1176)CAA>CAC p.Q392H TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 392 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) CCTCAGCTTTTTGTTTGGCCA 0.428000 TTLL7 79739 broad.mit.edu 37 1 84412957 84412957 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:84412957T>A uc001djc.2 - 6 752 c.356A>T c.(355-357)AAG>ATG p.K119M TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 119 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) AGGCCGAGACTTGATCATTCT 0.328000 MCOLN3 55283 broad.mit.edu 37 1 85486830 85486830 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:85486830A>C uc001dkp.2 - 12 1543 c.1450T>G c.(1450-1452)TCA>GCA p.S484A MCOLN3_uc001dko.2_Missense_Mutation_p.S103A|MCOLN3_uc001dkq.2_Missense_Mutation_p.S428A NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 484 Helical; (Potential). integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) CTGATGAATGAGTAGAGGTAA 0.338000 SYDE2 84144 broad.mit.edu 37 1 85648753 85648753 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:85648753T>C uc009wcm.2 - 3 1621 c.1572A>G c.(1570-1572)CGA>CGG p.R524R SYDE2_uc001dku.3_Silent_p.R524R NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 524 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) TCCTCACAGTTCGTGGAGATT 0.358000 BARHL2 343472 broad.mit.edu 37 1 91178170 91178170 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:91178170T>C uc001dns.2 - 3 905 c.863A>G c.(862-864)AAG>AGG p.K288R NM_020063 NP_064447 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 288 Homeobox. nucleus sequence-specific DNA binding ovary(1) 1 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) TGTCTGCCGCTTCCACTTGGT 0.622000 CCDC18 343099 broad.mit.edu 37 1 93667544 93667544 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:93667544A>C uc001dpq.2 + 7 1316 c.1148A>C c.(1147-1149)AAG>ACG p.K383T NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 265 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) AAACTGGAAAAGGTAAAAGGC 0.333000 F3 2152 broad.mit.edu 37 1 94998735 94998735 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:94998735T>G uc001dqr.2 - 4 681 c.502A>C c.(502-504)AGG>CGG p.R168R F3_uc001dqp.2_RNA|F3_uc001dqq.2_RNA|F3_uc001dqs.2_Silent_p.R168R NM_001993 NP_001984 P13726 TF_HUMAN coagulation factor III precursor 168 Extracellular (Potential). activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding central_nervous_system(1) 1 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) GTGTTGTTCCTTCTGACTAAA 0.398000 LPPR4 9890 broad.mit.edu 37 1 99771358 99771358 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:99771358A>G uc001dse.2 + 7 1190 c.1084A>G c.(1084-1086)AAT>GAT p.N362D LPPR4_uc010oue.1_Missense_Mutation_p.N304D NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 362 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) ATCTGCTAAAAATGGTAGCAG 0.458000 GPSM2 29899 broad.mit.edu 37 1 109444457 109444457 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:109444457A>C uc010ovc.1 + 8 1339 c.843A>C c.(841-843)GAA>GAC p.E281D AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.E281D|GPSM2_uc010ove.1_Missense_Mutation_p.E281D NM_013296 NP_037428 P81274 GPSM2_HUMAN LGN protein 281 G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) GAGCTGTAGAAGCACAGTCTT 0.373000 KCNA10 3744 broad.mit.edu 37 1 111060063 111060063 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:111060063A>G uc001dzt.1 - 1 1735 c.1347T>C c.(1345-1347)ATT>ATC p.I449I NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 449 Helical; Name=Segment S6; (Potential). voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) CAGGGAGGGCAATGGTGAGGA 0.522000 ST7L 54879 broad.mit.edu 37 1 113120988 113120988 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:113120988T>G uc001ecd.2 - 10 1426 c.1121A>C c.(1120-1122)AAG>ACG p.K374T ST7L_uc009wgh.2_RNA|ST7L_uc001ecc.2_Missense_Mutation_p.K191T|ST7L_uc010owg.1_Missense_Mutation_p.K309T|ST7L_uc010owh.1_Missense_Mutation_p.K168T|ST7L_uc001ece.2_Missense_Mutation_p.K374T|ST7L_uc001ecf.2_Missense_Mutation_p.K357T|ST7L_uc001ecg.2_RNA|ST7L_uc010owi.1_Missense_Mutation_p.K309T|ST7L_uc001ech.2_Missense_Mutation_p.K357T|ST7L_uc001eci.2_Missense_Mutation_p.K374T|ST7L_uc009wgi.1_RNA|ST7L_uc010owj.1_Missense_Mutation_p.K357T NM_017744 NP_060214 Q8TDW4 ST7L_HUMAN suppression of tumorigenicity 7-like isoform 1 374 negative regulation of cell growth integral to membrane binding 0 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGTCCTTGTCTTCAACAGTGC 0.343000 SYCP1 6847 broad.mit.edu 37 1 115418757 115418757 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:115418757A>C uc001efr.2 + 10 934 c.725A>C c.(724-726)AAG>ACG p.K242T SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.K242T|SYCP1_uc009wgw.2_Missense_Mutation_p.K242T NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 242 Potential. cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) 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) ATGCATTTTAAGTGTAGGTAT 0.274000 PTGFRN 5738 broad.mit.edu 37 1 117509665 117509665 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:117509665A>G uc001egv.1 + 6 1909 c.1772A>G c.(1771-1773)AAG>AGG p.K591R NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 591 Ig-like C2-type 5.|Extracellular (Potential). endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding liver(1) 1 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) ATGGCTGAGAAGCCTGTCGGC 0.473000 SPAG17 200162 broad.mit.edu 37 1 118571009 118571009 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:118571009T>G uc001ehk.2 - 26 3686 c.3618A>C c.(3616-3618)GAA>GAC p.E1206D NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1206 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTGGTTCTACTTCTTCTTCCT 0.413000 SPAG17 200162 broad.mit.edu 37 1 118629317 118629317 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:118629317C>T uc001ehk.2 - 12 1656 c.1588G>A c.(1588-1590)GCC>ACC p.A530T NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 530 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTCTTGTGGGCGTGTGCATCA 0.393000 PDE4DIP 9659 broad.mit.edu 37 1 144922549 144922549 + Silent SNP G G C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:144922549G>C uc001elw.3 - 7 1149 c.858C>G c.(856-858)CTC>CTG p.L286L 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_Silent_p.L352L|PDE4DIP_uc001emc.1_Silent_p.L286L|PDE4DIP_uc001emd.1_Silent_p.L286L|PDE4DIP_uc001emb.1_Silent_p.L449L|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Silent_p.L73L NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 286 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) GAGTTTCCTTGAGGTTCTGAA 0.383000 T PDGFRB MPD PDE4DIP 9659 broad.mit.edu 37 1 144952201 144952201 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:144952201T>G uc001elw.3 - 4 809 c.518A>C c.(517-519)AAG>ACG p.K173T 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.K239T|PDE4DIP_uc001emc.1_Missense_Mutation_p.K173T|PDE4DIP_uc001emd.1_Missense_Mutation_p.K173T|PDE4DIP_uc001emg.1_Missense_Mutation_p.K173T|PDE4DIP_uc001emh.2_Missense_Mutation_p.K310T NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 173 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) AGGCACCTACTTGTCCCTCTG 0.522000 T PDGFRB MPD TXNIP 10628 broad.mit.edu 37 1 145441019 145441019 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:145441019A>T uc001enn.3 + 7 1447 c.1106A>T c.(1105-1107)GAG>GTG p.E369V NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.E314V NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 369 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TATGCCCCTGAGTTCAAGTTC 0.443000 NBPF15 284565 broad.mit.edu 37 1 148594490 148594490 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:148594490A>C uc001esc.2 + 19 2352 c.1863A>C c.(1861-1863)CAA>CAC p.Q621H NM_173638 NP_775909 Q8N660 NBPFF_HUMAN hypothetical protein LOC284565 621 NBPF 6. cytoplasm 0 all_hematologic(923;0.032) ACTTTGAACAACCTGACTCAT 0.448000 PLEKHO1 51177 broad.mit.edu 37 1 150128276 150128276 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:150128276A>C uc001ett.2 + 3 472 c.194A>C c.(193-195)AAT>ACT p.N65T PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_5'UTR|PLEKHO1_uc001etu.2_5'UTR NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O 65 PH. cytoplasm|nucleus|plasma membrane lung(1) 1 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GATGAGAAAAATATTCAAGAG 0.433000 RPRD2 23248 broad.mit.edu 37 1 150443335 150443335 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:150443335T>C uc009wlr.2 + 11 2112 c.1911T>C c.(1909-1911)ACT>ACC p.T637T RPRD2_uc010pcc.1_Silent_p.T611T|RPRD2_uc001eup.3_Silent_p.T611T NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 637 Ser-rich. protein binding ovary(1) 1 CCCACAATACTAGCCCTGCTG 0.522000 POGZ 23126 broad.mit.edu 37 1 151384138 151384138 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:151384138T>G uc001eyd.1 - 12 2195 c.1889A>C c.(1888-1890)AAT>ACT p.N630T POGZ_uc001eye.1_Missense_Mutation_p.N577T|POGZ_uc010pdb.1_Missense_Mutation_p.N621T|POGZ_uc001eyf.1_Missense_Mutation_p.N586T|POGZ_uc010pdc.1_Missense_Mutation_p.N568T|POGZ_uc009wmv.1_Missense_Mutation_p.N535T|POGZ_uc010pdd.1_Missense_Mutation_p.N121T NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 630 C2H2-type 6. cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding ovary(3) 3 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGCATTGCCATTTTTGAAGAC 0.438000 TCHHL1 126637 broad.mit.edu 37 1 152059288 152059288 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:152059288T>G uc001ezo.1 - 3 935 c.870A>C c.(868-870)GAA>GAC p.E290D NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 290 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GTAGGGGTGGTTCTTGTATAT 0.443000 FLG 2312 broad.mit.edu 37 1 152278844 152278844 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:152278844T>A uc001ezu.1 - 3 8554 c.8518A>T c.(8518-8520)ACA>TCA p.T2840S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2840 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) TTACGTGTTGTTCTGCTTGCA 0.562000 Ichthyosis FLG 2312 broad.mit.edu 37 1 152281847 152281847 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:152281847A>G uc001ezu.1 - 3 5551 c.5515T>C c.(5515-5517)TCA>CCA p.S1839P NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1839 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) TGAGACCCTGAGTGTCCAGAA 0.547000 Ichthyosis FLG 2312 broad.mit.edu 37 1 152283117 152283117 + Silent SNP T T C rs150981235 TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:152283117T>C uc001ezu.1 - 3 4281 c.4245A>G c.(4243-4245)CAA>CAG p.Q1415Q uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1415 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) GGGGCCCAGCTTGTCCGTGGG 0.562000 Ichthyosis SPRR2D 6703 broad.mit.edu 37 1 153012624 153012624 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:153012624A>C uc001fbb.2 - 2 259 c.199T>G c.(199-201)TGT>GGT p.C67G SPRR2D_uc009wnz.2_RNA NM_006945 NP_008876 P22532 SPR2D_HUMAN small proline-rich protein 2D 67 keratinization cornified envelope|cytoplasm 0 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TTGGGTGGACACTTTGGCTGG 0.542000 ADAR 103 broad.mit.edu 37 1 154561054 154561054 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:154561054T>C uc001ffh.2 - 10 3058 c.2858A>G c.(2857-2859)AAG>AGG p.K953R ADAR_uc001ffj.2_Missense_Mutation_p.K908R|ADAR_uc001ffi.2_Missense_Mutation_p.K927R|ADAR_uc001ffk.2_Missense_Mutation_p.K658R NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 953 A to I editase. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) TGACACAGTCTTTTTTATTTG 0.443000 ASH1L 55870 broad.mit.edu 37 1 155448496 155448496 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:155448496A>C uc009wqq.2 - 3 4645 c.4165T>G c.(4165-4167)TCA>GCA p.S1389A ASH1L_uc001fkt.2_Missense_Mutation_p.S1389A|ASH1L_uc009wqr.1_Missense_Mutation_p.S1389A NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1389 Pro-rich. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GTAAGGGGTGAAGGAGAGTAA 0.468000 ASH1L 55870 broad.mit.edu 37 1 155450488 155450488 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:155450488T>C uc009wqq.2 - 3 2653 c.2173A>G c.(2173-2175)AGA>GGA p.R725G ASH1L_uc001fkt.2_Missense_Mutation_p.R725G|ASH1L_uc009wqr.1_Missense_Mutation_p.R725G NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 725 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CATGTGCTTCTTGCCACCACT 0.403000 CCDC19 25790 broad.mit.edu 37 1 159842746 159842746 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:159842746A>G uc001fui.2 - 11 1583 c.1565T>C c.(1564-1566)CTT>CCT p.L522P CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.L437P|CCDC19_uc001ful.2_Missense_Mutation_p.L437P NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 522 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) CAGCTCTTCAAGCTTTTTCCT 0.567000 CASQ1 844 broad.mit.edu 37 1 160168757 160168757 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:160168757T>G uc010pja.1 + 9 1155 c.898T>G c.(898-900)TTA>GTA p.L300V NM_001231 NP_001222 P31415 CASQ1_HUMAN calsequestrin 1 300 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) TTTCGAGTTCTTAGAGACTCT 0.507000 OLFML2B 25903 broad.mit.edu 37 1 161969998 161969998 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:161969998A>C uc001gbu.2 - 5 1278 c.854T>G c.(853-855)CTG>CGG p.L285R OLFML2B_uc010pkq.1_Missense_Mutation_p.L286R NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 285 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CCGGCCTCTCAGGTGGACCTG 0.597000 LRRC52 440699 broad.mit.edu 37 1 165532984 165532984 + Missense_Mutation SNP G G A rs150359687 byFrequency TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:165532984G>A uc001gde.2 + 2 921 c.865G>A c.(865-867)GGG>AGG p.G289R LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 precursor 289 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) GGACGAGGCCGGGACTAGGGT 0.567000 ADCY10 55811 broad.mit.edu 37 1 167823637 167823637 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:167823637T>C uc001ger.2 - 18 2560 c.2262A>G c.(2260-2262)CAA>CAG p.Q754Q ADCY10_uc009wvk.2_Silent_p.Q662Q|ADCY10_uc010plj.1_Silent_p.Q601Q|ADCY10_uc009wvl.2_Silent_p.Q753Q NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 754 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 CAGACTCCGTTTGTTGGAAAA 0.433000 XCL1 6375 broad.mit.edu 37 1 168550314 168550314 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:168550314A>G uc001gfo.1 + 3 221 c.201A>G c.(199-201)AAA>AAG p.K67K NM_002995 NP_002986 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 67 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity 0 all_hematologic(923;0.208) GTGGCCTAAAAGTCTGTGCTG 0.478000 F5 2153 broad.mit.edu 37 1 169510764 169510764 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:169510764T>C uc001ggg.1 - 13 3709 c.3564A>G c.(3562-3564)CCA>CCG p.P1188P NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1188 2-1.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GGCTGAGGTCTGGAGAGATGA 0.502000 F5 2153 broad.mit.edu 37 1 169511737 169511737 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:169511737T>G uc001ggg.1 - 13 2736 c.2591A>C c.(2590-2592)AAG>ACG p.K864T NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 864 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCCCTTATGCTTAGCATGTTC 0.443000 FMO3 2328 broad.mit.edu 37 1 171086467 171086467 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:171086467A>C uc001ghi.2 + 9 1595 c.1484A>C c.(1483-1485)AAA>ACA p.K495T FMO3_uc001ghh.2_Missense_Mutation_p.K495T|FMO3_uc010pmb.1_Missense_Mutation_p.K475T|FMO3_uc010pmc.1_Missense_Mutation_p.K432T NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 495 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CGGTCGTTGAAACCCATGCAG 0.517000 SLC9A11 284525 broad.mit.edu 37 1 173503803 173503803 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:173503803A>G uc001giz.2 - 16 2217 c.1794T>C c.(1792-1794)ACT>ACC p.T598T SLC9A11_uc009wwe.2_Silent_p.T156T|SLC9A11_uc010pmq.1_Intron NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 598 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 GAAATATAAAAGTCAGAAATG 0.254000 ANGPTL1 9068 broad.mit.edu 37 1 178834562 178834562 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:178834562T>G uc001gma.2 - 3 826 c.350A>C c.(349-351)AAG>ACG p.K117T RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Missense_Mutation_p.K117T|ANGPTL1_uc010pnc.1_Missense_Mutation_p.K39T NM_004673 NP_004664 O95841 ANGL1_HUMAN angiopoietin-like 1 precursor 117 Potential. extracellular space receptor binding 0 TCTCAGCAGCTTTACCTCATT 0.423000 ABL2 27 broad.mit.edu 37 1 179089374 179089374 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:179089374T>G uc001gmj.3 - 6 1283 c.996A>C c.(994-996)GAA>GAC p.E332D ABL2_uc010pnf.1_Missense_Mutation_p.E332D|ABL2_uc010png.1_Missense_Mutation_p.E311D|ABL2_uc010pnh.1_Missense_Mutation_p.E311D|ABL2_uc009wxe.2_Missense_Mutation_p.E311D|ABL2_uc001gmg.3_Missense_Mutation_p.E317D|ABL2_uc001gmi.3_Missense_Mutation_p.E317D|ABL2_uc001gmh.3_Missense_Mutation_p.E296D|ABL2_uc010pne.1_Missense_Mutation_p.E296D|ABL2_uc009wxf.1_Missense_Mutation_p.E317D|ABL2_uc001gmk.2_Missense_Mutation_p.E296D NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 332 Protein kinase. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TTACTGCAGCTTCTTTCAGGA 0.393000 T ETV6 AML ABL2 27 broad.mit.edu 37 1 179095648 179095648 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:179095648T>C uc001gmj.3 - 4 838 c.551A>G c.(550-552)GAG>GGG p.E184G ABL2_uc010pnf.1_Missense_Mutation_p.E184G|ABL2_uc010png.1_Missense_Mutation_p.E163G|ABL2_uc010pnh.1_Missense_Mutation_p.E163G|ABL2_uc009wxe.2_Missense_Mutation_p.E163G|ABL2_uc001gmg.3_Missense_Mutation_p.E169G|ABL2_uc001gmi.3_Missense_Mutation_p.E169G|ABL2_uc001gmh.3_Missense_Mutation_p.E148G|ABL2_uc010pne.1_Missense_Mutation_p.E148G|ABL2_uc009wxf.1_Missense_Mutation_p.E169G|ABL2_uc001gmk.2_Missense_Mutation_p.E148G NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 184 SH2. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GAGCAGATACTCAGCTGCACT 0.557000 T ETV6 AML SOAT1 6646 broad.mit.edu 37 1 179304702 179304702 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:179304702T>C uc001gml.2 + 4 302 c.239T>C c.(238-240)CTC>CCC p.L80P SOAT1_uc010pni.1_Missense_Mutation_p.L15P|SOAT1_uc001gmm.2_Missense_Mutation_p.L22P|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Missense_Mutation_p.L15P NM_003101 NP_003092 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 80 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|skin(1) 2 Ezetimibe(DB00973)|Hesperetin(DB01094) GTGACCAATCTCATTGAAAAG 0.358000 GLUL 2752 broad.mit.edu 37 1 182355421 182355421 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:182355421A>G uc001gpa.1 - 4 657 c.445T>C c.(445-447)TGG>CGG p.W149R GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.W149R|GLUL_uc001gpc.1_Missense_Mutation_p.W149R|GLUL_uc001gpd.1_Missense_Mutation_p.W149R NM_001033056 NP_001028228 P15104 GLNA_HUMAN glutamine synthetase 149 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) TTGGAAGGCCAACCAAAGGGG 0.562000 RGS16 6004 broad.mit.edu 37 1 182572397 182572397 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:182572397T>C uc001gpl.3 - 2 276 c.122A>G c.(121-123)AAG>AGG p.K41R RGS16_uc010pnv.1_Missense_Mutation_p.K41R NM_002928 NP_002919 O15492 RGS16_HUMAN regulator of G-protein signalling 16 41 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(1) 1 CCACTCGAACTTGCCAGTACT 0.512000 DHX9 1660 broad.mit.edu 37 1 182829162 182829162 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:182829162A>C uc001gpr.2 + 12 1338 c.1175A>C c.(1174-1176)AAA>ACA p.K392T DHX9_uc001gps.2_Missense_Mutation_p.K178T NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 392 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 CCTGTGAAGAAATTTGAAAGT 0.418000 PTGS2 5743 broad.mit.edu 37 1 186643498 186643498 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:186643498G>A uc001gsb.2 - 10 1939 c.1802C>T c.(1801-1803)TCG>TTG p.S601L PTGS2_uc009wyo.2_Missense_Mutation_p.S448L NM_000963 NP_000954 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 precursor 601 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|central_nervous_system(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) CAGTTCAGTCGAACGTTCTTT 0.313000 LHX9 56956 broad.mit.edu 37 1 197890706 197890706 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:197890706A>C uc001guk.1 + 3 1087 c.650A>C c.(649-651)AAC>ACC p.N217T LHX9_uc001gui.1_Missense_Mutation_p.N208T|LHX9_uc001guj.1_Missense_Mutation_p.N223T NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 217 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CCTTACTTCAACGGTACGGGC 0.637000 CAMSAP1L1 23271 broad.mit.edu 37 1 200822487 200822487 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:200822487A>C uc001gvl.2 + 14 3990 c.3720A>C c.(3718-3720)AAA>AAC p.K1240N CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.K1229N|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.K1213N NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 1240 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 TGAGGCGGAAACAACTGAAAC 0.368000 LAD1 3898 broad.mit.edu 37 1 201355652 201355652 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:201355652C>T uc001gwm.2 - 3 1072 c.837G>A c.(835-837)CCG>CCA p.P279P LAD1_uc009wzu.1_Silent_p.P301P NM_005558 NP_005549 O00515 LAD1_HUMAN ladinin 1 279 basement membrane structural molecule activity 0 TCTTTGGGGCCGGCTTAGCAT 0.637000 NAV1 89796 broad.mit.edu 37 1 201751840 201751840 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:201751840A>T uc001gwu.2 + 6 2547 c.2200A>T c.(2200-2202)ACA>TCA p.T734S NAV1_uc001gwv.1_Missense_Mutation_p.T242S|NAV1_uc001gww.1_Missense_Mutation_p.T343S|NAV1_uc001gwx.2_Missense_Mutation_p.T343S|NAV1_uc001gwy.1_Missense_Mutation_p.T115S NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 734 Potential. cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 TGTCAATCAGACAGATCGGGA 0.557000 LGR6 59352 broad.mit.edu 37 1 202287259 202287259 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:202287259T>A uc001gxu.2 + 18 1828 c.1828T>A c.(1828-1830)TTG>ATG p.L610M LGR6_uc001gxv.2_Missense_Mutation_p.L558M|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.L471M NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 610 Helical; Name=2; (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 CGCCAACACCTTGACTGGCAT 0.627000 PRELP 5549 broad.mit.edu 37 1 203452402 203452402 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:203452402T>C uc001gzs.2 + 2 290 c.90T>C c.(88-90)ACT>ACC p.T30T PRELP_uc001gzt.2_Silent_p.T30T NM_002725 NP_002716 P51888 PRELP_HUMAN proline arginine-rich end leucine-rich repeat 30 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.109) GACCCGGGACTGGGCCCGGGC 0.652000 LAX1 54900 broad.mit.edu 37 1 203741246 203741246 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:203741246T>A uc001haa.2 + 4 771 c.361T>A c.(361-363)TCC>ACC p.S121T LAX1_uc010pql.1_Missense_Mutation_p.S105T|LAX1_uc001hab.2_Missense_Mutation_p.S45T NM_017773 NP_060243 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 isoform a 121 Cytoplasmic (Potential). B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2) 2 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) GAGCCTCCTCTCCAGAAATTC 0.493000 LRRN2 10446 broad.mit.edu 37 1 204587213 204587213 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:204587213A>G uc001hbe.1 - 3 2296 c.1908T>C c.(1906-1908)GCT>GCC p.A636A MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.A636A|LRRN2_uc009xbf.1_Silent_p.A636A|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 636 Helical; (Potential). cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GGACAGCGAGAGCCAGGATGG 0.647000 CR1 1378 broad.mit.edu 37 1 207780607 207780607 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:207780607T>G uc001hfy.2 + 28 4612 c.4472T>G c.(4471-4473)ATT>AGT p.I1491S CR1_uc009xcl.1_Missense_Mutation_p.I1041S|CR1_uc001hfx.2_Missense_Mutation_p.I1941S NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1491 Extracellular (Potential).|Sushi 23. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TTTCGACTCATTGGTTCCCCA 0.338000 INTS7 25896 broad.mit.edu 37 1 212161319 212161319 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:212161319A>G uc001hiw.1 - 8 1011 c.906T>C c.(904-906)ACT>ACC p.T302T INTS7_uc009xdb.1_Silent_p.T302T|INTS7_uc001hix.1_Silent_p.T178T|INTS7_uc001hiy.1_Silent_p.T302T|INTS7_uc010pta.1_Silent_p.T253T NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 302 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) TGTCATAAGGAGTCTGGAGGG 0.393000 USH2A 7399 broad.mit.edu 37 1 216595645 216595645 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:216595645A>C uc001hku.1 - 2 421 c.34T>G c.(34-36)TTC>GTC p.F12V USH2A_uc001hkv.2_Missense_Mutation_p.F12V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 12 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGAAACAAGAAGCCAGAGCCC 0.423000 HNSCC(13;0.011) MOSC1 64757 broad.mit.edu 37 1 220970082 220970082 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:220970082T>G uc001hms.2 + 3 795 c.547T>G c.(547-549)TTC>GTC p.F183V MOSC1_uc001hmt.2_Missense_Mutation_p.F183V NM_022746 NP_073583 Q5VT66 MOSC1_HUMAN MOCO sulphurase C-terminal domain containing 1 183 molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding 0 GBM - Glioblastoma multiforme(131;0.0358) CCTGGTGCACTTCGAGCCTCA 0.592000 MOSC1 64757 broad.mit.edu 37 1 220978447 220978447 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:220978447T>C uc001hms.2 + 5 1055 c.807T>C c.(805-807)GCT>GCC p.A269A MOSC1_uc001hmt.2_Silent_p.A286A NM_022746 NP_073583 Q5VT66 MOSC1_HUMAN MOCO sulphurase C-terminal domain containing 1 269 MOSC. molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding 0 GBM - Glioblastoma multiforme(131;0.0358) GGGTGATGGCTTGTTCCAGGT 0.532000 MIA3 375056 broad.mit.edu 37 1 222806483 222806483 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:222806483T>C uc001hnl.2 + 6 3378 c.3369T>C c.(3367-3369)ATT>ATC p.I1123I MIA3_uc009xea.1_Silent_p.I959I NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1123 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) TGGATGCTATTGATGCAAACA 0.383000 LIN9 286826 broad.mit.edu 37 1 226455692 226455692 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:226455692A>C uc001hqa.2 - 8 1140 c.830T>G c.(829-831)CTT>CGT p.L277R LIN9_uc001hqb.2_Missense_Mutation_p.L242R|LIN9_uc001hqc.2_Missense_Mutation_p.L209R|LIN9_uc009xel.1_Missense_Mutation_p.L242R NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN lin-9 homolog 261 Sufficient for interaction with RB1. cell cycle|DNA replication nucleoplasm 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) ATGGGTTCCAAGCCCTGTCCT 0.358000 URB2 9816 broad.mit.edu 37 1 229771360 229771360 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:229771360T>C uc001hts.1 + 4 1136 c.1000T>C c.(1000-1002)TGC>CGC p.C334R URB2_uc009xfd.1_Missense_Mutation_p.C334R NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 334 nucleolus central_nervous_system(2)|ovary(1) 3 GTTGTTTGGCTGCTTGAAGAT 0.488000 URB2 9816 broad.mit.edu 37 1 229773272 229773272 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:229773272T>G uc001hts.1 + 4 3048 c.2912T>G c.(2911-2913)TTT>TGT p.F971C URB2_uc009xfd.1_Missense_Mutation_p.F971C NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 971 nucleolus central_nervous_system(2)|ovary(1) 3 AGTGATATTTTTGAGGTTGTA 0.443000 PGBD5 79605 broad.mit.edu 37 1 230486768 230486768 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:230486768T>C uc010pwb.1 - 3 623 c.623A>G c.(622-624)AAG>AGG p.K208R PGBD5_uc001htv.2_Missense_Mutation_p.K307R NM_024554 NP_078830 Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 208 integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) CTTTTTCCTCTTTCGCAGCTC 0.557000 SIPA1L2 57568 broad.mit.edu 37 1 232581415 232581415 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:232581415A>G uc001hvg.2 - 9 3371 c.3213T>C c.(3211-3213)ACT>ACC p.T1071T SIPA1L2_uc001hvf.2_Silent_p.T145T NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1071 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GCAGGGCAGGAGTGGGCACCC 0.652000 PCNXL2 80003 broad.mit.edu 37 1 233136103 233136103 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:233136103T>C uc001hvl.2 - 30 5511 c.5276A>G c.(5275-5277)GAG>GGG p.E1759G PCNXL2_uc001hvk.1_Missense_Mutation_p.E411G|PCNXL2_uc001hvm.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1759 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) GACCTTGTACTCGTCGGCACC 0.612000 SLC35F3 148641 broad.mit.edu 37 1 234452387 234452387 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:234452387A>C uc001hwa.1 + 4 889 c.661A>C c.(661-663)ATG>CTG p.M221L SLC35F3_uc001hvy.1_Missense_Mutation_p.M290L NM_173508 NP_775779 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 221 Helical; (Potential). transport integral to membrane ovary(2) 2 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CATTGTGATGATGACCTACGC 0.592000 TARBP1 6894 broad.mit.edu 37 1 234541725 234541725 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:234541725T>G uc001hwd.2 - 24 3913 c.3913A>C c.(3913-3915)AGT>CGT p.S1305R NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 1305 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TCTTCAACACTTAACACTTTA 0.443000 LYST 1130 broad.mit.edu 37 1 235884124 235884124 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:235884124T>A uc001hxj.2 - 40 9572 c.9397A>T c.(9397-9399)AAT>TAT p.N3133Y LYST_uc001hxi.2_Missense_Mutation_p.N357Y NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3133 BEACH. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TACCATAAATTTGTCAGAGCG 0.373000 Chediak-Higashi_syndrome LYST 1130 broad.mit.edu 37 1 235993568 235993568 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:235993568T>G uc001hxj.2 - 3 325 c.150A>C c.(148-150)CGA>CGC p.R50R LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.R50R|LYST_uc001hxm.2_RNA|LYST_uc001hxn.1_Silent_p.R50R NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 50 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ATAGAAATCCTCGACCATGGA 0.418000 Chediak-Higashi_syndrome ACTN2 88 broad.mit.edu 37 1 236906233 236906233 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:236906233A>G uc001hyf.2 + 11 1349 c.1145A>G c.(1144-1146)GAG>GGG p.E382G ACTN2_uc001hyg.2_Missense_Mutation_p.E174G|ACTN2_uc009xgi.1_Missense_Mutation_p.E382G|ACTN2_uc010pxu.1_Missense_Mutation_p.E71G|ACTN2_uc001hyh.2_Missense_Mutation_p.E70G NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 382 Spectrin 1. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GAGCAGGCTGAGAAGGGTTAC 0.542000 ACTN2 88 broad.mit.edu 37 1 236914899 236914899 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:236914899A>T uc001hyf.2 + 15 1990 c.1786A>T c.(1786-1788)AGC>TGC p.S596C ACTN2_uc001hyg.2_Missense_Mutation_p.S388C|ACTN2_uc009xgi.1_Missense_Mutation_p.S596C|ACTN2_uc010pxu.1_Missense_Mutation_p.S285C|ACTN2_uc001hyh.2_Missense_Mutation_p.S284C NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 596 Spectrin 3. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) AATCAGCTCAAGCAACCCGTA 0.602000 RYR2 6262 broad.mit.edu 37 1 237754244 237754244 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:237754244A>T uc001hyl.1 + 31 4232 c.4112A>T c.(4111-4113)AAC>ATC p.N1371I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1371 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) CCAGAGTTTAACAACCACAAA 0.403000 RYR2 6262 broad.mit.edu 37 1 237777619 237777619 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:237777619G>A uc001hyl.1 + 37 5311 c.5191G>A c.(5191-5193)GAG>AAG p.E1731K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1731 Cytoplasmic (By similarity).|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) CCCCATGACGGAGGAGACGAA 0.552000 RYR2 6262 broad.mit.edu 37 1 237806735 237806735 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:237806735A>T uc001hyl.1 + 48 7450 c.7330A>T c.(7330-7332)ACA>TCA p.T2444S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2444 Cytoplasmic (By similarity).|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) TCAGATGCCAACAATAGCCAA 0.448000 CHRM3 1131 broad.mit.edu 37 1 240071166 240071166 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:240071166T>A uc001hyp.2 + 5 1194 c.415T>A c.(415-417)TTG>ATG p.L139M NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 139 Extracellular (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CTTAGGGAACTTGGCCTGTGA 0.473000 ADSS 159 broad.mit.edu 37 1 244587330 244587330 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:244587330A>C uc001iaj.2 - 6 800 c.506T>G c.(505-507)GTT>GGT p.V169G ADSS_uc009xgr.1_RNA NM_001126 NP_001117 P30520 PURA2_HUMAN adenylosuccinate synthase 169 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding ovary(2)|kidney(1) 3 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) GGACGAATAAACTGGGCCAAT 0.423000 C1orf101 257044 broad.mit.edu 37 1 244724442 244724442 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:244724442T>G uc001iam.2 + 10 1561 c.1502T>G c.(1501-1503)TTC>TGC p.F501C C1orf101_uc001iak.1_Missense_Mutation_p.F55C|C1orf101_uc001ial.2_Missense_Mutation_p.F501C|C1orf101_uc010pym.1_Missense_Mutation_p.F350C|C1orf101_uc010pyn.1_Missense_Mutation_p.F434C NM_001130957 NP_001124429 Q5SY80 CA101_HUMAN hypothetical protein LOC257044 isoform 1 501 Extracellular (Potential). integral to membrane ovary(1)|breast(1) 2 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) CATGAAGTTTTCATAGGTAAG 0.338000 NLRP3 114548 broad.mit.edu 37 1 247588114 247588114 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:247588114A>G uc001icr.2 + 5 1507 c.1369A>G c.(1369-1371)AGC>GGC p.S457G NLRP3_uc001ics.2_Missense_Mutation_p.S457G|NLRP3_uc001icu.2_Missense_Mutation_p.S457G|NLRP3_uc001icw.2_Missense_Mutation_p.S457G|NLRP3_uc001icv.2_Missense_Mutation_p.S457G|NLRP3_uc010pyw.1_Missense_Mutation_p.S455G|NLRP3_uc001ict.1_Missense_Mutation_p.S455G NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 457 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CCGGGGAGGGAGCCAGGAGCA 0.597000 OR11L1 391189 broad.mit.edu 37 1 248004777 248004777 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:248004777C>T uc001idn.1 - 1 422 c.422G>A c.(421-423)TGT>TAT p.C141Y NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 141 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CAACCTGGCACAGAGCCCACG 0.592000 OR2M5 127059 broad.mit.edu 37 1 248308778 248308778 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:248308778C>T uc010pze.1 + 1 329 c.329C>T c.(328-330)TCC>TTC p.S110F NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CTGCTTGGCTCCGAATGCTTT 0.443000 OR2M4 26245 broad.mit.edu 37 1 248402855 248402855 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:248402855T>C uc010pzh.1 + 1 625 c.625T>C c.(625-627)TTT>CTT p.F209L NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AATGCTAATCTTTCCAGTTTC 0.448000 OR2G6 391211 broad.mit.edu 37 1 248685651 248685651 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:248685651A>G uc001ien.1 + 1 704 c.704A>G c.(703-705)CAA>CGA p.Q235R NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCGGGCCGCCAAAAGGCCTTT 0.463000 FBXO18 84893 broad.mit.edu 37 10 5957404 5957404 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:5957404A>C uc001iis.2 + 9 1530 c.1435A>C c.(1435-1437)AAG>CAG p.K479Q FBXO18_uc001iir.2_Missense_Mutation_p.K405Q|FBXO18_uc009xig.2_Missense_Mutation_p.K405Q|FBXO18_uc001iit.2_Missense_Mutation_p.K530Q NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 479 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 GTATGCAGAGAAGTGGTCTCA 0.547000 PRKCQ 5588 broad.mit.edu 37 10 6540451 6540451 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:6540451T>C uc001ijj.1 - 5 524 c.449A>G c.(448-450)AAG>AGG p.K150R PRKCQ_uc009xim.1_Missense_Mutation_p.K150R|PRKCQ_uc001iji.1_Missense_Mutation_p.K183R|PRKCQ_uc009xin.1_Missense_Mutation_p.K114R|PRKCQ_uc010qax.1_Missense_Mutation_p.K25R NM_006257 NP_006248 Q04759 KPCT_HUMAN protein kinase C, theta 150 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 CTTTGCCTGCTTGATGGCACC 0.517000 UPF2 26019 broad.mit.edu 37 10 12046600 12046600 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:12046600A>T uc001ila.2 - 4 1907 c.1433T>A c.(1432-1434)GTC>GAC p.V478D UPF2_uc001ilb.2_Missense_Mutation_p.V478D|UPF2_uc001ilc.2_Missense_Mutation_p.V478D|UPF2_uc009xiz.1_Missense_Mutation_p.V478D NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 478 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) GATGGCTGGGACAAAAGCCTT 0.348000 RSU1 6251 broad.mit.edu 37 10 16635430 16635430 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:16635430T>G uc001iok.2 - 8 1099 c.797A>C c.(796-798)AAG>ACG p.K266T RSU1_uc001iol.2_Missense_Mutation_p.K266T|RSU1_uc001iom.2_Missense_Mutation_p.K213T NM_152724 NP_689937 Q15404 RSU1_HUMAN ras suppressor protein 1 isoform 2 266 cell junction assembly|signal transduction cytosol protein binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(1;7.54e-08) CCGGCTGATCTTTTTCGATTT 0.493000 CUBN 8029 broad.mit.edu 37 10 17113591 17113591 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:17113591T>G uc001ioo.2 - 19 2511 c.2459A>C c.(2458-2460)GAA>GCA p.E820A NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 820 CUB 4. 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) TCCAGTTAATTCATCCCCGCA 0.413000 GPR158 57512 broad.mit.edu 37 10 25887698 25887698 + Missense_Mutation SNP C C A rs149957388 byFrequency TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:25887698C>A uc001isj.2 + 11 3203 c.3143C>A c.(3142-3144)TCT>TAT p.S1048Y GPR158_uc001isk.2_Missense_Mutation_p.S423Y NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 1048 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 AAGGAGAAATCTCACCACAAG 0.458000 GAD2 2572 broad.mit.edu 37 10 26559570 26559570 + Missense_Mutation SNP G G A rs2839678 TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:26559570G>A uc001isp.2 + 10 1480 c.977G>A c.(976-978)GGG>GAG p.G326E GAD2_uc001isq.2_Missense_Mutation_p.G326E NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 326 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) TTCGCACAGGGGTTTGTTCCT 0.463000 WAC 51322 broad.mit.edu 37 10 28899749 28899749 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:28899749A>C uc001iuf.2 + 9 1372 c.1287A>C c.(1285-1287)CAA>CAC p.Q429H WAC_uc001iud.2_Missense_Mutation_p.Q384H|WAC_uc001iue.2_Missense_Mutation_p.Q119H|WAC_uc001iug.2_Missense_Mutation_p.Q326H|WAC_uc001iuh.2_Missense_Mutation_p.Q381H NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 429 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 TCTCTACACAAGGTATTCTTA 0.338000 KIF5B 3799 broad.mit.edu 37 10 32317437 32317437 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:32317437T>C uc001iwe.3 - 15 2114 c.1644A>G c.(1642-1644)AAA>AAG p.K548K NM_004521 NP_004512 P33176 KINH_HUMAN kinesin family member 5B 548 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(4) lung(4)|ovary(1) 5 Prostate(175;0.0137) CTGCTCGTTTTTTCTGGTGGT 0.353000 FZD8 8325 broad.mit.edu 37 10 35930201 35930201 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:35930201T>C uc001iyz.1 - 1 162 c.157A>G c.(157-159)ATG>GTG p.M53V NM_031866 NP_114072 Q9H461 FZD8_HUMAN frizzled 8 precursor 53 FZ.|Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding 0 TGATTGGGCATGTAGGTGTAG 0.627000 BMS1 9790 broad.mit.edu 37 10 43312891 43312891 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:43312891A>G uc001jaj.2 + 15 2887 c.2529A>G c.(2527-2529)GGA>GGG p.G843G NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 843 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 ATGATGAAGGAGAAAGCACAT 0.393000 OR13A1 79290 broad.mit.edu 37 10 45799853 45799853 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:45799853C>T uc001jcc.1 - 4 327 c.18G>A c.(16-18)GAG>GAA p.E6E OR13A1_uc001jcd.1_Silent_p.E2E NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCAGGTGACTCTCCATCCACA 0.522000 RBP3 5949 broad.mit.edu 37 10 48385883 48385883 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:48385883T>G uc001jez.2 - 2 3323 c.3209A>C c.(3208-3210)AAG>ACG p.K1070T NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 1070 4 X approximate tandem repeats.|4. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) GTGCATGATCTTCTTCCAGAT 0.567000 ERCC6 2074 broad.mit.edu 37 10 50678232 50678232 + Missense_Mutation SNP T T G rs35756610 byFrequency TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:50678232T>G uc001jhs.3 - 18 3928 c.3774A>C c.(3772-3774)AAA>AAC p.K1258N ERCC6_uc009xod.2_Missense_Mutation_p.K418N|ERCC6_uc010qgr.1_Missense_Mutation_p.K628N|ERCC6_uc001jhr.3_Missense_Mutation_p.K626N NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 1258 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 GATTACCTGATTTTTTGAAAA 0.408000 Direct_reversal_of_damage|NER RHOBTB1 9886 broad.mit.edu 37 10 62648482 62648482 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:62648482T>A uc001jli.2 - 7 1382 c.944A>T c.(943-945)AAG>ATG p.K315M RHOBTB1_uc001jlh.2_Missense_Mutation_p.K315M|RHOBTB1_uc001jlj.2_Missense_Mutation_p.K315M|RHOBTB1_uc001jlk.2_Missense_Mutation_p.K315M|RHOBTB1_uc009xpe.1_Missense_Mutation_p.K253M|RHOBTB1_uc001jll.2_Missense_Mutation_p.K65M NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 315 BTB 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) TCTGCTCTGCTTCTCTTTCTC 0.493000 LRRTM3 347731 broad.mit.edu 37 10 68687062 68687062 + Nonsense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:68687062A>T uc001jmz.1 + 2 938 c.388A>T c.(388-390)AGA>TGA p.R130* CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Nonsense_Mutation_p.R130* NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 130 LRR 3.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 CAATACCTTCAGACCTGTGAC 0.398000 HERC4 26091 broad.mit.edu 37 10 69748461 69748461 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:69748461A>C uc001jng.3 - 15 2076 c.1765T>G c.(1765-1767)TTT>GTT p.F589V HERC4_uc009xpq.2_Missense_Mutation_p.F130V|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.F589V|HERC4_uc009xpr.2_Missense_Mutation_p.F589V|HERC4_uc001jni.3_Missense_Mutation_p.F333V|HERC4_uc001jnj.2_Missense_Mutation_p.F589V NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a 589 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 GTATGAAGAAAACTGTTGAAA 0.333000 RUFY2 55680 broad.mit.edu 37 10 70139223 70139223 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:70139223T>G uc001job.2 - 12 1595 c.1268A>C c.(1267-1269)AAA>ACA p.K423T RUFY2_uc001jnz.1_RNA|RUFY2_uc001joa.2_5'Flank|RUFY2_uc001joc.2_Missense_Mutation_p.K354T|RUFY2_uc010qiw.1_Missense_Mutation_p.K330T|RUFY2_uc001jod.1_Missense_Mutation_p.K388T NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain-containing 2 isoform a 437 Potential. nucleus metal ion binding ovary(1) 1 TTTATTGGTTTTTTCTTCTAG 0.264000 CDH23 64072 broad.mit.edu 37 10 73548718 73548718 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:73548718T>G uc001jrx.3 + 43 6219 c.5842T>G c.(5842-5844)TTC>GTC p.F1948V NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1948 Cadherin 18.|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 GCTTCTGATCTTCCTTTCTGA 0.562000 AP3M1 26985 broad.mit.edu 37 10 75884219 75884219 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:75884219T>G uc001jwf.2 - 8 1505 c.1075A>C c.(1075-1077)AAT>CAT p.N359H AP3M1_uc001jwg.2_Missense_Mutation_p.N359H|AP3M1_uc001jwh.2_Missense_Mutation_p.N359H|AP3M1_uc010qla.1_Missense_Mutation_p.N305H NM_207012 NP_996895 Q9Y2T2 AP3M1_HUMAN adaptor-related protein complex 3, mu 1 subunit 359 MHD. protein targeting to lysosome|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus|lysosome protein binding 0 Prostate(51;0.0112) GACTGTAAATTTACCAGTCCT 0.388000 KCNMA1 3778 broad.mit.edu 37 10 78943197 78943197 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:78943197A>C uc001jxn.2 - 5 967 c.790T>G c.(790-792)TTA>GTA p.L264V KCNMA1_uc001jxj.2_Missense_Mutation_p.L264V|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.L84V|KCNMA1_uc001jxo.2_Missense_Mutation_p.L264V|KCNMA1_uc001jxm.2_Missense_Mutation_p.L264V|KCNMA1_uc001jxq.2_Missense_Mutation_p.L264V NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 264 Extracellular (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CTTCTGTTTAAGTACACAGAC 0.498000 MINPP1 9562 broad.mit.edu 37 10 89272956 89272956 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:89272956T>A uc001keu.2 + 3 1361 c.911T>A c.(910-912)GTT>GAT p.V304D MINPP1_uc009xtf.1_Intron|MINPP1_uc001kev.2_Intron NM_004897 NP_004888 Q9UNW1 MINP1_HUMAN multiple inositol polyphosphate histidine 304 bone mineralization|polyphosphate metabolic process endoplasmic reticulum lumen acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity urinary_tract(1) 1 Colorectal(252;0.122) UCEC - Uterine corpus endometrioid carcinoma (6;0.00123) TGGTGTGATGTTTTTGACATA 0.313000 LIPJ 142910 broad.mit.edu 37 10 90356123 90356123 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:90356123T>G uc001kff.2 + 7 840 c.526T>G c.(526-528)TTA>GTA p.L176V NM_001010939 NP_001010939 Q5W064 LIPJ_HUMAN lipase, family member J 176 lipid catabolic process hydrolase activity ovary(1) 1 all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222) Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05) CACAAAGTACTTAAAAAGTCC 0.259000 LIPF 8513 broad.mit.edu 37 10 90428495 90428495 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:90428495T>A uc001kfg.1 + 4 570 c.404T>A c.(403-405)GTT>GAT p.V135D LIPF_uc009xtk.2_Missense_Mutation_p.V135D|LIPF_uc001kfh.1_Missense_Mutation_p.V112D|LIPF_uc010qmt.1_Missense_Mutation_p.V145D|LIPF_uc010qmu.1_Missense_Mutation_p.V102D NM_004190 NP_004181 P07098 LIPG_HUMAN lipase, gastric precursor 135 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity 0 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) CCAGATTCAGTTGAATTCTGG 0.428000 HTR7 3363 broad.mit.edu 37 10 92508893 92508893 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:92508893A>G uc001kha.2 - 2 1241 c.998T>C c.(997-999)GTC>GCC p.V333A HTR7_uc001kgz.2_Missense_Mutation_p.V333A|HTR7_uc001khb.2_Missense_Mutation_p.V333A NM_019859 NP_062873 P34969 5HT7R_HUMAN 5-hydroxytryptamine receptor 7 isoform d 333 Helical; Name=6; (By similarity). blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity ovary(1) 1 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) AAAGGCCCCGACGATGATCCC 0.537000 BTAF1 9044 broad.mit.edu 37 10 93741866 93741866 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:93741866A>T uc001khr.2 + 17 2030 c.1932A>T c.(1930-1932)CAA>CAT p.Q644H BTAF1_uc001khs.1_Missense_Mutation_p.Q314H|BTAF1_uc001kht.1_Missense_Mutation_p.Q82H NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 644 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) AGGTGCGCCAAGGCCAAAGCC 0.423000 GPR120 338557 broad.mit.edu 37 10 95326534 95326534 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:95326534A>C uc010qnt.1 + 1 113 c.57A>C c.(55-57)CAA>CAC p.Q19H GPR120_uc010qnu.1_Missense_Mutation_p.Q19H NM_181745 NP_859529 Q5NUL3 O3FA1_HUMAN G protein-coupled receptor 120 19 Extracellular (Potential). negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport integral to membrane|plasma membrane fatty acid binding 0 Colorectal(252;0.122) GCCTGGAGCAAGCCAACCGCA 0.687000 C10orf129 142827 broad.mit.edu 37 10 96971666 96971666 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:96971666T>G uc001kke.2 + 6 912 c.787T>G c.(787-789)TTG>GTG p.L263V C10orf129_uc009xuu.1_Missense_Mutation_p.L173V NM_207321 NP_997204 Q6P461 ACSM6_HUMAN acyl-coenzyme A synthetase ACSM6, mitochondrial 263 fatty acid metabolic process mitochondrion ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding 0 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) AACAGATGTCTTGTGGAGTCT 0.473000 TM9SF3 56889 broad.mit.edu 37 10 98303924 98303924 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:98303924A>C uc001kmm.3 - 9 1311 c.1094T>G c.(1093-1095)CTT>CGT p.L365R TM9SF3_uc010qot.1_Missense_Mutation_p.L365R|TM9SF3_uc001kmn.1_Missense_Mutation_p.L134R NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 precursor 365 Helical; (Potential). integral to membrane binding 0 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) AGCTGGGATAAGGAATGCCCC 0.363000 SLIT1 6585 broad.mit.edu 37 10 98806540 98806540 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:98806540T>C uc001kmw.2 - 18 1976 c.1724A>G c.(1723-1725)AAC>AGC p.N575S SLIT1_uc009xvh.1_Missense_Mutation_p.N585S NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 575 LRR 13. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) TGACACCTTGTTGTTGCTCAG 0.607000 DNMBP 23268 broad.mit.edu 37 10 101715673 101715673 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:101715673T>C uc001kqj.2 - 4 1650 c.1558A>G c.(1558-1560)AGA>GGA p.R520G NCRNA00093_uc001kqk.1_Intron NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 520 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) ATCTCCAATCTCTCTGAGATG 0.502000 SEC31B 25956 broad.mit.edu 37 10 102267705 102267705 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:102267705T>A uc001krc.1 - 6 701 c.599A>T c.(598-600)AAG>ATG p.K200M SEC31B_uc010qpo.1_Missense_Mutation_p.K199M|SEC31B_uc001krd.1_Translation_Start_Site|SEC31B_uc001krf.1_Translation_Start_Site|SEC31B_uc001kre.1_Translation_Start_Site|SEC31B_uc001krg.1_Translation_Start_Site|SEC31B_uc010qpp.1_Missense_Mutation_p.K203M|SEC31B_uc009xwn.1_Missense_Mutation_p.K200M|SEC31B_uc009xwo.1_Missense_Mutation_p.K200M|SEC31B_uc010qpq.1_Missense_Mutation_p.K43M|SEC31B_uc010qpr.1_RNA NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 200 WD 3. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) AGGTTCATTCTTCCTGAGATC 0.532000 LZTS2 84445 broad.mit.edu 37 10 102762461 102762461 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:102762461T>G uc001ksj.2 + 2 235 c.166T>G c.(166-168)TTC>GTC p.F56V LZTS2_uc010qpw.1_Missense_Mutation_p.F56V|LZTS2_uc001ksk.2_Missense_Mutation_p.F56V|LZTS2_uc001ksl.2_Missense_Mutation_p.F56V|LZTS2_uc001ksm.2_RNA NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 56 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center ovary(2)|large_intestine(1)|breast(1) 4 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GCCCACCTTCTTCCGCCAGCA 0.677000 KCNIP2 30819 broad.mit.edu 37 10 103588422 103588422 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:103588422T>G uc001kub.2 - 5 732 c.380A>C c.(379-381)AAC>ACC p.N127T KCNIP2_uc010qqg.1_Missense_Mutation_p.N71T|KCNIP2_uc001ktx.2_RNA|KCNIP2_uc001kty.2_Missense_Mutation_p.T49P|KCNIP2_uc001ktz.2_Missense_Mutation_p.N82T|KCNIP2_uc009xwu.2_Missense_Mutation_p.N77T|KCNIP2_uc009xwv.2_Missense_Mutation_p.N77T|KCNIP2_uc001kuc.2_Missense_Mutation_p.N142T|KCNIP2_uc001kue.2_Missense_Mutation_p.N109T|KCNIP2_uc001kud.2_Missense_Mutation_p.N84T|KCNIP2_uc001kuf.2_Missense_Mutation_p.N77T|KCNIP2_uc001kua.2_Missense_Mutation_p.N58T|KCNIP2_uc009xww.2_RNA|KCNIP2_uc010qqh.1_Missense_Mutation_p.N82T|KCNIP2_uc010qqi.1_Missense_Mutation_p.N77T NM_173191 NP_775283 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 isoform 2 127 EF-hand 1; degenerate. clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission cytoplasm|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding 0 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) CTGCTTGAAGTTCTCCTCATT 0.562000 PSD 5662 broad.mit.edu 37 10 104164360 104164360 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:104164360C>T uc001kvg.1 - 15 3207 c.2680G>A c.(2680-2682)GCT>ACT p.A894T PSD_uc001kve.1_Missense_Mutation_p.A102T|PSD_uc001kvf.1_Missense_Mutation_p.A263T|PSD_uc001kvh.1_Missense_Mutation_p.A515T|PSD_uc009xxd.1_Missense_Mutation_p.A894T NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 894 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) CGGGTGGCAGCGCTGGGCAGG 0.567000 SFXN2 118980 broad.mit.edu 37 10 104492639 104492639 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:104492639A>C uc001kwb.2 + 9 911 c.745A>C c.(745-747)AGG>CGG p.R249R SFXN2_uc001kwc.2_RNA|SFXN2_uc001kwd.2_RNA NM_178858 NP_849189 Q96NB2 SFXN2_HUMAN sideroflexin 2 249 Helical; (Potential). iron ion homeostasis integral to membrane cation transmembrane transporter activity 0 Colorectal(252;0.207) Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218) CATCATGGAAAGGCTTGAGAA 0.547000 CYP17A1 1586 broad.mit.edu 37 10 104597033 104597033 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:104597033T>A uc001kwg.2 - 1 258 c.86A>T c.(85-87)AAG>ATG p.K29M NM_000102 NP_000093 P05093 CP17A_HUMAN cytochrome P450, family 17 29 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity 0 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) CAGGAGGCTCTTGGGGTACTT 0.572000 PDCD11 22984 broad.mit.edu 37 10 105202143 105202143 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:105202143T>C uc001kwy.1 + 32 4968 c.4881T>C c.(4879-4881)GCT>GCC p.A1627A NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1627 HAT 1. 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) AGTACATGGCTTTCCACCTGC 0.612000 GSTO2 119391 broad.mit.edu 37 10 106058929 106058929 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:106058929A>T uc001kyb.2 + 7 1247 c.619A>T c.(619-621)ATG>TTG p.M207L GSTO2_uc010qqx.1_Missense_Mutation_p.M173L|GSTO2_uc001kyc.2_Missense_Mutation_p.M179L|GSTO2_uc010qqy.1_Missense_Mutation_p.H109L NM_183239 NP_899062 Q9H4Y5 GSTO2_HUMAN glutathione S-transferase omega 2 207 GST C-terminal. water-soluble vitamin metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.178) Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155) Glutathione(DB00143) GATATCAGCCATGAAGTGGGA 0.517000 SORCS3 22986 broad.mit.edu 37 10 106970996 106970996 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:106970996T>G uc001kyi.1 + 17 2590 c.2363T>G c.(2362-2364)CTT>CGT p.L788R SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 788 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CAAAGCTACCTTAACAGCACT 0.463000 DUSP5 1847 broad.mit.edu 37 10 112257917 112257917 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:112257917A>G uc001kzd.2 + 1 293 c.38A>G c.(37-39)AAG>AGG p.K13R NM_004419 NP_004410 Q16690 DUS5_HUMAN dual specificity phosphatase 5 13 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) CAGCTGCGCAAGATGCTCCGC 0.532000 DUSP5 1847 broad.mit.edu 37 10 112257929 112257929 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:112257929A>G uc001kzd.2 + 1 305 c.50A>G c.(49-51)AAG>AGG p.K17R NM_004419 NP_004410 Q16690 DUS5_HUMAN dual specificity phosphatase 5 17 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) ATGCTCCGCAAGGAGGCGGCG 0.522000 ADRA2A 150 broad.mit.edu 37 10 112838854 112838854 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:112838854A>G uc001kzo.2 + 1 2065 c.1100A>G c.(1099-1101)GAG>GGG p.E367G NM_000681 NP_000672 P08913 ADA2A_HUMAN alpha-2A-adrenergic receptor 352 Cytoplasmic (By similarity). PRRGPGATGIGTPAAGPGEERVGAAKASRWRGR -> RGAG RGRRGSGRRLQGRGRSASGLPRRRAGAGG (in Ref. 1; AAA51664 and 2; AAA51665). 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) CCGGGGGAGGAGCGCGTCGGG 0.652000 TDRD1 56165 broad.mit.edu 37 10 115959054 115959054 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:115959054T>G uc001lbg.1 + 4 660 c.507T>G c.(505-507)ACT>ACG p.T169T TDRD1_uc001lbf.2_Silent_p.T160T|TDRD1_uc001lbh.1_Silent_p.T160T|TDRD1_uc001lbi.1_Silent_p.T160T NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 169 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GGTCCACAACTTGCCATCGCT 0.403000 AFAP1L2 84632 broad.mit.edu 37 10 116055820 116055820 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:116055820T>A uc001lbn.2 - 19 2739 c.2438A>T c.(2437-2439)GAG>GTG p.E813V AFAP1L2_uc001lbo.2_Missense_Mutation_p.E809V|AFAP1L2_uc010qse.1_Missense_Mutation_p.E866V|AFAP1L2_uc001lbp.2_Missense_Mutation_p.E837V|AFAP1L2_uc001lbm.2_Missense_Mutation_p.E252V|AFAP1L2_uc010qsd.1_Missense_Mutation_p.E375V|AFAP1L2_uc001lbq.1_3'UTR NM_001001936 NP_001001936 Q8N4X5 AF1L2_HUMAN KIAA1914 protein isoform 1 813 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding ovary(1)|breast(1) 2 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) TCCTTTCTTCTCCCATTCCTA 0.403000 PNLIP 5406 broad.mit.edu 37 10 118320982 118320982 + Splice_Site SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:118320982A>G uc001lcm.2 + 12 1213 c.1170_splice c.e12-2 p.K390_splice NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TTAAATCCTTAGGGGCACTCT 0.244000 ZRANB1 54764 broad.mit.edu 37 10 126631424 126631424 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:126631424A>G uc001lic.2 + 1 733 c.362A>G c.(361-363)CAG>CGG p.Q121R ZRANB1_uc010qug.1_Missense_Mutation_p.Q147R NM_017580 NP_060050 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 121 positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway aggresome|centrosome|intermediate filament cytoskeleton|nucleolus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|kidney(1) 2 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119) GAATCTCCTCAGTCCTCAGGA 0.453000 C10orf137 26098 broad.mit.edu 37 10 127412388 127412388 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:127412388A>C uc001liq.1 + 4 686 c.393A>C c.(391-393)AAA>AAC p.K131N C10orf137_uc001lin.2_Missense_Mutation_p.K131N|C10orf137_uc001lio.1_Missense_Mutation_p.K131N|C10orf137_uc001lip.1_5'UTR NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AGAACATAAAAAAACTCCTGA 0.328000 C10orf90 118611 broad.mit.edu 37 10 128202463 128202463 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:128202463T>G uc001ljq.2 - 2 189 c.68A>C c.(67-69)AAA>ACA p.K23T C10orf90_uc010qum.1_Missense_Mutation_p.K120T|C10orf90_uc009yao.2_Missense_Mutation_p.K120T|C10orf90_uc001ljs.1_5'UTR NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 23 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CTGGAGATTTTTAAGGGCAAT 0.353000 BNIP3 664 broad.mit.edu 37 10 133787304 133787304 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:133787304A>C uc001lkv.1 - 2 316 c.190T>G c.(190-192)TGT>GGT p.C64G BNIP3_uc010qut.1_Missense_Mutation_p.C64G NM_004052 NP_004043 Q12983 BNIP3_HUMAN BCL2/adenovirus E1B 19kD-interacting protein 3 64 cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm GTPase binding|protein heterodimerization activity|protein homodimerization activity lung(1)|skin(1) 2 all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203) Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TACCTGTCACAGTGAGAGCTC 0.512000 NKX6-2 84504 broad.mit.edu 37 10 134598505 134598505 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:134598505T>G uc001llr.2 - 3 834 c.749A>C c.(748-750)AAG>ACG p.K250T NM_177400 NP_796374 Q9C056 NKX62_HUMAN NK6 transcription factor related, locus 2 250 nucleus sequence-specific DNA binding transcription factor activity 0 all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05) CCGCGTGATCTTCTCGTCGTC 0.682000 NUP98 4928 broad.mit.edu 37 11 3712682 3712682 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:3712682A>C uc001lyh.2 - 28 4640 c.4349T>G c.(4348-4350)CTT>CGT p.L1450R NUP98_uc001lyi.2_Missense_Mutation_p.L1450R|NUP98_uc001lyg.2_Missense_Mutation_p.L415R NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 1467 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) ATACGAAGGAAGTGGGGAGCA 0.423000 T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML OR51A4 401666 broad.mit.edu 37 11 4967444 4967444 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:4967444T>C uc010qys.1 - 1 887 c.887A>G c.(886-888)AAA>AGA p.K296R NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGTTTAGTTTTTACACAATA 0.398000 OR51L1 119682 broad.mit.edu 37 11 5020534 5020534 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:5020534A>G uc010qyu.1 + 1 322 c.322A>G c.(322-324)ACA>GCA p.T108A NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTCATCCACACATTCACATT 0.517000 OR51L1 119682 broad.mit.edu 37 11 5021063 5021063 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:5021063T>C uc010qyu.1 + 1 851 c.851T>C c.(850-852)CTT>CCT p.L284P NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 284 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCTACCTTCTTCTTCCCCCA 0.448000 OR51V1 283111 broad.mit.edu 37 11 5220987 5220987 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:5220987A>G uc010qyz.1 - 1 944 c.944T>C c.(943-945)CTC>CCC p.L315P NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 315 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGAGAAAAGAGTCTAAGCAT 0.343000 OR51Q1 390061 broad.mit.edu 37 11 5444107 5444107 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:5444107A>C uc010qzd.1 + 1 677 c.677A>C c.(676-678)AAT>ACT p.N226T 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, 226 Cytoplasmic (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) ATTCTGAAAAATATCTTGGGC 0.488000 OR51I2 390064 broad.mit.edu 37 11 5475026 5475026 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:5475026T>G uc010qzf.1 + 1 308 c.308T>G c.(307-309)CTT>CGT p.L103R HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, 103 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGATGTTTCTTATTCACTTC 0.488000 OR52E6 390078 broad.mit.edu 37 11 5862229 5862229 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:5862229A>C uc010qzq.1 - 1 899 c.899T>G c.(898-900)ATT>AGT p.I300S TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTCTCCCTAATATGTTTGGT 0.433000 OR56A4 120793 broad.mit.edu 37 11 6024227 6024227 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:6024227A>T uc010qzv.1 - 1 152 c.152T>A c.(151-153)CTT>CAT p.L51H NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 200 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCCATGTAAAGTTTCCTGAT 0.468000 OR10A4 283297 broad.mit.edu 37 11 6898191 6898191 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:6898191T>A uc010rat.1 + 1 313 c.313T>A c.(313-315)TTC>ATC p.F105I NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 105 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GATGTATTTCTTCTTCTTTTT 0.517000 NLRP14 338323 broad.mit.edu 37 11 7060994 7060994 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:7060994A>C uc001mfb.1 + 3 662 c.339A>C c.(337-339)CAA>CAC p.Q113H NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 113 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GAGAGACACAAGAAGATCAGG 0.473000 SYT9 143425 broad.mit.edu 37 11 7439233 7439233 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:7439233A>G uc001mfe.2 + 5 1448 c.1211A>G c.(1210-1212)AAG>AGG p.K404R SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 404 Cytoplasmic (Potential).|C2 2. 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) AGACGACTGAAGAAGAGGAAA 0.463000 OLFML1 283298 broad.mit.edu 37 11 7509423 7509423 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:7509423A>T uc001mfi.2 + 2 547 c.195A>T c.(193-195)AAA>AAT p.K65N uc001mff.1_Intron|OLFML1_uc001mfh.1_Missense_Mutation_p.K65N|OLFML1_uc010raz.1_Intron|OLFML1_uc010rba.1_Missense_Mutation_p.K65N NM_198474 NP_940876 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 precursor 65 extracellular region ovary(2) 2 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) AGTTCTCAAAAAATATATCTG 0.423000 DENND5A 23258 broad.mit.edu 37 11 9225542 9225542 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:9225542T>C uc001mhl.2 - 4 869 c.614A>G c.(613-615)AAG>AGG p.K205R DENND5A_uc010rbw.1_Missense_Mutation_p.K205R|DENND5A_uc010rbx.1_RNA NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 205 DENN. liver(1) 1 GCAGATGCACTTAGAGACGTA 0.547000 IPO7 10527 broad.mit.edu 37 11 9446534 9446534 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:9446534A>T uc001mho.2 + 11 1357 c.1215A>T c.(1213-1215)AAA>AAT p.K405N NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 405 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) GTAAGAGGAAAGAGGTAGGCT 0.303000 ZNF143 7702 broad.mit.edu 37 11 9522759 9522759 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:9522759A>C uc001mhr.2 + 11 1207 c.1089A>C c.(1087-1089)GGA>GGC p.G363G ZNF143_uc009yfu.2_Silent_p.G362G|ZNF143_uc010rby.1_Silent_p.G332G NM_003442 NP_003433 P52747 ZN143_HUMAN zinc finger protein 143 363 C2H2-type 5. regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding 0 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) CAGAGCCAGGATGTGGGAGGG 0.438000 MRVI1 10335 broad.mit.edu 37 11 10622466 10622466 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:10622466A>T uc010rcc.1 - 15 2402 c.2016T>A c.(2014-2016)TCT>TCA p.S672S MRVI1_uc001miw.2_Silent_p.S663S|MRVI1_uc010rcb.1_Silent_p.S664S|MRVI1_uc009ygb.1_Silent_p.S357S|MRVI1_uc001mix.2_Silent_p.S357S|MRVI1_uc001miz.2_Silent_p.S581S|MRVI1_uc009ygc.1_Silent_p.S581S|MRVI1_uc010rcd.1_Silent_p.S466S|MRVI1_uc009ygd.1_Silent_p.S357S|MRVI1_uc010rce.1_RNA NM_001100167 NP_001093637 Q9Y6F6 MRVI1_HUMAN JAW1-related protein isoform c 645 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum ovary(2)|central_nervous_system(1) 3 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) GGTCCTTACCAGAGGGGCCAC 0.507000 ARNTL 406 broad.mit.edu 37 11 13388329 13388329 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:13388329A>T uc001mkr.2 + 11 1078 c.670A>T c.