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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter DVL1 1855 broad.mit.edu 37 1 1273368 1273368 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:1273368T>A uc001aer.3 - 14 1675 c.1628A>T c.(1627-1629)CAG>CTG p.Q543L DVL1_uc002quu.2_Missense_Mutation_p.Q285L|DVL1_uc009vka.2_Missense_Mutation_p.Q226L|DVL1_uc001aeu.1_Missense_Mutation_p.Q302L NM_004421 NP_004412 O14640 DVL1_HUMAN dishevelled 1 568 canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TTCACTCTGCTGACTCCCGGT 0.488 3 6 --- --- --- --- PASS KCNAB2 8514 broad.mit.edu 37 1 6133813 6133813 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:6133813G>A uc009vlv.1 + 5 319 c.184G>A c.(184-186)GGC>AGC p.G62S KCNAB2_uc001alv.1_Missense_Mutation_p.G62S|KCNAB2_uc001alw.1_Missense_Mutation_p.G48S|KCNAB2_uc001alx.1_Missense_Mutation_p.G62S|KCNAB2_uc001aly.1_Missense_Mutation_p.G95S|KCNAB2_uc009vlw.1_5'UTR|KCNAB2_uc001alu.2_Missense_Mutation_p.G62S NM_003636 NP_003627 Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related 62 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) GACCTTCGGAGGCCAGATCAC 0.597 25 102 --- --- --- --- PASS KCNAB2 8514 broad.mit.edu 37 1 6155592 6155592 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:6155592G>T uc009vlv.1 + 13 847 c.712G>T c.(712-714)GTG>TTG p.V238L KCNAB2_uc001alv.1_Missense_Mutation_p.V238L|KCNAB2_uc001alw.1_Missense_Mutation_p.V224L|KCNAB2_uc001alx.1_Missense_Mutation_p.V238L|KCNAB2_uc001aly.1_Missense_Mutation_p.V286L|KCNAB2_uc009vlw.1_Missense_Mutation_p.V171L|KCNAB2_uc001alu.2_Missense_Mutation_p.V238L NM_003636 NP_003627 Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related 238 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) CTCTTCAGGAGTGGGCGCCAT 0.632 19 51 --- --- --- --- PASS NOL9 79707 broad.mit.edu 37 1 6586794 6586794 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:6586794C>T uc001ans.2 - 11 1940 c.1921G>A c.(1921-1923)GGA>AGA p.G641R NOL9_uc010nzs.1_RNA NM_024654 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 641 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding skin(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) GCAATAGCTCCAACGAGCAGA 0.567 44 105 --- --- --- --- PASS ERRFI1 54206 broad.mit.edu 37 1 8073377 8073377 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:8073377C>A uc001aoz.2 - 4 1531 c.1282G>T c.(1282-1284)GCT>TCT p.A428S NM_018948 NP_061821 Q9UJM3 ERRFI_HUMAN mitogen-inducible gene 6 protein 428 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus protein kinase binding|Rho GTPase activator activity ovary(1) 1 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CCGCAGTCAGCAGGTAATGGC 0.433 28 79 --- --- --- --- PASS SLC45A1 50651 broad.mit.edu 37 1 8384421 8384421 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:8384421G>T uc001apb.2 + 1 32 c.32G>T c.(31-33)GGA>GTA p.G11V NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 11 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) ACCCCGCCGGGAGATGCCCTC 0.677 23 70 --- --- --- --- PASS FBXO44 93611 broad.mit.edu 37 1 11721303 11721303 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:11721303C>T uc001asm.2 + 6 867 c.741C>T c.(739-741)AGC>AGT p.S247S FBXO44_uc001ask.2_Missense_Mutation_p.H206Y|FBXO44_uc001asl.2_Silent_p.S247S|FBXO44_uc001asn.2_Missense_Mutation_p.H206Y|FBXO44_uc010oar.1_Missense_Mutation_p.H238Y|FBXO44_uc010oas.1_Silent_p.S107S|FBXO6_uc001aso.2_5'Flank NM_033182 NP_149438 Q9H4M3 FBX44_HUMAN F-box protein 44 isoform 1 247 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding ovary(1) 1 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;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CCAACAGCAGCATCACCATCG 0.637 27 60 --- --- --- --- PASS KIAA2013 90231 broad.mit.edu 37 1 11983154 11983154 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:11983154C>A uc001atk.2 - 2 1620 c.1426G>T c.(1426-1428)GTG>TTG p.V476L KIAA2013_uc001atl.1_Missense_Mutation_p.V476L NM_138346 NP_612355 Q8IYS2 K2013_HUMAN hypothetical protein LOC90231 precursor 476 Extracellular (Potential). integral to membrane ovary(1) 1 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTGTGCAGCACGTCGGGGTCG 0.612 13 48 --- --- --- --- PASS PRAMEF1 65121 broad.mit.edu 37 1 12854133 12854133 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:12854133C>A uc001auj.1 + 3 460 c.357C>A c.(355-357)GCC>GCA p.A119A NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 119 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGCCTGGAGCCTGGGCCCTGT 0.537 80 304 --- --- --- --- PASS PRAMEF8 391002 broad.mit.edu 37 1 12979866 12979866 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:12979866T>C uc001aup.2 + 4 1141 c.1058T>C c.(1057-1059)CTG>CCG p.L353P NM_001012276 NP_001012276 Q5VWM4 PRAM8_HUMAN PRAME family member 8 353 LRR 2. 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGCAGACCCTGGACTTAGAG 0.592 12 72 --- --- --- --- PASS CLCNKA 1187 broad.mit.edu 37 1 16353885 16353885 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:16353885G>A uc001axu.2 + 8 816 c.736G>A c.(736-738)GGG>AGG p.G246R CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.G246R|CLCNKA_uc010obw.1_Missense_Mutation_p.G203R|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank NM_004070 NP_004061 P51800 CLCKA_HUMAN chloride channel Ka isoform 1 246 Helical; (Potential). excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) GGCCACCTGCGGGGCCTTCAT 0.657 46 97 --- --- --- --- PASS CROCC 9696 broad.mit.edu 37 1 17266410 17266410 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:17266410G>T uc001azt.2 + 13 1699 c.1630G>T c.(1630-1632)GCA>TCA p.A544S CROCC_uc009voy.1_Missense_Mutation_p.A247S|CROCC_uc009voz.1_Missense_Mutation_p.A307S|CROCC_uc001azu.2_5'UTR NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 544 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GCGCTATGAGGCAAGCCAGGA 0.657 6 59 --- --- --- --- PASS CROCC 9696 broad.mit.edu 37 1 17296397 17296397 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:17296397G>C uc001azt.2 + 33 5488 c.5419G>C c.(5419-5421)GAG>CAG p.E1807Q CROCC_uc001azu.2_Missense_Mutation_p.E1110Q|CROCC_uc001azv.2_Missense_Mutation_p.E143Q NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 1807 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GCAGCGGGTGGAGGCCGAGGG 0.662 10 32 --- --- --- --- PASS RCC2 55920 broad.mit.edu 37 1 17739593 17739593 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:17739593C>A uc001bal.2 - 9 1336 c.1289G>T c.(1288-1290)TGG>TTG p.W430L RCC2_uc001bam.2_Missense_Mutation_p.W430L NM_001136204 NP_001129676 Q9P258 RCC2_HUMAN regulator of chromosome condensation 2 430 RCC1 6. cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle 0 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) CCGGATTCTCCAGCCGCAGAG 0.567 13 32 --- --- --- --- PASS TMCO4 255104 broad.mit.edu 37 1 20067393 20067393 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:20067393C>A uc001bcn.2 - 11 1161 c.919G>T c.(919-921)GAG>TAG p.E307* TMCO4_uc001bcm.2_Intron|TMCO4_uc001bco.1_Nonsense_Mutation_p.E307*|TMCO4_uc001bcp.1_Nonsense_Mutation_p.E267* NM_181719 NP_859070 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 307 integral to membrane 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) CAGTACTGCTCACGGCTGTGG 0.632 3 47 --- --- --- --- PASS KIF17 57576 broad.mit.edu 37 1 21042056 21042056 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:21042056C>A uc001bdr.3 - 2 426 c.308G>T c.(307-309)GGC>GTC p.G103V KIF17_uc001bds.3_Missense_Mutation_p.G103V NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 103 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) ATCCGGCAGGCCCTGCATGGT 0.657 26 67 --- --- --- --- PASS EIF4G3 8672 broad.mit.edu 37 1 21144032 21144032 + Splice_Site SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:21144032C>G uc001bec.2 - 29 4457 c.4201_splice c.e29-1 p.K1401_splice EIF4G3_uc010odi.1_Splice_Site_p.K1005_splice|EIF4G3_uc010odj.1_Splice_Site_p.K1400_splice|EIF4G3_uc009vpz.2_Splice_Site_p.K1121_splice|EIF4G3_uc001bed.2_Splice_Site_p.K1401_splice|EIF4G3_uc001bef.2_Splice_Site_p.K1437_splice|EIF4G3_uc001bee.2_Splice_Site_p.K1407_splice NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) AGTCCAACTTCTGAAACATAA 0.363 18 54 --- --- --- --- PASS CELA3B 23436 broad.mit.edu 37 1 22307651 22307651 + Silent SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:22307651G>C uc001bfk.2 + 4 463 c.348G>C c.(346-348)TCG>TCC p.S116S CELA3B_uc009vqf.2_Intron NM_007352 NP_031378 P08861 CEL3B_HUMAN elastase 3B, pancreatic preproprotein 116 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 GGAACCGCTCGTGTGTGGCCT 0.592 28 91 --- --- --- --- PASS EPHA8 2046 broad.mit.edu 37 1 22921766 22921766 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:22921766G>T uc001bfx.1 + 8 1772 c.1647G>T c.(1645-1647)ACG>ACT p.T549T NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 549 Helical; (Potential). integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCTGCCTGACGCTCATCACGG 0.647 8 33 --- --- --- --- PASS LUZP1 7798 broad.mit.edu 37 1 23420350 23420350 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:23420350G>A uc001bgk.2 - 4 789 c.405C>T c.(403-405)ACC>ACT p.T135T LUZP1_uc010odv.1_Silent_p.T135T|LUZP1_uc001bgl.2_Silent_p.T135T|LUZP1_uc001bgm.1_Silent_p.T135T NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 135 Potential. nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) GACACAGCTGGGTACAGTCAT 0.463 29 82 --- --- --- --- PASS HNRNPR 10236 broad.mit.edu 37 1 23637164 23637164 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:23637164C>T uc001bgr.3 - 11 1844 c.1685G>A c.(1684-1686)CGG>CAG p.R562Q HNRNPR_uc001bgo.2_Missense_Mutation_p.R172Q|HNRNPR_uc001bgp.3_Missense_Mutation_p.R565Q|HNRNPR_uc009vqk.2_Missense_Mutation_p.R464Q|HNRNPR_uc001bgs.3_Missense_Mutation_p.R461Q|HNRNPR_uc010odw.1_Missense_Mutation_p.R524Q|HNRNPR_uc010odx.1_Missense_Mutation_p.R402Q|HNRNPR_uc009vql.2_Missense_Mutation_p.R423Q NM_005826 NP_005817 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 562 RNA-binding RGG-box. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) ACGATTGCCCCGAGATCCACG 0.587 35 136 --- --- --- --- PASS SEPN1 57190 broad.mit.edu 37 1 26142208 26142208 + Nonstop_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:26142208A>G uc010oer.1 + 16 1827 c.1772A>G c.(1771-1773)TAG>TGG p.*591W SEPN1_uc010oes.1_Nonstop_Mutation_p.*557W NM_020451 NP_065184 Q9NZV5 SELN_HUMAN selenoprotein N, 1 isoform 1 precursor 591 endoplasmic reticulum membrane|extracellular region protein binding ovary(2) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) CTCCAGCCCTAGAGTGCCTGG 0.632 37 94 --- --- --- --- PASS PAQR7 164091 broad.mit.edu 37 1 26189347 26189347 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:26189347G>A uc001bkx.2 - 2 1651 c.984C>T c.(982-984)CTC>CTT p.L328L NM_178422 NP_848509 Q86WK9 MPRA_HUMAN progestin and adipoQ receptor family member VII 328 Helical; Name=7; (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding breast(3) 3 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649) GGAATGCAGTGAGGATGCTGC 0.577 26 54 --- --- --- --- PASS EXTL1 2134 broad.mit.edu 37 1 26349777 26349777 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:26349777C>A uc001blf.2 + 1 1507 c.640C>A c.(640-642)CAG>AAG p.Q214K NM_004455 NP_004446 Q92935 EXTL1_HUMAN exostoses-like 1 214 Lumenal (Potential). skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) GGCTCCTGGCCAGCTGCGGCA 0.697 7 24 --- --- --- --- PASS SLC9A1 6548 broad.mit.edu 37 1 27434310 27434310 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:27434310T>A uc001bnm.2 - 4 1737 c.1111A>T c.(1111-1113)ATC>TTC p.I371F SLC9A1_uc010ofk.1_Missense_Mutation_p.I32F|SLC9A1_uc001bnn.2_Missense_Mutation_p.I371F NM_003047 NP_003038 P19634 SL9A1_HUMAN solute carrier family 9, isoform A1 371 Extracellular (Potential). regulation of pH integral to membrane sodium:hydrogen antiporter activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) TTGTGGGAGATGTTGGCCTCC 0.597 7 7 --- --- --- --- PASS FCN3 8547 broad.mit.edu 37 1 27700903 27700903 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:27700903G>T uc001boa.2 - 2 137 c.131C>A c.(130-132)CCC>CAC p.P44H FCN3_uc001bob.2_Missense_Mutation_p.P44H NM_003665 NP_003656 O75636 FCN3_HUMAN ficolin 3 isoform 1 precursor 44 complement activation, lectin pathway|signal transduction collagen|extracellular space receptor binding|sugar binding 0 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GGGACAACTGGGCAGGAGGAC 0.622 14 60 --- --- --- --- PASS BAI2 576 broad.mit.edu 37 1 32196882 32196882 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:32196882C>A uc001btn.2 - 29 4253 c.3899G>T c.(3898-3900)GGG>GTG p.G1300V BAI2_uc001btm.2_Missense_Mutation_p.G294V|BAI2_uc001btp.1_Missense_Mutation_p.G294V|BAI2_uc010ogn.1_Missense_Mutation_p.G270V|BAI2_uc010ogo.1_Missense_Mutation_p.G909V|BAI2_uc010ogp.1_Missense_Mutation_p.G1233V|BAI2_uc010ogq.1_Missense_Mutation_p.G1267V|BAI2_uc001bto.2_Missense_Mutation_p.G1300V NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1300 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) CAGGATATTCCCAGGCAGTGG 0.657 6 16 --- --- --- --- PASS SPOCD1 90853 broad.mit.edu 37 1 32259485 32259485 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:32259485C>T uc001bts.1 - 12 2455 c.2397G>A c.(2395-2397)TCG>TCA p.S799S SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btt.2_Silent_p.S104S|SPOCD1_uc001btu.2_Silent_p.S799S|SPOCD1_uc001btv.2_Silent_p.S292S NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 799 transcription, DNA-dependent ovary(5)|breast(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) GCAGCTCATTCGAGGGCTCCC 0.582 49 176 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34006158 34006158 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:34006158C>T uc001bxn.1 - 59 9195 c.9166G>A c.(9166-9168)GGG>AGG p.G3056R CSMD2_uc001bxm.1_Missense_Mutation_p.G3200R NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3056 Sushi 23.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTCCAGGACCCATTTCCCTCA 0.587 34 98 --- --- --- --- PASS EIF2C4 192670 broad.mit.edu 37 1 36298081 36298081 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:36298081G>T uc001bzj.1 + 11 1479 c.1289G>T c.(1288-1290)CGA>CTA p.R430L NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN eukaryotic translation initiation factor 2C, 4 430 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGGGACATGCGAGGAAAGCAG 0.318 26 62 --- --- --- --- PASS CSF3R 1441 broad.mit.edu 37 1 36939205 36939205 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:36939205C>A uc001caw.1 - 6 682 c.504G>T c.(502-504)CAG>CAT p.Q168H CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.Q168H|CSF3R_uc001cax.1_Missense_Mutation_p.Q168H|CSF3R_uc001cay.1_Missense_Mutation_p.Q168H NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 168 Fibronectin type-III 1.|Extracellular (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) CCCCTTGGGTCTGACAGTTGC 0.607 17 27 --- --- --- --- PASS CSF3R 1441 broad.mit.edu 37 1 36941175 36941175 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:36941175A>T uc001caw.1 - 4 342 c.164T>A c.(163-165)CTG>CAG p.L55Q CSF3R_uc001cav.1_Missense_Mutation_p.L55Q|CSF3R_uc001cax.1_Missense_Mutation_p.L55Q|CSF3R_uc001cay.1_Missense_Mutation_p.L55Q NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 55 Ig-like C2-type.|Extracellular (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) CTCCGGGTCCAGATGGCTGCA 0.612 17 47 --- --- --- --- PASS SNIP1 79753 broad.mit.edu 37 1 38005790 38005790 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:38005790A>T uc001cbi.2 - 3 967 c.894T>A c.(892-894)TCT>TCA p.S298S SNIP1_uc010oid.1_RNA NM_024700 NP_078976 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 298 FHA. production of miRNAs involved in gene silencing by miRNA nucleus protein binding upper_aerodigestive_tract(1)|lung(1) 2 Myeloproliferative disorder(586;0.0393) GCTTTGAACAAGACGGGTGAT 0.438 53 127 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39916832 39916832 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:39916832G>T uc010oiu.1 + 50 15827 c.15696G>T c.(15694-15696)CAG>CAT p.Q5232H MACF1_uc010ois.1_Missense_Mutation_p.Q4730H NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTGAGGACCAGCCCGTGCACG 0.547 18 56 --- --- --- --- PASS MFSD2A 84879 broad.mit.edu 37 1 40432551 40432551 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:40432551G>T uc001cev.2 + 8 1094 c.913G>T c.(913-915)GGC>TGC p.G305C MFSD2A_uc010ojb.1_Missense_Mutation_p.G253C|MFSD2A_uc001ceu.2_Missense_Mutation_p.G292C|MFSD2A_uc010ojc.1_Missense_Mutation_p.G136C|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_5'Flank NM_001136493 NP_001129965 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 305 transmembrane transport endoplasmic reticulum membrane|integral to membrane ovary(1)|pancreas(1) 2 CATGAGCCACGGCCCATACAT 0.562 39 96 --- --- --- --- PASS RLF 6018 broad.mit.edu 37 1 40701552 40701552 + Nonsense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:40701552C>G uc001cfc.3 + 8 1209 c.1178C>G c.(1177-1179)TCA>TGA p.S393* RLF_uc001cfd.3_Nonsense_Mutation_p.S84* NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 393 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) ATGAAGGCATCAGTTTGTAAA 0.393 36 82 --- --- --- --- PASS DEM1 64789 broad.mit.edu 37 1 40981204 40981204 + Nonsense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:40981204C>T uc001cfp.2 + 3 1193 c.988C>T c.(988-990)CGA>TGA p.R330* DEM1_uc001cfq.2_Nonsense_Mutation_p.R330*|DEM1_uc001cfr.2_Nonsense_Mutation_p.R330*|DEM1_uc001cfs.2_Nonsense_Mutation_p.R330* NM_022774 NP_073611 Q9H790 EXO5_HUMAN defects in morphology 1 homolog 330 DNA binding|exonuclease activity 0 GATGGGCCACCGAGAGCCCCA 0.557 12 43 --- --- --- --- PASS DEM1 64789 broad.mit.edu 37 1 40981278 40981278 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:40981278G>T uc001cfp.2 + 3 1267 c.1062G>T c.(1060-1062)TGG>TGT p.W354C DEM1_uc001cfq.2_Missense_Mutation_p.W354C|DEM1_uc001cfr.2_Missense_Mutation_p.W354C|DEM1_uc001cfs.2_Missense_Mutation_p.W354C NM_022774 NP_073611 Q9H790 EXO5_HUMAN defects in morphology 1 homolog 354 DNA binding|exonuclease activity 0 TTTGTGAGTGGAGAAAGGGCA 0.517 14 67 --- --- --- --- PASS EBNA1BP2 10969 broad.mit.edu 37 1 43632543 43632543 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:43632543C>A uc001cin.2 - 7 858 c.661G>T c.(661-663)GCA>TCA p.A221S EBNA1BP2_uc001cio.2_Missense_Mutation_p.A276S|EBNA1BP2_uc001cim.2_Missense_Mutation_p.A116S|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.A276S NM_006824 NP_006815 Q99848 EBP2_HUMAN EBNA1 binding protein 2 isoform 2 221 ribosome biogenesis membrane fraction|nucleolus protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTGCGCTGTGCCAGAGGTTTC 0.473 28 83 --- --- --- --- PASS MPL 4352 broad.mit.edu 37 1 43805701 43805701 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:43805701T>C uc001ciw.2 + 5 802 c.757T>C c.(757-759)TGG>CGG p.W253R MPL_uc001civ.2_Missense_Mutation_p.W253R|MPL_uc009vwr.2_Missense_Mutation_p.W246R NM_005373 NP_005364 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 253 Extracellular (Potential). cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1) 363 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CAACTCCTACTGGCTGCAGCT 0.597 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 17 51 --- --- --- --- PASS PTPRF 5792 broad.mit.edu 37 1 44085828 44085828 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:44085828G>T uc001cjr.2 + 30 5514 c.5174G>T c.(5173-5175)CGC>CTC p.R1725L PTPRF_uc001cjs.2_Missense_Mutation_p.R1716L|PTPRF_uc001cju.2_Missense_Mutation_p.R1114L|PTPRF_uc009vwt.2_Missense_Mutation_p.R1285L|PTPRF_uc001cjv.2_Missense_Mutation_p.R1196L|PTPRF_uc001cjw.2_Missense_Mutation_p.R951L NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1725 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GACTTCTGGCGCATGCTATGG 0.592 44 96 --- --- --- --- PASS KIF2C 11004 broad.mit.edu 37 1 45232789 45232789 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:45232789C>A uc001cmg.3 + 21 2231 c.2116C>A c.(2116-2118)CTG>ATG p.L706M KIF2C_uc010olb.1_Missense_Mutation_p.L665M|KIF2C_uc010olc.1_Missense_Mutation_p.L593M|KIF2C_uc001cmh.3_Missense_Mutation_p.L652M NM_006845 NP_006836 Q99661 KIF2C_HUMAN kinesin family member 2C 706 blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) GGCCTTGCGCCTGGCCATGCA 0.527 31 120 --- --- --- --- PASS ZCCHC11 23318 broad.mit.edu 37 1 52956403 52956403 + Splice_Site SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:52956403C>A uc001ctx.2 - 8 1622 c.1388_splice c.e8+1 p.S463_splice ZCCHC11_uc001cty.2_Splice_Site_p.S463_splice|ZCCHC11_uc001ctz.2_Splice_Site_p.S463_splice|ZCCHC11_uc009vze.1_Splice_Site_p.S463_splice|ZCCHC11_uc009vzf.1_Splice_Site_p.S222_splice|ZCCHC11_uc001cub.2_Splice_Site_p.S463_splice|ZCCHC11_uc001cuc.2_Splice_Site NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 TTGTTACCAACCTTTTTCGAT 0.294 17 52 --- --- --- --- PASS HSPB11 51668 broad.mit.edu 37 1 54395743 54395743 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:54395743C>A uc001cwh.2 - 3 250 c.174G>T c.(172-174)AGG>AGT p.R58S HSPB11_uc001cwi.1_Missense_Mutation_p.R58S NM_016126 NP_057210 Q9Y547 HSB11_HUMAN heat shock protein family B (small), member 11 58 cell adhesion|response to stress 0 GCCTTTCAATCCTTACATGTT 0.303 48 104 --- --- --- --- PASS C8A 731 broad.mit.edu 37 1 57340725 57340725 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:57340725G>A uc001cyo.2 + 3 407 c.275G>A c.(274-276)AGG>AAG p.R92K NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 92 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 ACTTGTGTAAGGCAAGCACAG 0.433 16 16 --- --- --- --- PASS DAB1 1600 broad.mit.edu 37 1 57602255 57602255 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:57602255G>A uc001cys.1 - 6 941 c.267C>T c.(265-267)ATC>ATT p.I89I DAB1_uc001cyt.1_Silent_p.I89I|DAB1_uc001cyq.1_Silent_p.I89I|DAB1_uc001cyr.1_Silent_p.I89I|DAB1_uc009vzw.1_Silent_p.I89I|DAB1_uc009vzx.1_Silent_p.I89I NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 89 PID. cell differentiation|nervous system development skin(2)|ovary(1) 3 CTCCAAAGGAGATGGTTAAAA 0.378 14 57 --- --- --- --- PASS FGGY 55277 broad.mit.edu 37 1 60073511 60073511 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:60073511G>T uc001czi.3 + 9 1152 c.940G>T c.(940-942)GGG>TGG p.G314W FGGY_uc001czg.2_Missense_Mutation_p.G202W|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.G314W|FGGY_uc001czj.3_Missense_Mutation_p.G313W|FGGY_uc001czk.3_Missense_Mutation_p.G202W|FGGY_uc001czl.3_Missense_Mutation_p.G226W|FGGY_uc001czm.3_Missense_Mutation_p.G15W NM_018291 NP_060761 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 314 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(1) 1 all_cancers(7;7.36e-05) AGGCGTCTGGGGGCCTTATTT 0.453 30 93 --- --- --- --- PASS INADL 10207 broad.mit.edu 37 1 62593659 62593659 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:62593659C>G uc001dab.2 + 40 5173 c.5059C>G c.(5059-5061)CTT>GTT p.L1687V INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.L471V NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1687 PDZ 10. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 CAGTGATGCCCTTGGAATCAG 0.428 21 64 --- --- --- --- PASS KANK4 163782 broad.mit.edu 37 1 62718789 62718789 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:62718789C>T uc001dah.3 - 8 3009 c.2632G>A c.(2632-2634)GTT>ATT p.V878I KANK4_uc001dai.3_Missense_Mutation_p.V250I|KANK4_uc001daf.3_Missense_Mutation_p.V16I|KANK4_uc001dag.3_Missense_Mutation_p.V234I NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 878 ANK 2. ovary(3)|skin(2)|lung(1) 6 TTCCAGACAACAGCCATGTCT 0.498 28 67 --- --- --- --- PASS KANK4 163782 broad.mit.edu 37 1 62734158 62734158 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:62734158C>T uc001dah.3 - 5 2409 c.2032G>A c.(2032-2034)GAG>AAG p.E678K KANK4_uc001dai.3_Missense_Mutation_p.E50K|KANK4_uc001dag.3_Missense_Mutation_p.E34K NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 678 ovary(3)|skin(2)|lung(1) 6 CTGGTCTCCTCACTTGAGGTG 0.562 17 46 --- --- --- --- PASS ROR1 4919 broad.mit.edu 37 1 64606046 64606046 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:64606046G>C uc001dbj.2 + 6 1264 c.865G>C c.(865-867)GAG>CAG p.E289Q ROR1_uc001dbi.3_Missense_Mutation_p.E289Q|uc001dbl.2_Intron NM_005012 NP_005003 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 289 FZ.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1) 19 CCCCCAGCCAGAGAGCCCAGA 0.463 15 78 --- --- --- --- PASS RAVER2 55225 broad.mit.edu 37 1 65243601 65243601 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:65243601G>T uc001dbs.1 + 3 690 c.612G>T c.(610-612)TTG>TTT p.L204F RAVER2_uc001dbt.1_Missense_Mutation_p.L83F|RAVER2_uc010opb.1_Missense_Mutation_p.L83F NM_018211 NP_060681 Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 204 RRM 2. cytoplasm|nucleus nucleotide binding|RNA binding large_intestine(1) 1 TGGAGCTATTGGGTAGACAGT 0.413 56 183 --- --- --- --- PASS DEPDC1 55635 broad.mit.edu 37 1 68947132 68947132 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:68947132C>A uc001dem.3 - 9 2043 c.1926G>T c.