(670-672)ACT>TCT p.T224S ARNTL_uc001mko.2_Missense_Mutation_p.T181S|ARNTL_uc001mkp.2_Missense_Mutation_p.T224S|ARNTL_uc001mkq.2_Missense_Mutation_p.T224S|ARNTL_uc001mks.2_Missense_Mutation_p.T181S|ARNTL_uc001mkt.2_Missense_Mutation_p.T224S|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Missense_Mutation_p.T181S|ARNTL_uc001mkv.1_Missense_Mutation_p.T181S|ARNTL_uc001mkw.2_Missense_Mutation_p.T181S|ARNTL_uc001mkx.2_Missense_Mutation_p.T222S NM_001178 NP_001169 O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear 224 circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity 0 Epithelial(150;0.0243) AGATGCAAAAAGTGAGTACCA 0.557000 NAV2 89797 broad.mit.edu 37 11 19955499 19955499 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:19955499A>T uc010rdm.1 + 8 2139 c.1778A>T c.(1777-1779)AAA>ATA p.K593I NAV2_uc001mpp.2_Missense_Mutation_p.K506I|NAV2_uc001mpr.3_Missense_Mutation_p.K570I NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 593 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 CCAGGAATGAAAAGCATGCCC 0.597000 SLC17A6 57084 broad.mit.edu 37 11 22396414 22396414 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:22396414A>T uc001mqk.2 + 9 1568 c.1155A>T c.(1153-1155)AGA>AGT p.R385S NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 385 Cytoplasmic (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 CGACAGTGAGAAAGATCATGA 0.368000 SLC5A12 159963 broad.mit.edu 37 11 26725161 26725161 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:26725161A>C uc001mra.2 - 6 1051 c.738T>G c.(736-738)ACT>ACG p.T246T SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Silent_p.T246T NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 246 Helical; (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 GCCAAGTAAAAGTTCCTCCCA 0.413000 BDNF 627 broad.mit.edu 37 11 27679542 27679542 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:27679542A>C uc010rdu.1 - 2 1421 c.570T>G c.(568-570)GGT>GGG p.G190G BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Silent_p.G190G|BDNF_uc001mrt.2_Silent_p.G205G|BDNF_uc010rdw.1_Silent_p.G190G|BDNF_uc009yjd.2_Silent_p.G190G|BDNF_uc001mru.2_Silent_p.G190G|BDNF_uc010rdx.1_Silent_p.G190G|BDNF_uc010rdy.1_Silent_p.G190G|BDNF_uc009yjg.2_Silent_p.G190G|BDNF_uc009yje.2_Silent_p.G272G|BDNF_uc009yjf.2_Silent_p.G219G|BDNF_uc001mrv.2_Silent_p.G190G|BDNF_uc001mrw.3_Silent_p.G190G|BDNF_uc001mrx.2_Silent_p.G190G|BDNF_uc001mry.3_Silent_p.G190G|BDNF_uc001mrz.3_Silent_p.G190G|BDNF_uc001msa.2_Silent_p.G198G NM_001143816 NP_001137288 P23560 BDNF_HUMAN brain-derived neurotrophic factor isoform a 190 extracellular region growth factor activity 0 CTTTTGTGTAACCCATGGGAT 0.517000 BDNF 627 broad.mit.edu 37 11 27679792 27679792 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:27679792A>G uc010rdu.1 - 2 1171 c.320T>C c.(319-321)CTC>CCC p.L107P BDNFOS_uc001mrm.2_RNA|BDNFOS_uc009yij.2_RNA|BDNFOS_uc009yik.2_RNA|BDNFOS_uc009yil.2_RNA|BDNFOS_uc001mrp.2_RNA|BDNFOS_uc009yim.2_RNA|BDNFOS_uc009yin.2_RNA|BDNFOS_uc009yio.2_RNA|BDNFOS_uc009yip.2_RNA|BDNFOS_uc001mrn.2_RNA|BDNFOS_uc009yiq.2_RNA|BDNFOS_uc001mro.2_RNA|BDNFOS_uc009yir.2_RNA|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_RNA|BDNFOS_uc009yiu.2_RNA|BDNFOS_uc009yiv.2_RNA|BDNFOS_uc009yiw.2_RNA|BDNFOS_uc009yix.2_RNA|BDNFOS_uc009yiy.2_RNA|BDNFOS_uc009yiz.2_RNA|BDNFOS_uc001mrq.3_RNA|BDNFOS_uc001mrr.3_RNA|BDNFOS_uc009yja.2_RNA|BDNFOS_uc009yjb.2_RNA|BDNF_uc010rdv.1_Missense_Mutation_p.L107P|BDNF_uc001mrt.2_Missense_Mutation_p.L122P|BDNF_uc010rdw.1_Missense_Mutation_p.L107P|BDNF_uc009yjd.2_Missense_Mutation_p.L107P|BDNF_uc001mru.2_Missense_Mutation_p.L107P|BDNF_uc010rdx.1_Missense_Mutation_p.L107P|BDNF_uc010rdy.1_Missense_Mutation_p.L107P|BDNF_uc009yjg.2_Missense_Mutation_p.L107P|BDNF_uc009yje.2_Missense_Mutation_p.L189P|BDNF_uc009yjf.2_Missense_Mutation_p.L136P|BDNF_uc001mrv.2_Missense_Mutation_p.L107P|BDNF_uc001mrw.3_Missense_Mutation_p.L107P|BDNF_uc001mrx.2_Missense_Mutation_p.L107P|BDNF_uc001mry.3_Missense_Mutation_p.L107P|BDNF_uc001mrz.3_Missense_Mutation_p.L107P|BDNF_uc001msa.2_Missense_Mutation_p.L115P NM_001143816 NP_001137288 P23560 BDNF_HUMAN brain-derived neurotrophic factor isoform a 107 extracellular region growth factor activity 0 CAGCAGAAAGAGAAGAGGAGG 0.532000 PAMR1 25891 broad.mit.edu 37 11 35547122 35547122 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:35547122A>G uc001mwg.2 - 1 55 c.12T>C c.(10-12)GGT>GGC p.G4G PAMR1_uc001mwf.2_Silent_p.G4G|PAMR1_uc010rew.1_Silent_p.G4G|PAMR1_uc010rex.1_Intron NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 4 proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 GCGTCCAGCAACCCAGCTCCA 0.637000 SYT13 57586 broad.mit.edu 37 11 45265838 45265838 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:45265838T>G uc001myq.2 - 6 1172 c.1046A>C c.(1045-1047)AAG>ACG p.K349T SYT13_uc009yku.1_Missense_Mutation_p.K205T NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 349 C2 2.|Cytoplasmic (Potential). transport vesicle ovary(1) 1 GATCTTGTGCTTAGCTCGTTT 0.557000 AGBL2 79841 broad.mit.edu 37 11 47689161 47689161 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:47689161T>G uc001ngg.2 - 15 2402 c.2302A>C c.(2302-2304)AAT>CAT p.N768H AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.N730H NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN carboxypeptidase 2, cytosolic 768 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 TGCATCAAATTTTTTTTCTGA 0.353000 OR5D13 390142 broad.mit.edu 37 11 55541717 55541717 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:55541717T>G uc010ril.1 + 1 804 c.804T>G c.(802-804)ACT>ACG p.T268T NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 268 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) ATCCTAAAACTTCTAGCCTCA 0.438000 OR5D16 390144 broad.mit.edu 37 11 55606614 55606614 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:55606614C>T uc010rio.1 + 1 387 c.387C>T c.(385-387)TGC>TGT p.C129C NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 129 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) TGGCCATTTGCAATCCTCTGC 0.463000 SPRYD5 84767 broad.mit.edu 37 11 55658772 55658772 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:55658772T>C uc010rip.1 + 7 1115 c.1023T>C c.(1021-1023)TAT>TAC p.Y341Y SPRYD5_uc010riq.1_Silent_p.Y198Y NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 341 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) CTGGCAAATATTATTGGGAGG 0.428000 OR5M11 219487 broad.mit.edu 37 11 56309940 56309940 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:56309940T>G uc010rjl.1 - 1 794 c.794A>C c.(793-795)AAG>ACG p.K265T NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTCAACAGTCTTATCTGTTGG 0.418000 OR1S2 219958 broad.mit.edu 37 11 57971212 57971212 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:57971212A>C uc010rkb.1 - 1 442 c.442T>G c.(442-444)TTC>GTC p.F148V NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, 148 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) GCCCGCATGAAAGTTGTATAG 0.463000 OR4D10 390197 broad.mit.edu 37 11 59244981 59244981 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:59244981T>G uc001nnz.1 + 1 79 c.79T>G c.(79-81)TTA>GTA p.L27V NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 27 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GAGCTTAGTCTTATTTCTTTT 0.433000 PATL1 219988 broad.mit.edu 37 11 59410351 59410351 + Splice_Site SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:59410351A>G uc001noe.3 - 16 2192 c.2049_splice c.e16+1 p.K683_splice NM_152716 NP_689929 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding ovary(1) 1 GGGCAAGATCACCTTGTTCTG 0.433000 MS4A7 58475 broad.mit.edu 37 11 60152695 60152695 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:60152695T>C uc001npe.2 + 3 427 c.282T>C c.(280-282)TGT>TGC p.C94C MS4A7_uc001npf.2_Silent_p.C94C|MS4A7_uc001npg.2_Intron|MS4A7_uc001nph.2_Intron|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Intron NM_206939 NP_996822 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 94 Helical; (Potential). integral to membrane receptor activity ovary(1)|central_nervous_system(1) 2 GAGCTCTGTGTGTGAGTAGAA 0.498000 AHNAK 79026 broad.mit.edu 37 11 62286461 62286461 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:62286461A>C uc001ntl.2 - 5 15728 c.15428T>G c.(15427-15429)GTC>GGC p.V5143G AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 5143 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGGCATCTTGACCTTGGGAGC 0.522000 SLC22A9 114571 broad.mit.edu 37 11 63175638 63175638 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:63175638T>C uc001nww.2 + 8 1611 c.1343T>C c.(1342-1344)CTT>CCT p.L448P SLC22A9_uc001nwx.2_Intron NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion/cation 448 Helical; (Potential). transmembrane transport integral to membrane breast(2)|large_intestine(1) 3 GCGTCTGCTCTTGCCAATACC 0.478000 SLC22A9 114571 broad.mit.edu 37 11 63177296 63177296 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:63177296A>C uc001nww.2 + 10 1892 c.1624A>C c.(1624-1626)AAG>CAG p.K542Q SLC22A9_uc001nwx.2_RNA NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion/cation 542 Cytoplasmic (Potential). transmembrane transport integral to membrane breast(2)|large_intestine(1) 3 CAGAGAACCAAAGCAAGAGGA 0.423000 RTN3 10313 broad.mit.edu 37 11 63487765 63487765 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:63487765A>C uc001nxq.2 + 3 1978 c.1791A>C c.(1789-1791)GAA>GAC p.E597D RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.E578D|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.E485D|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 597 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 ATGTGAGTGAAGTTGCTCCTG 0.408000 CATSPER1 117144 broad.mit.edu 37 11 65792743 65792743 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:65792743T>C uc001ogt.2 - 1 1246 c.1108A>G c.(1108-1110)ATC>GTC p.I370V NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN sperm-associated cation channel 1 370 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding ovary(2) 2 CGTGAGCGGATTGTGCTGGAG 0.552000 B3GNT1 11041 broad.mit.edu 37 11 66113626 66113626 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:66113626T>G uc001ohr.2 - 2 1287 c.1142A>C c.(1141-1143)AAG>ACG p.K381T BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank NM_006876 NP_006867 O43505 B3GN1_HUMAN UDP-GlcNAc:betaGal 381 Lumenal (Potential). poly-N-acetyllactosamine biosynthetic process integral to Golgi membrane N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity 0 GGGATGGAACTTCAACGCTTC 0.502000 CTSF 8722 broad.mit.edu 37 11 66333365 66333365 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:66333365T>A uc001oip.2 - 7 991 c.901A>T c.(901-903)ACA>TCA p.T301S NM_003793 NP_003784 Q9UBX1 CATF_HUMAN cathepsin F precursor 301 proteolysis lysosome cysteine-type endopeptidase activity 0 ACATTGCCTGTGACTGAGAAG 0.612000 ALDH3B1 221 broad.mit.edu 37 11 67789236 67789236 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:67789236T>G uc010rpy.1 + 8 961 c.845T>G c.(844-846)CTG>CGG p.L282R ALDH3B1_uc001omz.2_Missense_Mutation_p.L282R|ALDH3B1_uc001ona.2_Missense_Mutation_p.L245R|ALDH3B1_uc001onb.2_RNA NM_001161473 NP_001154945 P43353 AL3B1_HUMAN aldehyde dehydrogenase 3B1 isoform a 282 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase 0 NADH(DB00157) TCCCCAAACCTGGGCCGCATC 0.627000 OREG0021141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CTTN 2017 broad.mit.edu 37 11 70279801 70279801 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:70279801T>C uc001opv.3 + 17 1699 c.1493T>C c.(1492-1494)GTC>GCC p.V498A CTTN_uc001opu.2_Missense_Mutation_p.V461A|CTTN_uc001opw.3_Missense_Mutation_p.V461A|CTTN_uc010rqm.1_Missense_Mutation_p.V182A|CTTN_uc001opx.2_Missense_Mutation_p.V182A NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 498 SH3. cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) ATCACAGCCGTCGCCCTGTAC 0.547000 KRTAP5-9 3846 broad.mit.edu 37 11 71260091 71260091 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:71260091T>G uc001oqs.1 + 1 626 c.388T>G c.(388-390)TGC>GGC p.C130G NM_005553 NP_005544 P26371 KRA59_HUMAN keratin associated protein 5-9 130 8 X 4 AA repeats of C-C-X-P.|6. epidermis development keratin filament 0 CCAATCCAGCTGCTGCAAGCC 0.627000 FOLR3 2352 broad.mit.edu 37 11 71850819 71850819 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:71850819T>G uc001ory.1 + 5 858 c.808T>G c.(808-810)TTC>GTC p.F270V FOLR3_uc001orx.1_Missense_Mutation_p.F228V P41439 FOLR3_HUMAN SubName: Full=FOLR3 protein; Flags: Fragment; 226 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity 0 Folic Acid(DB00158) GGTGGCCAAGTTCTATGCTGC 0.547000 C2CD3 26005 broad.mit.edu 37 11 73785595 73785595 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:73785595A>C uc001ouu.2 - 24 4881 c.4654T>G c.(4654-4656)TTG>GTG p.L1552V C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1552 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) TGAACTCGCAAGGCAGCTCCT 0.502000 P4HA3 283208 broad.mit.edu 37 11 73996867 73996867 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:73996867A>G uc001ouz.2 - 7 1140 c.1097T>C c.(1096-1098)CTT>CCT p.L366P P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.L366P NM_182904 NP_878907 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha III subunit 366 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity skin(1) 1 Breast(11;2.31e-05) TGGTTCTGCAAGTTCTCTAAT 0.498000 PGM2L1 283209 broad.mit.edu 37 11 74058298 74058298 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:74058298T>C uc001ovb.1 - 7 1130 c.834A>G c.(832-834)AAA>AAG p.K278K NM_173582 NP_775853 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 278 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity ovary(1) 1 Breast(11;3.32e-06) AACCAAACACTTTAAAAGCCA 0.403000 NEU3 10825 broad.mit.edu 37 11 74717517 74717517 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:74717517A>G uc001ovw.2 + 3 1522 c.1366A>G c.(1366-1368)AGC>GGC p.S456G NEU3_uc001ovv.2_Missense_Mutation_p.S446G|NEU3_uc010rrl.1_Missense_Mutation_p.S347G|uc010rrm.1_5'Flank|uc001ovx.1_5'Flank NM_006656 NP_006647 A8K327 A8K327_HUMAN sialidase 3 456 ovary(2) 2 TAGGAACCCAAGCCAATTCAA 0.483000 MYO7A 4647 broad.mit.edu 37 11 76917198 76917198 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:76917198A>T uc001oyb.2 + 41 5965 c.5693A>T c.(5692-5694)AAG>ATG p.K1898M MYO7A_uc001oyc.2_Missense_Mutation_p.K1860M|MYO7A_uc001oye.2_RNA NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 1898 actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 ATCCAGCACAAGACCACCCAG 0.542000 CLNS1A 1207 broad.mit.edu 37 11 77336835 77336835 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:77336835T>G uc001oyk.2 - 3 383 c.291A>C c.(289-291)GAA>GAC p.E97D CLNS1A_uc001oyl.2_Intron NM_001293 NP_001284 P54105 ICLN_HUMAN chloride channel, nucleotide-sensitive, 1A 97 blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly cytoskeleton|cytosol|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19) Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) CTTCCTCTTCTTCATCAGCAA 0.308000 ODZ4 26011 broad.mit.edu 37 11 78380755 78380755 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:78380755A>G uc001ozl.3 - 32 7098 c.6635T>C c.(6634-6636)CTC>CCC p.L2212P ODZ4_uc001ozk.3_Missense_Mutation_p.L437P|ODZ4_uc009yvb.1_Missense_Mutation_p.L796P NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2212 Extracellular (Potential).|YD 18. signal transduction integral to membrane ovary(2)|pancreas(2) 4 GTAGCGCCAGAGTGGCTTGTC 0.557000 ODZ4 26011 broad.mit.edu 37 11 78381295 78381295 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:78381295A>C uc001ozl.3 - 32 6558 c.6095T>G c.(6094-6096)TTC>TGC p.F2032C ODZ4_uc001ozk.3_Missense_Mutation_p.F257C|ODZ4_uc009yvb.1_Missense_Mutation_p.F616C NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2032 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 GTCATAGGTGAAACTGACCTT 0.537000 ODZ4 26011 broad.mit.edu 37 11 78413446 78413446 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:78413446A>C uc001ozl.3 - 28 4675 c.4212T>G c.(4210-4212)GTT>GTG p.V1404V ODZ4_uc009yvb.1_5'UTR NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1404 Extracellular (Potential).|NHL 4. signal transduction integral to membrane ovary(2)|pancreas(2) 4 ACTCCAGGTGAACCTGACAAT 0.418000 CCDC81 60494 broad.mit.edu 37 11 86111788 86111788 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:86111788T>A uc001pbx.1 + 7 1254 c.826T>A c.(826-828)TTG>ATG p.L276M CCDC81_uc001pbw.1_Missense_Mutation_p.L186M|CCDC81_uc010rtq.1_Missense_Mutation_p.L59M|CCDC81_uc001pby.1_Missense_Mutation_p.L59M NM_001156474 NP_001149946 Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 isoform 1 276 skin(1) 1 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) AAATGTCAGCTTGCTGGAAAA 0.368000 FAT3 120114 broad.mit.edu 37 11 92088050 92088050 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:92088050T>G uc001pdj.3 + 1 2789 c.2772T>G c.(2770-2772)GTT>GTG p.V924V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 924 Cadherin 8.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTCTTAAAGTTTTTTTAGATG 0.443000 TCGA Ovarian(4;0.039) PIWIL4 143689 broad.mit.edu 37 11 94308224 94308224 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:94308224A>C uc001pfa.2 + 3 437 c.226A>C c.(226-228)AAC>CAC p.N76H PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN piwi-like 4 76 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding skin(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AGGTGTGAAAAACAAACAGGA 0.343000 SESN3 143686 broad.mit.edu 37 11 94918633 94918633 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:94918633A>C uc001pfk.1 - 5 771 c.549T>G c.(547-549)AAT>AAG p.N183K SESN3_uc010rug.1_Missense_Mutation_p.N44K|SESN3_uc001pfl.2_Missense_Mutation_p.N183K NM_144665 NP_653266 P58005 SESN3_HUMAN sestrin 3 183 cell cycle arrest nucleus 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) GAGACCAATTATTTTCTCCAG 0.363000 TRPC6 7225 broad.mit.edu 37 11 101375353 101375353 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:101375353T>G uc001pgk.3 - 2 772 c.347A>C c.(346-348)AAG>ACG p.K116T TRPC6_uc009ywy.2_Missense_Mutation_p.K116T|TRPC6_uc009ywz.1_Missense_Mutation_p.K116T NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 116 Cytoplasmic (Potential).|ANK 1. axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TTCTAACATCTTCCGCACCAC 0.468000 C11orf70 85016 broad.mit.edu 37 11 101953825 101953825 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:101953825T>G uc001pgp.2 + 7 727 c.699T>G c.(697-699)CCT>CCG p.P233P C11orf70_uc001pgq.2_Silent_p.P195P NM_032930 NP_116319 Q9BRQ4 CK070_HUMAN hypothetical protein LOC85016 233 skin(1) 1 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) TGTGCTATCCTTCAGCAAAGA 0.279000 MMP27 64066 broad.mit.edu 37 11 102573756 102573756 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:102573756T>G uc001phd.1 - 3 458 c.435A>C c.(433-435)AAA>AAC p.K145N NM_022122 NP_071405 Q9H306 MMP27_HUMAN matrix metalloproteinase 27 precursor 145 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) TCTTGGTGAATTTTAGTGGAG 0.403000 MMP12 4321 broad.mit.edu 37 11 102742578 102742578 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:102742578A>T uc001phk.2 - 3 500 c.455T>A c.(454-456)ATT>AAT p.I152N NM_002426 NP_002417 P39900 MMP12_HUMAN matrix metalloproteinase 12 preproprotein 152 positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) GCCTGTGTTAATCTTGCTGAA 0.413000 DYNC2H1 79659 broad.mit.edu 37 11 103058252 103058252 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:103058252A>C uc001pho.2 + 43 7221 c.7077A>C c.(7075-7077)AAA>AAC p.K2359N DYNC2H1_uc001phn.1_Missense_Mutation_p.K2359N|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2359 AAA 3 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TGTACTTAAAAGATATCAACC 0.383000 CARD17 440068 broad.mit.edu 37 11 104971470 104971470 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:104971470C>T uc001pir.1 - 2 61 c.44G>A c.(43-45)CGT>CAT p.R15H CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron NM_001007232 NP_001007233 Q5XLA6 CAR17_HUMAN caspase recruitment domain family, member 17 15 CARD. proteolysis|regulation of apoptosis cytoplasm cysteine-type endopeptidase activity|cysteine-type endopeptidase inhibitor activity ovary(1) 1 GCCCACTGAACGGATAAACTG 0.428000 EXPH5 23086 broad.mit.edu 37 11 108380425 108380425 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:108380425T>C uc001pkk.2 - 6 5920 c.5809A>G c.(5809-5811)AGC>GGC p.S1937G EXPH5_uc010rvy.1_Missense_Mutation_p.S1749G|EXPH5_uc010rvz.1_Missense_Mutation_p.S1781G|EXPH5_uc010rwa.1_Missense_Mutation_p.S1861G NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1937 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GAATTTGAGCTTAATGACTCT 0.438000 DDX10 1662 broad.mit.edu 37 11 108559688 108559688 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:108559688T>G uc001pkm.2 + 7 939 c.874T>G c.(874-876)TAC>GAC p.Y292D DDX10_uc001pkl.1_Missense_Mutation_p.Y292D NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 292 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) GGAACAGAACTACATAGTCTG 0.373000 T NUP98 AML* LAYN 143903 broad.mit.edu 37 11 111431129 111431129 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:111431129A>C uc001plr.1 + 8 1431 c.1095A>C c.(1093-1095)CAA>CAC p.Q365H LAYN_uc001plp.1_Missense_Mutation_p.Q357H|LAYN_uc001plq.1_3'UTR|LAYN_uc001pls.1_3'UTR|LAYN_uc010rwg.1_Missense_Mutation_p.Q212H|LAYN_uc010rwh.1_Missense_Mutation_p.Q213H NM_178834 NP_849156 Q6UX15 LAYN_HUMAN layilin 365 Cytoplasmic (Potential).|3 X 5 AA repeats of E-S-G-X-V.|Interaction with NF2 (By similarity).|2 X 4 AA repeats of N-X-I-Y.|Interaction with TLN1 (By similarity). cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding 0 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) CCCCAGACCAAATGGGGAGGA 0.408000 DIXDC1 85458 broad.mit.edu 37 11 111856042 111856042 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:111856042A>C uc001pml.2 + 9 1302 c.1005A>C c.(1003-1005)CAA>CAC p.Q335H DIXDC1_uc001pmm.2_Missense_Mutation_p.Q124H|DIXDC1_uc001pmn.2_Missense_Mutation_p.Q41H NM_001037954 NP_001033043 Q155Q3 DIXC1_HUMAN DIX domain containing 1 isoform a 335 Potential. multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity ovary(1) 1 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) CCGAGGAACAACTGGTGAGCT 0.343000 FAM55A 120400 broad.mit.edu 37 11 114392898 114392898 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:114392898T>G uc001ppa.2 - 6 1427 c.1010A>C c.(1009-1011)AAC>ACC p.N337T FAM55A_uc010rxd.1_Missense_Mutation_p.N186T NM_152315 NP_689528 Q8N323 FA55A_HUMAN hypothetical protein LOC120400 479 extracellular region 0 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) CTCCCTGATGTTTTCTGTCTT 0.413000 APOA1 335 broad.mit.edu 37 11 116706799 116706799 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:116706799G>A uc001ppu.1 - 4 608 c.529C>T c.(529-531)CGC>TGC p.R177C APOA1_uc001ppv.1_Missense_Mutation_p.R177C NM_000039 NP_000030 P02647 APOA1_HUMAN apolipoprotein A-I preproprotein 177 6.|10 X approximate tandem repeats. Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148) ACATGGGCGCGCGCGCGGTCG 0.716000 SIDT2 51092 broad.mit.edu 37 11 117060709 117060709 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:117060709C>T uc001pqh.1 + 16 1502 c.1461C>T c.(1459-1461)AAC>AAT p.N487N SIDT2_uc010rxe.1_Silent_p.N487N|SIDT2_uc001pqg.2_Silent_p.N508N|SIDT2_uc001pqi.1_Silent_p.N484N|SIDT2_uc001pqj.1_5'Flank NM_001040455 NP_001035545 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 precursor 487 Extracellular (Potential). integral to membrane|lysosomal membrane 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) GCTACTACAACTTCCTCTGCG 0.622000 DSCAML1 57453 broad.mit.edu 37 11 117389449 117389449 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:117389449G>A uc001prh.1 - 7 1424 c.1422C>T c.(1420-1422)TTC>TTT p.F474F DSCAML1_uc001pri.1_Silent_p.F278F NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 414 Extracellular (Potential).|Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCTTCTCGCTGAAGGACGAGA 0.682000 DSCAML1 57453 broad.mit.edu 37 11 117391952 117391952 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:117391952T>A uc001prh.1 - 6 1288 c.1286A>T c.(1285-1287)GAG>GTG p.E429V DSCAML1_uc001pri.1_Missense_Mutation_p.E233V NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 369 Extracellular (Potential).|Ig-like C2-type 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GAGCAGCGTCTCGTTGCTGAG 0.637000 TBCEL 219899 broad.mit.edu 37 11 120957516 120957516 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:120957516A>C uc009zay.2 + 8 1064 c.986A>C c.(985-987)AAG>ACG p.K329T TBCEL_uc001pxo.2_Missense_Mutation_p.K329T|TBCEL_uc001pxp.2_Missense_Mutation_p.K185T|TBCEL_uc001pxq.2_RNA NM_001130047 NP_001123519 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 329 cytoplasm|cytoskeleton skin(1) 1 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) AAATATGGGAAGTTGGAGCCT 0.433000 TECTA 7007 broad.mit.edu 37 11 121039448 121039448 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:121039448A>G uc010rzo.1 + 19 5813 c.5813A>G c.(5812-5814)AAA>AGA p.K1938R NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1938 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCTCTCTACAAAAACGCCTCC 0.458000 OR6T1 219874 broad.mit.edu 37 11 123814347 123814347 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:123814347A>G uc010sab.1 - 1 199 c.199T>C c.(199-201)TCC>CCC p.S67P NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TCCAGGAAGGAGAAATTCCGC 0.493000 SLC37A2 219855 broad.mit.edu 37 11 124952150 124952150 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:124952150A>G uc001qbn.2 + 10 1147 c.896A>G c.(895-897)GAG>GGG p.E299G SLC37A2_uc010sau.1_Missense_Mutation_p.E299G|SLC37A2_uc010sav.1_5'Flank|SLC37A2_uc001qbp.2_5'Flank NM_001145290 NP_001138762 Q8TED4 SPX2_HUMAN solute carrier family 37 (glycerol-3-phosphate 299 carbohydrate transport|transmembrane transport integral to membrane ovary(2) 2 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) GGCGTGGTCGAGTTCTCTCTG 0.468000 HYLS1 219844 broad.mit.edu 37 11 125769999 125769999 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:125769999C>T uc009zbv.2 + 4 1270 c.736C>T c.(736-738)CTT>TTT p.L246F HYLS1_uc001qcx.3_Missense_Mutation_p.L246F|PUS3_uc001qcy.2_Intron NM_145014 NP_659451 Q96M11 HYLS1_HUMAN hydrolethalus syndrome 1 246 centrosome|nucleus upper_aerodigestive_tract(1) 1 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446) AGAGCAGATGCTTTGTCGAGC 0.468000 ARHGAP32 9743 broad.mit.edu 37 11 128842931 128842931 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:128842931T>C uc009zcp.2 - 21 3428 c.3428A>G c.(3427-3429)CAC>CGC p.H1143R ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.H102R|ARHGAP32_uc001qez.2_Missense_Mutation_p.H794R NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1143 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 GTCTACTTGGTGATGTTGCTC 0.463000 BARX2 8538 broad.mit.edu 37 11 129321257 129321257 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:129321257A>C uc001qfc.3 + 4 850 c.800A>C c.(799-801)GAG>GCG p.E267A NM_003658 NP_003649 Q9UMQ3 BARX2_HUMAN BarH-like homeobox 2 267 0 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) CCGCCCCAGGAGTTGCCAATA 0.567000 TMEM45B 120224 broad.mit.edu 37 11 129727278 129727278 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:129727278T>G uc001qfe.1 + 5 702 c.641T>G c.(640-642)TTC>TGC p.F214C TMEM45B_uc001qff.1_Missense_Mutation_p.F214C NM_138788 NP_620143 Q96B21 TM45B_HUMAN transmembrane protein 45B 214 Helical; (Potential). integral to membrane 0 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) AACCTCATGTTCATCACCATG 0.493000 ZBTB44 29068 broad.mit.edu 37 11 130131610 130131610 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:130131610A>C uc001qga.2 - 2 553 c.159T>G c.(157-159)AGT>AGG p.S53R ZBTB44_uc001qgb.3_Missense_Mutation_p.S53R|ZBTB44_uc001qfx.2_RNA|ZBTB44_uc001qgc.1_Missense_Mutation_p.S53R|ZBTB44_uc001qfz.2_Missense_Mutation_p.S53R NM_014155 NP_054874 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 53 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) GAAAGAAATCACTGCAAGCTG 0.428000 NCAPD3 23310 broad.mit.edu 37 11 134026966 134026966 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:134026966T>C uc001qhd.1 - 32 4805 c.4199A>G c.(4198-4200)GAG>GGG p.E1400G NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.E350G NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1400 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GCCATTCGACTCTTGCTCCAA 0.498000 KDM5A 5927 broad.mit.edu 37 12 461399 461399 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:461399T>C uc001qif.1 - 9 1484 c.1121A>G c.(1120-1122)AAG>AGG p.K374R KDM5A_uc001qie.1_Missense_Mutation_p.K374R|KDM5A_uc010sdn.1_Missense_Mutation_p.K333R|KDM5A_uc010sdo.1_Intron NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 374 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 ATAATCAGACTTAAAATTATC 0.413000 T NUP98 AML WNK1 65125 broad.mit.edu 37 12 1005569 1005569 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:1005569A>T uc001qio.3 + 24 6423 c.5916A>T c.(5914-5916)AAA>AAT p.K1972N WNK1_uc001qip.3_Missense_Mutation_p.K1724N|WNK1_uc001qir.3_Missense_Mutation_p.K1145N NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1972 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) ACACAAAGAAAGAAGGACCAG 0.448000 ADIPOR2 79602 broad.mit.edu 37 12 1893087 1893087 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:1893087T>G uc001qjm.2 + 7 1077 c.880T>G c.(880-882)TTG>GTG p.L294V ADIPOR2_uc001qjn.2_Missense_Mutation_p.L294V NM_024551 NP_078827 Q86V24 ADR2_HUMAN adiponectin receptor 2 294 Helical; Name=5; (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity 0 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) CATTCCTACCTTGCACTATGT 0.507000 ITFG2 55846 broad.mit.edu 37 12 2930009 2930009 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:2930009T>A uc001qlb.1 + 6 730 c.666T>A c.(664-666)CCT>CCA p.P222P ITFG2_uc010seb.1_Silent_p.P45P|ITFG2_uc010sec.1_RNA NM_018463 NP_060933 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 222 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GGTCCCCTCCTGCCTCTGAAG 0.582000 GALNT8 26290 broad.mit.edu 37 12 4874640 4874640 + Silent SNP G G C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:4874640G>C uc001qne.1 + 10 1781 c.1689G>C c.(1687-1689)GCG>GCC p.A563A NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 563 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 CTGGCAAGGCGGAGAAGCCCA 0.463000 VWF 7450 broad.mit.edu 37 12 6103171 6103171 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:6103171T>A uc001qnn.1 - 37 6705 c.6455A>T c.(6454-6456)AAG>ATG p.K2152M VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2152 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) AGCCAGGACCTTGTGGCATTC 0.597000 VWF 7450 broad.mit.edu 37 12 6125799 6125799 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:6125799C>T uc001qnn.1 - 30 5444 c.5194G>A c.(5194-5196)GTG>ATG p.V1732M VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1732 VWFA 3; main binding site for collagens type I and III. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) TACTGCAGCACTGACACCTGA 0.527000 VWF 7450 broad.mit.edu 37 12 6128379 6128379 + Missense_Mutation SNP T T C rs63749069 TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:6128379T>C uc001qnn.1 - 28 4455 c.4205A>G c.(4204-4206)CAG>CGG p.Q1402R VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1402 VWFA 1; binding site for platelet glycoprotein Ib. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CTTCAGGCCCTGGACGTAGCG 0.607000 CD163L1 283316 broad.mit.edu 37 12 7531781 7531781 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:7531781T>G uc001qsy.2 - 9 2190 c.2164A>C c.(2164-2166)AAC>CAC p.N722H CD163L1_uc010sge.1_Missense_Mutation_p.N732H NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 722 SRCR 7.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 TCAGCAATGTTCATTCCCCAG 0.493000 CLEC4C 170482 broad.mit.edu 37 12 7894101 7894101 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:7894101T>G uc001qtg.1 - 3 325 c.151A>C c.(151-153)ACT>CCT p.T51P CLEC4C_uc001qth.1_Missense_Mutation_p.T51P|CLEC4C_uc001qti.1_Missense_Mutation_p.T20P NM_130441 NP_569708 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C isoform 51 Extracellular (Potential). innate immune response integral to membrane sugar binding ovary(2)|skin(1) 3 Kidney(36;0.0915) CTCTTGACAGTTTTGCTATAC 0.403000 PZP 5858 broad.mit.edu 37 12 9318719 9318719 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:9318719A>C uc001qvl.2 - 18 2216 c.2187T>G c.(2185-2187)AGT>AGG p.S729R PZP_uc009zgl.2_Missense_Mutation_p.S598R|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Missense_Mutation_p.S61R NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 CTGGCCCTGAACTTTGTTCAT 0.413000 TAS2R50 259296 broad.mit.edu 37 12 11139032 11139032 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:11139032T>C uc001qzl.2 - 1 480 c.428A>G c.(427-429)CAT>CGT p.H143R PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176890 NP_795371 P59544 T2R50_HUMAN taste receptor, type 2, member 50 143 Helical; Name=4; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(2) 2 CACAAGAAGATGACAAACCAA 0.373000 DUSP16 80824 broad.mit.edu 37 12 12640054 12640054 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:12640054A>C uc001rao.1 - 5 1231 c.599T>G c.(598-600)TTT>TGT p.F200C DUSP16_uc001ran.1_Missense_Mutation_p.F52C NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 200 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) CTCGGGGATAAAGTCAGGCTT 0.433000 GPR19 2842 broad.mit.edu 37 12 12814254 12814254 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:12814254T>G uc001rar.3 - 2 1322 c.1129A>C c.(1129-1131)ATC>CTC p.I377L GPR19_uc001raq.2_Missense_Mutation_p.I377L NM_006143 NP_006134 Q15760 GPR19_HUMAN G protein-coupled receptor 19 377 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) ATGGAAGGGATTTCTGAAATG 0.398000 GPR19 2842 broad.mit.edu 37 12 12814276 12814276 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:12814276T>G uc001rar.3 - 2 1300 c.1107A>C c.(1105-1107)AAA>AAC p.K369N GPR19_uc001raq.2_Missense_Mutation_p.K369N NM_006143 NP_006134 Q15760 GPR19_HUMAN G protein-coupled receptor 19 369 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) CAACGTAGTTTTTTTTGGCCA 0.393000 ATF7IP 55729 broad.mit.edu 37 12 14649259 14649259 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:14649259A>C uc001rbw.2 + 14 3533 c.3375A>C c.(3373-3375)CGA>CGC p.R1125R ATF7IP_uc001rbx.2_Silent_p.R1124R|ATF7IP_uc001rby.3_Silent_p.R1125R|ATF7IP_uc001rca.2_Silent_p.R1125R NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 1125 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 TGCATCACCGACCACCACAAG 0.388000 PLBD1 79887 broad.mit.edu 37 12 14706297 14706297 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:14706297T>G uc001rcc.1 - 2 326 c.165A>C c.(163-165)CAA>CAC p.Q55H NM_024829 NP_079105 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 55 lipid catabolic process extracellular region hydrolase activity 0 CATTTTTGACTTGTACTGTCT 0.433000 STRAP 11171 broad.mit.edu 37 12 16055855 16055855 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:16055855A>C uc001rdc.3 + 10 1350 c.996A>C c.(994-996)GAA>GAC p.E332D STRAP_uc010shw.1_Missense_Mutation_p.E345D|STRAP_uc001rdd.3_Missense_Mutation_p.E238D NM_007178 NP_009109 Q9Y3F4 STRAP_HUMAN serine/threonine kinase receptor associated 332 E -> A (in Ref. 6; AAV38848). mRNA processing|RNA splicing cell junction|mitochondrion|spliceosomal complex identical protein binding skin(1) 1 Hepatocellular(102;0.121) TTATAGAAGAAATTGCTTCAG 0.308000 PLEKHA5 54477 broad.mit.edu 37 12 19501386 19501386 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:19501386A>C uc001reb.2 + 19 2540 c.2454A>C c.(2452-2454)GAA>GAC p.E818D PLEKHA5_uc010sie.1_Missense_Mutation_p.E979D|PLEKHA5_uc001rea.2_Missense_Mutation_p.E876D|PLEKHA5_uc009zin.2_Missense_Mutation_p.E576D|PLEKHA5_uc010sif.1_Missense_Mutation_p.E807D|PLEKHA5_uc010sig.1_Missense_Mutation_p.E800D|PLEKHA5_uc010sih.1_Missense_Mutation_p.E773D|PLEKHA5_uc001rec.1_Missense_Mutation_p.E627D|PLEKHA5_uc009zio.2_Intron NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 818 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) CAGTGGCAGAAGTTGATGAAT 0.353000 RECQL 5965 broad.mit.edu 37 12 21628511 21628511 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:21628511C>T uc001rex.2 - 11 1455 c.1107G>A c.(1105-1107)GTG>GTA p.V369V RECQL_uc001rey.2_Silent_p.V369V NM_032941 NP_116559 P46063 RECQ1_HUMAN RecQ protein-like 369 Helicase C-terminal. DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding ovary(1)|lung(1) 2 CAACAGTTGCCACTACTACCT 0.308000 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function ITPR2 3709 broad.mit.edu 37 12 26640027 26640027 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:26640027A>G uc001rhg.2 - 40 5945 c.5528T>C c.(5527-5529)TTG>TCG p.L1843S ITPR2_uc009zjg.1_5'UTR NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1843 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) AGATGTCATCAATTCATTGTC 0.368000 FGD4 121512 broad.mit.edu 37 12 32778593 32778593 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:32778593T>C uc001rkz.2 + 14 2118 c.1641T>C c.(1639-1641)GCT>GCC p.A547A FGD4_uc001rlc.2_Silent_p.A632A|FGD4_uc001rky.2_Silent_p.A299A|FGD4_uc001rla.2_Silent_p.A203A|FGD4_uc010ske.1_Silent_p.A659A|FGD4_uc001rlb.1_RNA NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 547 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|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) TTTAGACTGCTGAGCTAGGGA 0.338000 FGD4 121512 broad.mit.edu 37 12 32778598 32778598 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:32778598T>C uc001rkz.2 + 14 2123 c.1646T>C c.(1645-1647)CTA>CCA p.L549P FGD4_uc001rlc.2_Missense_Mutation_p.L634P|FGD4_uc001rky.2_Missense_Mutation_p.L301P|FGD4_uc001rla.2_Missense_Mutation_p.L205P|FGD4_uc010ske.1_Missense_Mutation_p.L661P|FGD4_uc001rlb.1_RNA NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 549 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|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) ACTGCTGAGCTAGGGAAAAGA 0.333000 CNTN1 1272 broad.mit.edu 37 12 41327555 41327555 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:41327555A>C uc001rmm.1 + 9 973 c.860A>C c.(859-861)GAG>GCG p.E287A CNTN1_uc009zjy.1_Missense_Mutation_p.E287A|CNTN1_uc001rmn.1_Missense_Mutation_p.E276A|CNTN1_uc001rmo.2_Missense_Mutation_p.E287A NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 287 Ig-like C2-type 3. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AGCACTGCTGAGATTAGCACC 0.408000 CNTN1 1272 broad.mit.edu 37 12 41421690 41421690 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:41421690A>C uc001rmm.1 + 22 2855 c.2742A>C c.(2740-2742)TCA>TCC p.S914S CNTN1_uc001rmn.1_Silent_p.S903S NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 914 Fibronectin type-III 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TCATCAGTTCAGTAAGGTCTG 0.398000 TWF1 5756 broad.mit.edu 37 12 44191514 44191514 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:44191514C>T uc001rob.2 - 7 757 c.729G>A c.(727-729)CAG>CAA p.Q243Q TWF1_uc001rnz.2_Silent_p.Q104Q|TWF1_uc001roa.2_Silent_p.Q236Q|TWF1_uc001roc.2_Silent_p.Q104Q NM_002822 NP_002813 Q12792 TWF1_HUMAN twinfilin 1 202 ADF-H 2. actin cytoskeleton|cytoplasm actin binding|protein tyrosine kinase activity stomach(1) 1 all_cancers(12;0.00125) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.0474) CTCTTACCAACTGCACATAGT 0.333000 HDAC7 51564 broad.mit.edu 37 12 48183070 48183070 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:48183070C>T uc010slo.1 - 19 2404 c.2209G>A c.(2209-2211)GCC>ACC p.A737T HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Missense_Mutation_p.A171T|HDAC7_uc001rqj.3_Missense_Mutation_p.A700T|HDAC7_uc001rqk.3_Missense_Mutation_p.A720T|HDAC7_uc010slp.1_5'Flank NM_015401 NP_056216 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 isoform a 698 Histone deacetylase. negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.137) ATCTTGCTGGCCTTGCTCTGC 0.582000 OR10AD1 121275 broad.mit.edu 37 12 48596600 48596600 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:48596600A>C uc001rrl.1 - 1 476 c.476T>G c.(475-477)TTT>TGT p.F159C NM_001004134 NP_001004134 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, 159 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATACTCGAGAAAGATGCCATT 0.502000 OR10AD1 121275 broad.mit.edu 37 12 48597066 48597066 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:48597066T>C uc001rrl.1 - 1 10 c.10A>G c.(10-12)AAT>GAT p.N4D NM_001004134 NP_001004134 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, 4 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATGCTGCCATTCCTTAGCATC 0.522000 MLL2 8085 broad.mit.edu 37 12 49444192 49444192 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:49444192T>G uc001rta.3 - 11 3179 c.3179A>C c.(3178-3180)AAG>ACG p.K1060T NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1060 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCCCACTACCTTCCCTATGGG 0.577000 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) FMNL3 91010 broad.mit.edu 37 12 50050607 50050607 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:50050607T>G uc001ruv.1 - 8 1024 c.790A>C c.(790-792)AGG>CGG p.R264R FMNL3_uc001ruw.1_Silent_p.R213R|FMNL3_uc001ruu.1_Silent_p.R114R NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN formin-like 3 isoform 1 264 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding breast(2)|pancreas(2) 4 GGAACTCACCTTGGATTCTTG 0.522000 RACGAP1 29127 broad.mit.edu 37 12 50388012 50388012 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:50388012T>C uc001rvt.2 - 14 1551 c.1241A>G c.(1240-1242)GAT>GGT p.D414G RACGAP1_uc009zlm.1_Missense_Mutation_p.D414G|RACGAP1_uc001rvs.2_Missense_Mutation_p.D414G|RACGAP1_uc001rvu.2_Missense_Mutation_p.D414G NM_013277 NP_037409 Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 414 Rho-GAP. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding kidney(1) 1 AGCATGGATATCATCCACTTT 0.453000 KRT6A 3853 broad.mit.edu 37 12 52884661 52884661 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:52884661A>G uc001sam.2 - 4 1102 c.893T>C c.(892-894)CTG>CCG p.L298P NM_005554 NP_005545 P02538 K2C6A_HUMAN keratin 6A 298 Coil 1B.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton ovary(4)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.189) CAAGGCTCTCAGGAAGTTGAT 0.493000 AAAS 8086 broad.mit.edu 37 12 53702131 53702131 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:53702131A>G uc001scr.3 - 13 1347 c.1184T>C c.(1183-1185)CTT>CCT p.L395P AAAS_uc001scs.3_Missense_Mutation_p.L362P NM_015665 NP_056480 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, 395 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore ovary(1) 1 CTCTCCCCCAAGCCTGTGGGT 0.582000 HOXC11 3227 broad.mit.edu 37 12 54369034 54369034 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:54369034T>C uc001sem.2 + 2 868 c.752T>C c.(751-753)TTT>TCT p.F251S NM_014212 NP_055027 O43248 HXC11_HUMAN homeobox C11 251 Homeobox. endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GAGCGAGAGTTTTTCTTCAAC 0.552000 T NUP98 AML NCKAP1L 3071 broad.mit.edu 37 12 54902229 54902229 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:54902229A>C uc001sgc.3 + 5 499 c.420A>C c.(418-420)TCA>TCC p.S140S NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.S90S NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 140 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 CTTACACCTCAGTCATTTTAC 0.443000 PDE1B 5153 broad.mit.edu 37 12 54970356 54970356 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:54970356T>G uc001sgd.1 + 14 1544 c.1378T>G c.(1378-1380)TTT>GTT p.F460V PDE1B_uc010soz.1_Missense_Mutation_p.F323V|PDE1B_uc010spa.1_Missense_Mutation_p.F419V|PDE1B_uc001sgf.2_Missense_Mutation_p.F323V|PDE1B_uc001sge.2_Missense_Mutation_p.F440V|PDE1B_uc009znq.2_Missense_Mutation_p.F256V NM_000924 NP_000915 Q01064 PDE1B_HUMAN phosphodiesterase 1B isoform 1 460 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding upper_aerodigestive_tract(1)|ovary(1) 2 TGCTTCTAGCTTTCAGTGGCG 0.572000 OR9K2 441639 broad.mit.edu 37 12 55524397 55524397 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:55524397T>G uc010spe.1 + 1 845 c.845T>G c.(844-846)TTT>TGT p.F282C NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, 282 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 GCTGTCTTTTTTATGTATCTC 0.443000 OR10A7 121364 broad.mit.edu 37 12 55615481 55615481 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:55615481A>C uc010spf.1 + 1 673 c.673A>C c.(673-675)ATT>CTT p.I225L NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4) 4 TATCATAACAATTCTGAGGAT 0.463000 OR6C68 403284 broad.mit.edu 37 12 55886425 55886425 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:55886425A>C uc010spo.1 + 1 279 c.279A>C c.(277-279)AAA>AAC p.K93N NM_001005519 NP_001005519 A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CTGGGAACAAAATAATAACGT 0.338000 PPM1H 57460 broad.mit.edu 37 12 63113967 63113967 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:63113967A>G uc001srk.3 - 6 1206 c.1057T>C c.(1057-1059)TTT>CTT p.F353L NM_020700 NP_065751 Q9ULR3 PPM1H_HUMAN protein phosphatase 1H (PP2C domain containing) 353 PP2C-like. phosphoprotein phosphatase activity lung(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) GTCATATTAAAGTCCCTGTAG 0.463000 RAB21 23011 broad.mit.edu 37 12 72167766 72167766 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:72167766A>G uc001swt.2 + 4 607 c.355A>G c.(355-357)AAA>GAA p.K119E NM_014999 NP_055814 Q9UL25 RAB21_HUMAN RAB21, member RAS oncogene family 119 protein transport|small GTPase mediated signal transduction cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane GDP binding|GTP binding|GTPase activity|protein binding 0 AGAATTACGGAAAATGTTGGG 0.299000 KCNC2 3747 broad.mit.edu 37 12 75601557 75601557 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:75601557C>T uc001sxg.1 - 2 751 c.207G>A c.(205-207)CCG>CCA p.P69P KCNC2_uc009zry.2_Silent_p.P69P|KCNC2_uc001sxe.2_Silent_p.P69P|KCNC2_uc001sxf.2_Silent_p.P69P|KCNC2_uc010stw.1_Silent_p.P69P NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 69 Gly/Pro-rich (insert).|Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 CGggggacagcgggggcgctc 0.527000 LIN7A 8825 broad.mit.edu 37 12 81283052 81283052 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:81283052T>G uc001szj.1 - 2 372 c.179A>C c.(178-180)GAG>GCG p.E60A LIN7A_uc001szk.1_RNA NM_004664 NP_004655 O14910 LIN7A_HUMAN lin-7 homolog A 60 L27. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding ovary(1)|skin(1) 2 TGTACAAAACTCACTCTGAAG 0.368000 EEA1 8411 broad.mit.edu 37 12 93226309 93226309 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:93226309T>G uc001tck.2 - 11 1498 c.1233A>C c.(1231-1233)CAA>CAC p.Q411H NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 411 Gln/Glu/Lys-rich.|Potential. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 CACTTTGGAGTTGTAACCCAT 0.363000 PLXNC1 10154 broad.mit.edu 37 12 94692436 94692436 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:94692436T>G uc001tdc.2 + 27 4352 c.4103T>G c.(4102-4104)CTT>CGT p.L1368R PLXNC1_uc010sut.1_Missense_Mutation_p.L415R|PLXNC1_uc009zsv.2_Missense_Mutation_p.L107R NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 1368 Cytoplasmic (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 CTTGAAAAACTTTTTAGAAGC 0.348000 APAF1 317 broad.mit.edu 37 12 99042569 99042569 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:99042569T>G uc001tfz.2 + 3 881 c.304T>G c.(304-306)TCA>GCA p.S102A APAF1_uc001tfy.2_Intron|APAF1_uc001tga.2_Intron|APAF1_uc001tgb.2_Missense_Mutation_p.S102A|APAF1_uc001tgc.2_Missense_Mutation_p.S102A NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 102 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) TGGTAAAGATTCAGTTAGTGG 0.363000 ARL1 400 broad.mit.edu 37 12 101790343 101790343 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:101790343T>C uc001tib.2 - 5 498 c.349A>G c.(349-351)AGA>GGA p.R117G ARL1_uc010svn.1_Missense_Mutation_p.R71G|ARL1_uc010svo.1_Intron|ARL1_uc001tic.2_Missense_Mutation_p.R117G NM_001177 NP_001168 P40616 ARL1_HUMAN ADP-ribosylation factor-like 1 117 small GTPase mediated signal transduction Golgi membrane enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding central_nervous_system(1) 1 Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163) GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125) ATGGCTTTTCTCAGCTCTTCT 0.353000 GNPTAB 79158 broad.mit.edu 37 12 102174027 102174027 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:102174027T>C uc001tit.2 - 7 853 c.674A>G c.(673-675)CAA>CGA p.Q225R GNPTAB_uc001tiu.1_Missense_Mutation_p.Q225R|GNPTAB_uc001tiv.3_Missense_Mutation_p.Q88R NM_024312 NP_077288 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase 225 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ovary(1)|skin(1) 2 AGCCAAATCTTGCATTAGCAC 0.368000 C12orf48 55010 broad.mit.edu 37 12 102572378 102572378 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:102572378T>C uc001tjf.2 + 8 1126 c.1014T>C c.(1012-1014)TCT>TCC p.S338S C12orf48_uc001tjg.2_Silent_p.S257S|C12orf48_uc010swa.1_Silent_p.S415S|C12orf48_uc001tjh.2_Silent_p.S257S|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Silent_p.S53S|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron NM_017915 NP_060385 Q9NWS1 PR1BP_HUMAN hypothetical protein LOC55010 338 response to DNA damage stimulus cytoplasm|nucleus DNA binding 0 AGCCAAAATCTCATGCCATAA 0.403000 ASCL1 429 broad.mit.edu 37 12 103352261 103352261 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:103352261A>G uc001tjr.3 + 1 810 c.239A>G c.(238-240)AAG>AGG p.K80R NM_004316 NP_004307 P50553 ASCL1_HUMAN achaete-scute complex homolog 1 80 cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity 0 GGCGGTCACAAGTCAGCGCCC 0.517000 ACACB 32 broad.mit.edu 37 12 109577503 109577503 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:109577503A>G uc001tob.2 + 2 412 c.293A>G c.(292-294)AAG>AGG p.K98R ACACB_uc001toc.2_Missense_Mutation_p.K98R NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 98 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) TCCCACCAGAAGCCCCCAAGA 0.617000 ACACB 32 broad.mit.edu 37 12 109644623 109644623 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:109644623A>T uc001tob.2 + 20 3141 c.3022A>T c.(3022-3024)AGT>TGT p.S1008C ACACB_uc001toc.2_Missense_Mutation_p.S1008C NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1008 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) CAACGTCATGAGTGGCTTTTG 0.547000 UBE3B 89910 broad.mit.edu 37 12 109959331 109959331 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:109959331A>C uc001top.2 + 21 2942 c.2339A>C c.(2338-2340)AAG>ACG p.K780T UBE3B_uc001toq.2_Missense_Mutation_p.K780T|UBE3B_uc001tos.2_Missense_Mutation_p.K207T|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.K780T NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 780 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 TTTGTGGGGAAGATGCTGGGG 0.458000 MVK 4598 broad.mit.edu 37 12 110028611 110028611 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:110028611A>C uc001toy.3 + 8 897 c.713A>C c.(712-714)AAA>ACA p.K238T MVK_uc009zvk.2_Missense_Mutation_p.K238T|MVK_uc010sxr.1_Missense_Mutation_p.K186T|MVK_uc001toz.3_Missense_Mutation_p.K44T|MVK_uc001tpc.3_Intron NM_001114185 NP_001107657 Q03426 KIME_HUMAN mevalonate kinase 238 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|peroxisome ATP binding|identical protein binding|mevalonate kinase activity 0 ACCAACACCAAAGTCCCTCGC 0.587000 C12orf49 79794 broad.mit.edu 37 12 117160952 117160952 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:117160952A>C uc001tvz.1 - 2 326 c.188T>G c.(187-189)TTT>TGT p.F63C C12orf49_uc009zwm.1_Intron NM_024738 NP_079014 Q9H741 CL049_HUMAN hypothetical protein LOC79794 precursor 63 extracellular region ovary(1) 1 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0281) GCCCAAGTTAAACTGCACTTT 0.517000 NOS1 4842 broad.mit.edu 37 12 117696841 117696841 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:117696841T>C uc001twm.1 - 15 3148 c.2462A>G c.(2461-2463)GAG>GGG p.E821G NOS1_uc001twn.1_5'Flank NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 821 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTCCCCATTCTCAGGGGGATC 0.488000 WSB2 55884 broad.mit.edu 37 12 118476183 118476183 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:118476183A>C uc001twr.2 - 5 668 c.570T>G c.(568-570)ATT>ATG p.I190M WSB2_uc010sza.1_Intron|WSB2_uc010szb.1_Translation_Start_Site|WSB2_uc009zws.1_Missense_Mutation_p.I190M NM_018639 NP_061109 Q9NYS7 WSB2_HUMAN WD SOCS-box protein 2 190 WD 2. intracellular signal transduction ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATAACACTTGAATCTGTTTAC 0.537000 CIT 11113 broad.mit.edu 37 12 120214531 120214531 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:120214531A>C uc001txi.1 - 14 1834 c.1781T>G c.(1780-1782)CTT>CGT p.L594R CIT_uc001txh.1_Missense_Mutation_p.L128R|CIT_uc001txj.1_Missense_Mutation_p.L594R NM_007174 NP_009105 O14578 CTRO_HUMAN citron 594 Potential. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TTCAGCAGCAAGCCGAGACTC 0.463000 GCN1L1 10985 broad.mit.edu 37 12 120602204 120602204 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:120602204A>C uc001txo.2 - 18 1797 c.1784T>G c.(1783-1785)CTT>CGT p.L595R NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 595 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAAGCCCCCAAGAGAGGACAG 0.622000 RSRC2 65117 broad.mit.edu 37 12 122990116 122990116 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:122990116A>G uc001ucr.2 - 10 1409 c.1263T>C c.(1261-1263)GGT>GGC p.G421G RSRC2_uc001uco.2_Silent_p.G190G|RSRC2_uc001ucp.2_Silent_p.G362G|RSRC2_uc001ucq.2_Silent_p.G189G|RSRC2_uc001ucs.2_Silent_p.G190G|RSRC2_uc001uct.2_Silent_p.G373G|RSRC2_uc001ucu.2_Silent_p.G422G NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 isoform a 421 ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) TGAAACCCAAACCCATTCCTC 0.398000 DNAH10 196385 broad.mit.edu 37 12 124359938 124359938 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr12:124359938A>G uc001uft.3 + 46 7770 c.7745A>G c.(7744-7746)GAC>GGC p.D2582G NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2582 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AATGAAGTTGACCCAAGATTT 0.453000 CRYL1 51084 broad.mit.edu 37 13 20978777 20978777 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:20978777G>A uc001une.2 - 7 922 c.843C>T c.(841-843)AAC>AAT p.N281N CRYL1_uc001unf.2_Silent_p.N259N|CRYL1_uc001ung.2_Silent_p.N259N NM_015974 NP_057058 Q9Y2S2 CRYL1_HUMAN lambda-crystallin 281 fatty acid metabolic process cytosol 3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity 0 all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244) all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061) TACATACCTGGTTAACCTTCT 0.522000 XPO4 64328 broad.mit.edu 37 13 21383284 21383284 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:21383284T>G uc001unq.3 - 11 1467 c.1431A>C c.(1429-1431)CAA>CAC p.Q477H NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 477 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) CACTGGCCAGTTGATCAGAAA 0.433000 SACS 26278 broad.mit.edu 37 13 23907309 23907309 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:23907309A>C uc001uon.2 - 10 11295 c.10706T>G c.(10705-10707)CTT>CGT p.L3569R SACS_uc001uoo.2_Missense_Mutation_p.L3422R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3569 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GGGTTTTATAAGTTGTTCCAA 0.308000 SACS 26278 broad.mit.edu 37 13 23909096 23909096 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:23909096A>C uc001uon.2 - 10 9508 c.8919T>G c.(8917-8919)GAT>GAG p.D2973E SACS_uc001uoo.2_Missense_Mutation_p.D2826E|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2973 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GACAATATAAATCTGGCTGTA 0.383000 SACS 26278 broad.mit.edu 37 13 23910752 23910752 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:23910752A>C uc001uon.2 - 10 7852 c.7263T>G c.(7261-7263)TTT>TTG p.F2421L SACS_uc001uoo.2_Missense_Mutation_p.F2274L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2421 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GGCAAAGCTGAAAATTCTCTT 0.368000 MTUS2 23281 broad.mit.edu 37 13 29600662 29600662 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:29600662T>C uc001usl.3 + 1 1915 c.1857T>C c.(1855-1857)CCT>CCC p.P619P NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 609 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 AGGACACACCTTCCTCGCAGG 0.517000 FAM48A 55578 broad.mit.edu 37 13 37607715 37607715 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:37607715A>C uc001uwg.2 - 10 826 c.578T>G c.(577-579)CTT>CGT p.L193R FAM48A_uc010abt.2_Missense_Mutation_p.L194R|FAM48A_uc001uwh.2_Missense_Mutation_p.L194R|FAM48A_uc001uwi.2_Missense_Mutation_p.L193R|FAM48A_uc001uwj.2_Missense_Mutation_p.L194R|FAM48A_uc001uwk.2_Missense_Mutation_p.L193R|FAM48A_uc010tes.1_Missense_Mutation_p.L181R|FAM48A_uc001uwl.1_Missense_Mutation_p.L193R NM_001014286 NP_001014308 Q8NEM7 FA48A_HUMAN family with sequence similarity 48, member A 193 autophagy|gastrulation SAGA-type complex protein binding 0 Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959) all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477) CTCAAGCAAAAGTTTGTCTTC 0.383000 FREM2 341640 broad.mit.edu 37 13 39265757 39265757 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:39265757A>C uc001uwv.2 + 1 4585 c.4276A>C c.(4276-4278)AGT>CGT p.S1426R NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1426 Extracellular (Potential).|CSPG 10. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGATGTGATAAGTAAGGGAGT 0.398000 KIAA0564 23078 broad.mit.edu 37 13 42144716 42144716 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:42144716T>G uc001uyj.2 - 44 5567 c.5497A>C c.(5497-5499)AAT>CAT p.N1833H NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 1833 VWFA. extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) CGTGACAGATTTGCATCACTC 0.413000 FNDC3A 22862 broad.mit.edu 37 13 49748662 49748662 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:49748662T>G uc001vcm.2 + 12 1627 c.1322T>G c.(1321-1323)TTC>TGC p.F441C FNDC3A_uc001vcn.2_Missense_Mutation_p.F441C|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.F367C|FNDC3A_uc001vcq.2_Missense_Mutation_p.F385C NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 441 Fibronectin type-III 2. Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) GGCTGTAAATTCAGACTATCG 0.323000 PCDH8 5100 broad.mit.edu 37 13 53421176 53421176 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:53421176T>C uc001vhi.2 - 1 1599 c.1396A>G c.(1396-1398)ACG>GCG p.T466A PCDH8_uc001vhj.2_Missense_Mutation_p.T466A NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 466 Extracellular (Potential).|Cadherin 4. 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) GCCACCAGCGTCAAGTTGTAC 0.711000 DIAPH3 81624 broad.mit.edu 37 13 60544997 60544997 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:60544997T>G uc001vht.2 - 16 2167 c.1948A>C c.(1948-1950)AAT>CAT p.N650H DIAPH3_uc001vhu.2_Missense_Mutation_p.N387H|DIAPH3_uc001vhv.2_Missense_Mutation_p.N228H NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 650 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TTTAACCAATTCAATCTTCTC 0.299000 PCDH9 5101 broad.mit.edu 37 13 67801672 67801672 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:67801672T>C uc001vik.2 - 2 1593 c.901A>G c.(901-903)AGA>GGA p.R301G PCDH9_uc001vil.2_Missense_Mutation_p.R301G|PCDH9_uc010thl.1_Missense_Mutation_p.R301G|PCDH9_uc001vin.3_Missense_Mutation_p.R301G NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 301 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GCAAAGAGTCTTTTGGTTGCA 0.458000 PIBF1 10464 broad.mit.edu 37 13 73372083 73372083 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:73372083A>C uc001vjc.2 + 5 896 c.591A>C c.(589-591)GAA>GAC p.E197D PIBF1_uc001vja.1_Missense_Mutation_p.E197D|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.E197D|PIBF1_uc010aep.2_Intron NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN progesterone-induced blocking factor 1 197 centrosome ovary(1)|breast(1) 2 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) TAAGAAAGGAAATCTGTGAAC 0.299000 PIBF1 10464 broad.mit.edu 37 13 73396078 73396078 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:73396078A>G uc001vjc.2 + 6 1069 c.764A>G c.(763-765)CAG>CGG p.Q255R PIBF1_uc001vja.1_Missense_Mutation_p.Q255R|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.Q255R|PIBF1_uc010aep.2_Intron NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN progesterone-induced blocking factor 1 255 centrosome ovary(1)|breast(1) 2 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) CAGTTAATTCAGCAAGGTGAC 0.303000 MYCBP2 23077 broad.mit.edu 37 13 77635873 77635873 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:77635873T>G uc001vkf.2 - 76 12804 c.12713A>C c.(12712-12714)AAT>ACT p.N4238T MYCBP2_uc010aev.2_Missense_Mutation_p.N3642T|MYCBP2_uc001vke.2_Missense_Mutation_p.N855T NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 4238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TCCACAGACATTGCATAAAAT 0.378000 MYCBP2 23077 broad.mit.edu 37 13 77759309 77759309 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:77759309A>G uc001vkf.2 - 33 4625 c.4534T>C c.(4534-4536)TTT>CTT p.F1512L MYCBP2_uc010aev.2_Missense_Mutation_p.F916L NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1512 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AAAGAATGAAAGCAGGCAGTG 0.398000 DOCK9 23348 broad.mit.edu 37 13 99452705 99452705 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:99452705T>G uc001vnt.2 - 52 5853 c.5798A>C c.(5797-5799)AAG>ACG p.K1933T DOCK9_uc001vnw.2_Missense_Mutation_p.K1932T|DOCK9_uc001vnq.2_Missense_Mutation_p.K480T|DOCK9_uc001vnr.2_Missense_Mutation_p.K562T|DOCK9_uc010tin.1_Missense_Mutation_p.K551T|DOCK9_uc001vns.2_Missense_Mutation_p.K468T|DOCK9_uc010tio.1_Missense_Mutation_p.K588T|DOCK9_uc010tip.1_Missense_Mutation_p.K629T NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1933 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AGGGATGCGCTTCTTCACATA 0.517000 MYO16 23026 broad.mit.edu 37 13 109704747 109704747 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:109704747A>C uc001vqt.1 + 25 3032 c.2906A>C c.(2905-2907)AAG>ACG p.K969T MYO16_uc010agk.1_Missense_Mutation_p.K991T|MYO16_uc001vqu.1_Missense_Mutation_p.K769T|MYO16_uc010tjh.1_Missense_Mutation_p.K481T NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 969 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CGAGGACATAAGTCTGCCCTG 0.368000 MYO16 23026 broad.mit.edu 37 13 109704765 109704765 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:109704765A>C uc001vqt.1 + 25 3050 c.2924A>C c.(2923-2925)AAG>ACG p.K975T MYO16_uc010agk.1_Missense_Mutation_p.K997T|MYO16_uc001vqu.1_Missense_Mutation_p.K775T|MYO16_uc010tjh.1_Missense_Mutation_p.K487T NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 975 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CTGCTCAGTAAGAAAATGACA 0.343000 ATP11A 23250 broad.mit.edu 37 13 113487306 113487306 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr13:113487306G>A uc001vsi.3 + 14 1616 c.1528G>A c.(1528-1530)GAC>AAC p.D510N ATP11A_uc001vsj.3_Missense_Mutation_p.D510N|ATP11A_uc001vsm.1_Missense_Mutation_p.D386N NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 510 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 large_intestine(2)|ovary(2) 4 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_lung(25;0.134)|all_epithelial(44;0.141) ATCCTCGCCCGACGAGGTGGC 0.632000 OR4K5 79317 broad.mit.edu 37 14 20389223 20389223 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:20389223T>C uc010tkw.1 + 1 458 c.458T>C c.(457-459)TTG>TCG p.L153S NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTGTGAGCTTGGTGCACACA 0.433000 RNASE10 338879 broad.mit.edu 37 14 20979222 20979222 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:20979222A>C uc010tlj.1 + 1 592 c.592A>C c.(592-594)AAA>CAA p.K198Q RNASE10_uc001vxp.2_Missense_Mutation_p.K226Q NM_001012975 NP_001012993 Q5GAN6 RNS10_HUMAN ribonuclease, RNase A family, 10 (non-active) 198 extracellular region nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00123) Epithelial(56;1.81e-07)|all cancers(55;1.86e-06) GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191) TTCTGTTATAAAAAAGCACAT 0.338000 MYH6 4624 broad.mit.edu 37 14 23853762 23853762 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:23853762T>G uc001wjv.2 - 36 5521 c.5454A>C c.(5452-5454)GAA>GAC p.E1818D NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1818 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GCACCCGCGCTTCCAGCTTCT 0.632000 RNF31 55072 broad.mit.edu 37 14 24627108 24627108 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:24627108A>T uc001wmn.1 + 17 2978 c.2729A>T c.(2728-2730)AAA>ATA p.K910I RNF31_uc001wml.1_Missense_Mutation_p.K759I|RNF31_uc010alg.1_Missense_Mutation_p.K669I|RNF31_uc001wmo.1_Missense_Mutation_p.K377I|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_Missense_Mutation_p.K94I NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 910 IBR-type 2. 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) TTCTGCCAGAAATGTCCAGAG 0.597000 TSSK4 283629 broad.mit.edu 37 14 24675723 24675723 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:24675723A>C uc001wng.2 + 2 402 c.234A>C c.(232-234)AAA>AAC p.K78N TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.2_Missense_Mutation_p.K2N|TSSK4_uc001wnf.2_5'UTR|TSSK4_uc001wnh.2_Missense_Mutation_p.K78N NM_174944 NP_777604 Q6SA08 TSSK4_HUMAN testis-specific serine kinase 4 78 Protein kinase. cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity 0 GBM - Glioblastoma multiforme(265;0.018) AGGTAATGAAAGTCTTGCGGC 0.522000 HECTD1 25831 broad.mit.edu 37 14 31575893 31575893 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:31575893A>G uc001wrc.1 - 38 7674 c.7185T>C c.(7183-7185)AAT>AAC p.N2395N HECTD1_uc001wra.1_Silent_p.N521N|HECTD1_uc001wrb.1_Silent_p.N521N NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 2395 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AACCTGATGGATTCTTCAGCA 0.363000 HEATR5A 25938 broad.mit.edu 37 14 31771644 31771644 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:31771644T>A uc001wrf.3 - 27 4519 c.4442A>T c.(4441-4443)CAG>CTG p.Q1481L HEATR5A_uc010ami.2_Intron NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1768 binding ovary(1) 1 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) CGAAGATAACTGGCCCCCAGG 0.468000 ARHGAP5 394 broad.mit.edu 37 14 32560921 32560921 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:32560921T>C uc001wrl.2 + 2 1285 c.1046T>C c.(1045-1047)CTT>CCT p.L349P ARHGAP5_uc001wrm.2_Missense_Mutation_p.L349P|ARHGAP5_uc001wrn.2_Missense_Mutation_p.L349P|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 349 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TTTAACACTCTTTTGCCAAAT 0.313000 NPAS3 64067 broad.mit.edu 37 14 34269204 34269204 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:34269204A>G uc001wru.2 + 12 1755 c.1691A>G c.(1690-1692)GAG>GGG p.E564G NPAS3_uc001wrs.2_Missense_Mutation_p.E551G|NPAS3_uc001wrt.2_Missense_Mutation_p.E532G|NPAS3_uc001wrv.2_Missense_Mutation_p.E534G NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 564 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) GTGGAGAGCGAGTCGGACCTG 0.667000 MDGA2 161357 broad.mit.edu 37 14 47426820 47426820 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:47426820A>C uc001wwj.3 - 9 1835 c.1639T>G c.(1639-1641)TTG>GTG p.L547V MDGA2_uc001wwi.3_Missense_Mutation_p.L318V|MDGA2_uc010ani.2_Missense_Mutation_p.L107V NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 547 Ig-like 6. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CGGATTTCCAAGAATGCTGGT 0.448000 ATP5S 27109 broad.mit.edu 37 14 50790684 50790684 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:50790684A>C uc001wxw.1 + 4 1075 c.383A>C c.(382-384)AAA>ACA p.K128T ATP5S_uc001wxx.1_Intron|ATP5S_uc010ant.1_Missense_Mutation_p.K100T NM_001003803 NP_001003803 Q99766 ATP5S_HUMAN ATP synthase, H+ transporting, mitochondrial F0 128 ATP biosynthetic process mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity ovary(1)|skin(1) 2 all_epithelial(31;0.000636)|Breast(41;0.0102) OV - Ovarian serous cystadenocarcinoma(311;0.0685) CATGTTGAAAAAATAAGGCTG 0.289000 TXNDC16 57544 broad.mit.edu 37 14 52981657 52981657 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:52981657C>T uc001wzs.2 - 8 995 c.546G>A c.(544-546)GTG>GTA p.V182V TXNDC16_uc010tqu.1_Silent_p.V177V|TXNDC16_uc010aoe.2_RNA NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 isoform 1 182 cell redox homeostasis extracellular region 0 Breast(41;0.0716) TAGTCCCATACACAAAAGCGG 0.358000 JKAMP 51528 broad.mit.edu 37 14 59965516 59965516 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:59965516A>C uc001xei.3 + 5 1074 c.572A>C c.(571-573)AAG>ACG p.K191T JKAMP_uc001xef.3_Missense_Mutation_p.K177T|JKAMP_uc001xeh.3_Missense_Mutation_p.K171T|JKAMP_uc001xeg.3_Missense_Mutation_p.K185T|JKAMP_uc010try.1_Missense_Mutation_p.K114T|JKAMP_uc001xej.3_Missense_Mutation_p.K114T NM_001098625 NP_001092095 Q9P055 JKAMP_HUMAN JNK1-associated membrane protein isoform 2 192 Cytoplasmic (Potential). ER-associated protein catabolic process|response to unfolded protein endoplasmic reticulum membrane|integral to membrane ubiquitin protein ligase binding breast(1) 1 CTTCTGGTGAAGAAGATTGCA 0.358000 ESR2 2100 broad.mit.edu 37 14 64716368 64716368 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:64716368A>G uc001xha.1 - 7 1589 c.1121T>C c.(1120-1122)CTG>CCG p.L374P ESR2_uc001xgu.2_Missense_Mutation_p.L374P|ESR2_uc001xgv.2_Missense_Mutation_p.L374P|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.L374P|ESR2_uc001xgy.1_Missense_Mutation_p.L374P|ESR2_uc001xgz.1_Missense_Mutation_p.L374P|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Intron|ESR2_uc010aqd.1_Intron NM_001437 NP_001428 Q92731 ESR2_HUMAN estrogen receptor beta isoform 1 374 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) AAAGATTTCCAGAATTCCTTC 0.388000 SPTB 6710 broad.mit.edu 37 14 65252275 65252275 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:65252275A>C uc001xht.2 - 17 3889 c.3835T>G c.(3835-3837)TTC>GTC p.F1279V SPTB_uc001xhr.2_Missense_Mutation_p.F1279V|SPTB_uc001xhs.2_Missense_Mutation_p.F1279V|SPTB_uc001xhu.2_Missense_Mutation_p.F1279V NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1279 Spectrin 10. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TTCTGGAGGAAGTTCTGTAGC 0.537000 SLC8A3 6547 broad.mit.edu 37 14 70515511 70515511 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:70515511A>C uc001xly.2 - 7 3134 c.2380T>G c.(2380-2382)TTC>GTC p.F794V SLC8A3_uc001xlu.2_Missense_Mutation_p.F151V|SLC8A3_uc001xlv.2_Missense_Mutation_p.F165V|SLC8A3_uc001xlw.2_Missense_Mutation_p.F791V|SLC8A3_uc001xlx.2_Missense_Mutation_p.F792V|SLC8A3_uc001xlz.2_Missense_Mutation_p.F788V|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.F151V NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 794 Helical; (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AATGCCACGAAAACAACAGCT 0.512000 SIPA1L1 26037 broad.mit.edu 37 14 72117215 72117215 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:72117215T>G uc001xms.2 + 5 2330 c.1982T>G c.(1981-1983)CTT>CGT p.L661R SIPA1L1_uc001xmt.2_Missense_Mutation_p.L661R|SIPA1L1_uc001xmu.2_Missense_Mutation_p.L661R|SIPA1L1_uc001xmv.2_Missense_Mutation_p.L661R|SIPA1L1_uc010ttm.1_Missense_Mutation_p.L136R NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 661 Rap-GAP. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CGAGCACAGCTTGATACCAAA 0.428000 SIPA1L1 26037 broad.mit.edu 37 14 72139141 72139141 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:72139141A>C uc001xms.2 + 9 3254 c.2906A>C c.(2905-2907)AAC>ACC p.N969T SIPA1L1_uc001xmt.2_Missense_Mutation_p.N969T|SIPA1L1_uc001xmu.2_Missense_Mutation_p.N969T|SIPA1L1_uc001xmv.2_Missense_Mutation_p.N969T|SIPA1L1_uc010ttm.1_Missense_Mutation_p.N444T NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 969 PDZ. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TTCCATGTCAACTATGAGGGC 0.527000 YLPM1 56252 broad.mit.edu 37 14 75283360 75283360 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:75283360A>G uc001xqj.3 + 13 5776 c.5652A>G c.(5650-5652)AAA>AAG p.K1884K YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Silent_p.K367K NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 1689 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) AAGAAGAAAAAGATCCAGATT 0.363000 C14orf156 81892 broad.mit.edu 37 14 78183895 78183895 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:78183895A>G uc001xue.3 + 4 351 c.321A>G c.(319-321)AAA>AAG p.K107K NM_031210 NP_112487 Q9GZT3 SLIRP_HUMAN SRA stem-loop-interacting RNA-binding protein 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus nucleotide binding|RNA binding 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0276) ATGAAAAGAAAGATTTTTGAG 0.353000 ATG2B 55102 broad.mit.edu 37 14 96783531 96783531 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:96783531A>C uc001yfi.2 - 20 3526 c.3161T>G c.(3160-3162)GTT>GGT p.V1054G NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1054 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) ATTCAGAAGAACTGAGAGAAA 0.343000 AHNAK2 113146 broad.mit.edu 37 14 105415198 105415198 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr14:105415198T>A uc010axc.1 - 7 6710 c.6590A>T c.(6589-6591)AAG>ATG p.K2197M AHNAK2_uc001ypx.2_Missense_Mutation_p.K2097M NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2197 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) GTCAGTGGTCTTGAGGTCCCC 0.642000 HERC2 8924 broad.mit.edu 37 15 28478297 28478297 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:28478297T>C uc001zbj.2 - 30 4776 c.4670A>G c.(4669-4671)AAG>AGG p.K1557R NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1557 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTTACCTCTCTTTTTCCTTCG 0.378000 TRPM1 4308 broad.mit.edu 37 15 31330353 31330353 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:31330353A>C uc001zfm.2 - 18 2395 c.2267T>G c.(2266-2268)CTT>CGT p.L756R TRPM1_uc010azy.2_Missense_Mutation_p.L663R|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 756 Helical; (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GGGGGGTAGAAGAATCCCCAT 0.348000 BUB1B 701 broad.mit.edu 37 15 40498573 40498573 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:40498573A>C uc001zkx.3 + 15 2135 c.1923A>C c.(1921-1923)GAA>GAC p.E641D BUB1B_uc010ucl.1_Missense_Mutation_p.E509D NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 641 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) TGTTACCGGAAGAAGATCTAG 0.463000 Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome RPUSD2 27079 broad.mit.edu 37 15 40866189 40866189 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:40866189A>G uc001zmd.1 + 3 1367 c.1367A>G c.(1366-1368)GAG>GGG p.E456G NM_152260 NP_689473 Q8IZ73 RUSD2_HUMAN RNA pseudouridylate synthase domain containing 456 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding skin(1) 1 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) GACCTGGAAGAGTTGGCTGCA 0.567000 DNAJC17 55192 broad.mit.edu 37 15 41066632 41066632 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:41066632A>G uc001zms.1 - 9 614 c.603T>C c.(601-603)TAT>TAC p.Y201Y DNAJC17_uc010bbz.1_RNA|DNAJC17_uc010bca.1_RNA|DNAJC17_uc010bcb.1_RNA NM_018163 NP_060633 Q9NVM6 DJC17_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 17 201 RRM. protein folding heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding 0 all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GAACCTCACCATACTGTGGGG 0.572000 MGA 23269 broad.mit.edu 37 15 42053967 42053967 + Nonsense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:42053967C>T uc010ucy.1 + 21 7610 c.7429C>T c.(7429-7431)CAG>TAG p.Q2477* MGA_uc010ucz.1_Nonsense_Mutation_p.Q2268*|MGA_uc010uda.1_Nonsense_Mutation_p.Q1093* NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2438 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) ACTAACAGATCAGGCAGACAA 0.363000 PLA2G4E 123745 broad.mit.edu 37 15 42281732 42281732 + Missense_Mutation SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:42281732G>T uc001zow.1 - 14 1517 c.1517C>A c.(1516-1518)CCC>CAC p.P506H PLA2G4E_uc010udc.1_5'UTR|PLA2G4E_uc001zov.1_Missense_Mutation_p.P159H NM_001080490 NP_001073959 Q3MJ16 PA24E_HUMAN phospholipase A2, group 4E 523 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity 0 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) CACCTCGTAGGGGGAGAACTC 0.652000 OREG0023079 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TP53BP1 7158 broad.mit.edu 37 15 43748755 43748755 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:43748755A>T uc001zrs.2 - 12 2184 c.2036T>A c.(2035-2037)CTC>CAC p.L679H TP53BP1_uc010udp.1_Missense_Mutation_p.L679H|TP53BP1_uc001zrq.3_Missense_Mutation_p.L684H|TP53BP1_uc001zrr.3_Missense_Mutation_p.L684H|TP53BP1_uc010udq.1_Missense_Mutation_p.L684H NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 679 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TTCTTCTTTGAGTTCCTCTCC 0.443000 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes DUOX1 53905 broad.mit.edu 37 15 45448048 45448048 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:45448048T>G uc001zus.1 + 29 3969 c.3623T>G c.(3622-3624)TTT>TGT p.F1208C DUOX1_uc001zut.1_Missense_Mutation_p.F1208C|DUOX1_uc010bee.1_Missense_Mutation_p.F588C NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 1208 Helical; (Potential).|Interaction with TXNDC11 (By similarity).|Ferric oxidoreductase. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) ATGTATGTCTTTGCCTCCCAC 0.562000 SQRDL 58472 broad.mit.edu 37 15 45954208 45954208 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:45954208C>T uc001zvt.2 + 4 479 c.290C>T c.(289-291)TCC>TTC p.S97F SQRDL_uc001zvu.2_Missense_Mutation_p.S97F|SQRDL_uc001zvv.2_Missense_Mutation_p.S97F NM_021199 NP_067022 Q9Y6N5 SQRD_HUMAN sulfide dehydrogenase like precursor 97 oxidoreductase activity ovary(1) 1 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) AAACAATTGTCCTCATCTGGT 0.443000 SEMA6D 80031 broad.mit.edu 37 15 48056380 48056380 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:48056380T>G uc010bek.2 + 11 1335 c.975T>G c.(973-975)GGT>GGG p.G325G SEMA6D_uc001zvw.2_Silent_p.G325G|SEMA6D_uc001zvx.1_Silent_p.G325G|SEMA6D_uc001zvy.2_Silent_p.G325G|SEMA6D_uc001zvz.2_Silent_p.G325G|SEMA6D_uc001zwa.2_Silent_p.G325G|SEMA6D_uc001zwb.2_Silent_p.G325G|SEMA6D_uc001zwc.2_Silent_p.G325G NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 325 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GCATCCCTGGTTCTGCTGTCT 0.458000 SLC27A2 11001 broad.mit.edu 37 15 50519317 50519317 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:50519317T>A uc001zxw.2 + 7 1631 c.1399T>A c.(1399-1401)TTA>ATA p.L467I SLC27A2_uc010bes.2_Missense_Mutation_p.L414I|SLC27A2_uc001zxx.2_Missense_Mutation_p.L232I NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 467 Cytoplasmic (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) TGGAGATCTCTTAATGGTTGA 0.393000 HDC 3067 broad.mit.edu 37 15 50546770 50546770 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:50546770T>C uc001zxz.2 - 5 639 c.533A>G c.(532-534)GAG>GGG p.E178G HDC_uc001zxy.2_5'Flank|HDC_uc010uff.1_Missense_Mutation_p.E178G|HDC_uc010bet.1_Missense_Mutation_p.E99G|HDC_uc010beu.1_Missense_Mutation_p.E178G NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 178 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) TAGGCAGGACTCATCAGCATC 0.557000 CYP19A1 1588 broad.mit.edu 37 15 51507411 51507411 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:51507411T>C uc001zyz.3 - 9 1128 c.877A>G c.(877-879)AGA>GGA p.R293G CYP19A1_uc001zza.3_Missense_Mutation_p.R293G|CYP19A1_uc001zzb.2_Missense_Mutation_p.R293G NM_031226 NP_112503 P11511 CP19A_HUMAN cytochrome P450, family 19 293 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(3) 3 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) ACATTCTCTCTTGTCAGGTCA 0.418000 DMXL2 23312 broad.mit.edu 37 15 51772992 51772992 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:51772992T>C uc002abf.2 - 24 6536 c.6311A>G c.(6310-6312)AAA>AGA p.K2104R DMXL2_uc002abd.2_Missense_Mutation_p.K174R|DMXL2_uc010ufy.1_Missense_Mutation_p.K2104R|DMXL2_uc010bfa.2_Missense_Mutation_p.K1468R NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2104 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) ACTCTCTACTTTGGAATATGT 0.373000 DMXL2 23312 broad.mit.edu 37 15 51783905 51783905 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:51783905T>G uc002abf.2 - 20 5048 c.4823A>C c.(4822-4824)GAG>GCG p.E1608A DMXL2_uc010ufy.1_Missense_Mutation_p.E1608A|DMXL2_uc010bfa.2_Missense_Mutation_p.E972A NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1608 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) TTCTTCAGCCTCAGAATGAAA 0.393000 MYO5A 4644 broad.mit.edu 37 15 52725446 52725446 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:52725446A>G uc002aby.2 - 2 308 c.64T>C c.(64-66)TGG>CGG p.W22R MYO5A_uc002abx.3_Missense_Mutation_p.W22R|MYO5A_uc010uge.1_5'UTR NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 22 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GCTGACTTCCAGACTTCCTCT 0.378000 UNC13C 440279 broad.mit.edu 37 15 54305506 54305506 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:54305506A>C uc002ack.2 + 1 406 c.406A>C c.(406-408)AGT>CGT p.S136R NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 136 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGAACTAAGGAGTAGCACAGA 0.443000 PIGB 9488 broad.mit.edu 37 15 55612587 55612587 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:55612587T>G uc002act.2 + 2 594 c.278T>G c.(277-279)GTT>GGT p.V93G uc002acs.2_5'Flank|PIGB_uc010ugg.1_Intron NM_004855 NP_004846 Q92521 PIGB_HUMAN phosphatidylinositol glycan, class B 93 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity 0 all cancers(107;0.0255) TCTCTTGAAGTTTCACATCAC 0.328000 ZNF280D 54816 broad.mit.edu 37 15 56981564 56981564 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:56981564A>C uc002adu.2 - 8 821 c.604T>G c.(604-606)TCC>GCC p.S202A ZNF280D_uc002adv.2_Missense_Mutation_p.S189A|ZNF280D_uc010bfq.2_Missense_Mutation_p.S202A|ZNF280D_uc002adw.1_Missense_Mutation_p.S230A|ZNF280D_uc010bfr.1_RNA NM_017661 NP_060131 Q6N043 Z280D_HUMAN suppressor of hairy wing homolog 4 isoform 1 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) ACAGCTGAGGAATTTGCTCCA 0.358000 RNF111 54778 broad.mit.edu 37 15 59373169 59373169 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:59373169T>C uc002afv.2 + 8 2262 c.1983T>C c.(1981-1983)GCT>GCC p.A661A RNF111_uc002afs.2_Silent_p.A661A|RNF111_uc002aft.2_Silent_p.A661A|RNF111_uc002afu.2_Silent_p.A660A|RNF111_uc002afw.2_Silent_p.A661A|RNF111_uc002afx.2_Silent_p.A187A NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 661 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) ATCATCAAGCTTCTGCCTGCC 0.438000 MYO1E 4643 broad.mit.edu 37 15 59500962 59500962 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:59500962T>C uc002aga.2 - 14 1820 c.1448A>G c.(1447-1449)CAG>CGG p.Q483R NM_004998 NP_004989 Q12965 MYO1E_HUMAN myosin IE 483 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity central_nervous_system(3) 3 all cancers(107;0.207) CTGAAGTTTCTGGAGCAGCGT 0.517000 MYO1E 4643 broad.mit.edu 37 15 59553637 59553637 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:59553637A>C uc002aga.2 - 3 591 c.219T>G c.(217-219)ATT>ATG p.I73M NM_004998 NP_004989 Q12965 MYO1E_HUMAN myosin IE 73 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity central_nervous_system(3) 3 all cancers(107;0.207) GGTACATTTCAATTTCCTTTT 0.363000 USP3 9960 broad.mit.edu 37 15 63882994 63882994 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:63882994A>G uc002amf.2 + 15 1661 c.1532A>G c.(1531-1533)CAC>CGC p.H511R USP3_uc002amg.2_Missense_Mutation_p.H426R|USP3_uc002amh.2_Missense_Mutation_p.H489R|USP3_uc010uij.1_Missense_Mutation_p.H467R|USP3_uc010uik.1_Missense_Mutation_p.H262R|USP3_uc010bgs.2_Missense_Mutation_p.H494R|USP3_uc002ami.2_Missense_Mutation_p.H342R|uc002amj.2_Intron|uc002amk.2_Intron|uc002aml.2_Intron NM_006537 NP_006528 Q9Y6I4 UBP3_HUMAN ubiquitin thiolesterase 3 511 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(80;0.0187) TACGTGGAACACCAGGCCAAA 0.458000 LARP6 55323 broad.mit.edu 37 15 71124941 71124941 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:71124941T>C uc002ass.2 - 3 997 c.926A>G c.(925-927)GAG>GGG p.E309G NM_018357 NP_060827 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 309 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 CGCAGTGGGCTCCTCGTCATG 0.493000 SEMA7A 8482 broad.mit.edu 37 15 74704005 74704005 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:74704005A>G uc002axv.2 - 12 1509 c.1469T>C c.(1468-1470)CTG>CCG p.L490P SEMA7A_uc010ulk.1_Missense_Mutation_p.L325P|SEMA7A_uc010ull.1_Missense_Mutation_p.L476P NM_003612 NP_003603 O75326 SEM7A_HUMAN semaphorin 7A isoform 1 preproprotein 490 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(1)|central_nervous_system(1) 2 ACACAGGTCCAGGGGCACCTG 0.647000 PTPN9 5780 broad.mit.edu 37 15 75798030 75798030 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:75798030A>T uc002bal.2 - 7 1462 c.954T>A c.(952-954)ACT>ACA p.T318T NM_002833 NP_002824 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 318 Tyrosine-protein phosphatase. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding lung(1)|skin(1) 2 AACAGTGGAAAGTGCCAACAG 0.483000 C15orf27 123591 broad.mit.edu 37 15 76449088 76449088 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:76449088A>C uc002bbq.2 + 4 526 c.371A>C c.(370-372)AAG>ACG p.K124T C15orf27_uc010bkp.2_Intron|C15orf27_uc002bbr.2_Intron NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 124 integral to membrane 0 ATAGATATAAAGCTTCTCCAG 0.428000 SCAPER 49855 broad.mit.edu 37 15 76673782 76673782 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:76673782T>C uc002bby.2 - 27 3701 c.3642A>G c.(3640-3642)CAA>CAG p.Q1214Q SCAPER_uc010bkr.2_Silent_p.Q522Q|SCAPER_uc002bbx.2_Silent_p.Q968Q|SCAPER_uc002bbz.1_Silent_p.Q1085Q NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 1213 endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 GAATGGCCACTTGGATGGTAT 0.448000 ACSBG1 23205 broad.mit.edu 37 15 78486286 78486286 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:78486286G>A uc002bdh.2 - 4 586 c.530C>T c.(529-531)ACA>ATA p.T177I ACSBG1_uc010umw.1_Missense_Mutation_p.T173I|ACSBG1_uc010umx.1_Intron|ACSBG1_uc010umy.1_Missense_Mutation_p.T70I NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 177 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 TGCAAATACTGTGCCCACTGC 0.637000 RASGRF1 5923 broad.mit.edu 37 15 79350698 79350698 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:79350698T>G uc002beq.2 - 3 884 c.509A>C c.(508-510)GAG>GCG p.E170A RASGRF1_uc002bep.2_Missense_Mutation_p.E170A|RASGRF1_uc010blm.1_Missense_Mutation_p.E92A|RASGRF1_uc002ber.3_Missense_Mutation_p.E170A NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 170 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 CCGCTCGATCTCGATCTCCCC 0.612000 IL16 3603 broad.mit.edu 37 15 81592241 81592241 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:81592241A>C uc002bgh.3 + 14 2950 c.2574A>C c.(2572-2574)GGA>GGC p.G858G IL16_uc010blq.1_Silent_p.G812G|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.G900G|IL16_uc002bgg.2_Silent_p.G858G|IL16_uc002bgi.1_Silent_p.G248G|IL16_uc002bgj.2_Silent_p.G352G|IL16_uc002bgk.2_Silent_p.G157G|IL16_uc002bgl.1_Silent_p.G157G|IL16_uc010unq.1_Silent_p.G157G NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 858 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 CTGACAAAGGAGCCCAGAGAC 0.512000 FSD2 123722 broad.mit.edu 37 15 83447586 83447586 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:83447586T>G uc002bjd.2 - 6 1210 c.1043A>C c.(1042-1044)GAG>GCG p.E348A FSD2_uc010uol.1_Missense_Mutation_p.E348A|FSD2_uc010uom.1_Missense_Mutation_p.E348A NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 348 central_nervous_system(1) 1 GTCTTCAAACTCAGGCTGTGC 0.483000 ZNF592 9640 broad.mit.edu 37 15 85326908 85326908 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:85326908C>T uc002bld.2 + 4 1338 c.1002C>T c.(1000-1002)AGC>AGT p.S334S ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 334 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) GTCCCCGGAGCCCTCTGGAGG 0.557000 ALPK3 57538 broad.mit.edu 37 15 85383097 85383097 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:85383097T>G uc002ble.2 + 5 1360 c.1193T>G c.(1192-1194)ATC>AGC p.I398S NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 398 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTGCGCGAGATCGAGCAGAGC 0.637000 ALPK3 57538 broad.mit.edu 37 15 85411511 85411511 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:85411511A>G uc002ble.2 + 14 5715 c.5548A>G c.(5548-5550)AAA>GAA p.K1850E ALPK3_uc010upc.1_Missense_Mutation_p.K151E NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1850 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGCTGGCAGGAAAGGCTCCCA 0.632000 PDE8A 5151 broad.mit.edu 37 15 85656658 85656658 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:85656658A>T uc002blh.2 + 13 1354 c.1165A>T c.(1165-1167)ATT>TTT p.I389F PDE8A_uc002bli.2_Missense_Mutation_p.I343F|PDE8A_uc010bnc.2_Missense_Mutation_p.I142F|PDE8A_uc010bnd.2_Missense_Mutation_p.I142F|PDE8A_uc002blj.2_Missense_Mutation_p.I9F|PDE8A_uc002blk.2_Missense_Mutation_p.I9F NM_002605 NP_002596 O60658 PDE8A_HUMAN phosphodiesterase 8A isoform 1 389 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) TTCCATGACAATTGAGGCGCC 0.502000 DET1 55070 broad.mit.edu 37 15 89074106 89074106 + Silent SNP C C G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:89074106C>G uc002bmr.2 - 2 983 c.831G>C c.(829-831)CGG>CGC p.R277R DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Silent_p.R288R NM_001144074 NP_001137546 Q7L5Y6 DET1_HUMAN de-etiolated 1 isoform 2 277 nucleus lung(1)|pancreas(1) 2 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) TCTGACTGTCCCGCTGTACCT 0.522000 IQGAP1 8826 broad.mit.edu 37 15 91009655 91009655 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:91009655A>C uc002bpl.1 + 17 2123 c.2022A>C c.(2020-2022)AAA>AAC p.K674N NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 674 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CCAAGAAGAAAAAACTGGCAG 0.463000 BLM 641 broad.mit.edu 37 15 91358410 91358410 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:91358410T>C uc002bpr.2 + 22 4252 c.4155T>C c.(4153-4155)ACT>ACC p.T1385T BLM_uc010uqh.1_Silent_p.T1385T|BLM_uc010uqi.1_Silent_p.T1010T|BLM_uc010bnx.2_Silent_p.T1254T|BLM_uc002bpt.2_Silent_p.T360T NM_000057 NP_000048 P54132 BLM_HUMAN Bloom syndrome protein 1385 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding ovary(3)|skin(2)|breast(1) 6 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) CCTCACATACTTCTCAAGCGA 0.423000 Mis|N|F leukemia|lymphoma|skin squamous cell |other cancers Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Bloom_syndrome C15orf32 145858 broad.mit.edu 37 15 93015408 93015408 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:93015408A>G uc002brc.1 + 1 502 c.30A>G c.(28-30)TCA>TCG p.S10S C15orf32_uc010bod.1_RNA NM_153040 NP_694585 Q32M92 CO032_HUMAN hypothetical protein LOC145858 10 ovary(1) 1 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) TGGATGCTTCAAAGGAAGACT 0.338000 SPATA8 145946 broad.mit.edu 37 15 97326897 97326897 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:97326897T>C uc002bue.2 + 1 222 c.12T>C c.(10-12)GCT>GCC p.A4A uc010uro.1_5'Flank|uc010urp.1_5'Flank|uc002bud.1_5'Flank NM_173499 NP_775770 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 4 ovary(1)|skin(1) 2 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) TGGCCCCGGCTGGGATGTCAG 0.577000 IGF1R 3480 broad.mit.edu 37 15 99192862 99192862 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:99192862T>A uc002bul.2 + 1 102 c.52T>A c.(52-54)TTT>ATT p.F18I IGF1R_uc010urq.1_Missense_Mutation_p.F18I|IGF1R_uc010bon.2_Missense_Mutation_p.F18I NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 18 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) GGGGCTCCTGTTTCTCTCCGC 0.572000 TTC23 64927 broad.mit.edu 37 15 99696485 99696485 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:99696485C>T uc002bur.2 - 11 1542 c.1011G>A c.(1009-1011)CTG>CTA p.L337L TTC23_uc002bus.2_Silent_p.L337L|TTC23_uc002but.2_Silent_p.L337L|TTC23_uc002buu.2_Silent_p.L337L|TTC23_uc002buv.2_Silent_p.L337L|TTC23_uc002bux.2_Silent_p.L337L|TTC23_uc002buw.2_Silent_p.L337L|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Silent_p.L337L|TTC23_uc010bor.2_Silent_p.L337L|TTC23_uc002buz.2_Silent_p.L337L NM_022905 NP_075056 Q5W5X9 TTC23_HUMAN tetratricopeptide repeat domain 23 337 binding 0 all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215) GGGACTCTCTCAGGATCGAGG 0.502000 LRRK1 79705 broad.mit.edu 37 15 101609038 101609038 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr15:101609038T>A uc002bwr.2 + 34 6352 c.6033T>A c.(6031-6033)ACT>ACA p.T2011T LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 2011 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGGCTTGCACTCGCAAGAGAA 0.617000 NUBP2 10101 broad.mit.edu 37 16 1836884 1836884 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:1836884T>C uc002cmw.3 + 3 351 c.262T>C c.(262-264)TCG>CCG p.S88P NUBP2_uc002cmx.3_Intron|NUBP2_uc010brx.2_Missense_Mutation_p.S28P NM_012225 NP_036357 Q9Y5Y2 NUBP2_HUMAN nucleotide binding protein 2 (MinD homolog, E. 88 microtubule organizing center|nucleus 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding 0 GCAGAGCATCTCGCTCATGTC 0.697000 RPL3L 6123 broad.mit.edu 37 16 1995925 1995925 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:1995925A>C uc002cnh.2 - 8 1005 c.958T>G c.(958-960)TTC>GTC p.F320V SEPX1_uc010uvs.1_5'Flank NM_005061 NP_005052 Q92901 RL3L_HUMAN ribosomal protein L3-like 320 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome 0 TAGTGGGGGAAGCCACCCTGC 0.597000 ZSCAN10 84891 broad.mit.edu 37 16 3140576 3140576 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:3140576G>A uc002ctv.1 - 5 782 c.694C>T c.(694-696)CCC>TCC p.P232S ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Missense_Mutation_p.P150S|ZSCAN10_uc002ctx.1_Missense_Mutation_p.P160S NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 232 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GCTAAGATGGGAGTGGGCCAG 0.607000 C16orf71 146562 broad.mit.edu 37 16 4787904 4787904 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:4787904A>C uc002cxn.2 + 3 695 c.233A>C c.(232-234)AAG>ACG p.K78T NM_139170 NP_631909 Q8IYS4 CP071_HUMAN hypothetical protein LOC146562 78 central_nervous_system(1) 1 GATGGCGACAAGTCCAGGGCC 0.557000 PPL 5493 broad.mit.edu 37 16 4951037 4951037 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:4951037T>G uc002cyd.1 - 5 582 c.492A>C c.(490-492)CAA>CAC p.Q164H NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 164 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 GCTCCTCCACTTGGTGGTCCA 0.617000 GRIN2A 2903 broad.mit.edu 37 16 10274067 10274067 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:10274067T>G uc002czo.3 - 2 750 c.202A>C c.(202-204)AAC>CAC p.N68H GRIN2A_uc010uym.1_Missense_Mutation_p.N68H|GRIN2A_uc002czr.3_Missense_Mutation_p.N68H|GRIN2A_uc010buk.2_Missense_Mutation_p.N68H NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 68 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCTACCACGTTCACGTCCAGG 0.637000 CLEC16A 23274 broad.mit.edu 37 16 11217681 11217681 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:11217681A>C uc002dao.2 + 21 2581 c.2351A>C c.(2350-2352)AAG>ACG p.K784T CLEC16A_uc002dan.3_Missense_Mutation_p.K766T|CLEC16A_uc002dap.2_5'Flank NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 784 ovary(1)|central_nervous_system(1) 2 CCCCATTCCAAGCCCTTCCCC 0.617000 GPR139 124274 broad.mit.edu 37 16 20043272 20043272 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:20043272A>C uc002dgu.1 - 2 1009 c.847T>G c.(847-849)TTC>GTC p.F283V GPR139_uc010vaw.1_Missense_Mutation_p.F190V NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 283 Helical; Name=7; (Potential). integral to membrane|plasma membrane ovary(2) 2 CAGTAGAGGAAGAAGTTGATG 0.537000 NDUFAB1 4706 broad.mit.edu 37 16 23593647 23593647 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:23593647T>G uc002dlw.2 - 4 457 c.429A>C c.(427-429)GAA>GAC p.E143D NM_005003 NP_004994 O14561 ACPM_HUMAN NADH dehydrogenase (ubiquinone) 1, alpha/beta 143 fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone mitochondrial matrix|mitochondrial respiratory chain complex I acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|NADH dehydrogenase (ubiquinone) activity|phosphopantetheine binding 0 GBM - Glioblastoma multiforme(48;0.0339) NADH(DB00157) AATCTACAATTTCTTGTGGAC 0.289000 C16orf82 162083 broad.mit.edu 37 16 27078600 27078600 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:27078600A>C uc010vcm.1 + 1 382 c.284A>C c.(283-285)AAG>ACG p.K95T NM_001145545 NP_001139017 Q7Z2V1 TNT_HUMAN hypothetical protein LOC162083 158 0 GCAGGGGACAAGGAGGGCAGC 0.647000 ITGAL 3683 broad.mit.edu 37 16 30495458 30495458 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:30495458G>A uc002dyi.3 + 9 1056 c.880G>A c.(880-882)GAG>AAG p.E294K ITGAL_uc010veu.1_RNA|ITGAL_uc002dyj.3_Missense_Mutation_p.E211K|ITGAL_uc010vev.1_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 294 VWFA.|Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) TCAGACCAAGGAGAGTCAGGA 0.443000 PRR14 78994 broad.mit.edu 37 16 30667596 30667596 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:30667596A>C uc002dyy.2 + 12 1980 c.1722A>C c.(1720-1722)GAA>GAC p.E574D PRR14_uc002dyz.2_Missense_Mutation_p.E419D|PRR14_uc002dza.2_Missense_Mutation_p.E574D NM_024031 NP_076936 Q9BWN1 PRR14_HUMAN proline rich 14 574 0 Colorectal(24;0.103) TCCTGGAGGAAGAAACAGTAG 0.592000 SRCAP 10847 broad.mit.edu 37 16 30733499 30733499 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:30733499A>T uc002dze.1 + 22 3983 c.3598A>T c.(3598-3600)AAT>TAT p.N1200Y SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.N1057Y|SRCAP_uc010bzz.1_Missense_Mutation_p.N770Y NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1200 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) TCCAGTGGCTAATGCAGGGGG 0.572000 ORAI3 93129 broad.mit.edu 37 16 30964606 30964606 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:30964606T>G uc002eac.2 + 2 535 c.329T>G c.(328-330)CTC>CGC p.L110R NM_152288 NP_689501 Q9BRQ5 ORAI3_HUMAN ORAI calcium release-activated calcium modulator 110 Helical; (Potential). integral to membrane protein binding 0 GCTGTGCACCTCTTTGCACTC 0.602000 OREG0023742 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ITGAD 3681 broad.mit.edu 37 16 31405555 31405555 + Splice_Site SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:31405555A>G uc002ebv.1 + 2 81 c.32_splice c.e2-2 p.V11_splice ITGAD_uc010vfl.1_Splice_Site_p.V11_splice|ITGAD_uc010cap.1_Splice_Site_p.V11_splice NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 AATATTCCTCAGTCCTGGCTT 0.483000 CYLD 1540 broad.mit.edu 37 16 50830253 50830253 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:50830253A>T uc002egp.1 + 19 3120 c.2705A>T c.(2704-2706)AAC>ATC p.N902I CYLD_uc002egq.1_Missense_Mutation_p.N899I|CYLD_uc002egr.1_Missense_Mutation_p.N899I NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 902 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) AATGGCTTCAACATTCCTCAA 0.458000 Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial CCDC135 84229 broad.mit.edu 37 16 57760158 57760158 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:57760158A>C uc002emi.2 + 13 2026 c.1937A>C c.(1936-1938)AAG>ACG p.K646T CCDC135_uc002emj.2_Missense_Mutation_p.K646T|CCDC135_uc002emk.2_Missense_Mutation_p.K581T NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 646 cytoplasm central_nervous_system(1) 1 AAAGGCAACAAGATCATCATG 0.652000 C16orf57 79650 broad.mit.edu 37 16 58048232 58048232 + Splice_Site SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:58048232T>A uc002emz.2 + 4 586 c.503_splice c.e4+2 p.R168_splice C16orf57_uc010vib.1_Intron NM_024598 NP_078874 Q9BQ65 CP057_HUMAN hypothetical protein LOC79650 0 GAAAACCAGGTGGGTCCTCCC 0.378000 CSNK2A2 1459 broad.mit.edu 37 16 58201605 58201605 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:58201605A>G uc002enc.2 - 7 750 c.608T>C c.(607-609)CTC>CCC p.L203P NM_001896 NP_001887 P19784 CSK22_HUMAN casein kinase 2, alpha prime polypeptide 203 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|nucleus ATP binding|protein N-terminus binding|protein serine/threonine kinase activity central_nervous_system(1) 1 GTCCACGAGGAGCTCTGGTCC 0.443000 NFATC3 4775 broad.mit.edu 37 16 68156367 68156367 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:68156367C>T uc002evo.1 + 2 791 c.581C>T c.(580-582)TCA>TTA p.S194L NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.S194L|NFATC3_uc002evm.1_Missense_Mutation_p.S194L|NFATC3_uc002evn.1_Missense_Mutation_p.S194L|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 194 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) GATGTGGACTCAGAGTTGAAT 0.493000 NFATC3 4775 broad.mit.edu 37 16 68225203 68225203 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:68225203T>G uc002evo.1 + 9 2841 c.2631T>G c.(2629-2631)CCT>CCG p.P877P NFATC3_uc010vkl.1_Silent_p.P398P|NFATC3_uc010vkm.1_Silent_p.P398P|NFATC3_uc010vkn.1_Silent_p.P398P|NFATC3_uc010vko.1_Silent_p.P398P|NFATC3_uc010vkp.1_Silent_p.P398P|NFATC3_uc010vkq.1_Silent_p.P398P|NFATC3_uc002evl.2_Silent_p.P398P|NFATC3_uc002evk.2_Silent_p.P877P|NFATC3_uc002evm.1_Silent_p.P877P|NFATC3_uc002evn.1_Silent_p.P877P|NFATC3_uc010vkr.1_Silent_p.P398P|NFATC3_uc010vks.1_Silent_p.P398P|NFATC3_uc010vkt.1_Silent_p.P398P|NFATC3_uc010vku.1_Silent_p.P398P|NFATC3_uc010vkv.1_Silent_p.P398P|NFATC3_uc010vkw.1_Silent_p.P398P|NFATC3_uc010vkx.1_Silent_p.P398P|NFATC3_uc010vky.1_Silent_p.P398P|NFATC3_uc010vkz.1_Silent_p.P398P|NFATC3_uc010vla.1_Silent_p.P398P|NFATC3_uc010vlb.1_Silent_p.P398P|NFATC3_uc010vlc.1_Silent_p.P398P NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 877 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) ATACCCTGCCTCATCTGCAAT 0.443000 HYDIN 54768 broad.mit.edu 37 16 71008176 71008176 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:71008176T>G uc002ezr.2 - 33 5062 c.4934A>C c.(4933-4935)AAG>ACG p.K1645T NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 1646 ovary(1)|skin(1) 2 Ovarian(137;0.0654) AGGTAGATTCTTTACACGATC 0.418000 FTSJD1 55783 broad.mit.edu 37 16 71317997 71317997 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:71317997A>G uc010cga.2 - 3 2233 c.1827T>C c.(1825-1827)ACT>ACC p.T609T FTSJD1_uc002ezy.3_Silent_p.T609T|FTSJD1_uc002ezz.3_Silent_p.T609T NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 609 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 AACAGCTAAAAGTTGTGAGTT 0.418000 TAT 6898 broad.mit.edu 37 16 71610309 71610309 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:71610309A>G uc002fap.2 - 2 109 c.10T>C c.(10-12)TAC>CAC p.Y4H TAT_uc002faq.2_Missense_Mutation_p.Y4H|TAT_uc002far.2_Missense_Mutation_p.Y4H NM_000353 NP_000344 P17735 ATTY_HUMAN tyrosine aminotransferase 4 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(2) 2 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) TGAATCATGTATGGGTCCATC 0.507000 LDHD 197257 broad.mit.edu 37 16 75147704 75147704 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:75147704C>T uc002fdm.2 - 7 1010 c.963G>A c.(961-963)GCG>GCA p.A321A LDHD_uc002fdn.2_Silent_p.A298A NM_153486 NP_705690 Q86WU2 LDHD_HUMAN D-lactate dehydrogenase isoform 1 precursor 321 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding 0 AGAGTGTGGGCGCCACTAAGC 0.607000 KARS 3735 broad.mit.edu 37 16 75664405 75664405 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:75664405A>C uc002feq.2 - 11 1388 c.1340T>G c.(1339-1341)CTT>CGT p.L447R KARS_uc002fer.2_Missense_Mutation_p.L475R|KARS_uc002fes.2_Missense_Mutation_p.L291R NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 447 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding ovary(2) 2 L-Lysine(DB00123) CTCCCCAACAAGCTTAATGAG 0.423000 CNTNAP4 85445 broad.mit.edu 37 16 76486611 76486611 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:76486611A>T uc002feu.1 + 10 1663 c.1278A>T c.(1276-1278)GGA>GGT p.G426G CNTNAP4_uc002fev.1_Silent_p.G290G|CNTNAP4_uc010chb.1_Silent_p.G353G|CNTNAP4_uc002fex.1_Silent_p.G429G|CNTNAP4_uc002few.2_Silent_p.G401G NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 426 Extracellular (Potential).|Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TGAGTGATGGAAAACTTAAGT 0.433000 PLCG2 5336 broad.mit.edu 37 16 81953163 81953163 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:81953163T>C uc002fgt.2 + 20 2281 c.2129T>C c.(2128-2130)TTT>TCT p.F710S PLCG2_uc010chg.1_Missense_Mutation_p.F710S NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 710 SH2 2. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 TCCGCCTATTTTGAGAGTCTG 0.577000 SDR42E1 93517 broad.mit.edu 37 16 82033269 82033269 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:82033269T>G uc002fgu.2 - 3 757 c.629A>C c.(628-630)AAG>ACG p.K210T NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, 210 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding 0 GTAGACAAACTTGAACAGACC 0.542000 ZCCHC14 23174 broad.mit.edu 37 16 87446364 87446364 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:87446364T>C uc002fjz.1 - 12 1579 c.1552A>G c.(1552-1554)AGA>GGA p.R518G ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.R294G NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 518 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) GCGCTCCCTCTTTCCGGCTTG 0.547000 SMYD4 114826 broad.mit.edu 37 17 1704257 1704257 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:1704257T>A uc002ftm.3 - 5 599 c.431A>T c.(430-432)AAG>ATG p.K144M SMYD4_uc002ftn.1_Translation_Start_Site NM_052928 NP_443160 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 144 zinc ion binding skin(3)|kidney(2) 5 TAACATAATCTTGGGTTGCAA 0.473000 SPATA22 84690 broad.mit.edu 37 17 3352328 3352328 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:3352328T>A uc002fvm.2 - 6 682 c.445A>T c.(445-447)AGT>TGT p.S149C SPATA22_uc010vrg.1_Missense_Mutation_p.S133C|SPATA22_uc010vrf.1_Missense_Mutation_p.S149C|SPATA22_uc002fvn.2_Missense_Mutation_p.S149C|SPATA22_uc002fvo.2_Missense_Mutation_p.S149C|SPATA22_uc002fvp.2_Missense_Mutation_p.S149C|SPATA22_uc010ckf.2_Missense_Mutation_p.S106C NM_032598 NP_115987 Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 149 0 GCTCCCGAACTCACTGGACAA 0.353000 P2RX5 5026 broad.mit.edu 37 17 3593927 3593927 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:3593927G>A uc002fwi.2 - 4 692 c.408C>T c.(406-408)CAC>CAT p.H136H P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Silent_p.H136H|P2RX5_uc010vrx.1_Silent_p.H76H|P2RX5_uc002fwj.2_Silent_p.H112H|P2RX5_uc002fwk.2_Silent_p.H136H|P2RX5_uc002fwl.2_Silent_p.H112H|P2RX5_uc002fwm.1_Silent_p.H136H NM_002561 NP_002552 Q93086 P2RX5_HUMAN purinergic receptor P2X5 isoform A 136 Extracellular (Potential). nervous system development|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 CTTCCCCAGCGTGGCAGTCGC 0.647000 ANKFY1 51479 broad.mit.edu 37 17 4074022 4074022 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:4074022C>T uc002fxq.1 - 23 3311 c.3273G>A c.(3271-3273)CTG>CTA p.L1091L ANKFY1_uc002fxn.2_Silent_p.L1133L|ANKFY1_uc002fxo.2_Silent_p.L1092L|ANKFY1_uc002fxp.2_Silent_p.L1090L|ANKFY1_uc010ckp.2_Silent_p.L1033L NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 1091 endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 GCAGTCGGAACAGGAGCTGCT 0.567000 KIF1C 10749 broad.mit.edu 37 17 4925494 4925494 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:4925494C>T uc002gan.1 + 22 2444 c.2118C>T c.(2116-2118)ACC>ACT p.T706T NM_006612 NP_006603 O43896 KIF1C_HUMAN kinesin family member 1C 706 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity breast(2) 2 CGGTCCAGACCATTGTCAAAC 0.637000 USP6 9098 broad.mit.edu 37 17 5044777 5044777 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:5044777A>C uc002gau.1 + 23 3786 c.1556A>C c.(1555-1557)AAA>ACA p.K519T USP6_uc002gav.1_Missense_Mutation_p.K519T|USP6_uc010ckz.1_Missense_Mutation_p.K202T NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 519 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 AATAGTAGTAAAATAGATAGA 0.294000 T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts KIAA0753 9851 broad.mit.edu 37 17 6531699 6531699 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:6531699T>G uc002gde.3 - 3 815 c.456A>C c.(454-456)CAA>CAC p.Q152H KIAA0753_uc010clo.2_5'UTR|KIAA0753_uc010vte.1_5'UTR NM_014804 NP_055619 Q2KHM9 K0753_HUMAN hypothetical protein LOC9851 152 centrosome 0 COAD - Colon adenocarcinoma(228;0.157) GACAGGCTGCTTGACTCTTTG 0.458000 TEKT1 83659 broad.mit.edu 37 17 6716238 6716238 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:6716238T>C uc002gdt.2 - 6 874 c.764A>G c.(763-765)AAG>AGG p.K255R TEKT1_uc010vth.1_Missense_Mutation_p.K109R NM_053285 NP_444515 Q969V4 TEKT1_HUMAN tektin 1 255 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|skin(1) 2 Myeloproliferative disorder(207;0.0255) ATCACACTGCTTGCGCAGATC 0.542000 TNK1 8711 broad.mit.edu 37 17 7291747 7291747 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:7291747A>G uc002ggi.3 + 11 1675 c.1515A>G c.(1513-1515)TCA>TCG p.S505S TNK1_uc002ggj.3_Silent_p.S500S|TNK1_uc010cmf.2_RNA|TNK1_uc002ggk.3_Intron NM_003985 NP_003976 Q13470 TNK1_HUMAN tyrosine kinase, non-receptor, 1 505 protein autophosphorylation membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity lung(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(122;0.157) GTCTGGAGTCAGTTCTGTCCC 0.448000 DNAH2 146754 broad.mit.edu 37 17 7696052 7696052 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:7696052A>C uc002giu.1 + 46 7237 c.7223A>C c.(7222-7224)AAC>ACC p.N2408T NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2408 AAA 3 (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) TTGGTGGCCAACCAGAATCCC 0.622000 NTN1 9423 broad.mit.edu 37 17 8926112 8926112 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:8926112A>C uc002glw.3 + 2 529 c.422A>C c.(421-423)AAG>ACG p.K141T NM_004822 NP_004813 O95631 NET1_HUMAN netrin 1 precursor 141 Laminin N-terminal. apoptosis|axon guidance protein binding 0 CTCGGCAAGAAGTTCGAAGTG 0.612000 WDR16 146845 broad.mit.edu 37 17 9542013 9542013 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:9542013C>T uc002gly.2 + 12 1629 c.1560C>T c.(1558-1560)AGC>AGT p.S520S WDR16_uc002glz.2_Silent_p.S452S|WDR16_uc010coc.2_Silent_p.S530S NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 520 WD 9. cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 TCATCACCAGCGGAACAGACA 0.398000 MYH8 4626 broad.mit.edu 37 17 10300237 10300237 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:10300237A>C uc002gmm.2 - 31 4340 c.4245T>G c.(4243-4245)GCT>GCG p.A1415A uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1415 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TCTCAAGGGAAGCACATTTGG 0.507000 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling MYH1 4619 broad.mit.edu 37 17 10415458 10415458 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:10415458T>G uc002gmo.2 - 13 1293 c.1199A>C c.(1198-1200)AAA>ACA p.K400T uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 400 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 GCAGAGGGCTTTGAGCAGATC 0.468000 MYH2 4620 broad.mit.edu 37 17 10428180 10428180 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:10428180T>G uc010coi.2 - 34 4993 c.4865A>C c.(4864-4866)AAG>ACG p.K1622T uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.K1622T|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1622 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CTCCATCTTCTTCTTGAGCCT 0.507000 MYH2 4620 broad.mit.edu 37 17 10428375 10428375 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:10428375A>C uc010coi.2 - 34 4798 c.4670T>G c.(4669-4671)CTT>CGT p.L1557R uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.L1557R|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1557 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TTCATGTTCAAGAGATGCCTT 0.388000 DNAH9 1770 broad.mit.edu 37 17 11572875 11572875 + Missense_Mutation SNP A A C rs149721373 TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:11572875A>C uc002gne.2 + 17 3185 c.3117A>C c.(3115-3117)GAA>GAC p.E1039D DNAH9_uc010coo.2_Missense_Mutation_p.E333D NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1039 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTCCGGAAGAAATTGAAGACC 0.498000 NCOR1 9611 broad.mit.edu 37 17 15965203 15965203 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:15965203A>T uc002gpo.2 - 37 5633 c.5393T>A c.(5392-5394)CTG>CAG p.L1798Q NCOR1_uc002gpn.2_Missense_Mutation_p.L1814Q|NCOR1_uc002gpm.2_Missense_Mutation_p.L318Q|NCOR1_uc010vwb.1_Missense_Mutation_p.L382Q|NCOR1_uc010coy.2_Missense_Mutation_p.L706Q|NCOR1_uc010vwc.1_Missense_Mutation_p.L608Q NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1798 Interaction with ETO.|Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CCCAGCAGGCAGTGGCCTGTA 0.532000 CCDC144A 9720 broad.mit.edu 37 17 16610808 16610808 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:16610808A>T uc002gqk.1 + 4 766 c.690A>T c.(688-690)TCA>TCT p.S230S CCDC144A_uc002gql.1_5'UTR NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 230 0 AGCTGACATCAGAGGAAGAGC 0.328000 CCDC144A 9720 broad.mit.edu 37 17 16612142 16612142 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:16612142T>G uc002gqk.1 + 5 847 c.771T>G c.(769-771)GAT>GAG p.D257E CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 257 0 TGGCTAAGGATTGCGATAGAG 0.383000 MYO15A 51168 broad.mit.edu 37 17 18044990 18044990 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:18044990A>G uc010vxh.1 + 22 5893 c.5555A>G c.(5554-5556)AAG>AGG p.K1852R NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1852 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) GTGGCCCTCAAGCATGACCTG 0.567000 OREG0024223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MYO15A 51168 broad.mit.edu 37 17 18054711 18054711 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:18054711T>G uc010vxh.1 + 39 7995 c.7657T>G c.(7657-7659)TCA>GCA p.S2553A MYO15A_uc010vxi.1_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 2553 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) GCCCACAGCTTCACCCTCCCC 0.622000 MFAP4 4239 broad.mit.edu 37 17 19288525 19288525 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:19288525T>A uc002gvt.2 - 5 432 c.407A>T c.(406-408)GAG>GTG p.E136V MFAP4_uc002gvr.2_RNA|MFAP4_uc002gvs.2_Missense_Mutation_p.E160V NM_002404 NP_002395 P55083 MFAP4_HUMAN microfibrillar-associated protein 4 precursor 136 Fibrinogen C-terminal. cell adhesion|signal transduction microfibril receptor binding 0 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CGTGTTGTTCTCAAAGTCCTC 0.572000 ATAD5 79915 broad.mit.edu 37 17 29185224 29185224 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:29185224T>A uc002hfs.1 + 9 3185 c.2839T>A c.(2839-2841)TTG>ATG p.L947M ATAD5_uc002hft.1_Missense_Mutation_p.L844M NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 947 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AAGAAATCTTTTGCTTGAGGA 0.318000 CCL1 6346 broad.mit.edu 37 17 32690125 32690125 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:32690125T>G uc002hid.1 - 1 128 c.56A>C c.(55-57)GAA>GCA p.E19A NM_002981 NP_002972 P22362 CCL1_HUMAN small inducible cytokine A1 precursor 19 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity 0 Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) GTCCACATCTTCCGGCCACAT 0.572000 LIG3 3980 broad.mit.edu 37 17 33310344 33310344 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:33310344A>C uc002hik.1 + 2 428 c.320A>C c.(319-321)AAA>ACA p.K107T LIG3_uc002hii.2_Missense_Mutation_p.K107T|LIG3_uc002hij.2_Missense_Mutation_p.K107T|LIG3_uc010cth.1_Missense_Mutation_p.K116T NM_013975 NP_039269 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent isoform alpha 107 PARP-type. base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1) 9 Ovarian(249;0.17) Bleomycin(DB00290) GGCTGCAAAAAATGCAAGGAA 0.527000 Other_BER_factors LYZL6 57151 broad.mit.edu 37 17 34264911 34264911 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:34264911A>G uc002hkj.1 - 2 299 c.149T>C c.(148-150)CTG>CCG p.L50P LYZL6_uc002hkk.1_Missense_Mutation_p.L50P NM_020426 NP_065159 O75951 LYZL6_HUMAN lysozyme-like 6 precursor 50 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CACAAAAGCCAGGCACAGCCC 0.473000 ACACA 31 broad.mit.edu 37 17 35536243 35536243 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:35536243T>A uc002hnm.2 - 41 5117 c.4926A>T c.(4924-4926)CAA>CAT p.Q1642H ACACA_uc002hnk.2_Missense_Mutation_p.Q1564H|ACACA_uc002hnl.2_Missense_Mutation_p.Q1584H|ACACA_uc002hnn.2_Missense_Mutation_p.Q1642H|ACACA_uc002hno.2_Missense_Mutation_p.Q1679H|ACACA_uc010cuy.2_Intron NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1642 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CCAGCTGACCTTGATCATCCA 0.488000 GPR179 440435 broad.mit.edu 37 17 36486628 36486628 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:36486628A>C uc002hpz.2 - 11 2845 c.2824T>G c.(2824-2826)TTG>GTG p.L942V NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 942 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GACAGGGCCAAGATGGGGGTA 0.527000 KRT25 147183 broad.mit.edu 37 17 38911503 38911503 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:38911503A>G uc002hve.2 - 1 82 c.21T>C c.(19-21)AGT>AGC p.S7S NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN keratin 25 7 Head. cytoplasm|intermediate filament structural molecule activity ovary(2) 2 Breast(137;0.00526) TCCTGGATGCACTGGAAAGTC 0.498000 KRT38 8687 broad.mit.edu 37 17 39593675 39593675 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:39593675T>G uc002hwq.1 - 7 1783 c.1360A>C c.(1360-1362)AGC>CGC p.S454R NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 454 Tail. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) CAGAATCGGCTTCCGGTGGTG 0.587000 BECN1 8678 broad.mit.edu 37 17 40963766 40963766 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:40963766T>C uc002ibo.3 - 11 1226 c.1091A>G c.(1090-1092)AAG>AGG p.K364R BECN1_uc010whb.1_Missense_Mutation_p.K277R|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Missense_Mutation_p.K364R NM_003766 NP_003757 Q14457 BECN1_HUMAN beclin 1 364 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding ovary(1) 1 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) ATGGTCAAACTTGTTGTCCCA 0.498000 BRCA1 672 broad.mit.edu 37 17 41228549 41228549 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:41228549A>G uc002icq.2 - 13 4672 c.4440T>C c.(4438-4440)TCT>TCC p.S1480S BRCA1_uc010whp.1_Silent_p.S329S|BRCA1_uc010whl.1_Silent_p.S376S|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.S1409S|BRCA1_uc002icu.2_Silent_p.S376S|BRCA1_uc010cyx.2_Silent_p.S1433S|BRCA1_uc002ict.2_Silent_p.S1501S|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Silent_p.S209S|BRCA1_uc002idc.1_Silent_p.S376S|BRCA1_uc010whr.1_Silent_p.S330S NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 1480 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) AACTATCTGCAGACACCTCAA 0.358000 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) BRCA1 672 broad.mit.edu 37 17 41243775 41243775 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:41243775T>C uc002icq.2 - 10 4005 c.3773A>G c.(3772-3774)GAG>GGG p.E1258G BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.E1187G|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.E1211G|BRCA1_uc002ict.2_Missense_Mutation_p.E1258G|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.E1258G|BRCA1_uc002ide.1_Missense_Mutation_p.E1089G|BRCA1_uc010cyy.1_Missense_Mutation_p.E1258G|BRCA1_uc010whs.1_Missense_Mutation_p.E1258G|BRCA1_uc010cyz.2_Missense_Mutation_p.E1211G|BRCA1_uc010cza.2_Missense_Mutation_p.E1232G|BRCA1_uc010wht.1_Missense_Mutation_p.E962G NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 1258 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) TAATAAATTCTCCTCTGTGTT 0.383000 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) GPATCH8 23131 broad.mit.edu 37 17 42477192 42477192 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:42477192T>C uc002igw.1 - 8 2317 c.2253A>G c.(2251-2253)CAA>CAG p.Q751Q GPATCH8_uc002igv.1_Silent_p.Q673Q|GPATCH8_uc010wiz.1_Silent_p.Q673Q NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 751 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GGGAGTCATCTTGAGCTCTCC 0.582000 FZD2 2535 broad.mit.edu 37 17 42636483 42636483 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:42636483T>A uc002igx.1 + 1 1559 c.1427T>A c.(1426-1428)GTC>GAC p.V476D NM_001466 NP_001457 Q14332 FZD2_HUMAN frizzled 2 precursor 476 Helical; Name=6; (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GCCACCATCGTCATCGCTTGC 0.637000 MAPT 4137 broad.mit.edu 37 17 44067437 44067437 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:44067437T>G uc002ijr.3 + 8 1696 c.1376T>G c.(1375-1377)CTC>CGC p.L459R MAPT_uc010dau.2_Missense_Mutation_p.L459R|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 459 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) GAGATGAAACTCAAGGTAAGG 0.433000 WNT9B 7484 broad.mit.edu 37 17 44952679 44952679 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:44952679A>T uc002ikw.1 + 3 584 c.547A>T c.(547-549)AAC>TAC p.N183Y WNT9B_uc002ikx.1_Missense_Mutation_p.N183Y NM_003396 NP_003387 O14905 WNT9B_HUMAN wingless-type MMTV integration site family, 183 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) CAAGAGAGGAAACAAGGACCT 0.632000 KIF2B 84643 broad.mit.edu 37 17 51901856 51901856 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:51901856A>C uc002iua.2 + 1 1618 c.1462A>C c.(1462-1464)AAC>CAC p.N488H uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 488 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 TTTGGGTCAGAACAAGCCTCA 0.512000 EPX 8288 broad.mit.edu 37 17 56280628 56280628 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:56280628T>G uc002ivq.2 + 11 1981 c.1895T>G c.(1894-1896)CTT>CGT p.L632R NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 632 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 GTGGGGCCTCTTCTGGCTTGT 0.522000 LPO 4025 broad.mit.edu 37 17 56345352 56345352 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:56345352T>G uc002ivt.2 + 13 2452 c.2136T>G c.(2134-2136)AAT>AAG p.N712K LPO_uc010wns.1_Missense_Mutation_p.N653K|LPO_uc010dcp.2_Missense_Mutation_p.N629K|LPO_uc010dcq.2_Missense_Mutation_p.N383K|LPO_uc010dcr.2_Missense_Mutation_p.N275K NM_006151 NP_006142 P22079 PERL_HUMAN lactoperoxidase isoform 1 preproprotein 712 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|breast(1) 2 CAGTGAAGAATTAGGGGCCCG 0.567000 PRR11 55771 broad.mit.edu 37 17 57274918 57274918 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:57274918A>T uc002ixf.1 + 8 950 c.871A>T c.(871-873)AGT>TGT p.S291C PRR11_uc002ixg.1_RNA NM_018304 NP_060774 Q96HE9 PRR11_HUMAN proline rich 11 291 ovary(2) 2 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TCCTGGAAAAAGTCAGATGGA 0.244000 C17orf71 55181 broad.mit.edu 37 17 57288500 57288500 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:57288500A>T uc002ixi.2 + 1 1130 c.1088A>T c.(1087-1089)GAC>GTC p.D363V NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 363 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) ACTGTGAAGGACCCGGAATCT 0.537000 TANC2 26115 broad.mit.edu 37 17 61345122 61345122 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:61345122C>T uc002jal.3 + 7 848 c.825C>T c.(823-825)GCC>GCT p.A275A TANC2_uc010wpe.1_Silent_p.A185A NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 275 binding ovary(2) 2 CCAGCTCTGCCCACTTGGAAG 0.453000 ACE 1636 broad.mit.edu 37 17 61571295 61571295 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:61571295A>C uc002jau.1 + 21 3171 c.3149A>C c.(3148-3150)AAC>ACC p.N1050T ACE_uc002jav.1_Missense_Mutation_p.N476T|ACE_uc010ddv.1_Missense_Mutation_p.N277T|ACE_uc010wpj.1_Missense_Mutation_p.N476T|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.N296T NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 1050 Extracellular (Potential).|Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CATGACATCAACTTTCTGATG 0.572000 KCNH6 81033 broad.mit.edu 37 17 61607903 61607903 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:61607903G>A uc002jay.2 + 4 755 c.675G>A c.(673-675)CAG>CAA p.Q225Q KCNH6_uc002jax.1_Silent_p.Q225Q|KCNH6_uc010wpl.1_Silent_p.Q102Q|KCNH6_uc010wpm.1_Silent_p.Q225Q|KCNH6_uc002jaz.1_Silent_p.Q225Q NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 225 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) AGGTCACCCAGGTGCGGGCCT 0.642000 KCNH6 81033 broad.mit.edu 37 17 61613064 61613064 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:61613064G>A uc002jay.2 + 6 1216 c.1136G>A c.(1135-1137)CGG>CAG p.R379Q KCNH6_uc002jax.1_Missense_Mutation_p.R379Q|KCNH6_uc010wpl.1_Missense_Mutation_p.R256Q|KCNH6_uc010wpm.1_Missense_Mutation_p.R379Q|KCNH6_uc002jaz.1_Missense_Mutation_p.R379Q NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 379 Helical; Voltage-sensor; Name=Segment S4; (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) AAGACAGCGCGGCTGCTGCGG 0.617000 FTSJ3 117246 broad.mit.edu 37 17 61897227 61897227 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:61897227T>G uc002jbz.2 - 20 2557 c.2479A>C c.(2479-2481)AGG>CGG p.R827R FTSJ3_uc002jca.2_Silent_p.R827R NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 827 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 TTCTTCATCCTTGAGTCCACC 0.527000 LRRC37A3 374819 broad.mit.edu 37 17 62893362 62893362 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:62893362T>C uc002jey.2 - 3 545 c.14A>G c.(13-15)CAG>CGG p.Q5R LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 5 integral to membrane 0 TGCCGGGCACTGAGCGGAAGT 0.562000 CCDC46 201134 broad.mit.edu 37 17 63957711 63957711 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:63957711T>A uc002jfl.2 - 18 1961 c.1742A>T c.(1741-1743)AAA>ATA p.K581I CCDC46_uc010deo.2_Missense_Mutation_p.K323I|CCDC46_uc002jfm.2_Missense_Mutation_p.K581I|CCDC46_uc010dep.2_Missense_Mutation_p.K539I NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 581 Potential. centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) CTGCTCCTCTTTTTCCCTAGA 0.443000 COG1 9382 broad.mit.edu 37 17 71197502 71197502 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:71197502T>G uc002jjg.2 + 7 1572 c.1536T>G c.(1534-1536)CCT>CCG p.P512P COG1_uc002jjh.2_Silent_p.P512P|COG1_uc002jjf.1_Silent_p.P512P NM_018714 NP_061184 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 512 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.197) CCATCAGCCCTTGTGTACAGA 0.547000 SDK2 54549 broad.mit.edu 37 17 71398177 71398177 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:71398177T>G uc010dfm.2 - 19 2588 c.2588A>C c.(2587-2589)AAG>ACG p.K863T SDK2_uc002jjt.3_Missense_Mutation_p.K22T|SDK2_uc010dfn.2_Missense_Mutation_p.K542T NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 863 Fibronectin type-III 3.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 CTCGGTGAACTTCTTCAGGCC 0.617000 CD300E 342510 broad.mit.edu 37 17 72613331 72613331 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:72613331T>G uc002jlb.1 - 2 355 c.314A>C c.(313-315)AAA>ACA p.K105T NM_181449 NP_852114 Q496F6 CLM2_HUMAN CD300e molecule precursor 105 Ig-like V-type.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TGTCTGAATTTTGCACCAGTA 0.547000 CYTH1 9267 broad.mit.edu 37 17 76698666 76698666 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:76698666T>G uc002jvw.2 - 4 262 c.191A>C c.(190-192)AAA>ACA p.K64T CYTH1_uc010wtw.1_Missense_Mutation_p.K5T|CYTH1_uc010wtx.1_Missense_Mutation_p.K5T NM_017456 NP_059430 Q15438 CYH1_HUMAN cytohesin 1 isoform 2 64 Potential. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 GGCTACCTGTTTGTTCCTCTG 0.388000 BAIAP2 10458 broad.mit.edu 37 17 79073837 79073837 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:79073837A>G uc002jzg.2 + 7 707 c.599A>G c.(598-600)AAG>AGG p.K200R BAIAP2_uc002jyz.3_Missense_Mutation_p.K200R|BAIAP2_uc002jza.2_Missense_Mutation_p.K200R|BAIAP2_uc002jzc.2_Missense_Mutation_p.K200R|BAIAP2_uc002jzb.2_5'UTR|BAIAP2_uc002jzd.2_Missense_Mutation_p.K200R|BAIAP2_uc002jzf.2_Missense_Mutation_p.K200R|BAIAP2_uc002jze.2_Missense_Mutation_p.K233R|BAIAP2_uc010wuh.1_Missense_Mutation_p.K122R|BAIAP2_uc002jzh.2_Missense_Mutation_p.K201R|BAIAP2_uc010wui.1_Missense_Mutation_p.K63R NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 isoform 2 200 IMD. axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding 0 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CTGGTGGAGAAGCAGTGCGCC 0.647000 ZNF750 79755 broad.mit.edu 37 17 80788538 80788538 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr17:80788538A>C uc002kga.2 - 3 1963 c.1652T>G c.