(1924-1926)ACG>ACT p.T642T DEPDC1_uc001dej.3_Silent_p.T10T|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Silent_p.T358T NM_001114120 NP_001107592 Q5TB30 DEP1A_HUMAN DEP domain containing 1 isoform a 642 Interaction with ZNF224. intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) CCAGTGACCTCGTACCCATTG 0.358 11 41 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70541817 70541817 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:70541817G>T uc001dep.2 + 22 4204 c.4174G>T c.(4174-4176)GAG>TAG p.E1392* LRRC7_uc009wbg.2_Nonsense_Mutation_p.E676*|LRRC7_uc001deq.2_Nonsense_Mutation_p.E586* NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1392 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TCGCAGCCGGGAGCAGCAGCC 0.527 16 53 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75036891 75036891 + Silent SNP A C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:75036891A>C uc001dgg.2 - 14 4722 c.4503T>G c.(4501-4503)CCT>CCG p.P1501P NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1501 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CAGTGAAATCAGGCTTCACTG 0.507 51 142 --- --- --- --- PASS SLC44A5 204962 broad.mit.edu 37 1 75684269 75684269 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:75684269G>C uc001dgu.2 - 17 1579 c.1435C>G c.(1435-1437)CTT>GTT p.L479V SLC44A5_uc001dgt.2_Missense_Mutation_p.L479V|SLC44A5_uc001dgs.2_Missense_Mutation_p.L437V|SLC44A5_uc001dgr.2_Missense_Mutation_p.L437V|SLC44A5_uc010oqz.1_Missense_Mutation_p.L518V|SLC44A5_uc010ora.1_Missense_Mutation_p.L473V|SLC44A5_uc010orb.1_Missense_Mutation_p.L349V NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 479 Helical; (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 GCACCAGCAAGGGCGCACTGA 0.428 40 110 --- --- --- --- PASS AK5 26289 broad.mit.edu 37 1 77759493 77759493 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:77759493C>A uc001dhn.2 + 3 520 c.263C>A c.(262-264)TCA>TAA p.S88* AK5_uc001dho.2_Nonsense_Mutation_p.S62*|AK5_uc001dhm.1_Intron NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 88 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 CCTGAAAACTCAAACTTTCCA 0.388 18 54 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79383371 79383371 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:79383371G>T uc001diq.3 - 12 1853 c.1697C>A c.(1696-1698)ACC>AAC p.T566N NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 566 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GTTGTTTTCGGTGCTAAGCCA 0.274 10 41 --- --- --- --- PASS CLCA2 9635 broad.mit.edu 37 1 86919105 86919105 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:86919105C>A uc001dlr.3 + 13 2371 c.2209C>A c.(2209-2211)CGA>AGA p.R737R NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 737 Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) TGAGGAGGAGCGAAAGTGGGG 0.448 14 75 --- --- --- --- PASS PKN2 5586 broad.mit.edu 37 1 89279243 89279243 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:89279243G>T uc001dmn.2 + 16 2448 c.2106G>T c.(2104-2106)CTG>CTT p.L702L PKN2_uc010osp.1_Silent_p.L686L|PKN2_uc010osq.1_Silent_p.L545L|PKN2_uc009wcv.2_Silent_p.L654L|PKN2_uc010osr.1_Silent_p.L367L NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 702 Protein kinase. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) TTTACAGCCTGATGTGTGAAA 0.269 24 82 --- --- --- --- PASS LRRC8B 23507 broad.mit.edu 37 1 90049959 90049959 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:90049959A>G uc001dni.2 + 7 2257 c.1750A>G c.(1750-1752)ATG>GTG p.M584V LRRC8B_uc001dnh.2_Missense_Mutation_p.M584V|LRRC8B_uc001dnj.2_Missense_Mutation_p.M584V NM_001134476 NP_001127948 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member 584 integral to membrane ovary(2) 2 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) CTTGAAAAAGATGGTCAATCT 0.443 16 39 --- --- --- --- PASS BRDT 676 broad.mit.edu 37 1 92441951 92441951 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:92441951G>C uc001dok.3 + 5 923 c.574G>C c.(574-576)GTA>CTA p.V192L BRDT_uc001dol.3_Missense_Mutation_p.V192L|BRDT_uc010osz.1_Missense_Mutation_p.V196L|BRDT_uc009wdf.2_Missense_Mutation_p.V119L|BRDT_uc010ota.1_Missense_Mutation_p.V146L|BRDT_uc010otb.1_Missense_Mutation_p.V146L|BRDT_uc001dom.3_Missense_Mutation_p.V192L NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) CTTGAACGTGGTACAGGGAGC 0.373 20 69 --- --- --- --- PASS ABCA4 24 broad.mit.edu 37 1 94502905 94502905 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:94502905C>A uc001dqh.2 - 25 3713 c.3609G>T c.(3607-3609)GGG>GGT p.G1203G NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1203 Cytoplasmic. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CATTTACATCCCCTAGGACAA 0.443 28 68 --- --- --- --- PASS RWDD3 25950 broad.mit.edu 37 1 95709926 95709926 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:95709926C>G uc009wdu.2 + 2 321 c.245C>G c.(244-246)ACT>AGT p.T82S RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Missense_Mutation_p.T67S|RWDD3_uc009wdt.2_Missense_Mutation_p.T82S|RWDD3_uc001drf.3_Missense_Mutation_p.T82S|RWDD3_uc001drh.3_Missense_Mutation_p.T67S|RWDD3_uc009wdv.2_Intron|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Missense_Mutation_p.T82S NM_015485 NP_056300 Q9Y3V2 RWDD3_HUMAN RWD domain containing 3 isoform a 82 RWD. cytoplasm|nucleus protein binding ovary(1) 1 all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769) all cancers(265;0.112)|Epithelial(280;0.229) CAGTGTGTGACTGTGAAAGAG 0.458 26 88 --- --- --- --- PASS VCAM1 7412 broad.mit.edu 37 1 101190441 101190441 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:101190441T>C uc001dti.2 + 4 1043 c.923T>C c.(922-924)GTT>GCT p.V308A VCAM1_uc001dtj.2_Missense_Mutation_p.V308A|VCAM1_uc010ouj.1_Missense_Mutation_p.V246A NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 308 Ig-like C2-type 3.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GAATTAATTGTTCAAGGTGAG 0.373 15 34 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103347304 103347304 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:103347304C>G uc001dul.2 - 65 5307 c.4989G>C c.(4987-4989)TGG>TGC p.W1663C COL11A1_uc001duk.2_Missense_Mutation_p.W859C|COL11A1_uc001dum.2_Missense_Mutation_p.W1675C|COL11A1_uc001dun.2_Missense_Mutation_p.W1624C|COL11A1_uc009weh.2_Missense_Mutation_p.W1547C NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1663 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCTCCTTTGGCCATGATGAAA 0.318 12 52 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103381204 103381204 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:103381204C>A uc001dul.2 - 50 4117 c.3799G>T c.(3799-3801)GGG>TGG p.G1267W COL11A1_uc001duk.2_Missense_Mutation_p.G463W|COL11A1_uc001dum.2_Missense_Mutation_p.G1279W|COL11A1_uc001dun.2_Missense_Mutation_p.G1228W|COL11A1_uc009weh.2_Missense_Mutation_p.G1151W NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1267 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCTGCTTCCCCAGGAGGCCCT 0.363 38 108 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103428316 103428316 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:103428316C>A uc001dul.2 - 39 3235 c.2917G>T c.(2917-2919)GGA>TGA p.G973* COL11A1_uc001duk.2_Nonsense_Mutation_p.G169*|COL11A1_uc001dum.2_Nonsense_Mutation_p.G985*|COL11A1_uc001dun.2_Nonsense_Mutation_p.G934*|COL11A1_uc009weh.2_Nonsense_Mutation_p.G857* NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 973 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCGGTTGGTCCCTAAATTAGA 0.428 22 64 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103444657 103444657 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:103444657C>A uc001dul.2 - 33 2932 c.2614G>T c.(2614-2616)GTA>TTA p.V872L COL11A1_uc001duk.2_Missense_Mutation_p.V68L|COL11A1_uc001dum.2_Missense_Mutation_p.V884L|COL11A1_uc001dun.2_Missense_Mutation_p.V833L|COL11A1_uc009weh.2_Missense_Mutation_p.V756L NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 872 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTGCCAGCTACTCCCTAGCAA 0.393 15 56 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103444981 103444981 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:103444981C>A uc001dul.2 - 32 2885 c.2567G>T c.(2566-2568)GGA>GTA p.G856V COL11A1_uc001duk.2_Missense_Mutation_p.G52V|COL11A1_uc001dum.2_Missense_Mutation_p.G868V|COL11A1_uc001dun.2_Missense_Mutation_p.G817V|COL11A1_uc009weh.2_Missense_Mutation_p.G740V NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 856 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCCAGGGAATCCAGTGGAACC 0.308 16 58 --- --- --- --- PASS PSRC1 84722 broad.mit.edu 37 1 109824326 109824326 + Missense_Mutation SNP G A A rs148605172 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:109824326G>A uc001dxg.2 - 4 556 c.434C>T c.(433-435)ACG>ATG p.T145M PSRC1_uc001dxb.2_Translation_Start_Site|PSRC1_uc001dxc.2_Missense_Mutation_p.T145M|PSRC1_uc001dxd.2_Missense_Mutation_p.T145M|PSRC1_uc001dxe.2_Missense_Mutation_p.T145M|PSRC1_uc001dxf.2_Missense_Mutation_p.T145M|PSRC1_uc001dxh.2_Missense_Mutation_p.T145M|PSRC1_uc001dxi.2_Missense_Mutation_p.T145M|PSRC1_uc001dxj.2_Missense_Mutation_p.T145M NM_001032290 NP_001027461 Q6PGN9 PSRC1_HUMAN proline/serine-rich coiled-coil 1 isoform c 145 4 X 4 AA repeats of P-X-X-P. cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization cytosol|midbody|spindle pole microtubule binding 0 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213) GAGTCGAGGCGTCAGGCTGCT 0.592 6 131 --- --- --- --- PASS KCNA2 3737 broad.mit.edu 37 1 111147092 111147092 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:111147092G>T uc001dzu.2 - 2 809 c.313C>A c.(313-315)CCC>ACC p.P105T KCNA2_uc009wfv.1_Missense_Mutation_p.P105T|KCNA2_uc009wfw.2_Missense_Mutation_p.P105T NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 105 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) ATATCTAAGGGCACATTCACA 0.478 20 45 --- --- --- --- PASS CAPZA1 829 broad.mit.edu 37 1 113197267 113197267 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:113197267G>A uc001ecj.1 + 5 792 c.400G>A c.(400-402)GAC>AAC p.D134N NM_006135 NP_006126 P52907 CAZA1_HUMAN F-actin capping protein alpha-1 subunit 134 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex|WASH complex actin 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) CTATGTGAAAGACCATTATTC 0.438 55 166 --- --- --- --- PASS AMPD1 270 broad.mit.edu 37 1 115220052 115220052 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:115220052C>A uc001efe.1 - 10 1392 c.1308G>T c.(1306-1308)TGG>TGT p.W436C AMPD1_uc001eff.1_Missense_Mutation_p.W432C NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 436 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) AGAGTTTGCTCCACTCATCAG 0.567 28 90 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118623765 118623765 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:118623765T>A uc001ehk.2 - 15 2236 c.2168A>T c.(2167-2169)CAG>CTG p.Q723L NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 723 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) GATGCTCTCCTGCTCTAACAG 0.343 48 135 --- --- --- --- PASS TBX15 6913 broad.mit.edu 37 1 119427626 119427626 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:119427626T>C uc001ehl.1 - 8 1535 c.1220A>G c.(1219-1221)AAC>AGC p.N407S TBX15_uc009whj.1_Missense_Mutation_p.N231S NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 513 nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GTTGTAAGGGTTGTGAAGGGA 0.532 12 28 --- --- --- --- PASS HSD3B2 3284 broad.mit.edu 37 1 119965138 119965138 + Silent SNP G T T rs116342586 by1000genomes TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:119965138G>T uc001ehs.2 + 3 1787 c.1014G>T c.(1012-1014)GCG>GCT p.A338A HSD3B2_uc001eht.2_Silent_p.A338A|HSD3B2_uc001ehu.2_Intron NM_000198 NP_000189 P26439 3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase 2 338 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GAGATCTGGCGTATAAGCCAC 0.517 18 47 --- --- --- --- PASS NBPF7 343505 broad.mit.edu 37 1 120384192 120384192 + Silent SNP G T T rs6656217 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:120384192G>T uc010oxk.1 - 3 991 c.370C>A c.(370-372)CGA>AGA p.R124R NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN hypothetical protein LOC343505 124 Potential. cytoplasm ovary(1)|skin(1) 2 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) ATCAGCTCTCGTTCCTGAGAG 0.448 55 151 --- --- --- --- PASS PPIAL4G 644591 broad.mit.edu 37 1 143767487 143767487 + Nonsense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:143767487C>T uc001ejt.2 - 1 395 c.362G>A c.(361-363)TGG>TAG p.W121* NM_001123068 NP_001116540 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 121 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity 0 GCCATCCAACCACTCAGTCTT 0.488 78 515 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144871797 144871797 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:144871797C>A uc001elw.3 - 32 5456 c.5165G>T c.(5164-5166)AGC>ATC p.S1722I 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_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.S729I NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1722 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) GCCAGTGGGGCTGAAAGGCAG 0.552 T PDGFRB MPD 82 166 --- --- --- --- PASS NOTCH2NL 388677 broad.mit.edu 37 1 145281564 145281564 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:145281564C>T uc001emn.3 + 4 864 c.494C>T c.(493-495)TCC>TTC p.S165F NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.S165F|NOTCH2NL_uc001emo.2_Missense_Mutation_p.S165F|NOTCH2NL_uc010oyh.1_RNA NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein 165 EGF-like 5; calcium-binding (Potential). cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 CTGCCTGGTTCCTACCAGTGC 0.577 28 239 --- --- --- --- PASS BOLA1 51027 broad.mit.edu 37 1 149871789 149871789 + Silent SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:149871789G>C uc001etf.2 + 2 298 c.177G>C c.(175-177)GCG>GCC p.A59A NM_016074 NP_057158 Q9Y3E2 BOLA1_HUMAN bolA-like 1 59 extracellular region protein binding ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GTGGCCACGCGGTCCCGCCTG 0.682 16 45 --- --- --- --- PASS OTUD7B 56957 broad.mit.edu 37 1 149943093 149943093 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:149943093C>G uc001etn.2 - 3 528 c.172G>C c.(172-174)GAG>CAG p.E58Q OTUD7B_uc001eto.2_Silent_p.V23V NM_020205 NP_064590 Q6GQQ9 OTU7B_HUMAN zinc finger protein Cezanne 58 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 Breast(34;0.0009)|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)|STAD - Stomach adenocarcinoma(528;0.247) CCACTCCCCTCACTAAAGGAT 0.542 55 71 --- --- --- --- PASS ANXA9 8416 broad.mit.edu 37 1 150958880 150958880 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:150958880G>T uc001ewa.2 + 8 1011 c.541G>T c.(541-543)GCC>TCC p.A181S NM_003568 NP_003559 O76027 ANXA9_HUMAN annexin A9 181 Annexin 2. cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity 0 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCTGCTGTTGGCCCTGGCCAA 0.577 25 48 --- --- --- --- PASS GABPB2 126626 broad.mit.edu 37 1 151070370 151070370 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:151070370A>T uc001ewr.2 + 5 845 c.514A>T c.(514-516)AAC>TAC p.N172Y GABPB2_uc010pcp.1_Missense_Mutation_p.N188Y|GABPB2_uc001ews.2_Missense_Mutation_p.N132Y|GABPB2_uc001ewt.2_Missense_Mutation_p.N71Y NM_144618 NP_653219 Q8TAK5 GABP2_HUMAN GA repeat binding protein, beta 2 172 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding 0 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) AGAGAGAGCCAACCCTGTGAC 0.413 48 102 --- --- --- --- PASS TCHHL1 126637 broad.mit.edu 37 1 152057894 152057894 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:152057894G>T uc001ezo.1 - 3 2329 c.2264C>A c.(2263-2265)GCA>GAA p.A755E NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 755 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) ACCTTCTCCTGCCAGCTCTTG 0.473 116 263 --- --- --- --- PASS TCHHL1 126637 broad.mit.edu 37 1 152058212 152058212 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:152058212G>T uc001ezo.1 - 3 2011 c.1946C>A c.(1945-1947)CCC>CAC p.P649H NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 649 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) GTGTCCATTGGGCTCCACAGC 0.537 108 193 --- --- --- --- PASS TCHH 7062 broad.mit.edu 37 1 152083673 152083673 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:152083673G>C uc001ezp.2 - 2 2020 c.2020C>G c.(2020-2022)CGC>GGC p.R674G TCHH_uc009wne.1_Missense_Mutation_p.R674G NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 674 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCATGCTCGCGCTTCAGCCGC 0.657 48 71 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152193146 152193146 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:152193146G>T uc001ezt.1 - 3 1035 c.959C>A c.(958-960)TCC>TAC p.S320Y NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 320 3. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCGTGGCTGGAGGAGTGCCC 0.607 51 66 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152286978 152286978 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:152286978C>T uc001ezu.1 - 3 420 c.384G>A c.(382-384)CTG>CTA p.L128L uc001ezv.2_Intron NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 128 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) TTCTTCTTTCCAGACTTGAGG 0.373 Ichthyosis 73 221 --- --- --- --- PASS CRNN 49860 broad.mit.edu 37 1 152382453 152382453 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:152382453C>A uc001ezx.2 - 3 1179 c.1105G>T c.(1105-1107)GGA>TGA p.G369* NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 369 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTAGCCCCTCCGTGGCTTACA 0.592 108 233 --- --- --- --- PASS KPRP 448834 broad.mit.edu 37 1 152732350 152732350 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:152732350G>T uc001fal.1 + 2 344 c.286G>T c.(286-288)GGC>TGC p.G96C NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 96 Gln-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGGTGAAGGGCCAGGCTGC 0.552 151 264 --- --- --- --- PASS GATAD2B 57459 broad.mit.edu 37 1 153791379 153791379 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:153791379C>A uc001fdb.3 - 4 729 c.485G>T c.(484-486)CGG>CTG p.R162L NM_020699 NP_065750 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 162 Potential. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AAGCTGCTGCCGCTCCTCAAT 0.468 65 95 --- --- --- --- PASS ADAR 103 broad.mit.edu 37 1 154574229 154574229 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:154574229C>A uc001ffh.2 - 2 1089 c.889G>T c.(889-891)GCC>TCC p.A297S ADAR_uc001ffj.2_Missense_Mutation_p.A297S|ADAR_uc001ffi.2_Missense_Mutation_p.A297S|ADAR_uc001ffk.2_Missense_Mutation_p.A2S|ADAR_uc001ffl.1_Missense_Mutation_p.A2S NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 297 DRADA 2. 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) TTGATCTCGGCCATGTCTAAA 0.468 59 151 --- --- --- --- PASS PMVK 10654 broad.mit.edu 37 1 154904862 154904862 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:154904862C>A uc001ffq.2 - 2 448 c.125G>T c.(124-126)CGG>CTG p.R42L NM_006556 NP_006547 Q15126 PMVK_HUMAN phosphomevalonate kinase 42 cholesterol biosynthetic process|protein phosphorylation cytosol|peroxisome ATP binding|phosphomevalonate kinase activity|protein binding 0 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142) BRCA - Breast invasive adenocarcinoma(34;0.00034) ACCAGAGAGCCGGAGGACAGC 0.552 25 51 --- --- --- --- PASS CCT3 7203 broad.mit.edu 37 1 156288776 156288776 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:156288776G>A uc001fol.1 - 8 862 c.642C>T c.(640-642)GTC>GTT p.V214V CCT3_uc001fom.1_Silent_p.V213V|CCT3_uc001fon.1_Silent_p.V176V|CCT3_uc010phj.1_Silent_p.V168V|CCT3_uc010phk.1_Silent_p.V168V|CCT3_uc010phl.1_Silent_p.V168V NM_005998 NP_005989 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 isoform a 214 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(266;0.158) CTCCACGCAAGACACAGGAGT 0.438 29 66 --- --- --- --- PASS TTC24 164118 broad.mit.edu 37 1 156553228 156553228 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:156553228C>A uc009wsc.1 + 3 438 c.298C>A c.(298-300)CTG>ATG p.L100M NM_001105669 NP_001099139 A2A3L6 TTC24_HUMAN tetratricopeptide repeat domain 24 380 TPR 8. binding pancreas(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TAAGGAAGCACTGGCCCAGTG 0.602 OREG0013875 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 15 --- --- --- --- PASS NES 10763 broad.mit.edu 37 1 156642011 156642011 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:156642011C>A uc001fpq.2 - 4 2102 c.1969G>T c.(1969-1971)GTA>TTA p.V657L NM_006617 NP_006608 P48681 NEST_HUMAN nestin 657 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGAGAACTTACTAATTCTTGA 0.408 33 74 --- --- --- --- PASS INSRR 3645 broad.mit.edu 37 1 156823971 156823971 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:156823971G>T uc010pht.1 - 2 464 c.210C>A c.(208-210)GGC>GGA p.G70G NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Silent_p.G70G NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 70 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGAAGCTGAGGCCGCGGAAGT 0.632 27 52 --- --- --- --- PASS ARHGEF11 9826 broad.mit.edu 37 1 156907135 156907135 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:156907135C>T uc001fqo.2 - 38 5266 c.4226G>A c.(4225-4227)CGC>CAC p.R1409H ARHGEF11_uc010phu.1_Missense_Mutation_p.R825H|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R1449H|MIR765_hsa-mir-765|MI0005116_5'Flank NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1409 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCGGCTGGGGCGTCTTGGATC 0.622 20 52 --- --- --- --- PASS ARHGEF11 9826 broad.mit.edu 37 1 156928544 156928544 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:156928544C>A uc001fqo.2 - 16 2412 c.1372G>T c.(1372-1374)GGA>TGA p.G458* ARHGEF11_uc001fqn.2_Nonsense_Mutation_p.G498*|ARHGEF11_uc001fqp.1_5'Flank NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 458 RGSL.|Potential. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AAAATATCTCCAAGGGCAGCC 0.542 24 39 --- --- --- --- PASS CD1C 911 broad.mit.edu 37 1 158262530 158262530 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:158262530G>T uc001fru.2 + 4 1047 c.755G>T c.(754-756)GGT>GTT p.G252V CD1C_uc001frv.2_Missense_Mutation_p.G55V NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 252 Extracellular (Potential).|Ig-like. antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding p.G252C(1) ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) ACTAAACATGGTGATATTCTT 0.532 43 99 --- --- --- --- PASS OR6K6 128371 broad.mit.edu 37 1 158725183 158725183 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:158725183C>G uc001fsw.1 + 1 578 c.578C>G c.(577-579)ACC>AGC p.T193S NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 193 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) TGGATTTCCACCTTGCCTTTC 0.478 30 78 --- --- --- --- PASS MNDA 4332 broad.mit.edu 37 1 158817656 158817656 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:158817656A>T uc001fsz.1 + 6 1326 c.1126A>T c.(1126-1128)ACA>TCA p.T376S NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 376 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) TCAACTGAGAACAGTTGACCG 0.433 59 114 --- --- --- --- PASS DARC 2532 broad.mit.edu 37 1 159176115 159176115 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:159176115C>A uc001fto.2 + 2 1126 c.886C>A c.(886-888)CAC>AAC p.H296N DARC_uc001ftp.3_Missense_Mutation_p.H298N NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 296 Helical; Name=7; (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) GGCAATTTTGCACTGTGTGGC 0.597 171 387 --- --- --- --- PASS CD84 8832 broad.mit.edu 37 1 160519720 160519720 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:160519720T>A uc001fwh.3 - 7 983 c.959A>T c.(958-960)CAG>CTG p.Q320L CD84_uc001fwf.3_Missense_Mutation_p.Q303L|CD84_uc001fwg.3_Missense_Mutation_p.Q314L|CD84_uc009wtn.2_Silent_p.A270A|CD84_uc001fwi.3_Missense_Mutation_p.Q189L NM_003874 NP_003865 Q9UIB8 SLAF5_HUMAN CD84 molecule 320 Cytoplasmic (Potential). blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATCAGCAAACTGCACTTCGGA 0.512 27 62 --- --- --- --- PASS USP21 27005 broad.mit.edu 37 1 161130856 161130856 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:161130856G>T uc010pke.1 + 3 803 c.426G>T c.(424-426)TTG>TTT p.L142F USP21_uc010pkc.1_Missense_Mutation_p.L142F|USP21_uc010pkd.1_Missense_Mutation_p.L142F|USP21_uc010pkf.1_Missense_Mutation_p.L142F NM_001014443 NP_001014443 Q9UK80 UBP21_HUMAN ubiquitin-specific protease 21 142 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1)|prostate(1)|breast(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TGAGCCGCTTGGCCCTCCGGC 0.642 51 64 --- --- --- --- PASS B4GALT3 8703 broad.mit.edu 37 1 161143466 161143466 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:161143466C>A uc001fyq.1 - 6 994 c.732G>T c.(730-732)CAG>CAT p.Q244H PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_Missense_Mutation_p.Q24H|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Missense_Mutation_p.Q244H|B4GALT3_uc001fys.1_Missense_Mutation_p.Q244H|B4GALT3_uc009wud.1_3'UTR NM_003779 NP_003770 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 244 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity 0 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) TCTTCAGGTACTGGTCAGGAG 0.552 57 150 --- --- --- --- PASS ADAMTS4 9507 broad.mit.edu 37 1 161161322 161161322 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:161161322G>A uc001fyt.3 - 9 2548 c.2120C>T c.(2119-2121)GCG>GTG p.A707V NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 707 Spacer. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GGTGGCCCCCGCGGGGATAGT 0.577 31 159 --- --- --- --- PASS FCGR2C 9103 broad.mit.edu 37 1 161561180 161561180 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:161561180C>T uc001gav.2 + 5 737 c.638C>T c.(637-639)ACT>ATT p.T213I FCGR2C_uc009wuj.2_RNA|FCGR2C_uc009wuk.2_RNA NM_201563 NP_963857 Fc fragment of IgG, low affinity IIc, receptor 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) GTGACCATCACTGTCCAAGGT 0.527 21 62 --- --- --- --- PASS FCGR2C 9103 broad.mit.edu 37 1 161561181 161561181 + Silent SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:161561181T>A uc001gav.2 + 5 738 c.639T>A c.(637-639)ACT>ACA p.T213T FCGR2C_uc009wuj.2_RNA|FCGR2C_uc009wuk.2_RNA NM_201563 NP_963857 Fc fragment of IgG, low affinity IIc, receptor 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) TGACCATCACTGTCCAAGGTA 0.532 21 62 --- --- --- --- PASS FCRLA 84824 broad.mit.edu 37 1 161680596 161680596 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:161680596G>T uc001gbe.2 + 3 437 c.195G>T c.(193-195)GAG>GAT p.E65D FCRLA_uc001gbd.2_Missense_Mutation_p.E59D|FCRLA_uc001gbf.2_Missense_Mutation_p.E59D|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Missense_Mutation_p.E59D|FCRLA_uc009wuq.2_Intron NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 42 cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) TCTGCACTGAGGAGAGCAGCT 0.537 25 67 --- --- --- --- PASS ADCY10 55811 broad.mit.edu 37 1 167793991 167793991 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:167793991G>T uc001ger.2 - 27 4151 c.3853C>A c.(3853-3855)CTC>ATC p.L1285I ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Missense_Mutation_p.L1193I|ADCY10_uc010plj.1_Missense_Mutation_p.L1132I NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 1285 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 TTCAGGGGGAGGTTGAAGATG 0.488 88 217 --- --- --- --- PASS DCAF6 55827 broad.mit.edu 37 1 168012380 168012380 + Splice_Site SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:168012380T>A uc001gew.2 + 12 1854 c.1612_splice c.e12+2 p.K538_splice DCAF6_uc001gev.2_Splice_Site_p.K558_splice|DCAF6_uc001gex.2_Splice_Site_p.K615_splice|DCAF6_uc010plk.1_Splice_Site_p.K584_splice|DCAF6_uc001gey.2_Splice_Site_p.K411_splice|DCAF6_uc001gez.2_Splice_Site NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GTGAAACAAGTAAGGTGTTAT 0.398 14 22 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169511512 169511512 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:169511512G>T uc001ggg.1 - 13 2961 c.2816C>A c.(2815-2817)TCA>TAA p.S939* NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 939 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) AATCTTAGATGAGTTACTTTG 0.448 74 154 --- --- --- --- PASS PRRX1 5396 broad.mit.edu 37 1 170695457 170695457 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:170695457G>T uc001ghf.2 + 3 561 c.514G>T c.(514-516)GTG>TTG p.V172L PRRX1_uc001ghe.2_Missense_Mutation_p.V172L NM_022716 NP_073207 P54821 PRRX1_HUMAN paired mesoderm homeobox 1 isoform pmx-1b 172 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTCAGGAGACGTGACTGCTGT 0.562 40 73 --- --- --- --- PASS FMO3 2328 broad.mit.edu 37 1 171086461 171086461 + Nonsense_Mutation SNP C A A rs61008738 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:171086461C>A uc001ghi.2 + 9 1589 c.1478C>A c.(1477-1479)TCG>TAG p.S493* FMO3_uc001ghh.2_Nonsense_Mutation_p.S493*|FMO3_uc010pmb.1_Nonsense_Mutation_p.S473*|FMO3_uc010pmc.1_Nonsense_Mutation_p.S430* NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 493 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) TGGGACCGGTCGTTGAAACCC 0.517 64 84 --- --- --- --- PASS DNM3 26052 broad.mit.edu 37 1 171810835 171810835 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:171810835G>T uc001gie.2 + 1 215 c.39G>T c.(37-39)GTG>GTT p.V13V DNM3_uc001gid.3_Silent_p.V13V|DNM3_uc009wwb.2_Silent_p.V13V|DNM3_uc001gif.2_Silent_p.V13V NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 13 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 TCCCGCTGGTGAACCGTCTGC 0.687 7 6 --- --- --- --- PASS SLC9A11 284525 broad.mit.edu 37 1 173545879 173545879 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:173545879C>A uc001giz.2 - 8 1246 c.823G>T c.(823-825)GGC>TGC p.G275C SLC9A11_uc009wwe.2_Translation_Start_Site|SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 275 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 GCAAGAGTGCCTGACATTCCT 0.353 17 56 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175355325 175355325 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:175355325C>A uc001gkp.1 - 6 1701 c.1620G>T c.(1618-1620)CTG>CTT p.L540L TNR_uc009wwu.1_Silent_p.L540L NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 540 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CCCCGCCCACCAGGCCATATT 0.597 32 52 --- --- --- --- PASS RASAL2 9462 broad.mit.edu 37 1 178414797 178414797 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:178414797G>T uc001glr.2 + 7 1308 c.1183G>T c.(1183-1185)GGG>TGG p.G395W RASAL2_uc001glq.2_Missense_Mutation_p.G543W NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 395 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 TGACGCACTGGGTATGAAAGA 0.373 43 84 --- --- --- --- PASS TDRD5 163589 broad.mit.edu 37 1 179599950 179599950 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:179599950G>C uc001gnf.1 + 7 1271 c.1021G>C c.(1021-1023)GTG>CTG p.V341L TDRD5_uc010pnp.1_Missense_Mutation_p.V341L|TDRD5_uc001gnh.1_5'UTR NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 341 Lotus/OST-HTH 3. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 CTTCTTAAATGTGACAGAACT 0.353 55 105 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 179983075 179983075 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:179983075G>T uc001gnt.2 + 10 1870 c.1487G>T c.(1486-1488)CGG>CTG p.R496L CEP350_uc009wxl.2_Missense_Mutation_p.R495L|CEP350_uc001gnu.2_Missense_Mutation_p.R330L NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 496 centrosome|nucleus|spindle ovary(4) 4 AGTAAATCTCGGTCTGAAAAT 0.373 61 86 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 180047715 180047715 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:180047715G>T uc001gnt.2 + 29 6268 c.5885G>T c.(5884-5886)GGA>GTA p.G1962V CEP350_uc009wxl.2_Missense_Mutation_p.G1961V|CEP350_uc001gnv.2_Missense_Mutation_p.G97V NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1962 centrosome|nucleus|spindle ovary(4) 4 GAGTCTATAGGACAGGAGCAG 0.428 9 30 --- --- --- --- PASS KIAA1614 57710 broad.mit.edu 37 1 180886163 180886163 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:180886163C>A uc001gok.2 + 2 991 c.924C>A c.(922-924)CTC>CTA p.L308L NM_020950 NP_066001 Q5VZ46 K1614_HUMAN hypothetical protein LOC57710 308 ovary(3)|skin(1) 4 AGGAGATGCTCAACGTTTCTG 0.622 35 65 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186157125 186157125 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:186157125C>A uc001grq.1 + 106 16754 c.16525C>A c.(16525-16527)CGG>AGG p.R5509R HMCN1_uc001grs.1_Silent_p.R961R NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5509 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CAACTACCAACGGGATCCTGT 0.483 37 122 --- --- --- --- PASS PRG4 10216 broad.mit.edu 37 1 186276374 186276374 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:186276374C>A uc001gru.3 + 7 1574 c.1523C>A c.(1522-1524)CCC>CAC p.P508H PRG4_uc001grt.3_Missense_Mutation_p.P467H|PRG4_uc009wyl.2_Missense_Mutation_p.P415H|PRG4_uc009wym.2_Missense_Mutation_p.P374H|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 508 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|21. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 GAGCCTGCACCCACCACCACC 0.647 51 110 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186312594 186312594 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:186312594C>T uc001grv.2 - 27 3911 c.3614G>A c.(3613-3615)CGA>CAA p.R1205Q NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 1205 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.R1205*(1) ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TTCTTTTTCTCGTCGTATAAA 0.338 T NTRK1 papillary thyroid 50 89 --- --- --- --- PASS PLA2G4A 5321 broad.mit.edu 37 1 186925314 186925314 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:186925314G>T uc001gsc.2 + 14 1622 c.1417G>T c.(1417-1419)GTG>TTG p.V473L PLA2G4A_uc010pos.1_Missense_Mutation_p.V413L NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 473 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) AATGGCCTTGGTGAGTGATTC 0.413 41 56 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190129813 190129813 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:190129813C>A uc001gse.1 - 7 1401 c.1169G>T c.(1168-1170)AGC>ATC p.S390I FAM5C_uc010pot.1_Missense_Mutation_p.S288I NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 390 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TCTTGGCAGGCTGATGAGGGG 0.378 58 112 --- --- --- --- PASS ZBTB41 360023 broad.mit.edu 37 1 197160934 197160934 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:197160934C>A uc001gtx.1 - 2 1285 c.1216G>T c.(1216-1218)GTT>TTT p.V406F ZBTB41_uc009wyz.1_RNA NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 406 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 TTTCTGTGAACAGTTAGGTTA 0.398 35 59 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197403947 197403947 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:197403947C>A uc001gtz.2 + 9 3089 c.2954C>A c.(2953-2955)GCA>GAA p.A985E CRB1_uc010poz.1_Missense_Mutation_p.A961E|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.A873E|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.A466E|CRB1_uc001gub.1_Missense_Mutation_p.A634E NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 985 Extracellular (Potential).|Laminin G-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 ACAAGGGATGCAAATGTAATA 0.338 55 130 --- --- --- --- PASS GPR25 2848 broad.mit.edu 37 1 200842988 200842988 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:200842988C>A uc001gvn.1 + 1 823 c.823C>A c.(823-825)CTG>ATG p.L275M NM_005298 NP_005289 O00155 GPR25_HUMAN G protein-coupled receptor 25 275 Extracellular (Potential). integral to plasma membrane ovary(1) 1 TCTGGGGGCGCTGCCGCTGCC 0.692 17 13 --- --- --- --- PASS KIF21B 23046 broad.mit.edu 37 1 200946404 200946404 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:200946404T>A uc001gvs.1 - 31 4578 c.4261A>T c.(4261-4263)AGC>TGC p.S1421C KIF21B_uc001gvr.1_Missense_Mutation_p.S1408C|KIF21B_uc009wzl.1_Missense_Mutation_p.S1421C|KIF21B_uc010ppn.1_Missense_Mutation_p.S1408C NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1421 WD 3. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 CCCGAAGGGCTGAGGGCGATC 0.647 74 144 --- --- --- --- PASS SYT2 127833 broad.mit.edu 37 1 202573743 202573743 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:202573743G>T uc001gye.2 - 3 378 c.185C>A c.(184-186)CCC>CAC p.P62H SYT2_uc010pqb.1_Missense_Mutation_p.P62H|SYT2_uc009xaf.2_Intron NM_001136504 NP_001129976 Q8N9I0 SYT2_HUMAN synaptotagmin II 62 Vesicular (Potential). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) CAGTGCCCAGGGTGGTACTGC 0.517 16 36 --- --- --- --- PASS PPFIA4 8497 broad.mit.edu 37 1 203037726 203037726 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:203037726G>T uc001gyz.2 + 14 2369 c.1776G>T c.(1774-1776)CTG>CTT p.L592L PPFIA4_uc009xaj.2_Silent_p.L1223L|PPFIA4_uc010pqf.1_Silent_p.L805L|PPFIA4_uc001gza.2_Silent_p.L583L|PPFIA4_uc001gzb.1_Silent_p.L278L|PPFIA4_uc001gzc.1_Silent_p.L134L NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 592 SAM 3. cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 CACTGGCCCTGATCCTCCAGA 0.552 10 11 --- --- --- --- PASS CHIT1 1118 broad.mit.edu 37 1 203186086 203186086 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:203186086C>G uc001gzn.2 - 11 1428 c.1332G>C c.(1330-1332)CGG>CGC p.R444R FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Silent_p.R206R|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Silent_p.R435R NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 444 Chitin-binding type-2. chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 GCTGGAACAGCCGCCCCGCTG 0.597 OREG0014113 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 148 --- --- --- --- PASS NFASC 23114 broad.mit.edu 37 1 204943341 204943341 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:204943341G>C uc001hbj.2 + 13 1642 c.1314G>C c.(1312-1314)CAG>CAC p.Q438H NFASC_uc001hbh.2_Missense_Mutation_p.Q438H|NFASC_uc010pqz.1_Missense_Mutation_p.Q432H|NFASC_uc010pra.1_Missense_Mutation_p.Q449H|NFASC_uc001hbi.2_Missense_Mutation_p.Q449H|NFASC_uc009xbg.1_Missense_Mutation_p.Q522H|NFASC_uc010prb.1_Missense_Mutation_p.Q449H|NFASC_uc010prc.1_5'UTR|NFASC_uc001hbk.1_Missense_Mutation_p.Q259H NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 438 Extracellular (Potential).|Ig-like C2-type 5. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCCGGAACCAGCTCATTCGAG 0.557 21 41 --- --- --- --- PASS CNTN2 6900 broad.mit.edu 37 1 205033820 205033820 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:205033820C>G uc001hbr.2 + 12 1730 c.1461C>G c.(1459-1461)ACC>ACG p.T487T CNTN2_uc001hbq.1_Silent_p.T378T|CNTN2_uc001hbs.2_Silent_p.T275T NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 487 Ig-like C2-type 5. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GCAAATACACCTGCTTTGCTG 0.542 33 195 --- --- --- --- PASS CR1 1378 broad.mit.edu 37 1 207753697 207753697 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:207753697A>T uc001hfy.2 + 22 3839 c.3699A>T c.(3697-3699)AGA>AGT p.R1233S CR1_uc009xcl.1_Missense_Mutation_p.R783S|CR1_uc001hfx.2_Missense_Mutation_p.R1683S NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1233 Extracellular (Potential).|Sushi 19. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 ATGACCTCAGAGGGGCTGCGT 0.562 91 172 --- --- --- --- PASS LAMB3 3914 broad.mit.edu 37 1 209799241 209799241 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:209799241C>A uc001hhg.2 - 13 2118 c.1728G>T c.(1726-1728)CCG>CCT p.P576P LAMB3_uc009xco.2_Silent_p.P576P|LAMB3_uc001hhh.2_Silent_p.P576P|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 576 Laminin EGF-like 6. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CCACGCACACCGGGTAGCGAT 0.677 16 19 --- --- --- --- PASS TRAF3IP3 80342 broad.mit.edu 37 1 209933636 209933636 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:209933636C>A uc001hho.2 + 3 542 c.252C>A c.(250-252)GCC>GCA p.A84A TRAF3IP3_uc001hhl.2_Silent_p.A84A|TRAF3IP3_uc001hhm.1_Silent_p.A84A|TRAF3IP3_uc001hhn.2_Silent_p.A84A|TRAF3IP3_uc009xcr.2_Silent_p.A84A NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 84 Cytoplasmic (Potential). integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) ATCCCCAGGCCAGGGAGCAAG 0.602 18 39 --- --- --- --- PASS IRF6 3664 broad.mit.edu 37 1 209965773 209965773 + Splice_Site SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:209965773C>A uc001hhq.1 - 6 772 c.509_splice c.e6-1 p.G170_splice IRF6_uc010psm.1_Splice_Site_p.G75_splice|IRF6_uc009xct.1_Splice_Site_p.G170_splice NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) ATGGGAGAACCTAAAACAAAA 0.537 HNSCC(57;0.16) 21 44 --- --- --- --- PASS SYT14 255928 broad.mit.edu 37 1 210334354 210334354 + Silent SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:210334354A>G uc009xcv.2 + 8 1707 c.1635A>G c.(1633-1635)CAA>CAG p.Q545Q SYT14_uc001hhs.3_Silent_p.Q609Q|SYT14_uc001hht.3_Silent_p.Q564Q|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Silent_p.Q590Q|SYT14_uc010pso.1_Silent_p.Q507Q|SYT14_uc010psp.1_Silent_p.Q83Q NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 545 Cytoplasmic (Potential). integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) AAGGACAGCAAGTATGTAGAT 0.388 51 111 --- --- --- --- PASS KCNH1 3756 broad.mit.edu 37 1 210948806 210948806 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:210948806A>T uc001hib.2 - 10 2166 c.1996T>A c.(1996-1998)TAC>AAC p.Y666N KCNH1_uc001hic.2_Missense_Mutation_p.Y639N NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 666 Cytoplasmic (Potential).|cNMP. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) AGATCACAGTAGGTCAAGGCC 0.517 50 94 --- --- --- --- PASS FAM71A 149647 broad.mit.edu 37 1 212799154 212799154 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:212799154T>C uc001hjk.2 + 1 1339 c.935T>C c.(934-936)ATA>ACA p.I312T uc010pth.1_RNA NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 312 Ala-rich. skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) AGCGCAGCCATAGCTGGGGCG 0.478 14 30 --- --- --- --- PASS PTPN14 5784 broad.mit.edu 37 1 214556843 214556843 + Silent SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:214556843T>A uc001hkk.1 - 13 2626 c.2355A>T c.(2353-2355)CCA>CCT p.P785P PTPN14_uc010pty.1_Silent_p.P686P NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 785 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TGGCCTTGGCTGGCCCATGCC 0.647 45 60 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215844504 215844504 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:215844504C>A uc001hku.1 - 64 14330 c.13943G>T c.(13942-13944)GGA>GTA p.G4648V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4648 Fibronectin type-III 32.|Extracellular (Potential). 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) TGGCTGGAATCCTCCTGGAGC 0.468 HNSCC(13;0.011) 78 173 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215844505 215844505 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:215844505C>G uc001hku.1 - 64 14329 c.13942G>C c.(13942-13944)GGA>CGA p.G4648R NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4648 Fibronectin type-III 32.|Extracellular (Potential). 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) GGCTGGAATCCTCCTGGAGCC 0.473 HNSCC(13;0.011) 80 172 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215847647 215847647 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:215847647C>T uc001hku.1 - 63 13993 c.13606G>A c.(13606-13608)GAA>AAA p.E4536K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4536 Fibronectin type-III 31.|Extracellular (Potential). 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) TTTGGAGGTTCCATCCCTGAG 0.493 HNSCC(13;0.011) 72 163 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215847895 215847895 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:215847895T>A uc001hku.1 - 63 13745 c.13358A>T c.(13357-13359)CAA>CTA p.Q4453L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4453 Fibronectin type-III 30.|Extracellular (Potential). 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) GCCTGTGACTTGCAATGTTGG 0.478 HNSCC(13;0.011) 41 116 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215848719 215848719 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:215848719A>T uc001hku.1 - 63 12921 c.12534T>A c.(12532-12534)CCT>CCA p.P4178P NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4178 Extracellular (Potential).|Fibronectin type-III 27. 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) TTGGGTTAACAGGCTCAGACC 0.502 HNSCC(13;0.011) 56 113 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215953204 215953204 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:215953204C>A uc001hku.1 - 55 11307 c.10920G>T c.(10918-10920)AGG>AGT p.R3640S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3640 Extracellular (Potential).|Fibronectin type-III 21. 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) TATGCTGTCTCCTGTCAGTGG 0.493 HNSCC(13;0.011) 51 92 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216144085 216144085 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:216144085C>G uc001hku.1 - 36 7226 c.6839G>C c.(6838-6840)GGT>GCT p.G2280A NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2280 Fibronectin type-III 9.|Extracellular (Potential). 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) GATTAATATACCATCTAGATA 0.398 HNSCC(13;0.011) 50 152 --- --- --- --- PASS ESRRG 2104 broad.mit.edu 37 1 216737693 216737693 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:216737693C>G uc001hkw.1 - 5 896 c.730G>C c.(730-732)GCT>CCT p.A244P ESRRG_uc001hky.1_Missense_Mutation_p.A221P|ESRRG_uc009xdp.1_Missense_Mutation_p.A221P|ESRRG_uc001hkz.1_Missense_Mutation_p.A182P|ESRRG_uc010puc.1_Missense_Mutation_p.A221P|ESRRG_uc001hla.1_Missense_Mutation_p.A221P|ESRRG_uc001hlb.1_Missense_Mutation_p.A221P|ESRRG_uc010pud.1_Missense_Mutation_p.A52P|ESRRG_uc001hlc.1_Missense_Mutation_p.A221P|ESRRG_uc001hld.1_Missense_Mutation_p.A221P|ESRRG_uc001hkx.1_Missense_Mutation_p.A256P|ESRRG_uc009xdo.1_Missense_Mutation_p.A221P|ESRRG_uc001hle.1_Missense_Mutation_p.A221P NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 244 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TCCGGTTCAGCCACCAACAAA 0.478 33 123 --- --- --- --- PASS HLX 3142 broad.mit.edu 37 1 221053252 221053252 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:221053252C>A uc001hmv.3 + 1 510 c.53C>A c.(52-54)TCG>TAG p.S18* NM_021958 NP_068777 Q14774 HLX_HUMAN H2.0-like homeobox 18 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S18S(1) ovary(2) 2 GBM - Glioblastoma multiforme(131;0.00914) AGCCTCTGGTCGGCCGCTTAC 0.687 6 11 --- --- --- --- PASS DISP1 84976 broad.mit.edu 37 1 223168310 223168310 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:223168310G>T uc001hnu.1 + 7 1120 c.973G>T c.(973-975)GTA>TTA p.V325L NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 325 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) AATGTGCAATGTAGATAATTC 0.353 84 194 --- --- --- --- PASS DISP1 84976 broad.mit.edu 37 1 223176710 223176710 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:223176710G>A uc001hnu.1 + 8 2118 c.1971G>A c.(1969-1971)GTG>GTA p.V657V NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 657 Helical; (Potential).|SSD. diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) CAGTTGTTGTGCTGCATGAGC 0.433 71 107 --- --- --- --- PASS TLR5 7100 broad.mit.edu 37 1 223285332 223285332 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:223285332G>A uc001hnv.1 - 4 1488 c.1042C>T c.(1042-1044)CTG>TTG p.L348L TLR5_uc001hnw.1_Silent_p.L348L NM_003268 NP_003259 O60602 TLR5_HUMAN toll-like receptor 5 precursor 348 Extracellular (Potential).|LRR 7. cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity ovary(2)|lung(1)|skin(1) 4 GBM - Glioblastoma multiforme(131;0.0851) AGTTCCCCCAGAAGGTTATAT 0.368 75 152 --- --- --- --- PASS LEFTY2 7044 broad.mit.edu 37 1 226125383 226125383 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:226125383C>A uc001hpt.1 - 4 939 c.859G>T c.(859-861)GGC>TGC p.G287C LEFTY2_uc010pvk.1_Missense_Mutation_p.G253C|LEFTY2_uc009xek.1_3'UTR NM_003240 NP_003231 O00292 LFTY2_HUMAN endometrial bleeding associated factor 287 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding 0 Breast(184;0.197) GCCAGGAAGCCCGGGGGCTCC 0.642 13 31 --- --- --- --- PASS C1orf55 163859 broad.mit.edu 37 1 226173192 226173192 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:226173192C>G uc001hpu.3 - 7 1220 c.1167G>C c.(1165-1167)GCG>GCC p.A389A C1orf55_uc001hpv.2_Intron NM_152608 NP_689821 Q6IQ49 CA055_HUMAN hypothetical protein LOC163859 389 lung(1) 1 Breast(184;0.197) CAGAGGTGAACGCCAATAAAT 0.428 47 109 --- --- --- --- PASS C1orf55 163859 broad.mit.edu 37 1 226175617 226175617 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:226175617C>A uc001hpu.3 - 6 1167 c.1114G>T c.(1114-1116)GAA>TAA p.E372* C1orf55_uc001hpv.2_Nonsense_Mutation_p.E372* NM_152608 NP_689821 Q6IQ49 CA055_HUMAN hypothetical protein LOC163859 372 lung(1) 1 Breast(184;0.197) GGCTGGCTTTCCTGCAGTTTG 0.418 59 115 --- --- --- --- PASS PARP1 142 broad.mit.edu 37 1 226555963 226555963 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:226555963G>A uc001hqd.3 - 16 2385 c.2214C>T c.(2212-2214)ACC>ACT p.T738T NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 738 PARP alpha-helical. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GGGGGATCAGGGTGTAAAAGC 0.567 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 59 93 --- --- --- --- PASS ACTA1 58 broad.mit.edu 37 1 229568343 229568343 + Silent SNP G A A rs121909526 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:229568343G>A uc001htm.2 - 3 519 c.414C>T c.(412-414)ATC>ATT p.I138I NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 138 I -> M (in NEM3; autosomal recessive). muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GCACGGCCTGGATGGCCACGT 0.498 33 50 --- --- --- --- PASS URB2 9816 broad.mit.edu 37 1 229770871 229770871 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:229770871G>T uc001hts.1 + 4 647 c.511G>T c.(511-513)GAG>TAG p.E171* URB2_uc009xfd.1_Nonsense_Mutation_p.E171* NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 171 nucleolus central_nervous_system(2)|ovary(1) 3 CCAGTTGTTTGAGGTCATTCA 0.587 42 68 --- --- --- --- PASS TTC13 79573 broad.mit.edu 37 1 231069608 231069608 + Splice_Site SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:231069608C>A uc001huf.3 - 9 932 c.901_splice c.e9-1 p.E301_splice TTC13_uc009xfi.2_Splice_Site_p.E248_splice|TTC13_uc009xfj.2_Splice_Site|TTC13_uc001hug.3_Splice_Site_p.E248_splice|TTC13_uc009xfk.1_Splice_Site_p.E191_splice NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CAATAGCTTCCTATAAAAAGT 0.284 19 108 --- --- --- --- PASS DISC1 27185 broad.mit.edu 37 1 231829612 231829612 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:231829612G>T uc001huz.2 + 2 161 c.108G>T c.