(1651-1653)CTC>CGC p.L551R TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 551 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) CGAGAGATTGAGTGGAAGGTC 0.602000 NDC80 10403 broad.mit.edu 37 18 2577822 2577822 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr18:2577822T>G uc002kli.2 + 4 439 c.257T>G c.(256-258)CTT>CGT p.L86R NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 86 Interaction with the N-terminus of CDCA1.|Nuclear localization. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 CCGAGACCACTTAATGACAAA 0.363000 LAMA1 284217 broad.mit.edu 37 18 6978368 6978368 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr18:6978368T>C uc002knm.2 - 43 6111 c.6017A>G c.(6016-6018)GAC>GGC p.D2006G LAMA1_uc010wzj.1_Missense_Mutation_p.D1482G NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2006 Domain II and I. 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) GGCTCCCTTGTCTCTTATACC 0.473000 LRRC30 339291 broad.mit.edu 37 18 7231432 7231432 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr18:7231432T>G uc010wzk.1 + 1 296 c.296T>G c.(295-297)CTG>CGG p.L99R NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 99 LRR 2. ovary(1)|liver(1) 2 ATCGTGGTCCTGAACTTGTGC 0.572000 KIAA0802 23255 broad.mit.edu 37 18 8825346 8825346 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr18:8825346T>A uc002knr.2 + 15 3980 c.3838T>A c.(3838-3840)TTG>ATG p.L1280M KIAA0802_uc002knq.2_Missense_Mutation_p.L1239M|KIAA0802_uc002kns.2_Missense_Mutation_p.L620M NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 1590 0 GTCCAAGAACTTGAGTGATGA 0.607000 RALBP1 10928 broad.mit.edu 37 18 9535697 9535697 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr18:9535697T>G uc002kob.2 + 10 1953 c.1730T>G c.(1729-1731)ATT>AGT p.I577S RALBP1_uc002koc.2_Missense_Mutation_p.I577S NM_006788 NP_006779 Q15311 RBP1_HUMAN ralA binding protein 1 577 chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding central_nervous_system(1) 1 AATCAAGCAATTCATGAGGAG 0.557000 PTPN2 5771 broad.mit.edu 37 18 12817314 12817314 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr18:12817314A>C uc002krp.2 - 6 740 c.546T>G c.(544-546)GAT>GAG p.D182E PTPN2_uc002krl.2_Missense_Mutation_p.D182E|PTPN2_uc002krn.2_Missense_Mutation_p.D205E|PTPN2_uc002kro.2_Missense_Mutation_p.D182E|PTPN2_uc002krm.2_Missense_Mutation_p.D182E NM_002828 NP_002819 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 182 Tyrosine-protein phosphatase. Substrate (By similarity). interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding skin(2) 2 Lung NSC(161;8.94e-06) GGACTCCAAAATCTGGCCAGG 0.398000 RBBP8 5932 broad.mit.edu 37 18 20573460 20573460 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr18:20573460A>T uc002ktw.2 + 11 2001 c.1670A>T c.(1669-1671)GAA>GTA p.E557V RBBP8_uc002kty.2_Missense_Mutation_p.E557V|RBBP8_uc002ktz.2_Missense_Mutation_p.E557V|RBBP8_uc002kua.2_Missense_Mutation_p.E557V|RBBP8_uc010xap.1_5'Flank|RBBP8_uc002ktx.1_Missense_Mutation_p.E557V NM_002894 NP_002885 Q99708 COM1_HUMAN retinoblastoma binding protein 8 isoform a 557 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity ovary(1)|lung(1)|skin(1) 3 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TGTTCACAGGAATGCATCATC 0.448000 Direct_reversal_of_damage|Homologous_recombination MAPRE2 10982 broad.mit.edu 37 18 32706943 32706943 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr18:32706943A>T uc002kyg.2 + 5 822 c.642A>T c.(640-642)CCA>CCT p.P214P MAPRE2_uc010xcb.1_Silent_p.P171P|MAPRE2_uc010xcc.1_Silent_p.P202P|MAPRE2_uc002kyf.2_Silent_p.P214P|MAPRE2_uc002kyh.2_Silent_p.P161P|MAPRE2_uc010xcd.1_Silent_p.P171P NM_014268 NP_055083 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, 214 DCTN1-binding. cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding ovary(1) 1 CAGCTAAACCAGGATCCACAC 0.403000 KIAA1328 57536 broad.mit.edu 37 18 34740221 34740221 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr18:34740221C>T uc002kzz.2 + 8 1313 c.1291C>T c.(1291-1293)CAC>TAC p.H431Y KIAA1328_uc002lab.2_Missense_Mutation_p.H183Y|KIAA1328_uc002lac.1_Missense_Mutation_p.H290Y|KIAA1328_uc010dnc.1_RNA NM_020776 NP_065827 Q86T90 K1328_HUMAN hypothetical protein LOC57536 431 central_nervous_system(1) 1 COAD - Colon adenocarcinoma(74;0.195) TATTAAAAAGCACCAAGACCC 0.428000 WDR7 23335 broad.mit.edu 37 18 54363663 54363663 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr18:54363663T>A uc002lgk.1 + 12 1759 c.1548T>A c.(1546-1548)ACT>ACA p.T516T WDR7_uc010dpk.1_Intron|WDR7_uc002lgl.1_Silent_p.T516T NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 516 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) GTGAGATTACTCAACTTCTAG 0.333000 SEC11C 90701 broad.mit.edu 37 18 56825903 56825903 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr18:56825903A>C uc002lht.2 + 6 621 c.565A>C c.(565-567)AAA>CAA p.K189Q NM_033280 NP_150596 Q9BY50 SC11C_HUMAN SEC11-like 3 189 Lumenal (Potential). energy reserve metabolic process|regulation of insulin secretion|signal peptide processing endoplasmic reticulum membrane|integral to membrane|microsome serine-type peptidase activity 0 Colorectal(73;0.175) TGTGTTACTAAAACGTGAATC 0.343000 SERPINB4 6318 broad.mit.edu 37 18 61326731 61326731 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr18:61326731A>T uc002ljg.2 - 3 279 c.253T>A c.(253-255)TTT>ATT p.F85I SERPINB3_uc002lji.2_Missense_Mutation_p.F85I|SERPINB3_uc010dqa.2_Missense_Mutation_p.F85I|SERPINB3_uc010dqb.2_Missense_Mutation_p.F85I P48594 SPB4_HUMAN SubName: Full=Squamous cell carcinoma antigen 2; 85 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 AGCTTTTGAAACTGGTGATGA 0.368000 SERPINB11 89778 broad.mit.edu 37 18 61377558 61377558 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr18:61377558T>G uc002ljk.3 + 2 193 c.131T>G c.(130-132)CTT>CGT p.L44R SERPINB11_uc010xes.1_5'UTR|SERPINB11_uc010dqd.2_5'UTR|SERPINB11_uc002ljj.3_5'UTR|SERPINB11_uc010dqe.2_5'UTR|SERPINB11_uc010dqf.2_Missense_Mutation_p.L44R NM_080475 NP_536723 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B, member 11 44 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1) 1 Esophageal squamous(42;0.129) ATGGTCCTCCTTGGTGCCAGG 0.458000 SERPINB2 5055 broad.mit.edu 37 18 61564434 61564434 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr18:61564434A>C uc010xeu.1 + 5 731 c.398A>C c.(397-399)AAG>ACG p.K133T SERPINB2_uc002ljo.2_Missense_Mutation_p.K133T|SERPINB2_uc010dqh.2_Missense_Mutation_p.K63T|SERPINB2_uc002ljp.1_5'UTR|SERPINB2_uc002ljq.1_5'UTR NM_001143818 NP_001137290 P05120 PAI2_HUMAN serine (or cysteine) proteinase inhibitor, clade 133 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity lung(1)|skin(1) 2 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TTTGGTGAGAAGTCTGCGAGC 0.418000 SALL3 27164 broad.mit.edu 37 18 76754796 76754796 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr18:76754796C>T uc002lmt.2 + 2 2805 c.2805C>T c.(2803-2805)ACC>ACT p.T935T SALL3_uc010dra.2_Silent_p.T542T NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 935 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) CGCTCAAGACCGAGAGGCCGG 0.547000 LMNB2 84823 broad.mit.edu 37 19 2433832 2433832 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:2433832A>G uc002lvy.2 - 8 1501 c.1414T>C c.(1414-1416)TCG>CCG p.S472P LMNB2_uc002lwa.1_Missense_Mutation_p.S492P NM_032737 NP_116126 Q03252 LMNB2_HUMAN lamin B2 472 Tail. nuclear inner membrane structural molecule activity large_intestine(1)|ovary(1) 2 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) ACCTTGTCCGAGTTGTTCTTG 0.652000 SGTA 6449 broad.mit.edu 37 19 2767593 2767593 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:2767593C>T uc002lwi.1 - 3 339 c.192G>A c.(190-192)GCG>GCA p.A64A NM_003021 NP_003012 O43765 SGTA_HUMAN small glutamine-rich tetratricopeptide 64 interspecies interaction between organisms cytoplasm protein binding ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGTGGCAGCCGCTTCAAATA 0.622000 ZNF556 80032 broad.mit.edu 37 19 2877903 2877903 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:2877903A>C uc002lwp.1 + 4 1034 c.947A>C c.(946-948)AAG>ACG p.K316T ZNF556_uc002lwq.2_Missense_Mutation_p.K315T NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN zinc finger protein 556 316 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3) 3 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) AAACCCTATAAGTGTGGAAAA 0.522000 PIP5K1C 23396 broad.mit.edu 37 19 3653457 3653457 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:3653457T>C uc002lyj.1 - 7 809 c.752A>G c.(751-753)AAG>AGG p.K251R PIP5K1C_uc010xhq.1_Missense_Mutation_p.K251R|PIP5K1C_uc010xhr.1_Missense_Mutation_p.K251R NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 251 PIPK. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) GAGGTCGAACTTGAGGTGCAT 0.582000 MPND 84954 broad.mit.edu 37 19 4345893 4345893 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:4345893A>C uc002mae.2 + 3 513 c.446A>C c.(445-447)AAG>ACG p.K149T MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.K149T|MPND_uc002maf.2_Missense_Mutation_p.K149T|MPND_uc002mah.2_Missense_Mutation_p.K37T|MPND_uc002mai.2_Missense_Mutation_p.K37T NM_032868 NP_116257 Q8N594 MPND_HUMAN MPN domain containing isoform 1 149 peptidase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTCTGTCAAGTACAAAGGC 0.627000 CHAF1A 10036 broad.mit.edu 37 19 4409730 4409730 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:4409730T>G uc002mal.2 + 3 1034 c.934T>G c.(934-936)TTC>GTC p.F312V NM_005483 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 312 Binds to CBX1 chromo shadow domain. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) TACCAGTCCCTTCCCCACCTC 0.622000 Chromatin_Structure VAV1 7409 broad.mit.edu 37 19 6772985 6772985 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:6772985A>C uc002mfu.1 + 1 264 c.167A>C c.(166-168)AAC>ACC p.N56T VAV1_uc010xjh.1_Missense_Mutation_p.N56T|VAV1_uc010dva.1_Missense_Mutation_p.N56T NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 56 Leu-rich.|CH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 CATGCCATCAACCTGCGTGAG 0.652000 ARHGEF18 23370 broad.mit.edu 37 19 7509198 7509198 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:7509198G>A uc002mgi.2 + 4 1158 c.905G>A c.(904-906)CGC>CAC p.R302H ARHGEF18_uc010xjm.1_Missense_Mutation_p.R144H|ARHGEF18_uc002mgh.2_Missense_Mutation_p.R144H|ARHGEF18_uc002mgj.1_5'Flank NM_001130955 NP_001124427 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor 18 302 DH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 Renal(5;0.0902) GCCATTGGCCGCCTCTTCCCA 0.647000 C19orf59 199675 broad.mit.edu 37 19 7742562 7742562 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:7742562T>G uc002mhh.1 + 2 159 c.134T>G c.(133-135)TTC>TGC p.F45C NM_174918 NP_777578 Q8IX19 MCEM1_HUMAN mast cell-expressed membrane protein 1 45 Cytoplasmic (Potential). integral to membrane skin(1) 1 ACCTTGGCCTTCAAAAATCAG 0.562000 OREG0025208 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MUC16 94025 broad.mit.edu 37 19 9063622 9063622 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:9063622A>C uc002mkp.2 - 3 24028 c.23824T>G c.(23824-23826)TCA>GCA p.S7942A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7944 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 TGTGAGTGTGAAAATCCTTGA 0.458000 MUC16 94025 broad.mit.edu 37 19 9073199 9073199 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:9073199T>C uc002mkp.2 - 3 14451 c.14247A>G c.(14245-14247)GCA>GCG p.A4749A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4751 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 CAAGGACAGGTGCTTGAGAAG 0.473000 MUC16 94025 broad.mit.edu 37 19 9076652 9076652 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:9076652A>G uc002mkp.2 - 3 10998 c.10794T>C c.(10792-10794)ACT>ACC p.T3598T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3599 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 TCAAGTTTGAAGTCATGTCTG 0.483000 OR7D2 162998 broad.mit.edu 37 19 9296924 9296924 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:9296924C>T uc002mkz.1 + 1 655 c.467C>T c.(466-468)TCC>TTC p.S156F NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, 156 Helical; Name=4; (Potential). regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|upper_aerodigestive_tract(1) 3 GTCATGACATCCCTCCTCCAT 0.468000 ZNF699 374879 broad.mit.edu 37 19 9406765 9406765 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:9406765T>G uc002mlc.1 - 5 1315 c.1315A>C c.(1315-1317)AAA>CAA p.K439Q NM_198535 NP_940937 Q32M78 ZN699_HUMAN zinc finger protein 699 439 C2H2-type 9; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTTGATTTTTCACATGTGTA 0.418000 ZNF560 147741 broad.mit.edu 37 19 9578937 9578937 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:9578937A>G uc002mlp.1 - 10 896 c.686T>C c.(685-687)CTT>CCT p.L229P ZNF560_uc010dwr.1_Missense_Mutation_p.L123P NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 GTTGGTCTTAAGGCATGGATG 0.378000 RGL3 57139 broad.mit.edu 37 19 11515881 11515881 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:11515881A>G uc002mrp.2 - 9 1191 c.1127T>C c.(1126-1128)CTT>CCT p.L376P RGL3_uc002mrn.2_Missense_Mutation_p.L140P|RGL3_uc002mrm.2_Missense_Mutation_p.L140P|RGL3_uc002mro.2_Missense_Mutation_p.L376P NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 376 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular p.S376S(1) ovary(1) 1 AATCTGCGAAAGTTTCCTGAA 0.542000 ZNF653 115950 broad.mit.edu 37 19 11597811 11597811 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:11597811T>C uc002mrz.1 - 5 1387 c.1334A>G c.(1333-1335)GAG>GGG p.E445G NM_138783 NP_620138 Q96CK0 ZN653_HUMAN zinc finger protein 653 445 Nuclear localization signal (Potential). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTCTCAGGCTCCTTGGGGAT 0.677000 ZNF441 126068 broad.mit.edu 37 19 11891643 11891643 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:11891643C>T uc010dyj.2 + 4 1198 c.1004C>T c.(1003-1005)CCG>CTG p.P335L ZNF441_uc002msn.3_Missense_Mutation_p.P291L NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GGAGAGAAACCGTATGAATGT 0.418000 ZNF563 147837 broad.mit.edu 37 19 12429443 12429443 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:12429443T>G uc002mtp.2 - 4 1634 c.1396A>C c.(1396-1398)AGA>CGA p.R466R NM_145276 NP_660319 Q8TA94 ZN563_HUMAN zinc finger protein 563 466 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTTTCATGTCTTTGACATACA 0.368000 ZNF442 79973 broad.mit.edu 37 19 12461443 12461443 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:12461443T>G uc002mtr.1 - 6 1567 c.956A>C c.(955-957)AAA>ACA p.K319T ZNF442_uc010xmk.1_Missense_Mutation_p.K250T NM_030824 NP_110451 Q9H7R0 ZN442_HUMAN zinc finger protein 442 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|breast(1)|kidney(1) 4 TTCATAGGGTTTCTCTCCAGT 0.423000 ZNF799 90576 broad.mit.edu 37 19 12502375 12502375 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:12502375T>C uc010dyt.2 - 4 987 c.837A>G c.(835-837)AAA>AAG p.K279K ZNF799_uc002mts.3_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN zinc finger protein 799 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 ATGTATAGGGTTTCTTTCCAG 0.423000 PRKACA 5566 broad.mit.edu 37 19 14208394 14208394 + Missense_Mutation SNP G G C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:14208394G>C uc002myc.2 - 7 839 c.639C>G c.(637-639)AGC>AGG p.S213R PRKACA_uc002myb.2_Missense_Mutation_p.S205R|PRKACA_uc010xnm.1_Missense_Mutation_p.S155R|PRKACA_uc002myd.2_Missense_Mutation_p.S155R NM_002730 NP_002721 P17612 KAPCA_HUMAN cAMP-dependent protein kinase catalytic subunit 213 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding lung(1) 1 CTCCTACTTTGCTCAGGATAA 0.652000 LPHN1 22859 broad.mit.edu 37 19 14271421 14271421 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:14271421T>G uc010xnn.1 - 8 1909 c.1613A>C c.(1612-1614)AAC>ACC p.N538T LPHN1_uc010xno.1_Missense_Mutation_p.N533T|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 538 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 GGCCACCTGGTTGACCCAGGG 0.662000 EMR2 30817 broad.mit.edu 37 19 14857053 14857053 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:14857053C>T uc002mzp.1 - 18 2630 c.2174G>A c.(2173-2175)CGG>CAG p.R725Q EMR2_uc010dzs.1_Missense_Mutation_p.R184Q|EMR2_uc010xnw.1_Missense_Mutation_p.R667Q|EMR2_uc002mzo.1_Missense_Mutation_p.R714Q|EMR2_uc002mzq.1_Missense_Mutation_p.R665Q|EMR2_uc002mzr.1_Missense_Mutation_p.R676Q|EMR2_uc002mzs.1_Missense_Mutation_p.R583Q|EMR2_uc002mzt.1_Missense_Mutation_p.R621Q|EMR2_uc002mzu.1_Missense_Mutation_p.R632Q|EMR2_uc010xnx.1_RNA NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 725 Cytoplasmic (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 CCTTGTGTTCCGGAGGGTGGA 0.483000 SLC1A6 6511 broad.mit.edu 37 19 15061178 15061178 + Missense_Mutation SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:15061178G>T uc002naa.1 - 9 1532 c.1524C>A c.(1522-1524)AAC>AAA p.N508K SLC1A6_uc010dzu.1_Missense_Mutation_p.N430K|SLC1A6_uc010xod.1_Missense_Mutation_p.N444K NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 508 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) CCCCCAGTACGTTGGTCATTG 0.577000 OR10H2 26538 broad.mit.edu 37 19 15839343 15839343 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:15839343T>G uc002nbm.2 + 1 510 c.490T>G c.(490-492)TTC>GTC p.F164V NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 164 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) CTCGGCCATTTTCCAACTGAC 0.567000 CPAMD8 27151 broad.mit.edu 37 19 17088246 17088246 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:17088246C>T uc002nfb.2 - 15 1863 c.1831G>A c.(1831-1833)GTC>ATC p.V611I NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 564 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 TTCTCCCTGACGTAGAAGACC 0.592000 UNC13A 23025 broad.mit.edu 37 19 17728589 17728589 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:17728589A>C uc002nhd.2 - 40 4744 c.4744T>G c.(4744-4746)TTG>GTG p.L1582V NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 1494 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 GCATAGCGCAAGGATTGCAGG 0.602000 GDF15 9518 broad.mit.edu 37 19 18499616 18499616 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:18499616C>T uc002niv.2 + 2 830 c.798C>T c.(796-798)CCC>CCT p.P266P NM_004864 NP_004855 Q99988 GDF15_HUMAN growth differentiation factor 15 266 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1) 1 GCCTGAAGCCCGACACGGTGC 0.637000 OREG0025363 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZNF93 81931 broad.mit.edu 37 19 20044675 20044675 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:20044675A>C uc002non.2 + 4 1022 c.911A>C c.(910-912)AAG>ACG p.K304T NM_031218 NP_112495 P35789 ZNF93_HUMAN zinc finger protein 93 304 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 ACTAAACATAAGAAAATTCAT 0.363000 ZNF493 284443 broad.mit.edu 37 19 21606364 21606364 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:21606364T>G uc002npx.2 + 2 799 c.519T>G c.(517-519)ACT>ACG p.T173T ZNF493_uc002npw.2_Silent_p.T301T|ZNF493_uc002npy.2_Silent_p.T173T NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 173 C2H2-type 6; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATGGCAAAACTTTTAACCAAT 0.333000 ZNF43 7594 broad.mit.edu 37 19 21990896 21990896 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:21990896T>G uc002nqj.2 - 4 2073 c.1943A>C c.(1942-1944)AAA>ACA p.K648T ZNF43_uc010ecv.2_Missense_Mutation_p.K642T|ZNF43_uc002nql.2_Missense_Mutation_p.K642T|ZNF43_uc002nqm.2_Missense_Mutation_p.K642T|ZNF43_uc002nqk.2_Missense_Mutation_p.K578T NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 648 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TTTGTAGGGTTTCTCCTCAGT 0.368000 ZNF681 148213 broad.mit.edu 37 19 23927176 23927176 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:23927176T>G uc002nrk.3 - 4 1318 c.1176A>C c.(1174-1176)AAA>AAC p.K392N ZNF681_uc002nrl.3_Missense_Mutation_p.K323N|ZNF681_uc002nrj.3_Missense_Mutation_p.K323N NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ATTTGTAGGGTTTCTCTCCAG 0.408000 ARHGAP33 115703 broad.mit.edu 37 19 36275211 36275211 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:36275211A>G uc002obr.1 + 16 1644 c.1559A>G c.(1558-1560)GAC>GGC p.D520G ARHGAP33_uc002obs.1_Missense_Mutation_p.D520G|ARHGAP33_uc002obt.1_Missense_Mutation_p.D384G|ARHGAP33_uc010eel.2_Missense_Mutation_p.D108G|ARHGAP33_uc002obv.1_Missense_Mutation_p.D108G NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 520 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 GCCGGCCTCGACCCTGCAGGT 0.677000 APLP1 333 broad.mit.edu 37 19 36362645 36362645 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:36362645T>G uc002oce.2 + 5 807 c.669T>G c.(667-669)GTT>GTG p.V223V APLP1_uc010xsz.1_Silent_p.V184V|APLP1_uc002ocf.2_Silent_p.V223V|APLP1_uc002ocg.2_Silent_p.V126V|APLP1_uc010xta.1_Silent_p.V217V NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 223 Extracellular (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGACAGCAGTTGGGTGAGTGG 0.637000 NFKBID 84807 broad.mit.edu 37 19 36387301 36387301 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:36387301A>C uc002oci.1 - 7 972 c.398T>G c.(397-399)GTT>GGT p.V133G NFKBID_uc002och.1_5'UTR|NFKBID_uc002ocj.1_Missense_Mutation_p.V148G NM_139239 NP_640332 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene 133 ANK 3. inflammatory response nucleus 0 TACCAAGAGAACTCCTGGGAG 0.602000 ZFP82 284406 broad.mit.edu 37 19 36884189 36884189 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:36884189T>G uc002ody.1 - 5 1288 c.1053A>C c.(1051-1053)CAA>CAC p.Q351H NM_133466 NP_597723 Q8N141 ZFP82_HUMAN zinc finger protein 82 homolog 351 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 GTGTTAGTTGTTGTCGCACTC 0.423000 ZFP82 284406 broad.mit.edu 37 19 36898797 36898797 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:36898797A>C uc002ody.1 - 3 363 c.128T>G c.(127-129)GTC>GGC p.V43G NM_133466 NP_597723 Q8N141 ZFP82_HUMAN zinc finger protein 82 homolog 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 ACCCAGTGAGACCAAGTTGCT 0.403000 ZNF382 84911 broad.mit.edu 37 19 37117974 37117974 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:37117974A>C uc002oek.2 + 5 1288 c.1175A>C c.(1174-1176)AAG>ACG p.K392T ZNF382_uc010efa.2_Missense_Mutation_p.K343T|ZNF382_uc010efb.2_Missense_Mutation_p.K391T|ZNF382_uc002oel.2_Missense_Mutation_p.K391T NM_032825 NP_116214 Q96SR6 ZN382_HUMAN zinc finger protein 382 392 C2H2-type 5.|Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TTTAGGAAGAAGTCATACCTC 0.473000 ZNF793 390927 broad.mit.edu 37 19 38028502 38028502 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:38028502T>G uc010efm.2 + 8 1384 c.942T>G c.(940-942)AGT>AGG p.S314R ZNF793_uc010xts.1_Missense_Mutation_p.S314R|ZNF793_uc010efo.2_Intron NM_001013659 NP_001013681 Q6ZN11 ZN793_HUMAN zinc finger protein 793 314 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTGTCTGCAGTGAATGCGGGA 0.448000 ZNF573 126231 broad.mit.edu 37 19 38230164 38230164 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:38230164A>T uc002ohe.2 - 4 1249 c.1227T>A c.(1225-1227)ACT>ACA p.T409T ZNF573_uc010efs.2_Silent_p.T322T|ZNF573_uc002ohd.2_Silent_p.T407T|ZNF573_uc002ohf.2_Silent_p.T351T|ZNF573_uc002ohg.2_Silent_p.T321T NM_152360 NP_689573 Q86YE8 ZN573_HUMAN zinc finger protein 573 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) GTTTCTCGCCAGTATGAGTTT 0.383000 ZNF573 126231 broad.mit.edu 37 19 38230495 38230495 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:38230495T>A uc002ohe.2 - 4 918 c.896A>T c.(895-897)GAG>GTG p.E299V ZNF573_uc010efs.2_Missense_Mutation_p.E212V|ZNF573_uc002ohd.2_Missense_Mutation_p.E297V|ZNF573_uc002ohf.2_Missense_Mutation_p.E241V|ZNF573_uc002ohg.2_Missense_Mutation_p.E211V NM_152360 NP_689573 Q86YE8 ZN573_HUMAN zinc finger protein 573 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) GTATGGCTTCTCATCAGTATG 0.403000 RYR1 6261 broad.mit.edu 37 19 38995497 38995497 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:38995497A>C uc002oit.2 + 51 8307 c.8177A>C c.(8176-8178)AAG>ACG p.K2726T RYR1_uc002oiu.2_Missense_Mutation_p.K2726T|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2726 5.|Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCAGAGAAAAAGGCCACAGTG 0.597000 EIF3K 27335 broad.mit.edu 37 19 39123298 39123298 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:39123298A>G uc002oiz.1 + 6 666 c.479A>G c.(478-480)GAG>GGG p.E160G EIF3K_uc010xuh.1_Missense_Mutation_p.E160G|EIF3K_uc010xui.1_Missense_Mutation_p.E73G NM_013234 NP_037366 Q9UBQ5 EIF3K_HUMAN eukaryotic translation initiation factor 3, 160 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex|nucleus protein binding|ribosome binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTGCTGGCCGAGATGCTCGGG 0.602000 LRFN1 57622 broad.mit.edu 37 19 39805078 39805078 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:39805078A>C uc002okw.2 - 1 899 c.899T>G c.(898-900)CTG>CGG p.L300R NM_020862 NP_065913 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III 300 Ig-like.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic density|postsynaptic membrane ovary(2) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CCGTGTGATCAGCGGGGGCTC 0.706000 ATP1A3 478 broad.mit.edu 37 19 42479813 42479813 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:42479813T>G uc002osg.2 - 16 2385 c.2231A>C c.(2230-2232)AAC>ACC p.N744T ATP1A3_uc010xwf.1_Missense_Mutation_p.N755T|ATP1A3_uc010xwg.1_Missense_Mutation_p.N714T|ATP1A3_uc010xwh.1_Missense_Mutation_p.N757T|ATP1A3_uc002osh.2_Missense_Mutation_p.N744T NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 744 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 GGAGGCAAAGTTGTCGTCCAG 0.632000 ATP1A3 478 broad.mit.edu 37 19 42480634 42480634 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:42480634G>A uc002osg.2 - 15 2182 c.2028C>T c.(2026-2028)ACC>ACT p.T676T ATP1A3_uc010xwf.1_Silent_p.T687T|ATP1A3_uc010xwg.1_Silent_p.T646T|ATP1A3_uc010xwh.1_Silent_p.T689T|ATP1A3_uc002osh.2_Silent_p.T676T NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 676 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 AGACGATCTCGGTGTGATTCT 0.557000 CEACAM8 1088 broad.mit.edu 37 19 43098046 43098046 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:43098046A>C uc002oud.2 - 2 173 c.71T>G c.(70-72)CTT>CGT p.L24R uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion 24 immune response anchored to membrane|extracellular space|integral to plasma membrane ovary(1) 1 Prostate(69;0.00899) GAAGGTGAAAAGTGAGGCTAG 0.448000 PSG8 440533 broad.mit.edu 37 19 43268119 43268119 + Missense_Mutation SNP C C T rs148091598 byFrequency TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:43268119C>T uc002ouo.2 - 2 477 c.379G>A c.(379-381)GGA>AGA p.G127R PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Missense_Mutation_p.G127R|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_Missense_Mutation_p.G2R|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Missense_Mutation_p.G127R|PSG8_uc002oum.3_Missense_Mutation_p.G127R|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.G127R NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 127 Ig-like V-type. extracellular region 0 Prostate(69;0.00899) TCATCACCTCCCATTATGATG 0.473000 XRCC1 7515 broad.mit.edu 37 19 44050801 44050801 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:44050801T>C uc002owt.2 - 12 1492 c.1372A>G c.(1372-1374)AAA>GAA p.K458E XRCC1_uc010xwp.1_Missense_Mutation_p.K427E NM_006297 NP_006288 P18887 XRCC1_HUMAN X-ray repair cross complementing protein 1 458 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1) 7 Prostate(69;0.0153) GAGGCTGCTTTGGTCTCTTCA 0.473000 Other_BER_factors ZNF224 7767 broad.mit.edu 37 19 44611504 44611504 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:44611504A>C uc002oyh.1 + 6 1493 c.1191A>C c.(1189-1191)GAA>GAC p.E397D uc002oyi.2_RNA NM_013398 NP_037530 Q9NZL3 ZN224_HUMAN zinc finger protein 224 397 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) ACAGTGGAGAAAAACCATTCA 0.423000 SLC8A2 6543 broad.mit.edu 37 19 47951490 47951490 + Splice_Site SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:47951490T>A uc002pgx.2 - 4 1619 c.1341_splice c.e4-1 p.S447_splice SLC8A2_uc010xyq.1_Splice_Site_p.S203_splice|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Splice_Site_p.S447_splice NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) GTGCCCTCGCTGCGGCGGGGT 0.632000 SLC8A2 6543 broad.mit.edu 37 19 47960262 47960262 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:47960262T>A uc002pgx.2 - 3 1543 c.1265A>T c.(1264-1266)GAG>GTG p.E422V SLC8A2_uc010xyq.1_Missense_Mutation_p.E178V|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.E422V NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 422 Calx-beta 1.|Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) GCTGTTGCCCTCGCCGCCCTG 0.667000 PLA2G4C 8605 broad.mit.edu 37 19 48608695 48608695 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:48608695T>G uc002phx.2 - 3 413 c.15A>C c.(13-15)GAA>GAC p.E5D PLA2G4C_uc002phw.2_5'UTR|PLA2G4C_uc010elr.2_Missense_Mutation_p.E5D|PLA2G4C_uc010xzd.1_Intron|PLA2G4C_uc002phy.3_Missense_Mutation_p.E5D NM_003706 NP_003697 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC isoform 1 precursor 5 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding ovary(1)|skin(1) 2 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) TTATGGAAACTTCAGAGCTTC 0.463000 MYBPC2 4606 broad.mit.edu 37 19 50951573 50951573 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:50951573A>C uc002psf.2 + 13 1449 c.1398A>C c.(1396-1398)AAA>AAC p.K466N NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 466 Ig-like C2-type 4. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CTGATGAGAAAGTGACGGGCA 0.562000 SYT3 84258 broad.mit.edu 37 19 51129247 51129247 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:51129247A>C uc002pst.2 - 5 1943 c.1309T>G c.(1309-1311)TTC>GTC p.F437V SYT3_uc002psv.2_Missense_Mutation_p.F437V|SYT3_uc010ycd.1_Missense_Mutation_p.F437V NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 437 C2 2.|Cytoplasmic (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) CAGAGTGAGAAGTTGAGCTCC 0.557000 SYT3 84258 broad.mit.edu 37 19 51140563 51140563 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:51140563A>C uc002pst.2 - 1 740 c.106T>G c.(106-108)TTC>GTC p.F36V SYT3_uc002psv.2_Missense_Mutation_p.F36V|SYT3_uc010ycd.1_Missense_Mutation_p.F36V NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 36 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) CGGTCATTGAACTCCTGGCAC 0.632000 KLK3 354 broad.mit.edu 37 19 51361465 51361465 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:51361465T>C uc002pts.1 + 3 428 c.387T>C c.(385-387)CCT>CCC p.P129P KLK3_uc010ycj.1_Intron|KLK3_uc002ptr.1_Silent_p.P86P|KLK3_uc010eof.1_RNA NM_001030047 NP_001025218 P07288 KLK3_HUMAN prostate specific antigen isoform 3 129 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) TGTCAGAGCCTGCCGAGCTCA 0.617000 KLK10 5655 broad.mit.edu 37 19 51520422 51520422 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:51520422G>A uc002puy.2 - 3 294 c.213C>T c.(211-213)TGC>TGT p.C71C KLK10_uc002puz.2_Silent_p.C71C|KLK10_uc002pva.2_Silent_p.C71C NM_145888 NP_665895 O43240 KLK10_HUMAN kallikrein-related peptidase 10 preproprotein 71 Peptidase S1. cell cycle|proteolysis extracellular region serine-type endopeptidase activity lung(2) 2 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) GGACACCCGCGCAGTGGAACG 0.672000 OREG0025646 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CD33 945 broad.mit.edu 37 19 51742771 51742771 + Splice_Site SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:51742771A>G uc002pwa.2 + 7 965 c.925_splice c.e7-2 p.K309_splice CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Splice_Site_p.K182_splice|CD33_uc010eou.1_RNA NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CCTCTCCATAAGAAACACCAG 0.502000 ZNF480 147657 broad.mit.edu 37 19 52825169 52825169 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:52825169A>T uc010ydl.1 + 5 736 c.666A>T c.(664-666)CAA>CAT p.Q222H ZNF480_uc002pyv.2_Missense_Mutation_p.Q145H|ZNF480_uc010ydm.1_Missense_Mutation_p.Q179H|ZNF480_uc010epn.2_Missense_Mutation_p.Q53H|uc002pyw.1_Intron NM_144684 NP_653285 Q8WV37 ZN480_HUMAN zinc finger protein 480 222 C2H2-type 1; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) CTAAACATCAAGTAATCCATA 0.373000 ZNF816A 125893 broad.mit.edu 37 19 53454176 53454176 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:53454176A>C uc002qal.1 - 5 1153 c.852T>G c.(850-852)ACT>ACG p.T284T ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Silent_p.T268T NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 284 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) TACACTTGTAAGTTTTCTCAC 0.373000 BIRC8 112401 broad.mit.edu 37 19 53793027 53793027 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:53793027A>C uc002qbk.2 - 1 1849 c.601T>G c.(601-603)TTT>GTT p.F201V NM_033341 NP_203127 Q96P09 BIRC8_HUMAN baculoviral IAP repeat-containing 8 201 RING-type. apoptosis zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(134;0.00304) CAAGGAATAAAAACAACAGCG 0.443000 ZNF331 55422 broad.mit.edu 37 19 54079977 54079977 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:54079977A>C uc002qbx.1 + 7 1597 c.163A>C c.(163-165)AGT>CGT p.S55R ZNF331_uc002qby.1_Missense_Mutation_p.S55R|ZNF331_uc002qbz.1_Missense_Mutation_p.S55R|ZNF331_uc002qca.1_Missense_Mutation_p.S55R|ZNF331_uc010eqr.1_Missense_Mutation_p.S55R|ZNF331_uc002qcb.1_Missense_Mutation_p.S55R|ZNF331_uc002qcc.1_Missense_Mutation_p.S55R|ZNF331_uc002qcd.1_Missense_Mutation_p.S55R NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN zinc finger protein 331 55 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1) 6 GBM - Glioblastoma multiforme(134;0.00555) TGAAAATAAGAGTTTACCTAC 0.358000 T ? follicular thyroid adenoma LILRA5 353514 broad.mit.edu 37 19 54823827 54823827 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:54823827A>G uc002qfe.2 - 2 188 c.68T>C c.(67-69)CTC>CCC p.L23P LILRA5_uc002qff.2_Missense_Mutation_p.L23P|LILRA5_uc010yev.1_Missense_Mutation_p.L23P|LILRA5_uc010yew.1_Missense_Mutation_p.L23P|LILRA5_uc002qfh.1_Missense_Mutation_p.L23P|LILRA5_uc002qfg.1_Missense_Mutation_p.L23P NM_021250 NP_067073 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor subfamily 23 innate immune response extracellular region|integral to membrane receptor activity upper_aerodigestive_tract(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAGAACCATGAGGGCAGGGCT 0.617000 LENG8 114823 broad.mit.edu 37 19 54969734 54969734 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:54969734C>T uc002qfv.1 + 14 2307 c.2163C>T c.(2161-2163)CTC>CTT p.L721L LENG8_uc002qfw.2_Intron Q96PV6 LENG8_HUMAN RecName: Full=Leukocyte receptor cluster member 8; 721 protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) TGCCTTTGCTCTTCCCATCCT 0.617000 NCR1 9437 broad.mit.edu 37 19 55421419 55421419 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:55421419T>G uc002qib.2 + 5 714 c.676T>G c.(676-678)TTT>GTT p.F226V NCR1_uc002qic.2_Missense_Mutation_p.F226V|NCR1_uc002qie.2_Missense_Mutation_p.F226V|NCR1_uc002qid.2_Missense_Mutation_p.F131V|NCR1_uc002qif.2_Missense_Mutation_p.F131V|NCR1_uc010esj.2_Missense_Mutation_p.F119V NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 226 Extracellular (Potential). cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) AGACCCCACCTTTCCTGGTGA 0.448000 NLRP7 199713 broad.mit.edu 37 19 55451541 55451541 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:55451541T>C uc002qih.3 - 4 722 c.646A>G c.(646-648)AGC>GGC p.S216G NLRP7_uc002qig.3_Missense_Mutation_p.S216G|NLRP7_uc002qii.3_Missense_Mutation_p.S216G|NLRP7_uc010esk.2_Missense_Mutation_p.S216G|NLRP7_uc010esl.2_Missense_Mutation_p.S244G NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 216 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CCCATGCGGCTGAGCTCCTTG 0.552000 SYT5 6861 broad.mit.edu 37 19 55686273 55686273 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:55686273T>G uc002qjm.1 - 6 1863 c.803A>C c.(802-804)AAG>ACG p.K268T SYT5_uc002qjp.2_Missense_Mutation_p.K264T|SYT5_uc002qjn.1_Missense_Mutation_p.K268T|SYT5_uc002qjo.1_Missense_Mutation_p.K267T NM_003180 NP_003171 O00445 SYT5_HUMAN synaptotagmin V 268 Cytoplasmic (Potential).|C2 2. energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) TACGTCCATCTTCTTCAGGTT 0.582000 BRSK1 84446 broad.mit.edu 37 19 55800909 55800909 + Nonsense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:55800909A>T uc002qkg.2 + 4 656 c.379A>T c.(379-381)AGA>TGA p.R127* BRSK1_uc002qkf.2_Nonsense_Mutation_p.R143* NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 127 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) AAAGAAGGGGAGACTGACGCC 0.582000 ZNF628 89887 broad.mit.edu 37 19 55993985 55993985 + Missense_Mutation SNP C C G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:55993985C>G uc002qld.2 + 3 1978 c.1413C>G c.(1411-1413)GAC>GAG p.D471E NAT14_uc002qle.1_5'Flank NM_033113 NP_149104 Q5EBL2 ZN628_HUMAN zinc finger protein 628 471 C2H2-type 10. nucleus DNA binding|zinc ion binding 0 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) ACCTGCGGGACCACACGGGCG 0.711000 NLRP9 338321 broad.mit.edu 37 19 56249468 56249468 + Missense_Mutation SNP C C G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:56249468C>G uc002qly.2 - 1 301 c.273G>C c.(271-273)GAG>GAC p.E91D NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 91 DAPIN. cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TACTTCTCATCTCTTCCTGAG 0.498000 NLRP9 338321 broad.mit.edu 37 19 56249481 56249481 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:56249481T>G uc002qly.2 - 1 288 c.260A>C c.(259-261)AAG>ACG p.K87T NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 87 DAPIN. cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TTCCTGAGCCTTTGTCCAGAG 0.493000 ZNF471 57573 broad.mit.edu 37 19 57036399 57036399 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:57036399A>G uc002qnh.2 + 5 1096 c.963A>G c.(961-963)AAA>AAG p.K321K NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 321 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) ATGAATGTAAAGAATGTGGCA 0.438000 ZNF264 9422 broad.mit.edu 37 19 57723710 57723710 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:57723710G>A uc002qob.2 + 4 1658 c.1245G>A c.(1243-1245)AAG>AAA p.K415K NM_003417 NP_003408 O43296 ZN264_HUMAN zinc finger protein 264 415 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) CCTACCTCAAGAGGCACCAGC 0.532000 ZNF548 147694 broad.mit.edu 37 19 57909914 57909914 + Nonsense_Mutation SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:57909914G>T uc002qom.2 + 3 509 c.259G>T c.(259-261)GAG>TAG p.E87* ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Nonsense_Mutation_p.E90* NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCACCCTAGTGAGACATGTGG 0.483000 ZNF772 400720 broad.mit.edu 37 19 57985254 57985254 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:57985254T>C uc002qot.2 - 5 1119 c.858A>G c.(856-858)AGA>AGG p.R286R ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Silent_p.R245R|ZNF772_uc010ygz.1_Silent_p.R174R|ZNF772_uc010yha.1_Silent_p.R232R|ZNF772_uc002qou.2_Silent_p.R174R NM_001024596 NP_001019767 Q68DY9 ZN772_HUMAN zinc finger protein 772 isoform 1 286 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174) CAGTGTGGACTCTCTGGTGTT 0.488000 ZNF550 162972 broad.mit.edu 37 19 58059222 58059222 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:58059222T>G uc002qpe.1 - 2 267 c.267A>C c.(265-267)GAA>GAC p.E89D ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA NM_001039654 NP_001034743 Q7Z398 ZN550_HUMAN zinc finger protein 550 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCAAAAGCCCTTCCTCATCCC 0.532000 ZNF550 162972 broad.mit.edu 37 19 58067709 58067709 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:58067709T>G uc002qpe.1 - 1 17 c.17A>C c.(16-18)AAG>ACG p.K6T ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_3'UTR|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA NM_001039654 NP_001034743 Q7Z398 ZN550_HUMAN zinc finger protein 550 15 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGCCACATCCTTGAAGGTCAC 0.527000 ZNF530 348327 broad.mit.edu 37 19 58117644 58117644 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:58117644A>G uc002qpk.2 + 3 971 c.751A>G c.(751-753)AGT>GGT p.S251G ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN zinc finger protein 530 251 C2H2-type 1. 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) CTTTAGTCAAAGTTCTGGCTT 0.408000 ZNF154 7710 broad.mit.edu 37 19 58213775 58213775 + Missense_Mutation SNP C C A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:58213775C>A uc010euf.2 - 3 782 c.542G>T c.(541-543)AGA>ATA p.R181I ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_RNA NM_001085384 NP_001078853 Q13106 ZN154_HUMAN zinc finger protein 154 181 C2H2-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AGTGTGAAGTCTCCAATGGTC 0.448000 ZSCAN18 65982 broad.mit.edu 37 19 58597553 58597553 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:58597553T>C uc002qri.2 - 6 1135 c.826A>G c.(826-828)AGC>GGC p.S276G ZSCAN18_uc002qrj.3_Missense_Mutation_p.S276G|ZSCAN18_uc010yhs.1_Missense_Mutation_p.S141G|ZSCAN18_uc002qrh.2_Missense_Mutation_p.S276G|ZSCAN18_uc010yht.1_Missense_Mutation_p.S332G|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 276 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGGAGGCTGCTTCCTTGTGGA 0.587000 TRIM28 10155 broad.mit.edu 37 19 59057202 59057202 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr19:59057202G>A uc002qtg.1 + 3 814 c.525G>A c.(523-525)GAG>GAA p.E175E TRIM28_uc010eut.1_Intron|TRIM28_uc002qth.1_5'Flank NM_005762 NP_005753 Q13263 TIF1B_HUMAN tripartite motif-containing 28 protein 175 RBCC domain.|B box-type 1; atypical. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CTCTGTGTGAGACCTGTGTAG 0.582000 ASAP2 8853 broad.mit.edu 37 2 9498920 9498920 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:9498920A>T uc002qzh.2 + 15 1703 c.1363A>T c.(1363-1365)ACC>TCC p.T455S ASAP2_uc002qzi.2_Missense_Mutation_p.T455S NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 455 Arf-GAP. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 GGGCATCCTGACCTGCATCGA 0.512000 RRM2 6241 broad.mit.edu 37 2 10269377 10269377 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:10269377A>C uc002rah.2 + 10 1225 c.1034A>C c.(1033-1035)AAC>ACC p.N345T NM_001034 NP_001025 P31350 RIR2_HUMAN ribonucleotide reductase M2 polypeptide isoform 345 deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol ribonucleoside-diphosphate reductase activity|transition metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221) AGAGTAGAGAACCCATTTGAC 0.388000 NBAS 51594 broad.mit.edu 37 2 15607836 15607836 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:15607836T>A uc002rcc.1 - 18 1996 c.1970A>T c.(1969-1971)AAG>ATG p.K657M NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 657 ovary(2)|liver(1)|skin(1) 4 CTTGAGCTCCTTTTCCTTTTT 0.343000 PUM2 23369 broad.mit.edu 37 2 20508339 20508339 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:20508339A>T uc002rds.1 - 5 548 c.525T>A c.(523-525)ACT>ACA p.T175T PUM2_uc002rdt.1_Silent_p.T175T|PUM2_uc002rdr.2_Silent_p.T114T|PUM2_uc010yjy.1_Silent_p.T175T|PUM2_uc002rdu.1_Silent_p.T175T|PUM2_uc010yjz.1_Silent_p.T114T NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 175 Interaction with SNAPIN. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GACTTCCAGGAGTACGACTAC 0.398000 APOB 338 broad.mit.edu 37 2 21228452 21228452 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:21228452A>C uc002red.2 - 26 11416 c.11288T>G c.(11287-11289)CTT>CGT p.L3763R NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3763 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCTGAAGTCAAGTTTGCACGA 0.403000 APOB 338 broad.mit.edu 37 2 21235329 21235329 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:21235329A>C uc002red.2 - 26 4539 c.4411T>G c.(4411-4413)TTG>GTG p.L1471V NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1471 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGGAGTCCAAATGAACTGAA 0.413000 ATAD2B 54454 broad.mit.edu 37 2 24118816 24118816 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:24118816T>G uc002rek.3 - 2 535 c.241A>C c.(241-243)AGT>CGT p.S81R ATAD2B_uc010yki.1_RNA|ATAD2B_uc010exx.1_Missense_Mutation_p.S81R NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 81 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGCTATCACTTAAACTACCA 0.328000 C2orf39 92749 broad.mit.edu 37 2 26647191 26647191 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:26647191A>T uc002rhg.2 + 4 483 c.409A>T c.(409-411)ATC>TTC p.I137F C2orf39_uc010eym.1_Intron NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 137 Potential. 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATTCGATGAAATCACCTCAAA 0.488000 OTOF 9381 broad.mit.edu 37 2 26697508 26697508 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:26697508T>G uc002rhk.2 - 26 3288 c.3161A>C c.(3160-3162)AAA>ACA p.K1054T OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.K307T|OTOF_uc002rhi.2_Missense_Mutation_p.K364T|OTOF_uc002rhj.2_Missense_Mutation_p.K307T NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1054 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) CACCAGGGGTTTGGCGAAGGT 0.527000 DPYSL5 56896 broad.mit.edu 37 2 27165557 27165557 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:27165557A>C uc002rhu.3 + 11 1537 c.1379A>C c.(1378-1380)AAG>ACG p.K460T DPYSL5_uc002rhv.3_Missense_Mutation_p.K460T NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 460 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCACCGGCAAGTTCTGTCCC 0.617000 OREG0014510 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C2orf16 84226 broad.mit.edu 37 2 27804228 27804228 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:27804228A>C uc002rkz.3 + 1 4840 c.4789A>C c.(4789-4791)AAC>CAC p.N1597H ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1597 1.|27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CTCTAGGAAAAACCATTCCAG 0.552000 C2orf71 388939 broad.mit.edu 37 2 29296021 29296021 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:29296021G>A uc002rmt.1 - 1 1107 c.1107C>T c.(1105-1107)ACC>ACT p.T369T NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 369 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 GGTCCCAGCTGGTTTGCTTGC 0.592000 C2orf71 388939 broad.mit.edu 37 2 29296170 29296170 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:29296170G>A uc002rmt.1 - 1 958 c.958C>T c.(958-960)CGC>TGC p.R320C NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 320 R -> C. response to stimulus|visual perception photoreceptor outer segment skin(1) 1 CTCAGGAGGCGTTCATCCACA 0.597000 EHD3 30845 broad.mit.edu 37 2 31483561 31483561 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:31483561A>C uc002rnu.2 + 4 1296 c.688A>C c.(688-690)ATG>CTG p.M230L EHD3_uc010ymt.1_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN EH-domain containing 3 230 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding skin(2) 2 Acute lymphoblastic leukemia(172;0.155) GCAGCAGCTGATGCGGGTGTA 0.572000 BIRC6 57448 broad.mit.edu 37 2 32828139 32828139 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:32828139A>C uc010ezu.2 + 71 14193 c.14059A>C c.(14059-14061)AGC>CGC p.S4687R NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4687 Ubiquitin-conjugating. anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TCAGACCTCAAGCTTTTTGCA 0.318000 SOS1 6654 broad.mit.edu 37 2 39251221 39251221 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:39251221T>A uc002rrk.3 - 9 1173 c.1132A>T c.(1132-1134)ACA>TCA p.T378S SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_5'UTR|SOS1_uc002rrl.2_Missense_Mutation_p.T110S NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 378 DH. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) AGCAAAGCTGTTATTGCTTGT 0.303000 Noonan_syndrome PLEKHH2 130271 broad.mit.edu 37 2 43991482 43991482 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:43991482T>G uc010yny.1 + 29 4357 c.4274T>G c.(4273-4275)CTT>CGT p.L1425R NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 1425 FERM. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GAGAAATTACTTTTTGCCATG 0.378000 PREPL 9581 broad.mit.edu 37 2 44571048 44571048 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:44571048A>C uc002ruf.2 - 4 487 c.452T>G c.(451-453)CTT>CGT p.L151R PREPL_uc002rug.2_Missense_Mutation_p.L151R|PREPL_uc002ruh.2_Missense_Mutation_p.L151R|PREPL_uc010fax.2_Missense_Mutation_p.L151R|PREPL_uc002rui.3_Missense_Mutation_p.L62R|PREPL_uc002ruj.1_Missense_Mutation_p.L62R|PREPL_uc002ruk.1_Missense_Mutation_p.L151R NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like isoform C 151 proteolysis cytosol serine-type endopeptidase activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GTCTAACTTAAGTTCCTCCAA 0.323000 SOCS5 9655 broad.mit.edu 37 2 46985924 46985924 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:46985924A>T uc002rvf.2 + 2 419 c.255A>T c.(253-255)GAA>GAT p.E85D SOCS5_uc010yoe.1_Missense_Mutation_p.E54D|SOCS5_uc002rvg.2_Missense_Mutation_p.E85D NM_014011 NP_054730 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 85 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth ovary(1)|lung(1)|central_nervous_system(1) 3 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GTGCCACAGAAATCCCTCAAA 0.403000 ACYP2 98 broad.mit.edu 37 2 54531856 54531856 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:54531856A>G uc002rxq.3 + 4 643 c.217A>G c.(217-219)AGT>GGT p.S73G NM_138448 NP_612457 P14621 ACYP2_HUMAN acylphosphatase 2 73 Acylphosphatase-like. phosphate metabolic process acylphosphatase activity 0 TGGAAGCCCTAGTTCTCGCAT 0.328000 MTIF2 4528 broad.mit.edu 37 2 55476576 55476576 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:55476576T>G uc002ryn.2 - 10 1673 c.936A>C c.(934-936)GAA>GAC p.E312D MTIF2_uc010yox.1_5'UTR|MTIF2_uc002ryo.2_Missense_Mutation_p.E312D NM_001005369 NP_001005369 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 312 G-domain. regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity ovary(1) 1 CTCCATAATCTTCACATACCA 0.438000 USP34 9736 broad.mit.edu 37 2 61508340 61508340 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:61508340T>G uc002sbe.2 - 38 5058 c.5036A>C c.(5035-5037)AAG>ACG p.K1679T USP34_uc002sbf.2_5'Flank NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 1679 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) CAGGGATAACTTATAGAGACC 0.393000 AFTPH 54812 broad.mit.edu 37 2 64778718 64778718 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:64778718T>G uc002sdc.2 + 1 142 c.110T>G c.(109-111)GTT>GGT p.V37G AFTPH_uc002scz.2_Missense_Mutation_p.V37G|AFTPH_uc002sda.2_Missense_Mutation_p.V37G|AFTPH_uc002sdb.2_Missense_Mutation_p.V37G NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 37 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 TTTTCAGAAGTTAGCCCTTCT 0.413000 ALMS1 7840 broad.mit.edu 37 2 73650099 73650099 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:73650099T>A uc002sje.1 + 5 875 c.764T>A c.(763-765)CTG>CAG p.L255Q ALMS1_uc002sjf.1_Missense_Mutation_p.L212Q NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 254 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TTTGCACCTCTGAGGTAGGAT 0.393000 HTRA2 27429 broad.mit.edu 37 2 74757775 74757775 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:74757775T>C uc002smi.1 + 2 1140 c.538T>C c.(538-540)TCG>CCG p.S180P AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.S180P|HTRA2_uc002smk.1_Missense_Mutation_p.S180P|HTRA2_uc002sml.1_Missense_Mutation_p.S180P|HTRA2_uc002smm.1_5'UTR|HTRA2_uc002smn.1_5'UTR|HTRA2_uc010ffl.2_5'UTR NM_013247 NP_037379 O43464 HTRA2_HUMAN HtrA serine peptidase 2 isoform 1 preproprotein 180 Serine protease. apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding ovary(1) 1 GGTCCCTATCTCGAACGGCTC 0.617000 SEMA4F 10505 broad.mit.edu 37 2 74902419 74902419 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:74902419T>A uc002sna.1 + 10 1391 c.1280T>A c.(1279-1281)CTG>CAG p.L427Q SEMA4F_uc010ffq.1_Missense_Mutation_p.L394Q|SEMA4F_uc010ffr.1_Missense_Mutation_p.L39Q|SEMA4F_uc002snb.1_Missense_Mutation_p.L39Q|SEMA4F_uc002snc.1_Missense_Mutation_p.L272Q NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 427 Sema.|Extracellular (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 CACCCCCTGCTGGTCACTACA 0.562000 OREG0014721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CNNM4 26504 broad.mit.edu 37 2 97474441 97474441 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:97474441T>G uc002swx.2 + 6 2190 c.2092T>G c.(2092-2094)TTC>GTC p.F698V CNNM4_uc010yuy.1_Missense_Mutation_p.F185V NM_020184 NP_064569 Q6P4Q7 CNNM4_HUMAN cyclin M4 698 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|ovary(1) 3 CATCTCTGACTTCAGCGTCCG 0.562000 VWA3B 200403 broad.mit.edu 37 2 98809455 98809455 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:98809455A>T uc002syo.2 + 11 1825 c.1561A>T c.(1561-1563)AGC>TGC p.S521C VWA3B_uc010yvh.1_Missense_Mutation_p.S371C|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.S40C|VWA3B_uc002sym.2_Missense_Mutation_p.S521C|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.S178C|VWA3B_uc002syp.1_5'UTR NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 521 VWFA. ovary(3)|large_intestine(2)|skin(1) 6 CTCAATGAAGAGCAAACTGGA 0.423000 TSGA10 80705 broad.mit.edu 37 2 99681472 99681472 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:99681472A>C uc002szg.3 - 14 1962 c.1334T>G c.(1333-1335)CTT>CGT p.L445R TSGA10_uc002szh.3_Missense_Mutation_p.L445R|TSGA10_uc002szi.3_Missense_Mutation_p.L445R|TSGA10_uc010fin.1_Missense_Mutation_p.L445R NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 445 spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 AGCAGTGATAAGTTCCAGTTT 0.383000 EIF5B 9669 broad.mit.edu 37 2 100015285 100015285 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:100015285A>C uc002tab.2 + 23 3652 c.3468A>C c.(3466-3468)GAA>GAC p.E1156D EIF5B_uc010yvq.1_Missense_Mutation_p.E138D NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 1156 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 AAGGACAAGAAGTTTGTGTAA 0.308000 AFF3 3899 broad.mit.edu 37 2 100217911 100217911 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:100217911A>C uc002tag.2 - 13 1593 c.1357T>G c.(1357-1359)TTC>GTC p.F453V AFF3_uc002taf.2_Missense_Mutation_p.F478V|AFF3_uc010fiq.1_Missense_Mutation_p.F453V|AFF3_uc010yvr.1_Missense_Mutation_p.F606V|AFF3_uc002tah.1_Missense_Mutation_p.F478V NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 453 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 GGGCTGGAGAAGTGGGGGGGC 0.577000 GCC2 9648 broad.mit.edu 37 2 109103051 109103051 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:109103051A>C uc002tec.2 + 16 4031 c.3877A>C c.(3877-3879)AGT>CGT p.S1293R GCC2_uc002ted.2_Missense_Mutation_p.S1192R NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 1293 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 GCGTACGCTAAGTGCATACCA 0.507000 GCC2 9648 broad.mit.edu 37 2 109116111 109116111 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:109116111T>C uc002tec.2 + 22 5039 c.4885T>C c.(4885-4887)TTG>CTG p.L1629L GCC2_uc002ted.2_Silent_p.L1528L NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 1629 Mediates interaction with RAB9A.|GRIP. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 GTTCATTTTCTTGAAACCAGG 0.423000 EDAR 10913 broad.mit.edu 37 2 109546637 109546637 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:109546637T>G uc002teq.3 - 3 544 c.113A>C c.(112-114)AAC>ACC p.N38T EDAR_uc010fjn.2_Missense_Mutation_p.N38T|EDAR_uc010yws.1_Missense_Mutation_p.N38T NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN ectodysplasin A receptor precursor 38 TNFR-Cys 1.|Extracellular (Potential). apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity skin(1) 1 CGTAGTCTGGTTGTAGTACTC 0.627000 CYP27C1 339761 broad.mit.edu 37 2 127956986 127956986 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:127956986T>G uc002tod.2 - 4 649 c.518A>C c.(517-519)AAC>ACC p.N173T NM_001001665 NP_001001665 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, 173 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) CTCAGTCACGTTGGCGTAGAT 0.582000 ERCC3 2071 broad.mit.edu 37 2 128050327 128050327 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:128050327T>C uc002toh.1 - 3 425 c.330A>G c.(328-330)CCA>CCG p.P110P ERCC3_uc002toe.1_5'Flank|ERCC3_uc002tof.1_Silent_p.P46P|ERCC3_uc002tog.1_Silent_p.P46P|ERCC3_uc010flx.1_Intron|ERCC3_uc010yzh.1_RNA|ERCC3_uc010fly.2_Intron NM_000122 NP_000113 P19447 ERCC3_HUMAN excision repair cross-complementing rodent 110 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding ovary(2)|lung(2)|breast(2)|kidney(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) GCACATGGGTTGGTCGGCACA 0.512000 Mis|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum SAP130 79595 broad.mit.edu 37 2 128707874 128707874 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:128707874T>G uc002tpp.2 - 16 2636 c.2504A>C c.(2503-2505)AAG>ACG p.K835T SAP130_uc002tpn.2_Missense_Mutation_p.K595T|SAP130_uc002tpo.2_Missense_Mutation_p.K615T|SAP130_uc010fmd.2_Missense_Mutation_p.K870T NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 835 Pro-rich. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CTTTCGAGGCTTTTTCCTTGG 0.498000 IMP4 92856 broad.mit.edu 37 2 131103502 131103502 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:131103502A>T uc002tra.1 + 6 607 c.590A>T c.(589-591)AAG>ATG p.K197M NM_033416 NP_219484 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, 197 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2) 2 Colorectal(110;0.1) CGCCTGGGCAAGCGGGTGAGT 0.632000 LCT 3938 broad.mit.edu 37 2 136561695 136561695 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:136561695T>A uc002tuu.1 - 11 4479 c.4468A>T c.(4468-4470)ACC>TCC p.T1490S NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1490 Extracellular (Potential).|4.|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) TGGTAAATGGTCACCTGGGAA 0.517000 NEB 4703 broad.mit.edu 37 2 152423760 152423760 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:152423760A>C uc010fnx.2 - 86 13166 c.12975T>G c.(12973-12975)AAT>AAG p.N4325K NEB_uc002txr.2_Missense_Mutation_p.N748K NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 4325 Nebulin 118. 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) GGTGCAAGTAATTACGATAAT 0.423000 NEB 4703 broad.mit.edu 37 2 152520300 152520300 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:152520300T>G uc010fnx.2 - 45 5716 c.5525A>C c.(5524-5526)AAG>ACG p.K1842T NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1842 Nebulin 48. 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) GTGCACCAGCTTGGGGTCATC 0.488000 SCN3A 6328 broad.mit.edu 37 2 166011114 166011114 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:166011114A>T uc002ucx.2 - 11 1720 c.1228T>A c.(1228-1230)TTG>ATG p.L410M SCN3A_uc002ucy.2_Missense_Mutation_p.L410M|SCN3A_uc002ucz.2_Missense_Mutation_p.L410M|SCN3A_uc002uda.1_Missense_Mutation_p.L279M|SCN3A_uc002udb.1_Missense_Mutation_p.L279M NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 410 Helical; Name=S6 of repeat I; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) AATGAGCCCAAGAAAATGACC 0.428000 SCN2A 6326 broad.mit.edu 37 2 166210929 166210929 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:166210929A>C uc002udc.2 + 17 3437 c.3147A>C c.(3145-3147)AAA>AAC p.K1049N SCN2A_uc002udd.2_Missense_Mutation_p.K1049N|SCN2A_uc002ude.2_Missense_Mutation_p.K1049N NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1049 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) ATAATAAAAAAGACAGCTGTA 0.348000 SCN2A 6326 broad.mit.edu 37 2 166237231 166237231 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:166237231A>G uc002udc.2 + 24 4728 c.4438A>G c.(4438-4440)AAA>GAA p.K1480E SCN2A_uc002udd.2_Missense_Mutation_p.K1480E|SCN2A_uc002ude.2_Missense_Mutation_p.K1480E NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1480 III. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) CAACCAACAGAAAAAGAAGAT 0.289000 TTC21B 79809 broad.mit.edu 37 2 166797624 166797624 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:166797624A>C uc002udk.2 - 6 756 c.623T>G c.(622-624)TTT>TGT p.F208C TTC21B_uc002udl.2_Missense_Mutation_p.F208C|uc002udm.1_Intron NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 208 TPR 3. cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 GAAGCTCGGAAAATTCACGAT 0.413000 SCN1A 6323 broad.mit.edu 37 2 166901752 166901752 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:166901752T>G uc010zcz.1 - 10 1481 c.1463A>C c.(1462-1464)AAG>ACG p.K488T SCN1A_uc002udo.3_Missense_Mutation_p.K357T|SCN1A_uc010fpk.2_Missense_Mutation_p.K357T NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 488 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGAACTCAACTTAGAGGCTTC 0.473000 XIRP2 129446 broad.mit.edu 37 2 168104634 168104634 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:168104634T>G uc002udx.2 + 8 6750 c.6732T>G c.(6730-6732)ACT>ACG p.T2244T XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T2069T|XIRP2_uc010fpq.2_Silent_p.T2022T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2069 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGCGGGAGACTGATGTTCACT 0.378000 B3GALT1 8708 broad.mit.edu 37 2 168725911 168725911 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:168725911A>C uc002udz.1 + 2 713 c.362A>C c.(361-363)AAT>ACT p.N121T NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 121 Lumenal (Potential). lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 CTGGGCAAGAATGCTGATCCT 0.483000 FASTKD1 79675 broad.mit.edu 37 2 170387195 170387195 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:170387195A>C uc002uev.3 - 14 2732 c.2344T>G c.(2344-2346)TTG>GTG p.L782V FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.L725V NM_024622 NP_078898 Q53R41 FAKD1_HUMAN FAST kinase domains 1 782 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(4) 4 TTTGAATCCAAAAATTCCAAA 0.303000 AGPS 8540 broad.mit.edu 37 2 178386063 178386063 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:178386063T>C uc002ull.2 + 18 1811 c.1764T>C c.(1762-1764)ATT>ATC p.I588I AGPS_uc010zfb.1_Silent_p.I498I NM_003659 NP_003650 O00116 ADAS_HUMAN alkyldihydroxyacetone phosphate synthase 588 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) ACAGGGGAATTAGTGACCCAC 0.373000 OSBPL6 114880 broad.mit.edu 37 2 179257153 179257153 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:179257153A>C uc002ulx.2 + 23 2839 c.2461A>C c.(2461-2463)AAC>CAC p.N821H OSBPL6_uc002uly.2_Missense_Mutation_p.N846H|OSBPL6_uc010zfe.1_Missense_Mutation_p.N790H|OSBPL6_uc002ulz.2_Missense_Mutation_p.N785H|OSBPL6_uc002uma.2_Missense_Mutation_p.N825H NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 821 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CATGCCAACAAACTATGAGCT 0.463000 TTN 7273 broad.mit.edu 37 2 179449266 179449266 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:179449266A>G uc010zfg.1 - 260 57532 c.57308T>C c.(57307-57309)GTC>GCC p.V19103A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V12798A|TTN_uc010zfi.1_Missense_Mutation_p.V12731A|TTN_uc010zfj.1_Missense_Mutation_p.V12606A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20030 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCCTTGTTGACTTTGGTGAC 0.408000 TTN 7273 broad.mit.edu 37 2 179455636 179455636 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:179455636C>T uc010zfg.1 - 253 53336 c.53112G>A c.(53110-53112)CCG>CCA p.P17704P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P11399P|TTN_uc010zfi.1_Silent_p.P11332P|TTN_uc010zfj.1_Silent_p.P11207P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18631 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGGAGGAGACGGAGGACTAA 0.458000 TTN 7273 broad.mit.edu 37 2 179528765 179528765 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:179528765T>C uc010zfk.1 - 14 1327 c.779A>G c.(778-780)AAG>AGG p.K260R TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; 11472 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R256_K260>K(1) ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GACTTCAGGCTTTTTAGGAGG 0.388000 TTN 7273 broad.mit.edu 37 2 179576069 179576069 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:179576069T>G uc010zfg.1 - 94 24386 c.24162A>C c.(24160-24162)AAA>AAC p.K8054N TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K4715N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8981 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGGTGGAAGTTTTTGCTCTG 0.338000 TTN 7273 broad.mit.edu 37 2 179577516 179577516 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:179577516A>C uc010zfg.1 - 91 23728 c.23504T>G c.