(106-108)AGG>AGT p.R36S TSNAX-DISC1_uc010pwe.1_5'UTR|TSNAX-DISC1_uc010pwf.1_5'UTR|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.R25S|TSNAX-DISC1_uc010pwh.1_5'UTR|TSNAX-DISC1_uc010pwi.1_5'UTR|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.R25S|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.R25S|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.R36S|DISC1_uc010pwp.1_Missense_Mutation_p.R36S|DISC1_uc010pwq.1_Missense_Mutation_p.R36S|DISC1_uc010pwr.1_Missense_Mutation_p.R36S|DISC1_uc010pws.1_Missense_Mutation_p.R36S|DISC1_uc010pwt.1_Missense_Mutation_p.R36S|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.R36S|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.R36S|DISC1_uc010pxb.1_Missense_Mutation_p.R36S|DISC1_uc010pxc.1_Missense_Mutation_p.R36S|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.R36S|DISC1_uc009xfr.2_5'UTR|DISC1_uc010pxf.1_Missense_Mutation_p.R36S|DISC1_uc010pxg.1_Missense_Mutation_p.R36S|DISC1_uc010pxh.1_Missense_Mutation_p.R36S|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.R36S|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.R36S|DISC1_uc010pwm.1_Missense_Mutation_p.R36S|DISC1_uc001hux.1_Missense_Mutation_p.R36S|DISC1_uc001hvc.3_Missense_Mutation_p.R36S|DISC1_uc010pwn.1_Missense_Mutation_p.R36S NM_018662 NP_061132 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 isoform L 36 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding skin(1) 1 all_cancers(173;0.0208)|Prostate(94;0.0975) GCTTTCGGAGGCGGCGGCTGG 0.597 33 64 --- --- --- --- PASS EDARADD 128178 broad.mit.edu 37 1 236590723 236590723 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:236590723C>A uc001hxu.1 + 4 257 c.192C>A c.(190-192)TGC>TGA p.C64* EDARADD_uc001hxv.1_Nonsense_Mutation_p.C54* NM_145861 NP_665860 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain isoform A 64 cell differentiation|signal transduction cytoplasm 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CTTTGAACTGCCCACGAAATT 0.244 20 80 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237580371 237580371 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:237580371G>T uc001hyl.1 + 11 916 c.796G>T c.(796-798)GCT>TCT p.A266S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 266 Cytoplasmic (By similarity).|MIR 3. 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 p.A264T(1) 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) TGAAGGTGGCGCTGTGTCTGT 0.388 15 46 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237729917 237729917 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:237729917C>A uc001hyl.1 + 28 3385 c.3265C>A c.(3265-3267)CGT>AGT p.R1089S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1089 Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCGAATCTTCCGTGCCGAGAA 0.552 40 72 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237758948 237758948 + Silent SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:237758948A>G uc001hyl.1 + 34 4707 c.4587A>G c.(4585-4587)ACA>ACG p.T1529T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1529 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) AACTGAGCACATACTATCAGG 0.473 19 38 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237813349 237813349 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:237813349C>A uc001hyl.1 + 50 7805 c.7685C>A c.(7684-7686)ACC>AAC p.T2562N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2562 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) TGTTCACTTACCAAAGCTCAG 0.403 84 171 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237837496 237837496 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:237837496G>C uc001hyl.1 + 59 8811 c.8691G>C c.(8689-8691)CAG>CAC p.Q2897H RYR2_uc010pxz.1_5'Flank NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2897 Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|Calmodulin-binding (Potential).|4. 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) AGTTCTTGCAGATCAATGGAT 0.403 25 39 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237947642 237947642 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:237947642C>A uc001hyl.1 + 90 12750 c.12630C>A c.(12628-12630)GAC>GAA p.D4210E RYR2_uc010pya.1_Missense_Mutation_p.D625E NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4210 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) CGGAGTCGGACTTGAACGAGA 0.537 34 73 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237972324 237972324 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:237972324G>T uc001hyl.1 + 100 14542 c.14422G>T c.(14422-14424)GAT>TAT p.D4808Y RYR2_uc010pyb.1_Missense_Mutation_p.D241Y NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4808 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) GAAATGTGACGATATGCTAAC 0.338 114 215 --- --- --- --- PASS ZP4 57829 broad.mit.edu 37 1 238053840 238053840 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:238053840G>T uc001hym.2 - 1 96 c.96C>A c.(94-96)CTC>CTA p.L32L LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 32 Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GCCCACAGTGGAGCACACTGG 0.507 27 67 --- --- --- --- PASS ZP4 57829 broad.mit.edu 37 1 238053887 238053887 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:238053887C>A uc001hym.2 - 1 49 c.49G>T c.(49-51)GTG>TTG p.V17L LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 17 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TGGCCACTCACAGCAAGAGAT 0.552 18 59 --- --- --- --- PASS CHRM3 1131 broad.mit.edu 37 1 240070879 240070879 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:240070879C>A uc001hyp.2 + 5 907 c.128C>A c.(127-129)TCT>TAT p.S43Y NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 43 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) TACAATGTTTCTCGAGCAGCT 0.562 44 114 --- --- --- --- PASS EXO1 9156 broad.mit.edu 37 1 242052766 242052766 + Splice_Site SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:242052766G>T uc001hzh.2 + 16 2946 c.2406_splice c.e16-1 p.K802_splice EXO1_uc001hzi.2_Intron|EXO1_uc001hzj.2_Splice_Site_p.K802_splice|EXO1_uc009xgq.2_Splice_Site_p.K801_splice NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) GTATTTTGCAGAGATTCTGAA 0.358 Direct_reversal_of_damage|Editing_and_processing_nucleases 13 106 --- --- --- --- PASS EXO1 9156 broad.mit.edu 37 1 242052767 242052767 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:242052767A>T uc001hzh.2 + 16 2946 c.2406A>T c.(2404-2406)AAA>AAT p.K802N EXO1_uc001hzi.2_Splice_Site_p.K802_splice|EXO1_uc001hzj.2_Missense_Mutation_p.K802N|EXO1_uc009xgq.2_Missense_Mutation_p.K801N NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 802 Interaction with MLH1.|Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) TATTTTGCAGAGATTCTGAAA 0.363 Direct_reversal_of_damage|Editing_and_processing_nucleases 14 107 --- --- --- --- PASS EXO1 9156 broad.mit.edu 37 1 242052787 242052787 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:242052787C>T uc001hzh.2 + 16 2966 c.2426C>T c.(2425-2427)CCT>CTT p.P809L EXO1_uc001hzi.2_3'UTR|EXO1_uc001hzj.2_Missense_Mutation_p.P809L|EXO1_uc009xgq.2_Missense_Mutation_p.P808L NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 809 Interaction with MLH1.|Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) AAGCTTCCTCCTTGTAAGAAA 0.363 Direct_reversal_of_damage|Editing_and_processing_nucleases 21 122 --- --- --- --- PASS ADSS 159 broad.mit.edu 37 1 244579333 244579333 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:244579333T>A uc001iaj.2 - 11 1412 c.1118A>T c.(1117-1119)AAA>ATA p.K373I NM_001126 NP_001117 P30520 PURA2_HUMAN adenylosuccinate synthase 373 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) AACTCCAACTTTGATTTCCGT 0.338 37 87 --- --- --- --- PASS KIF26B 55083 broad.mit.edu 37 1 245849969 245849969 + Silent SNP C A A rs116468848 by1000genomes TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:245849969C>A uc001ibf.1 + 12 4124 c.3684C>A c.(3682-3684)CCC>CCA p.P1228P KIF26B_uc001ibg.1_Silent_p.P846P|KIF26B_uc001ibh.1_Silent_p.P470P NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 1228 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GCTCGCGGCCCGTCAGCATCA 0.657 7 12 --- --- --- --- PASS CNST 163882 broad.mit.edu 37 1 246810488 246810488 + Missense_Mutation SNP A G G rs144281475 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:246810488A>G uc001ibp.2 + 9 1363 c.985A>G c.(985-987)ACA>GCA p.T329A CNST_uc001ibo.3_Missense_Mutation_p.T329A NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 329 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 AAGCCAACATACAGTGGAGCC 0.433 OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 65 170 --- --- --- --- PASS SCCPDH 51097 broad.mit.edu 37 1 246929399 246929399 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:246929399C>A uc001ibr.2 + 11 1489 c.1142C>A c.(1141-1143)GCA>GAA p.A381E NM_016002 NP_057086 Q8NBX0 SCPDH_HUMAN saccharopine dehydrogenase (putative) 381 midbody binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity ovary(1) 1 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) ATGGTTCAGGCAGCCATGACT 0.398 68 165 --- --- --- --- PASS OR2B11 127623 broad.mit.edu 37 1 247615153 247615153 + Missense_Mutation SNP C A A rs35822304 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:247615153C>A uc010pyx.1 - 1 132 c.132G>T c.(130-132)TTG>TTT p.L44F NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 44 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CGACGTTCCCCAACATGGCCA 0.572 71 129 --- --- --- --- PASS OR2C3 81472 broad.mit.edu 37 1 247694937 247694937 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:247694937G>A uc009xgy.2 - 2 1239 c.877C>T c.(877-879)CTG>TTG p.L293L C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 293 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) GTGTTCCTCAGGGTGTAAATA 0.547 30 73 --- --- --- --- PASS OR14A16 284532 broad.mit.edu 37 1 247978123 247978123 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:247978123C>A uc001idm.1 - 1 909 c.909G>T c.(907-909)AAG>AAT p.K303N NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 303 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGAGCTTTCCCTTTATCAACA 0.338 28 70 --- --- --- --- PASS OR11L1 391189 broad.mit.edu 37 1 248004856 248004856 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:248004856G>T uc001idn.1 - 1 343 c.343C>A c.(343-345)CTG>ATG p.L115M NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 115 Helical; Name=3; (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) ATGAAGGCCAGGAGAAAGCAC 0.602 8 23 --- --- --- --- PASS TRIM58 25893 broad.mit.edu 37 1 248028214 248028214 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:248028214C>G uc001ido.2 + 3 772 c.724C>G c.(724-726)CGC>GGC p.R242G NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 242 Potential. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GAGGTGCCAGCGCCCGGCCCT 0.627 4 12 --- --- --- --- PASS OR2W3 343171 broad.mit.edu 37 1 248039289 248039289 + Translation_Start_Site SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:248039289G>T uc001idp.1 + 2 189 c.-80G>T c.(-82--78)GAGGG>GATGG TRIM58_uc001ido.2_Missense_Mutation_p.R320M NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GAACCATGGAGGGATGTCCCC 0.582 28 79 --- --- --- --- PASS OR2AK2 391191 broad.mit.edu 37 1 248129078 248129078 + Missense_Mutation SNP A T T rs140557072 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:248129078A>T uc010pzd.1 + 1 445 c.445A>T c.(445-447)ATG>TTG p.M149L OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 149 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ACATTATCCTATGCTTATGAG 0.433 141 275 --- --- --- --- PASS OR2T33 391195 broad.mit.edu 37 1 248436847 248436847 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:248436847G>T uc010pzi.1 - 1 270 c.270C>A c.(268-270)ATC>ATA p.I90I NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 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) CAGCGCGGGAGATGGCCTTAC 0.567 50 165 --- --- --- --- PASS OR2T2 401992 broad.mit.edu 37 1 248616772 248616772 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:248616772C>G uc001iek.1 + 1 674 c.674C>G c.(673-675)ACT>AGT p.T225S NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATCCTCCTGACTGTCCACAGG 0.542 39 20 --- --- --- --- PASS OR2T3 343173 broad.mit.edu 37 1 248637345 248637345 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:248637345A>T uc001iel.1 + 1 694 c.694A>T c.(694-696)AGG>TGG p.R232W NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTCATCCACAGGATGAATTC 0.547 47 164 --- --- --- --- PASS OR2T34 127068 broad.mit.edu 37 1 248737365 248737365 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:248737365T>A uc001iep.1 - 1 694 c.694A>T c.(694-696)AGG>TGG p.R232W NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAATTCATCCTGTGGATGAGA 0.547 36 241 --- --- --- --- PASS OR2T34 127068 broad.mit.edu 37 1 248738021 248738021 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:248738021G>T uc001iep.1 - 1 38 c.38C>A c.(37-39)GCA>GAA p.A13E NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 13 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATCAGTGCTTGCTGTTTGATT 0.468 32 124 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1893231 1893231 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:1893231C>A uc002qxe.2 - 16 3129 c.2302G>T c.(2302-2304)GAT>TAT p.D768Y MYT1L_uc002qxd.2_Missense_Mutation_p.D766Y|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 768 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CCGTTCTCATCCACCTCCATG 0.597 13 68 --- --- --- --- PASS GREB1 9687 broad.mit.edu 37 2 11735431 11735431 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:11735431A>G uc002rbk.1 + 12 2051 c.1751A>G c.(1750-1752)CAG>CGG p.Q584R GREB1_uc002rbo.1_Missense_Mutation_p.Q218R NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 584 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GCGGAGTACCAGAAGGAAGTC 0.363 31 45 --- --- --- --- PASS DDX1 1653 broad.mit.edu 37 2 15757435 15757435 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:15757435C>G uc002rce.2 + 15 1373 c.1085C>G c.(1084-1086)TCT>TGT p.S362C DDX1_uc010yjq.1_Missense_Mutation_p.S270C NM_004939 NP_004930 Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 362 Necessary for interaction with RELA.|Helicase ATP-binding. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) CTGAACTTATCTCAAGTTAGA 0.313 82 121 --- --- --- --- PASS RAD51AP2 729475 broad.mit.edu 37 2 17698070 17698070 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:17698070C>A uc002rcl.1 - 1 1637 c.1613G>T c.(1612-1614)TGT>TTT p.C538F RAD51AP2_uc010exn.1_Missense_Mutation_p.C529F NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 538 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTGCTTTTTACACTTCAAAAT 0.224 3 39 --- --- --- --- PASS RAD51AP2 729475 broad.mit.edu 37 2 17699345 17699345 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:17699345C>A uc002rcl.1 - 1 362 c.338G>T c.(337-339)AGC>ATC p.S113I RAD51AP2_uc010exn.1_Missense_Mutation_p.S104I NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 113 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTGCAAACAGCTACTCATTTG 0.468 43 81 --- --- --- --- PASS GEN1 348654 broad.mit.edu 37 2 17954485 17954485 + Splice_Site SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:17954485G>T uc002rct.2 + 10 1064 c.991_splice c.e10-1 p.V331_splice SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Splice_Site_p.V331_splice|GEN1_uc002rcu.2_Splice_Site_p.V331_splice NM_182625 NP_872431 Q17RS7 GEN_HUMAN Gen homolog 1, endonuclease DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(5)|kidney(1)|central_nervous_system(1)|skin(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTTCTTGCTAGGTTATTCAAG 0.284 Homologous_recombination 32 36 --- --- --- --- PASS NT5C1B 93034 broad.mit.edu 37 2 18745242 18745242 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:18745242G>T uc002rcz.2 - 10 1757 c.1653C>A c.(1651-1653)ACC>ACA p.T551T NT5C1B_uc002rcy.2_Silent_p.T551T|NT5C1B_uc010exr.2_Intron|NT5C1B_uc010yju.1_Silent_p.T491T|NT5C1B_uc002rda.2_Silent_p.T491T|NT5C1B_uc010yjv.1_Silent_p.T568T|NT5C1B_uc010yjw.1_Silent_p.T534T|NT5C1B_uc010exs.2_Silent_p.T553T NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 551 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) AGCGTCGAAGGGTCTTCAGCA 0.517 62 114 --- --- --- --- PASS PUM2 23369 broad.mit.edu 37 2 20508288 20508288 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:20508288G>A uc002rds.1 - 5 599 c.576C>T c.(574-576)CCC>CCT p.P192P PUM2_uc002rdt.1_Silent_p.P192P|PUM2_uc002rdr.2_Silent_p.P131P|PUM2_uc010yjy.1_Silent_p.P192P|PUM2_uc002rdu.1_Silent_p.P192P|PUM2_uc010yjz.1_Silent_p.P131P NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 192 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) GATTAGTATTGGGGCCCAAGC 0.408 47 130 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21229324 21229324 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:21229324G>T uc002red.2 - 26 10544 c.10416C>A c.(10414-10416)ACC>ACA p.T3472T NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3472 Heparin-binding. 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) CTCCTTTAGCGGTAGAGTACA 0.398 54 136 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21233860 21233860 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:21233860G>T uc002red.2 - 26 6008 c.5880C>A c.(5878-5880)ATC>ATA p.I1960I NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1960 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) GAGCTGCACTGATGCTTTTCC 0.443 81 105 --- --- --- --- PASS OTOF 9381 broad.mit.edu 37 2 26699040 26699040 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:26699040C>A uc002rhk.2 - 23 2949 c.2822G>T c.(2821-2823)GGC>GTC p.G941V OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.G194V|OTOF_uc002rhi.2_Missense_Mutation_p.G251V|OTOF_uc002rhj.2_Missense_Mutation_p.G194V NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 941 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) CAGGCCCAGGCCCTGGGCTGC 0.672 10 36 --- --- --- --- PASS OTOF 9381 broad.mit.edu 37 2 26712555 26712555 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:26712555G>C uc002rhk.2 - 10 1078 c.951C>G c.(949-951)ATC>ATG p.I317M NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 317 Cytoplasmic (Potential).|C2 1. 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) CCGAAATCTTGATGATCTTGT 0.383 30 31 --- --- --- --- PASS SLC5A6 8884 broad.mit.edu 37 2 27424659 27424659 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:27424659C>A uc002rjd.2 - 14 1810 c.1419G>T c.(1417-1419)GGG>GGT p.G473G SLC5A6_uc010eyv.1_Silent_p.G473G NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium-dependent 473 Helical; (Potential). biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) TCACGATGCTCCCGATGCCAA 0.612 32 36 --- --- --- --- PASS IFT172 26160 broad.mit.edu 37 2 27700124 27700124 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:27700124C>A uc002rku.2 - 13 1336 c.1285G>T c.(1285-1287)GGT>TGT p.G429C IFT172_uc002rkw.2_Missense_Mutation_p.G429C|IFT172_uc010yls.1_Missense_Mutation_p.G408C|IFT172_uc010ezc.2_Missense_Mutation_p.G429C|IFT172_uc002rkv.2_Missense_Mutation_p.G403C NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 429 cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) CGTACAGAACCCAGGGTGTCA 0.453 62 258 --- --- --- --- PASS C2orf16 84226 broad.mit.edu 37 2 27800909 27800909 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:27800909G>C uc002rkz.3 + 1 1521 c.1470G>C c.(1468-1470)AGG>AGC p.R490S NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 490 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) AATCTGCAAGGACACAGCTTC 0.443 36 73 --- --- --- --- PASS EHD3 30845 broad.mit.edu 37 2 31483649 31483649 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:31483649C>A uc002rnu.2 + 4 1384 c.776C>A c.(775-777)TCC>TAC p.S259Y EHD3_uc010ymt.1_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN EH-domain containing 3 259 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) TCCTTCTGGTCCCACCCCCTC 0.607 28 97 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33498804 33498804 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:33498804G>T uc002ros.2 + 16 2702 c.2702G>T c.(2701-2703)TGC>TTC p.C901F LTBP1_uc002rot.2_Missense_Mutation_p.C575F|LTBP1_uc002rou.2_Missense_Mutation_p.C574F|LTBP1_uc002rov.2_Missense_Mutation_p.C521F|LTBP1_uc010ymz.1_Missense_Mutation_p.C574F|LTBP1_uc010yna.1_Missense_Mutation_p.C521F NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 900 EGF-like 4; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ACCTGTATATGCTACGAGGGC 0.343 8 72 --- --- --- --- PASS HEATR5B 54497 broad.mit.edu 37 2 37215788 37215788 + Splice_Site SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:37215788C>A uc002rpp.1 - 35 6007 c.5911_splice c.e35+1 p.R1971_splice HEATR5B_uc002rpo.1_Splice_Site_p.R283_splice|HEATR5B_uc010ezy.1_Splice_Site_p.R466_splice NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) AATATACTTACTGTTTTGTTC 0.303 43 46 --- --- --- --- PASS SOS1 6654 broad.mit.edu 37 2 39251238 39251238 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:39251238C>A uc002rrk.3 - 9 1156 c.1115G>T c.(1114-1116)TGT>TTT p.C372F SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_5'UTR|SOS1_uc002rrl.2_Missense_Mutation_p.C104F NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 372 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) TTGTTTTAAACATTCCTTGTC 0.299 Noonan_syndrome 16 84 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40401970 40401970 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:40401970A>G uc002rrx.2 - 4 1973 c.1949T>C c.(1948-1950)ATA>ACA p.I650T uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.I650T|SLC8A1_uc002rrz.2_Missense_Mutation_p.I642T|SLC8A1_uc002rsa.2_Missense_Mutation_p.I642T|SLC8A1_uc002rsd.3_Missense_Mutation_p.I642T|SLC8A1_uc002rsb.1_Missense_Mutation_p.I642T NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 650 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CATACCTGTTATTGTGAAGCC 0.308 27 129 --- --- --- --- PASS THADA 63892 broad.mit.edu 37 2 43804212 43804212 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:43804212C>A uc002rsw.3 - 10 1338 c.986G>T c.(985-987)GGG>GTG p.G329V THADA_uc002rsx.3_Missense_Mutation_p.G329V|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.2_Missense_Mutation_p.G39V|THADA_uc002rta.2_Missense_Mutation_p.G39V|THADA_uc002rtb.1_Missense_Mutation_p.G329V|THADA_uc002rtc.3_Missense_Mutation_p.G329V|THADA_uc002rtd.2_Missense_Mutation_p.G329V NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 329 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CAGGGCCTCCCCACTCCGACC 0.478 OREG0014580 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 22 --- --- --- --- PASS PLEKHH2 130271 broad.mit.edu 37 2 43937155 43937155 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:43937155G>A uc010yny.1 + 12 2076 c.1993G>A c.(1993-1995)GAA>AAA p.E665K PLEKHH2_uc002rte.3_Missense_Mutation_p.E665K|PLEKHH2_uc002rtf.3_Missense_Mutation_p.E664K NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 665 Ser-rich. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGTGGCTTCTGAAAGTGATTA 0.458 42 234 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50724472 50724472 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:50724472C>G uc010fbq.2 - 14 4475 c.2998G>C c.(2998-3000)GGG>CGG p.G1000R NRXN1_uc002rxb.3_Missense_Mutation_p.G632R|NRXN1_uc002rxe.3_Missense_Mutation_p.G960R|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor 150 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGTACTCACCCTTTAACTAAT 0.328 38 59 --- --- --- --- PASS UGP2 7360 broad.mit.edu 37 2 64083466 64083466 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:64083466G>T uc002scm.2 + 2 352 c.46G>T c.(46-48)GGT>TGT p.G16C UGP2_uc002scl.2_Missense_Mutation_p.G5C|UGP2_uc010ypx.1_Missense_Mutation_p.G25C NM_006759 NP_006750 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 isoform a 16 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity 0 GTCTCAAGATGGTGCTTCTCA 0.378 67 189 --- --- --- --- PASS AAK1 22848 broad.mit.edu 37 2 69771660 69771660 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:69771660T>A uc002sfp.2 - 4 804 c.299A>T c.(298-300)CAC>CTC p.H100L AAK1_uc010fdk.2_Missense_Mutation_p.H100L|AAK1_uc010yqm.1_Missense_Mutation_p.H100L|AAK1_uc010fdm.1_Missense_Mutation_p.H100L NM_014911 NP_055726 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 100 Protein kinase. coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity 0 AATATTCTTGTGCCCTGAAAG 0.398 24 47 --- --- --- --- PASS ASPRV1 151516 broad.mit.edu 37 2 70187792 70187792 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:70187792G>T uc002sfz.3 - 1 1606 c.1029C>A c.(1027-1029)CAC>CAA p.H343Q NM_152792 NP_690005 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 precursor 343 Extracellular (Potential). protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity ovary(1) 1 TGGCTTCTCAGTGGGATAGCT 0.572 33 91 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 79878772 79878772 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:79878772A>T uc010ysh.1 + 1 95 c.90A>T c.