(23503-23505)TTC>TGC p.F7835C TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F4496C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8762 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCTACATCGAACAACTCCAG 0.423000 TTN 7273 broad.mit.edu 37 2 179577970 179577970 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:179577970T>C uc010zfg.1 - 90 23383 c.23159A>G c.(23158-23160)AAT>AGT p.N7720S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N4381S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8647 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTGATCTCATTTCCTTCATG 0.433000 TTN 7273 broad.mit.edu 37 2 179595420 179595420 + Missense_Mutation SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:179595420G>T uc010zfg.1 - 58 14332 c.14108C>A c.(14107-14109)CCC>CAC p.P4703H TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P1364H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5630 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATGCTTATGGGATGTGACCC 0.378000 TTN 7273 broad.mit.edu 37 2 179610355 179610355 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:179610355T>G uc002unb.2 - 46 16996 c.16772A>C c.(16771-16773)AAA>ACA p.K5591T TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATTCCTGATTTGTTTGTAGC 0.383000 TTN 7273 broad.mit.edu 37 2 179639750 179639750 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:179639750A>T uc010zfg.1 - 29 6912 c.6688T>A c.(6688-6690)TTC>ATC p.F2230I TTN_uc010zfh.1_Missense_Mutation_p.F2184I|TTN_uc010zfi.1_Missense_Mutation_p.F2184I|TTN_uc010zfj.1_Missense_Mutation_p.F2184I|TTN_uc002unb.2_Missense_Mutation_p.F2230I|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2230 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGGAGAGGAAGTGAACCTTT 0.388000 TTN 7273 broad.mit.edu 37 2 179641097 179641097 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:179641097T>G uc010zfg.1 - 28 5718 c.5494A>C c.(5494-5496)ACA>CCA p.T1832P TTN_uc010zfh.1_Missense_Mutation_p.T1786P|TTN_uc010zfi.1_Missense_Mutation_p.T1786P|TTN_uc010zfj.1_Missense_Mutation_p.T1786P|TTN_uc002unb.2_Missense_Mutation_p.T1832P|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1832 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGATCTGTTGTTACACCTGTA 0.458000 CWC22 57703 broad.mit.edu 37 2 180835492 180835492 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:180835492T>G uc010frh.1 - 10 1332 c.1032A>C c.(1030-1032)AAA>AAC p.K344N CWC22_uc002unp.2_Missense_Mutation_p.K344N NM_020943 NP_065994 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog 344 MIF4G. catalytic step 2 spliceosome protein binding|RNA binding 0 TGAATCCATCTTTCCGTACAG 0.383000 ZSWIM2 151112 broad.mit.edu 37 2 187693238 187693238 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:187693238T>G uc002upu.1 - 9 1415 c.1375A>C c.(1375-1377)AAA>CAA p.K459Q NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 459 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TAGGCATCTTTTGGGCTTTGA 0.284000 ANKAR 150709 broad.mit.edu 37 2 190554291 190554291 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:190554291A>C uc002uqw.1 + 2 427 c.427A>C c.(427-429)ATC>CTC p.I143L ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqv.1_Missense_Mutation_p.I214L NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 214 integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) CTTTAATGAAATCTATGATGA 0.303000 ANKAR 150709 broad.mit.edu 37 2 190554626 190554626 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:190554626T>G uc002uqw.1 + 2 762 c.762T>G c.(760-762)TTT>TTG p.F254L ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqv.1_Missense_Mutation_p.F325L NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 325 Helical; (Potential). integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TGATTCCATTTCTACTGAGTT 0.274000 ANKAR 150709 broad.mit.edu 37 2 190585496 190585496 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:190585496T>G uc002uqw.1 + 11 2405 c.2405T>G c.(2404-2406)TTT>TGT p.F802C ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 873 ARM 4. integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) CTTATCAGATTTCTGAGTTCT 0.343000 PMS1 5378 broad.mit.edu 37 2 190719033 190719033 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:190719033T>C uc002urh.3 + 9 1564 c.1035T>C c.(1033-1035)TCT>TCC p.S345S PMS1_uc010zga.1_Silent_p.S306S|PMS1_uc010zgb.1_Silent_p.S284S|PMS1_uc002urk.3_Silent_p.S306S|PMS1_uc002uri.3_Silent_p.S345S|PMS1_uc010zgc.1_Silent_p.S169S|PMS1_uc010zgd.1_Silent_p.S169S|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Silent_p.S306S|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Silent_p.S130S|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Silent_p.S13S NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 345 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) GTACAAATTCTTATGAAAATA 0.318000 Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR PMS1 5378 broad.mit.edu 37 2 190719376 190719376 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:190719376A>C uc002urh.3 + 9 1907 c.1378A>C c.(1378-1380)AGT>CGT p.S460R PMS1_uc010zga.1_Missense_Mutation_p.S421R|PMS1_uc010zgb.1_Missense_Mutation_p.S399R|PMS1_uc002urk.3_Missense_Mutation_p.S421R|PMS1_uc002uri.3_Missense_Mutation_p.S460R|PMS1_uc010zgc.1_Missense_Mutation_p.S284R|PMS1_uc010zgd.1_Missense_Mutation_p.S284R|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.S421R|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.S245R|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.S128R NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 460 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TTGTTTTATAAGTTCCGTTAA 0.358000 Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR SLC39A10 57181 broad.mit.edu 37 2 196545252 196545252 + Silent SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:196545252G>T uc002utg.3 + 2 700 c.486G>T c.(484-486)GTG>GTT p.V162V SLC39A10_uc002uth.3_Silent_p.V162V|SLC39A10_uc010zgp.1_Intron NM_001127257 NP_001120729 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), 162 His-rich. zinc ion transport integral to membrane metal ion transmembrane transporter activity pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.221) CAGTTGAAGTGTCTGTAAAAT 0.363000 PGAP1 80055 broad.mit.edu 37 2 197712683 197712683 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:197712683T>G uc002utw.2 - 21 2054 c.1940A>C c.(1939-1941)AAG>ACG p.K647T PGAP1_uc002utx.2_Missense_Mutation_p.K473T|PGAP1_uc002uty.1_3'UTR|PGAP1_uc010fsi.2_5'Flank NM_024989 NP_079265 Q75T13 PGAP1_HUMAN GPI deacylase 647 Helical; (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity ovary(3)|central_nervous_system(1) 4 CAACAGAAACTTAATGATAAT 0.274000 BOLL 66037 broad.mit.edu 37 2 198641795 198641795 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:198641795T>G uc002uus.2 - 4 574 c.264A>C c.(262-264)AAA>AAC p.K88N BOLL_uc002uur.2_Missense_Mutation_p.K94N|BOLL_uc002uut.2_Missense_Mutation_p.K100N|BOLL_uc010zha.1_Intron|BOLL_uc002uuu.1_Missense_Mutation_p.K94N NM_033030 NP_149019 Q8N9W6 BOLL_HUMAN boule isoform 2 88 RRM. cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity ovary(2) 2 CTTGTAAAATTTTTTGTGCAT 0.254000 TRAK2 66008 broad.mit.edu 37 2 202245793 202245793 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:202245793T>A uc002uyb.3 - 16 2664 c.2218A>T c.(2218-2220)AGC>TGC p.S740C NM_015049 NP_055864 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 740 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding 0 TTGGCCAAGCTCATGGTGCTA 0.512000 ABI2 10152 broad.mit.edu 37 2 204291994 204291994 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:204291994T>G uc002vaa.2 + 11 1696 c.1461T>G c.(1459-1461)GGT>GGG p.G487G ABI2_uc002uzz.2_Silent_p.G449G|ABI2_uc010zih.1_Silent_p.G135G|ABI2_uc010zii.1_Silent_p.G481G|ABI2_uc010zij.1_Silent_p.G364G|ABI2_uc002vab.2_Silent_p.G375G|ABI2_uc010zik.1_Silent_p.G212G|ABI2_uc010zil.1_Silent_p.G351G|ABI2_uc010zim.1_Silent_p.G300G|ABI2_uc002vac.2_Silent_p.G273G|ABI2_uc010zin.1_Silent_p.G164G NM_005759 NP_005750 Q9NYB9 ABI2_HUMAN abl interactor 2 487 SH3. actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation cytoskeleton|cytosol|filopodium|lamellipodium cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding 0 ATGACGATGGTTGGTATGAGG 0.418000 MDH1B 130752 broad.mit.edu 37 2 207621681 207621681 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:207621681T>A uc002vbs.2 - 4 409 c.354A>T c.(352-354)AAA>AAT p.K118N MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Missense_Mutation_p.K118N|MDH1B_uc010fuj.2_Missense_Mutation_p.K20N|MDH1B_uc002vbt.2_RNA NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 118 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity ovary(3)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) CCTCCTGCTCTTTTTCTATAT 0.438000 PIKFYVE 200576 broad.mit.edu 37 2 209179076 209179076 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:209179076G>A uc002vcz.2 + 14 1913 c.1755G>A c.(1753-1755)TTG>TTA p.L585L PIKFYVE_uc010fun.1_Silent_p.L266L|PIKFYVE_uc002vcy.1_Silent_p.L529L NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 585 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 TCACACCTTTGGGCTGGCATC 0.388000 SPAG16 79582 broad.mit.edu 37 2 214794832 214794832 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:214794832T>C uc002veq.2 + 12 1455 c.1363T>C c.(1363-1365)TCA>CCA p.S455P SPAG16_uc010fuz.1_Missense_Mutation_p.S306P|SPAG16_uc002ver.2_Missense_Mutation_p.S401P|SPAG16_uc010zjk.1_Missense_Mutation_p.S361P NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 455 WD 3. cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GGCTTCCTCCTCACTGGATAA 0.433000 TNS1 7145 broad.mit.edu 37 2 218712817 218712817 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:218712817T>C uc002vgt.2 - 17 2446 c.2048A>G c.(2047-2049)CAG>CGG p.Q683R TNS1_uc002vgr.2_Missense_Mutation_p.Q683R|TNS1_uc002vgs.2_Missense_Mutation_p.Q683R|TNS1_uc010zjv.1_Missense_Mutation_p.Q683R|TNS1_uc010fvj.1_Missense_Mutation_p.Q751R|TNS1_uc010fvk.1_Missense_Mutation_p.Q808R|TNS1_uc010fvi.1_Missense_Mutation_p.Q370R NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 683 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TGCCAATGGCTGAGGGCTGGG 0.512000 TNS1 7145 broad.mit.edu 37 2 218713280 218713280 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:218713280T>C uc002vgt.2 - 17 1983 c.1585A>G c.(1585-1587)AGT>GGT p.S529G TNS1_uc002vgr.2_Missense_Mutation_p.S529G|TNS1_uc002vgs.2_Missense_Mutation_p.S529G|TNS1_uc010zjv.1_Missense_Mutation_p.S529G|TNS1_uc010fvj.1_Missense_Mutation_p.S597G|TNS1_uc010fvk.1_Missense_Mutation_p.S654G|TNS1_uc010fvi.1_Missense_Mutation_p.S216G NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 529 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CCCCCCTCACTGGTGTTGGTG 0.602000 CXCR1 3577 broad.mit.edu 37 2 219029780 219029780 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:219029780A>C uc002vhc.2 - 2 274 c.155T>G c.(154-156)CTG>CGG p.L52R NM_000634 NP_000625 P25024 CXCR1_HUMAN interleukin 8 receptor alpha 52 Helical; Name=1; (Potential). dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity lung(2) 2 CAGCAGGCTCAGCAGGAACAC 0.542000 PLCD4 84812 broad.mit.edu 37 2 219483332 219483332 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:219483332A>C uc002vij.1 + 4 407 c.212A>C c.(211-213)AAT>ACT p.N71T PLCD4_uc010zkj.1_Missense_Mutation_p.N18T|PLCD4_uc002vik.1_5'Flank|PLCD4_uc010zkk.1_5'Flank NM_032726 NP_116115 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 71 PH. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3) 3 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) ACAATACGTAATGGCCATGAT 0.542000 GLB1L 79411 broad.mit.edu 37 2 220101987 220101987 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:220101987A>G uc002vkm.2 - 17 2011 c.1772T>C c.(1771-1773)TTC>TCC p.F591S GLB1L_uc002vkk.2_Missense_Mutation_p.F348S|GLB1L_uc010zkx.1_Missense_Mutation_p.F501S|GLB1L_uc002vkn.2_Missense_Mutation_p.F591S NM_024506 NP_078782 Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like precursor 591 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds 0 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAACAGCAGGAATCTTGGCAC 0.512000 EPHA4 2043 broad.mit.edu 37 2 222428958 222428958 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:222428958T>A uc002vmq.2 - 3 358 c.316A>T c.(316-318)AGG>TGG p.R106W EPHA4_uc002vmr.2_Missense_Mutation_p.R106W|EPHA4_uc010zlm.1_Missense_Mutation_p.R47W|EPHA4_uc010zln.1_Missense_Mutation_p.R106W NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 106 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) TTGCAGTCCCTCAAGGTGAAT 0.473000 SCG2 7857 broad.mit.edu 37 2 224463728 224463728 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:224463728T>G uc002vnm.2 - 2 406 c.273A>C c.(271-273)AAA>AAC p.K91N NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 91 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) CGCCATTTTCTTTTTGCTGAA 0.453000 SLC19A3 80704 broad.mit.edu 37 2 228560750 228560750 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:228560750G>A uc002vpi.2 - 4 1116 c.1027C>T c.(1027-1029)CTT>TTT p.L343F SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.L339F NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN solute carrier family 19, member 3 343 Helical; (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) TCTCCCAGAAGGTCCCAGTTG 0.463000 SPHKAP 80309 broad.mit.edu 37 2 228846499 228846499 + Nonsense_Mutation SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:228846499G>T uc002vpq.2 - 12 5084 c.5037C>A c.(5035-5037)TGC>TGA p.C1679* SPHKAP_uc002vpp.2_Nonsense_Mutation_p.C1650*|SPHKAP_uc010zlx.1_3'UTR NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1679 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CATGCATTTTGCAGTACTGGA 0.463000 SPHKAP 80309 broad.mit.edu 37 2 228881411 228881411 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:228881411A>C uc002vpq.2 - 7 4206 c.4159T>G c.(4159-4161)TTG>GTG p.L1387V SPHKAP_uc002vpp.2_Missense_Mutation_p.L1387V|SPHKAP_uc010zlx.1_Missense_Mutation_p.L1387V NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1387 cytoplasm protein binding p.L1387L(1) skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GTTTTGCTCAAAGATGACACT 0.478000 FBXO36 130888 broad.mit.edu 37 2 230861562 230861562 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:230861562T>C uc002vqa.2 + 3 324 c.301T>C c.(301-303)TTG>CTG p.L101L FBXO36_uc002vqb.2_Silent_p.L70L|FBXO36_uc010fxi.1_Silent_p.L101L|FBXO36_uc002vqc.2_RNA NM_174899 NP_777559 Q8NEA4 FBX36_HUMAN F-box protein 36 101 F-box. ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008) CTCAGACGATTTGCTCCTGAC 0.368000 SLC16A14 151473 broad.mit.edu 37 2 230910769 230910769 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:230910769A>C uc002vqd.1 - 4 1436 c.1073T>G c.(1072-1074)ATT>AGT p.I358S FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.I358S|SLC16A14_uc002vqf.2_Missense_Mutation_p.I358S NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN solute carrier family 16 (monocarboxylic acid 358 Helical; (Potential). integral to membrane|plasma membrane symporter activity ovary(4)|skin(2) 6 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) TATTGCTATAATTGACGTCAG 0.438000 TRAF3IP1 26146 broad.mit.edu 37 2 239234574 239234574 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:239234574A>G uc002vye.2 + 3 436 c.317A>G c.(316-318)GAG>GGG p.E106G TRAF3IP1_uc002vyf.2_Missense_Mutation_p.E106G NM_015650 NP_056465 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting 106 Abolishes microtubules-binding when missing. cytoplasm|cytoskeleton protein binding ovary(1) 1 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) AGAACAAACGAGCTGCTCCAG 0.488000 SNED1 25992 broad.mit.edu 37 2 241992724 241992724 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:241992724T>G uc002wah.1 + 16 2238 c.2238T>G c.(2236-2238)AGT>AGG p.S746R NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN 6720455I24Rik homolog precursor 746 Sushi. cell-matrix adhesion extracellular region calcium ion binding breast(1)|central_nervous_system(1) 2 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) GTGTCTGGAGTGAGCCTCCCC 0.692000 ZNF343 79175 broad.mit.edu 37 20 2463832 2463832 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:2463832A>G uc002wge.1 - 6 2263 c.1775T>C c.(1774-1776)CTC>CCC p.L592P ZNF343_uc010gao.1_Missense_Mutation_p.L592P|ZNF343_uc002wgd.1_Missense_Mutation_p.L502P NM_024325 NP_077301 Q6P1L6 ZN343_HUMAN zinc finger protein 343 592 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 GTGTCTGATGAGATTTGACTT 0.512000 C20orf194 25943 broad.mit.edu 37 20 3278685 3278685 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:3278685A>C uc002wii.2 - 22 1971 c.1920T>G c.(1918-1920)TTT>TTG p.F640L C20orf194_uc002wij.3_Missense_Mutation_p.F379L|C20orf194_uc002wik.2_Missense_Mutation_p.F314L NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 640 0 CCTCTGAGTAAAATGCTTGGT 0.383000 SIGLEC1 6614 broad.mit.edu 37 20 3678698 3678698 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:3678698C>T uc002wja.2 - 8 1869 c.1869G>A c.(1867-1869)TTG>TTA p.L623L SIGLEC1_uc002wiz.3_Silent_p.L623L NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 623 Ig-like C2-type 6.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 CCACACGGCACAAAAGGAGGC 0.662000 PRND 23627 broad.mit.edu 37 20 4705711 4705711 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:4705711T>C uc002wkz.2 + 2 585 c.514T>C c.(514-516)TGG>CGG p.W172R NM_012409 NP_036541 Q9UKY0 PRND_HUMAN prion-like protein doppel preproprotein 172 protein homooligomerization anchored to membrane|plasma membrane 0 GGCTTTGATCTGGCTCACGGT 0.587000 TRMT6 51605 broad.mit.edu 37 20 5924813 5924813 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:5924813T>G uc002wmh.1 - 4 575 c.453A>C c.(451-453)AAA>AAC p.K151N TRMT6_uc010zra.1_5'UTR|TRMT6_uc010gbn.1_5'UTR|TRMT6_uc010gbo.1_RNA NM_015939 NP_057023 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 151 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity pancreas(1) 1 CTTACTTTTTTTTCTTCTTTT 0.204000 SPTLC3 55304 broad.mit.edu 37 20 13140768 13140768 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:13140768A>G uc002wod.1 + 11 1823 c.1534A>G c.(1534-1536)ATG>GTG p.M512V NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 512 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) TACCCGGGAGATGTTAGACAC 0.527000 PCSK2 5126 broad.mit.edu 37 20 17410104 17410104 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:17410104A>C uc002wpm.2 + 7 965 c.645A>C c.(643-645)GAA>GAC p.E215D PCSK2_uc002wpl.2_Missense_Mutation_p.E196D|PCSK2_uc010zrm.1_Missense_Mutation_p.E180D NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 215 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTGCAGGAGAAGTTTCTGCTG 0.473000 RRBP1 6238 broad.mit.edu 37 20 17607995 17607995 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:17607995A>G uc002wpv.1 - 12 2016 c.1662T>C c.(1660-1662)ACT>ACC p.T554T RRBP1_uc002wpu.2_Silent_p.T328T|RRBP1_uc002wpw.1_Silent_p.T554T|RRBP1_uc010gcl.1_Silent_p.T328T|RRBP1_uc010gcm.1_Intron NM_001042576 NP_001036041 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 987 Cytoplasmic (Potential). protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity ovary(1) 1 CAGCTTACCGAGTCTGCTGCT 0.632000 SEC23B 10483 broad.mit.edu 37 20 18492909 18492909 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:18492909T>C uc002wqz.1 + 3 705 c.262T>C c.(262-264)TGT>CGT p.C88R SEC23B_uc002wra.1_Missense_Mutation_p.C88R|SEC23B_uc002wrb.1_Missense_Mutation_p.C88R|SEC23B_uc010zsb.1_Missense_Mutation_p.C88R|SEC23B_uc002wrc.1_Missense_Mutation_p.C88R NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 88 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 CTGTAATTTCTGTTTTCAAAG 0.204000 C20orf79 140856 broad.mit.edu 37 20 18794785 18794785 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:18794785C>T uc002wrk.2 + 1 416 c.326C>T c.(325-327)ACA>ATA p.T109I uc002wrj.1_Intron NM_178483 NP_848578 Q9UJQ7 CT079_HUMAN hypothetical protein LOC140856 109 SCP2. sterol binding skin(3) 3 ACTGTCTTTACAATCCCGGAG 0.498000 CRNKL1 51340 broad.mit.edu 37 20 20028462 20028462 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:20028462T>G uc002wrs.2 - 6 1084 c.1052A>C c.(1051-1053)AAC>ACC p.N351T CRNKL1_uc002wrt.1_Missense_Mutation_p.N339T NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN crooked neck-like 1 protein 351 HAT 4. spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding ovary(2)|large_intestine(1) 3 CAGCTCAAAGTTGATGTAGGA 0.532000 RALGAPA2 57186 broad.mit.edu 37 20 20527423 20527423 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:20527423A>C uc002wrz.2 - 24 3353 c.3210T>G c.(3208-3210)GGT>GGG p.G1070G RALGAPA2_uc010gcx.2_Silent_p.G774G|RALGAPA2_uc010zsg.1_Silent_p.G518G NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1070 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 AGCCAGGAAAACCCAGGGAGA 0.463000 XRN2 22803 broad.mit.edu 37 20 21314715 21314715 + Splice_Site SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:21314715G>A uc002wsf.1 + 13 1221 c.1126_splice c.e13-1 p.G376_splice XRN2_uc002wsg.1_Splice_Site_p.G300_splice|XRN2_uc010zsk.1_Splice_Site_p.G322_splice NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 ATCACTTACAGGGTTACCTTA 0.328000 ACSS1 84532 broad.mit.edu 37 20 24989958 24989958 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:24989958T>A uc002wub.2 - 13 2716 c.1838A>T c.(1837-1839)AAG>ATG p.K613M ACSS1_uc002wuc.2_Missense_Mutation_p.K611M|ACSS1_uc010gdc.2_Missense_Mutation_p.K408M|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.K530M NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 613 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) CACCATGGACTTGAGCTCCTG 0.512000 NINL 22981 broad.mit.edu 37 20 25478915 25478915 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:25478915A>G uc002wux.1 - 9 1174 c.1100T>C c.(1099-1101)CTC>CCC p.L367P NINL_uc010gdn.1_Missense_Mutation_p.L367P|NINL_uc010gdo.1_Missense_Mutation_p.L150P|NINL_uc010ztf.1_Missense_Mutation_p.L383P NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 367 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CACTGTCATGAGCTCGTTGTC 0.617000 NINL 22981 broad.mit.edu 37 20 25478973 25478973 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:25478973A>T uc002wux.1 - 9 1116 c.1042T>A c.(1042-1044)TTC>ATC p.F348I NINL_uc010gdn.1_Missense_Mutation_p.F348I|NINL_uc010gdo.1_Missense_Mutation_p.F131I|NINL_uc010ztf.1_Missense_Mutation_p.F364I NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 348 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 TCCACGCTGAAGTCCAGGCTC 0.617000 DEFB124 245937 broad.mit.edu 37 20 30053417 30053417 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:30053417A>C uc002wvz.1 - 2 108 c.108T>G c.(106-108)ACT>ACG p.T36T NM_001037500 NP_001032589 Q8NES8 DB124_HUMAN beta-defensin 124 precursor 36 defense response to bacterium extracellular region 0 Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TTGTGCAGTAAGTTTGGCAGG 0.527000 ASXL1 171023 broad.mit.edu 37 20 31022897 31022897 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:31022897T>G uc002wxs.2 + 12 2808 c.2382T>G c.(2380-2382)ACT>ACG p.T794T ASXL1_uc010geb.2_Silent_p.T685T NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 794 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 CTGGCACCACTTCCTGGGAAA 0.507000 F|N|Mis MDS|CMML BPIL3 128859 broad.mit.edu 37 20 31627238 31627238 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:31627238A>G uc010zuc.1 + 10 986 c.986A>G c.(985-987)AAG>AGG p.K329R BPIL3_uc010zud.1_Missense_Mutation_p.K268R NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN bactericidal/permeability-increasing 329 extracellular region lipid binding ovary(1)|pancreas(1) 2 AAGACAGGCAAGAGCCTGCTG 0.532000 C20orf186 149954 broad.mit.edu 37 20 31671658 31671658 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:31671658A>C uc010zue.1 + 3 670 c.655A>C c.(655-657)AGC>CGC p.S219R NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 219 Gly-rich. cytoplasm|extracellular region lipid binding 0 TGGCATCCTCAGCACTGTGCA 0.632000 PLUNC 51297 broad.mit.edu 37 20 31825526 31825526 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:31825526A>C uc002wyv.2 + 2 79 c.9A>C c.(7-9)CAA>CAC p.Q3H PLUNC_uc002wyt.3_Missense_Mutation_p.Q3H|PLUNC_uc002wyu.3_Missense_Mutation_p.Q3H NM_130852 NP_570913 Q9NP55 PLUNC_HUMAN palate, lung and nasal epithelium associated 3 innate immune response extracellular region lipid binding 0 AGATGTTTCAAACTGGGGGCC 0.547000 PLUNC 51297 broad.mit.edu 37 20 31829261 31829261 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:31829261T>G uc002wyv.2 + 6 722 c.652T>G c.(652-654)TTG>GTG p.L218V PLUNC_uc002wyt.3_Missense_Mutation_p.L218V|PLUNC_uc002wyu.3_Missense_Mutation_p.L218V NM_130852 NP_570913 Q9NP55 PLUNC_HUMAN palate, lung and nasal epithelium associated 218 innate immune response extracellular region lipid binding 0 CCTGCCTGAGTTGGTTCAGGG 0.517000 MMP24 10893 broad.mit.edu 37 20 33859460 33859460 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:33859460A>C uc002xbu.2 + 8 1425 c.1422A>C c.(1420-1422)GAA>GAC p.E474D EDEM2_uc010zuv.1_Intron NM_006690 NP_006681 Q9Y5R2 MMP24_HUMAN matrix metalloproteinase 24 preproprotein 474 Extracellular (Potential). proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00252) TGCCCCGTGAAGGCATTGACA 0.617000 KIAA0406 9675 broad.mit.edu 37 20 36625208 36625208 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:36625208T>C uc002xhl.2 - 7 3150 c.2941A>G c.(2941-2943)AAG>GAG p.K981E KIAA0406_uc002xhm.2_Missense_Mutation_p.K981E NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 981 binding 0 Myeloproliferative disorder(115;0.00874) AGCTGCAACTTGAAGGCCAGC 0.592000 KIAA1755 85449 broad.mit.edu 37 20 36848101 36848101 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:36848101A>C uc002xhy.1 - 11 2759 c.2487T>G c.(2485-2487)GCT>GCG p.A829A KIAA1755_uc002xhv.1_5'Flank|KIAA1755_uc002xhw.1_5'Flank|KIAA1755_uc002xhx.1_Silent_p.A107A NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 829 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) GGCTGTTGGAAGCGGTGACCA 0.632000 BPI 671 broad.mit.edu 37 20 36936031 36936031 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:36936031T>A uc002xib.2 + 2 267 c.205T>A c.(205-207)TCA>ACA p.S69T NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 69 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) TCCTGACTACTCAGACAGCTT 0.527000 PPP1R16B 26051 broad.mit.edu 37 20 37464672 37464672 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:37464672A>C uc002xje.2 + 2 293 c.104A>C c.(103-105)AAG>ACG p.K35T PPP1R16B_uc010ggc.2_Missense_Mutation_p.K35T NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 35 Potential. regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CAGCAGCTGAAGAAATGGGCA 0.667000 MAFB 9935 broad.mit.edu 37 20 39316595 39316595 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:39316595T>C uc002xji.2 - 1 1282 c.896A>G c.(895-897)GAG>GGG p.E299G NM_005461 NP_005452 Q9Y5Q3 MAFB_HUMAN transcription factor MAFB 299 negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 Myeloproliferative disorder(115;0.00878) GGCGAGTTTCTCGCACTTGAC 0.562000 T IGH@ MM L3MBTL 26013 broad.mit.edu 37 20 42161533 42161533 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:42161533T>G uc010zwh.1 + 12 1385 c.1339T>G c.(1339-1341)TTT>GTT p.F447V L3MBTL_uc002xkl.2_Missense_Mutation_p.F379V|L3MBTL_uc002xkm.2_Missense_Mutation_p.F379V|L3MBTL_uc010ggl.2_Missense_Mutation_p.F379V|L3MBTL_uc002xkn.1_Missense_Mutation_p.F138V|L3MBTL_uc002xko.2_Missense_Mutation_p.F31V NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 379 MBT 2.|Interaction with monomethylated and dimethylated peptides. F->A: Abolishes binding to monomethylated and dimethylated peptides. Abolishes binding to p53/TP53 monomethylated at 'Lys-382'. 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) CCTGGTGCACTTTGACAACTG 0.582000 KCNS1 3787 broad.mit.edu 37 20 43726484 43726484 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:43726484A>C uc002xnc.2 - 4 1326 c.929T>G c.(928-930)ATT>AGT p.I310S KCNS1_uc002xnd.2_Missense_Mutation_p.I310S NM_002251 NP_002242 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel 310 Helical; Name=Segment S3; (Potential). voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding 0 Myeloproliferative disorder(115;0.0122) CACAGACACAATGTCGATGAG 0.627000 SEMG2 6407 broad.mit.edu 37 20 43851860 43851860 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:43851860A>C uc010ggz.2 + 2 1644 c.1587A>C c.(1585-1587)CAA>CAC p.Q529H SEMG2_uc002xnk.2_Missense_Mutation_p.Q529H|SEMG2_uc002xnl.2_Missense_Mutation_p.Q409H NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 529 Repeat-rich region.|3-2. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) AGTCTGGTCAATCTGCAGATA 0.393000 NEURL2 140825 broad.mit.edu 37 20 44519175 44519175 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:44519175A>C uc002xqg.1 - 1 727 c.456T>G c.(454-456)TTT>TTG p.F152L C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank NM_080749 NP_542787 Q9BR09 NEUL2_HUMAN neuralized-like protein 2 152 NHR. intracellular signal transduction 0 Myeloproliferative disorder(115;0.0122) GGGGAATGCGAAACTGCTCAA 0.692000 PLTP 5360 broad.mit.edu 37 20 44527644 44527644 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:44527644T>C uc002xqn.1 - 16 1498 c.1418A>G c.(1417-1419)GAG>GGG p.E473G PLTP_uc002xql.1_Missense_Mutation_p.E385G|PLTP_uc002xqm.1_Missense_Mutation_p.E493G|PLTP_uc002xqo.1_Missense_Mutation_p.E421G|PLTP_uc002xqp.1_Missense_Mutation_p.E468G|PLTP_uc002xqq.1_Missense_Mutation_p.E442G|PLTP_uc010zxj.1_Missense_Mutation_p.E378G|PLTP_uc010ghj.1_Missense_Mutation_p.E426G NM_006227 NP_006218 P55058 PLTP_HUMAN phospholipid transfer protein isoform a 473 cellular lipid metabolic process|lipid transport extracellular region lipid binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) CCGGTTCTTCTCAATCACCTC 0.567000 CDH22 64405 broad.mit.edu 37 20 44815501 44815501 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:44815501G>A uc002xrm.2 - 8 1910 c.1509C>T c.(1507-1509)TAC>TAT p.Y503Y CDH22_uc010ghk.1_Silent_p.Y503Y NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 503 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) CAGCTGCCTCGTAGGGTGTGG 0.592000 PARD6B 84612 broad.mit.edu 37 20 49366531 49366531 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:49366531T>G uc002xvo.2 + 3 868 c.625T>G c.(625-627)TTA>GTA p.L209V NM_032521 NP_115910 Q9BYG5 PAR6B_HUMAN PAR-6 beta 209 PDZ.|Interaction with PARD3 and CDC42 (By similarity). axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly cytosol|tight junction protein binding kidney(1) 1 TACAGGACTATTAGCTGTTAA 0.433000 KCNG1 3755 broad.mit.edu 37 20 49621273 49621273 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:49621273T>C uc002xwa.3 - 3 1140 c.845A>G c.(844-846)GAG>GGG p.E282G NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, 282 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 CAGGAGGAACTCCAGGGAGAA 0.642000 SALL4 57167 broad.mit.edu 37 20 50407880 50407880 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:50407880T>G uc002xwh.3 - 2 1243 c.1142A>C c.(1141-1143)AAG>ACG p.K381T SALL4_uc010gii.2_Missense_Mutation_p.K381T|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 381 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ACACTTGTGCTTGTAGAGGGC 0.547000 ZNF217 7764 broad.mit.edu 37 20 52193563 52193563 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:52193563A>C uc002xwq.3 - 3 2011 c.1740T>G c.(1738-1740)CCT>CCG p.P580P ZNF217_uc010gij.1_Silent_p.P572P NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 580 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GAAAAACAGAAGGCATCTCCT 0.438000 ZNF217 7764 broad.mit.edu 37 20 52199470 52199470 + Translation_Start_Site SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:52199470A>C uc002xwq.3 - 1 167 c.-104T>G c.(-106--102)ATTTG>ATGTG ZNF217_uc010gij.1_Translation_Start_Site NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) AACCAGAGCAAATATTTATTA 0.403000 C20orf43 51507 broad.mit.edu 37 20 55093316 55093316 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:55093316T>G uc002xxt.2 + 9 1023 c.916T>G c.(916-918)TTC>GTC p.F306V C20orf43_uc010zzf.1_Missense_Mutation_p.F336V|C20orf43_uc002xxu.2_Missense_Mutation_p.F305V|C20orf43_uc002xxv.2_3'UTR|GCNT7_uc010zzg.1_Intron NM_016407 NP_057491 Q9BY42 CT043_HUMAN hypothetical protein LOC51507 306 ovary(1) 1 Colorectal(105;0.202) GTCCTACTGCTTCTGAAGCCC 0.582000 BMP7 655 broad.mit.edu 37 20 55758840 55758840 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:55758840C>T uc010gip.1 - 4 1425 c.896G>A c.(895-897)CGC>CAC p.R299H BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Missense_Mutation_p.R299H NM_001719 NP_001710 P18075 BMP7_HUMAN bone morphogenetic protein 7 precursor 299 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity skin(1) 1 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) GTTCTGGCTGCGCTGTTTGCT 0.637000 RAE1 8480 broad.mit.edu 37 20 55948568 55948568 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:55948568A>C uc002xyg.2 + 9 1021 c.680A>C c.(679-681)AAG>ACG p.K227T RAE1_uc010gis.1_Missense_Mutation_p.K180T|RAE1_uc010git.1_Missense_Mutation_p.K227T|RAE1_uc002xyh.2_Missense_Mutation_p.K227T|RAE1_uc002xyi.2_Missense_Mutation_p.K227T NM_003610 NP_003601 P78406 RAE1L_HUMAN RAE1 (RNA export 1, S.pombe) homolog 227 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore microtubule binding|RNA binding 0 Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08) AAACAGAACAAGCCTACTGGT 0.408000 APCDD1L 164284 broad.mit.edu 37 20 57036043 57036043 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:57036043T>C uc002xze.1 - 4 1495 c.1309A>G c.(1309-1311)AGT>GGT p.S437G APCDD1L_uc010zzp.1_Missense_Mutation_p.S448G NM_153360 NP_699191 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 437 integral to membrane ovary(1) 1 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) GTATCGGGACTTGAGCCATCG 0.617000 LAMA5 3911 broad.mit.edu 37 20 60913663 60913663 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:60913663A>C uc002ycq.2 - 12 1546 c.1479T>G c.(1477-1479)AAT>AAG p.N493K NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 493 angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCAGTCACAATCTGGAGGGT 0.607000 C20orf11 54994 broad.mit.edu 37 20 61576119 61576119 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:61576119T>G uc002ydy.2 + 5 719 c.542T>G c.(541-543)CTA>CGA p.L181R NM_017896 NP_060366 Q9NWU2 CT011_HUMAN chromosome 20 open reading frame 11 181 nucleus protein binding 0 Breast(26;5.68e-08) CAAGCTGTGCTAGATTATGAA 0.408000 COL20A1 57642 broad.mit.edu 37 20 61938879 61938879 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr20:61938879T>C uc011aau.1 + 6 634 c.534T>C c.(532-534)GCT>GCC p.A178A COL20A1_uc011aav.1_5'UTR NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 178 cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) CCGTGCCTGCTGACATGGTCT 0.652000 TPTE 7179 broad.mit.edu 37 21 10944689 10944689 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr21:10944689T>G uc002yip.1 - 11 913 c.545A>C c.(544-546)AAG>ACG p.K182T TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.K164T|TPTE_uc002yir.1_Missense_Mutation_p.K144T|TPTE_uc010gkv.1_Missense_Mutation_p.K44T NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 182 Helical; (Potential). signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCTAAGCAACTTAATGTCAAA 0.299000 NRIP1 8204 broad.mit.edu 37 21 16337791 16337791 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr21:16337791T>C uc002yjx.2 - 4 3321 c.2723A>G c.(2722-2724)GAA>GGA p.E908G NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 908 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) ATATTTAAATTCAAGATCATT 0.438000 GRIK1 2897 broad.mit.edu 37 21 31023581 31023581 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr21:31023581T>C uc002yno.1 - 6 1275 c.811A>G c.(811-813)AGG>GGG p.R271G GRIK1_uc002ynn.2_Missense_Mutation_p.R271G|GRIK1_uc011acs.1_Missense_Mutation_p.R271G|GRIK1_uc011act.1_Missense_Mutation_p.R215G|GRIK1_uc010glq.1_Missense_Mutation_p.R129G|GRIK1_uc002ynr.2_Missense_Mutation_p.R271G NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 271 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CCACTGTACCTATAGAGTTCC 0.388000 KRTAP19-8 728299 broad.mit.edu 37 21 32410734 32410734 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr21:32410734C>T uc010glt.2 - 1 62 c.29G>A c.(28-30)GGC>GAC p.G10D NM_001099219 NP_001092689 Q3LI54 KR198_HUMAN keratin associated protein 19-8 10 intermediate filament upper_aerodigestive_tract(1) 1 ATAGCCCAGGCCTCCATAATA 0.547000 LCA5L 150082 broad.mit.edu 37 21 40777883 40777883 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr21:40777883T>C uc002yxu.2 - 10 2251 c.1938A>G c.(1936-1938)GGA>GGG p.G646G LCA5L_uc002yxv.2_Silent_p.G646G NM_152505 NP_689718 O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 646 0 Prostate(19;1.2e-06) CTTTAGAGTCTCCGAAAGCAT 0.418000 LCA5L 150082 broad.mit.edu 37 21 40778399 40778399 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr21:40778399T>G uc002yxu.2 - 10 1735 c.1422A>C c.(1420-1422)GAA>GAC p.E474D LCA5L_uc002yxv.2_Missense_Mutation_p.E474D NM_152505 NP_689718 O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 474 0 Prostate(19;1.2e-06) GATGAATAACTTCAATTATTT 0.343000 PDE9A 5152 broad.mit.edu 37 21 44151886 44151886 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr21:44151886T>G uc002zbm.2 + 5 332 c.269T>G c.(268-270)GTC>GGC p.V90G PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Intron|PDE9A_uc002zbp.2_5'UTR|PDE9A_uc002zbq.2_Intron|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Intron|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Intron|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Intron|PDE9A_uc002zca.2_Missense_Mutation_p.V49G|PDE9A_uc002zcb.2_Missense_Mutation_p.V64G|PDE9A_uc002zcc.2_Intron|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Missense_Mutation_p.V23G|PDE9A_uc002zcf.2_5'UTR|PDE9A_uc002zcg.2_Intron|PDE9A_uc002zch.2_5'UTR NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a 90 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 ATAGCTGGTGTCGAGGACAAG 0.532000 TRAPPC10 7109 broad.mit.edu 37 21 45499968 45499968 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr21:45499968G>A uc002zea.2 + 13 1852 c.1683G>A c.(1681-1683)CAG>CAA p.Q561Q TRAPPC10_uc010gpo.2_Silent_p.Q272Q|TRAPPC10_uc011afa.1_5'Flank NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 561 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 ACTTCTGCCAGGAGATACTTG 0.502000 TRPM2 7226 broad.mit.edu 37 21 45837923 45837923 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr21:45837923T>G uc002zet.1 + 22 3473 c.3260T>G c.(3259-3261)CTC>CGC p.L1087R TRPM2_uc002zeu.1_Missense_Mutation_p.L1087R|TRPM2_uc002zew.1_Missense_Mutation_p.L1087R|TRPM2_uc010gpt.1_Missense_Mutation_p.L1087R|TRPM2_uc002zex.1_Missense_Mutation_p.L873R|TRPM2_uc002zey.1_Missense_Mutation_p.L600R|uc011afe.1_Intron NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 1087 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 TTCATCCTCCTCAGCCACCTG 0.502000 PCNT 5116 broad.mit.edu 37 21 47810619 47810619 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr21:47810619A>C uc002zji.3 + 20 3982 c.3875A>C c.(3874-3876)GAA>GCA p.E1292A PCNT_uc002zjj.2_Missense_Mutation_p.E1174A NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 1292 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TCTCGTTTTGAAAAAGAATTT 0.418000 POTEH 23784 broad.mit.edu 37 22 16287707 16287707 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr22:16287707T>G uc010gqp.2 - 1 231 c.179A>C c.(178-180)AAG>ACG p.K60T POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 60 skin(1) 1 CTTGCCCATCTTGCTCCTGAG 0.602000 CECR2 27443 broad.mit.edu 37 22 18028887 18028887 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr22:18028887G>A uc010gqw.1 + 16 3970 c.3844G>A c.(3844-3846)GCA>ACA p.A1282T CECR2_uc010gqv.1_Missense_Mutation_p.A1140T|CECR2_uc002zml.2_Missense_Mutation_p.A1141T|CECR2_uc002zmo.2_RNA NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1324 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) CAACCATAACGCAGCTACCAA 0.502000 HIRA 7290 broad.mit.edu 37 22 19363240 19363240 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr22:19363240T>C uc002zpf.1 - 15 1909 c.1689A>G c.(1687-1689)AAA>AAG p.K563K HIRA_uc011agx.1_Silent_p.K429K|HIRA_uc010grn.1_Silent_p.K563K|HIRA_uc010gro.1_Silent_p.K519K|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 563 Interaction with CCNA1. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) AGTCAAACGCTTTCATGGGTT 0.552000 MED15 51586 broad.mit.edu 37 22 20920938 20920938 + Missense_Mutation SNP A A G rs149450332 TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr22:20920938A>G uc002zsp.2 + 7 955 c.875A>G c.(874-876)CAG>CGG p.Q292R MED15_uc002zso.2_Missense_Mutation_p.Q221R|MED15_uc002zsq.2_Missense_Mutation_p.Q292R|MED15_uc010gso.2_Missense_Mutation_p.Q292R|MED15_uc002zsr.2_Missense_Mutation_p.Q266R|MED15_uc011ahs.1_Missense_Mutation_p.Q266R|MED15_uc002zss.2_Missense_Mutation_p.Q211R|MED15_uc011ahu.1_Missense_Mutation_p.Q18R NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN mediator complex subunit 15 isoform a 292 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding skin(1) 1 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) CAGCTGCAGCAGATGCATCAC 0.607000 SLC7A4 6545 broad.mit.edu 37 22 21384460 21384460 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr22:21384460T>G uc002zud.2 - 3 1231 c.1163A>C c.(1162-1164)GAG>GCG p.E388A SLC7A4_uc002zue.2_Missense_Mutation_p.E388A NM_004173 NP_004164 O43246 CTR4_HUMAN solute carrier family 7 (cationic amino acid 388 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity ovary(1)|lung(1) 2 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AACCAGCGACTCCAGGTCCAG 0.637000 BCR 613 broad.mit.edu 37 22 23615951 23615951 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr22:23615951A>C uc002zww.2 + 8 2701 c.2105A>C c.(2104-2106)AAG>ACG p.K702T BCR_uc002zwx.2_Missense_Mutation_p.K702T|BCR_uc011aiy.1_Missense_Mutation_p.K291T|BCR_uc010gtx.1_Missense_Mutation_p.K169T NM_004327 NP_004318 P11274 BCR_HUMAN breakpoint cluster region isoform 1 702 regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1) 12 ATGACGGTGAAGAAGGGAGAG 0.622000 T ABL1| FGFR1|JAK2 CML|ALL|AML RFPL1 5988 broad.mit.edu 37 22 29838005 29838005 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr22:29838005T>C uc003afn.2 + 2 1057 c.848T>C c.(847-849)TTT>TCT p.F283S RFPL1S_uc003afm.1_RNA NM_021026 NP_066306 O75677 RFPL1_HUMAN ret finger protein-like 1 283 B30.2/SPRY. zinc ion binding 0 CACTTGTTTTTTGCTCCTCCA 0.493000 NEFH 4744 broad.mit.edu 37 22 29886668 29886668 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr22:29886668A>G uc003afo.2 + 4 3110 c.3039A>G c.(3037-3039)GAA>GAG p.E1013E NEFH_uc003afp.2_Missense_Mutation_p.K79R NM_021076 NP_066554 P12036 NFH_HUMAN neurofilament, heavy polypeptide 200kDa 1019 Tail. cell death|nervous system development neurofilament 0 AGGCCACAGAAGACAAGGCCG 0.512000 CCDC157 550631 broad.mit.edu 37 22 30772518 30772518 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr22:30772518A>T uc011aku.1 + 12 2703 c.2043A>T c.(2041-2043)CCA>CCT p.P681P CCDC157_uc011akv.1_Silent_p.P681P|uc003aho.1_5'Flank NM_001017437 NP_001017437 Q569K6 CC157_HUMAN coiled-coil domain containing 157 681 central_nervous_system(1) 1 GCACATCCCCACCTCGGCAGC 0.682000 SH3BP1 23616 broad.mit.edu 37 22 38061576 38061576 + Missense_Mutation SNP G G T rs150938915 byFrequency TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr22:38061576G>T uc003atj.1 + 17 2403 c.1516G>T c.(1516-1518)GCC>TCC p.A506S PDXP_uc003atm.1_Missense_Mutation_p.A197S Q9Y3L3 3BP1_HUMAN SubName: Full=cDNA FLJ44925 fis, clone BRAMY3014613, highly similar to Homo sapiens SH3-domain binding protein 1 (SH3BP1); Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment signal transduction cytoplasm GTPase activator activity|SH3 domain binding central_nervous_system(1) 1 Melanoma(58;0.0574) CGGGAGCCTGGCCGCTGCAGT 0.647000 SMCR7L 54471 broad.mit.edu 37 22 39908397 39908397 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr22:39908397T>C uc003axx.2 + 5 981 c.483T>C c.(481-483)GCT>GCC p.A161A SMCR7L_uc003axw.2_Silent_p.A161A|SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axy.2_5'UTR NM_019008 NP_061881 Q9NQG6 SMC7L_HUMAN hypothetical protein LOC54471 161 integral to membrane|mitochondrion central_nervous_system(1) 1 Melanoma(58;0.04) AGCAAGCTGCTGTGGACATAT 0.597000 TCF20 6942 broad.mit.edu 37 22 42609755 42609755 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr22:42609755T>C uc003bcj.1 - 1 1691 c.1557A>G c.(1555-1557)TTA>TTG p.L519L TCF20_uc003bck.1_Silent_p.L519L|TCF20_uc003bnt.2_Silent_p.L519L NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 519 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 AGCCTCCATCTAATGACTCTG 0.537000 CELSR1 9620 broad.mit.edu 37 22 46860029 46860029 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr22:46860029A>C uc003bhw.1 - 2 3758 c.3758T>G c.(3757-3759)GTC>GGC p.V1253G NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1253 Extracellular (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GTTGGAGCTGACGTCGGTGTC 0.652000 SAPS2 9701 broad.mit.edu 37 22 50857310 50857310 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr22:50857310T>A uc003blb.1 + 8 1055 c.633T>A c.(631-633)GCT>GCA p.A211A SAPS2_uc003bky.1_Silent_p.A211A|SAPS2_uc003bkz.1_Silent_p.A211A|SAPS2_uc003blc.2_Silent_p.A211A|SAPS2_uc003bla.1_Silent_p.A211A NM_014678 NP_055493 O75170 PP6R2_HUMAN SAPS domain family, member 2 211 cytoplasm|intracellular membrane-bounded organelle protein binding 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.222) AGTCAAATGCTTCTCAGACTC 0.572000 CNTN4 152330 broad.mit.edu 37 3 2787211 2787211 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:2787211A>C uc003bpc.2 + 5 409 c.188A>C c.(187-189)AAG>ACG p.K63T CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.K63T NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 63 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TATAGGTGGAAGTTAAATGGA 0.323000 EDEM1 9695 broad.mit.edu 37 3 5246886 5246886 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:5246886A>C uc003bqi.2 + 6 1309 c.1177A>C c.(1177-1179)AAT>CAT p.N393H EDEM1_uc011asz.1_Missense_Mutation_p.N171H|EDEM1_uc003bqh.2_Missense_Mutation_p.N393H NM_014674 NP_055489 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 393 Lumenal (Potential). ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding ovary(2)|breast(1) 3 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) AGAAATGTTTAATGCTGCATA 0.418000 IL17RC 84818 broad.mit.edu 37 3 9975191 9975191 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:9975191G>A uc003bua.2 + 19 2526 c.2290G>A c.(2290-2292)GAT>AAT p.D764N CIDEC_uc003bto.2_Intron|IL17RC_uc003btz.2_Missense_Mutation_p.D693N|IL17RC_uc011atp.1_Missense_Mutation_p.D519N|IL17RC_uc003bud.2_Missense_Mutation_p.D234N|IL17RC_uc003bub.2_Missense_Mutation_p.D678N|IL17RC_uc010hct.2_Missense_Mutation_p.D680N|IL17RC_uc010hcu.2_Missense_Mutation_p.D663N|IL17RC_uc010hcv.2_Missense_Mutation_p.D661N|IL17RC_uc011atq.1_3'UTR|IL17RC_uc003buc.2_Missense_Mutation_p.D221N|IL17RC_uc003bue.2_Missense_Mutation_p.D316N|CRELD1_uc003buf.2_5'Flank|CRELD1_uc003bug.2_5'Flank|CRELD1_uc003buh.2_5'Flank|CRELD1_uc003bui.2_5'Flank|CRELD1_uc003buj.2_5'Flank NM_153461 NP_703191 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C isoform 1 precursor 764 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|pancreas(1) 2 GCCAGCCCTGGATAGCTACTT 0.716000 IRAK2 3656 broad.mit.edu 37 3 10255072 10255072 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:10255072A>C uc003bve.1 + 5 786 c.710A>C c.(709-711)AAG>ACG p.K237T NM_001570 NP_001561 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 237 Protein kinase. ATP (By similarity). activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity lung(5)|breast(3) 8 TTCGTCTTCAAGAAGCTCAGA 0.542000 NUP210 23225 broad.mit.edu 37 3 13427890 13427890 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:13427890T>G uc003bxv.1 - 6 785 c.702A>C c.(700-702)GAA>GAC p.E234D NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 234 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) GCAGCCTGACTTCTGCAGGGC 0.498000 C3orf20 84077 broad.mit.edu 37 3 14731604 14731604 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:14731604A>C uc003byy.2 + 5 1130 c.726A>C c.(724-726)AAA>AAC p.K242N C3orf20_uc003byz.2_Missense_Mutation_p.K120N|C3orf20_uc003bza.2_Missense_Mutation_p.K120N|C3orf20_uc003byx.1_Missense_Mutation_p.K242N NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 242 cytoplasm|integral to membrane ovary(3)|skin(1) 4 CTGCTGGAAAAGAAGCCAAGA 0.522000 ZFYVE20 64145 broad.mit.edu 37 3 15116058 15116058 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:15116058T>G uc003bzm.1 - 14 2200 c.1586A>C c.(1585-1587)GAG>GCG p.E529A ZFYVE20_uc010hek.1_Missense_Mutation_p.E529A NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN FYVE-finger-containing Rab5 effector protein 529 Potential.|Necessary for the interaction with EHD1. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding skin(2) 2 TCGTTCCAACTCCCGTTCACG 0.602000 KAT2B 8850 broad.mit.edu 37 3 20187855 20187855 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:20187855T>G uc003cbq.2 + 14 2498 c.2052T>G c.(2050-2052)GTT>GTG p.V684V NM_003884 NP_003875 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 684 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 TTCGAAAAGTTTACCCTGGAC 0.338000 NEK10 152110 broad.mit.edu 37 3 27297800 27297800 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:27297800T>G uc003cdt.1 - 24 2351 c.2077A>C c.(2077-2079)ATC>CTC p.I693L NEK10_uc003cds.1_Missense_Mutation_p.I90L NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 isoform 3 693 Protein kinase. 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 GAATACAGGATTGTTCCAACC 0.343000 CMC1 152100 broad.mit.edu 37 3 28304858 28304858 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:28304858T>C uc003cea.2 + 2 257 c.96T>C c.(94-96)TCT>TCC p.S32S NM_182523 NP_872329 Q7Z7K0 COXAM_HUMAN COX assembly mitochondrial protein homolog 32 mitochondrion metal ion binding 0 AGAGGTGTTCTGAACAAGTTC 0.308000 AZI2 64343 broad.mit.edu 37 3 28368336 28368336 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:28368336A>T uc003ceb.2 - 7 1285 c.753T>A c.(751-753)ACT>ACA p.T251T AZI2_uc003cec.2_Silent_p.T139T|AZI2_uc003ced.2_Silent_p.T251T|AZI2_uc003cee.3_Silent_p.T251T NM_022461 NP_071906 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 isoform a 251 Interaction with TBK1. mitochondrion|plasma membrane ovary(2) 2 TCTTGATTGCAGTTGAGGTTT 0.398000 TGFBR2 7048 broad.mit.edu 37 3 30732958 30732958 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:30732958A>G uc003ceo.2 + 7 1953 c.1571A>G c.(1570-1572)GAC>GGC p.D524G TGFBR2_uc003cen.2_Missense_Mutation_p.D549G NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 524 Protein kinase.|Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding p.D524Y(1) pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 TGGGACCACGACCCAGAGGCC 0.602000 OSBPL10 114884 broad.mit.edu 37 3 31725256 31725256 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:31725256T>G uc003cev.2 - 9 1977 c.1596A>C c.(1594-1596)CAA>CAC p.Q532H OSBPL10_uc003ceu.1_Missense_Mutation_p.Q289H|OSBPL10_uc011axf.1_Missense_Mutation_p.Q468H NM_017784 NP_060254 Q9BXB5 OSB10_HUMAN oxysterol-binding protein-like protein 10 532 lipid transport lipid binding skin(1) 1 STAD - Stomach adenocarcinoma(1;0.00406) GATGGGACACTTGCTCAGCCA 0.527000 TRIM71 131405 broad.mit.edu 37 3 32860404 32860404 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:32860404T>A uc003cff.2 + 1 895 c.832T>A c.(832-834)TGC>AGC p.C278S NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 278 B box-type 2. multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 CCTCGGCTTCTGCCAGCACCA 0.677000 CLASP2 23122 broad.mit.edu 37 3 33648173 33648173 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:33648173T>C uc003cfu.2 - 16 1958 c.1604A>G c.(1603-1605)AAG>AGG p.K535R CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc003cfv.2_Missense_Mutation_p.K308R|CLASP2_uc011axu.1_Missense_Mutation_p.K312R|CLASP2_uc003cfw.2_Missense_Mutation_p.K308R|CLASP2_uc011axt.1_Missense_Mutation_p.K110R NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 536 ovary(3)|central_nervous_system(1) 4 TTGAAGACTCTTCTGATAAGA 0.398000 GOLGA4 2803 broad.mit.edu 37 3 37368464 37368464 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:37368464A>C uc003cgv.2 + 14 5391 c.5087A>C c.(5086-5088)AAG>ACG p.K1696T GOLGA4_uc010hgr.1_Missense_Mutation_p.K1257T|GOLGA4_uc003cgw.2_Missense_Mutation_p.K1718T|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.K1577T NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 1696 Potential.|Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 GAAAAACTTAAGTCAGTGGAA 0.373000 XYLB 9942 broad.mit.edu 37 3 38454461 38454461 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:38454461T>C uc003cic.2 + 19 1677 c.1568T>C c.(1567-1569)CTC>CCC p.L523P XYLB_uc011ayp.1_Missense_Mutation_p.L386P NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 523 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) TATGCCAAACTCGAGCAGAGA 0.537000 SCN10A 6336 broad.mit.edu 37 3 38835305 38835305 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:38835305A>G uc003ciq.2 - 1 197 c.197T>C c.(196-198)TTC>TCC p.F66S NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 66 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) CTCACCATAGAACTTGGGCAG 0.547000 SCN11A 11280 broad.mit.edu 37 3 38926878 38926878 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:38926878T>A uc011ays.1 - 17 3164 c.2965A>T c.(2965-2967)AGT>TGT p.S989C SCN11A_uc010hhn.1_Missense_Mutation_p.S67C NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 989 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GATAGTATACTGGTAACATCA 0.428000 SCN11A 11280 broad.mit.edu 37 3 38936103 38936103 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:38936103A>C uc011ays.1 - 15 2955 c.2756T>G c.(2755-2757)CTT>CGT p.L919R SCN11A_uc010hhn.1_Missense_Mutation_p.L35R NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 919 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CTCCTCCGCAAGTGGTGCCAA 0.498000 SCN11A 11280 broad.mit.edu 37 3 38968335 38968335 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:38968335T>A uc011ays.1 - 4 775 c.576A>T c.(574-576)CGA>CGT p.R192R NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 192 I. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCCATGGATCTCGAAGGAAAG 0.373000 ZNF621 285268 broad.mit.edu 37 3 40574022 40574022 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:40574022A>G uc003ckm.2 + 5 977 c.761A>G c.(760-762)CAG>CGG p.Q254R ZNF621_uc003ckn.2_Missense_Mutation_p.Q254R|ZNF621_uc003cko.2_Missense_Mutation_p.Q219R|ZNF621_uc011aze.1_Missense_Mutation_p.Q246R NM_001098414 NP_001091884 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 254 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) CTGCAGCATCAGAGATTACAC 0.443000 CTNNB1 1499 broad.mit.edu 37 3 41266097 41266097 + Missense_Mutation SNP G G C rs28931588 TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:41266097G>C uc010hia.1 + 4 250 c.94G>C c.(94-96)GAC>CAC p.D32H CTNNB1_uc003ckp.2_Missense_Mutation_p.D32H|CTNNB1_uc003ckq.2_Missense_Mutation_p.D32H|CTNNB1_uc003ckr.2_Missense_Mutation_p.D32H|CTNNB1_uc011azf.1_Missense_Mutation_p.D25H|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 32 Missing (in hepatocellular carcinoma).|D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.D32Y(110)|p.A5_A80del(63)|p.D32N(58)|p.D32G(53)|p.D32H(37)|p.D32V(20)|p.D32A(12)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.WQQQSYLD25?(5)|p.Q28_H134del(5)|p.W25_D32del(4)|p.W25_I140del(4)|p.S23_S33del(3)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32E(2)|p.D32_S47del(2)|p.W25_H36del(2)|p.Y30_S33del(2)|p.V22_S33del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S29_H36del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.V22_G80>NNNNN(1)|p.A5_I35del(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.D32del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.D32_H36>D(1)|p.P16_K133del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.E9_I140del(1)|p.D32_S33insS(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.A5_Q143>E(1)|p.A5_Q72del(1)|p.Q28_D32>H(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.S23_I35del(1)|p.V22_S71>A(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1)|p.D32_H36del(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GTCTTACCTGGACTCTGGAAT 0.478000 D32N(KE39_STOMACH) 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of ZNF662 389114 broad.mit.edu 37 3 42956217 42956217 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:42956217A>C uc003cmi.2 + 5 1004 c.652A>C c.(652-654)AAG>CAG p.K218Q ZNF662_uc003cmk.2_Missense_Mutation_p.K244Q|ZNF662_uc003cmj.2_Missense_Mutation_p.K110Q NM_207404 NP_997287 Q6ZS27 ZN662_HUMAN zinc finger protein 662 isoform 1 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.217) TAATGGAGAGAAGGTCTATGG 0.383000 ZNF501 115560 broad.mit.edu 37 3 44776252 44776252 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:44776252A>C uc003cnu.1 + 3 740 c.339A>C c.(337-339)AAA>AAC p.K113N ZNF501_uc003cnv.1_Missense_Mutation_p.K113N NM_145044 NP_659481 Q96CX3 ZN501_HUMAN zinc finger protein 501 113 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579) AATGTGGAAAAGCCTTTTGTC 0.388000 LARS2 23395 broad.mit.edu 37 3 45557745 45557745 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:45557745A>C uc003cop.1 + 17 2206 c.2021A>C c.(2020-2022)AAG>ACG p.K674T LARS2_uc010hit.1_Missense_Mutation_p.K631T NM_015340 NP_056155 Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 674 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) CCTCCTGAGAAGGATATCTTG 0.488000 SLC6A20 54716 broad.mit.edu 37 3 45811859 45811859 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:45811859T>A uc011bai.1 - 7 1064 c.940A>T c.(940-942)AGT>TGT p.S314C SLC6A20_uc003cow.2_5'UTR|SLC6A20_uc011baj.1_Missense_Mutation_p.S277C NM_020208 NP_064593 Q9NP91 S6A20_HUMAN solute carrier family 6, member 20 isoform 1 314 Extracellular (Potential). cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) AGCAGCAGACTCACCCTGCAG 0.527000 SETD2 29072 broad.mit.edu 37 3 47142946 47142946 + Splice_Site SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:47142946A>G uc003cqs.2 - 8 5068 c.5015_splice c.e8+1 p.G1672_splice SETD2_uc003cqv.2_Splice_Site_p.G1739_splice NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AACAATACTTACCCATATCTC 0.358000 N|F|S|Mis clear cell renal carcinoma DHX30 22907 broad.mit.edu 37 3 47890551 47890551 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:47890551A>T uc003cru.2 + 18 3337 c.2911A>T c.(2911-2913)AGC>TGC p.S971C DHX30_uc003crt.2_Missense_Mutation_p.S932C|MIR1226_hsa-mir-1226|MI0006313_5'Flank NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 971 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GTACGCACCCAGCCTGCGCTT 0.657000 CELSR3 1951 broad.mit.edu 37 3 48699754 48699754 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:48699754G>A uc003cul.2 - 1 595 c.314C>T c.(313-315)CCG>CTG p.P105L CELSR3_uc003cuf.1_Missense_Mutation_p.P175L NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 105 Extracellular (Potential). 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) CTCCTCATTCGGCTGCTCAGG 0.652000 NCKIPSD 51517 broad.mit.edu 37 3 48717555 48717555 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:48717555A>C uc003cun.2 - 6 1294 c.1200T>G c.(1198-1200)AGT>AGG p.S400R NCKIPSD_uc003cum.2_Missense_Mutation_p.S393R NM_016453 NP_057537 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain isoform 400 cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ATAGTGCCCAACTGCGCTGCT 0.617000 MST1R 4486 broad.mit.edu 37 3 49940444 49940444 + Missense_Mutation SNP G G C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:49940444G>C uc003cxy.3 - 1 863 c.599C>G c.(598-600)GCA>GGA p.A200G MST1R_uc011bdd.1_Missense_Mutation_p.A200G|MST1R_uc011bde.1_Missense_Mutation_p.A200G|MST1R_uc011bdf.1_Missense_Mutation_p.A200G|MST1R_uc011bdg.1_Missense_Mutation_p.A200G NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 200 Extracellular (Potential).|Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CAGTGAGGATGCCACGTAGAA 0.622000 HEMK1 51409 broad.mit.edu 37 3 50608706 50608706 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:50608706C>T uc003dau.2 + 2 467 c.171C>T c.(169-171)ATC>ATT p.I57I C3orf18_uc003dat.2_5'Flank|HEMK1_uc003dav.2_Silent_p.I57I|HEMK1_uc003daw.2_Silent_p.I57I NM_016173 NP_057257 Q9Y5R4 HEMK1_HUMAN HemK methyltransferase family member 1 57 DNA methylation DNA binding|N-methyltransferase activity|protein methyltransferase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212) AGAGGGGTATCCCTGAGGCCC 0.552000 RAD54L2 23132 broad.mit.edu 37 3 51671359 51671359 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:51671359T>C uc011bdt.1 + 10 1647 c.1522T>C c.(1522-1524)TTT>CTT p.F508L RAD54L2_uc003dbh.2_Missense_Mutation_p.F99L|RAD54L2_uc011bdu.1_Missense_Mutation_p.F202L|RAD54L2_uc003dbj.2_5'UTR NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 508 Helicase ATP-binding. nucleus ATP binding|DNA binding|helicase activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) CATGGTGGACTTTGTGCGCCC 0.552000 RAD54L2 23132 broad.mit.edu 37 3 51697390 51697390 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:51697390A>C uc011bdt.1 + 22 4483 c.4358A>C c.(4357-4359)GAT>GCT p.D1453A RAD54L2_uc003dbh.2_Missense_Mutation_p.D1042A|RAD54L2_uc011bdu.1_Missense_Mutation_p.D1147A|RAD54L2_uc003dbj.2_Missense_Mutation_p.D779A NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 1453 nucleus ATP binding|DNA binding|helicase activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) AGCTCCAATGATGATGAGGAT 0.577000 RRP9 9136 broad.mit.edu 37 3 51969429 51969429 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:51969429A>G uc003dbw.1 - 10 939 c.900T>C c.(898-900)GCT>GCC p.A300A NM_004704 NP_004695 O43818 U3IP2_HUMAN RNA, U3 small nucleolar interacting protein 2 300 WD 4. rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) CCCGGCCCCCAGCCGTCACAC 0.642000 BAP1 8314 broad.mit.edu 37 3 52437539 52437539 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:52437539A>C uc003ddx.2 - 13 1737 c.1622T>G c.(1621-1623)GTT>GGT p.V541G BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_Intron NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 541 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) TATGCAGTCAACACGCAGCAG 0.627000 N|Mis|F|S|O uveal melanoma|breast|NSCLC PBRM1 55193 broad.mit.edu 37 3 52620677 52620677 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:52620677A>C uc003des.2 - 20 3163 c.3151T>G c.(3151-3153)TTC>GTC p.F1051V PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.F1051V|PBRM1_uc003der.2_Missense_Mutation_p.F1019V|PBRM1_uc003det.2_Missense_Mutation_p.F1066V|PBRM1_uc003deu.2_Missense_Mutation_p.F1066V|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.F1051V|PBRM1_uc010hmk.1_Missense_Mutation_p.F1026V|PBRM1_uc003dey.2_Missense_Mutation_p.F1026V|PBRM1_uc003dez.1_Missense_Mutation_p.F1050V|PBRM1_uc003dfb.1_Missense_Mutation_p.F963V|PBRM1_uc003dfa.1_Missense_Mutation_p.F397V NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 1051 BAH 1. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCATCTCGGAAGTTTTCTGGG 0.373000 Mis|N|F|S|D|O clear cell renal carcinoma|breast NEK4 6787 broad.mit.edu 37 3 52780851 52780851 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:52780851A>G uc003dfq.3 - 9 1765 c.1576T>C c.(1576-1578)TCT>CCT p.S526P NEK4_uc011bej.1_Missense_Mutation_p.S437P|NEK4_uc003dfr.2_Missense_Mutation_p.S480P NM_003157 NP_003148 P51957 NEK4_HUMAN NIMA-related kinase 4 526 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) TCAGACCCAGAGTTGTGTGGC 0.443000 TKT 7086 broad.mit.edu 37 3 53274289 53274289 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:53274289C>T uc003dgo.2 - 4 525 c.415G>A c.(415-417)GGC>AGC p.G139S TKT_uc011beo.1_Missense_Mutation_p.G92S|TKT_uc003dgq.2_Missense_Mutation_p.G139S|TKT_uc011beq.1_Missense_Mutation_p.G139S|TKT_uc011ber.1_5'UTR|TKT_uc011bep.1_Missense_Mutation_p.G56S NM_001135055 NP_001128527 P29401 TKT_HUMAN transketolase isoform 1 139 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity ovary(2) 2 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) AAGTATTTGCCGGTGTAGGCC 0.602000 PXK 54899 broad.mit.edu 37 3 58377558 58377558 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:58377558T>G uc003djz.1 + 7 698 c.599T>G c.