(88-90)CCA>CCT p.P30P CTNNA2_uc010yse.1_Silent_p.P30P|CTNNA2_uc010ysf.1_Silent_p.P30P|CTNNA2_uc010ysg.1_Silent_p.P30P|hsa-mir-4264|MI0015877_5'Flank NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 30 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TGTTGGAGCCACTTGTTACAC 0.413 25 38 --- --- --- --- PASS POLR1A 25885 broad.mit.edu 37 2 86297336 86297336 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:86297336G>A uc002sqs.2 - 13 2050 c.1671C>T c.(1669-1671)CAC>CAT p.H557H NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 557 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 TGGAGGGTCTGTGCAGTGTGG 0.572 31 34 --- --- --- --- PASS EIF2AK3 9451 broad.mit.edu 37 2 88879056 88879056 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:88879056C>A uc002stc.3 - 11 2068 c.1866G>T c.(1864-1866)AAG>AAT p.K622N NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 622 Cytoplasmic (Potential).|Protein kinase. ATP (By similarity). activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 GACGGATCCTCTTGATAGCAT 0.398 34 165 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90198920 90198920 + RNA SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:90198920C>A uc010fhm.2 + 24 c.3051C>A Parts of antibodies, mostly variable regions. TCCAGATGACCCAGTCTCCAT 0.458 95 128 --- --- --- --- PASS ADRA2B 151 broad.mit.edu 37 2 96781401 96781401 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:96781401T>A uc002svi.2 - 1 488 c.488A>T c.(487-489)CAG>CTG p.Q163L NM_000682 NP_000673 P18089 ADA2B_HUMAN alpha-2B-adrenergic receptor 163 Extracellular (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding ovary(2)|lung(1) 3 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GAGCTTGCACTGGGGGCGCCC 0.617 13 43 --- --- --- --- PASS DUSP2 1844 broad.mit.edu 37 2 96810554 96810554 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:96810554C>A uc002svk.3 - 2 542 c.456G>T c.(454-456)CCG>CCT p.P152P NM_004418 NP_004409 Q05923 DUS2_HUMAN dual specificity phosphatase 2 152 endoderm formation|inactivation of MAPK activity|regulation of apoptosis nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity breast(1) 1 Ovarian(717;0.0228) CCCCTGTTGGCGGCAGCGCAG 0.672 2 1 --- --- --- --- PASS TMEM131 23505 broad.mit.edu 37 2 98377352 98377352 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:98377352C>A uc002syh.3 - 37 5144 c.4915G>T c.(4915-4917)GGA>TGA p.G1639* TMEM131_uc002syg.2_Nonsense_Mutation_p.G19* NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1639 integral to membrane ovary(4)|central_nervous_system(2) 6 TGTTTGCTTCCATTTGGCTGT 0.537 21 97 --- --- --- --- PASS TMEM131 23505 broad.mit.edu 37 2 98409345 98409345 + Silent SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:98409345T>A uc002syh.3 - 31 3877 c.3648A>T c.(3646-3648)CCA>CCT p.P1216P NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1216 integral to membrane ovary(4)|central_nervous_system(2) 6 GGTGGACCGATGGGCCACACT 0.547 15 31 --- --- --- --- PASS AFF3 3899 broad.mit.edu 37 2 100343538 100343538 + Splice_Site SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:100343538C>T uc002tag.2 - 10 1327 c.1091_splice c.e10+1 p.S364_splice AFF3_uc002taf.2_Splice_Site_p.S389_splice|AFF3_uc010fiq.1_Splice_Site_p.S364_splice|AFF3_uc010yvr.1_Splice_Site_p.S518_splice|AFF3_uc002tah.1_Splice_Site_p.S389_splice|AFF3_uc010fir.1_Silent_p.S441S NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 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 AAGAAACTTACGATGTATTCG 0.363 19 66 --- --- --- --- PASS LONRF2 164832 broad.mit.edu 37 2 100910719 100910719 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:100910719C>A uc002tal.3 - 9 2369 c.1729G>T c.(1729-1731)GGC>TGC p.G577C LONRF2_uc010yvs.1_RNA NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 577 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 AAACACATGCCAAACCGCTTG 0.493 35 51 --- --- --- --- PASS NPAS2 4862 broad.mit.edu 37 2 101604630 101604630 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:101604630A>T uc002tap.1 + 17 2005 c.1719A>T c.(1717-1719)GCA>GCT p.A573A NPAS2_uc010yvt.1_Silent_p.A638A|NPAS2_uc010fit.1_Intron NM_002518 NP_002509 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 573 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(3)|upper_aerodigestive_tract(1) 4 GGTCAGCTGCAGTGACTCAGC 0.602 36 143 --- --- --- --- PASS IL18RAP 8807 broad.mit.edu 37 2 103040825 103040825 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:103040825G>A uc002tbx.2 + 5 1014 c.530G>A c.(529-531)AGT>AAT p.S177N IL18RAP_uc010fiz.2_Missense_Mutation_p.S35N NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 177 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 tctTGCCCCAGTCTCAGCTGC 0.294 28 110 --- --- --- --- PASS SLC5A7 60482 broad.mit.edu 37 2 108608580 108608580 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:108608580G>T uc002tdv.2 + 3 473 c.197G>T c.(196-198)GGG>GTG p.G66V SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.G66V|SLC5A7_uc010ywn.1_5'UTR NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 66 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) GTCGGAGGAGGGTATATCAAT 0.383 26 104 --- --- --- --- PASS SH3RF3 344558 broad.mit.edu 37 2 110015230 110015230 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:110015230A>T uc010ywt.1 + 4 1130 c.1130A>T c.(1129-1131)AAG>ATG p.K377M NM_001099289 NP_001092759 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 377 zinc ion binding ovary(1) 1 AAGAACACCAAGAAACGCCAC 0.597 10 23 --- --- --- --- PASS FOXD4L1 200350 broad.mit.edu 37 2 114257000 114257000 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:114257000A>T uc002tjw.3 + 1 340 c.167A>T c.(166-168)CAG>CTG p.Q56L NM_012184 NP_036316 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 56 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 CAGTCGCTCCAGCCGGGGCTG 0.522 19 57 --- --- --- --- PASS SLC35F5 80255 broad.mit.edu 37 2 114512771 114512771 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:114512771T>C uc002tku.1 - 3 668 c.244A>G c.(244-246)ATA>GTA p.I82V SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Missense_Mutation_p.I76V|SLC35F5_uc002tkw.2_Missense_Mutation_p.I82V NM_025181 NP_079457 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 82 Helical; (Potential). transport integral to membrane 0 GCAACCCATATCACATCAACA 0.423 11 63 --- --- --- --- PASS PCDP1 200373 broad.mit.edu 37 2 120369312 120369312 + Silent SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:120369312A>G uc002tmb.2 + 14 1539 c.447A>G c.(445-447)CAA>CAG p.Q149Q PCDP1_uc010yyq.1_Silent_p.Q279Q NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN primary ciliary dyskinesia protein 1 435 cilium calmodulin binding 0 Colorectal(110;0.196) TTCGCAATCAAGAAGAGGTGG 0.343 25 47 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125261959 125261959 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:125261959C>A uc002tno.2 + 8 1514 c.1150C>A c.(1150-1152)CCC>ACC p.P384T CNTNAP5_uc010flu.2_Missense_Mutation_p.P385T NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 384 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GCCCGGCACCCCCCAAATTGA 0.532 20 42 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125504814 125504814 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:125504814C>A uc002tno.2 + 14 2447 c.2083C>A c.(2083-2085)CCA>ACA p.P695T CNTNAP5_uc010flu.2_Missense_Mutation_p.P696T NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 695 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AGATGGAACACCATTTACCTG 0.532 20 22 --- --- --- --- PASS MYO7B 4648 broad.mit.edu 37 2 128389280 128389280 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:128389280A>T uc002top.2 + 37 5176 c.5123A>T c.(5122-5124)GAC>GTC p.D1708V MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1708 MyTH4 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GCCCTCCAGGACGAGGTCTAC 0.672 5 25 --- --- --- --- PASS WDR33 55339 broad.mit.edu 37 2 128477377 128477377 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:128477377T>A uc002tpg.1 - 16 2405 c.2222A>T c.(2221-2223)CAG>CTG p.Q741L NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 741 Collagen-like. postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) AGGTGGTCCCTGCATACCTTG 0.647 30 103 --- --- --- --- PASS CCDC74B 91409 broad.mit.edu 37 2 130897166 130897166 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:130897166C>G uc002tqm.1 - 8 1167 c.1105G>C c.(1105-1107)GCA>CCA p.A369P CCDC74B_uc010yzw.1_Missense_Mutation_p.A471P|CCDC74B_uc002tqn.1_Missense_Mutation_p.A303P NM_207310 NP_997193 Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 369 0 Colorectal(110;0.1) TTCTGCATTGCCTGCAGCCTC 0.612 14 21 --- --- --- --- PASS FAM123C 205147 broad.mit.edu 37 2 131520578 131520578 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:131520578C>A uc002trw.2 + 2 1123 c.933C>A c.(931-933)GAC>GAA p.D311E FAM123C_uc010fmv.2_Missense_Mutation_p.D311E|FAM123C_uc010fms.1_Missense_Mutation_p.D311E|FAM123C_uc010fmt.1_Missense_Mutation_p.D311E|FAM123C_uc010fmu.1_Missense_Mutation_p.D311E NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 311 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GGTTCTGGGACAGTGTGAATC 0.652 30 46 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133540424 133540424 + Missense_Mutation SNP T G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:133540424T>G uc002ttp.2 - 14 4334 c.3960A>C c.(3958-3960)GAA>GAC p.E1320D NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1320 protein binding 0 TGGGAGAGCTTTCCGTGGAAG 0.612 3 71 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133540837 133540837 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:133540837C>A uc002ttp.2 - 14 3921 c.3547G>T c.(3547-3549)GTG>TTG p.V1183L NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1183 protein binding 0 TTCACAGCCACGGAACTTTTG 0.483 18 64 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133547683 133547683 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:133547683G>T uc002ttp.2 - 13 1379 c.1005C>A c.(1003-1005)AGC>AGA p.S335R NCKAP5_uc002ttq.2_Missense_Mutation_p.S335R NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 335 Ser-rich. protein binding 0 ACAGTTCACTGCTGCTACTGT 0.522 16 30 --- --- --- --- PASS TMEM163 81615 broad.mit.edu 37 2 135308166 135308166 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:135308166C>A uc002ttx.2 - 4 499 c.433G>T c.(433-435)GTG>TTG p.V145L TMEM163_uc002tty.2_RNA NM_030923 NP_112185 Q8TC26 TM163_HUMAN transmembrane protein 163 145 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(221;0.154) GCAGAGTGCACAGCGGCCGCG 0.537 30 58 --- --- --- --- PASS YSK4 80122 broad.mit.edu 37 2 135741288 135741288 + Silent SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:135741288T>C uc002tue.1 - 8 3211 c.3180A>G c.(3178-3180)CTA>CTG p.L1060L YSK4_uc002tuf.1_Silent_p.L242L|YSK4_uc010fnc.1_Silent_p.L242L|YSK4_uc010fnd.1_Silent_p.L947L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.L788L|YSK4_uc002tui.3_Silent_p.L1077L NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 1060 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) CCTTGGTCCATAGGATAGGTT 0.348 57 76 --- --- --- --- PASS NXPH2 11249 broad.mit.edu 37 2 139428622 139428622 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:139428622C>A uc002tvi.2 - 2 665 c.665G>T c.(664-666)TGG>TTG p.W222L NM_007226 NP_009157 O95156 NXPH2_HUMAN neurexophilin 2 precursor 222 V (Cys-rich). neuropeptide signaling pathway extracellular region ovary(3)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(221;0.101) GGAGCACAACCAAGACACATG 0.448 10 53 --- --- --- --- PASS NXPH2 11249 broad.mit.edu 37 2 139428799 139428799 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:139428799G>T uc002tvi.2 - 2 488 c.488C>A c.(487-489)CCC>CAC p.P163H NM_007226 NP_009157 O95156 NXPH2_HUMAN neurexophilin 2 precursor 163 III. neuropeptide signaling pathway extracellular region ovary(3)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(221;0.101) CACCTTGGAGGGTGGTACCAA 0.443 10 40 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141253291 141253291 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:141253291C>A uc002tvj.1 - 56 9849 c.8877G>T c.(8875-8877)CTG>CTT p.L2959L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2959 Extracellular (Potential).|EGF-like 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CGTCATCCTTCAGTTGGAATC 0.408 TSP Lung(27;0.18) 8 57 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141571229 141571229 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:141571229T>C uc002tvj.1 - 32 6328 c.5356A>G c.(5356-5358)ATG>GTG p.M1786V NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1786 Extracellular (Potential).|LDL-receptor class B 17. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACTTACCCATGATGGTTAGG 0.363 TSP Lung(27;0.18) 36 84 --- --- --- --- PASS GTDC1 79712 broad.mit.edu 37 2 144899607 144899607 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:144899607C>G uc002tvp.2 - 6 642 c.363G>C c.(361-363)GTG>GTC p.V121V GTDC1_uc002tvo.2_Silent_p.V121V|GTDC1_uc002tvq.2_Silent_p.V121V|GTDC1_uc002tvr.2_Silent_p.V121V|GTDC1_uc010fnn.2_Silent_p.V121V|GTDC1_uc002tvs.2_Silent_p.V89V|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Silent_p.V121V NM_001006636 NP_001006637 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 121 biosynthetic process transferase activity, transferring glycosyl groups ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.0914) TGAATACAACCACATCAGCCA 0.378 27 47 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152404000 152404000 + Silent SNP A C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:152404000A>C uc010fnx.2 - 105 15398 c.15207T>G c.(15205-15207)TCT>TCG p.S5069S NEB_uc002txr.2_Silent_p.S1492S NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5069 Nebulin 139. 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) TGTATGGCAGAGAGATCATGT 0.423 3 16 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 155115539 155115539 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:155115539C>G uc002tyr.3 + 8 1430 c.863C>G c.(862-864)CCT>CGT p.P288R GALNT13_uc002tyt.3_Missense_Mutation_p.P288R|GALNT13_uc010foc.1_Missense_Mutation_p.P107R|GALNT13_uc010fod.2_Missense_Mutation_p.P41R NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 288 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 ACTAGGACCCCTACTATGGCT 0.353 10 47 --- --- --- --- PASS KCNJ3 3760 broad.mit.edu 37 2 155711481 155711481 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:155711481T>A uc002tyv.1 + 3 1357 c.1162T>A c.(1162-1164)TGC>AGC p.C388S KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 388 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) TTCTGTGGAATGCTTAGATGG 0.393 39 167 --- --- --- --- PASS GALNT5 11227 broad.mit.edu 37 2 158142595 158142595 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:158142595G>T uc002tzg.2 + 3 1945 c.1690G>T c.(1690-1692)GAG>TAG p.E564* GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 564 Catalytic subdomain A.|Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 TCGCCTCAAAGAGAGACATGG 0.348 34 71 --- --- --- --- PASS CCDC148 130940 broad.mit.edu 37 2 159028705 159028705 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:159028705A>G uc002tzq.2 - 14 1959 c.1696T>C c.(1696-1698)TAT>CAT p.Y566H CCDC148_uc002tzr.2_Missense_Mutation_p.Y414H|CCDC148_uc010foh.2_Missense_Mutation_p.Y279H NM_138803 NP_620158 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 566 ovary(2) 2 TCTTTAGCATAAAGTGTTCTA 0.323 27 122 --- --- --- --- PASS BAZ2B 29994 broad.mit.edu 37 2 160304783 160304783 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:160304783C>A uc002uao.2 - 5 824 c.472G>T c.(472-474)GGA>TGA p.G158* BAZ2B_uc002uap.2_Nonsense_Mutation_p.G156*|BAZ2B_uc002uas.1_Nonsense_Mutation_p.G95*|BAZ2B_uc002uau.1_Nonsense_Mutation_p.G156*|BAZ2B_uc002uaq.1_Nonsense_Mutation_p.G86*|BAZ2B_uc002uat.3_Nonsense_Mutation_p.G95*|BAZ2B_uc010fop.1_Nonsense_Mutation_p.G156* NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 158 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 TTACTTTTTCCCGAAGTCCTT 0.378 25 134 --- --- --- --- PASS LY75 4065 broad.mit.edu 37 2 160741801 160741801 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:160741801C>A uc002ubc.3 - 6 986 c.917G>T c.(916-918)AGG>ATG p.R306M LY75_uc002ubb.3_Missense_Mutation_p.R306M|LY75_uc010fos.2_Missense_Mutation_p.R306M|LY75_uc010fot.1_Missense_Mutation_p.R306M NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 306 Extracellular (Potential).|C-type lectin 1. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) TGCACTGGGCCTGTCTTAAAA 0.428 71 137 --- --- --- --- PASS SCN3A 6328 broad.mit.edu 37 2 166027021 166027021 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:166027021C>A uc002ucx.2 - 4 794 c.302G>T c.(301-303)CGA>CTA p.R101L SCN3A_uc002ucy.2_Missense_Mutation_p.R101L|SCN3A_uc002ucz.2_Missense_Mutation_p.R101L|SCN3A_uc002uda.1_5'Flank|SCN3A_uc002udb.1_5'Flank NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 101 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) GGCACTGAATCGGAAAATTGC 0.308 62 65 --- --- --- --- PASS SCN2A 6326 broad.mit.edu 37 2 166245798 166245798 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:166245798C>G uc002udc.2 + 27 5772 c.5482C>G c.(5482-5484)CCT>GCT p.P1828A SCN2A_uc002udd.2_Missense_Mutation_p.P1828A|SCN2A_uc002ude.2_Missense_Mutation_p.P1828A NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1828 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) CCTGGATCCTCCTCTTCTCAT 0.458 30 134 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166848855 166848855 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:166848855C>T uc010zcz.1 - 26 4915 c.4897G>A c.(4897-4899)GGC>AGC p.G1633S NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1644 Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).|IV. 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) AGGATTCGGCCAATCCTAGCA 0.473 32 146 --- --- --- --- PASS SCN7A 6332 broad.mit.edu 37 2 167301326 167301326 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:167301326C>A uc002udu.1 - 12 1699 c.1572G>T c.(1570-1572)TTG>TTT p.L524F SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 524 Helical; Name=S1 of repeat II; (By similarity). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 GATAATGCTCCAAGGTCAGAA 0.318 12 15 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168100283 168100283 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:168100283G>T uc002udx.2 + 8 2399 c.2381G>T c.(2380-2382)GGA>GTA p.G794V XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G619V|XIRP2_uc010fpq.2_Missense_Mutation_p.G572V|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 619 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GTTGTCCGAGGAATATCCATG 0.408 25 92 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168104217 168104217 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:168104217G>T uc002udx.2 + 8 6333 c.6315G>T c.(6313-6315)CTG>CTT p.L2105L XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L1930L|XIRP2_uc010fpq.2_Silent_p.L1883L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1930 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TGAGAGAGCTGAAGAAGGATG 0.383 28 45 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168105195 168105195 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:168105195G>T uc002udx.2 + 8 7311 c.7293G>T c.(7291-7293)AAG>AAT p.K2431N XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K2256N|XIRP2_uc010fpq.2_Missense_Mutation_p.K2209N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2256 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AACTTCCCAAGCATATAAAAG 0.403 48 74 --- --- --- --- PASS B3GALT1 8708 broad.mit.edu 37 2 168726221 168726221 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:168726221G>A uc002udz.1 + 2 1023 c.672G>A c.(670-672)AGG>AGA p.R224R NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 224 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 ATATGCCCAGGGATTTGTACC 0.478 15 75 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170103263 170103263 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:170103263C>G uc002ues.2 - 21 3355 c.3142G>C c.(3142-3144)GTC>CTC p.V1048L LRP2_uc010zdf.1_Missense_Mutation_p.V911L NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1048 LDL-receptor class A 8.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CAATCATCGACTCCATCACAG 0.463 69 282 --- --- --- --- PASS WIPF1 7456 broad.mit.edu 37 2 175437023 175437023 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:175437023C>A uc002uiy.2 - 6 842 c.510G>T c.(508-510)CCG>CCT p.P170P uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Silent_p.P170P|WIPF1_uc010fqt.1_Silent_p.P170P|WIPF1_uc002ujc.1_Silent_p.P170P|WIPF1_uc002uiz.2_Silent_p.P170P|WIPF1_uc002ujb.1_Silent_p.P170P|WIPF1_uc010zep.1_Silent_p.P170P NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 170 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 GCCTTGGGGGCGGCATTCGGT 0.602 36 99 --- --- --- --- PASS HOXD12 3238 broad.mit.edu 37 2 176965022 176965022 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:176965022G>T uc010zev.1 + 1 493 c.493G>T c.(493-495)GAC>TAC p.D165Y HOXD12_uc010zew.1_Missense_Mutation_p.D165Y NM_021193 NP_067016 P35452 HXD12_HUMAN homeobox D12 165 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) CTTCAAGGACGACACCAAGGG 0.652 14 36 --- --- --- --- PASS MIR1246 100302142 broad.mit.edu 37 2 177465737 177465737 + RNA SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:177465737G>T hsa-mir-1246|MI0006381 - c.44G>T 0 atttcctttgggtcaggtgtc 0.189 56 252 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179431400 179431400 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:179431400T>C uc010zfg.1 - 275 71979 c.71755A>G c.(71755-71757)AAA>GAA p.K23919E uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K17614E|TTN_uc010zfi.1_Missense_Mutation_p.K17547E|TTN_uc010zfj.1_Missense_Mutation_p.K17422E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24846 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) GGGCCAGGTTTGAACACAGGA 0.453 140 198 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179434750 179434750 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:179434750A>G uc010zfg.1 - 275 68629 c.68405T>C c.(68404-68406)ATA>ACA p.I22802T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I16497T|TTN_uc010zfi.1_Missense_Mutation_p.I16430T|TTN_uc010zfj.1_Missense_Mutation_p.I16305T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23729 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) GTGATTTTCTATGAGTCCAGT 0.438 23 68 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179437167 179437167 + Silent SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:179437167T>C uc010zfg.1 - 275 66212 c.65988A>G c.(65986-65988)AAA>AAG p.K21996K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K15691K|TTN_uc010zfi.1_Silent_p.K15624K|TTN_uc010zfj.1_Silent_p.K15499K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22923 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) TTGAATATGCTTTTCTTGTTG 0.428 21 56 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179439252 179439252 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:179439252A>T uc010zfg.1 - 275 64127 c.63903T>A c.(63901-63903)AAT>AAA p.N21301K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N14996K|TTN_uc010zfi.1_Missense_Mutation_p.N14929K|TTN_uc010zfj.1_Missense_Mutation_p.N14804K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22228 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) AGAGAATACCATTTCGTTCTT 0.418 56 251 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179486603 179486603 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:179486603T>C uc010zfg.1 - 193 37566 c.37342A>G c.(37342-37344)AGG>GGG p.R12448G TTN_uc010zfh.1_Missense_Mutation_p.R6143G|TTN_uc010zfi.1_Missense_Mutation_p.R6076G|TTN_uc010zfj.1_Missense_Mutation_p.R5951G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13375 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) CTCGCTGTCCTTACTTCACAG 0.383 13 61 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179585181 179585181 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:179585181C>T uc010zfg.1 - 77 19800 c.19576G>A c.(19576-19578)GGG>AGG p.G6526R TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3187R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7453 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) TGATATTCCCCGACATCGGAG 0.373 39 137 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179605898 179605898 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:179605898G>T uc010zfh.1 - 46 11773 c.11549C>A c.(11548-11550)ACC>AAC p.T3850N TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.T3783N|TTN_uc010zfj.1_Missense_Mutation_p.T3658N|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 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) TGCTGCACAGGTGGACTCACC 0.493 28 136 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179611228 179611228 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:179611228G>T uc002unb.2 - 46 16123 c.15899C>A c.(15898-15900)ACA>AAA p.T5300K 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) TCTTGATGATGTGGTGTGTTC 0.403 19 71 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179640772 179640772 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:179640772C>G uc010zfg.1 - 28 6043 c.5819G>C c.