(598-600)CTT>CGT p.L200R PXK_uc003djx.1_Missense_Mutation_p.L200R|PXK_uc003djy.1_Missense_Mutation_p.L183R|PXK_uc003dka.1_Missense_Mutation_p.L200R|PXK_uc003dkb.1_Missense_Mutation_p.L117R|PXK_uc003dkc.1_Missense_Mutation_p.L183R|PXK_uc011bfe.1_Missense_Mutation_p.L167R|PXK_uc010hnj.1_Missense_Mutation_p.L167R|PXK_uc003dkd.1_Missense_Mutation_p.L63R|PXK_uc010hnk.1_Intron NM_017771 NP_060241 Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 200 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) CTAATCAAACTTCTGCCTTCT 0.403000 ACOX2 8309 broad.mit.edu 37 3 58519189 58519189 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:58519189T>A uc003dkl.2 - 5 741 c.566A>T c.(565-567)AAA>ATA p.K189I NM_003500 NP_003491 Q99424 ACOX2_HUMAN acyl-Coenzyme A oxidase 2 189 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) AGGCCACCATTTGGTGGCAGT 0.438000 OREG0015638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TMF1 7110 broad.mit.edu 37 3 69096977 69096977 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:69096977A>C uc003dnn.2 - 2 1126 c.879T>G c.(877-879)TTT>TTG p.F293L TMF1_uc011bfx.1_Missense_Mutation_p.F293L NM_007114 NP_009045 P82094 TMF1_HUMAN TATA element modulatory factor 1 293 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity 0 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) AGAGAAGCTGAAAAGATGTCT 0.378000 CNTN3 5067 broad.mit.edu 37 3 74418407 74418407 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:74418407A>C uc003dpm.1 - 7 959 c.879T>G c.(877-879)GGT>GGG p.G293G NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 293 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ATTCATAGGAACCTGCATCTT 0.428000 ROBO1 6091 broad.mit.edu 37 3 78655933 78655933 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:78655933T>C uc003dqe.2 - 29 4902 c.4694A>G c.(4693-4695)AAC>AGC p.N1565S ROBO1_uc003dqb.2_Missense_Mutation_p.N1526S|ROBO1_uc003dqc.2_Missense_Mutation_p.N1465S|ROBO1_uc003dqd.2_Missense_Mutation_p.N1520S|ROBO1_uc010hoh.2_Missense_Mutation_p.N757S|ROBO1_uc011bgl.1_Missense_Mutation_p.N1137S NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1565 Cytoplasmic (Potential). 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) TGCTGCCTTGTTTCCACGTCC 0.453000 ROBO1 6091 broad.mit.edu 37 3 78735060 78735060 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:78735060A>C uc003dqe.2 - 10 1386 c.1178T>G c.(1177-1179)CTT>CGT p.L393R ROBO1_uc003dqb.2_Missense_Mutation_p.L354R|ROBO1_uc003dqc.2_Missense_Mutation_p.L357R|ROBO1_uc003dqd.2_Missense_Mutation_p.L357R|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc003dqf.1_Missense_Mutation_p.L72R NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 393 Extracellular (Potential).|Ig-like C2-type 4. 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) ATATGAGAAAAGTAGATTCTA 0.348000 CADM2 253559 broad.mit.edu 37 3 86028312 86028312 + Splice_Site SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:86028312A>G uc003dqj.2 + 8 1570 c.944_splice c.e8-2 p.D315_splice CADM2_uc003dqk.2_Intron|CADM2_uc003dql.2_Splice_Site_p.D317_splice NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) TCCACTCACCAGATGTTCCCA 0.368000 EPHA3 2042 broad.mit.edu 37 3 89176368 89176368 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:89176368T>G uc003dqy.2 + 2 323 c.98T>G c.(97-99)CTG>CGG p.L33R EPHA3_uc003dqx.1_Missense_Mutation_p.L33R|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 33 Extracellular (Potential). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GTCAATCTACTGGATTCAAAA 0.338000 TSP Lung(6;0.00050) ARL13B 200894 broad.mit.edu 37 3 93761872 93761872 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:93761872T>C uc003drc.2 + 7 1098 c.812T>C c.(811-813)CTT>CCT p.L271P ARL13B_uc010hop.2_Missense_Mutation_p.L122P|ARL13B_uc003drd.2_Missense_Mutation_p.L164P|ARL13B_uc003dre.2_Missense_Mutation_p.L256P|ARL13B_uc003drf.2_Missense_Mutation_p.L271P|ARL13B_uc003drg.2_Missense_Mutation_p.L168P NM_182896 NP_878899 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 2-like 1 isoform 1 271 GTP binding 0 GAAGGAAAACTTGAAAGAGAG 0.333000 CRYBG3 131544 broad.mit.edu 37 3 97596378 97596378 + Nonsense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:97596378A>T uc003drx.2 + 1 560 c.496A>T c.(496-498)AGA>TGA p.R166* NM_153605 NP_705833 beta-gamma crystallin domain containing 3 0 CAGGAAATCAAGAGACAGTGA 0.438000 OR5H6 79295 broad.mit.edu 37 3 97983357 97983357 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:97983357T>G uc003dsi.1 + 1 229 c.229T>G c.(229-231)TTA>GTA p.L77V NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 77 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 CCCAATGTACTTATTCCTTGG 0.413000 ABI3BP 25890 broad.mit.edu 37 3 100595371 100595371 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:100595371T>G uc003dun.2 - 7 836 c.751A>C c.(751-753)ACA>CCA p.T251P ABI3BP_uc003duo.2_Missense_Mutation_p.T244P|ABI3BP_uc003dup.3_Missense_Mutation_p.T244P NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 251 extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 TTGATGATTGTTATTGGGATT 0.353000 IMPG2 50939 broad.mit.edu 37 3 100963575 100963575 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:100963575T>A uc003duq.1 - 13 1803 c.1600A>T c.(1600-1602)AGT>TGT p.S534C IMPG2_uc011bhe.1_Missense_Mutation_p.S397C NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 534 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GTGAATGAACTTGAAGGCAAT 0.348000 CBLB 868 broad.mit.edu 37 3 105378018 105378018 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:105378018T>A uc003dwc.2 - 19 3067 c.2745A>T c.(2743-2745)CCA>CCT p.P915P CBLB_uc003dwa.2_Silent_p.P130P|CBLB_uc011bhi.1_Silent_p.P893P NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 915 Pro-rich.|Interaction with SH3KBP1. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 GGTGAATTTCTGGTGCAGTCC 0.463000 Mis S AML CCDC54 84692 broad.mit.edu 37 3 107097406 107097406 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:107097406A>C uc003dwi.1 + 1 1219 c.972A>C c.(970-972)GAA>GAC p.E324D NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 324 0 TAAAAGAAGAAGTAACTCGAC 0.403000 KIAA2018 205717 broad.mit.edu 37 3 113375311 113375311 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:113375311T>G uc003eam.2 - 7 5629 c.5218A>C c.(5218-5220)AGT>CGT p.S1740R KIAA2018_uc003eal.2_Missense_Mutation_p.S1684R NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1740 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 CTAGCTCCACTTGGTTTAAAC 0.428000 IGSF11 152404 broad.mit.edu 37 3 118645003 118645003 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:118645003A>C uc003ebw.2 - 4 772 c.525T>G c.(523-525)ACT>ACG p.T175T IGSF11_uc011biv.1_Silent_p.T175T|IGSF11_uc003ebx.2_Silent_p.T175T|IGSF11_uc003eby.2_Silent_p.T174T|IGSF11_uc003ebz.2_Silent_p.T174T|IGSF11_uc010hqs.2_Silent_p.T174T NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 175 Ig-like C2-type.|Extracellular (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 CCCAAAGGTAAGTTGGTCGAG 0.478000 B4GALT4 8702 broad.mit.edu 37 3 118948756 118948756 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:118948756G>A uc003ecg.2 - 3 832 c.191C>T c.(190-192)ACT>ATT p.T64I B4GALT4_uc003ece.1_Missense_Mutation_p.T64I|B4GALT4_uc003ecf.2_RNA|B4GALT4_uc003ech.2_Missense_Mutation_p.T64I|B4GALT4_uc003eci.2_Missense_Mutation_p.T64I|B4GALT4_uc011biy.1_Intron NM_212543 NP_997708 O60513 B4GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 64 Lumenal (Potential). membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding|N-acetyllactosamine synthase activity 0 GBM - Glioblastoma multiforme(114;0.222) N-Acetyl-D-glucosamine(DB00141) TGCTTCATTAGTCAGAGTTTT 0.413000 C3orf15 89876 broad.mit.edu 37 3 119426380 119426380 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:119426380C>T uc010hqx.1 + 3 408 c.331C>T c.(331-333)CAC>TAC p.H111Y C3orf15_uc003edc.2_Missense_Mutation_p.H111Y|C3orf15_uc010hqy.1_Missense_Mutation_p.H111Y|C3orf15_uc003ede.3_Missense_Mutation_p.H111Y|C3orf15_uc010hqz.2_Missense_Mutation_p.H49Y|C3orf15_uc011bjd.1_Intron|C3orf15_uc011bje.1_Missense_Mutation_p.H91Y|C3orf15_uc010hra.1_5'UTR Q7Z4T9 AAT1_HUMAN RecName: Full=AMY-1-associating protein expressed in testis 1; Short=AAT-1; 111 mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) TAAGGAGAAACACAGAGAAGC 0.438000 POLQ 10721 broad.mit.edu 37 3 121238762 121238762 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:121238762T>A uc003eee.3 - 9 1553 c.1424A>T c.(1423-1425)AAG>ATG p.K475M NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 475 Helicase C-terminal. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) AACCATCTGCTTATAAGTAAG 0.438000 DNA_polymerases_(catalytic_subunits) FBXO40 51725 broad.mit.edu 37 3 121340935 121340935 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:121340935A>C uc003eeg.2 + 3 869 c.659A>C c.(658-660)AAT>ACT p.N220T NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 220 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) CAGTGGGAAAATATTTTCAGC 0.468000 GOLGB1 2804 broad.mit.edu 37 3 121414777 121414777 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:121414777T>G uc003eei.3 - 13 4704 c.4578A>C c.(4576-4578)CAA>CAC p.Q1526H GOLGB1_uc010hrc.2_Missense_Mutation_p.Q1531H|GOLGB1_uc003eej.3_Missense_Mutation_p.Q1492H|GOLGB1_uc011bjm.1_Missense_Mutation_p.Q1412H|GOLGB1_uc010hrd.1_Missense_Mutation_p.Q1490H NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1526 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) GAGCAGAAACTTGGCTTTCCA 0.393000 GOLGB1 2804 broad.mit.edu 37 3 121415485 121415485 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:121415485A>G uc003eei.3 - 13 3996 c.3870T>C c.(3868-3870)TCT>TCC p.S1290S GOLGB1_uc010hrc.2_Silent_p.S1295S|GOLGB1_uc003eej.3_Silent_p.S1256S|GOLGB1_uc011bjm.1_Silent_p.S1176S|GOLGB1_uc010hrd.1_Silent_p.S1254S NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1290 Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) CTTCAGAATGAGAAGGCCAGT 0.468000 EAF2 55840 broad.mit.edu 37 3 121573582 121573582 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:121573582T>C uc003een.2 + 3 349 c.250T>C c.(250-252)TTA>CTA p.L84L EAF2_uc003eeo.2_Intron NM_018456 NP_060926 Q96CJ1 EAF2_HUMAN ELL associated factor 2 84 Necessary for interaction with ELL. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding 0 GBM - Glioblastoma multiforme(114;0.0972) AAAACCTTACTTAAAAGAATG 0.299000 CCDC58 131076 broad.mit.edu 37 3 122090532 122090532 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:122090532A>C uc003eey.2 - 2 170 c.167T>G c.(166-168)CTT>CGT p.L56R NM_001017928 NP_001017928 Q4VC31 CCD58_HUMAN coiled-coil domain containing 58 56 0 GBM - Glioblastoma multiforme(114;0.148) AGACTCATAAAGTTGTTTACA 0.373000 PARP14 54625 broad.mit.edu 37 3 122418264 122418264 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:122418264T>C uc003efq.3 + 6 922 c.863T>C c.(862-864)CTC>CCC p.L288P PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.L5P|PARP14_uc003efs.1_Missense_Mutation_p.L5P NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) GCCACAAAACTCGACTTCAAT 0.393000 PARP14 54625 broad.mit.edu 37 3 122418777 122418777 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:122418777A>C uc003efq.3 + 6 1435 c.1376A>C c.(1375-1377)AAA>ACA p.K459T PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.K176T|PARP14_uc003efs.1_Missense_Mutation_p.K176T NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) ACTACTCAAAAAATTAAAAGG 0.383000 ALDH1L1 10840 broad.mit.edu 37 3 125854444 125854444 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:125854444T>G uc003eim.1 - 12 1596 c.1406A>C c.(1405-1407)AAG>ACG p.K469T ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.K368T|ALDH1L1_uc003eio.2_Missense_Mutation_p.K171T|ALDH1L1_uc010hsf.1_Missense_Mutation_p.K495T NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 469 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) AAAGGCATCCTTGGCTGCGGC 0.607000 KIAA1257 57501 broad.mit.edu 37 3 128706568 128706568 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:128706568T>C uc003elj.3 - 4 754 c.558A>G c.(556-558)AAA>AAG p.K186K KIAA1257_uc003elg.1_Silent_p.K186K|KIAA1257_uc003eli.3_Silent_p.K74K NM_020741 NP_065792 Q9ULG3 K1257_HUMAN hypothetical protein LOC57501 186 0 TCAAGGTGATTTTGTGGAAAT 0.428000 IFT122 55764 broad.mit.edu 37 3 129195557 129195557 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:129195557A>G uc003emm.2 + 11 1266 c.1060A>G c.(1060-1062)ACA>GCA p.T354A IFT122_uc003eml.2_Missense_Mutation_p.T405A|IFT122_uc003emn.2_Missense_Mutation_p.T295A|IFT122_uc003emo.2_Missense_Mutation_p.T243A|IFT122_uc003emp.2_Missense_Mutation_p.T204A|IFT122_uc010htc.2_Missense_Mutation_p.T346A|IFT122_uc011bky.1_Missense_Mutation_p.T145A|IFT122_uc003emq.2_Missense_Mutation_p.T194A|IFT122_uc003emr.2_Missense_Mutation_p.T145A|IFT122_uc011bla.1_Missense_Mutation_p.T145A|IFT122_uc011bkx.1_Missense_Mutation_p.T194A|IFT122_uc011bkz.1_RNA NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 354 WD 6. 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 TATTTTCAGCACAGTCCATGG 0.532000 IFT122 55764 broad.mit.edu 37 3 129233240 129233240 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:129233240T>A uc003emm.2 + 25 3202 c.2996T>A c.(2995-2997)CTC>CAC p.L999H IFT122_uc003eml.2_Missense_Mutation_p.L1050H|IFT122_uc003emn.2_Missense_Mutation_p.L940H|IFT122_uc003emo.2_Missense_Mutation_p.L889H|IFT122_uc003emp.2_Missense_Mutation_p.L849H|IFT122_uc010htc.2_Missense_Mutation_p.L992H|IFT122_uc011bky.1_Missense_Mutation_p.L790H|IFT122_uc003emq.2_Missense_Mutation_p.L839H|IFT122_uc003emr.2_Missense_Mutation_p.L752H|IFT122_uc011bla.1_Missense_Mutation_p.L773H|IFT122_uc010hte.2_Missense_Mutation_p.L325H|IFT122_uc003ems.2_Missense_Mutation_p.L381H NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 999 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 AGGAAAATACTCTTCACCTTG 0.607000 TMCC1 23023 broad.mit.edu 37 3 129389315 129389315 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:129389315A>T uc003emz.3 - 5 1870 c.1369T>A c.(1369-1371)TCA>ACA p.S457T TMCC1_uc003emy.3_Missense_Mutation_p.S133T|TMCC1_uc011blc.1_Missense_Mutation_p.S278T|TMCC1_uc010htg.2_Missense_Mutation_p.S343T NM_001017395 NP_001017395 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 457 integral to membrane skin(1) 1 TCAAATCCTGAGCTCTGCATG 0.522000 COL6A6 131873 broad.mit.edu 37 3 130286941 130286941 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:130286941A>C uc010htl.2 + 5 1925 c.1894A>C c.(1894-1896)AGT>CGT p.S632R NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 632 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CAGTTCTGGAAGTATAGGACC 0.398000 ACAD11 84129 broad.mit.edu 37 3 132345663 132345663 + Splice_Site SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:132345663T>G uc003eov.3 - 9 1451 c.1071_splice c.e9-1 p.R357_splice ACAD11_uc011blr.1_5'UTR|ACAD11_uc003eoy.2_Splice_Site_p.R357_splice NM_032169 NP_115545 Q709F0 ACD11_HUMAN putative acyl-CoA dehydrogenase peroxisome acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups ovary(1) 1 CTGAAAGTTCTTTGCCAAAAG 0.279000 TOPBP1 11073 broad.mit.edu 37 3 133339089 133339089 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:133339089A>G uc003eps.2 - 20 3413 c.3281T>C c.(3280-3282)CTT>CCT p.L1094P TOPBP1_uc003ept.1_Missense_Mutation_p.L98P NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 1094 DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 ACTTCTTGAAAGGGAAGTCCT 0.493000 Other_conserved_DNA_damage_response_genes RAB6B 51560 broad.mit.edu 37 3 133557075 133557075 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:133557075G>A uc003epy.2 - 6 811 c.430C>T c.(430-432)CGC>TGC p.R144C RAB6B_uc011blu.1_Missense_Mutation_p.R131C NM_016577 NP_057661 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family 144 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|Golgi membrane GTP binding|GTPase activity|protein binding pancreas(1) 1 TCTTTGGCGCGCTGCTCCCCC 0.502000 ARMC8 25852 broad.mit.edu 37 3 137942279 137942279 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:137942279T>G uc003esa.1 + 5 568 c.201T>G c.(199-201)ACT>ACG p.T67T ARMC8_uc003erw.2_Silent_p.T67T|ARMC8_uc003erx.2_Silent_p.T67T|ARMC8_uc003ery.2_Silent_p.T39T|ARMC8_uc003erz.2_Silent_p.T39T|ARMC8_uc011bmf.1_Silent_p.T81T|ARMC8_uc011bmg.1_Silent_p.T81T|ARMC8_uc011bmh.1_Silent_p.T39T|ARMC8_uc003esb.1_Silent_p.T39T NM_015396 NP_056211 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 isoform 2 81 ARM 1. binding 0 AGCTGAAAACTGAATGTGCAG 0.383000 TRIM42 287015 broad.mit.edu 37 3 140407025 140407025 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:140407025G>A uc003eto.1 + 3 1692 c.1501G>A c.(1501-1503)GGG>AGG p.G501R NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 501 intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 ACGCTCCTCAGGGGACTCCCT 0.567000 XRN1 54464 broad.mit.edu 37 3 142103387 142103387 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:142103387A>C uc003eus.2 - 21 2547 c.2480T>G c.(2479-2481)TTT>TGT p.F827C XRN1_uc010huu.2_Missense_Mutation_p.F293C|XRN1_uc003eut.2_Missense_Mutation_p.F827C|XRN1_uc003euu.2_Missense_Mutation_p.F827C|XRN1_uc003euv.1_Missense_Mutation_p.F688C NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 827 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 TTGATAAACAAAAGGAACAAC 0.308000 ATR 545 broad.mit.edu 37 3 142231116 142231116 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:142231116T>G uc003eux.3 - 27 4960 c.4838A>C c.(4837-4839)AAG>ACG p.K1613T NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1613 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TGAGTCTACCTTATTTCTGTT 0.368000 Other_conserved_DNA_damage_response_genes SLC9A9 285195 broad.mit.edu 37 3 143214209 143214209 + Missense_Mutation SNP T T C rs138653730 TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:143214209T>C uc003evn.2 - 10 1353 c.1171A>G c.(1171-1173)ATC>GTC p.I391V NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 391 Helical; (Potential). regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 GCATTAAAGATATGATTCTGG 0.353000 PLOD2 5352 broad.mit.edu 37 3 145790437 145790437 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:145790437A>C uc003evs.1 - 16 2202 c.1696T>G c.(1696-1698)TTT>GTT p.F566V PLOD2_uc003evq.1_Missense_Mutation_p.F247V|PLOD2_uc011bnm.1_Missense_Mutation_p.F532V|PLOD2_uc003evr.1_Missense_Mutation_p.F587V NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 566 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Vitamin C(DB00126) GGGAACCAAAAGACATCTGGA 0.284000 IGSF10 285313 broad.mit.edu 37 3 151165878 151165878 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:151165878T>G uc011bod.1 - 4 1891 c.1891A>C c.(1891-1893)AGA>CGA p.R631R NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 631 Ig-like C2-type 2. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGTAATATTCTTAATGTGCCA 0.413000 MBNL1 4154 broad.mit.edu 37 3 152132860 152132860 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:152132860T>C uc003ezm.2 + 2 1094 c.305T>C c.(304-306)CTA>CCA p.L102P MBNL1_uc003ezh.2_Missense_Mutation_p.L102P|MBNL1_uc003ezi.2_Missense_Mutation_p.L102P|MBNL1_uc003ezj.2_Missense_Mutation_p.L45P|MBNL1_uc003ezl.2_Missense_Mutation_p.L102P|MBNL1_uc003ezp.2_Missense_Mutation_p.L102P|MBNL1_uc003ezn.2_Missense_Mutation_p.L102P|MBNL1_uc003ezo.2_Missense_Mutation_p.L102P|MBNL1_uc010hvp.2_Missense_Mutation_p.L10P NM_207293 NP_997176 Q9NR56 MBNL1_HUMAN muscleblind-like 1 isoform c 102 embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CAAATGCAACTAGCCAATGCC 0.438000 TIPARP 25976 broad.mit.edu 37 3 156413677 156413677 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:156413677A>C uc003fav.2 + 4 1358 c.1110A>C c.(1108-1110)GAA>GAC p.E370D TIPARP_uc003faw.2_Missense_Mutation_p.E370D NM_015508 NP_056323 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 370 WWE. NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|breast(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TGATTGAAGAAGCCAACTCTC 0.353000 IL12A 3592 broad.mit.edu 37 3 159713282 159713282 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:159713282T>G uc003fcx.2 + 7 913 c.698T>G c.(697-699)CTT>CGT p.L233R uc003fcw.1_Intron NM_000882 NP_000873 P29459 IL12A_HUMAN interleukin 12A precursor 199 cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity 0 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TGCATACTTCTTCATGCTTTC 0.403000 BCHE 590 broad.mit.edu 37 3 165548648 165548648 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:165548648T>G uc003fem.3 - 2 334 c.174A>C c.(172-174)GGA>GGC p.G58G BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 58 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) CATAGGGAATTCCAAGAAAGG 0.413000 SERPINI1 5274 broad.mit.edu 37 3 167510376 167510376 + Splice_Site SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:167510376A>G uc003ffa.3 + 4 680 c.482_splice c.e4-2 p.N161_splice SERPINI1_uc003ffb.3_Splice_Site_p.N161_splice NM_001122752 NP_001116224 Q99574 NEUS_HUMAN neuroserpin precursor central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(1) 1 TTTCCTAAATAGATCTGGTGA 0.398000 LRRC31 79782 broad.mit.edu 37 3 169578490 169578490 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:169578490A>G uc003fgc.1 - 3 423 c.346T>C c.(346-348)TTG>CTG p.L116L LRRC31_uc010hwp.1_Intron NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 116 ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) AGTTCTTCCAAGTCTGGGAGA 0.398000 SLC7A14 57709 broad.mit.edu 37 3 170201299 170201299 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:170201299A>C uc003fgz.2 - 6 1235 c.919T>G c.(919-921)TTA>GTA p.L307V CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 307 Helical; (Potential). integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) ATCAGAGTTAAGATCACGCTC 0.512000 OREG0015917 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TNIK 23043 broad.mit.edu 37 3 170797363 170797363 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:170797363T>C uc003fhh.2 - 28 3737 c.3392A>G c.(3391-3393)AAG>AGG p.K1131R TNIK_uc003fhi.2_Missense_Mutation_p.K1076R|TNIK_uc003fhj.2_Missense_Mutation_p.K1102R|TNIK_uc003fhk.2_Missense_Mutation_p.K1123R|TNIK_uc003fhl.2_Missense_Mutation_p.K1047R|TNIK_uc003fhm.2_Missense_Mutation_p.K1068R|TNIK_uc003fhn.2_Missense_Mutation_p.K1094R|TNIK_uc003fho.2_Missense_Mutation_p.K1039R|TNIK_uc003fhg.2_Missense_Mutation_p.K309R|TNIK_uc003fhp.2_Missense_Mutation_p.K63R NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 1131 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GCCTTGTTTCTTTTCTACTTC 0.348000 ECT2 1894 broad.mit.edu 37 3 172533486 172533486 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:172533486A>C uc003fii.2 + 22 2538 c.2400A>C c.(2398-2400)AAA>AAC p.K800N ECT2_uc010hwv.1_Missense_Mutation_p.K831N|ECT2_uc003fih.2_Missense_Mutation_p.K799N|ECT2_uc003fij.1_Missense_Mutation_p.K800N|ECT2_uc003fik.1_Missense_Mutation_p.K800N|ECT2_uc003fil.1_Missense_Mutation_p.K831N|ECT2_uc003fim.1_Missense_Mutation_p.K99N NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 800 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|ovary(1)|skin(1) 4 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) GAGCAATAAAAAAGACTTCAA 0.303000 SPATA16 83893 broad.mit.edu 37 3 172835109 172835109 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:172835109T>G uc003fin.3 - 2 571 c.413A>C c.(412-414)GAG>GCG p.E138A NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 138 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) CTCTACAAACTCATAGCGAAC 0.428000 PIK3CA 5290 broad.mit.edu 37 3 178941911 178941911 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:178941911T>A uc003fjk.2 + 15 2387 c.2230T>A c.(2230-2232)TTC>ATC p.F744I NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 744 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 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) GCGACCAGATTTCATGGATGC 0.358000 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) PEX5L 51555 broad.mit.edu 37 3 179525470 179525470 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:179525470G>A uc003fki.1 - 14 1798 c.1668C>T c.(1666-1668)GGC>GGT p.G556G PEX5L_uc011bqd.1_Silent_p.G513G|PEX5L_uc011bqe.1_Silent_p.G364G|PEX5L_uc011bqf.1_Silent_p.G448G|PEX5L_uc003fkj.1_Silent_p.G521G|PEX5L_uc010hxd.1_Silent_p.G554G|PEX5L_uc011bqg.1_Silent_p.G532G|PEX5L_uc011bqh.1_Silent_p.G497G NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 556 TPR 5. protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) ACCTGTAGGCGCCCAGGTTGA 0.527000 MCCC1 56922 broad.mit.edu 37 3 182755192 182755192 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:182755192A>G uc003fle.2 - 13 1545 c.1408T>C c.(1408-1410)TTA>CTA p.L470L MCCC1_uc010hxi.2_Intron|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Silent_p.L353L|MCCC1_uc003flg.2_Silent_p.L361L|MCCC1_uc011bqp.1_Silent_p.L423L NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 470 Biotin carboxylation. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) AGGTTGAGTAAGAAGTCAATG 0.478000 ABCC5 10057 broad.mit.edu 37 3 183669329 183669329 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:183669329A>G uc003fmg.2 - 20 3009 c.2844T>C c.(2842-2844)CAT>CAC p.H948H ABCC5_uc011bqt.1_Silent_p.H476H|ABCC5_uc010hxl.2_Silent_p.H948H NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 948 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AAAGCTCGTCATGCAGCCGGG 0.567000 EPHB3 2049 broad.mit.edu 37 3 184294690 184294690 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:184294690A>C uc003foz.2 + 5 1510 c.1073A>C c.(1072-1074)GAG>GCG p.E358A NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 358 Fibronectin type-III 1.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) CTGATCCTCGAGTGGAGTGAG 0.602000 EPHB3 2049 broad.mit.edu 37 3 184297675 184297675 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:184297675A>C uc003foz.2 + 11 2562 c.2125A>C c.(2125-2127)ATC>CTC p.I709L NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 709 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GCCAGTTATGATCCTCACTGA 0.592000 IGF2BP2 10644 broad.mit.edu 37 3 185390359 185390359 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:185390359A>T uc003fpo.2 - 10 1249 c.1170T>A c.(1168-1170)GCT>GCA p.A390A IGF2BP2_uc010hyi.2_Silent_p.A333A|IGF2BP2_uc010hyj.2_Silent_p.A327A|IGF2BP2_uc010hyk.2_Silent_p.A254A|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Silent_p.A395A NM_006548 NP_006539 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding 390 anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity 0 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CAGCGGGGGGAGCTCCGCGGG 0.597000 ETV5 2119 broad.mit.edu 37 3 185766624 185766624 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:185766624T>G uc003fpz.2 - 13 1584 c.1337A>C c.(1336-1338)AAA>ACA p.K446T ETV5_uc003fpy.2_Missense_Mutation_p.K488T NM_004454 NP_004445 P41161 ETV5_HUMAN ets variant gene 5 (ets-related molecule) 446 ETS. cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2)|skin(2)|breast(1) 5 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) ACAGACAAATTTGTAGACGTA 0.572000 T TMPRSS2|SCL45A3 Prostate DNAJB11 51726 broad.mit.edu 37 3 186290034 186290034 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:186290034T>G uc003fqi.2 + 2 439 c.219T>G c.(217-219)GCT>GCG p.A73A TBCCD1_uc011bry.1_5'Flank|TBCCD1_uc003fqh.2_5'Flank NM_016306 NP_057390 Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 73 J. protein folding endoplasmic reticulum lumen heat shock protein binding ovary(1)|lung(1) 2 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) TGGGTGCTGCTTATGAGGTGA 0.418000 RPL39L 116832 broad.mit.edu 37 3 186839075 186839075 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:186839075T>A uc003fre.1 - 3 369 c.14A>T c.(13-15)AAG>ATG p.K5M RPL39L_uc003frf.1_RNA NM_052969 NP_443201 Q96EH5 RL39L_HUMAN ribosomal protein L39-like protein 5 spermatogenesis|translation cytosolic large ribosomal subunit structural constituent of ribosome 0 all_cancers(143;2.61e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.87e-18) GBM - Glioblastoma multiforme(93;0.0745) GGTGAAAGTCTTGTGAGAAGA 0.448000 TMEM207 131920 broad.mit.edu 37 3 190167579 190167579 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:190167579A>G uc003fsj.2 - 1 87 c.20T>C c.(19-21)TTC>TCC p.F7S NM_207316 NP_997199 Q6UWW9 TM207_HUMAN transmembrane protein 207 precursor 7 integral to membrane 0 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.0176) GGTGACACTGAAAAGTCTGGA 0.413000 ATP13A4 84239 broad.mit.edu 37 3 193156311 193156311 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:193156311A>C uc003ftd.2 - 23 2733 c.2625T>G c.(2623-2625)CCT>CCG p.P875P ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 875 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TGGAAGTGAAAGGTGAGGCCA 0.448000 ZDHHC19 131540 broad.mit.edu 37 3 195937536 195937536 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr3:195937536G>A uc003fwc.2 - 2 333 c.219C>T c.(217-219)TTC>TTT p.F73F ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_Intron|ZDHHC19_uc010iab.2_RNA NM_001039617 NP_001034706 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC domain containing 19 73 Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding ovary(3) 3 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) CAAGACTGAAGAAGGTAAGGA 0.552000 ZNF595 152687 broad.mit.edu 37 4 87142 87142 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:87142A>C uc003fzv.1 + 6 1904 c.1748A>C c.(1747-1749)AAG>ACG p.K583T ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.K351T|ZNF595_uc011but.1_Missense_Mutation_p.K351T NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 583 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) ACTAAACATAAGAGAATTCAT 0.378000 SLBP 7884 broad.mit.edu 37 4 1696553 1696553 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:1696553A>C uc003gdi.1 - 7 759 c.644T>G c.(643-645)CTT>CGT p.L215R SLBP_uc010ibx.1_Missense_Mutation_p.L222R|SLBP_uc003gdj.1_Missense_Mutation_p.L195R|SLBP_uc003gdk.1_Missense_Mutation_p.L176R|SLBP_uc011bvf.1_Missense_Mutation_p.L180R|SLBP_uc003gdl.1_Missense_Mutation_p.L132R NM_006527 NP_006518 Q14493 SLBP_HUMAN stem-loop (histone) binding protein 215 DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding 0 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.0055) TGCAGATTCAAGGTCTACAGG 0.493000 AFAP1 60312 broad.mit.edu 37 4 7774589 7774589 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:7774589C>T uc003gkg.1 - 15 2232 c.1959G>A c.(1957-1959)CTG>CTA p.L653L AFAP1_uc011bwk.1_Silent_p.L737L|LOC84740_uc003gkd.3_RNA NM_198595 NP_940997 Q8N556 AFAP1_HUMAN actin filament associated protein 1 653 actin cytoskeleton|cytoplasm|focal adhesion actin binding 0 TGGCCAGCCCCAGGGTGACTC 0.672000 CPZ 8532 broad.mit.edu 37 4 8621297 8621297 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:8621297T>C uc003glm.2 + 11 2038 c.1912T>C c.(1912-1914)TTC>CTC p.F638L CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.F501L|CPZ_uc003glo.2_Missense_Mutation_p.F627L|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 638 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 GTGGTCCTACTTCACATCGCT 0.701000 CD38 952 broad.mit.edu 37 4 15826541 15826541 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:15826541A>G uc011bxc.1 + 3 508 c.401A>G c.(400-402)CAG>CGG p.Q134R CD38_uc003goj.1_Missense_Mutation_p.Q134R|CD38_uc003gol.1_Missense_Mutation_p.Q134R NM_001775 NP_001766 P28907 CD38_HUMAN CD38 antigen 134 Extracellular (Potential). B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity ovary(2) 2 CTGGCCCATCAGTTCACACAG 0.378000 LAP3 51056 broad.mit.edu 37 4 17586723 17586723 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:17586723T>A uc003gph.1 + 6 830 c.668T>A c.(667-669)CTC>CAC p.L223H LAP3_uc010ieg.2_3'UTR NM_015907 NP_056991 P28838 AMPL_HUMAN leucine aminopeptidase 3 223 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding 0 GAGAAGAATCTCAAAAGTGCT 0.343000 LGI2 55203 broad.mit.edu 37 4 25028556 25028556 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:25028556A>C uc003grf.2 - 3 374 c.275T>G c.(274-276)CTG>CGG p.L92R NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 92 LRR 1. extracellular region 0 Breast(46;0.173) GTTAGAATTCAGCAATCTGAA 0.383000 RBPJ 3516 broad.mit.edu 37 4 26430438 26430438 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:26430438A>C uc003grx.1 + 9 1119 c.883A>C c.(883-885)AGA>CGA p.R295R RBPJ_uc003gry.1_Silent_p.R280R|RBPJ_uc003grz.1_Silent_p.R295R|RBPJ_uc011bxt.1_Silent_p.R295R|RBPJ_uc003gsa.1_Silent_p.R281R|RBPJ_uc003gsb.1_Silent_p.R282R|RBPJ_uc003gsc.1_Silent_p.R281R NM_005349 NP_005340 Q06330 SUH_HUMAN recombining binding protein suppressor of 295 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Breast(46;0.0503) GGATACAGAAAGAATGTATTT 0.333000 TLR10 81793 broad.mit.edu 37 4 38776650 38776650 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:38776650A>C uc003gti.2 - 2 941 c.562T>G c.(562-564)TTA>GTA p.L188V TLR10_uc003gtj.2_Missense_Mutation_p.L188V|TLR10_uc003gtk.2_Missense_Mutation_p.L188V NM_030956 NP_112218 Q9BXR5 TLR10_HUMAN toll-like receptor 10 precursor 188 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 GTTGTGTTTAAGATGGGCAGG 0.348000 RFC1 5981 broad.mit.edu 37 4 39301996 39301996 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:39301996T>C uc003gty.1 - 20 2711 c.2577A>G c.(2575-2577)GGA>GGG p.G859G RFC1_uc003gtx.1_Silent_p.G858G NM_002913 NP_002904 P35251 RFC1_HUMAN replication factor C large subunit 859 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 CAGTCTCCTCTCCAGCTGCAA 0.348000 RBM47 54502 broad.mit.edu 37 4 40439938 40439938 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:40439938A>G uc003gvc.2 - 4 1683 c.973T>C c.(973-975)TCG>CCG p.S325P RBM47_uc003gvd.2_Missense_Mutation_p.S325P|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.S287P|RBM47_uc003gvg.1_Missense_Mutation_p.S325P NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 325 nucleus nucleotide binding|RNA binding breast(3) 3 TGGTAGCGCGAGTACTGCTCC 0.662000 PHOX2B 8929 broad.mit.edu 37 4 41748224 41748224 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:41748224T>G uc003gwf.3 - 3 905 c.545A>C c.(544-546)GAC>GCC p.D182A NM_003924 NP_003915 Q99453 PHX2B_HUMAN paired-like homeobox 2b 182 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1) 12 TTTGCTCTCGTCGTCCCTGGA 0.647000 Mis|F neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome DCAF4L1 285429 broad.mit.edu 37 4 41984471 41984471 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:41984471T>G uc003gwk.2 + 1 759 c.662T>G c.(661-663)TTT>TGT p.F221C NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN WD repeat domain 21B 221 skin(1) 1 CAGCAGTCATTTGATACCAGC 0.552000 GABRB1 2560 broad.mit.edu 37 4 47322225 47322225 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:47322225T>A uc003gxh.2 + 5 917 c.543T>A c.(541-543)AGT>AGA p.S181R GABRB1_uc011bze.1_Missense_Mutation_p.S111R NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 181 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGATCGAAAGTTGTGAGTTAC 0.433000 LRRC66 339977 broad.mit.edu 37 4 52861969 52861969 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:52861969T>G uc003gzi.2 - 4 1232 c.1219A>C c.(1219-1221)AAA>CAA p.K407Q NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 407 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 TGGCACTTTTTTTGCCACAGT 0.557000 KDR 3791 broad.mit.edu 37 4 55962481 55962481 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:55962481A>G uc003has.2 - 19 2945 c.2643T>C c.(2641-2643)GCT>GCC p.A881A KDR_uc003hat.1_Silent_p.A881A NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 881 Protein kinase.|Cytoplasmic (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) CAGACATGAGAGCTCGATGCT 0.468000 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) MUC7 4589 broad.mit.edu 37 4 71346711 71346711 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:71346711T>G uc011cat.1 + 4 538 c.250T>G c.(250-252)TTC>GTC p.F84V MUC7_uc011cau.1_Missense_Mutation_p.F84V|MUC7_uc003hfj.2_Missense_Mutation_p.F84V|uc011cav.1_RNA NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 84 extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) CCCCCCCAAATTCCCAAATCC 0.463000 SLC4A4 8671 broad.mit.edu 37 4 72413427 72413427 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:72413427C>T uc003hfy.2 + 20 2801 c.2684C>T c.(2683-2685)CCC>CTC p.P895L SLC4A4_uc010iic.2_Missense_Mutation_p.P895L|SLC4A4_uc010iib.2_Intron|SLC4A4_uc003hfz.2_Missense_Mutation_p.P895L|SLC4A4_uc003hgc.3_Missense_Mutation_p.P851L|SLC4A4_uc010iid.2_Missense_Mutation_p.P99L NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 895 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TTTATGGCTCCCATCTTGAAG 0.388000 PARM1 25849 broad.mit.edu 37 4 75937967 75937967 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:75937967A>C uc003hih.1 + 2 616 c.376A>C c.(376-378)AGC>CGC p.S126R NM_015393 NP_056208 Q6UWI2 PARM1_HUMAN prostatic androgen-repressed message-1 126 Extracellular (Potential). positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane ovary(1) 1 GGAGGAACACAGCTCGGGCAC 0.587000 C4orf26 152816 broad.mit.edu 37 4 76489614 76489614 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:76489614A>C uc003hip.1 + 2 393 c.358A>C c.(358-360)AGA>CGA p.R120R C4orf26_uc011cbn.1_RNA|C4orf26_uc011cbo.1_Missense_Mutation_p.E134D NM_178497 NP_848592 Q17RF5 CD026_HUMAN hypothetical protein LOC152816 precursor 120 extracellular region 0 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CCCCAGAAGAAGACTCCAGAG 0.428000 CDKL2 8999 broad.mit.edu 37 4 76532367 76532367 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:76532367T>C uc003hiq.2 - 4 1067 c.542A>G c.(541-543)AAG>AGG p.K181R CDKL2_uc011cbp.1_Missense_Mutation_p.K181R|CDKL2_uc010iix.1_Intron NM_003948 NP_003939 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 181 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(2)|stomach(2)|breast(2)|skin(1) 7 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GATGTCTTACTTGCCATACTT 0.418000 CXCL10 3627 broad.mit.edu 37 4 76944543 76944543 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:76944543C>T uc003hjl.3 - 1 112 c.42G>A c.(40-42)CTG>CTA p.L14L ART3_uc003hji.2_Intron|ART3_uc003hjj.2_Intron|ART3_uc003hjk.2_Intron NM_001565 NP_001556 P02778 CXL10_HUMAN small inducible cytokine B10 precursor 14 blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation extracellular space cAMP-dependent protein kinase regulator activity|chemokine activity 0 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CACTTAGAGTCAGAAAGATAA 0.358000 ART3 419 broad.mit.edu 37 4 77003337 77003337 + Nonsense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:77003337A>T uc003hjo.2 + 3 549 c.430A>T c.(430-432)AGA>TGA p.R144* ART3_uc003hji.2_Nonsense_Mutation_p.R144*|ART3_uc003hjj.2_Nonsense_Mutation_p.R144*|ART3_uc003hjk.2_Nonsense_Mutation_p.R144*|ART3_uc010ija.1_Nonsense_Mutation_p.R144*|ART3_uc003hjn.2_Nonsense_Mutation_p.R144*|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Nonsense_Mutation_p.R114*|ART3_uc010ijc.2_Nonsense_Mutation_p.R114*|ART3_uc010ijd.2_Nonsense_Mutation_p.R114* NM_001130016 NP_001123488 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 isoform a 144 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity ovary(2) 2 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTACCTCACAAGAGCCCTGCA 0.443000 FRAS1 80144 broad.mit.edu 37 4 79308837 79308837 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:79308837A>C uc003hlb.2 + 29 4397 c.3957A>C c.(3955-3957)CAA>CAC p.Q1319H FRAS1_uc003hkw.2_Missense_Mutation_p.Q1319H NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1318 CSPG 3.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TACTGTTCCAAGTGAAGACCG 0.438000 FRAS1 80144 broad.mit.edu 37 4 79369367 79369367 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:79369367T>C uc003hlb.2 + 44 6611 c.6171T>C c.(6169-6171)ACT>ACC p.T2057T NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2056 CSPG 8.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TCTCCCTCACTGATGGCCTCC 0.542000 ANTXR2 118429 broad.mit.edu 37 4 80905052 80905052 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:80905052C>T uc003hlz.3 - 14 1922 c.1159G>A c.(1159-1161)GGA>AGA p.G387R ANTXR2_uc003hly.3_Missense_Mutation_p.G387R|ANTXR2_uc003hlx.1_RNA|ANTXR2_uc010ijn.2_Missense_Mutation_p.G284R NM_001145794 NP_001139266 P58335 ANTR2_HUMAN anthrax toxin receptor 2 isoform 2 387 Cytoplasmic (Potential). endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity ovary(1) 1 TTAATTCCTCCAACCCCTCGA 0.358000 Juvenile_Hyaline_Fibromatosis PRKG2 5593 broad.mit.edu 37 4 82088337 82088337 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:82088337T>G uc003hmh.2 - 5 904 c.890A>C c.(889-891)AAG>ACG p.K297T PRKG2_uc011cch.1_Missense_Mutation_p.K297T NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 297 cGMP 2. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 GTCAATGATCTTGGTTAATTT 0.249000 SCD5 79966 broad.mit.edu 37 4 83552614 83552614 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:83552614A>C uc003hna.2 - 5 1179 c.859T>G c.(859-861)TTT>GTT p.F287V NM_001037582 NP_001032671 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 isoform a 287 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity ovary(1) 1 Colorectal(4;0.0323)|Hepatocellular(203;0.115) TTTAAGCCAAATTCACTCGCA 0.483000 THAP9 79725 broad.mit.edu 37 4 83839152 83839152 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:83839152T>G uc003hnt.2 + 5 1906 c.1787T>G c.(1786-1788)GTC>GGC p.V596G THAP9_uc003hns.1_Missense_Mutation_p.V452G|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Missense_Mutation_p.V313G NM_024672 NP_078948 Q9H5L6 THAP9_HUMAN THAP domain containing 9 596 DNA binding|metal ion binding ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 5 Hepatocellular(203;0.114) TTCCCAAAGGTCATGCCTTTT 0.348000 HPSE 10855 broad.mit.edu 37 4 84222200 84222200 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:84222200T>C uc003hoj.3 - 11 1484 c.1385A>G c.(1384-1386)AAG>AGG p.K462R HPSE_uc010ika.2_Missense_Mutation_p.K404R|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.K205R|HPSE_uc011cct.1_Missense_Mutation_p.K388R|HPSE_uc003hok.3_Missense_Mutation_p.K462R NM_001098540 NP_001092010 Q9Y251 HPSE_HUMAN heparanase precursor 462 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) CCGCAAGTACTTGGTGACATT 0.348000 MAPK10 5602 broad.mit.edu 37 4 87022315 87022315 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:87022315T>G uc003hpq.2 - 7 687 c.620A>C c.(619-621)GAC>GCC p.D207A MAPK10_uc010ikg.2_Missense_Mutation_p.D169A|MAPK10_uc003hpr.2_Missense_Mutation_p.D169A|MAPK10_uc003hps.2_Missense_Mutation_p.D207A|MAPK10_uc003hpt.2_Missense_Mutation_p.D207A|MAPK10_uc003hpu.2_Missense_Mutation_p.D207A|MAPK10_uc003hpv.2_Missense_Mutation_p.D62A|MAPK10_uc003hpn.2_5'Flank|MAPK10_uc003hpo.2_Missense_Mutation_p.D62A|MAPK10_uc011ccw.1_Missense_Mutation_p.D93A|MAPK10_uc003hpp.2_Missense_Mutation_p.D62A NM_138982 NP_620448 P53779 MK10_HUMAN mitogen-activated protein kinase 10 isoform 2 207 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding stomach(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) CAGTCCAAAGTCCAGGATTTT 0.438000 PTPN13 5783 broad.mit.edu 37 4 87622548 87622548 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:87622548T>G uc003hpz.2 + 7 1269 c.789T>G c.(787-789)TCT>TCG p.S263S PTPN13_uc003hpy.2_Silent_p.S263S|PTPN13_uc003hqa.2_Silent_p.S263S|PTPN13_uc003hqb.2_Silent_p.S263S NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 263 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CAGATAATTCTGGACGTGAAG 0.368000 HSD17B13 345275 broad.mit.edu 37 4 88234976 88234976 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:88234976T>G uc003hqo.2 - 5 757 c.694A>C c.(694-696)AGA>CGA p.R232R HSD17B13_uc010ikk.2_Silent_p.R196R NM_178135 NP_835236 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 232 extracellular region binding|oxidoreductase activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) TGACCTTACCTTGTGCTTGGA 0.373000 DMP1 1758 broad.mit.edu 37 4 88583146 88583146 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:88583146A>G uc003hqv.2 + 6 320 c.216A>G c.(214-216)TCA>TCG p.S72S DMP1_uc003hqw.2_Silent_p.S56S NM_004407 NP_004398 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 isoform 1 72 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding pancreas(1)|skin(1) 2 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GCACTCAGTCAGAGGAGGGCC 0.473000 DMP1 1758 broad.mit.edu 37 4 88584170 88584170 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:88584170T>G uc003hqv.2 + 6 1344 c.1240T>G c.(1240-1242)TTC>GTC p.F414V DMP1_uc003hqw.2_Missense_Mutation_p.F398V NM_004407 NP_004398 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 isoform 1 414 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding pancreas(1)|skin(1) 2 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GAGCCTCAACTTCTCAGAGGA 0.572000 DMP1 1758 broad.mit.edu 37 4 88584322 88584322 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:88584322A>C uc003hqv.2 + 6 1496 c.1392A>C c.(1390-1392)GAA>GAC p.E464D DMP1_uc003hqw.2_Missense_Mutation_p.E448D NM_004407 NP_004398 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 isoform 1 464 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding pancreas(1)|skin(1) 2 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GATCCAAAGAAGATAGCAACT 0.488000 HERC6 55008 broad.mit.edu 37 4 89311919 89311919 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:89311919T>G uc011cdi.1 + 4 735 c.552T>G c.(550-552)GCT>GCG p.A184A HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_Silent_p.A184A|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 184 RCC1 3. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) TCCCACTGGCTCAGGTGGCTG 0.657000 ADH1B 125 broad.mit.edu 37 4 100232006 100232006 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:100232006T>G uc003hus.3 - 8 1103 c.1019A>C c.(1018-1020)AAG>ACG p.K340T ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.K300T|ADH1B_uc011ceh.1_Missense_Mutation_p.K185T|ADH1B_uc011cei.1_Missense_Mutation_p.K300T NM_000668 NP_000659 P00325 ADH1B_HUMAN class I alcohol dehydrogenase, beta subunit 340 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding ovary(1)|breast(1) 2 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) CAGTGAAAACTTCTTAGCCAT 0.358000 ADH1B 125 broad.mit.edu 37 4 100237376 100237376 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:100237376T>G uc003hus.3 - 4 427 c.343A>C c.(343-345)AAT>CAT p.N115H ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.N75H|ADH1B_uc011ceh.1_Intron|ADH1B_uc011cei.1_Missense_Mutation_p.N75H NM_000668 NP_000659 P00325 ADH1B_HUMAN class I alcohol dehydrogenase, beta subunit 115 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding ovary(1)|breast(1) 2 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) ACCTACTCATTTTTCAAGCAG 0.433000 DKK2 27123 broad.mit.edu 37 4 107846993 107846993 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:107846993T>C uc003hyi.2 - 2 1041 c.336A>G c.(334-336)CGA>CGG p.R112R DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Silent_p.R112R NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 112 DKK-type Cys-1. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space p.R112G(1) ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) ACATGCCATCTCGGTGGCAGC 0.498000 EGF 1950 broad.mit.edu 37 4 110862293 110862293 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:110862293A>C uc003hzy.3 + 2 771 c.319A>C c.(319-321)AGG>CGG p.R107R EGF_uc011cfu.1_Silent_p.R107R|EGF_uc011cfv.1_Silent_p.R107R NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 107 LDL-receptor class B 1.|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GAATGGGTCAAGGCAAGAGGT 0.323000 ANK2 287 broad.mit.edu 37 4 114278039 114278039 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:114278039A>C uc003ibe.3 + 38 8365 c.8265A>C c.(8263-8265)GAA>GAC p.E2755D ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.E57D|ANK2_uc011cgb.1_Missense_Mutation_p.E2770D NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2722 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTGAGGCTGAAGACAGGTCTT 0.458000 SEC24D 9871 broad.mit.edu 37 4 119666127 119666127 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:119666127T>G uc003ici.3 - 14 2068 c.1796A>C c.(1795-1797)AAA>ACA p.K599T SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.K600T|SEC24D_uc003icl.2_RNA NM_014822 NP_055637 O94855 SC24D_HUMAN Sec24-related protein D 599 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 AACCAGTTTTTTGTCATCTCT 0.393000 SYNPO2 171024 broad.mit.edu 37 4 119951776 119951776 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:119951776T>G uc003icm.3 + 4 2042 c.1846T>G c.(1846-1848)TTT>GTT p.F616V SYNPO2_uc010ina.2_Missense_Mutation_p.F616V|SYNPO2_uc010inb.2_Missense_Mutation_p.F616V|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.F544V NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 616 Pro-rich. nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 CATTGCTGACTTTCCTGCACC 0.587000 KIAA1109 84162 broad.mit.edu 37 4 123091861 123091861 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:123091861T>G uc003ieh.2 + 1 104 c.59T>G c.(58-60)CTT>CGT p.L20R NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 20 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GAAGATTTTCTTACAGAACAC 0.318000 IL21 59067 broad.mit.edu 37 4 123542014 123542014 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:123542014A>C uc003ies.2 - 1 198 c.153T>G c.(151-153)AAT>AAG p.N51K uc003iet.2_Intron|IL21_uc010int.2_Missense_Mutation_p.N44K NM_021803 NP_068575 Q9HBE4 IL21_HUMAN interleukin 21 44 cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding 0 CATTCACATAATTTTTCAGCT 0.343000 PHF17 79960 broad.mit.edu 37 4 129767570 129767570 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:129767570A>G uc003igk.2 + 4 459 c.179A>G c.(178-180)GAC>GGC p.D60G PHF17_uc003igj.2_Missense_Mutation_p.D60G|PHF17_uc003igl.2_Missense_Mutation_p.D60G|PHF17_uc011cgy.1_Missense_Mutation_p.D60G|PHF17_uc003igm.2_Missense_Mutation_p.D60G NM_199320 NP_955352 Q6IE81 JADE1_HUMAN PHD finger protein 17 long isoform 60 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding 0 AAGTTGCATGACTCCTACCAG 0.502000 SMARCA5 8467 broad.mit.edu 37 4 144468627 144468627 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:144468627A>G uc003ijg.2 + 21 3205 c.2743A>G c.(2743-2745)ATA>GTA p.I915V NM_003601 NP_003592 O60264 SMCA5_HUMAN SWI/SNF-related matrix-associated 915 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) TCAAAGAAGAATAAGCATCAA 0.383000 GYPA 2993 broad.mit.edu 37 4 144918742 144918742 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:144918742A>T uc003ijn.2 - 5 433 c.317T>A c.(316-318)ATT>AAT p.I106N GYPB_uc011chs.1_Intron|GYPB_uc011cht.1_RNA|GYPB_uc011chu.1_RNA|GYPB_uc010ioo.1_Intron|GYPB_uc010iop.2_RNA|GYPB_uc011chv.1_RNA|GYPB_uc011chw.1_Intron|GYPB_uc011chx.1_RNA|GYPB_uc003ijm.1_Missense_Mutation_p.I74N|GYPB_uc011chy.1_RNA|GYPB_uc011chz.1_Intron P02724 GLPA_HUMAN SubName: Full=Glycophorin MiX; Flags: Fragment; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2) 2 all_hematologic(180;0.15) CGTTCCAATAATACCAGCCAT 0.348000 NR3C2 4306 broad.mit.edu 37 4 149356384 149356384 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:149356384A>C uc003ilj.3 - 2 1963 c.1629T>G c.(1627-1629)TCT>TCG p.S543S NR3C2_uc003ilk.3_Silent_p.S543S|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 543 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) GGTGTTGGAAAGATTGGTCTC 0.473000 KIAA0922 23240 broad.mit.edu 37 4 154553945 154553945 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:154553945A>C uc003inm.3 + 32 4332 c.4280A>C c.(4279-4281)AAC>ACC p.N1427T KIAA0922_uc010ipp.2_Missense_Mutation_p.N1428T|KIAA0922_uc010ipq.2_Missense_Mutation_p.N1196T NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 1427 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) ACCCTGGAGAACGGCGTGCCT 0.537000 DCHS2 54798 broad.mit.edu 37 4 155243495 155243495 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:155243495A>T uc003inw.2 - 13 2799 c.2799T>A c.(2797-2799)GTT>GTA p.V933V NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 933 Cadherin 7. 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) GAATATTAACAACTGCCTGTC 0.353000 NPY2R 4887 broad.mit.edu 37 4 156135225 156135225 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:156135225A>G uc003ioq.2 + 2 629 c.134A>G c.(133-135)AAG>AGG p.K45R NPY2R_uc003ior.2_Missense_Mutation_p.K45R NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 45 Extracellular (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) GATAGTACCAAGCTGATTGAG 0.468000 HMGB2 3148 broad.mit.edu 37 4 174254250 174254250 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:174254250T>G uc011ckc.1 - 2 386 c.266A>C c.(265-267)AAA>ACA p.K89T HMGB2_uc003ita.3_Missense_Mutation_p.K89T|HMGB2_uc003itb.2_Missense_Mutation_p.K89T|HMGB2_uc003itc.2_Missense_Mutation_p.K89T NM_001130689 NP_001124161 P26583 HMGB2_HUMAN high-mobility group box 2 89 base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding 0 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) GGGGTCCTTTTTCTTCCCCTT 0.398000 FBXO8 26269 broad.mit.edu 37 4 175183927 175183927 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:175183927A>C uc003itp.2 - 2 1167 c.317T>G c.(316-318)CTT>CGT p.L106R FBXO8_uc003itq.2_Missense_Mutation_p.L65R NM_012180 NP_036312 Q9NRD0 FBX8_HUMAN F-box only protein 8 106 F-box. regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ARF guanyl-nucleotide exchange factor activity breast(2) 2 Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107) all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1) TTGCCAGAGAAGTTCATCATT 0.383000 STOX2 56977 broad.mit.edu 37 4 184938289 184938289 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:184938289A>C uc003ivz.1 + 4 4068 c.2633A>C c.(2632-2634)AAC>ACC p.N878T uc003iwb.1_5'Flank|STOX2_uc003iwa.1_3'UTR NM_020225 NP_064610 Q9P2F5 STOX2_HUMAN storkhead box 2 878 embryo development|maternal placenta development 0 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) GTTGAAAGTAACCGTCGTCAG 0.493000 ENPP6 133121 broad.mit.edu 37 4 185012349 185012349 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr4:185012349A>T uc003iwc.2 - 8 1446 c.1304T>A c.(1303-1305)CTT>CAT p.L435H NM_153343 NP_699174 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 435 Helical; (Potential). lipid catabolic process extracellular region|integral to membrane|plasma membrane central_nervous_system(1) 1 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) CAGGAAGAGAAGAATCAGTGC 0.527000 AHRR 57491 broad.mit.edu 37 5 432582 432582 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:432582A>C uc003jav.2 + 10 1023 c.979A>C c.(979-981)AAA>CAA p.K327Q AHRR_uc003jaw.2_Missense_Mutation_p.K305Q|AHRR_uc010isy.2_Missense_Mutation_p.K155Q|AHRR_uc010isz.2_Missense_Mutation_p.K305Q|AHRR_uc003jax.2_Missense_Mutation_p.K68Q|AHRR_uc003jay.2_Missense_Mutation_p.K165Q|AHRR_uc003jaz.2_5'UTR NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN arylhydrocarbon receptor repressor 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2) 2 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) TCACAGAGTAAAAGCCACCAC 0.398000 ADAMTS16 170690 broad.mit.edu 37 5 5319213 5319213 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:5319213A>G uc003jdl.2 + 23 3775 c.3637A>G c.(3637-3639)AAG>GAG p.K1213E NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 1213 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GTTCTACGGCAAGCAGTGCTG 0.517000 TAS2R1 50834 broad.mit.edu 37 5 9629253 9629253 + Missense_Mutation SNP A A C rs140442651 by1000genomes TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:9629253A>C uc003jem.1 - 1 1211 c.892T>G c.(892-894)TGT>GGT p.C298G NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 298 Cytoplasmic (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 TCTCACTGACAGCACTTACTG 0.413000 DNAH5 1767 broad.mit.edu 37 5 13876847 13876847 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:13876847T>C uc003jfd.2 - 22 3384 c.3342A>G c.(3340-3342)AAA>AAG p.K1114K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1114 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TTACAATCTCTTTGTTTTCAG 0.368000 Kartagener_syndrome DNAH5 1767 broad.mit.edu 37 5 13894825 13894825 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:13894825A>C uc003jfd.2 - 16 2407 c.2365T>G c.(2365-2367)TTG>GTG p.L789V NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 789 Potential.|Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AGTGCAGCCAAGCCAGGTTGG 0.413000 Kartagener_syndrome FAM105A 54491 broad.mit.edu 37 5 14602336 14602336 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:14602336A>C uc003jfj.2 + 5 506 c.393A>C c.(391-393)CGA>CGC p.R131R NM_019018 NP_061891 Q9NUU6 F105A_HUMAN hypothetical protein LOC54491 131 ovary(1) 1 Lung NSC(4;0.00592) AATGTGTTCGACAAGTAAGGA 0.353000 CDH9 1007 broad.mit.edu 37 5 26890056 26890056 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:26890056T>G uc003jgs.1 - 9 1570 c.1401A>C c.(1399-1401)AAA>AAC p.K467N CDH9_uc011cnv.1_Missense_Mutation_p.K60N NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 467 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 GGCTACTTTGTTTTGGGTTAT 0.383000 ADAMTS12 81792 broad.mit.edu 37 5 33684103 33684103 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:33684103T>G uc003jia.1 - 4 855 c.692A>C c.(691-693)AAC>ACC p.N231T ADAMTS12_uc010iuq.1_Missense_Mutation_p.N231T NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 231 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GCTTGGCAAGTTGTGCCTCTC 0.493000 HNSCC(64;0.19) SPEF2 79925 broad.mit.edu 37 5 35649522 35649522 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:35649522A>G uc003jjo.2 + 6 897 c.786A>G c.(784-786)AAA>AAG p.K262K SPEF2_uc003jjn.1_Silent_p.K262K|SPEF2_uc003jjq.3_Silent_p.K262K NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 262 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCCAAGCAAAAGAAAGGTGAG 0.323000 NIPBL 25836 broad.mit.edu 37 5 37010309 37010309 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:37010309A>C uc003jkl.3 + 21 5041 c.4542A>C c.(4540-4542)GAA>GAC p.E1514D NIPBL_uc003jkk.3_Missense_Mutation_p.E1514D NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1514 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CTAATGCAGAAGAAGATTCAA 0.318000 C5orf42 65250 broad.mit.edu 37 5 37179471 37179471 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:37179471A>C uc011cpa.1 - 29 6043 c.5812T>G c.(5812-5814)TTA>GTA p.L1938V C5orf42_uc011coy.1_Missense_Mutation_p.L438V|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.L1013V NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1938 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ACTTCTTCTAACTGCTGTGGT 0.299000 LIFR 3977 broad.mit.edu 37 5 38484884 38484884 + Nonsense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:38484884G>A uc010ive.1 - 18 2916 c.2584C>T c.(2584-2586)CGA>TGA p.R862* LIFR_uc003jli.2_Nonsense_Mutation_p.R862* NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 862 Cytoplasmic (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) TACCATTCTCGTTTCCGATAG 0.363000 T PLAG1 salivary adenoma MGC42105 167359 broad.mit.edu 37 5 43245956 43245956 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:43245956A>C uc003jno.2 + 2 960 c.79A>C c.(79-81)AGT>CGT p.S27R NM_153361 NP_699192 Q8IY84 NIM1_HUMAN serine/threonine-protein kinase NIM1 27 ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1) 9 CAGTGTAGAAAGTGGCTGTCA 0.597000 IPO11 51194 broad.mit.edu 37 5 61762980 61762980 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:61762980T>G uc003jtc.2 + 6 729 c.539T>G c.(538-540)TTT>TGT p.F180C IPO11_uc011cqr.1_Missense_Mutation_p.F220C|IPO11_uc003jtb.1_Missense_Mutation_p.F180C NM_016338 NP_057422 Q9UI26 IPO11_HUMAN Ran binding protein 11 isoform 2 180 cytoplasm|nucleus protein binding lung(2)|skin(2) 4 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) ATTTATAATTTTGCCTGCTCT 0.343000 SLC30A5 64924 broad.mit.edu 37 5 68423839 68423839 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:68423839A>C uc003jvh.2 + 15 2208 c.2007A>C c.(2005-2007)AAA>AAC p.K669N SLC30A5_uc003jvj.2_RNA|SLC30A5_uc003jvk.2_Intron NM_022902 NP_075053 Q8TAD4 ZNT5_HUMAN solute carrier family 30 (zinc transporter), 669 Cytoplasmic (Potential). cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane zinc ion binding|zinc ion transmembrane transporter activity central_nervous_system(1) 1 Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) AGATACAGAAAATTGAAGGAT 0.373000 RAD17 5884 broad.mit.edu 37 5 68687699 68687699 + Nonsense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:68687699A>T uc003jwo.2 + 10 1143 c.1081A>T c.(1081-1083)AAA>TAA p.K361* RAD17_uc003jwg.2_Nonsense_Mutation_p.K350*|RAD17_uc003jwh.2_Nonsense_Mutation_p.K350*|RAD17_uc003jwi.2_Nonsense_Mutation_p.K350*|RAD17_uc003jwj.2_Nonsense_Mutation_p.K350*|RAD17_uc003jwk.2_Nonsense_Mutation_p.K350*|RAD17_uc003jwl.2_Nonsense_Mutation_p.K350*|RAD17_uc003jwm.2_Nonsense_Mutation_p.K185*|RAD17_uc003jwn.2_Nonsense_Mutation_p.K264*|RAD17_uc003jwp.2_5'Flank NM_133339 NP_579917 O75943 RAD17_HUMAN RAD17 homolog isoform 2 361 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding 0 Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) AATGTCTTTAAAATCAGATGC 0.308000 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes BDP1 55814 broad.mit.edu 37 5 70818663 70818663 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:70818663A>C uc003kbp.1 + 24 5537 c.5274A>C c.(5272-5274)AAA>AAC p.K1758N BDP1_uc003kbo.2_Missense_Mutation_p.K1758N|BDP1_uc003kbq.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1758 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CTTTGGCAAAAATAGATGCGG 0.383000 ZNF366 167465 broad.mit.edu 37 5 71756638 71756638 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:71756638A>G uc003kce.1 - 2 872 c.686T>C c.(685-687)GTG>GCG p.V229A NM_152625 NP_689838 Q8N895 ZN366_HUMAN zinc finger protein 366 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) CACCCTCTCCACCTTCTGCTT 0.647000 POLK 51426 broad.mit.edu 37 5 74872668 74872668 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:74872668T>G uc003kdw.2 + 6 700 c.604T>G c.(604-606)TTG>GTG p.L202V POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kea.2_Missense_Mutation_p.L202V|POLK_uc003keb.2_Missense_Mutation_p.L202V|POLK_uc010izq.2_Missense_Mutation_p.L202V|POLK_uc003kec.2_Missense_Mutation_p.L112V|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.L112V|POLK_uc003kee.2_Missense_Mutation_p.L202V|POLK_uc003kef.2_Missense_Mutation_p.L112V NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 202 UmuC. DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) TGAAGCCTACTTGAATATAAC 0.333000 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage F2R 2149 broad.mit.edu 37 5 76029324 76029324 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:76029324C>T uc003ken.3 + 2 1539 c.1274C>T c.(1273-1275)ACT>ATT p.T425I NM_001992 NP_001983 P25116 PAR1_HUMAN coagulation factor II receptor precursor 425 Cytoplasmic (Potential). activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity ovary(3) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) AAGCTGTTAACTTAGGAAAAG 0.393000 WDR41 55255 broad.mit.edu 37 5 76732142 76732142 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:76732142T>C uc003kff.1 - 12 1458 c.1171A>G c.(1171-1173)ACT>GCT p.T391A WDR41_uc011csy.1_Missense_Mutation_p.T333A|WDR41_uc011csz.1_Missense_Mutation_p.T336A NM_018268 NP_060738 Q9HAD4 WDR41_HUMAN WD repeat domain 41 391 0 all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059) OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40) GAACATGAAGTAGCATTTTCT 0.398000 BHMT 635 broad.mit.edu 37 5 78426886 78426886 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:78426886A>G uc003kfu.3 + 8 1273 c.1168A>G c.(1168-1170)ACT>GCT p.T390A BHMT_uc011cti.1_Missense_Mutation_p.T237A NM_001713 NP_001704 Q93088 BHMT1_HUMAN betaine-homocysteine methyltransferase 390 protein methylation|regulation of homocysteine metabolic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding ovary(1) 1 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) AGAAGCCACAACTGAGCAGCA 0.463000 CMYA5 202333 broad.mit.edu 37 5 79025083 79025083 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:79025083A>C uc003kgc.2 + 2 567 c.495A>C c.(493-495)AAA>AAC p.K165N NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 165 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) CAACAAACAAAAAAGGCAGTC 0.388000 THBS4 7060 broad.mit.edu 37 5 79372825 79372825 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:79372825A>G uc003kgh.2 + 17 2363 c.2040A>G c.(2038-2040)CCA>CCG p.P680P uc003kgi.3_Intron NM_003248 NP_003239 P35443 TSP4_HUMAN thrombospondin 4 precursor 680 TSP type-3 7. 