(5818-5820)AGG>ACG p.R1940T TTN_uc010zfh.1_Missense_Mutation_p.R1894T|TTN_uc010zfi.1_Missense_Mutation_p.R1894T|TTN_uc010zfj.1_Missense_Mutation_p.R1894T|TTN_uc002unb.2_Missense_Mutation_p.R1940T|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1940 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) AGGAGCTCTCCTAAGGACAGA 0.453 58 222 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179644907 179644907 + Silent SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:179644907G>C uc010zfg.1 - 22 3773 c.3549C>G c.(3547-3549)TCC>TCG p.S1183S TTN_uc010zfh.1_Silent_p.S1137S|TTN_uc010zfi.1_Silent_p.S1137S|TTN_uc010zfj.1_Silent_p.S1137S|TTN_uc002unb.2_Silent_p.S1183S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1183 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) TTTCTTGCTGGGACTTCATCA 0.328 26 105 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179658139 179658139 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:179658139G>C uc010zfg.1 - 9 1752 c.1528C>G c.(1528-1530)CAT>GAT p.H510D TTN_uc010zfh.1_Missense_Mutation_p.H510D|TTN_uc010zfi.1_Missense_Mutation_p.H510D|TTN_uc010zfj.1_Missense_Mutation_p.H510D|TTN_uc002unb.2_Missense_Mutation_p.H510D|TTN_uc010frg.1_Missense_Mutation_p.H184D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 510 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) ACCTGCTCATGAGTTACGTGC 0.403 127 179 --- --- --- --- PASS CERKL 375298 broad.mit.edu 37 2 182409456 182409456 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:182409456G>T uc002unx.2 - 12 1515 c.1414C>A c.(1414-1416)CTG>ATG p.L472M CERKL_uc002uny.2_Missense_Mutation_p.L446M|CERKL_uc010zfm.1_Missense_Mutation_p.L428M|CERKL_uc002unz.2_Missense_Mutation_p.L194M|CERKL_uc002uoa.2_Missense_Mutation_p.L377M|CERKL_uc002uob.2_Missense_Mutation_p.L194M|CERKL_uc002uoc.2_Missense_Mutation_p.L333M|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.L241M|CERKL_uc002unw.2_Missense_Mutation_p.L42M NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 472 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) TATCTTTTCAGGTGTTTTATA 0.294 41 48 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185802585 185802585 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:185802585C>G uc002uph.2 + 4 3056 c.2462C>G c.(2461-2463)CCC>CGC p.P821R NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 821 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 AGATTCCACCCCGGATTTGAA 0.388 26 59 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 186678561 186678561 + RNA SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:186678561C>G uc002upm.2 + 2 c.3199C>G uc010zfu.1_Missense_Mutation_p.T1204R Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669. ACACTAAGCACGAGCAGCCTG 0.358 32 39 --- --- --- --- PASS ITGAV 3685 broad.mit.edu 37 2 187521118 187521118 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:187521118C>T uc002upq.2 + 17 1985 c.1709C>T c.(1708-1710)GCG>GTG p.A570V ITGAV_uc010frs.2_Missense_Mutation_p.A534V|ITGAV_uc010zfv.1_Missense_Mutation_p.A524V NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 570 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GAATTGATAGCGTATCTGCGG 0.403 94 142 --- --- --- --- PASS SGOL2 151246 broad.mit.edu 37 2 201438624 201438624 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:201438624A>T uc002uvw.2 + 7 3668 c.3555A>T c.(3553-3555)CAA>CAT p.Q1185H SGOL2_uc010zhd.1_Missense_Mutation_p.Q1185H|SGOL2_uc010zhe.1_Missense_Mutation_p.Q1185H NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 1185 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 CAGCCTTTCAAGTAAGTGATG 0.363 55 79 --- --- --- --- PASS AOX1 316 broad.mit.edu 37 2 201515773 201515773 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:201515773A>T uc002uvx.2 + 26 3025 c.2924A>T c.(2923-2925)CAG>CTG p.Q975L AOX1_uc010zhf.1_Missense_Mutation_p.Q531L|AOX1_uc010fsu.2_Missense_Mutation_p.Q341L NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 975 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) AACCTAATCCAGTGTTGGAGA 0.398 35 123 --- --- --- --- PASS CASP10 843 broad.mit.edu 37 2 202074132 202074132 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:202074132A>T uc002uxl.1 + 9 1680 c.1262A>T c.(1261-1263)CAG>CTG p.Q421L CASP10_uc002uxj.1_Missense_Mutation_p.Q421L|CASP10_uc002uxk.1_Missense_Mutation_p.Q378L|CASP10_uc010fta.1_Missense_Mutation_p.Q354L|CASP10_uc002uxm.1_Missense_Mutation_p.Q378L|CASP10_uc010ftb.1_RNA NM_032974 NP_116756 Q92851 CASPA_HUMAN caspase 10 isoform b preproprotein 421 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding skin(3)|ovary(1)|pancreas(1)|breast(1) 6 AACCCTGAGCAGGCACCCACT 0.527 65 110 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207172542 207172542 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:207172542G>T uc002vbp.2 + 5 3540 c.3290G>T c.(3289-3291)TGG>TTG p.W1097L NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1097 Potential. nucleic acid binding|zinc ion binding ovary(3) 3 ATAGACCAATGGAAGGAAGAG 0.323 20 51 --- --- --- --- PASS MDH1B 130752 broad.mit.edu 37 2 207625738 207625738 + Splice_Site SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:207625738C>A uc002vbs.2 - 2 78 c.23_splice c.e2-1 p.G8_splice MDH1B_uc010ziw.1_Splice_Site|MDH1B_uc010fui.2_Splice_Site_p.G8_splice|MDH1B_uc010fuj.2_Intron|MDH1B_uc002vbt.2_Splice_Site NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 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) TCTGCTCTACCTAAAAGAGTT 0.308 83 107 --- --- --- --- PASS ERBB4 2066 broad.mit.edu 37 2 212248595 212248595 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:212248595G>T uc002veg.1 - 28 3770 c.3672C>A c.(3670-3672)AAC>AAA p.N1224K ERBB4_uc002veh.1_Missense_Mutation_p.N1208K|ERBB4_uc010zji.1_Missense_Mutation_p.N1214K|ERBB4_uc010zjj.1_Missense_Mutation_p.N1198K NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1224 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ACAGTATGTTGTTCTTCAGGT 0.522 TSP Lung(8;0.080) 48 204 --- --- --- --- PASS ERBB4 2066 broad.mit.edu 37 2 212295689 212295689 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:212295689T>A uc002veg.1 - 21 2722 c.2624A>T c.(2623-2625)TAC>TTC p.Y875F ERBB4_uc002veh.1_Missense_Mutation_p.Y875F|ERBB4_uc010zji.1_Missense_Mutation_p.Y865F|ERBB4_uc010zjj.1_Missense_Mutation_p.Y865F NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 875 Protein kinase.|Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ATCAGCATTGTACTCTTTTTC 0.378 TSP Lung(8;0.080) 33 132 --- --- --- --- PASS ABCA12 26154 broad.mit.edu 37 2 215884167 215884167 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:215884167A>T uc002vew.2 - 13 1770 c.1550T>A c.(1549-1551)CTA>CAA p.L517Q ABCA12_uc002vev.2_Missense_Mutation_p.L199Q|ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 517 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TGCCTGTTCTAGAAACCTGGA 0.343 24 111 --- --- --- --- PASS PRKAG3 53632 broad.mit.edu 37 2 219694976 219694976 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:219694976C>A uc002vjb.1 - 4 377 c.358G>T c.(358-360)GAC>TAC p.D120Y PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Missense_Mutation_p.D120Y|PRKAG3_uc010zko.1_Missense_Mutation_p.D116Y NM_017431 NP_059127 Q9UGI9 AAKG3_HUMAN AMP-activated protein kinase, non-catalytic 120 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding ovary(1)|lung(1) 2 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTGTACAGTCAGAGGGGAGG 0.637 14 35 --- --- --- --- PASS CCDC108 255101 broad.mit.edu 37 2 219870807 219870807 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:219870807C>A uc002vjl.1 - 31 4942 c.4858G>T c.(4858-4860)GCC>TCC p.A1620S NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 1620 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTGGCATGGGCTCGGGCAGTA 0.607 9 68 --- --- --- --- PASS PTPRN 5798 broad.mit.edu 37 2 220159714 220159714 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:220159714G>T uc002vkz.2 - 19 2747 c.2658C>A c.(2656-2658)CCC>CCA p.P886P PTPRN_uc010zlc.1_Silent_p.P796P|PTPRN_uc002vla.2_Silent_p.P857P|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 886 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) AGTCCAGCAGGGGCCGCGTGG 0.746 3 4 --- --- --- --- PASS PTPRN 5798 broad.mit.edu 37 2 220161834 220161834 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:220161834C>A uc002vkz.2 - 15 2198 c.2109G>T c.(2107-2109)CTG>CTT p.L703L PTPRN_uc010zlc.1_Silent_p.L613L|PTPRN_uc002vla.2_Silent_p.L674L|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 703 Cytoplasmic (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CCCGGTTCCGCAGGTGATCCT 0.632 19 20 --- --- --- --- PASS DES 1674 broad.mit.edu 37 2 220285300 220285300 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:220285300C>A uc002vll.2 + 4 905 c.819C>A c.(817-819)GCC>GCA p.A273A NM_001927 NP_001918 P17661 DESM_HUMAN desmin 273 Rod.|Coil 2A. cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton central_nervous_system(2) 2 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) TCACTGCCGCCCTCAGGGACA 0.587 39 33 --- --- --- --- PASS OBSL1 23363 broad.mit.edu 37 2 220422698 220422698 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:220422698C>A uc010fwk.2 - 11 3694 c.3637G>T c.(3637-3639)GTG>TTG p.V1213L OBSL1_uc002vmh.1_Missense_Mutation_p.V204L|OBSL1_uc010zli.1_Missense_Mutation_p.V112L|OBSL1_uc010fwl.1_Missense_Mutation_p.V688L NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 1213 Ig-like 10. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CCCTCCTGCACGGGCCTCCCA 0.701 6 18 --- --- --- --- PASS SLC4A3 6508 broad.mit.edu 37 2 220494051 220494051 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:220494051G>C uc002vmp.3 + 4 672 c.403G>C c.(403-405)GAT>CAT p.D135H SLC4A3_uc002vmn.2_Missense_Mutation_p.D135H|SLC4A3_uc002vmo.3_Missense_Mutation_p.D135H|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 135 Cytoplasmic. bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGGAGTggatgaggaaga 0.527 19 17 --- --- --- --- PASS SLC4A3 6508 broad.mit.edu 37 2 220500081 220500081 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:220500081C>T uc002vmp.3 + 13 2104 c.1835C>T c.(1834-1836)CCC>CTC p.P612L SLC4A3_uc002vmo.3_Missense_Mutation_p.P639L|SLC4A3_uc010fwm.2_Missense_Mutation_p.P162L|SLC4A3_uc010fwn.1_Missense_Mutation_p.P121L NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 612 Cytoplasmic. bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATTGTGATCCCCCCGTCCGAG 0.612 28 66 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228860331 228860331 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:228860331G>T uc002vpq.2 - 8 4575 c.4528C>A c.(4528-4530)CCA>ACA p.P1510T SPHKAP_uc002vpp.2_Missense_Mutation_p.P1510T|SPHKAP_uc010zlx.1_Intron NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1510 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) CTGCTGCTTGGAGGGTTGGGG 0.557 25 95 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228882714 228882714 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:228882714G>T uc002vpq.2 - 7 2903 c.2856C>A c.(2854-2856)TCC>TCA p.S952S SPHKAP_uc002vpp.2_Silent_p.S952S|SPHKAP_uc010zlx.1_Silent_p.S952S NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 952 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) GTTTTCCACTGGAGTTGTCAA 0.483 48 148 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228883481 228883481 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:228883481G>A uc002vpq.2 - 7 2136 c.2089C>T c.(2089-2091)CAT>TAT p.H697Y SPHKAP_uc002vpp.2_Missense_Mutation_p.H697Y|SPHKAP_uc010zlx.1_Missense_Mutation_p.H697Y NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 697 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) TCAGATGAATGCCTGTTGTCA 0.398 63 264 --- --- --- --- PASS DNER 92737 broad.mit.edu 37 2 230223351 230223351 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:230223351G>A uc002vpv.2 - 13 2266 c.2119C>T c.(2119-2121)CGG>TGG p.R707W NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 707 Cytoplasmic (Potential). central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) ATTGCAGGCCGGGATTTCTTT 0.363 20 87 --- --- --- --- PASS ALPI 248 broad.mit.edu 37 2 233323623 233323623 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:233323623G>T uc002vst.3 + 11 1431 c.1354G>T c.(1354-1356)GGA>TGA p.G452* ALPI_uc002vsu.3_Nonsense_Mutation_p.G363* NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 452 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CGAGACCCACGGAGGCGAAGA 0.692 7 16 --- --- --- --- PASS CHRND 1144 broad.mit.edu 37 2 233396137 233396137 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:233396137T>A uc002vsw.2 + 8 900 c.896T>A c.(895-897)CTG>CAG p.L299Q CHRND_uc010zmg.1_Missense_Mutation_p.L284Q|CHRND_uc010fyc.2_Missense_Mutation_p.L172Q|CHRND_uc010zmh.1_Missense_Mutation_p.L105Q NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 299 Helical; (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) TCCAAGCGTCTGCCTGCCACA 0.607 33 55 --- --- --- --- PASS IQCA1 79781 broad.mit.edu 37 2 237272468 237272468 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:237272468G>T uc002vvz.1 - 15 2006 c.1824C>A c.(1822-1824)TAC>TAA p.Y608* IQCA1_uc002vwb.2_Nonsense_Mutation_p.Y616*|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Nonsense_Mutation_p.Y567* NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 608 ATP binding ovary(1) 1 TTTTGCCAGGGTATTTCCCAG 0.473 84 79 --- --- --- --- PASS COL6A3 1293 broad.mit.edu 37 2 238243328 238243328 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:238243328G>A uc002vwl.2 - 41 9455 c.9170C>T c.(9169-9171)GCT>GTT p.A3057V COL6A3_uc002vwo.2_Missense_Mutation_p.A2851V|COL6A3_uc010znj.1_Missense_Mutation_p.A2450V|COL6A3_uc002vwj.2_Missense_Mutation_p.A438V NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 3057 Fibronectin type-III.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCAGACCACAGCCACATGGTA 0.537 24 50 --- --- --- --- PASS HDAC4 9759 broad.mit.edu 37 2 239990258 239990258 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:239990258C>A uc002vyk.3 - 23 3573 c.2781G>T c.(2779-2781)GTG>GTT p.V927V HDAC4_uc010fyy.2_Silent_p.V884V NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 927 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) ATGACACCAGCACCACATCCG 0.597 30 59 --- --- --- --- PASS ANKMY1 51281 broad.mit.edu 37 2 241468696 241468696 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:241468696C>A uc002vyz.1 - 4 673 c.444G>T c.(442-444)CAG>CAT p.Q148H ANKMY1_uc002vza.1_Intron|ANKMY1_uc010fzd.1_Missense_Mutation_p.Q237H|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 148 zinc ion binding central_nervous_system(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) AAAAGGGATCCTGTCCCTCCT 0.517 19 54 --- --- --- --- PASS CAPN10 11132 broad.mit.edu 37 2 241528825 241528825 + Silent SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:241528825G>C uc002vzk.1 + 2 391 c.207G>C c.(205-207)CTG>CTC p.L69L CAPN10_uc010zoh.1_Silent_p.L69L|CAPN10_uc002vzl.1_Silent_p.L69L|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_5'UTR|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Silent_p.L69L NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 69 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) AGCAGGGGCTGCTGGGGGATT 0.607 94 126 --- --- --- --- PASS PASK 23178 broad.mit.edu 37 2 242066238 242066238 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:242066238C>G uc002wao.1 - 10 2184 c.2092G>C c.(2092-2094)GAT>CAT p.D698H PASK_uc010zol.1_Missense_Mutation_p.D512H|PASK_uc010zom.1_Missense_Mutation_p.D663H|PASK_uc010fzl.1_Missense_Mutation_p.D698H|PASK_uc010zon.1_Missense_Mutation_p.D479H|PASK_uc002wap.2_Missense_Mutation_p.D241H|PASK_uc002waq.2_Missense_Mutation_p.D698H NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 698 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CCTCCCAGATCGCAGGACGAC 0.667 58 104 --- --- --- --- PASS CNTN4 152330 broad.mit.edu 37 3 2908472 2908472 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:2908472C>A uc003bpc.2 + 7 712 c.491C>A c.(490-492)TCC>TAC p.S164Y CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.S164Y NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 164 Ig-like C2-type 2. 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) GAATACCCTTCCTATCAGGAT 0.383 105 94 --- --- --- --- PASS GRM7 2917 broad.mit.edu 37 3 7456800 7456800 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:7456800A>T uc003bqm.2 + 5 1398 c.1124A>T c.(1123-1125)AAG>ATG p.K375M GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.K375M|GRM7_uc003bql.2_Missense_Mutation_p.K375M|GRM7_uc003bqn.1_Translation_Start_Site NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 375 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) TTCAACTGCAAGTTGACGATT 0.413 64 46 --- --- --- --- PASS FGD5 152273 broad.mit.edu 37 3 14964614 14964614 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:14964614C>A uc003bzc.2 + 16 3979 c.3869C>A c.(3868-3870)GCC>GAC p.A1290D FGD5_uc011avk.1_Missense_Mutation_p.A1290D|FGD5_uc003bzd.2_Missense_Mutation_p.A368D NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1290 FYVE-type. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 GACAGGATGGCCAAGGTCTGC 0.607 39 38 --- --- --- --- PASS ZCWPW2 152098 broad.mit.edu 37 3 28454649 28454649 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:28454649G>T uc003ceh.2 + 3 258 c.90G>T c.(88-90)TGG>TGT p.W30C ZCWPW2_uc003cei.2_Missense_Mutation_p.W30C NM_001040432 NP_001035522 Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 30 CW-type. zinc ion binding ovary(2) 2 ACAAAGTGTGGGTTCAATGTG 0.338 60 66 --- --- --- --- PASS RBMS3 27303 broad.mit.edu 37 3 30032588 30032588 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:30032588A>T uc003cel.2 + 14 1425 c.1195A>T c.(1195-1197)ACC>TCC p.T399S RBMS3_uc003cek.2_Missense_Mutation_p.T383S|RBMS3_uc010hfq.2_Missense_Mutation_p.T396S|RBMS3_uc003cem.2_Missense_Mutation_p.T381S|RBMS3_uc010hfr.2_Missense_Mutation_p.T383S NM_001003793 NP_001003793 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting 399 cytoplasm nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(412;0.0956) TGTTGCTGATACCTCTCCCCA 0.483 35 23 --- --- --- --- PASS PDCD6IP 10015 broad.mit.edu 37 3 33877570 33877570 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:33877570G>T uc003cfx.2 + 8 1024 c.869G>T c.(868-870)CGC>CTC p.R290L PDCD6IP_uc003cfy.2_Missense_Mutation_p.R295L|PDCD6IP_uc011axw.1_Missense_Mutation_p.R71L NM_013374 NP_037506 Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 290 Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding ovary(1)|skin(1) 2 GTGGCATCTCGCTATGATGAA 0.358 98 97 --- --- --- --- PASS OXSR1 9943 broad.mit.edu 37 3 38271889 38271889 + Nonsense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:38271889A>T uc003chy.2 + 10 1261 c.919A>T c.(919-921)AGA>TGA p.R307* OXSR1_uc010hhb.2_Nonsense_Mutation_p.R241*|OXSR1_uc010hha.1_Nonsense_Mutation_p.R239* NM_005109 NP_005100 O95747 OXSR1_HUMAN oxidative-stress responsive 1 307 intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) AACATTGCAGAGAGCACCAAC 0.284 80 55 --- --- --- --- PASS SCN5A 6331 broad.mit.edu 37 3 38603979 38603979 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:38603979C>A uc003cio.2 - 22 4084 c.3890G>T c.(3889-3891)GGC>GTC p.G1297V SCN5A_uc003cin.2_Missense_Mutation_p.G1296V|SCN5A_uc003cil.3_Missense_Mutation_p.G1297V|SCN5A_uc010hhi.2_Missense_Mutation_p.G1297V|SCN5A_uc010hhk.2_Missense_Mutation_p.G1296V|SCN5A_uc011ayr.1_Missense_Mutation_p.G1243V|SCN5A_uc010hhj.1_Missense_Mutation_p.G907V NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1297 Helical; Voltage-sensor; Name=S4 of repeat III; (Potential). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTTGATGGGGCCCATCTCGGC 0.602 18 12 --- --- --- --- PASS SCN5A 6331 broad.mit.edu 37 3 38616872 38616872 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:38616872C>T uc003cio.2 - 20 3776 c.3582G>A c.(3580-3582)TTG>TTA p.L1194L SCN5A_uc003cin.2_Silent_p.L1193L|SCN5A_uc003cil.3_Silent_p.L1194L|SCN5A_uc010hhi.2_Silent_p.L1194L|SCN5A_uc010hhk.2_Silent_p.L1193L|SCN5A_uc011ayr.1_Silent_p.L1140L|SCN5A_uc010hhj.1_Silent_p.L804L NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1194 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AGGTCTTGCGCAACCGCCACC 0.612 8 4 --- --- --- --- PASS SCN5A 6331 broad.mit.edu 37 3 38639229 38639229 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:38639229G>A uc003cio.2 - 14 2447 c.2253C>T c.(2251-2253)GTC>GTT p.V751V SCN5A_uc003cin.2_Silent_p.V751V|SCN5A_uc003cil.3_Silent_p.V751V|SCN5A_uc010hhi.2_Silent_p.V751V|SCN5A_uc010hhk.2_Silent_p.V751V|SCN5A_uc011ayr.1_Silent_p.V751V|SCN5A_uc010hhj.1_Silent_p.V362V NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 751 Helical; Name=S2 of repeat II; (Potential). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCAGGTTTCCGACCTGCAGCA 0.547 35 28 --- --- --- --- PASS SCN11A 11280 broad.mit.edu 37 3 38888717 38888717 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:38888717T>A uc011ays.1 - 26 5043 c.4844A>T c.(4843-4845)GAG>GTG p.E1615V NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1615 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) CAAAGGGTCCTCACTTTCTTC 0.373 81 75 --- --- --- --- PASS TTC21A 199223 broad.mit.edu 37 3 39167842 39167842 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:39167842G>C uc003cjc.2 + 12 1684 c.1507G>C c.(1507-1509)GAC>CAC p.D503H TTC21A_uc003cje.2_Missense_Mutation_p.D503H|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.D454H NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 503 TPR 7. binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) AGCTCTGATCGACCCCCTGTA 0.542 70 53 --- --- --- --- PASS LARS2 23395 broad.mit.edu 37 3 45458977 45458977 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:45458977A>G uc003cop.1 + 5 552 c.367A>G c.(367-369)ATC>GTC p.I123V LARS2_uc010hit.1_Missense_Mutation_p.I80V NM_015340 NP_056155 Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 123 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) GTCCTAGGTCATCAACCCCAT 0.458 89 58 --- --- --- --- PASS SMARCC1 6599 broad.mit.edu 37 3 47742767 47742767 + Splice_Site SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:47742767C>A uc003crq.2 - 11 1283 c.1165_splice c.e11+1 p.V389_splice SMARCC1_uc011bbd.1_Splice_Site_p.V280_splice NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) AGAATACAAACCATTTTTGGG 0.398 54 46 --- --- --- --- PASS PARP3 10039 broad.mit.edu 37 3 51978871 51978871 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:51978871C>T uc003dby.2 + 5 950 c.579C>T c.(577-579)ATC>ATT p.I193I RRP9_uc003dbw.1_5'Flank|PARP3_uc003dbz.2_Silent_p.I200I NM_005485 NP_005476 Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 193 PARP alpha-helical. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGAAGCTCATCACTAACATCT 0.607 23 20 --- --- --- --- PASS DNAH1 25981 broad.mit.edu 37 3 52356484 52356484 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:52356484A>G uc011bef.1 + 2 287 c.26A>G c.(25-27)TAT>TGT p.Y9C DNAH1_uc003ddt.1_Missense_Mutation_p.Y9C NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 9 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGTAAAGGCTATAGCCTGGGA 0.597 14 16 --- --- --- --- PASS STAB1 23166 broad.mit.edu 37 3 52544007 52544007 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:52544007G>A uc003dej.2 + 23 2543 c.2469G>A c.(2467-2469)GGG>GGA p.G823G NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 823 EGF-like 6.|Extracellular (Potential). cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GGGACTGTGGGCCCACAGGGC 0.677 54 43 --- --- --- --- PASS ITIH4 3700 broad.mit.edu 37 3 52855104 52855104 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:52855104C>T uc003dfz.2 - 12 1618 c.1582G>A c.(1582-1584)GAG>AAG p.E528K ITIH4_uc011bel.1_Missense_Mutation_p.E258K|ITIH4_uc003dfy.2_Missense_Mutation_p.E392K|ITIH4_uc011bem.1_Missense_Mutation_p.E528K|ITIH4_uc011ben.1_Missense_Mutation_p.E528K NM_002218 NP_002209 Q14624 ITIH4_HUMAN inter-alpha (globulin) inhibitor H4 528 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) GCCTCCTGCTCTGCCACACTG 0.577 OREG0015616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 94 70 --- --- --- --- PASS FLNB 2317 broad.mit.edu 37 3 58131689 58131689 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:58131689A>T uc003djj.2 + 33 5632 c.5467A>T c.(5467-5469)AGT>TGT p.S1823C FLNB_uc010hne.2_Missense_Mutation_p.S1854C|FLNB_uc003djk.2_Missense_Mutation_p.S1812C|FLNB_uc010hnf.2_Missense_Mutation_p.S1799C|FLNB_uc003djl.2_Missense_Mutation_p.S1643C|FLNB_uc003djm.2_Missense_Mutation_p.S1630C NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1823 Filamin 17. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CAACAGTGGAAGTGTTTCTGC 0.507 73 67 --- --- --- --- PASS PRICKLE2 166336 broad.mit.edu 37 3 64138884 64138884 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:64138884T>A uc003dmf.2 - 6 1347 c.761A>T c.(760-762)TAT>TTT p.Y254F NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 254 LIM zinc-binding 3. cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) GGTGTCACAATATTCTGCATA 0.498 98 93 --- --- --- --- PASS SHQ1 55164 broad.mit.edu 37 3 72891501 72891501 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:72891501C>A uc003dpf.2 - 3 368 c.261G>T c.(259-261)GGG>GGT p.G87G SHQ1_uc010hod.2_5'UTR NM_018130 NP_060600 Q6PI26 SHQ1_HUMAN SHQ1 homolog 87 CS. ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding ovary(2)|large_intestine(1) 3 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) ACATGTTCAGCCCCTCAAAAT 0.363 4 113 --- --- --- --- PASS VGLL3 389136 broad.mit.edu 37 3 87027808 87027808 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:87027808A>G uc003dqn.2 - 2 635 c.271T>C c.(271-273)TTC>CTC p.F91L NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 91 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) AAATAAGTGAAAAGGACACAG 0.403 47 40 --- --- --- --- PASS VGLL3 389136 broad.mit.edu 37 3 87027868 87027868 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:87027868C>T uc003dqn.2 - 2 575 c.211G>A c.(211-213)GAG>AAG p.E71K NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 71 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) tcctcctcctcctcctcctca 0.393 28 22 --- --- --- --- PASS MINA 84864 broad.mit.edu 37 3 97677934 97677934 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:97677934C>T uc003drz.1 - 4 1148 c.642G>A c.(640-642)GAG>GAA p.E214E MINA_uc003dsa.1_Silent_p.E214E|MINA_uc003dsb.1_Silent_p.E214E|MINA_uc003dsc.1_Silent_p.E214E|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_RNA NM_001042533 NP_001035998 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen isoform a 214 JmjC. ribosome biogenesis cytoplasm|nucleolus ovary(1) 1 CGATCCTTTCCTCGGCCTCCA 0.552 28 21 --- --- --- --- PASS OR5K3 403277 broad.mit.edu 37 3 98109766 98109766 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:98109766T>A uc011bgw.1 + 1 257 c.257T>A c.(256-258)TTT>TAT p.F86Y NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GAGAACTTCTTTTCTGAGGAC 0.413 280 186 --- --- --- --- PASS CCDC54 84692 broad.mit.edu 37 3 107097325 107097325 + Silent SNP T G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:107097325T>G uc003dwi.1 + 1 1138 c.891T>G c.(889-891)ACT>ACG p.T297T NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 297 0 GTCCATTCACTGGGCCCATTT 0.423 92 59 --- --- --- --- PASS PLCXD2 257068 broad.mit.edu 37 3 111426998 111426998 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:111426998T>C uc003dya.2 + 2 975 c.389T>C c.(388-390)TTC>TCC p.F130S PLCXD2_uc003dyb.2_Missense_Mutation_p.F130S|PLCXD2_uc003dxz.2_Missense_Mutation_p.F130S NM_001134478 NP_001127950 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X 130 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(1) 1 GAGATCTACTTCATCCATGGG 0.502 153 73 --- --- --- --- PASS CD200R1L 344807 broad.mit.edu 37 3 112546014 112546014 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:112546014C>A uc003dzi.1 - 4 731 c.505G>T c.(505-507)GCC>TCC p.A169S CD200R1L_uc011bhw.1_Missense_Mutation_p.A148S|CD200R1L_uc010hqf.1_Missense_Mutation_p.A148S NM_001008784 NP_001008784 Q6Q8B3 MO2R2_HUMAN CD200 cell surface glycoprotein receptor 2 169 Extracellular (Potential).|Ig-like C2-type. integral to membrane receptor activity ovary(1) 1 GAGATCTGGGCAGCTGGCTTC 0.493 35 19 --- --- --- --- PASS ZDHHC23 254887 broad.mit.edu 37 3 113673034 113673034 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:113673034G>T uc003eau.2 + 3 948 c.649G>T c.(649-651)GGG>TGG p.G217W ZDHHC23_uc003eav.2_Missense_Mutation_p.G211W NM_173570 NP_775841 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC domain containing 23 217 integral to membrane acyltransferase activity|zinc ion binding ovary(2) 2 GAGCAGAAAAGGGCAGGAGAA 0.557 113 96 --- --- --- --- PASS STXBP5L 9515 broad.mit.edu 37 3 120941900 120941900 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:120941900G>T uc003eec.3 + 11 1147 c.1007G>T c.(1006-1008)AGA>ATA p.R336I STXBP5L_uc011bji.1_Missense_Mutation_p.R336I NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 336 WD 6. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) AAAGCTTGTAGAAGACCAAGT 0.368 115 86 --- --- --- --- PASS MYLK 4638 broad.mit.edu 37 3 123452850 123452850 + Silent SNP C A A rs55932343 by1000genomes TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:123452850C>A uc003ego.2 - 10 1275 c.993G>T c.(991-993)ACG>ACT p.T331T MYLK_uc011bjw.1_Silent_p.T331T|MYLK_uc003egp.2_Silent_p.T331T|MYLK_uc003egq.2_Silent_p.T331T|MYLK_uc003egr.2_Silent_p.T331T|MYLK_uc003egs.2_Silent_p.T155T NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 331 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCTGCGGGGCCGTTCTGGGCG 0.652 87 45 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124201667 124201667 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:124201667C>A uc003ehg.2 + 28 4325 c.4198C>A c.(4198-4200)CGG>AGG p.R1400R KALRN_uc010hrv.1_Silent_p.R1391R|KALRN_uc003ehf.1_Silent_p.R1400R|KALRN_uc011bjy.1_Silent_p.R1391R|KALRN_uc003ehh.1_Silent_p.R746R NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1400 DH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GATACAACAGCGGCATGGTCT 0.507 75 59 --- --- --- --- PASS OSBPL11 114885 broad.mit.edu 37 3 125266342 125266342 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:125266342C>A uc003eic.2 - 10 2486 c.1749G>T c.(1747-1749)CTG>CTT p.L583L NM_022776 NP_073613 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 583 lipid transport lipid binding ovary(3)|breast(1)|kidney(1) 5 CTTTGCCACCCAGTTCTACCC 0.438 84 44 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 140282882 140282882 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:140282882G>T uc003etn.2 + 16 2752 c.2562G>T c.(2560-2562)CGG>CGT p.R854R NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 854 Cytoplasmic (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 GTGTGTACCGGGTCCGGATCG 0.547 HNSCC(16;0.037) 130 74 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147128169 147128169 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:147128169C>T uc003ewe.2 + 1 989 c.270C>T c.(268-270)TCC>TCT p.S90S NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 90 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GCTCCTATTCCAGCGCAGCCT 0.687 8 35 --- --- --- --- PASS AGTR1 185 broad.mit.edu 37 3 148459207 148459207 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:148459207G>T uc003ewg.2 + 4 831 c.385G>T c.(385-387)GCT>TCT p.A129S AGTR1_uc003ewh.2_Missense_Mutation_p.A129S|AGTR1_uc003ewi.2_Missense_Mutation_p.A129S|AGTR1_uc003ewj.2_Missense_Mutation_p.A129S|AGTR1_uc003ewk.2_Missense_Mutation_p.A129S NM_031850 NP_114038 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 129 Cytoplasmic (Potential). calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity 0 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) TCGATACCTGGCTATTGTTCA 0.493 131 131 --- --- --- --- PASS CPB1 1360 broad.mit.edu 37 3 148552407 148552407 + Nonsense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:148552407C>G uc003ewl.2 + 3 293 c.270C>G c.(268-270)TAC>TAG p.Y90* NM_001871 NP_001862 P15086 CBPB1_HUMAN pancreatic carboxypeptidase B1 preproprotein 90 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) AACTACAATACAAGTAAGTTT 0.323 19 124 --- --- --- --- PASS P2RY14 9934 broad.mit.edu 37 3 150931184 150931184 + Nonsense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:150931184A>T uc003eyr.1 - 3 1399 c.921T>A c.(919-921)TGT>TGA p.C307* MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Nonsense_Mutation_p.C307* NM_001081455 NP_001074924 Q15391 P2Y14_HUMAN P2Y14 receptor 307 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity large_intestine(2)|ovary(1)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAATTTCTTACATAAGATTT 0.358 124 140 --- --- --- --- PASS AADACL2 344752 broad.mit.edu 37 3 151463429 151463429 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:151463429C>G uc003ezc.2 + 4 684 c.564C>G c.(562-564)GAC>GAG p.D188E AADACL2_uc010hvn.2_5'UTR NM_207365 NP_997248 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 precursor 188 extracellular region|integral to membrane carboxylesterase activity 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) TTGCGGGAGACAGTTCTGGGG 0.333 22 168 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155199359 155199359 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:155199359T>C uc011bok.1 - 23 4757 c.4480A>G c.(4480-4482)AGT>GGT p.S1494G PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.S1456G NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1494 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCCCCCAGACTTTTGGATTTG 0.443 15 96 --- --- --- --- PASS MFSD1 64747 broad.mit.edu 37 3 158519984 158519984 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:158519984G>C uc003fcl.1 + 1 73 c.43G>C c.(43-45)GGC>CGC p.G15R MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_5'UTR|MFSD1_uc011bow.1_Missense_Mutation_p.G15R|MFSD1_uc011box.1_5'UTR NM_022736 NP_073573 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 15 transmembrane transport integral to membrane 0 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) CCTGGCAGGCGGCCCTGACGA 0.692 12 3 --- --- --- --- PASS SCHIP1 29970 broad.mit.edu 37 3 158980335 158980335 + Splice_Site SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:158980335A>T uc003fcq.1 + 4 261 c.156_splice c.e4-2 p.I52_splice SCHIP1_uc003fcr.1_Splice_Site|IQCJ_uc003fco.2_Splice_Site_p.I52_splice|IQCJ_uc010hvy.1_Splice_Site_p.N25_splice|IQCJ_uc003fcp.1_Splice_Site_p.I52_splice NM_014575 NP_055390 Q9P0W5 SCHI1_HUMAN schwannomin interacting protein 1 cytoplasm identical protein binding|protein binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) TTGTTTTTTCAGCATTCAGCG 0.512 50 59 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164777795 164777795 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:164777795C>A uc003fei.2 - 10 1103 c.1041G>T c.(1039-1041)ATG>ATT p.M347I NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 347 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AATATGCTGGCATTGCTGGTA 0.363 HNSCC(35;0.089) 111 85 --- --- --- --- PASS GOLIM4 27333 broad.mit.edu 37 3 167750452 167750452 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:167750452C>A uc003ffe.2 - 9 1376 c.1032G>T c.(1030-1032)GAG>GAT p.E344D GOLIM4_uc011bpe.1_Missense_Mutation_p.E344D|GOLIM4_uc011bpf.1_Missense_Mutation_p.E316D|GOLIM4_uc011bpg.1_Missense_Mutation_p.E316D NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 344 Glu-rich.|Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 TTTCTTCCTCCTCCAGGGCCT 0.552 76 57 --- --- --- --- PASS TNIK 23043 broad.mit.edu 37 3 170802911 170802911 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:170802911G>A uc003fhh.2 - 25 3339 c.2994C>T c.(2992-2994)GCC>GCT p.A998A TNIK_uc003fhi.2_Silent_p.A943A|TNIK_uc003fhj.2_Silent_p.A969A|TNIK_uc003fhk.2_Silent_p.A990A|TNIK_uc003fhl.2_Silent_p.A914A|TNIK_uc003fhm.2_Silent_p.A935A|TNIK_uc003fhn.2_Silent_p.A961A|TNIK_uc003fho.2_Silent_p.A906A|TNIK_uc003fhg.2_Silent_p.A176A|TNIK_uc003fhp.2_5'Flank NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 998 Mediates interaction with NEDD4. 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) GCTTACCTGCGGCTGATGATT 0.483 5 25 --- --- --- --- PASS SPATA16 83893 broad.mit.edu 37 3 172835288 172835288 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:172835288C>A uc003fin.3 - 2 392 c.234G>T c.(232-234)GAG>GAT p.E78D NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 78 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) AGGCTGCTTTCTCTAAATCAT 0.368 219 125 --- --- --- --- PASS IL1RAP 3556 broad.mit.edu 37 3 190366198 190366198 + Missense_Mutation SNP G C C rs34661910 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:190366198G>C uc003fsm.1 + 12 1623 c.1417G>C c.(1417-1419)GTG>CTG p.V473L IL1RAP_uc010hzg.1_Missense_Mutation_p.V473L|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.V473L|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron NM_002182 NP_002173 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein isoform 473 Cytoplasmic (Potential).|TIR. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) CCCCAACTACGTGCTCCAGGG 0.493 176 85 --- --- --- --- PASS ZNF721 170960 broad.mit.edu 37 4 437772 437772 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:437772C>A uc003gag.2 - 3 1175 c.484G>T c.(484-486)GAG>TAG p.E162* ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Nonsense_Mutation_p.E194*|ZNF721_uc010ibe.2_Nonsense_Mutation_p.E150* NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 162 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 TAAGGTTTCTCTCCAGTATGA 0.403 39 90 --- --- --- --- PASS FGFRL1 53834 broad.mit.edu 37 4 1018425 1018425 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:1018425C>T uc003gce.2 + 6 1206 c.1045C>T c.(1045-1047)CGC>TGC p.R349C FGFRL1_uc003gcf.2_Missense_Mutation_p.R349C|FGFRL1_uc003gcg.2_Missense_Mutation_p.R349C|FGFRL1_uc010ibo.2_Missense_Mutation_p.R349C NM_021923 NP_068742 Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 349 Ig-like C2-type 3.|Extracellular (Potential). regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTACAGCTTCCGCAGCGCCTT 0.692 7 42 --- --- --- --- PASS D4S234E 27065 broad.mit.edu 37 4 4419021 4419021 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:4419021C>A uc011bvz.1 + 8 1698 c.417C>A c.(415-417)GCC>GCA p.A139A D4S234E_uc011bwa.1_Silent_p.A100A|D4S234E_uc003ghz.2_Silent_p.A139A|D4S234E_uc003gia.2_Silent_p.A139A|D4S234E_uc003gib.2_Silent_p.A139A NM_014392 NP_055207 P42857 NSG1_HUMAN brain neuron cytoplasmic protein 1 139 Lumenal (Potential). dopamine receptor signaling pathway Golgi membrane|integral to membrane|nucleus dopamine receptor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.166) ACTCCAGTGCCCGGGAGAAAT 0.547 11 120 --- --- --- --- PASS EVC2 132884 broad.mit.edu 37 4 5564592 5564592 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:5564592C>T uc003gij.2 - 22 3964 c.3910G>A c.(3910-3912)GCC>ACC p.A1304T EVC2_uc011bwb.1_Missense_Mutation_p.A744T|EVC2_uc003gik.2_Missense_Mutation_p.A1224T NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 1304 integral to membrane large_intestine(3)|ovary(2) 5 ATGCCCAAGGCCCTCATGGCC 0.483 40 85 --- --- --- --- PASS EVC 2121 broad.mit.edu 37 4 5800437 5800437 + Missense_Mutation SNP A C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:5800437A>C uc003gil.1 + 15 2406 c.2222A>C c.(2221-2223)GAG>GCG p.E741A EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 741 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) CAGCACATGGAGTGCGCCATT 0.642 4 11 --- --- --- --- PASS SH3TC1 54436 broad.mit.edu 37 4 8229084 8229084 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:8229084C>T uc003gkv.3 + 12 1764 c.1663C>T c.(1663-1665)CTC>TTC p.L555F SH3TC1_uc003gkw.3_Missense_Mutation_p.L479F|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 555 binding large_intestine(2)|pancreas(1) 3 GAAAGCTGGCCTCCTCATGGC 0.697 7 22 --- --- --- --- PASS DEFB131 644414 broad.mit.edu 37 4 9452106 9452106 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:9452106G>A uc011bwt.1 + 2 79 c.79G>A c.(79-81)GAT>AAT p.D27N NM_001040448 NP_001035538 P59861 DB131_HUMAN defensin, beta 131 precursor 27 defense response to bacterium extracellular region 0 CATTTCTAATGATGAATGTCC 0.308 4 50 --- --- --- --- PASS PROM1 8842 broad.mit.edu 37 4 15995679 15995679 + Silent SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:15995679A>G uc003goo.2 - 15 1910 c.1698T>C c.(1696-1698)AAT>AAC p.N566N PROM1_uc003gor.2_Silent_p.N566N|PROM1_uc003gos.2_Silent_p.N557N|PROM1_uc003got.2_Silent_p.N566N|PROM1_uc003gou.2_Silent_p.N557N|PROM1_uc003gop.2_Silent_p.N557N|PROM1_uc003goq.3_Silent_p.N557N NM_006017 NP_006008 O43490 PROM1_HUMAN prominin 1 isoform 1 566 Extracellular (Potential). camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1) 7 AAGTGCCTCTATTTTTTTTGC 0.423 37 73 --- --- --- --- PASS CLRN2 645104 broad.mit.edu 37 4 17528607 17528607 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:17528607G>T uc003gpg.1 + 3 703 c.601G>T c.(601-603)GCA>TCA p.A201S NM_001079827 NP_001073296 A0PK11 CLRN2_HUMAN clarin 2 201 Helical; (Potential). integral to membrane 0 GGCCCATGCTGCAAACTTGGT 0.493 25 51 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20618799 20618799 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:20618799A>T uc003gpr.1 + 35 4318 c.4114A>T c.(4114-4116)AAT>TAT p.N1372Y SLIT2_uc003gps.1_Missense_Mutation_p.N1364Y NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1372 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 CCAACGGACCAATGACCCTTG 0.552 22 61 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20620619 20620619 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:20620619G>C uc003gpr.1 + 37 4781 c.4577G>C c.(4576-4578)AGG>ACG p.R1526T SLIT2_uc003gps.1_Missense_Mutation_p.R1518T NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1526 CTCK. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 GGCTGTACGAGGTGTGTGTCC 0.498 27 63 --- --- --- --- PASS PDS5A 23244 broad.mit.edu 37 4 39868592 39868592 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:39868592C>A uc003guv.3 - 23 3071 c.2531G>T c.(2530-2532)AGG>ATG p.R844M PDS5A_uc010ifo.2_Missense_Mutation_p.R804M NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 844 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 CAACAGCCACCTTACCAGAAG 0.343 7 24 --- --- --- --- PASS N4BP2 55728 broad.mit.edu 37 4 40121773 40121773 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:40121773C>A uc003guy.3 + 9 2380 c.2042C>A c.(2041-2043)CCA>CAA p.P681Q N4BP2_uc010ifq.2_Missense_Mutation_p.P601Q|N4BP2_uc010ifr.2_Missense_Mutation_p.P601Q NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 681 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 CTGGAAACTCCACACATGTAT 0.338 40 96 --- --- --- --- PASS RHOH 399 broad.mit.edu 37 4 40245257 40245257 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:40245257C>A uc003guz.2 + 3 975 c.251C>A c.(250-252)TCT>TAT p.S84Y NM_004310 NP_004301 Q15669 RHOH_HUMAN ras homolog gene family, member H precursor 84 Interaction with ZAP70 (By similarity). negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding ovary(1)|lung(1) 2 ATGTGCTACTCTGTGGCCAAC 0.567 11 38 --- --- --- --- PASS KCTD8 386617 broad.mit.edu 37 4 44450284 44450284 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:44450284C>A uc003gwu.2 - 1 541 c.257G>T c.(256-258)CGG>CTG p.R86L NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 86 BTB. cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 CAGCTcgccccggcgccgggc 0.537 HNSCC(17;0.042) 5 10 --- --- --- --- PASS YIPF7 285525 broad.mit.edu 37 4 44626800 44626800 + Splice_Site SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:44626800C>A uc010ifx.1 - 5 516 c.499_splice c.e5-1 p.A167_splice NM_182592 NP_872398 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 endoplasmic reticulum membrane|integral to membrane 0 CTTTTCCTGCCTGAAACGACG 0.453 6 15 --- --- --- --- PASS PDGFRA 5156 broad.mit.edu 37 4 54248489 54248489 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:54248489G>T uc003haa.2 + 4 401 c.215G>T c.(214-216)GGT>GTT p.G72V FIP1L1_uc003gzx.3_Missense_Mutation_p.G57V|FIP1L1_uc011bzt.1_Missense_Mutation_p.G72V|FIP1L1_uc003gzy.2_Missense_Mutation_p.G72V|FIP1L1_uc011bzu.1_Missense_Mutation_p.G57V|FIP1L1_uc003gzz.2_Missense_Mutation_p.G57V|FIP1L1_uc003hab.2_Missense_Mutation_p.G60V|FIP1L1_uc003hac.2_5'UTR NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 1053 Ser-rich.|Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GCTGAAAATGGTGTACCAAAA 0.358 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 30 56 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55974023 55974023 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:55974023A>T uc003has.2 - 10 1595 c.1293T>A c.(1291-1293)CCT>CCA p.P431P KDR_uc003hat.1_Silent_p.P431P|KDR_uc011bzx.1_Silent_p.P431P NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 431 Ig-like C2-type 5.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AGGAATCCACAGGAGAGATTA 0.473 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 7 125 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62845285 62845285 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:62845285G>T uc010ihh.2 + 15 2779 c.2606G>T c.(2605-2607)AGT>ATT p.S869I LPHN3_uc003hcq.3_Missense_Mutation_p.S869I|LPHN3_uc003hct.2_Missense_Mutation_p.S262I NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 856 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TTCCAGCACAGTGATGCGGTC 0.408 16 245 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66213856 66213856 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:66213856G>T uc003hcy.2 - 15 2767 c.2574C>A c.(2572-2574)GCC>GCA p.A858A EPHA5_uc003hcx.2_Silent_p.A790A|EPHA5_uc003hcz.2_Silent_p.A836A|EPHA5_uc011cah.1_Silent_p.A859A|EPHA5_uc011cai.1_Silent_p.A837A|EPHA5_uc003hda.2_Silent_p.A859A NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 858 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 AGACATCACTGGCAGAAGTAA 0.398 TSP Lung(17;0.13) 38 77 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66270123 66270123 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:66270123C>A uc003hcy.2 - 8 1952 c.1759G>T c.(1759-1761)GCA>TCA p.A587S EPHA5_uc003hcx.2_Missense_Mutation_p.A519S|EPHA5_uc003hcz.2_Missense_Mutation_p.A587S|EPHA5_uc011cah.1_Missense_Mutation_p.A588S|EPHA5_uc011cai.1_Missense_Mutation_p.A588S|EPHA5_uc003hda.2_Missense_Mutation_p.A588S NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 587 Helical; (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 ATAACCACTGCCAACAAAATG 0.483 TSP Lung(17;0.13) 10 42 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66270124 66270124 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:66270124C>A uc003hcy.2 - 8 1951 c.1758G>T c.(1756-1758)TTG>TTT p.L586F EPHA5_uc003hcx.2_Missense_Mutation_p.L518F|EPHA5_uc003hcz.2_Missense_Mutation_p.L586F|EPHA5_uc011cah.1_Missense_Mutation_p.L587F|EPHA5_uc011cai.1_Missense_Mutation_p.L587F|EPHA5_uc003hda.2_Missense_Mutation_p.L587F NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 586 Helical; (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TAACCACTGCCAACAAAATGA 0.478 TSP Lung(17;0.13) 10 41 --- --- --- --- PASS UGT2B11 10720 broad.mit.edu 37 4 70079792 70079792 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:70079792C>G uc003heh.2 - 1 658 c.649G>C c.(649-651)GTG>CTG p.V217L uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 217 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 AAATAAAGCACATAGATCATA 0.343 13 57 --- --- --- --- PASS NPFFR2 10886 broad.mit.edu 37 4 72897664 72897664 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:72897664G>A uc003hgg.2 + 1 144 c.46G>A c.(46-48)GAA>AAA p.E16K NPFFR2_uc010iig.1_5'UTR NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 16 Extracellular (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) GTGCCTCCTGGAAAGTGACGT 0.632 16 32 --- --- --- --- PASS ANKRD17 26057 broad.mit.edu 37 4 74010501 74010501 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:74010501C>G uc003hgp.2 - 11 2035 c.1918G>C c.(1918-1920)GCT>CCT p.A640P ANKRD17_uc003hgo.2_Missense_Mutation_p.A527P|ANKRD17_uc003hgq.2_Missense_Mutation_p.A640P|ANKRD17_uc003hgr.2_Missense_Mutation_p.A640P|ANKRD17_uc011cbd.1_Missense_Mutation_p.A205P NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 640 ANK 13. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACATGACCAGCTCTTGCAGCT 0.333 7 48 --- --- --- --- PASS AFP 174 broad.mit.edu 37 4 74310718 74310718 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:74310718C>A uc003hgz.1 + 7 769 c.722C>A c.(721-723)ACT>AAT p.T241N AFP_uc003hha.1_Missense_Mutation_p.T241N|AFP_uc011cbg.1_Missense_Mutation_p.T15N NM_001134 NP_001125 P02771 FETA_HUMAN alpha-fetoprotein precursor 241 Albumin 2. transport metal ion binding ovary(1) 1 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGAACTGTTACTAAACTGAGT 0.323 Alpha-Fetoprotein_Hereditary_Persistence_of 5 49 --- --- --- --- PASS RASSF6 166824 broad.mit.edu 37 4 74447946 74447946 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:74447946C>T uc003hhd.1 - 7 848 c.725G>A c.(724-726)AGA>AAA p.R242K RASSF6_uc003hhc.1_Missense_Mutation_p.R210K|RASSF6_uc010iik.1_Intron|RASSF6_uc010iil.1_Missense_Mutation_p.R198K NM_201431 NP_958834 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family 6 242 Ras-associating. apoptosis|signal transduction protein binding pancreas(2) 2 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TTCTTCAGTTCTCATGTTACT 0.269 3 38 --- --- --- --- PASS PPEF2 5470 broad.mit.edu 37 4 76794303 76794303 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:76794303A>T uc003hix.2 - 12 1840 c.1483T>A c.(1483-1485)TAT>AAT p.Y495N PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.Y495N NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 495 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CAGAATTCATAGCCTTCAGGT 0.488 24 47 --- --- --- --- PASS FRAS1 80144 broad.mit.edu 37 4 79393426 79393426 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:79393426G>T uc003hlb.2 + 52 7904 c.7464G>T c.(7462-7464)AAG>AAT p.K2488N NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2487 CSPG 12.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CGGGCCCTAAGCATGGCTTTG 0.537 10 35 --- --- --- --- PASS FGF5 2250 broad.mit.edu 37 4 81207575 81207575 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:81207575C>A uc003hmd.2 + 3 793 c.556C>A c.(556-558)CGG>AGG p.R186R FGF5_uc003hme.2_3'UTR NM_004464 NP_004455 P12034 FGF5_HUMAN fibroblast growth factor 5 isoform 1 precursor 186 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity ovary(1)|breast(1) 2 AAAAACAGGGCGGGAGTGGTA 0.458 47 118 --- --- --- --- PASS BMP3 651 broad.mit.edu 37 4 81967120 81967120 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:81967120A>G uc003hmg.3 + 2 865 c.545A>G c.