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) CCCCTGGACCAGACAACTGCC 0.582000 SPZ1 84654 broad.mit.edu 37 5 79616290 79616290 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:79616290T>G uc003kgn.2 + 1 501 c.256T>G c.(256-258)TTT>GTT p.F86V uc011ctk.1_RNA NM_032567 NP_115956 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 86 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(1) 1 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) TATGGCAGGTTTTGAAGAGAA 0.338000 TRIM36 55521 broad.mit.edu 37 5 114480405 114480405 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:114480405T>G uc003kqs.2 - 4 1170 c.661A>C c.(661-663)AAC>CAC p.N221H TRIM36_uc011cwc.1_Missense_Mutation_p.N209H|TRIM36_uc003kqt.2_Missense_Mutation_p.N66H NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN tripartite motif-containing 36 isoform 1 221 B box-type 2. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding ovary(4)|lung(2)|breast(2) 8 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) CAGTACATGTTTATTCTCTCT 0.378000 ATG12 9140 broad.mit.edu 37 5 115173356 115173356 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:115173356T>G uc003krh.2 - 2 519 c.410A>C c.(409-411)AAG>ACG p.K137T ATG12_uc003kri.2_Intron|ATG12_uc003krj.2_RNA NM_004707 NP_004698 O94817 ATG12_HUMAN APG12 autophagy 12-like 90 autophagic vacuole assembly|negative regulation of type I interferon production pre-autophagosomal structure membrane protein binding 0 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05) TTTAAGAAACTTTTTGATGAA 0.398000 HSD17B4 3295 broad.mit.edu 37 5 118829639 118829640 + Missense_Mutation DNP AA AA TG TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:118829639_118829640AA>TG uc003ksj.2 + 11 989_990 c.866_867AA>TG c.(865-867)CAA>CTG p.Q289L HSD17B4_uc011cwg.1_Missense_Mutation_p.Q265L|HSD17B4_uc011cwh.1_Missense_Mutation_p.Q271L|HSD17B4_uc011cwi.1_Missense_Mutation_p.Q314L|HSD17B4_uc003ksk.3_Missense_Mutation_p.Q142L|HSD17B4_uc011cwj.1_Missense_Mutation_p.Q142L|HSD17B4_uc010jcn.1_5'UTR NM_000414 NP_000405 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 289 (3R)-hydroxyacyl-CoA dehydrogenase. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity ovary(1)|pancreas(1) 2 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) CAGAGTATCCAAGGTAAAGAGA 0.441000 LOX 4015 broad.mit.edu 37 5 121413231 121413231 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:121413231T>G uc003ksu.2 - 1 825 c.450A>C c.(448-450)GAA>GAC p.E150D LOX_uc010jcq.2_5'Flank|LOX_uc011cwk.1_5'Flank|LOX_uc010jcr.2_5'Flank NM_002317 NP_002308 P28300 LYOX_HUMAN lysyl oxidase preproprotein 150 protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity lung(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) GCGCAGGAACTTCTCCCGGCG 0.647000 SNCAIP 9627 broad.mit.edu 37 5 121786636 121786636 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:121786636A>C uc003ksw.1 + 10 2300 c.2094A>C c.(2092-2094)CGA>CGC p.R698R SNCAIP_uc011cwl.1_Silent_p.R256R|SNCAIP_uc003ksx.1_Silent_p.R745R|SNCAIP_uc003ksy.1_Silent_p.R332R|SNCAIP_uc003ksz.1_Silent_p.R332R|SNCAIP_uc010jcu.2_Silent_p.R294R|SNCAIP_uc011cwm.1_Silent_p.R332R|SNCAIP_uc003kta.1_Silent_p.R330R|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Silent_p.R392R|SNCAIP_uc010jcx.1_Silent_p.R638R|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.R214R NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 698 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AGGCTGACCGACCAAGGCCGC 0.552000 ZNF608 57507 broad.mit.edu 37 5 124080350 124080350 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:124080350A>C uc003ktq.1 - 1 456 c.333T>G c.(331-333)ACT>ACG p.T111T ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Silent_p.T111T|ZNF608_uc003ktt.1_Silent_p.T111T NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 111 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) CATCCTTAGAAGTTTTACTCC 0.493000 GRAMD3 65983 broad.mit.edu 37 5 125819177 125819177 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:125819177A>T uc003ktu.2 + 9 1188 c.758A>T c.(757-759)GAT>GTT p.D253V GRAMD3_uc011cwt.1_Missense_Mutation_p.D268V|GRAMD3_uc011cwv.1_Missense_Mutation_p.D261V|GRAMD3_uc011cww.1_Missense_Mutation_p.D149V|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Missense_Mutation_p.D144V|GRAMD3_uc011cwz.1_Missense_Mutation_p.D237V|GRAMD3_uc011cwu.1_Missense_Mutation_p.D237V NM_023927 NP_076416 Q96HH9 GRAM3_HUMAN GRAM domain containing 3 isoform 2 253 central_nervous_system(1) 1 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) GAATTCTCAGATCTGGATGGA 0.428000 SLC12A2 6558 broad.mit.edu 37 5 127483312 127483312 + Splice_Site SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:127483312A>G uc003kus.2 + 11 1938 c.1774_splice c.e11-2 p.V592_splice SLC12A2_uc010jdf.2_Splice_Site|SLC12A2_uc010jdg.2_Splice_Site_p.V592_splice NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTTTTATTTAAGGTAATGAGT 0.353000 ADAMTS19 171019 broad.mit.edu 37 5 128862008 128862008 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:128862008A>C uc003kvb.1 + 4 927 c.927A>C c.(925-927)GCA>GCC p.A309A ADAMTS19_uc003kvc.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 309 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GAAAAATAGCAGAAAGTGGAA 0.353000 HSPA4 3308 broad.mit.edu 37 5 132431895 132431895 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:132431895T>G uc003kyj.2 + 14 2037 c.1756T>G c.(1756-1758)TTA>GTA p.L586V NM_002154 NP_002145 P34932 HSP74_HUMAN heat shock 70kDa protein 4 586 NQLL -> ESAI (in Ref. 4; AAA02807). cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding lung(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAATCAGCTATTATGGCAGAT 0.398000 CDKL3 51265 broad.mit.edu 37 5 133657596 133657596 + Splice_Site SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:133657596T>C uc003kzf.3 - 5 659 c.540_splice c.e5-1 p.K180_splice CDKL3_uc011cxm.1_Splice_Site|CDKL3_uc011cxn.1_Splice_Site|CDKL3_uc010jdw.2_Splice_Site|CDKL3_uc011cxo.1_Splice_Site|CDKL3_uc011cxp.1_Splice_Site|CDKL3_uc011cxq.1_Splice_Site|CDKL3_uc003kzg.3_Splice_Site_p.K180_splice|CDKL3_uc011cxr.1_Splice_Site_p.K180_splice NM_001113575 NP_001107047 Q8IVW4 CDKL3_HUMAN cyclin-dependent kinase-like 3 isoform 1 cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCCACAGGTCTGAAACAGATC 0.328000 TXNDC15 79770 broad.mit.edu 37 5 134223395 134223395 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:134223395A>C uc003lac.1 + 2 772 c.114A>C c.(112-114)GAA>GAC p.E38D TXNDC15_uc010jdy.1_Intron|TXNDC15_uc011cxv.1_RNA NM_024715 NP_078991 Q96J42 TXD15_HUMAN disulfide isomerase precursor 38 Extracellular (Potential). cell redox homeostasis integral to membrane ovary(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTGCAGAGGAAAGTGGTCGCT 0.507000 TRPC7 57113 broad.mit.edu 37 5 135567231 135567231 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:135567231T>G uc003lbn.1 - 7 1851 c.1848A>C c.(1846-1848)GAA>GAC p.E616D TRPC7_uc010jef.1_Missense_Mutation_p.E553D|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.E547D|TRPC7_uc010jei.1_Missense_Mutation_p.E492D|TRPC7_uc010jej.1_Missense_Mutation_p.E168D NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 617 Extracellular (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TAAAACTTTCTTCAACCCTGC 0.323000 FAM13B 51306 broad.mit.edu 37 5 137275969 137275969 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:137275969T>G uc003lbz.2 - 23 3227 c.2693A>C c.(2692-2694)AAG>ACG p.K898T FAM13B_uc003lcb.2_Missense_Mutation_p.K774T|FAM13B_uc003lca.2_Missense_Mutation_p.K870T|PKD2L2_uc003lbw.1_3'UTR|PKD2L2_uc003lbx.2_3'UTR|PKD2L2_uc003lby.2_Intron|PKD2L2_uc011cyi.1_3'UTR NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN hypothetical protein LOC51306 isoform 1 898 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 AAGCCTAAGCTTGGCTTTAAT 0.348000 PCDHA2 56146 broad.mit.edu 37 5 140175798 140175798 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140175798A>G uc003lhd.2 + 1 1355 c.1249A>G c.(1249-1251)AGC>GGC p.S417G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.S417G|PCDHA2_uc011czy.1_Missense_Mutation_p.S417G NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 417 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACCGCGAGAGCGTGTCAGC 0.627000 PCDHA4 56144 broad.mit.edu 37 5 140188288 140188288 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140188288A>T uc003lhi.2 + 1 1617 c.1516A>T c.(1516-1518)AGC>TGC p.S506C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.S506C|PCDHA4_uc011daa.1_Missense_Mutation_p.S506C NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 506 Cadherin 5.|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) CGCGCTGTCGAGCTACGTTTC 0.657000 PCDHA7 56141 broad.mit.edu 37 5 140214018 140214018 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140214018T>G uc003lhq.2 + 1 50 c.50T>G c.(49-51)TTT>TGT p.F17C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.F17C NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 17 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTACTGCTGTTTATTATAATT 0.512000 PCDHA12 56137 broad.mit.edu 37 5 140256514 140256514 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140256514A>C uc003lic.2 + 1 1584 c.1457A>C c.(1456-1458)AAG>ACG p.K486T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.K486T NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 486 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGCGCAGAAGAACGCGCTG 0.667000 PCDHB1 29930 broad.mit.edu 37 5 140431782 140431782 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140431782T>A uc003lik.1 + 1 804 c.727T>A c.(727-729)TCG>ACG p.S243T NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 243 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCCAGTTCTCGCGACTGGT 0.602000 PCDHB1 29930 broad.mit.edu 37 5 140431955 140431955 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140431955A>C uc003lik.1 + 1 977 c.900A>C c.(898-900)GAA>GAC p.E300D NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 300 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAAATGGAGAAGTTCGACTAA 0.463000 PCDHB9 56127 broad.mit.edu 37 5 140567302 140567302 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140567302A>C uc003liw.1 + 1 410 c.410A>C c.(409-411)GAG>GCG p.E137A NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 137 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCACAAAGAGATGGTCTTA 0.403000 PCDHB12 56124 broad.mit.edu 37 5 140590099 140590099 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140590099T>A uc003liz.2 + 1 1809 c.1620T>A c.(1618-1620)GCT>GCA p.A540A PCDHB12_uc011dak.1_Silent_p.A203A NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 540 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCCCCGGCTTTGAGCAGCG 0.692000 TAF7 6879 broad.mit.edu 37 5 140699524 140699524 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140699524T>G uc003ljg.2 - 1 828 c.88A>C c.(88-90)AGG>CGG p.R30R NM_005642 NP_005633 Q15545 TAF7_HUMAN TATA box-binding protein-associated factor 2F 30 negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTACTGCCCTTCTCACAGTA 0.463000 PCDHGA3 56112 broad.mit.edu 37 5 140725704 140725704 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140725704T>A uc003ljm.1 + 1 2104 c.2104T>A c.(2104-2106)TGC>AGC p.C702S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.C462S|PCDHGA3_uc011dap.1_Missense_Mutation_p.C702S NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 702 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGGTCTCCTGCGTCTTCCT 0.682000 PCDHGB4 8641 broad.mit.edu 37 5 140768320 140768320 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140768320T>G uc003lkc.1 + 1 869 c.869T>G c.(868-870)TTT>TGT p.F290C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.F290C NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 290 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCACCCAATTTGACCTGAAC 0.458000 PCDHGA8 9708 broad.mit.edu 37 5 140773688 140773688 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140773688T>C uc003lkd.1 + 1 2206 c.1308T>C c.(1306-1308)ACT>ACC p.T436T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.T436T NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 436 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACTGAAACTCAAATCGCTC 0.463000 PCDHGB5 56101 broad.mit.edu 37 5 140778113 140778113 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140778113T>C uc003lkf.1 + 1 419 c.419T>C c.(418-420)CTG>CCG p.L140P 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_uc011daw.1_Missense_Mutation_p.L140P NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 140 Extracellular (Potential).|Cadherin 2. 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) TCCTTTGAGCTGCAAATAAGT 0.413000 PCDHGB6 56100 broad.mit.edu 37 5 140788397 140788397 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140788397T>G uc003lkj.1 + 1 628 c.628T>G c.(628-630)TTG>GTG p.L210V 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_Missense_Mutation_p.L210V NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 210 Extracellular (Potential).|Cadherin 2. 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) ATCTCATAGCTTGATATTGAC 0.448000 PCDHGB6 56100 broad.mit.edu 37 5 140789877 140789877 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140789877T>A uc003lkj.1 + 1 2108 c.2108T>A c.(2107-2109)TTC>TAC p.F703Y 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_Missense_Mutation_p.F703Y|PCDHGA10_uc011day.1_5'Flank|PCDHGA10_uc003lkl.1_5'Flank NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 703 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGTGCTCTTCCTCCTCGCC 0.582000 PCDHGA10 56106 broad.mit.edu 37 5 140794709 140794709 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140794709C>T uc003lkl.1 + 1 1967 c.1967C>T c.(1966-1968)CCC>CTC p.P656L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.P656L|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 656 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGCCAGCCCCCTCTCTCC 0.682000 PCDHGA12 26025 broad.mit.edu 37 5 140811196 140811196 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:140811196A>G uc003lkt.1 + 1 1039 c.870A>G c.(868-870)CAA>CAG p.Q290Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.Q290Q NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 290 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCGGCCCAAGTTTTCAAAC 0.498000 SPRY4 81848 broad.mit.edu 37 5 141694376 141694376 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:141694376T>C uc003lml.2 - 2 557 c.298A>G c.(298-300)AGC>GGC p.S100G SPRY4_uc010jgi.1_Missense_Mutation_p.S123G NM_001127496 NP_001120968 Q9C004 SPY4_HUMAN sprouty homolog 4 isoform 2 100 Poly-Ser. multicellular organismal development cytoplasm|ruffle membrane protein binding ovary(1)|lung(1) 2 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCTGCTGCTCACAGAGCTG 0.682000 Testicular_Cancer_Familial_Clustering_of RBM27 54439 broad.mit.edu 37 5 145616914 145616914 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:145616914A>C uc003lnz.3 + 8 1364 c.1198A>C c.(1198-1200)AGT>CGT p.S400R RBM27_uc003lny.2_Missense_Mutation_p.S400R NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 400 Pro-rich. mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding central_nervous_system(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCTGGGACAAGTGCAGTGCC 0.428000 RBM27 54439 broad.mit.edu 37 5 145648801 145648801 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:145648801A>C uc003lnz.3 + 16 2649 c.2483A>C c.(2482-2484)AAA>ACA p.K828T RBM27_uc003lny.2_Missense_Mutation_p.K773T NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 828 Potential. mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding central_nervous_system(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GATATGAGGAAAAAAAGACAG 0.299000 DPYSL3 1809 broad.mit.edu 37 5 146798174 146798174 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:146798174A>C uc003lon.1 - 3 259 c.149T>G c.(148-150)ATT>AGT p.I50S DPYSL3_uc003loo.2_Missense_Mutation_p.I164S NM_001387 NP_001378 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 50 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAGGAACAATCAGATTGTC 0.398000 ARHGEF37 389337 broad.mit.edu 37 5 149003664 149003664 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:149003664A>G uc003lra.1 + 10 1489 c.1425A>G c.(1423-1425)CAA>CAG p.Q475Q NM_001001669 NP_001001669 A1IGU5 ARH37_HUMAN hypothetical protein LOC389337 475 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 GCTCCTTTCAAGAGACCTTTG 0.587000 GRIA1 2890 broad.mit.edu 37 5 153149895 153149895 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:153149895A>G uc003lva.3 + 13 2555 c.2190A>G c.(2188-2190)AAA>AAG p.K730K GRIA1_uc003luy.3_Silent_p.K730K|GRIA1_uc003luz.3_Silent_p.K635K|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Silent_p.K650K|GRIA1_uc011dcx.1_Silent_p.K661K|GRIA1_uc011dcy.1_Silent_p.K740K|GRIA1_uc011dcz.1_Silent_p.K740K NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 730 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGCAGCGGAAACCCTGTGACA 0.512000 RARS 5917 broad.mit.edu 37 5 167921609 167921609 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:167921609T>G uc003lzx.2 + 5 574 c.533T>G c.(532-534)CTT>CGT p.L178R RARS_uc011deo.1_5'UTR NM_002887 NP_002878 P54136 SYRC_HUMAN arginyl-tRNA synthetase 178 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|skin(1) 3 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TTGACCAGTCTTCTAGTGAAT 0.318000 SLIT3 6586 broad.mit.edu 37 5 168180908 168180908 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:168180908T>C uc003mab.2 - 17 2210 c.1790A>G c.(1789-1791)CAC>CGC p.H597R SLIT3_uc010jjg.2_Missense_Mutation_p.H597R NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 597 LRR 14. 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) CACGCGCCCGTGCACGGTCTC 0.617000 RANBP17 64901 broad.mit.edu 37 5 170669756 170669756 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:170669756T>G uc003mba.2 + 24 2724 c.2708T>G c.(2707-2709)ATC>AGC p.I903S RANBP17_uc003mbb.2_Missense_Mutation_p.I228S|RANBP17_uc003mbd.2_Missense_Mutation_p.I266S|RANBP17_uc010jjs.2_RNA NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 903 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATGAGCTTCATCATCAACTTA 0.423000 T TRD@ ALL C5orf41 153222 broad.mit.edu 37 5 172517706 172517706 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:172517706A>C uc003mch.2 + 4 828 c.524A>C c.(523-525)AAA>ACA p.K175T C5orf41_uc003mcg.2_Missense_Mutation_p.K175T|C5orf41_uc003mcf.2_Missense_Mutation_p.K175T|C5orf41_uc011dfd.1_Missense_Mutation_p.K175T NM_153607 NP_705835 Q8IUR6 CE041_HUMAN luman-recruiting factor 175 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTCCCTGGTAAAAAGATCACA 0.443000 C5orf25 375484 broad.mit.edu 37 5 175722138 175722138 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:175722138T>G uc003mds.3 + 5 1887 c.1480T>G c.(1480-1482)TTT>GTT p.F494V C5orf25_uc003mdt.3_Missense_Mutation_p.F79V|C5orf25_uc003mdr.3_RNA|C5orf25_uc011dfk.1_Missense_Mutation_p.F513V Q8NDZ2 CE025_HUMAN RecName: Full=Uncharacterized protein C5orf25; 494 0 all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) TTTGATGGACTTTGTGTCACC 0.453000 CDHR2 54825 broad.mit.edu 37 5 176011249 176011249 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:176011249A>G uc003mem.1 + 18 2183 c.2117A>G c.(2116-2118)GAG>GGG p.E706G CDHR2_uc003men.1_Missense_Mutation_p.E706G NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 706 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 ACGGTGAAGGAGGAGGATCCA 0.557000 GPRIN1 114787 broad.mit.edu 37 5 176024901 176024901 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:176024901T>C uc003meo.1 - 2 2110 c.1935A>G c.(1933-1935)CAA>CAG p.Q645Q NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN G protein-regulated inducer of neurite outgrowth 645 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) CAGCGCCCTCTTGCCCAGGGA 0.587000 HUS1B 135458 broad.mit.edu 37 6 656331 656331 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:656331T>G uc003mtg.2 - 1 634 c.614A>C c.(613-615)AAA>ACA p.K205T EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron NM_148959 NP_683762 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint protein B 205 0 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) TCCAAGATTTTTAAAATAACT 0.532000 RIOK1 83732 broad.mit.edu 37 6 7414622 7414622 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:7414622A>C uc003mxn.2 + 16 1769 c.1595A>C c.(1594-1596)AAA>ACA p.K532T RIOK1_uc003mxo.2_Missense_Mutation_p.K291T NM_031480 NP_113668 Q9BRS2 RIOK1_HUMAN RIO kinase 1 isoform 1 532 ATP binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|skin(1) 4 Ovarian(93;0.0418) ATTGATAAAAAAGTAAGCAAT 0.458000 MAK 4117 broad.mit.edu 37 6 10803970 10803970 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:10803970A>C uc003mzl.2 - 6 875 c.646T>G c.(646-648)TTA>GTA p.L216V SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.L216V|MAK_uc010jov.1_RNA NM_005906 NP_005897 P20794 MAK_HUMAN male germ cell-associated kinase 216 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|skin(1) 3 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) GGAGTCCCTAAAACTTGGCAA 0.348000 ATXN1 6310 broad.mit.edu 37 6 16327457 16327457 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:16327457A>T uc003nbt.2 - 8 2056 c.1085T>A c.(1084-1086)GTG>GAG p.V362E ATXN1_uc010jpi.2_Missense_Mutation_p.V362E|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 362 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CGGGTGGACCACCACGTGCCT 0.682000 KIF13A 63971 broad.mit.edu 37 6 17764753 17764753 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:17764753A>G uc003ncg.3 - 39 5111 c.5006T>C c.(5005-5007)CTC>CCC p.L1669P KIF13A_uc003ncf.2_Missense_Mutation_p.L1621P|KIF13A_uc003nch.3_Missense_Mutation_p.L1634P|KIF13A_uc003nci.3_Missense_Mutation_p.L1621P|KIF13A_uc003nce.1_Missense_Mutation_p.L220P NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 1669 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GTTTTCCTTGAGTGGCACCAC 0.473000 KDM1B 221656 broad.mit.edu 37 6 18213945 18213945 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:18213945T>C uc003nco.1 + 12 1508 c.1433T>C c.(1432-1434)TTT>TCT p.F478S KDM1B_uc003ncn.1_Missense_Mutation_p.F449S|KDM1B_uc003ncp.1_Missense_Mutation_p.F34S|KDM1B_uc003ncq.1_Missense_Mutation_p.F34S NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN amine oxidase (flavin containing) domain 1 681 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding skin(1) 1 GCTGACTTTTTTGGTCACGTT 0.463000 KIAA0319 9856 broad.mit.edu 37 6 24576688 24576688 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:24576688A>C uc011djo.1 - 10 1879 c.1642T>G c.(1642-1644)TTG>GTG p.L548V KIAA0319_uc011djp.1_Missense_Mutation_p.L503V|KIAA0319_uc003neh.1_Missense_Mutation_p.L548V|KIAA0319_uc011djq.1_Missense_Mutation_p.L539V|KIAA0319_uc011djr.1_Missense_Mutation_p.L548V|KIAA0319_uc010jpt.1_5'UTR NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 548 PKD 3.|Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 TTTCCATTCAAAGTGATGGAG 0.493000 KIAA0319 9856 broad.mit.edu 37 6 24581195 24581195 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:24581195T>G uc011djo.1 - 7 1475 c.1238A>C c.(1237-1239)AAC>ACC p.N413T KIAA0319_uc011djp.1_Missense_Mutation_p.N368T|KIAA0319_uc003neh.1_Missense_Mutation_p.N413T|KIAA0319_uc011djq.1_Missense_Mutation_p.N404T|KIAA0319_uc011djr.1_Missense_Mutation_p.N413T|KIAA0319_uc010jpt.1_5'UTR NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 413 PKD 1.|Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 TCCAAAGGCGTTTTCACTAGA 0.413000 OREG0017229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLC17A4 10050 broad.mit.edu 37 6 25773785 25773785 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:25773785A>C uc003nfe.2 + 8 989 c.870A>C c.(868-870)AAA>AAC p.K290N SLC17A4_uc011djx.1_Intron|SLC17A4_uc003nff.1_Missense_Mutation_p.K51N|SLC17A4_uc003nfg.2_Missense_Mutation_p.K227N|SLC17A4_uc010jqa.2_Missense_Mutation_p.K3N NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 290 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 CTATGATCAAATCCTTACCAC 0.463000 HIST1H1A 3024 broad.mit.edu 37 6 26017925 26017925 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:26017925A>G uc003nfo.2 - 1 116 c.36T>C c.(34-36)TCT>TCC p.S12S HIST1H3A_uc003nfp.1_5'Flank NM_005325 NP_005316 Q02539 H11_HUMAN histone cluster 1, H1a 12 nucleosome assembly|spermatogenesis nucleosome|nucleus DNA binding ovary(2) 2 CAGGAGCAGCAGAAGCGGCGG 0.527000 OREG0017237 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HIST1H4B 8366 broad.mit.edu 37 6 26027235 26027235 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:26027235G>A uc003nfr.2 - 1 246 c.246C>T c.(244-246)GTC>GTT p.V82V NM_003544 NP_003535 P62805 H4_HUMAN histone cluster 1, H4b 82 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 CCATGGCAGTGACAGTCTTGC 0.532000 OREG0017238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) BTN3A1 11119 broad.mit.edu 37 6 26405873 26405873 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:26405873T>C uc003nhv.2 + 2 450 c.82T>C c.(82-84)TCA>CCA p.S28P BTN3A1_uc011dkj.1_Missense_Mutation_p.S28P|BTN3A1_uc011dkk.1_Missense_Mutation_p.S28P|BTN3A1_uc010jqj.2_Missense_Mutation_p.S28P NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a 28 lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 CATGCCTCACTCAGGTAGGGA 0.468000 OR14J1 442191 broad.mit.edu 37 6 29275414 29275414 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:29275414A>G uc011dln.1 + 1 948 c.948A>G c.(946-948)AAA>AAG p.K316K NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 316 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 tgtgcttaaaagccatgttta 0.289000 MOG 4340 broad.mit.edu 37 6 29627367 29627367 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:29627367A>C uc003nnf.2 + 2 538 c.360A>C c.(358-360)TCA>TCC p.S120S MOG_uc003qzk.1_Silent_p.S120S|MOG_uc010kle.1_Intron|MOG_uc010klf.1_Intron|MOG_uc003nmy.1_Silent_p.S120S|MOG_uc003nmz.2_Silent_p.S120S|MOG_uc011dlt.1_Silent_p.S50S|MOG_uc003nna.2_Intron|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_Silent_p.S120S|MOG_uc003nne.2_Silent_p.S120S|MOG_uc003nng.2_Silent_p.S120S|MOG_uc003nnh.2_Silent_p.S120S|MOG_uc003nni.2_Silent_p.S120S|MOG_uc003nnj.2_Silent_p.S120S|MOG_uc003nnk.2_Silent_p.S120S NM_206809 NP_996532 Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein isoform 120 Ig-like V-type.|Extracellular (Potential). cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane ovary(1) 1 TAAGGTTCTCAGATGAAGGAG 0.473000 TRIM39 56658 broad.mit.edu 37 6 30297161 30297161 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:30297161T>G uc010jrz.2 + 3 379 c.67T>G c.(67-69)TTA>GTA p.L23V HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39_uc003npz.2_Missense_Mutation_p.L23V|TRIM39_uc003nqb.2_Missense_Mutation_p.L23V|TRIM39_uc003nqc.2_Missense_Mutation_p.L23V|TRIM39_uc010jsa.1_Missense_Mutation_p.L23V NM_021253 NP_067076 Q9HCM9 TRI39_HUMAN tripartite motif-containing 39 isoform 1 23 apoptosis cytosol|mitochondrion identical protein binding|zinc ion binding ovary(3) 3 TTTGGAGAACTTACAGGTGGA 0.532000 TRIM39 56658 broad.mit.edu 37 6 30297387 30297387 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:30297387A>G uc010jrz.2 + 3 605 c.293A>G c.(292-294)AAG>AGG p.K98R HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39_uc003npz.2_Missense_Mutation_p.K98R|TRIM39_uc003nqb.2_Missense_Mutation_p.K98R|TRIM39_uc003nqc.2_Missense_Mutation_p.K98R|TRIM39_uc010jsa.1_Missense_Mutation_p.K98R NM_021253 NP_067076 Q9HCM9 TRI39_HUMAN tripartite motif-containing 39 isoform 1 98 apoptosis cytosol|mitochondrion identical protein binding|zinc ion binding ovary(3) 3 CAGGCCGTCAAGCGGAAGATC 0.547000 GTF2H4 2968 broad.mit.edu 37 6 30879519 30879519 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:30879519A>C uc003nsa.1 + 9 1007 c.800A>C c.(799-801)GAG>GCG p.E267A GTF2H4_uc010jsf.2_Missense_Mutation_p.E267A|GTF2H4_uc011dmv.1_Missense_Mutation_p.E211A|GTF2H4_uc003nsb.1_Missense_Mutation_p.E105A|GTF2H4_uc011dmw.1_Missense_Mutation_p.E273A|VARS2_uc003nsc.1_5'Flank|VARS2_uc003nsd.2_5'Flank|VARS2_uc011dmx.1_5'Flank|VARS2_uc011dmy.1_5'Flank|VARS2_uc011dmz.1_5'Flank NM_001517 NP_001508 Q92759 TF2H4_HUMAN general transcription factor IIH, polypeptide 4, 267 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 CATCTGCGTGAGTTTGGGCTT 0.488000 NER HLA-B 3106 broad.mit.edu 37 6 31323279 31323279 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:31323279A>C uc003nth.2 - 4 764 c.710T>G c.(709-711)ATC>AGC p.I237S HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.I116S|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA NM_005514 NP_005505 P01889 1B07_HUMAN major histocompatibility complex, class I, B 237 Alpha-3.|Ig-like C1-type.|Extracellular (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity 0 GGTCAGTGTGATCTCCGCAGG 0.597000 Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of LTA 4049 broad.mit.edu 37 6 31541078 31541078 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:31541078T>C uc011dnu.1 + 4 439 c.226T>C c.(226-228)TCA>CCA p.S76P LTA_uc003nue.1_Missense_Mutation_p.S76P|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Missense_Mutation_p.S23P|LTA_uc003nug.2_Missense_Mutation_p.S23P|LTA_uc010jsr.2_Intron|TNF_uc003nui.2_5'Flank NM_001159740 NP_001153212 P01374 TNFB_HUMAN lymphotoxin alpha precursor 76 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding 0 Etanercept(DB00005) CAAGCAGAACTCACTGCTCTG 0.567000 MDGA1 266727 broad.mit.edu 37 6 37606368 37606368 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:37606368T>A uc003onu.1 - 15 3791 c.2612A>T c.(2611-2613)AAG>ATG p.K871M MDGA1_uc003onv.1_Missense_Mutation_p.K140M NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN MAM domain containing 871 MAM. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2) 2 CACATTGCCCTTATTGCCACT 0.652000 DNAH8 1769 broad.mit.edu 37 6 38825338 38825338 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:38825338A>C uc003ooe.1 + 40 5727 c.5127A>C c.(5125-5127)GAA>GAC p.E1709D 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 ACGATTCAGAAGAGGCTTTAC 0.358000 MOCS1 4337 broad.mit.edu 37 6 39874134 39874134 + Nonstop_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:39874134T>G uc003opb.2 - 10 2048 c.1910A>C c.(1909-1911)TAG>TCG p.*637S MOCS1_uc003opa.2_3'UTR|MOCS1_uc003opc.2_Nonstop_Mutation_p.*621S|MOCS1_uc003opd.2_3'UTR|MOCS1_uc003ope.2_Nonstop_Mutation_p.*534S NM_005942 NP_005933 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis-step 1 protein 637 Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding ovary(1)|liver(1)|central_nervous_system(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) GGGCAGGTGCTAAGCCCGATG 0.552000 APOBEC2 10930 broad.mit.edu 37 6 41029181 41029181 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:41029181A>T uc003opl.2 + 2 393 c.246A>T c.(244-246)CAA>CAT p.Q82H UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_Intron NM_006789 NP_006780 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 82 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding 0 Ovarian(28;0.0418)|Colorectal(47;0.196) AGGGGGGCCAAGTGCAGGCAT 0.557000 C6orf130 221443 broad.mit.edu 37 6 41037846 41037846 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:41037846A>G uc003opm.2 - 4 384 c.212T>C c.(211-213)CTG>CCG p.L71P UNC5CL_uc010jxe.1_5'UTR|C6orf130_uc010jxg.2_Missense_Mutation_p.L71P|C6orf130_uc003opn.2_Missense_Mutation_p.L71P|C6orf130_uc010jxh.1_Missense_Mutation_p.L71P|NFYA_uc003opo.2_5'Flank|NFYA_uc003opp.2_5'Flank NM_145063 NP_659500 Q9Y530 CF130_HUMAN hypothetical protein LOC221443 71 Macro. 0 Ovarian(28;0.0418)|Colorectal(47;0.196) ATCTCTCTTCAGAACAGCCAC 0.313000 PEX6 5190 broad.mit.edu 37 6 42934394 42934394 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:42934394A>C uc003otf.2 - 10 2056 c.1963T>G c.(1963-1965)TTG>GTG p.L655V PEX6_uc010jya.2_RNA NM_000287 NP_000278 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 655 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1) 1 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) CCACCTGCCAAACTGCAAAGA 0.582000 SLC22A7 10864 broad.mit.edu 37 6 43267175 43267175 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:43267175T>G uc003out.2 + 3 546 c.447T>G c.(445-447)ACT>ACG p.T149T SLC22A7_uc010jyl.1_Silent_p.T147T|SLC22A7_uc003ous.2_Silent_p.T147T NM_153320 NP_696961 Q9Y694 S22A7_HUMAN solute carrier family 22 member 7 isoform b 149 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity 0 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CTGCGTCCACTTTCTTCTTCG 0.572000 AARS2 57505 broad.mit.edu 37 6 44269806 44269806 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:44269806T>G uc010jza.1 - 19 2592 c.2589A>C c.(2587-2589)CAA>CAC p.Q863H SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 863 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CCTGTCCCATTTGCAGCTTAC 0.602000 CYP39A1 51302 broad.mit.edu 37 6 46620249 46620249 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:46620249T>C uc003oyf.1 - 1 275 c.71A>G c.(70-72)AAG>AGG p.K24R CYP39A1_uc011dwa.1_Missense_Mutation_p.K24R|CYP39A1_uc010jzd.1_5'UTR|SLC25A27_uc011dwb.1_5'Flank|SLC25A27_uc003oyg.2_5'Flank|SLC25A27_uc003oyh.2_5'Flank|SLC25A27_uc011dwc.1_5'Flank NM_016593 NP_057677 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, 24 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(1) 1 ACGCAAATTCTTCCGCTGAAG 0.453000 TDRD6 221400 broad.mit.edu 37 6 46657408 46657408 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:46657408A>G uc003oyj.2 + 1 1543 c.1543A>G c.(1543-1545)AAG>GAG p.K515E TDRD6_uc010jze.2_Missense_Mutation_p.K509E NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 515 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) CACCTTCAGTAAGCTGATGAG 0.423000 GPR111 222611 broad.mit.edu 37 6 47649717 47649717 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:47649717A>G uc010jzj.1 + 6 1423 c.1422A>G c.(1420-1422)CAA>CAG p.Q474Q GPR111_uc010jzk.1_Silent_p.Q406Q|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 474 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 TCTGGAGCCAAGTGACAAAGA 0.453000 OPN5 221391 broad.mit.edu 37 6 47763080 47763080 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:47763080C>T uc003ozc.2 + 4 542 c.537C>T c.(535-537)TTC>TTT p.F179F OPN5_uc003ozd.2_Silent_p.F14F NM_181744 NP_859528 Q6U736 OPN5_HUMAN opsin 5 isoform 1 179 Extracellular (Potential). phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 CTGAGCCCTTCGGAACCTCGT 0.607000 PKHD1 5314 broad.mit.edu 37 6 51524683 51524683 + Missense_Mutation SNP A A C rs145268428 TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:51524683A>C uc003pah.1 - 61 10517 c.10241T>G c.(10240-10242)ATT>AGT p.I3414S NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3414 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GCTATCAAGAATTAGGACCAC 0.368000 DST 667 broad.mit.edu 37 6 56328444 56328444 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:56328444A>G uc003pdf.2 - 94 16477 c.16449T>C c.(16447-16449)GCT>GCC p.A5483A DST_uc003pcz.3_Silent_p.A5305A|DST_uc011dxj.1_Silent_p.A5334A|DST_uc011dxk.1_Silent_p.A5345A|DST_uc003pcy.3_Silent_p.A4979A|DST_uc003pcv.3_Silent_p.A101A|DST_uc003pcw.3_Silent_p.A62A|DST_uc003pcx.3_Silent_p.A62A NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 7415 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) TGTTGGGTGAAGCGCCTCGTG 0.592000 PHF3 23469 broad.mit.edu 37 6 64422746 64422746 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:64422746T>A uc003pep.1 + 15 5288 c.5262T>A c.(5260-5262)TTT>TTA p.F1754L PHF3_uc003pen.2_Missense_Mutation_p.F1666L|PHF3_uc011dxs.1_Missense_Mutation_p.F1023L NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1754 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TGCACCCATTTCGAAGAGGAT 0.393000 RIMS1 22999 broad.mit.edu 37 6 73108029 73108029 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:73108029A>C uc003pga.2 + 32 4774 c.4697A>C c.(4696-4698)AAG>ACG p.K1566T RIMS1_uc011dyb.1_Missense_Mutation_p.K963T|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Missense_Mutation_p.K886T|RIMS1_uc011dyc.1_Missense_Mutation_p.K691T|RIMS1_uc010kar.2_Missense_Mutation_p.K634T|RIMS1_uc011dyd.1_Missense_Mutation_p.K700T|RIMS1_uc003pgf.2_Missense_Mutation_p.K566T|RIMS1_uc003pgg.2_Missense_Mutation_p.K462T|RIMS1_uc003pgi.2_Missense_Mutation_p.K382T|RIMS1_uc003pgh.2_Missense_Mutation_p.K433T|RIMS1_uc003pgd.2_Missense_Mutation_p.K632T|RIMS1_uc003pge.2_Missense_Mutation_p.K606T|RIMS1_uc011dye.1_Missense_Mutation_p.K372T|RIMS1_uc011dyf.1_Missense_Mutation_p.K190T|RIMS1_uc011dyg.1_Missense_Mutation_p.K93T NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1566 C2 2. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CTCACACAAAAGCCTGGTTCC 0.393000 KCNQ5 56479 broad.mit.edu 37 6 73904333 73904333 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:73904333T>G uc003pgk.2 + 14 2342 c.1995T>G c.(1993-1995)GAT>GAG p.D665E KCNQ5_uc011dyh.1_Missense_Mutation_p.D684E|KCNQ5_uc011dyi.1_Missense_Mutation_p.D675E|KCNQ5_uc010kat.2_Missense_Mutation_p.D656E|KCNQ5_uc011dyj.1_Missense_Mutation_p.D555E|KCNQ5_uc011dyk.1_Missense_Mutation_p.D415E NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 665 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) ATAGCAAAGATCTTTCGGGTT 0.493000 KCNQ5 56479 broad.mit.edu 37 6 73904995 73904995 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:73904995T>C uc003pgk.2 + 14 3004 c.2657T>C c.(2656-2658)TTT>TCT p.F886S KCNQ5_uc011dyh.1_Missense_Mutation_p.F905S|KCNQ5_uc011dyi.1_Missense_Mutation_p.F896S|KCNQ5_uc010kat.2_Missense_Mutation_p.F877S|KCNQ5_uc011dyj.1_Missense_Mutation_p.F776S|KCNQ5_uc011dyk.1_Missense_Mutation_p.F636S NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 886 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) ACAGACACTTTTGATGCCGCA 0.502000 TPBG 7162 broad.mit.edu 37 6 83075691 83075691 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:83075691A>C uc003pjn.3 + 3 1949 c.1013A>C c.(1012-1014)AAC>ACC p.N338T TPBG_uc010kbj.2_Missense_Mutation_p.N338T|TPBG_uc003pjo.2_Missense_Mutation_p.N338T NM_006670 NP_006661 Q13641 TPBG_HUMAN trophoblast glycoprotein precursor 338 Extracellular (Potential).|LRRCT. cell adhesion integral to plasma membrane central_nervous_system(1) 1 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) TTGGAACTCAACAGTGCTGAC 0.512000 RARS2 57038 broad.mit.edu 37 6 88231202 88231202 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:88231202A>C uc003pme.2 - 12 1075 c.1015T>G c.(1015-1017)TTT>GTT p.F339V RARS2_uc003pmb.2_Missense_Mutation_p.F164V|RARS2_uc003pmc.2_Missense_Mutation_p.F164V|RARS2_uc003pmd.2_Translation_Start_Site|RARS2_uc003pmf.2_RNA NM_020320 NP_064716 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 339 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) ATTGTATCAAAATTATACTTG 0.343000 MDN1 23195 broad.mit.edu 37 6 90368543 90368543 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:90368543T>A uc003pnn.1 - 89 14923 c.14807A>T c.(14806-14808)CAG>CTG p.Q4936L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 4936 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CTGTGGACTCTGACTTTCGTT 0.493000 PRDM13 59336 broad.mit.edu 37 6 100062409 100062409 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:100062409A>C uc003pqg.1 + 4 2159 c.1898A>C c.(1897-1899)GAG>GCG p.E633A NM_021620 NP_067633 Q9H4Q3 PRD13_HUMAN PR domain containing 13 633 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) TACCGCTGCGAGTTCTGCGGC 0.657000 MICAL1 64780 broad.mit.edu 37 6 109770629 109770629 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:109770629T>C uc003ptj.2 - 10 1744 c.1490A>G c.(1489-1491)AAG>AGG p.K497R MICAL1_uc003ptk.2_Missense_Mutation_p.K497R|MICAL1_uc010kdr.2_Missense_Mutation_p.K411R|MICAL1_uc011eaq.1_Missense_Mutation_p.K516R NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 497 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) TGTATCTGTCTTGTCGTTGTT 0.592000 CDK19 23097 broad.mit.edu 37 6 110988698 110988698 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:110988698A>C uc003puh.1 - 4 468 c.395T>G c.(394-396)CTT>CGT p.L132R CDK19_uc003pui.1_Missense_Mutation_p.L72R NM_015076 NP_055891 Q9BWU1 CDK19_HUMAN cell division cycle 2-like 6 (CDK8-like) 132 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 AATCTGGTAAAGTAAGGATTT 0.313000 KIAA1919 91749 broad.mit.edu 37 6 111588294 111588294 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:111588294A>G uc003puv.3 + 4 1951 c.1529A>G c.(1528-1530)GAA>GGA p.E510G NM_153369 NP_699200 Q5TF39 NAGT1_HUMAN sodium-dependent glucose transporter 1 510 Cytoplasmic (Potential). carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(3) 3 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) CACTTGCCAGAAACCAGGACA 0.438000 RFPL4B 442247 broad.mit.edu 37 6 112671189 112671189 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:112671189T>C uc003pvx.1 + 3 591 c.279T>C c.(277-279)TTT>TTC p.F93F NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 93 B30.2/SPRY. zinc ion binding 0 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) TCCGGCATTTTCGGGAGGATG 0.522000 HS3ST5 222537 broad.mit.edu 37 6 114379073 114379073 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:114379073T>G uc003pwg.3 - 2 421 c.389A>C c.(388-390)GAG>GCG p.E130A uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.E130A NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 130 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) ACCATAATTCTCATCATTATC 0.433000 GPRC6A 222545 broad.mit.edu 37 6 117113360 117113360 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:117113360T>A uc003pxj.1 - 6 2748 c.2726A>T c.(2725-2727)GAA>GTA p.E909V GPRC6A_uc003pxk.1_Missense_Mutation_p.E734V|GPRC6A_uc003pxl.1_Missense_Mutation_p.E838V NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 909 Cytoplasmic (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGTGGCATTTTCCCTGCATAT 0.423000 GPRC6A 222545 broad.mit.edu 37 6 117128056 117128056 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:117128056A>C uc003pxj.1 - 3 834 c.812T>G c.(811-813)GTT>GGT p.V271G GPRC6A_uc003pxk.1_Splice_Site_p.Q270_splice|GPRC6A_uc003pxl.1_Missense_Mutation_p.V271G NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 271 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AATGACATTAACCTGGGCTTC 0.348000 TRMT11 60487 broad.mit.edu 37 6 126333946 126333946 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:126333946A>C uc003qam.2 + 10 1076 c.955A>C c.(955-957)AGA>CGA p.R319R TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Silent_p.R319R NM_001031712 NP_001026882 Q7Z4G4 TRM11_HUMAN tRNA methyltransferase 11 319 tRNA processing methyltransferase activity|nucleic acid binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0356) ATCTACAAGAAGAACAGGTTC 0.383000 ENPP3 5169 broad.mit.edu 37 6 132014759 132014759 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:132014759T>C uc003qcu.3 + 16 1754 c.1407T>C c.(1405-1407)GCT>GCC p.A469A ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.A469A NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 469 Extracellular (Potential).|Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) AGTGGCTGGCTGTTAGGTTCG 0.398000 ALDH8A1 64577 broad.mit.edu 37 6 135239997 135239997 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:135239997A>C uc003qew.2 - 7 1073 c.1020T>G c.(1018-1020)AGT>AGG p.S340R ALDH8A1_uc003qex.2_Missense_Mutation_p.S286R|ALDH8A1_uc010kgh.2_Missense_Mutation_p.S118R|ALDH8A1_uc011ecx.1_Missense_Mutation_p.S290R NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8A1 isoform 1 340 retinal metabolic process cytoplasm retinal dehydrogenase activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) TCTTGACGTAACTTCTGACCT 0.458000 GRM1 2911 broad.mit.edu 37 6 146351241 146351241 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:146351241T>G uc010khw.1 + 2 1058 c.588T>G c.(586-588)ACT>ACG p.T196T GRM1_uc010khu.1_Silent_p.T196T|GRM1_uc010khv.1_Silent_p.T196T|GRM1_uc003qll.2_Silent_p.T196T|GRM1_uc011edz.1_Silent_p.T196T|GRM1_uc011eea.1_Silent_p.T196T NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 196 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GTGACAAAACTTTGTACAAAT 0.493000 GRM1 2911 broad.mit.edu 37 6 146755850 146755850 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:146755850A>C uc010khw.1 + 9 3973 c.3503A>C c.(3502-3504)GAG>GCG p.E1168A GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 1168 Ser-rich.|Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCGTGTCCGAGTCGGTGCTC 0.632000 TAB2 23118 broad.mit.edu 37 6 149699164 149699164 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:149699164A>T uc003qmj.2 + 3 291 c.113A>T c.(112-114)AAC>ATC p.N38I TAB2_uc011eec.1_Missense_Mutation_p.N6I|TAB2_uc010kia.1_Missense_Mutation_p.N38I|TAB2_uc010kib.1_Missense_Mutation_p.N38I|TAB2_uc003qmk.3_RNA NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN mitogen-activated protein kinase kinase kinase 7 38 CUE. activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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 cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding 0 AATAATAATAACCTGGATGCC 0.338000 RAET1E 135250 broad.mit.edu 37 6 150209679 150209679 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:150209679T>G uc003qnl.1 - 4 807 c.747A>C c.(745-747)CAA>CAC p.Q249H uc003qni.1_Intron|RAET1E_uc003qnj.2_Intron|RAET1E_uc003qnk.1_Missense_Mutation_p.Q213H|RAET1E_uc010kih.1_RNA NM_139165 NP_631904 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E precursor 249 Cytoplasmic (Potential). antigen processing and presentation|immune response|regulation of immune response integral to membrane|MHC class I protein complex protein binding 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) ACTCACCATTTTGCCACCAGA 0.507000 PLEKHG1 57480 broad.mit.edu 37 6 151152705 151152705 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:151152705T>G uc003qny.1 + 16 2770 c.2458T>G c.(2458-2460)TTG>GTG p.L820V PLEKHG1_uc011eel.1_Missense_Mutation_p.L860V|PLEKHG1_uc011eem.1_Missense_Mutation_p.L879V|PLEKHG1_uc003qnz.2_Missense_Mutation_p.L820V NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 820 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CAGTGGTAACTTGTCTATGCC 0.458000 SERAC1 84947 broad.mit.edu 37 6 158537312 158537312 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:158537312T>C uc003qrc.2 - 14 1548 c.1406A>G c.(1405-1407)AAG>AGG p.K469R SERAC1_uc003qrb.2_Missense_Mutation_p.K197R NM_032861 NP_116250 Q96JX3 SRAC1_HUMAN serine active site containing 1 469 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds 0 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) TGCAATGGACTTTCTGAACAA 0.433000 FNDC1 84624 broad.mit.edu 37 6 159653494 159653494 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:159653494T>G uc010kjv.2 + 11 2150 c.1950T>G c.(1948-1950)GAT>GAG p.D650E FNDC1_uc010kjw.1_Missense_Mutation_p.D535E NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 650 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) CAGACGAAGATGAGCGCGCTG 0.687000 LPA 4018 broad.mit.edu 37 6 160953592 160953592 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:160953592G>A uc003qtl.2 - 39 6052 c.5932C>T c.(5932-5934)CAT>TAT p.H1978Y NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4486 Peptidase S1. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CTGGCCAAATGCTCAGCACAA 0.458000 LPA 4018 broad.mit.edu 37 6 161022106 161022106 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:161022106T>C uc003qtl.2 - 20 3090 c.2970A>G c.(2968-2970)CGA>CGG p.R990R NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3498 Kringle 31. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GATCTGGATTTCGGCAGTAGT 0.448000 UNC93A 54346 broad.mit.edu 37 6 167717594 167717594 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:167717594A>C uc003qvq.2 + 5 988 c.813A>C c.(811-813)CAA>CAC p.Q271H UNC93A_uc003qvr.2_Missense_Mutation_p.Q229H NM_018974 NP_061847 Q86WB7 UN93A_HUMAN unc-93 homolog A isoform 1 271 Helical; (Potential). integral to membrane|plasma membrane 0 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GATTGCAGCAAGGATTCCTCT 0.358000 FOXK1 221937 broad.mit.edu 37 7 4800889 4800889 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:4800889C>T uc003snc.1 + 8 1901 c.1891C>T c.(1891-1893)CCC>TCC p.P631S FOXK1_uc003sna.1_Missense_Mutation_p.P468S NM_001037165 NP_001032242 P85037 FOXK1_HUMAN forkhead box K1 631 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding upper_aerodigestive_tract(1)|skin(1) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) GCATGCGGTTCCCACGAACAG 0.637000 WIPI2 26100 broad.mit.edu 37 7 5254322 5254322 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:5254322A>C uc003snv.2 + 4 584 c.368A>C c.(367-369)AAG>ACG p.K123T WIPI2_uc003snw.2_Missense_Mutation_p.K123T|WIPI2_uc003snx.2_Missense_Mutation_p.K105T|WIPI2_uc003sny.2_Missense_Mutation_p.K105T|WIPI2_uc010ksv.2_5'UTR|WIPI2_uc003snz.2_Missense_Mutation_p.K64T|WIPI2_uc003soa.2_Missense_Mutation_p.K64T NM_015610 NP_056425 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 123 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding ovary(2) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) CTGGCTGTGAAGCTCAACAGG 0.567000 PMS2 5395 broad.mit.edu 37 7 6026899 6026899 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:6026899A>C uc003spl.2 - 11 1584 c.1497T>G c.(1495-1497)ACT>ACG p.T499T PMS2_uc003spj.2_Silent_p.T393T|PMS2_uc003spk.2_Silent_p.T364T|PMS2_uc011jwl.1_Silent_p.T364T|PMS2_uc010ktg.2_Silent_p.T188T|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Silent_p.T499T NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform 499 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) AATCCACGGAAGTGCTGCCGT 0.632000 Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome USP42 84132 broad.mit.edu 37 7 6193751 6193751 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:6193751A>G uc011jwo.1 + 15 2689 c.2566A>G c.(2566-2568)AGT>GGT p.S856G USP42_uc011jwp.1_Missense_Mutation_p.S856G|USP42_uc011jwq.1_Missense_Mutation_p.S663G|USP42_uc011jwr.1_Missense_Mutation_p.S701G NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 856 Pro-rich. cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) GGAAGGGTTGAGTCCGGCTCC 0.701000 FAM126A 84668 broad.mit.edu 37 7 22999995 22999995 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:22999995T>G uc003svm.3 - 10 1126 c.871A>C c.(871-873)ATG>CTG p.M291L FAM126A_uc003svn.3_Missense_Mutation_p.M147L NM_032581 NP_115970 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 291 cytoplasm|membrane signal transducer activity central_nervous_system(1) 1 TTAGATTTCATGGGACCATGA 0.363000 HOXA9 3205 broad.mit.edu 37 7 27204678 27204678 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:27204678T>G uc003syt.2 - 1 472 c.399A>C c.(397-399)AAA>AAC p.K133N NM_152739 NP_689952 P31269 HXA9_HUMAN homeobox A9 133 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1) 2 GCGGTTCAGGTTTAATGCCAT 0.627000 T NUP98|MSI2 AML* TAX1BP1 8887 broad.mit.edu 37 7 27832746 27832746 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:27832746T>G uc003szl.2 + 10 1483 c.1325T>G c.(1324-1326)CTT>CGT p.L442R TAX1BP1_uc011jzo.1_Missense_Mutation_p.L442R|TAX1BP1_uc003szk.2_Missense_Mutation_p.L442R|TAX1BP1_uc011jzp.1_Missense_Mutation_p.L285R NM_006024 NP_006015 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) 442 Potential. anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1) 1 GBM - Glioblastoma multiforme(3;0.0823) AAACTCCGTCTTCAGATGGCT 0.323000 C7orf16 10842 broad.mit.edu 37 7 31735091 31735091 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:31735091T>G uc003tcl.2 + 3 249 c.91T>G c.(91-93)TCA>GCA p.S31A C7orf16_uc011kaf.1_Intron NM_006658 NP_006649 O96001 GSUB_HUMAN G-substrate isoform 1 31 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(11;0.216) AGATGATCTTTCAGACCAGTT 0.363000 ANLN 54443 broad.mit.edu 37 7 36463463 36463463 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:36463463A>G uc003tff.2 + 15 2718 c.2514A>G c.(2512-2514)GCA>GCG p.A838A ANLN_uc011kaz.1_Silent_p.A750A|ANLN_uc003tfg.2_Silent_p.A801A|ANLN_uc010kxe.2_Silent_p.A800A NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 838 Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 TACTAAAAGCAGGAGCTGAAA 0.333000 GLI3 2737 broad.mit.edu 37 7 42005617 42005617 + Silent SNP C C A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:42005617C>A uc011kbh.1 - 15 3145 c.3054G>T c.(3052-3054)CTG>CTT p.L1018L GLI3_uc011kbg.1_Silent_p.L959L NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1018 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GCACACGAGGCAGGGCCAGGC 0.726000 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome GLI3 2737 broad.mit.edu 37 7 42005620 42005620 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:42005620G>A uc011kbh.1 - 15 3142 c.3051C>T c.(3049-3051)GCC>GCT p.A1017A GLI3_uc011kbg.1_Silent_p.A958A NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1017 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CACGAGGCAGGGCCAGGCCCT 0.726000 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome MRPL32 64983 broad.mit.edu 37 7 42977040 42977040 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:42977040A>T uc003tia.2 + 3 479 c.432A>T c.(430-432)CAA>CAT p.Q144H MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_Missense_Mutation_p.Q91H NM_031903 NP_114109 Q9BYC8 RM32_HUMAN mitochondrial ribosomal protein L32 precursor 144 translation large ribosomal subunit|mitochondrial ribosome structural constituent of ribosome 0 TAGGGAAGCAAGAAGGGGGCC 0.498000 UBE2D4 51619 broad.mit.edu 37 7 43978042 43978042 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:43978042T>C uc003tja.1 + 2 122 c.37T>C c.(37-39)TTG>CTG p.L13L UBE2D4_uc003tjb.1_5'UTR NM_015983 NP_057067 Q9Y2X8 UB2D4_HUMAN ubiquitin-conjugating enzyme E2D 4 (putative) 13 protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination ATP binding|protein binding|ubiquitin-protein ligase activity 0 ATTAACCGACTTGCAGAGGGA 0.488000 POLD2 5425 broad.mit.edu 37 7 44156474 44156474 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:44156474A>C uc010kxz.2 - 7 1372 c.722T>G c.(721-723)GTT>GGT p.V241G POLD2_uc003tke.3_Missense_Mutation_p.V241G|POLD2_uc010kya.2_Missense_Mutation_p.V241G|POLD2_uc003tkf.3_Missense_Mutation_p.V241G NM_006230 NP_006221 P49005 DPOD2_HUMAN DNA-directed DNA polymerase delta 2 241 base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|protein binding ovary(2) 2 AGCGAGGATAACCCGGGAGAC 0.652000 CAMK2B 816 broad.mit.edu 37 7 44260282 44260282 + Silent SNP C C T rs71743307 TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:44260282C>T uc003tkq.2 - 22 1911 c.1701G>A c.(1699-1701)TCG>TCA p.S567S CAMK2B_uc003tkp.2_Silent_p.S443S|CAMK2B_uc003tkx.2_Silent_p.S403S|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Silent_p.S419S|CAMK2B_uc003tks.2_Silent_p.S418S|CAMK2B_uc003tku.2_Silent_p.S404S|CAMK2B_uc003tkv.2_Silent_p.S380S|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Silent_p.S350S|CAMK2B_uc010kyc.2_Silent_p.S443S|CAMK2B_uc003tkn.2_Silent_p.S200S NM_001220 NP_001211 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II 567 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1)|ovary(1) 2 CAGGCTCAAACGAGGTCAGCC 0.617000 HUS1 3364 broad.mit.edu 37 7 48007476 48007476 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:48007476T>G uc003tod.1 - 7 817 c.687A>C c.(685-687)GAA>GAC p.E229D HUS1_uc003toe.1_Missense_Mutation_p.E229D|HUS1_uc011kce.1_RNA NM_004507 NP_004498 O60921 HUS1_HUMAN HUS1 checkpoint protein 229 DNA damage checkpoint|DNA replication Golgi apparatus|nucleolus|nucleoplasm protein binding ovary(2)|lung(2)|kidney(1) 5 Breast(660;0.00139) CTATGTGCACTTCAGCCATGT 0.418000 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes SUN3 256979 broad.mit.edu 37 7 48056918 48056918 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:48056918T>C uc003tof.2 - 4 326 c.229A>G c.(229-231)AAA>GAA p.K77E SUN3_uc003tog.2_Missense_Mutation_p.K77E|SUN3_uc011kcf.1_Missense_Mutation_p.K65E NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 77 integral to membrane central_nervous_system(1) 1 TGTCTGGATTTCTGAGGAACA 0.289000 ABCA13 154664 broad.mit.edu 37 7 48318068 48318068 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:48318068T>G uc003toq.2 + 18 7302 c.7277T>G c.(7276-7278)CTT>CGT p.L2426R ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2426 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ATGGCAAGACTTCTGGATACA 0.378000 ABCA13 154664 broad.mit.edu 37 7 48319207 48319207 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:48319207A>C uc003toq.2 + 18 8441 c.8416A>C c.(8416-8418)AAT>CAT p.N2806H ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2806 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TTTGAGTCAGAATATAACTCA 0.333000 ZPBP 11055 broad.mit.edu 37 7 50057857 50057857 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:50057857T>G uc003tou.2 - 6 832 c.762A>C c.(760-762)GAA>GAC p.E254D ZPBP_uc011kci.1_Missense_Mutation_p.E180D|ZPBP_uc010kyw.2_Missense_Mutation_p.E253D NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 254 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) TTTTGTAAGGTTCACAGTTAT 0.333000 STAG3L4 64940 broad.mit.edu 37 7 66773968 66773968 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:66773968A>C uc003tvt.3 + 3 401 c.134A>C c.(133-135)AAG>ACG p.K45T STAG3L4_uc010laj.2_RNA NM_022906 NP_075057 Q8TBR4 STG34_HUMAN stromal antigen 3-like 4 45 0 Lung NSC(55;0.0839)|all_lung(88;0.181) TCCTGGAAGAAGTTCCAGGGC 0.498000 PCLO 27445 broad.mit.edu 37 7 82785475 82785475 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:82785475T>G uc003uhx.2 - 2 771 c.482A>C c.(481-483)AAC>ACC p.N161T PCLO_uc003uhv.2_Missense_Mutation_p.N161T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 161 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ACTTAAAGCGTTAACCTCTGA 0.398000 CROT 54677 broad.mit.edu 37 7 87022280 87022280 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:87022280T>G uc003uit.2 + 17 1860 c.1615T>G c.(1615-1617)TTT>GTT p.F539V CROT_uc003uiu.2_Missense_Mutation_p.F567V NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 539 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) AGGTGGAAATTTTGTTCTCTC 0.383000 ABCB4 5244 broad.mit.edu 37 7 87072685 87072685 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:87072685T>C uc003uiv.1 - 12 1382 c.1306A>G c.(1306-1308)AGC>GGC p.S436G ABCB4_uc003uiw.1_Missense_Mutation_p.S436G|ABCB4_uc003uix.1_Missense_Mutation_p.S436G NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 436 ABC transporter 1.|Cytoplasmic (By similarity).|ATP 1 (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) ACCGTTGTGCTCTTCCCACAG 0.507000 ZNF804B 219578 broad.mit.edu 37 7 88962900 88962900 + Missense_Mutation SNP C C A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:88962900C>A uc011khi.1 + 4 1142 c.604C>A c.(604-606)CAG>AAG p.Q202K NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 202 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GTTTGGAAATCAGGTACTGCA 0.388000 HNSCC(36;0.09) CYP51A1 1595 broad.mit.edu 37 7 91753068 91753068 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:91753068A>C uc003ulm.3 - 6 1032 c.870T>G c.(868-870)ACT>ACG p.T290T CYP51A1_uc011khn.1_Silent_p.T185T|CYP51A1_uc003uln.3_Silent_p.T227T NM_000786 NP_000777 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, 284 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) CATCTAGTAAAGTTTGGAGAA 0.353000 SAMD9 54809 broad.mit.edu 37 7 92733452 92733452 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:92733452T>C uc003umf.2 - 3 2215 c.1959A>G c.(1957-1959)GAA>GAG p.E653E SAMD9_uc003umg.2_Silent_p.E653E NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 653 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CACAGATAATTTCCAGAGCAG 0.363000 TAC1 6863 broad.mit.edu 37 7 97362037 97362037 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:97362037A>C uc003uop.3 + 2 359 c.113A>C c.(112-114)GAC>GCC p.D38A TAC1_uc003uoq.3_Missense_Mutation_p.D38A|TAC1_uc003uor.3_Missense_Mutation_p.D38A|TAC1_uc003uos.3_Missense_Mutation_p.D38A NM_003182 NP_003173 P20366 TKN1_HUMAN tachykinin 1 isoform beta precursor 38 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space 0 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) TACGACAGCGACCAGATCAAG 0.557000 TAC1 6863 broad.mit.edu 37 7 97363046 97363046 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:97363046G>A uc003uop.3 + 3 381 c.135G>A c.(133-135)CCG>CCA p.P45P TAC1_uc003uoq.3_Silent_p.P45P|TAC1_uc003uor.3_Silent_p.P45P|TAC1_uc003uos.3_Silent_p.P45P NM_003182 NP_003173 P20366 TKN1_HUMAN tachykinin 1 isoform beta precursor 45 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space 0 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) AGGAACTGCCGGAGCCCTTTG 0.597000 LMTK2 22853 broad.mit.edu 37 7 97820058 97820058 + Silent SNP T T G rs150799700 TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:97820058T>G uc003upd.1 + 10 1310 c.1017T>G c.(1015-1017)CTT>CTG p.L339L NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 339 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GTGTGACACTTTGGGAGCTTT 0.418000 LMTK2 22853 broad.mit.edu 37 7 97821396 97821396 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:97821396T>G uc003upd.1 + 11 1912 c.1619T>G c.(1618-1620)TTT>TGT p.F540C NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 540 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GTTCCTGTTTTTGATGCCCAC 0.493000 LMTK2 22853 broad.mit.edu 37 7 97821440 97821440 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:97821440T>G uc003upd.1 + 11 1956 c.1663T>G c.(1663-1665)TTA>GTA p.L555V NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 555 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TTATATCCAGTTAGAAGAAAA 0.502000 C7orf51 222950 broad.mit.edu 37 7 100084688 100084688 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:100084688C>T uc003uvd.1 + 3 472 c.313C>T c.(313-315)CTC>TTC p.L105F C7orf51_uc003uve.1_5'Flank NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 105 skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAGTGGGGGCCTCACAGAGGA 0.721000 FBXO24 26261 broad.mit.edu 37 7 100190480 100190480 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:100190480A>C uc003uvm.1 + 5 926 c.633A>C c.(631-633)GAA>GAC p.E211D FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Missense_Mutation_p.E197D|FBXO24_uc003uvn.1_5'UTR|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Missense_Mutation_p.E249D|FBXO24_uc011kka.1_Missense_Mutation_p.E199D NM_033506 NP_277041 O75426 FBX24_HUMAN F-box only protein 24 isoform 1 211 ubiquitin ligase complex ubiquitin-protein ligase activity ovary(3)|skin(1) 4 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AGCCGCAGGAAGTGGTGGGTA 0.562000 MUC17 140453 broad.mit.edu 37 7 100680229 100680229 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:100680229A>T uc003uxp.1 + 3 5585 c.5532A>T c.(5530-5532)GCA>GCT p.A1844A MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1844 Extracellular (Potential).|Ser-rich.|29.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CTTCTACAGCAGTCAGTTCAT 0.502000 MUC17 140453 broad.mit.edu 37 7 100680882 100680882 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:100680882A>C uc003uxp.1 + 3 6238 c.6185A>C c.(6184-6186)AAC>ACC p.N2062T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2062 Extracellular (Potential).|32.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCTGAGGGTAACACCCTTTCA 0.493000 MOGAT3 346606 broad.mit.edu 37 7 100841487 100841487 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:100841487A>C uc003uyc.2 - 5 820 c.653T>G c.(652-654)CTG>CGG p.L218R MOGAT3_uc010lhr.2_Missense_Mutation_p.L218R NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 218 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity ovary(2) 2 Lung NSC(181;0.168)|all_lung(186;0.215) CCTCAGCGCCAGGCGCACGAA 0.637000 LRWD1 222229 broad.mit.edu 37 7 102109080 102109080 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:102109080C>T uc003uzn.2 + 8 1137 c.999C>T c.(997-999)CAC>CAT p.H333H LRWD1_uc003uzo.2_Silent_p.H181H NM_152892 NP_690852 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain 333 chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding skin(1) 1 TCGTGCTCCACAAGTACAAGG 0.637000 FBXL13 222235 broad.mit.edu 37 7 102608482 102608482 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:102608482G>A uc003vaq.2 - 7 1005 c.578C>T c.(577-579)TCA>TTA p.S193L FBXL13_uc010liq.1_Missense_Mutation_p.S8L|FBXL13_uc010lir.1_Missense_Mutation_p.S193L|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.S193L|FBXL13_uc003vav.2_RNA NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 193 F-box. 0 ATTCCACAGTGAGTTTAGTTG 0.373000 RELN 5649 broad.mit.edu 37 7 103185604 103185604 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:103185604T>C uc003vca.2 - 42 6650 c.6490A>G c.(6490-6492)AAA>GAA p.K2164E RELN_uc010liz.2_Missense_Mutation_p.K2164E NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2164 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCAGGATTTTTGGTGCTTATT 0.373000 COG5 10466 broad.mit.edu 37 7 107198467 107198467 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:107198467T>G uc003ved.2 - 2 806 c.281A>C c.(280-282)AAA>ACA p.K94T COG5_uc003vec.2_Missense_Mutation_p.K94T|COG5_uc003vee.2_Missense_Mutation_p.K94T NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform 94 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 TTGGGCAAGTTTTGCTAGTTG 0.363000 LAMB1 3912 broad.mit.edu 37 7 107564421 107564421 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:107564421A>C uc003vew.2 - 34 5671 c.5336T>G c.(5335-5337)GTT>GGT p.V1779G LAMB1_uc003vev.2_Missense_Mutation_p.V1803G|LAMB1_uc003veu.2_Missense_Mutation_p.V262G NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1779 Potential.|Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATACACAGCAACTTTCTGGCT 0.353000 LAMB4 22798 broad.mit.edu 37 7 107720140 107720140 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:107720140A>G uc010ljo.1 - 15 1877 c.1793T>C c.(1792-1794)TTT>TCT p.F598S LAMB4_uc003vey.2_Missense_Mutation_p.F598S NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 598 Laminin IV type B. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 AACCCTGGCAAATCCAGGTCC 0.517000 DOCK4 9732 broad.mit.edu 37 7 111509658 111509658 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:111509658C>T uc003vfx.2 - 21 2350 c.2081G>A c.(2080-2082)CGG>CAG p.R694Q DOCK4_uc003vfw.2_Missense_Mutation_p.R135Q|DOCK4_uc003vfy.2_Missense_Mutation_p.R694Q|DOCK4_uc003vga.1_Missense_Mutation_p.R299Q NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 694 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) ATGCTCTTGCCGCTCTGCTTC 0.423000 TFEC 22797 broad.mit.edu 37 7 115581990 115581990 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:115581990T>G uc003vhj.1 - 7 804 c.620A>C c.(619-621)AAG>ACG p.K207T TFEC_uc003vhk.1_Missense_Mutation_p.K178T|TFEC_uc003vhl.3_Missense_Mutation_p.K178T|TFEC_uc011kmw.1_Missense_Mutation_p.K297T NM_012252 NP_036384 O14948 TFEC_HUMAN transcription factor EC isoform a 207 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity large_intestine(1) 1 STAD - Stomach adenocarcinoma(10;0.00878) CTCTAATTTCTTCTGTCTGTG 0.428000 CFTR 1080 broad.mit.edu 37 7 117235071 117235071 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:117235071A>C uc003vjd.2 + 15 2710 c.2578A>C c.(2578-2580)ATT>CTT p.I860L CFTR_uc011knq.1_Missense_Mutation_p.I266L NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 860 Helical; Name=7; (Potential).|ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CAAGAGCTTAATTTTTGTGCT 0.333000 Cystic_Fibrosis CTTNBP2 83992 broad.mit.edu 37 7 117431987 117431987 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:117431987T>C uc003vjf.2 - 4 1355 c.1263A>G c.(1261-1263)CAA>CAG p.Q421Q NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 421 Pro-rich. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TAGGTGGAGCTTGCGAGTTCT 0.527000 C7orf58 79974 broad.mit.edu 37 7 120704342 120704342 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:120704342A>T uc003vjq.3 + 5 1038 c.591A>T c.(589-591)TTA>TTT p.L197F C7orf58_uc003vjr.1_Missense_Mutation_p.L197F|C7orf58_uc003vjs.3_Missense_Mutation_p.L197F|C7orf58_uc003vjt.3_5'UTR NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 197 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) AGGAAGGATTATGTCAAATAG 0.408000 SLC13A1 6561 broad.mit.edu 37 7 122787232 122787232 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:122787232A>C uc003vkm.2 - 7 818 c.793T>G c.(793-795)TTT>GTT p.F265V SLC13A1_uc010lks.2_Missense_Mutation_p.F141V NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 265 integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) TACTCTGCAAAGATCAAGTTG 0.388000 ASB15 142685 broad.mit.edu 37 7 123270123 123270123 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:123270123A>C uc003vku.1 + 11 1836 c.1544A>C c.(1543-1545)AAG>ACG p.K515T ASB15_uc003vkw.1_Missense_Mutation_p.K515T NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box-containing 15 515 intracellular signal transduction skin(2)|lung(1) 3 GCTAAACTGAAGTCTGCACTA 0.368000 CCDC136 64753 broad.mit.edu 37 7 128454771 128454771 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:128454771T>C uc003vnv.1 + 15 3210 c.2843T>C c.(2842-2844)GTA>GCA p.V948A CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.V764A|CCDC136_uc010llq.1_Missense_Mutation_p.V317A|CCDC136_uc003vny.1_Intron NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 948 Potential. integral to membrane protein binding ovary(2) 2 CGGCTTCTGGTAGTGCAGGAG 0.612000 TNPO3 23534 broad.mit.edu 37 7 128619046 128619046 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:128619046T>A uc003vol.1 - 16 2426 c.2052A>T c.(2050-2052)CTA>CTT p.L684L TNPO3_uc010llx.1_Silent_p.L95L|TNPO3_uc003vom.1_Silent_p.L618L|TNPO3_uc010lly.1_Silent_p.L718L|TNPO3_uc010llz.1_Silent_p.L620L NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN transportin 3 684 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity ovary(2)|skin(2)|lung(1) 5 CCTGTGTGACTAGTGGCTGCA 0.403000 TNPO3 23534 broad.mit.edu 37 7 128645196 128645196 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:128645196T>C uc003vol.1 - 5 944 c.570A>G c.(568-570)AAA>AAG p.K190K TNPO3_uc003vom.1_Silent_p.K124K|TNPO3_uc010lly.1_Silent_p.K190K|TNPO3_uc010llz.1_Silent_p.K190K NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN transportin 3 190 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity ovary(2)|skin(2)|lung(1) 5 CTGTTCCTGCTTTTTCTACAC 0.299000 TSGA14 95681 broad.mit.edu 37 7 130039931 130039931 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:130039931T>G uc003vpz.2 - 10 969 c.922A>C c.(922-924)AAA>CAA p.K308Q TSGA14_uc003vpy.2_Missense_Mutation_p.K70Q|TSGA14_uc010lmf.2_Missense_Mutation_p.K105Q|TSGA14_uc003vqa.2_Intron|TSGA14_uc011kpg.1_Intron NM_018718 NP_061188 Q9BYV8 CEP41_HUMAN testis specific, 14 308 G2/M transition of mitotic cell cycle centrosome|cytosol 0 Melanoma(18;0.0435) TCTATCTTTTTTAAGTCTTCT 0.463000 AKR1B15 441282 broad.mit.edu 37 7 134253009 134253009 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:134253009G>A uc011kpr.1 + 4 549 c.250G>A c.(250-252)GGA>AGA p.G84R AKR1B15_uc003vrt.2_Missense_Mutation_p.G56R|AKR1B15_uc011kps.1_Missense_Mutation_p.G56R NM_001080538 NP_001074007 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 84 oxidoreductase activity ovary(1) 1 ACATGAGGTGGGAGAAGCCAT 0.507000 DGKI 9162 broad.mit.edu 37 7 137270054 137270054 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:137270054T>C uc003vtt.2 - 14 1465 c.1464A>G c.(1462-1464)CAA>CAG p.Q488Q DGKI_uc003vtu.2_Silent_p.Q188Q NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 488 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 CATCTTCCACTTGACACAGGA 0.473000 TBXAS1 6916 broad.mit.edu 37 7 139572126 139572126 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:139572126A>C uc011kqv.1 + 2 349 c.185A>C c.(184-186)CAG>CCG p.Q62P TBXAS1_uc003vvh.2_Missense_Mutation_p.Q62P|TBXAS1_uc010lne.2_5'UTR|TBXAS1_uc011kqu.1_Intron|TBXAS1_uc003vvi.2_Missense_Mutation_p.Q62P|TBXAS1_uc003vvj.2_Missense_Mutation_p.Q62P|TBXAS1_uc011kqw.1_Silent_p.P32P|TBXAS1_uc011kqx.1_Missense_Mutation_p.Q62P NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 61 Lumenal (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) TTTTTCCGCCAGGTAAGGGCT 0.343000 SSPO 23145 broad.mit.edu 37 7 149475868 149475868 + Splice_Site SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:149475868A>C uc010lpk.2 + 7 836 c.836_splice c.e7-2 p.G279_splice SSPO_uc010lpl.1_Splice_Site NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TTCTGTGCCCAGGGCTGAGCC 0.622000 GIMAP6 474344 broad.mit.edu 37 7 150325584 150325584 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:150325584T>G uc003whn.2 - 3 526 c.102A>C c.(100-102)GAA>GAC p.E34D GIMAP6_uc003whm.2_Intron NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 34 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGGTCTTCTGTTCTTTCTCCC 0.522000 ACCN3 9311 broad.mit.edu 37 7 150749547 150749547 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr7:150749547C>T uc003win.2 + 10 1871 c.1503C>T c.(1501-1503)CTC>CTT p.L501L ACCN3_uc003wio.2_Silent_p.L501L|ACCN3_uc003wip.2_Intron|ACCN3_uc003wiq.2_RNA NM_004769 NP_004760 Q9UHC3 ACCN3_HUMAN amiloride-sensitive cation channel 3 isoform a 501 Cytoplasmic (Potential). sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCCCCACCTCAGCCTGGGCC 0.632000 AGPAT5 55326 broad.mit.edu 37 8 6614805 6614805 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:6614805T>G uc003wqo.2 + 8 1303 c.991T>G c.(991-993)TTG>GTG p.L331V AGPAT5_uc011kwm.1_3'UTR NM_018361 NP_060831 Q9NUQ2 PLCE_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 5 331 phospholipid biosynthetic process integral to membrane|mitochondrion 1-acylglycerol-3-phosphate O-acyltransferase activity 0 STAD - Stomach adenocarcinoma(24;0.0578) READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191) CTTAAGTGGTTTGACTGCAGG 0.408000 MSR1 4481 broad.mit.edu 37 8 16025998 16025998 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:16025998T>G uc003wwz.2 - 4 797 c.599A>C c.(598-600)AAA>ACA p.K200T MSR1_uc010lsu.2_Missense_Mutation_p.K218T|MSR1_uc003wxa.2_Missense_Mutation_p.K200T|MSR1_uc003wxb.2_Missense_Mutation_p.K200T|MSR1_uc011kxz.1_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 200 Potential.|Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CTCTTGGATTTTGCCATTCAG 0.413000 PCM1 5108 broad.mit.edu 37 8 17851033 17851033 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:17851033A>G uc003wyi.3 + 29 5154 c.4732A>G c.(4732-4734)AGT>GGT p.S1578G PCM1_uc011kyh.1_Missense_Mutation_p.S1570G|PCM1_uc003wyj.3_Missense_Mutation_p.S1524G|PCM1_uc011kyi.1_Missense_Mutation_p.S377G|PCM1_uc011kyj.1_Missense_Mutation_p.S334G|PCM1_uc003wyk.3_Missense_Mutation_p.S260G|PCM1_uc011kyk.1_Missense_Mutation_p.S194G NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 1578 Interaction with HAP1. centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) ACAACCTGTAAGTGAAGTTTC 0.333000 T RET|JAK2 papillary thyroid|CML|MPD REEP4 80346 broad.mit.edu 37 8 21997518 21997518 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:21997518A>C uc003xau.1 - 4 714 c.261T>G c.(259-261)CTT>CTG p.L87L REEP4_uc010ltt.1_Silent_p.L87L|REEP4_uc011kyz.1_Silent_p.L87L NM_025232 NP_079508 Q9H6H4 REEP4_HUMAN receptor accessory protein 4 87 integral to membrane skin(1) 1 Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993) ACTTGCGGTAAAGCAGGCTGG 0.552000 PPP3CC 5533 broad.mit.edu 37 8 22380024 22380024 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:22380024T>G uc003xbs.2 + 7 1118 c.791T>G c.(790-792)TTT>TGT p.F264C PPP3CC_uc003xbr.1_Missense_Mutation_p.F264C|PPP3CC_uc011kzi.1_Missense_Mutation_p.F264C|PPP3CC_uc003xbt.2_Missense_Mutation_p.F264C|PPP3CC_uc011kzj.1_Translation_Start_Site NM_005605 NP_005596 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma 264 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) GTTTGTGAATTTTTGCAGAAC 0.328000 EBF2 64641 broad.mit.edu 37 8 25766067 25766067 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:25766067A>C uc003xes.1 - 7 573 c.556T>G c.(556-558)TTT>GTT p.F186V PPP2R2A_uc003xek.2_Intron NM_022659 NP_073150 Q9HAK2 COE2_HUMAN early B-cell factor 2 186 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding ovary(3)|skin(1) 4 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) AATTTTAAAAAGAATCTGTGA 0.373000 C8orf80 389643 broad.mit.edu 37 8 27888776 27888776 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:27888776T>G uc003xgm.3 - 15 2035 c.1892A>C c.(1891-1893)AAT>ACT p.N631T NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN speckled-like pattern in the germinal center 631 nucleus GTP binding|GTPase activity ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) GATCAGGAAATTTTTTTTGCA 0.453000 RBPMS 11030 broad.mit.edu 37 8 30336863 30336863 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:30336863A>G uc003xic.1 + 4 881 c.216A>G c.(214-216)TCA>TCG p.S72S RBPMS_uc003xid.1_Silent_p.S72S|RBPMS_uc003xie.1_Silent_p.S72S|RBPMS_uc003xif.1_RNA|RBPMS_uc011lba.1_Silent_p.S72S|RBPMS_uc003xib.2_Silent_p.S72S|RBPMS_uc010lvh.1_5'UTR NM_006867 NP_006858 Q93062 RBPMS_HUMAN RNA-binding protein with multiple splicing 72 RRM. positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) ACAGTCGCTCAGAAGCAGAGG 0.383000 RNF122 79845 broad.mit.edu 37 8 33408905 33408905 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:33408905T>G uc003xjo.1 - 3 587 c.185A>C c.(184-186)AAA>ACA p.K62T NM_024787 NP_079063 Q9H9V4 RN122_HUMAN ring finger protein 122 62 endoplasmic reticulum|Golgi apparatus|integral to membrane zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116) GTTCCGCAGTTTGCTGGGAGA 0.498000 KCNU1 157855 broad.mit.edu 37 8 36763254 36763254 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:36763254T>C uc010lvw.2 + 20 2125 c.2038T>C c.(2038-2040)TCT>CCT p.S680P KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 680 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) AGAACAAGATTCTGACCAGCT 0.413000 AP3M2 10947 broad.mit.edu 37 8 42019931 42019931 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:42019931A>C uc003xop.2 + 5 869 c.578A>C c.(577-579)AAA>ACA p.K193T AP3M2_uc003xoo.2_Missense_Mutation_p.K193T|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.K78T|AP3M2_uc003xor.1_Missense_Mutation_p.K193T NM_001134296 NP_001127768 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 193 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus 0 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) ATTATTGATAAATCAGGTAGG 0.373000 PLAT 5327 broad.mit.edu 37 8 42050649 42050649 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:42050649A>G uc003xos.2 - 2 264 c.55T>C c.(55-57)TTC>CTC p.F19L PLAT_uc010lxf.1_Missense_Mutation_p.F19L|PLAT_uc010lxg.1_Missense_Mutation_p.F19L|PLAT_uc003xot.2_Missense_Mutation_p.F19L|PLAT_uc011lcm.1_Missense_Mutation_p.F19L|PLAT_uc011lcn.1_Missense_Mutation_p.F19L NM_000930 NP_000921 P00750 TPA_HUMAN plasminogen activator, tissue isoform 1 19 blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|skin(1) 2 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGCGAAACGAAGACTGCTCCA 0.562000 THAP1 55145 broad.mit.edu 37 8 42693377 42693377 + Nonsense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:42693377G>A uc003xpk.2 - 3 607 c.370C>T c.(370-372)CAG>TAG p.Q124* THAP1_uc003xpl.2_3'UTR NM_018105 NP_060575 Q9NVV9 THAP1_HUMAN THAP domain containing, apoptosis associated 124 cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body sequence-specific DNA binding|zinc ion binding 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869) ACAGGGGTCTGAAGAGGCGGC 0.483000 PRKDC 5591 broad.mit.edu 37 8 48762039 48762039 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:48762039A>G uc003xqi.2 - 54 7088 c.7031T>C c.(7030-7032)CTG>CCG p.L2344P PRKDC_uc003xqj.2_Missense_Mutation_p.L2344P|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2344 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) TTTCGCAACCAGTTCACACAG 0.378000 NHEJ PRKDC 5591 broad.mit.edu 37 8 48809800 48809800 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:48809800T>C uc003xqi.2 - 30 3576 c.3519A>G c.(3517-3519)TTA>TTG p.L1173L PRKDC_uc003xqj.2_Silent_p.L1173L|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1173 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) CACAATGAGCTAAAAGCCACT 0.423000 NHEJ RP1 6101 broad.mit.edu 37 8 55542190 55542190 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:55542190A>C uc003xsd.1 + 4 5896 c.5748A>C c.(5746-5748)CAA>CAC p.Q1916H RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1916 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTTGTGGTCAACATTGCCCAA 0.373000 LYN 4067 broad.mit.edu 37 8 56879353 56879353 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:56879353A>C uc003xsk.3 + 9 1152 c.870A>C c.(868-870)GAA>GAC p.E290D LYN_uc003xsl.3_Missense_Mutation_p.E269D NM_002350 NP_002341 P07948 LYN_HUMAN Yamaguchi sarcoma viral (v-yes-1) oncogene 290 Protein kinase. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) TCCTGGAAGAAGCCAACCTCA 0.507000 ASPH 444 broad.mit.edu 37 8 62550538 62550538 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:62550538T>C uc003xuj.2 - 12 1126 c.857A>G c.(856-858)AAT>AGT p.N286S ASPH_uc011leg.1_Missense_Mutation_p.N257S|ASPH_uc003xuo.2_Missense_Mutation_p.N267S|ASPH_uc011leh.1_Missense_Mutation_p.N252S|ASPH_uc003xul.2_Missense_Mutation_p.N272S|ASPH_uc011lei.1_Missense_Mutation_p.N271S|ASPH_uc011lej.1_Missense_Mutation_p.N229S|ASPH_uc003xun.2_Missense_Mutation_p.N243S|ASPH_uc011lek.1_Missense_Mutation_p.N267S|ASPH_uc003xum.2_Missense_Mutation_p.N286S NM_004318 NP_004309 Q12797 ASPH_HUMAN aspartate beta-hydroxylase isoform a 286 Glu-rich.|Lumenal (Potential). muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle ovary(3) 3 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) TTCTACAGGATTATCCTCAGG 0.323000 ARFGEF1 10565 broad.mit.edu 37 8 68139716 68139716 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:68139716A>T uc003xxo.1 - 26 4099 c.3709T>A c.(3709-3711)TTA>ATA p.L1237I ARFGEF1_uc003xxl.1_Missense_Mutation_p.L691I|ARFGEF1_uc003xxn.1_Missense_Mutation_p.L220I NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1237 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) AAAGGTCTTAAGAAATCCTTC 0.363000 NCOA2 10499 broad.mit.edu 37 8 71082536 71082536 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:71082536T>G uc003xyn.1 - 6 604 c.442A>C c.(442-444)AGG>CGG p.R148R NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 148 PAS. cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TGGTTATACCTTAGATACTGT 0.423000 T RUNXBP2 AML EYA1 2138 broad.mit.edu 37 8 72267124 72267124 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:72267124A>G uc003xys.3 - 2 304 c.17T>C c.(16-18)CTA>CCA p.L6P EYA1_uc003xyr.3_Missense_Mutation_p.L6P|EYA1_uc003xyt.3_Intron|EYA1_uc010lzf.2_5'UTR|EYA1_uc003xyu.2_Missense_Mutation_p.L6P|EYA1_uc011lfe.1_Missense_Mutation_p.L6P|EYA1_uc003xyv.2_5'UTR NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 6 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CGGGCTGGTTAGATCCTGCAT 0.448000 UBE2W 55284 broad.mit.edu 37 8 74742629 74742629 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:74742629T>G uc003xzv.2 - 2 147 c.94A>C c.(94-96)AAT>CAT p.N32H UBE2W_uc003xzt.2_Missense_Mutation_p.N32H|UBE2W_uc003xzu.2_Missense_Mutation_p.N43H|UBE2W_uc003xzw.2_RNA NM_018299 NP_060769 Q96B02 UBE2W_HUMAN ubiquitin-conjugating enzyme E2W (putative) 32 protein K11-linked ubiquitination|protein monoubiquitination ATP binding|protein binding|ubiquitin-protein ligase activity 0 Breast(64;0.0311) Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069) GTAATTGAATTTTGAACACTC 0.303000 ZFHX4 79776 broad.mit.edu 37 8 77617339 77617339 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:77617339A>C uc003yav.2 + 2 1403 c.1016A>C c.(1015-1017)AAA>ACA p.K339T ZFHX4_uc003yat.1_Missense_Mutation_p.K339T|ZFHX4_uc003yau.1_Missense_Mutation_p.K339T|ZFHX4_uc003yaw.1_Missense_Mutation_p.K339T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 339 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTGGAACCAAAAAAATCCACT 0.428000 HNSCC(33;0.089) CNGB3 54714 broad.mit.edu 37 8 87656904 87656904 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:87656904A>C uc003ydx.2 - 9 1047 c.1001T>G c.(1000-1002)TTT>TGT p.F334C CNGB3_uc010maj.2_Missense_Mutation_p.F196C NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 334 Extracellular (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 AAATTCAAAAAATGAAGTGTA 0.259000 GDF6 392255 broad.mit.edu 37 8 97172781 97172781 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:97172781T>G uc003yhp.2 - 1 240 c.140A>C c.(139-141)AAG>ACG p.K47T NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 47 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) CTTGCCTTCCTTGCGGCTTCG 0.667000 ATP6V1C1 528 broad.mit.edu 37 8 104065044 104065044 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:104065044A>G uc003ykz.3 + 6 712 c.467A>G c.(466-468)AAG>AGG p.K156R ATP6V1C1_uc010mbz.2_Missense_Mutation_p.K81R|ATP6V1C1_uc003yla.2_Missense_Mutation_p.K156R|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.K81R NM_001695 NP_001686 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal V1 subunit 156 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism 0 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) TTGGAACGAAAGAATGCGTAA 0.368000 KCNV1 27012 broad.mit.edu 37 8 110980514 110980514 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:110980514A>C uc003ynr.3 - 3 1648 c.1306T>G c.(1306-1308)TTC>GTC p.F436V KCNV1_uc010mcw.2_Missense_Mutation_p.F436V NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 436 Cytoplasmic (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TTCAAGGTGAAGTAGCAAGCA 0.428000 ATAD2 29028 broad.mit.edu 37 8 124357232 124357232 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:124357232T>C uc003yqh.3 - 19 2718 c.2610A>G c.(2608-2610)GGA>GGG p.G870G ATAD2_uc011lii.1_Silent_p.G661G|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Silent_p.G870G NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 870 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) TAAGTGTCGGTCCAACTATTT 0.408000 ADCY8 114 broad.mit.edu 37 8 131795960 131795960 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:131795960A>G uc003ytd.3 - 17 3501 c.3245T>C c.(3244-3246)TTC>TCC p.F1082S ADCY8_uc010mds.2_Missense_Mutation_p.F951S NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1082 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport 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) AAAATTGTTGAATGAATGCTT 0.517000 HNSCC(32;0.087) ADCY8 114 broad.mit.edu 37 8 131796002 131796002 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:131796002A>C uc003ytd.3 - 17 3459 c.3203T>G c.(3202-3204)CTC>CGC p.L1068R ADCY8_uc010mds.2_Missense_Mutation_p.L937R NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1068 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport 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) TGTCAGGGCGAGTGAGAAGTC 0.478000 HNSCC(32;0.087) EFR3A 23167 broad.mit.edu 37 8 132991146 132991146 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:132991146T>C uc003yte.2 + 13 1580 c.1379T>C c.(1378-1380)TTC>TCC p.F460S NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 460 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) CCAGGGTCTTTCCTGGATCCT 0.423000 KCNK9 51305 broad.mit.edu 37 8 140631316 140631316 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:140631316C>T uc003yvf.1 - 2 374 c.310G>A c.(310-312)GAT>AAT p.D104N KCNK9_uc003yvg.1_Missense_Mutation_p.D104N|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 104 Extracellular (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) TTGCCCGCATCGGTGCCAGGT 0.612000 ZNF251 90987 broad.mit.edu 37 8 145947158 145947158 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr8:145947158T>G uc003zdv.3 - 5 2143 c.1887A>C c.(1885-1887)AAA>AAC p.K629N NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN zinc finger protein 251 629 C2H2-type 14; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) GGCTGAAGGCTTTCCCATACA 0.438000 DOCK8 81704 broad.mit.edu 37 9 463649 463649 + Missense_Mutation SNP A A C rs145573166 byFrequency TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:463649A>C uc003zgf.2 + 47 6313 c.6201A>C c.(6199-6201)GAA>GAC p.E2067D DOCK8_uc010mgu.2_Missense_Mutation_p.E1369D|DOCK8_uc010mgv.2_Missense_Mutation_p.E1967D|DOCK8_uc003zgk.2_Missense_Mutation_p.E1525D NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 2067 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AAATTCCAGAACTGTACAAGC 0.473000 KIAA0020 9933 broad.mit.edu 37 9 2811528 2811528 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:2811528A>G uc003zhp.1 - 15 1564 c.1468T>C c.(1468-1470)TTG>CTG p.L490L KIAA0020_uc010mhc.1_Silent_p.L489L|KIAA0020_uc003zhq.1_Silent_p.L489L NM_014878 NP_055693 Q15397 K0020_HUMAN KIAA0020 protein 490 PUM-HD. endoplasmic reticulum|nucleolus RNA binding ovary(1) 1 GBM - Glioblastoma multiforme(50;0.0319) TAGCTTAACAAAGCTGGAGAA 0.468000 SLC1A1 6505 broad.mit.edu 37 9 4490700 4490700 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:4490700A>C uc003zij.1 + 1 257 c.21A>C c.(19-21)AAA>AAC p.K7N NM_004170 NP_004161 P43005 EAA3_HUMAN solute carrier family 1, member 1 7 Cytoplasmic (Potential). D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) CGGCGAGGAAAGGATGCGAGT 0.701000 CDC37L1 55664 broad.mit.edu 37 9 4685004 4685004 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:4685004A>G uc003zio.2 + 2 470 c.260A>G c.(259-261)GAG>GGG p.E87G NM_017913 NP_060383 Q7L3B6 CD37L_HUMAN cell division cycle 37 homolog (S. 87 Potential.|Self-association. cytoplasm 0 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) CATAATTCTGAGTCCTTGGAT 0.458000 RLN1 6013 broad.mit.edu 37 9 5335303 5335303 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:5335303T>G uc003zjb.1 - 2 633 c.506A>C c.(505-507)GAG>GCG p.E169A NM_006911 NP_008842 P04808 REL1_HUMAN relaxin 1 preproprotein 169 female pregnancy|signal transduction extracellular region hormone activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984) GCAACATTTCTCAAACAGTGC 0.393000 KIAA1432 57589 broad.mit.edu 37 9 5747306 5747306 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:5747306A>C uc003zji.2 + 11 1109 c.1016A>C c.(1015-1017)AAC>ACC p.N339T KIAA1432_uc003zjh.2_Missense_Mutation_p.N339T|KIAA1432_uc003zjl.3_Missense_Mutation_p.N339T|KIAA1432_uc003zjj.1_5'UTR NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 418 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) ATTTAGAGTAACCAAGAGCAG 0.418000 KIAA1432 57589 broad.mit.edu 37 9 5763220 5763220 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:5763220T>G uc003zji.2 + 18 2049 c.1956T>G c.(1954-1956)CGT>CGG p.R652R KIAA1432_uc003zjh.2_Silent_p.R652R|KIAA1432_uc003zjl.3_Silent_p.R615R|KIAA1432_uc003zjj.1_Silent_p.R194R NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 731 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) AACAGAAACGTCACCTTCTGG 0.522000 PTPRD 5789 broad.mit.edu 37 9 8338943 8338943 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:8338943T>G uc003zkk.2 - 42 6069 c.5358A>C c.(5356-5358)GAA>GAC p.E1786D PTPRD_uc003zkp.2_Missense_Mutation_p.E1380D|PTPRD_uc003zkq.2_Missense_Mutation_p.E1379D|PTPRD_uc003zkr.2_Missense_Mutation_p.E1370D|PTPRD_uc003zks.2_Missense_Mutation_p.E1379D|PTPRD_uc003zkl.2_Missense_Mutation_p.E1777D|PTPRD_uc003zkm.2_Missense_Mutation_p.E1773D|PTPRD_uc003zkn.2_Missense_Mutation_p.E1375D|PTPRD_uc003zko.2_Missense_Mutation_p.E1376D NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1786 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGACCTTGAATTCCCTTAGGA 0.453000 TSP Lung(15;0.13) PTPRD 5789 broad.mit.edu 37 9 8636748 8636748 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:8636748T>G uc003zkk.2 - 12 872 c.161A>C c.(160-162)AAA>ACA p.K54T PTPRD_uc003zkp.2_Missense_Mutation_p.K54T|PTPRD_uc003zkq.2_Missense_Mutation_p.K54T|PTPRD_uc003zkr.2_Missense_Mutation_p.K54T|PTPRD_uc003zks.2_Missense_Mutation_p.K54T|PTPRD_uc003zkl.2_Missense_Mutation_p.K54T|PTPRD_uc003zkm.2_Missense_Mutation_p.K54T|PTPRD_uc003zkn.2_Missense_Mutation_p.K54T|PTPRD_uc003zko.2_Missense_Mutation_p.K54T|PTPRD_uc003zkt.1_Missense_Mutation_p.K54T NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 54 Ig-like C2-type 1.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CCAGACAATTTTAGGTCTTGG 0.468000 TSP Lung(15;0.13) BNC2 54796 broad.mit.edu 37 9 16436973 16436973 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:16436973T>C uc003zml.2 - 6 1359 c.1219A>G c.(1219-1221)AAT>GAT p.N407D BNC2_uc011lmw.1_Missense_Mutation_p.N312D|BNC2_uc003zmm.2_Missense_Mutation_p.N365D|BNC2_uc003zmq.1_Missense_Mutation_p.N421D|BNC2_uc003zmr.1_Missense_Mutation_p.N444D|BNC2_uc003zmp.1_Missense_Mutation_p.N435D|BNC2_uc010mij.1_Missense_Mutation_p.N329D|BNC2_uc011lmv.1_Missense_Mutation_p.N233D|BNC2_uc003zmo.1_Missense_Mutation_p.N329D|BNC2_uc003zmj.2_Missense_Mutation_p.N172D|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.N172D|BNC2_uc003zmn.1_Missense_Mutation_p.N172D NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 407 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) GGGGCAGAATTCTGAATGGGA 0.473000 BNC2 54796 broad.mit.edu 37 9 16738377 16738377 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:16738377A>C uc003zml.2 - 2 250 c.110T>G c.(109-111)GTT>GGT p.V37G BNC2_uc011lmw.1_Intron|BNC2_uc003zmm.2_Intron|BNC2_uc003zmq.1_Missense_Mutation_p.V51G|BNC2_uc003zmr.1_Missense_Mutation_p.V37G|BNC2_uc003zmp.1_Missense_Mutation_p.V37G|BNC2_uc010mij.1_Intron|BNC2_uc003zmu.1_RNA|BNC2_uc010mim.1_Intron|BNC2_uc010min.1_Intron NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 37 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) AGATGTATCAACCCCACAACA 0.423000 PLIN2 123 broad.mit.edu 37 9 19120914 19120914 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:19120914C>T uc003zno.2 - 5 738 c.559G>A c.(559-561)GTA>ATA p.V187I PLIN2_uc011lna.1_Missense_Mutation_p.V159I|PLIN2_uc011lnb.1_Intron NM_001122 NP_001113 Q99541 PLIN2_HUMAN adipose differentiation-related protein 187 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle ovary(2) 2 TACTGTTCTACCAACAGCTCT 0.428000 KIAA1797 54914 broad.mit.edu 37 9 20995574 20995574 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:20995574A>G uc003zog.1 + 46 5715 c.5352A>G c.(5350-5352)AGA>AGG p.R1784R KIAA1797_uc003zoh.1_Silent_p.R1220R NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 1784 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) TGTCCTTGAGAGTTCTCCCAG 0.423000 KIAA1797 54914 broad.mit.edu 37 9 20995592 20995592 + Missense_Mutation SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:20995592G>T uc003zog.1 + 46 5733 c.5370G>T c.(5368-5370)AAG>AAT p.K1790N KIAA1797_uc003zoh.1_Missense_Mutation_p.K1226N NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 1790 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) CAGAGTTTAAGAAGAAAGCTG 0.428000 IFNW1 3467 broad.mit.edu 37 9 21141068 21141068 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:21141068T>C uc003zol.1 - 1 1077 c.502A>G c.(502-504)AGA>GGA p.R168G NM_002177 NP_002168 P05000 IFNW1_HUMAN interferon, omega 1 precursor 168 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding 0 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ATTTCCATTCTGACAACTTCC 0.438000 NDUFB6 4712 broad.mit.edu 37 9 32558948 32558948 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:32558948T>G uc003zre.1 - 3 402 c.278A>C c.(277-279)AAA>ACA p.K93T NDUFB6_uc003zrf.1_Intron NM_002493 NP_002484 O95139 NDUB6_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 93 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00199) NADH(DB00157) GCCATATGGTTTTTCCTGTAA 0.214000 AQP3 360 broad.mit.edu 37 9 33443820 33443820 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:33443820T>G uc003zsx.2 - 2 241 c.179A>C c.(178-180)AAC>ACC p.N60T SUGT1P1_uc010mjq.1_Intron|AQP3_uc003zsv.1_Missense_Mutation_p.N60T|AQP3_uc003zsw.2_5'Flank|AQP3_uc010mju.2_Missense_Mutation_p.N60T NM_004925 NP_004916 Q92482 AQP3_HUMAN aquaporin 3 60 Helical; (Potential). excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D basolateral plasma membrane|cell-cell junction|cytoplasm glycerol channel activity|water channel activity 0 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.0899) AAAGGCCAGGTTGATGGTGAG 0.602000 UBAP2 55833 broad.mit.edu 37 9 33953371 33953371 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:33953371A>G uc003ztq.1 - 12 1081 c.968T>C c.(967-969)CTT>CCT p.L323P UBAP2_uc011loc.1_Missense_Mutation_p.L232P|UBAP2_uc011lod.1_Missense_Mutation_p.L56P|UBAP2_uc011loe.1_Missense_Mutation_p.L78P|UBAP2_uc011lof.1_Missense_Mutation_p.L248P|UBAP2_uc011log.1_Missense_Mutation_p.L269P|UBAP2_uc003ztr.2_Missense_Mutation_p.L195P|SNORD121A_uc010mjz.2_5'Flank NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 323 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TGTGAAGACAAGGGCTTGGCC 0.517000 DNAI1 27019 broad.mit.edu 37 9 34491532 34491532 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:34491532T>G uc003zum.2 + 8 854 c.661T>G c.(661-663)TTT>GTT p.F221V NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 221 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) CAGGACAAACTTTTCAGCCAC 0.493000 Kartagener_syndrome FBXO10 26267 broad.mit.edu 37 9 37518122 37518122 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:37518122T>C uc004aab.2 - 9 2563 c.2514A>G c.(2512-2514)AAA>AAG p.K838K FBXO10_uc004aac.2_Silent_p.K854K|FBXO10_uc004aad.2_Silent_p.K388K NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 838 PbH1 17. ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) ACATACTCACTTTAGTGTCGG 0.557000 MCART1 92014 broad.mit.edu 37 9 37888453 37888453 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:37888453T>G uc004aau.2 - 3 839 c.95A>C c.(94-96)AAG>ACG p.K32T MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.K32T NM_033412 NP_219480 Q9H1U9 MCAR1_HUMAN mitochondrial carrier triple repeat 1 32 Solcar 1. transport integral to membrane|mitochondrial inner membrane ovary(2)|breast(1) 3 GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422) CAAGTAATGCTTCATCTCACC 0.418000 FAM189A2 9413 broad.mit.edu 37 9 71992295 71992295 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:71992295T>A uc010mon.1 + 5 366 c.262T>A c.(262-264)TTT>ATT p.F88I FAM189A2_uc004ahg.2_Missense_Mutation_p.F88I|FAM189A2_uc010moo.1_5'UTR NM_001127608 NP_001121080 Q15884 F1892_HUMAN chromosome 9 open reading frame 61 precursor 88 Helical; (Potential). integral to membrane 0 GAAAGTCCTCTTTGCCCTGTG 0.453000 PCSK5 5125 broad.mit.edu 37 9 78772059 78772059 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:78772059A>G uc004ajz.2 + 11 1949 c.1411A>G c.(1411-1413)AGC>GGC p.S471G PCSK5_uc004ajy.2_Missense_Mutation_p.S471G|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 471 Homo B/P. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 GTGTGTGGAGAGCACAGACCG 0.517000 VPS13A 23230 broad.mit.edu 37 9 79936645 79936645 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:79936645T>C uc004akr.2 + 44 6073 c.5813T>C c.(5812-5814)CTC>CCC p.L1938P VPS13A_uc004akp.3_Missense_Mutation_p.L1938P|VPS13A_uc004akq.3_Missense_Mutation_p.L1938P|VPS13A_uc004aks.2_Missense_Mutation_p.L1899P|VPS13A_uc004akt.2_Missense_Mutation_p.L278P NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1938 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 AGCAGCAAACTCTTCTTCATT 0.303000 VPS13A 23230 broad.mit.edu 37 9 79954519 79954519 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:79954519A>C uc004akr.2 + 48 6726 c.6466A>C c.(6466-6468)AAA>CAA p.K2156Q VPS13A_uc004akp.3_Missense_Mutation_p.K2156Q|VPS13A_uc004akq.3_Missense_Mutation_p.K2156Q|VPS13A_uc004aks.2_Missense_Mutation_p.K2117Q NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 2156 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 GCTACATTTAAAATTACTTGA 0.338000 TLE4 7091 broad.mit.edu 37 9 82336771 82336771 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:82336771C>T uc004ald.2 + 18 2878 c.2029C>T c.(2029-2031)CGG>TGG p.R677W TLE4_uc004alc.2_Missense_Mutation_p.R652W|TLE4_uc010mpr.2_Missense_Mutation_p.R531W|TLE4_uc004ale.2_Missense_Mutation_p.R289W|TLE4_uc011lsq.1_Missense_Mutation_p.R620W|TLE4_uc010mps.2_Missense_Mutation_p.R576W|TLE4_uc004alf.2_Missense_Mutation_p.R591W NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 GCGCGAGGGGCGGCAGCTGCA 0.468000 TLE1 7088 broad.mit.edu 37 9 84230907 84230907 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:84230907T>C uc004aly.2 - 11 1349 c.908A>G c.(907-909)GAA>GGA p.E303G TLE1_uc004alz.2_Missense_Mutation_p.E313G|TLE1_uc011lsr.1_Missense_Mutation_p.E303G|TLE1_uc004ama.1_Missense_Mutation_p.E303G|TLE1_uc011lss.1_Missense_Mutation_p.E229G NM_005077 NP_005068 Q04724 TLE1_HUMAN transducin-like enhancer protein 1 303 Pro/Ser-rich. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding ovary(1)|skin(1) 2 CAAGCTCATTTCTTTGGATTT 0.443000 NFIL3 4783 broad.mit.edu 37 9 94172426 94172426 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:94172426T>G uc004arh.2 - 2 986 c.591A>C c.(589-591)GAA>GAC p.E197D NM_005384 NP_005375 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 197 Ser-rich. circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 CCTGCGTGTGTTCTACTGAGG 0.478000 PTCH1 5727 broad.mit.edu 37 9 98231052 98231052 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:98231052A>G uc004avk.3 - 14 2419 c.2231T>C c.(2230-2232)CTC>CCC p.L744P PTCH1_uc010mro.2_Missense_Mutation_p.L593P|PTCH1_uc010mrp.2_Missense_Mutation_p.L593P|PTCH1_uc010mrq.2_Missense_Mutation_p.L593P|PTCH1_uc004avl.3_Missense_Mutation_p.L593P|PTCH1_uc010mrr.2_Missense_Mutation_p.L678P|PTCH1_uc004avm.3_Missense_Mutation_p.L743P|PTCH1_uc010mrs.1_Missense_Mutation_p.L412P NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 744 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) TGGTTTCAAGAGGAAAGGAGC 0.473000 Basal_Cell_Nevus_syndrome PTCH1 5727 broad.mit.edu 37 9 98244295 98244295 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:98244295T>G uc004avk.3 - 5 870 c.682A>C c.(682-684)ATT>CTT p.I228L PTCH1_uc010mro.2_Missense_Mutation_p.I77L|PTCH1_uc010mrp.2_Missense_Mutation_p.I77L|PTCH1_uc010mrq.2_Missense_Mutation_p.I77L|PTCH1_uc004avl.3_Missense_Mutation_p.I77L|PTCH1_uc010mrr.2_Missense_Mutation_p.I162L|PTCH1_uc004avm.3_Missense_Mutation_p.I227L|PTCH1_uc010mrs.1_5'Flank|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_Intron|PTCH1_uc004avo.2_Missense_Mutation_p.I162L|PTCH1_uc010mrv.1_RNA NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 228 Extracellular (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) GGTGTAATAATCAAACAAGGG 0.418000 Basal_Cell_Nevus_syndrome CTSL2 1515 broad.mit.edu 37 9 99797109 99797109 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:99797109T>C uc004awt.2 - 7 1001 c.804A>G c.(802-804)CCA>CCG p.P268P CTSL2_uc010msi.2_Silent_p.P268P|CTSL2_uc004awu.2_Silent_p.P213P|CTSL2_uc010msj.1_Silent_p.P213P NM_001333 NP_001324 O60911 CATL2_HUMAN cathepsin L2 preproprotein 268 lysosome cysteine-type endopeptidase activity 0 Acute lymphoblastic leukemia(62;0.0559) TGCTGCAGTCTGGTTCAAAAT 0.473000 FOXE1 2304 broad.mit.edu 37 9 100617166 100617166 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:100617166T>G uc004axu.2 + 1 1630 c.970T>G c.(970-972)TTC>GTC p.F324V NM_004473 NP_004464 O00358 FOXE1_HUMAN forkhead box E1 324 cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 Acute lymphoblastic leukemia(62;0.158) CACGGTGGACTTCTACGGGCG 0.741000 COL15A1 1306 broad.mit.edu 37 9 101810103 101810103 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:101810103T>C uc004azb.1 + 27 2921 c.2715T>C c.(2713-2715)TTT>TTC p.F905F NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 905 Triple-helical region 5 (COL5). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) AAGGAGAATTTGGCCTTCCCG 0.537000 OR13C3 138803 broad.mit.edu 37 9 107298596 107298596 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:107298596T>C uc004bcb.1 - 1 499 c.499A>G c.(499-501)AGC>GGC p.S167G NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, 167 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 GCCACCTTGCTCAGGATGATG 0.488000 SVEP1 79987 broad.mit.edu 37 9 113220835 113220835 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:113220835A>C uc010mtz.2 - 20 3829 c.3492T>G c.(3490-3492)AGT>AGG p.S1164R SVEP1_uc010mua.1_Missense_Mutation_p.S1164R NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1164 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 AGAAAGTTGAACTAAAACCTA 0.408000 ZNF883 169834 broad.mit.edu 37 9 115759766 115759766 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:115759766A>C uc011lwy.1 - 5 2013 c.774T>G c.(772-774)ACT>ACG p.T258T NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 258 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTCCAGTATGAGTTCTCTGGT 0.388000 ZFP37 7539 broad.mit.edu 37 9 115806455 115806455 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:115806455T>G uc004bgm.1 - 4 471 c.443A>C c.(442-444)AAG>ACG p.K148T ZFP37_uc011lwz.1_Missense_Mutation_p.K163T|ZFP37_uc011lxa.1_Missense_Mutation_p.K149T NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 148 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GCCATTCTTCTTAGCTTGAGT 0.358000 PAPPA 5069 broad.mit.edu 37 9 119115949 119115949 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:119115949A>C uc004bjn.2 + 17 4605 c.4224A>C c.(4222-4224)GGA>GGC p.G1408G PAPPA_uc011lxq.1_Silent_p.G783G NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1408 Sushi 3. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GGCAGGAGGGAGCTTGTGTTC 0.507000 GSN 2934 broad.mit.edu 37 9 124079367 124079367 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:124079367T>C uc004blf.1 + 7 971 c.910T>C c.(910-912)TCC>CCC p.S304P GSN_uc004bld.1_Missense_Mutation_p.S253P|GSN_uc010mvq.1_Missense_Mutation_p.S264P|GSN_uc010mvr.1_Missense_Mutation_p.S264P|GSN_uc010mvu.1_Missense_Mutation_p.S253P|GSN_uc010mvt.1_Missense_Mutation_p.S253P|GSN_uc010mvs.1_Missense_Mutation_p.S253P|GSN_uc004ble.1_Missense_Mutation_p.S253P|GSN_uc010mvv.1_Missense_Mutation_p.S253P|GSN_uc011lyh.1_Missense_Mutation_p.S270P|GSN_uc011lyi.1_Missense_Mutation_p.S253P|GSN_uc011lyj.1_Missense_Mutation_p.S277P|GSN_uc004blg.1_Missense_Mutation_p.S35P NM_000177 NP_000168 P06396 GELS_HUMAN gelsolin isoform a precursor 304 actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding breast(2)|ovary(1) 3 CCCTCAGGTCTCCAATGGTGC 0.622000 NUP214 8021 broad.mit.edu 37 9 134016018 134016018 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:134016018T>G uc004cag.2 + 11 1326 c.1215T>G c.(1213-1215)AAT>AAG p.N405K NUP214_uc004cah.2_Missense_Mutation_p.N405K|NUP214_uc004caf.1_Missense_Mutation_p.N405K NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 405 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) ATATGATTAATCAAAATCCTG 0.418000 T DEK|SET|ABL1 AML|T-ALL NUP214 8021 broad.mit.edu 37 9 134038401 134038401 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:134038401A>G uc004cag.2 + 19 2675 c.2564A>G c.(2563-2565)GAG>GGG p.E855G NUP214_uc004cah.2_Missense_Mutation_p.E845G|NUP214_uc004cai.2_Missense_Mutation_p.E285G|NUP214_uc004caf.1_Missense_Mutation_p.E844G|NUP214_uc010mzf.2_Missense_Mutation_p.E153G NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 855 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CCAGAGCGAGAGACACTGTTT 0.438000 T DEK|SET|ABL1 AML|T-ALL TTF1 7270 broad.mit.edu 37 9 135266034 135266034 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:135266034T>G uc004cbl.2 - 7 2224 c.2172A>C c.(2170-2172)GAA>GAC p.E724D TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.E209D NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 724 Myb-like 2. 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) TAGCTTCTACTTCTACCCAAG 0.428000 GFI1B 8328 broad.mit.edu 37 9 135865169 135865169 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:135865169A>G uc004ccg.2 + 6 840 c.689A>G c.(688-690)AAG>AGG p.K230R GFI1B_uc010mzy.2_Missense_Mutation_p.K184R NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription 230 Mediates interaction with GATA1.|C2H2-type 3.|Interaction with ARIH2. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) AAGGCCTTCAAGCGCTCGTCC 0.667000 BRD3 8019 broad.mit.edu 37 9 136906979 136906979 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:136906979G>A uc004cew.2 - 8 1498 c.1310C>T c.(1309-1311)GCT>GTT p.A437V BRD3_uc004cex.2_Missense_Mutation_p.A437V NM_007371 NP_031397 Q15059 BRD3_HUMAN bromodomain containing protein 3 437 nucleus protein binding BRD3/C15orf55(3) stomach(4)|midline_organs(3)|kidney(1) 8 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) GCTGCTCTCAGCGCCCTTGCT 0.677000 T NUT|C15orf55 lethal midline carcinoma of young people PNPLA7 375775 broad.mit.edu 37 9 140441763 140441763 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr9:140441763A>C uc004cnf.2 - 2 453 c.116T>G c.(115-117)TTT>TGT p.F39C PNPLA7_uc010ncj.1_Missense_Mutation_p.F64C NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 39 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) ATACTCACGAAATTGTCTAAG 0.587000 PLCXD1 55344 broad.mit.edu 37 X 205517 205517 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:205517T>C uc004cpc.2 + 3 557 c.245T>C c.(244-246)CTG>CCG p.L82P PLCXD1_uc011mgx.1_RNA NM_018390 NP_060860 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X 82 PI-PLC X-box. intracellular signal transduction|lipid metabolic process phospholipase C activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCTGTCGTGCTGAAATGGTCC 0.637000 SHOX 6473 broad.mit.edu 37 X 595445 595445 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:595445T>G uc004cph.1 + 3 1061 c.370T>G c.(370-372)TTC>GTC p.F124V SHOX_uc004cpi.2_Missense_Mutation_p.F124V NM_000451 NP_000442 O15266 SHOX_HUMAN short stature homeobox isoform SHOXa 124 Homeobox. skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor 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) CCGCACCAACTTCACGCTGGA 0.617000 CSF2RA 1438 broad.mit.edu 37 X 1419418 1419418 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:1419418A>G uc010nct.2 + 11 1167 c.845A>G c.(844-846)AAC>AGC p.N282S CSF2RA_uc011mhb.1_Missense_Mutation_p.N282S|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.N282S|CSF2RA_uc004cpo.2_Missense_Mutation_p.N282S|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Missense_Mutation_p.N149S|CSF2RA_uc004cpp.2_Missense_Mutation_p.N282S|CSF2RA_uc010ncv.2_Missense_Mutation_p.N282S|CSF2RA_uc004cpr.2_Missense_Mutation_p.N282S NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 282 Extracellular (Potential). extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 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) Sargramostim(DB00020) AATAGATACAACTTTCCAAGC 0.423000 ASB9 140462 broad.mit.edu 37 X 15268632 15268632 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:15268632T>G uc004cwl.2 - 5 735 c.488A>C c.(487-489)AAG>ACG p.K163T ASB9_uc004cwk.2_Missense_Mutation_p.K163T|ASB9_uc004cwm.2_Missense_Mutation_p.K153T|ASB9_uc010ner.2_Missense_Mutation_p.K163T|ASB9_uc004cwn.2_Missense_Mutation_p.K134T NM_001031739 NP_001026909 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box-containing 9 isoform 163 intracellular signal transduction 0 Hepatocellular(33;0.183) GTGGCTGATCTTATGGTCAAT 0.468000 SCML1 6322 broad.mit.edu 37 X 17771450 17771450 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:17771450A>G uc004cyb.2 + 8 1253 c.928A>G c.(928-930)ACG>GCG p.T310A SCML1_uc004cyc.2_Missense_Mutation_p.T283A|SCML1_uc004cyd.2_Missense_Mutation_p.T189A|SCML1_uc004cye.2_Missense_Mutation_p.T189A NM_001037540 NP_001032629 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 isoform a 310 SAM. anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1) 3 Hepatocellular(33;0.183) GAAGCTGGGAACGGCTGTGAA 0.428000 PHKA2 5256 broad.mit.edu 37 X 18924619 18924619 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:18924619A>G uc004cyv.3 - 25 3230 c.2800T>C c.(2800-2802)TGC>CGC p.C934R PHKA2_uc004cyu.3_Missense_Mutation_p.C232R|PHKA2_uc010nfe.1_5'Flank|PHKA2_uc010nff.1_5'Flank NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 934 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) TCACCTGAGCAGTTCAGGCTC 0.622000 PTCHD1 139411 broad.mit.edu 37 X 23398122 23398122 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:23398122T>G uc004dal.3 + 2 774 c.766T>G c.(766-768)TCA>GCA p.S256A PTCHD1_uc010nfu.1_Missense_Mutation_p.S256A NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 256 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 CACGTCCTCCTCACTGAGGGA 0.507000 FAM48B1 100130302 broad.mit.edu 37 X 24380992 24380992 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:24380992A>C uc011mjx.1 + 1 115 c.115A>C c.(115-117)AAA>CAA p.K39Q NM_001136234 NP_001129706 hypothetical protein LOC100130302 kidney(1) 1 TCTGCAGGAAAAACTTTATGA 0.423000 MAGEB2 4113 broad.mit.edu 37 X 30237447 30237447 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:30237447A>T uc004dbz.2 + 2 853 c.750A>T c.(748-750)AAA>AAT p.K250N NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 250 MAGE. protein binding ovary(1) 1 TCATCACCAAAGATCTGGTGC 0.507000 GK 2710 broad.mit.edu 37 X 30737592 30737592 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:30737592T>G uc004dch.3 + 15 1290 c.1111T>G c.(1111-1113)TCG>GCG p.S371A GK_uc010ngj.2_Missense_Mutation_p.S365A|GK_uc004dci.3_Missense_Mutation_p.S365A|GK_uc011mjz.1_Missense_Mutation_p.S166A|GK_uc011mka.1_Missense_Mutation_p.S208A|GK_uc010ngk.2_Missense_Mutation_p.S160A NM_203391 NP_976325 P32189 GLPK_HUMAN glycerol kinase isoform a 371 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1) 1 CCCAGCATTTTCGGGGTTATA 0.363000 SYTL5 94122 broad.mit.edu 37 X 37984761 37984761 + Splice_Site SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:37984761T>G uc004ddu.2 + 17 2584 c.2050_splice c.e17+2 p.G684_splice SYTL5_uc004ddv.2_Splice_Site_p.G684_splice|SYTL5_uc004ddx.2_Splice_Site_p.G706_splice NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 CTGGAAGTGGTGAGGGATTTG 0.468000 RPGR 6103 broad.mit.edu 37 X 38169936 38169936 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:38169936A>G uc004ded.1 - 7 878 c.710T>C c.(709-711)CTG>CCG p.L237P RPGR_uc004deb.2_Missense_Mutation_p.L237P|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C 237 RCC1 4. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 TTCAGACACCAGCTGGGGTGT 0.507000 EFHC2 80258 broad.mit.edu 37 X 44109672 44109672 + Missense_Mutation SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:44109672G>T uc004dgb.3 - 6 716 c.626C>A c.(625-627)CCC>CAC p.P209H NM_025184 NP_079460 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 209 calcium ion binding breast(3)|ovary(2)|central_nervous_system(1) 6 GGGACGTAAGGGCTCTACGTG 0.418000 RGN 9104 broad.mit.edu 37 X 46951102 46951102 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:46951102A>G uc004dgz.1 + 6 1557 c.588A>G c.(586-588)CTA>CTG p.L196L RGN_uc004dha.1_Silent_p.L196L|RGN_uc010nho.1_Silent_p.L143L|RGN_uc010nhp.1_Silent_p.L124L NM_152869 NP_690608 Q15493 RGN_HUMAN regucalcin 196 cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling cytoplasm|nucleus calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding 0 TTTACAAGCTAGAAAAGGAAG 0.423000 CCNB3 85417 broad.mit.edu 37 X 50051989 50051989 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:50051989A>T uc004dox.3 + 6 1118 c.820A>T c.(820-822)ACT>TCT p.T274S CCNB3_uc004doy.2_Missense_Mutation_p.T274S|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 274 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) GAAGCCTAAAACTGAGGAGTC 0.423000 MAGEE1 57692 broad.mit.edu 37 X 75648336 75648336 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:75648336A>C uc004ecm.1 + 1 220 c.13A>C c.(13-15)AGC>CGC p.S5R NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 5 dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 GTCTCTGGTAAGCCAGAATTc 0.567000 ZNF711 7552 broad.mit.edu 37 X 84510394 84510394 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:84510394T>G uc004eeo.2 + 4 556 c.209T>G c.(208-210)GTT>GGT p.V70G ZNF711_uc004eep.2_Missense_Mutation_p.V70G|ZNF711_uc004eeq.2_Missense_Mutation_p.V70G NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 70 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 GCAGCTGAAGTTGTCCATGGA 0.428000 TAF7L 54457 broad.mit.edu 37 X 100536734 100536734 + Nonsense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:100536734T>A uc004ehb.2 - 6 706 c.694A>T c.(694-696)AAA>TAA p.K232* TAF7L_uc004eha.2_Nonsense_Mutation_p.K146*|TAF7L_uc004ehc.1_Nonsense_Mutation_p.K146* NM_024885 NP_079161 Q5H9L4 TAF7L_HUMAN TATA box binding protein-associated factor, RNA 232 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding breast(1) 1 CGGAACCTTTTCTTTCTGACA 0.378000 GPRASP2 114928 broad.mit.edu 37 X 101970070 101970070 + Silent SNP A A G rs139738191 byFrequency TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:101970070A>G uc004ejk.2 + 4 1607 c.273A>G c.(271-273)CAA>CAG p.Q91Q GPRASP2_uc004ejl.2_Silent_p.Q91Q|GPRASP2_uc004ejm.2_Silent_p.Q91Q|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 91 cytoplasm protein binding ovary(1) 1 CGGAGGCTCAAGGAATCACAG 0.577000 GLRA4 441509 broad.mit.edu 37 X 102979114 102979114 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:102979114T>G uc011mse.1 - 4 807 c.386A>C c.(385-387)AAG>ACG p.K129T GLRA4_uc010nou.2_Missense_Mutation_p.K129T NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 precursor 129 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity 0 GAGGTCTGGCTTCCAGATAGA 0.512000 NRK 203447 broad.mit.edu 37 X 105178289 105178289 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:105178289T>C uc004emd.2 + 20 3655 c.3352T>C c.(3352-3354)TCA>CCA p.S1118P NRK_uc010npc.1_Missense_Mutation_p.S786P NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1118 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 TGCCATTGACTCAGGTGCTGC 0.413000 HNSCC(51;0.14) MUM1L1 139221 broad.mit.edu 37 X 105450021 105450021 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:105450021T>A uc004emf.1 + 4 1245 c.596T>A c.(595-597)CTT>CAT p.L199H MUM1L1_uc004emg.1_Missense_Mutation_p.L199H NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 199 ovary(2)|pancreas(1)|skin(1) 4 TTCCCTTCACTTTCGGAAGAT 0.383000 MID2 11043 broad.mit.edu 37 X 107167580 107167580 + Nonsense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:107167580T>A uc004enl.2 + 8 2016 c.1443T>A c.(1441-1443)TAT>TAA p.Y481* MID2_uc004enk.2_Nonsense_Mutation_p.Y451* NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 481 Fibronectin type-III. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 CAGGCCTGTATAATTCAGTAG 0.433000 TEX13B 56156 broad.mit.edu 37 X 107225022 107225022 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:107225022C>T uc004enn.1 - 2 429 c.336G>A c.(334-336)ACG>ACA p.T112T NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 112 ovary(1) 1 CCTTGAGTTCCGTCAGGTTTG 0.582000 COL4A5 1287 broad.mit.edu 37 X 107863537 107863537 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:107863537T>A uc004enz.1 + 31 2760 c.2558T>A c.(2557-2559)CTT>CAT p.L853H COL4A5_uc011mso.1_Missense_Mutation_p.L853H|COL4A5_uc004eob.1_Missense_Mutation_p.L461H NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 853 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 CCTCCTGGACTTGATGTTCCA 0.483000 Alport_syndrome_with_Diffuse_Leiomyomatosis CAPN6 827 broad.mit.edu 37 X 110489860 110489860 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:110489860T>C uc004epc.1 - 13 2039 c.1871A>G c.(1870-1872)AAG>AGG p.K624R CAPN6_uc011msu.1_Missense_Mutation_p.K369R NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 624 microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 GTGGCCTTGCTTGACTTTGGC 0.507000 ATP1B4 23439 broad.mit.edu 37 X 119509228 119509228 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:119509228T>G uc004esr.2 + 5 648 c.564T>G c.(562-564)GGT>GGG p.G188G ATP1B4_uc004esq.2_Silent_p.G184G|ATP1B4_uc011mtx.1_Silent_p.G153G|ATP1B4_uc011mty.1_Silent_p.G145G NM_001142447 NP_001135919 Q9UN42 AT1B4_HUMAN ATPase, (Na+)/K+ transporting, beta 4 188 Perinuclear space (Potential). ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity ovary(1)|skin(1) 2 ATGCTTTAGGTTATAATGACA 0.493000 GLUD2 2747 broad.mit.edu 37 X 120182312 120182312 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:120182312A>T uc004eto.2 + 1 851 c.774A>T c.(772-774)AAA>AAT p.K258N NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 258 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) TTACTGGTAAACCCATCAGCC 0.488000 GRIA3 2892 broad.mit.edu 37 X 122616702 122616702 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:122616702T>C uc004etq.3 + 16 2785 c.2492T>C c.(2491-2493)CTT>CCT p.L831P GRIA3_uc004etr.3_Missense_Mutation_p.L831P|GRIA3_uc004ets.3_RNA NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 831 Helical; (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) TTCTATATACTTGTCGGAGGT 0.468000 ODZ1 10178 broad.mit.edu 37 X 123680875 123680875 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:123680875A>G uc004euj.2 - 15 2564 c.2500T>C c.(2500-2502)TGC>CGC p.C834R ODZ1_uc011muj.1_Missense_Mutation_p.C833R|ODZ1_uc010nqy.2_Missense_Mutation_p.C834R NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 834 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 GAGCCCTGGCAGAGAGGACTT 0.398000 USP26 83844 broad.mit.edu 37 X 132160803 132160803 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:132160803A>G uc010nrm.1 - 6 1916 c.1446T>C c.(1444-1446)ACT>ACC p.T482T USP26_uc011mvf.1_Silent_p.T482T NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 482 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) AAAGATCAAAAGTAGACTGAA 0.393000 GPR112 139378 broad.mit.edu 37 X 135430503 135430503 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:135430503T>G uc004ezu.1 + 6 4929 c.4638T>G c.(4636-4638)GGT>GGG p.G1546G GPR112_uc010nsb.1_Silent_p.G1341G|GPR112_uc010nsc.1_Silent_p.G1313G NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1546 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TGCATCCAGGTTGTTTGAAAA 0.423000 GPR112 139378 broad.mit.edu 37 X 135488095 135488095 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:135488095T>G uc004ezu.1 + 23 9190 c.8899T>G c.(8899-8901)TTC>GTC p.F2967V GPR112_uc010nsb.1_Missense_Mutation_p.F2762V NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2967 Helical; Name=7; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) GAGGAACTTTTTCTTGTATTT 0.438000 AFF2 2334 broad.mit.edu 37 X 148037396 148037396 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:148037396A>G uc004fcp.2 + 11 2300 c.1821A>G c.(1819-1821)ACA>ACG p.T607T AFF2_uc004fcq.2_Silent_p.T597T|AFF2_uc004fcr.2_Silent_p.T568T|AFF2_uc011mxb.1_Silent_p.T572T|AFF2_uc004fcs.2_Silent_p.T574T|AFF2_uc011mxc.1_Silent_p.T248T NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 607 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TTCCAGAAACAAAGGCTTTGA 0.473000 MAMLD1 10046 broad.mit.edu 37 X 149671655 149671655 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:149671655A>G uc004fee.1 + 5 2228 c.2152A>G c.(2152-2154)AGC>GGC p.S718G MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Missense_Mutation_p.S693G|MAMLD1_uc011mxw.1_Missense_Mutation_p.S604G NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 718 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) CCTGCCCGGCAGCTCCTTTGC 0.612000 ZNF185 7739 broad.mit.edu 37 X 152100279 152100279 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:152100279T>A uc010ntv.1 + 13 1015 c.978T>A c.(976-978)GCT>GCA p.A326A ZNF185_uc011myg.1_Silent_p.A326A|ZNF185_uc011myh.1_Silent_p.A297A|ZNF185_uc011myi.1_Silent_p.A297A|ZNF185_uc011myj.1_Silent_p.A267A|ZNF185_uc011myk.1_Silent_p.A327A|ZNF185_uc004fgw.3_Silent_p.A105A|ZNF185_uc004fgu.2_Intron|ZNF185_uc004fgv.2_Silent_p.A23A NM_007150 NP_009081 O15231 ZN185_HUMAN zinc finger protein 185 326 cytoplasm|cytoskeleton|focal adhesion zinc ion binding ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) GGGACTTGGCTGGTGAGGAGG 0.552000 TMLHE 55217 broad.mit.edu 37 X 154736703 154736703 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chrX:154736703T>G uc004fnn.2 - 6 1017 c.851A>C c.(850-852)AAG>ACG p.K284T TMLHE_uc004fno.2_Missense_Mutation_p.K284T|TMLHE_uc004fnp.3_Missense_Mutation_p.K284T NM_018196 NP_060666 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 284 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity ovary(1) 1 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) CTCAGGTGCCTTTTGAAGTAC 0.418000 MYLK3 91807 broad.mit.edu 37 16 46755107 46755107 + Splice_Site DEL T T - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:46755106_46755106CT>C uc002eei.4 - 9 2031 c.1915_splice c.e9-1 p.P639_splice MYLK3_uc010vge.2_Splice_Site_p.P298_splice NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 639 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TGTTCTCCGGCTGGGAAAGAA 0.463 DMXL1 1657 broad.mit.edu 37 5 118502338 118502339 + Frame_Shift_Ins INS - - T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:118502338_118502339insT uc003ksd.2 + 22 5179_5180 c.4998_4999insT c.(4996-5001)CAGTTTfs p.Q1666fs DMXL1_uc010jcl.1_Frame_Shift_Ins_p.Q1666fs NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1666_1667 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GGATGACACAGTTTTTTGGACA 0.327 USH2A 7399 broad.mit.edu 37 1 215972273 215972275 + In_Frame_Del DEL CTT CTT - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr1:215972272_215972274CCTT>C uc001hku.1 - 49 10320_10322 c.9933_9935AAGG>G c.(9931-9936)gaagga>gaGa p.G3312del NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3312 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.E3311D(2)|p.G3312E(2) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTACACCACTCCTTCTTCTCCAC 0.498 HNSCC(13;0.011) NEUROD1 4760 broad.mit.edu 37 2 182542972 182542973 + Frame_Shift_Ins INS - - G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr2:182542971_182542972T>TG uc021vto.1 - 0 616_617 c.616_617A>CA c.(616-618)cacfs p.H206fs CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Frame_Shift_Ins_p.H206fs|NEUROD1_uc021vtn.1_Frame_Shift_Ins_p.H206fs NM_002500 NP_002491 Q13562 NDF1_HUMAN Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA. 206 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) CGTCGGCAGGTGGGGGGGCATG 0.619 KIAA0947 23379 broad.mit.edu 37 5 5460799 5460799 + Frame_Shift_Del DEL A A - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:5460798_5460798GA>G uc003jdm.4 + 12 1573 c.1351_1351GA>G c.(1351-1353)gaafs p.E451fs NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN Homo sapiens KIAA0947 (KIAA0947), mRNA. 451 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AACACTGAGAGAATCTTCTGC 0.413 DMXL1 1657 broad.mit.edu 37 5 118502339 118502340 + Frame_Shift_Ins INS - - T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr5:118502338_118502339G>GT uc010jcl.1 + 21 5179_5180 c.4998_4999G>GT c.(4996-5001)cagtttfs p.Q1666fs DMXL1_uc003ksd.2_Frame_Shift_Ins_p.Q1666fs|DMXL1_uc021ycw.1_Frame_Shift_Ins_p.Q1493fs NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Homo sapiens Dmx-like 1 (DMXL1), mRNA. 1666 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GGATGACACAGTTTTTTGGACA 0.327 PHF10 55274 broad.mit.edu 37 6 170105268 170105268 + Frame_Shift_Del DEL A A - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr6:170105267_170105267TA>T uc011egy.2 - 10 1452 c.1373_1373TA>A c.(1372-1374)tatfs p.Y458fs C6orf120_uc003qxb.3_3'UTR|PHF10_uc011egz.2_Frame_Shift_Del_p.Y456fs NM_018288 NP_060758 Q8WUB8 PHF10_HUMAN Homo sapiens PHD finger protein 10 (PHF10), transcript variant 1, mRNA. 458 nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent npBAF complex zinc ion binding endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1) 14 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) AAAAGTATGATAACCTCTGTC 0.403 TFAM 7019 broad.mit.edu 37 10 60154155 60154156 + Frame_Shift_Del DEL TG TG - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:60154154_60154155CTG>C uc001jkf.3 + 5 706_707 c.574_575CTG>C c.(574-576)ctgfs p.L192fs TFAM_uc001jkg.3_Non-coding_Transcript NM_003201 NP_003192 Q00059 TFAM_HUMAN Homo sapiens transcription factor A, mitochondrial (TFAM), nuclear gene encoding mitochondrial protein, mRNA. 192 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 CTGGAAAAATCTGTCTGACTCT 0.356 LIPF 8513 broad.mit.edu 37 10 90427074 90427075 + Frame_Shift_Ins INS - - TGGCAAGTTT TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr10:90427073_90427074A>ATGGCAAGTTT uc001kfg.2 + 1 133_134 c.19_20A>ATGGCAAGTTT c.(19-21)atgfs p.M7fs LIPF_uc009xtk.3_Frame_Shift_Ins_p.M7fs|LIPF_uc001kfh.2_Frame_Shift_Ins_p.M17fs|LIPF_uc010qmt.2_Frame_Shift_Ins_p.M17fs|LIPF_uc010qmu.2_Frame_Shift_Ins_p.M7fs NM_004190 NP_004181 P07098 LIPG_HUMAN Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA. 7 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) GCTTTTAACAATGGCAAGTTTG 0.381 OR10A6 390093 broad.mit.edu 37 11 7950098 7950098 + Frame_Shift_Del DEL T T - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr11:7950097_7950097GT>G uc010rbh.2 - 0 113 c.113_113AC>C c.(112-114)accfs p.T38fs NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA. 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V37L(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCCTATCAGGGTCACCAGATA 0.468 MYLK3 91807 broad.mit.edu 37 16 46755107 46755107 + Splice_Site DEL T T - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a g.chr16:46755106_46755106CT>C uc002eei.4 - 9 2031 c.1915_splice c.e9-1 p.P639_splice MYLK3_uc010vge.2_Splice_Site_p.P298_splice NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 639 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TGTTCTCCGGCTGGGAAAGAA 0.463