(544-546)CAT>CGT p.H182R NM_001201 NP_001192 P12645 BMP3_HUMAN bone morphogenetic protein 3 preproprotein 182 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(4)|central_nervous_system(1) 5 CTCCTTGGCCATCTGTCAGTG 0.438 10 174 --- --- --- --- PASS ENOPH1 58478 broad.mit.edu 37 4 83375922 83375922 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:83375922G>T uc003hmv.2 + 4 694 c.437G>T c.(436-438)GGA>GTA p.G146V ENOPH1_uc003hmw.2_Missense_Mutation_p.G58V|ENOPH1_uc003hmx.2_5'UTR NM_021204 NP_067027 Q9UHY7 ENOPH_HUMAN enolase-phosphatase 1 146 L-methionine salvage from methylthioadenosine cytoplasm|nucleus 2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity 0 AGAGAGGCCGGAATGAAGGTG 0.463 40 97 --- --- --- --- PASS WDFY3 23001 broad.mit.edu 37 4 85722993 85722993 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:85722993C>A uc003hpd.2 - 17 3040 c.2632G>T c.(2632-2634)GTG>TTG p.V878L NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 878 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ATATTTGCCACGGCAAGTTGA 0.438 3 39 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94006212 94006212 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:94006212C>A uc011cdt.1 + 3 569 c.311C>A c.(310-312)TCC>TAC p.S104Y GRID2_uc010ikx.2_Missense_Mutation_p.S104Y|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 104 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TCAGCAGGATCCCTCCAGTCT 0.537 20 67 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94693642 94693642 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:94693642C>A uc011cdt.1 + 16 3275 c.3017C>A c.(3016-3018)TCC>TAC p.S1006Y GRID2_uc011cdu.1_Missense_Mutation_p.S911Y NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 1006 PDZ-binding (By similarity).|Cytoplasmic (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CGAGGCACCTCCATATGAGCA 0.418 18 51 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94693643 94693643 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:94693643C>A uc011cdt.1 + 16 3276 c.3018C>A c.(3016-3018)TCC>TCA p.S1006S GRID2_uc011cdu.1_Silent_p.S911S NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 1006 PDZ-binding (By similarity).|Cytoplasmic (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GAGGCACCTCCATATGAGCAT 0.413 18 50 --- --- --- --- PASS ADH1A 124 broad.mit.edu 37 4 100205627 100205627 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:100205627G>T uc003hur.1 - 5 567 c.496C>A c.(496-498)CCT>ACT p.P166T uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.P166T|ADH1A_uc010ilf.1_5'UTR NM_000667 NP_000658 P07327 ADH1A_HUMAN class I alcohol dehydrogenase, alpha subunit 166 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) TTCTCTAGAGGCGAGGCTGCA 0.478 6 54 --- --- --- --- PASS C4orf17 84103 broad.mit.edu 37 4 100443678 100443678 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:100443678G>T uc003huw.2 + 3 472 c.149G>T c.(148-150)TGT>TTT p.C50F C4orf17_uc003hux.2_RNA NM_032149 NP_115525 Q53FE4 CD017_HUMAN hypothetical protein LOC84103 50 0 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) ATTCCAATCTGTACTGTGAAT 0.373 26 43 --- --- --- --- PASS MTTP 4547 broad.mit.edu 37 4 100518257 100518257 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:100518257C>T uc003hvc.3 + 9 1199 c.943C>T c.(943-945)CTG>TTG p.L315L MTTP_uc011cej.1_Silent_p.L342L NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 315 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CAGGAAATACCTGCAGCCTGA 0.498 49 106 --- --- --- --- PASS CENPE 1062 broad.mit.edu 37 4 104064497 104064497 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:104064497C>G uc003hxb.1 - 34 5302 c.5212G>C c.(5212-5214)GAT>CAT p.D1738H CENPE_uc003hxc.1_Missense_Mutation_p.D1713H|CENPE_uc003hxd.1_5'Flank NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 1738 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) CTTAGTTTATCAATAGTTTCT 0.303 50 89 --- --- --- --- PASS AGXT2L1 64850 broad.mit.edu 37 4 109670424 109670424 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:109670424G>C uc003hzc.2 - 8 1078 c.897C>G c.(895-897)TTC>TTG p.F299L AGXT2L1_uc010imc.2_Missense_Mutation_p.F293L|AGXT2L1_uc011cfm.1_Missense_Mutation_p.F259L|AGXT2L1_uc011cfn.1_Missense_Mutation_p.F226L|AGXT2L1_uc011cfo.1_Missense_Mutation_p.F241L NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN alanine-glyoxylate aminotransferase 2-like 1 299 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000281) CAGAGCTGCTGAAGGCTTCTG 0.418 9 66 --- --- --- --- PASS COL25A1 84570 broad.mit.edu 37 4 110221759 110221759 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:110221759G>T uc003hze.1 - 3 878 c.347C>A c.(346-348)TCA>TAA p.S116* COL25A1_uc003hzg.2_Nonsense_Mutation_p.S116*|COL25A1_uc003hzh.1_Nonsense_Mutation_p.S116* NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 116 Extracellular (Potential). collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GTTACATTCTGAAGGTGCTTC 0.383 26 55 --- --- --- --- PASS SEC24B 10427 broad.mit.edu 37 4 110402874 110402874 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:110402874G>T uc003hzk.2 + 4 1157 c.1102G>T c.(1102-1104)GCA>TCA p.A368S SEC24B_uc003hzl.2_Intron|SEC24B_uc011cfp.1_Missense_Mutation_p.A399S|SEC24B_uc011cfq.1_Missense_Mutation_p.A368S|SEC24B_uc011cfr.1_Intron NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 368 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) AGCTAGCTCCGCACCAACTCC 0.358 19 143 --- --- --- --- PASS ENPEP 2028 broad.mit.edu 37 4 111397698 111397698 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:111397698G>T uc003iab.3 + 1 470 c.128G>T c.(127-129)TGT>TTT p.C43F NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 43 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) ACCAGATCGTGTGACTCCAGC 0.612 14 115 --- --- --- --- PASS NEUROG2 63973 broad.mit.edu 37 4 113436086 113436086 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:113436086C>A uc003ias.2 - 2 873 c.546G>T c.(544-546)CCG>CCT p.P182P NM_024019 NP_076924 Q9H2A3 NGN2_HUMAN neurogenin 2 182 positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent nucleus E-box binding skin(2)|central_nervous_system(1) 3 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00168) AGAgcgcccccggcaggcccc 0.557 3 3 --- --- --- --- PASS METTL14 57721 broad.mit.edu 37 4 119609096 119609096 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:119609096G>T uc003icf.2 + 2 201 c.85G>T c.(85-87)GAC>TAC p.D29Y METTL14_uc003icg.2_5'UTR NM_020961 NP_066012 Q9HCE5 MTL14_HUMAN methyltransferase like 14 29 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity 0 TGAAAGTGCCGACAGCATTGG 0.368 11 44 --- --- --- --- PASS ANKRD50 57182 broad.mit.edu 37 4 125592529 125592529 + Missense_Mutation SNP C G G rs148381297 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:125592529C>G uc003ifg.3 - 3 2169 c.1903G>C c.(1903-1905)GTA>CTA p.V635L ANKRD50_uc011cgo.1_Missense_Mutation_p.V456L|ANKRD50_uc010inw.2_Missense_Mutation_p.V635L NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 635 ANK 5. central_nervous_system(1) 1 TCCACTTTTACGCCAGCATAA 0.458 13 104 --- --- --- --- PASS LARP1B 55132 broad.mit.edu 37 4 129127647 129127647 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:129127647A>G uc003iga.2 + 18 2505 c.2374A>G c.(2374-2376)ATT>GTT p.I792V LARP1B_uc003igc.2_Missense_Mutation_p.I211V|LARP1B_uc010ioa.1_RNA|LARP1B_uc003ige.2_Intron|LARP1B_uc003igd.2_RNA|LARP1B_uc003igf.2_Intron NM_018078 NP_060548 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family member 2 792 RNA binding 0 CAGGCGAGAAATTTTTCAGGA 0.303 10 73 --- --- --- --- PASS INPP4B 8821 broad.mit.edu 37 4 143029265 143029265 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:143029265C>A uc003iix.3 - 24 2950 c.2355G>T c.(2353-2355)ATG>ATT p.M785I INPP4B_uc003iiw.3_Missense_Mutation_p.M785I|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.M600I|INPP4B_uc011cho.1_RNA NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 785 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) GCATCTTTTCCATAAATATCT 0.328 7 48 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155158210 155158210 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:155158210G>T uc003inw.2 - 25 6229 c.6229C>A c.(6229-6231)CTT>ATT p.L2077I NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2077 Cadherin 18. 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) ACTAAAGTAAGAGCTCTCAGG 0.393 29 67 --- --- --- --- PASS FGA 2243 broad.mit.edu 37 4 155507006 155507006 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:155507006A>T uc003iod.1 - 5 1633 c.1575T>A c.(1573-1575)ACT>ACA p.T525T FGA_uc003ioe.1_Silent_p.T525T|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 525 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) ATGTTTTTCCAGTTGAGGCAG 0.488 3 78 --- --- --- --- PASS VEGFC 7424 broad.mit.edu 37 4 177650717 177650717 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr4:177650717C>T uc003ius.1 - 2 761 c.331G>A c.(331-333)GCA>ACA p.A111T NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 111 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TAATGTGCTGCAGCAAATTTT 0.383 22 56 --- --- --- --- PASS AHRR 57491 broad.mit.edu 37 5 344045 344045 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:344045G>T uc003jav.2 + 2 84 c.40G>T c.(40-42)GCG>TCG p.A14S AHRR_uc003jaw.2_Missense_Mutation_p.A10S|AHRR_uc010isy.2_5'UTR|AHRR_uc010isz.2_Missense_Mutation_p.A10S NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN arylhydrocarbon receptor repressor 14 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) GTGCACGTACGCGGGCCGGAA 0.662 16 22 --- --- --- --- PASS SLC6A19 340024 broad.mit.edu 37 5 1201812 1201812 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:1201812C>T uc003jbw.3 + 1 103 c.47C>T c.(46-48)CCG>CTG p.P16L NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 16 Cytoplasmic (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GCCCGGATCCCGTCCCTGGCT 0.677 7 32 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5242188 5242188 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:5242188C>A uc003jdl.2 + 17 2684 c.2546C>A c.(2545-2547)CCG>CAG p.P849Q ADAMTS16_uc003jdk.1_Missense_Mutation_p.P849Q NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 849 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GGAAGGAACCCGGGTGTTGCC 0.512 33 101 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7707951 7707951 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:7707951G>T uc003jdz.1 + 9 1468 c.1401G>T c.(1399-1401)AAG>AAT p.K467N ADCY2_uc011cmo.1_Missense_Mutation_p.K287N NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 467 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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TCAACCCCAAGGTCAGTATCA 0.373 50 93 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7709399 7709399 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:7709399C>A uc003jdz.1 + 10 1544 c.1477C>A c.(1477-1479)CGC>AGC p.R493S ADCY2_uc011cmo.1_Missense_Mutation_p.R313S NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 493 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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GGCCTCGGTCCGCATGACCCG 0.587 26 79 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7773087 7773087 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:7773087G>T uc003jdz.1 + 18 2324 c.2257G>T c.(2257-2259)GTG>TTG p.V753L ADCY2_uc011cmo.1_Missense_Mutation_p.V573L NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 753 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 ATCCTGTTCCGTGTTCCTGCG 0.493 137 231 --- --- --- --- PASS MTRR 4552 broad.mit.edu 37 5 7870910 7870910 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:7870910G>T uc003jed.2 + 2 114 c.84G>T c.(82-84)ATG>ATT p.M28I FASTKD3_uc011cmp.1_5'Flank|FASTKD3_uc003jeb.2_5'Flank|FASTKD3_uc003jec.2_5'Flank|MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.M1I|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 28 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) TTGAAGTGATGAGGAGGTTTC 0.403 35 90 --- --- --- --- PASS SEMA5A 9037 broad.mit.edu 37 5 9052120 9052120 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:9052120C>A uc003jek.2 - 20 3422 c.2710G>T c.(2710-2712)GAC>TAC p.D904Y NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 904 Extracellular (Potential).|TSP type-1 7. cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TCAGACCAGTCCGACCACTCC 0.592 17 40 --- --- --- --- PASS SEMA5A 9037 broad.mit.edu 37 5 9063065 9063065 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:9063065A>G uc003jek.2 - 18 3164 c.2452T>C c.(2452-2454)TAT>CAT p.Y818H NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 818 TSP type-1 5.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 ATTCCCCCATACTTGGGTTCG 0.552 34 91 --- --- --- --- PASS SEMA5A 9037 broad.mit.edu 37 5 9237981 9237981 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:9237981C>A uc003jek.2 - 6 1004 c.292G>T c.(292-294)GAA>TAA p.E98* NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 98 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TTGGTAGCTTCATCACACTCC 0.393 34 134 --- --- --- --- PASS MARCH6 10299 broad.mit.edu 37 5 10405729 10405729 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:10405729A>T uc003jet.1 + 16 1575 c.1392A>T c.(1390-1392)CCA>CCT p.P464P MARCH6_uc011cmu.1_Silent_p.P416P|MARCH6_uc003jeu.1_Silent_p.P162P|MARCH6_uc011cmv.1_Silent_p.P359P NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 464 Cytoplasmic (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 ATTTCAATCCAGTACAGGAAA 0.323 58 122 --- --- --- --- PASS ROPN1L 83853 broad.mit.edu 37 5 10464985 10464985 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:10464985G>T uc003jex.3 + 5 890 c.619G>T c.(619-621)GGT>TGT p.G207C NM_031916 NP_114122 Q96C74 ROP1L_HUMAN ropporin 1-like 207 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding ovary(1) 1 CGGCATGATAGGTCTTTCAGA 0.313 43 137 --- --- --- --- PASS ROPN1L 83853 broad.mit.edu 37 5 10464986 10464986 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:10464986G>T uc003jex.3 + 5 891 c.620G>T c.(619-621)GGT>GTT p.G207V NM_031916 NP_114122 Q96C74 ROP1L_HUMAN ropporin 1-like 207 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding ovary(1) 1 GGCATGATAGGTCTTTCAGAT 0.313 40 138 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13770872 13770872 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:13770872C>A uc003jfd.2 - 56 9633 c.9591G>T c.(9589-9591)CGG>CGT p.R3197R DNAH5_uc003jfc.2_5'Flank NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3197 Stalk (By similarity).|Potential. microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R3197W(1)|p.R3197Q(1) ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TGGCCAGGGTCCGCACCTCCA 0.338 Kartagener_syndrome 38 51 --- --- --- --- PASS FBXL7 23194 broad.mit.edu 37 5 15928149 15928149 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:15928149C>A uc003jfn.1 + 3 759 c.278C>A c.(277-279)CCG>CAG p.P93Q NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 93 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 TCCCCGCCCCCGACCCGCCTC 0.652 11 29 --- --- --- --- PASS MARCH11 441061 broad.mit.edu 37 5 16067764 16067764 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:16067764C>G uc003jfo.2 - 4 1238 c.1025G>C c.(1024-1026)AGG>ACG p.R342T MARCH11_uc010itw.1_Missense_Mutation_p.R98T NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 342 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding 0 CCACAAAGTCCTACTTGTGGA 0.478 23 117 --- --- --- --- PASS ZNF622 90441 broad.mit.edu 37 5 16465451 16465451 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:16465451C>A uc003jfq.2 - 1 444 c.324G>T c.(322-324)ATG>ATT p.M108I NM_033414 NP_219482 Q969S3 ZN622_HUMAN zinc finger protein 622 108 cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 TTTCATTCATCATCTCCACTT 0.557 94 176 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19571932 19571932 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:19571932A>T uc003jgc.2 - 7 1386 c.1009T>A c.(1009-1011)TAT>AAT p.Y337N CDH18_uc003jgd.2_Missense_Mutation_p.Y337N|CDH18_uc011cnm.1_Missense_Mutation_p.Y337N NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 337 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TTTTTCTCATAGTTCAGTGGC 0.303 28 102 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19721511 19721511 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:19721511C>A uc003jgc.2 - 4 965 c.588G>T c.(586-588)CGG>CGT p.R196R CDH18_uc003jgd.2_Silent_p.R196R|CDH18_uc011cnm.1_Silent_p.R196R NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 196 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TGTAAACCACCCGAGCGCTGT 0.463 53 162 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19721517 19721517 + Missense_Mutation SNP G T T rs147239335 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:19721517G>T uc003jgc.2 - 4 959 c.582C>A c.(580-582)AGC>AGA p.S194R CDH18_uc003jgd.2_Missense_Mutation_p.S194R|CDH18_uc011cnm.1_Missense_Mutation_p.S194R NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 194 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) CCACCCGAGCGCTGTTTCCAT 0.463 32 183 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 22078722 22078722 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:22078722G>C uc010iuc.2 - 2 522 c.64C>G c.(64-66)CCA>GCA p.P22A CDH12_uc011cno.1_Missense_Mutation_p.P22A|CDH12_uc003jgk.2_Missense_Mutation_p.P22A NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 22 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 GGTTGTAGTGGTGTTAGGAGA 0.458 HNSCC(59;0.17) 66 206 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23509607 23509607 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:23509607T>A uc003jgo.2 + 3 280 c.98T>A c.(97-99)ATA>AAA p.I33K NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 33 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GACATTTCCATATACTTCACC 0.413 HNSCC(3;0.000094) 106 253 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23522877 23522877 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:23522877G>T uc003jgo.2 + 8 947 c.765G>T c.(763-765)CAG>CAT p.Q255H NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 255 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GCATCCCTCAGGCTGGGCTTG 0.567 HNSCC(3;0.000094) 16 96 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23526523 23526523 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:23526523A>T uc003jgo.2 + 11 1508 c.1326A>T c.(1324-1326)CCA>CCT p.P442P NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 442 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AGCAATATCCAGATCCACACA 0.478 HNSCC(3;0.000094) 28 71 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32010568 32010568 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:32010568A>T uc003jhl.2 + 6 1775 c.1387A>T c.(1387-1389)AGC>TGC p.S463C PDZD2_uc003jhm.2_Missense_Mutation_p.S463C|PDZD2_uc011cnx.1_Missense_Mutation_p.S289C NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 463 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CGAAGGAACCAGCTCTTCTGT 0.512 33 77 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32010569 32010569 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:32010569G>A uc003jhl.2 + 6 1776 c.1388G>A c.(1387-1389)AGC>AAC p.S463N PDZD2_uc003jhm.2_Missense_Mutation_p.S463N|PDZD2_uc011cnx.1_Missense_Mutation_p.S289N NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 463 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GAAGGAACCAGCTCTTCTGTC 0.517 32 77 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32088501 32088501 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:32088501C>T uc003jhl.2 + 20 5335 c.4947C>T c.(4945-4947)GCC>GCT p.A1649A PDZD2_uc003jhm.2_Silent_p.A1649A NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1649 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GTGAGAAGGCCGCCTGCTTGC 0.547 7 199 --- --- --- --- PASS NPR3 4883 broad.mit.edu 37 5 32774923 32774923 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:32774923A>G uc003jhv.2 + 4 1387 c.1169A>G c.(1168-1170)CAG>CGG p.Q390R NPR3_uc010iuo.2_Missense_Mutation_p.Q174R|NPR3_uc011cnz.1_Missense_Mutation_p.Q174R|NPR3_uc003jhu.2_Missense_Mutation_p.Q390R NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 390 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) AAAATTATACAGCAGACTTGG 0.438 72 154 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33624406 33624406 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:33624406G>A uc003jia.1 - 14 2236 c.2073C>T c.(2071-2073)TGC>TGT p.C691C ADAMTS12_uc010iuq.1_Intron NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 691 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GGCACACACCGCAGCGATCCT 0.507 HNSCC(64;0.19) 34 85 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33649685 33649685 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:33649685G>A uc003jia.1 - 8 1471 c.1308C>T c.(1306-1308)AGC>AGT p.S436S ADAMTS12_uc010iuq.1_Silent_p.S436S NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 436 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TGTACTCCTCGCTGCACTTGG 0.517 HNSCC(64;0.19) 58 101 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33881520 33881520 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:33881520G>T uc003jia.1 - 2 356 c.193C>A c.(193-195)CAT>AAT p.H65N ADAMTS12_uc010iuq.1_Missense_Mutation_p.H65N|ADAMTS12_uc003jib.1_Missense_Mutation_p.H65N NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 65 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GACAAAAAATGCCCACTGGCA 0.488 HNSCC(64;0.19) 86 172 --- --- --- --- PASS SPEF2 79925 broad.mit.edu 37 5 35692818 35692818 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:35692818G>A uc003jjo.2 + 12 2002 c.1891G>A c.(1891-1893)GAA>AAA p.E631K SPEF2_uc003jjq.3_Missense_Mutation_p.E631K|SPEF2_uc003jjp.1_Missense_Mutation_p.E122K NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 631 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) GGAGATTAAAGAAAGCCAGGC 0.388 26 146 --- --- --- --- PASS IL7R 3575 broad.mit.edu 37 5 35871231 35871231 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:35871231T>A uc003jjs.2 + 4 542 c.453T>A c.(451-453)AAT>AAA p.N151K IL7R_uc011coo.1_Missense_Mutation_p.N151K|IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 151 Extracellular (Potential).|Fibronectin type-III. immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TGACATTTAATACATCACACT 0.383 45 92 --- --- --- --- PASS GDNF 2668 broad.mit.edu 37 5 37815898 37815898 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:37815898G>A uc011cpi.1 - 3 691 c.491C>T c.(490-492)TCC>TTC p.S164F GDNF_uc011cpc.1_Missense_Mutation_p.S86F|GDNF_uc011cpd.1_Missense_Mutation_p.S112F|GDNF_uc011cpe.1_Missense_Mutation_p.S138F|GDNF_uc011cpf.1_Missense_Mutation_p.S138F|GDNF_uc011cpg.1_Missense_Mutation_p.S181F|GDNF_uc011cph.1_Missense_Mutation_p.S155F NM_000514 NP_000505 P39905 GDNF_HUMAN glial cell derived neurotrophic factor isoform 1 164 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity 0 all_lung(31;0.00118) TCTATTTCTGGATAAGTTTTT 0.453 82 170 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41019108 41019108 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:41019108A>T uc003jmj.3 - 25 2944 c.2454T>A c.(2452-2454)CCT>CCA p.P818P HEATR7B2_uc003jmi.3_Silent_p.P373P NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 818 HEAT 9. binding ovary(6)|central_nervous_system(2) 8 GTGAGAGCTGAGGTTTCAGTT 0.458 6 66 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41160347 41160347 + Silent SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:41160347A>G uc003jmk.2 - 11 1791 c.1581T>C c.(1579-1581)CCT>CCC p.P527P C6_uc003jml.1_Silent_p.P527P NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 527 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GGCCATTATTAGGGCATGGAG 0.483 90 185 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41160349 41160349 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:41160349G>T uc003jmk.2 - 11 1789 c.1579C>A c.(1579-1581)CCT>ACT p.P527T C6_uc003jml.1_Missense_Mutation_p.P527T NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 527 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CCATTATTAGGGCATGGAGCA 0.493 87 184 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41186221 41186221 + Missense_Mutation SNP G T T rs61734261 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:41186221G>T uc003jmk.2 - 6 887 c.677C>A c.(676-678)ACA>AAA p.T226K C6_uc003jml.1_Missense_Mutation_p.T226K NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 226 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGGATTACTTGTCCTACTGCT 0.448 59 84 --- --- --- --- PASS SEPP1 6414 broad.mit.edu 37 5 42808330 42808330 + RNA SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:42808330C>A uc011cps.1 - 3 c.314G>T SEPP1_uc011cpt.1_RNA|SEPP1_uc011cpu.1_RNA|SEPP1_uc011cpv.1_RNA|SEPP1_uc003jna.2_RNA P49908 SEPP1_HUMAN Homo sapiens cDNA FLJ37321 fis, clone BRAMY2018122. response to oxidative stress extracellular region selenium binding 0 TGGAGTTTAGCATTGGATCTT 0.498 16 125 --- --- --- --- PASS NNT 23530 broad.mit.edu 37 5 43675646 43675646 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:43675646G>T uc003joe.2 + 18 2923 c.2668G>T c.(2668-2670)GGA>TGA p.G890* NNT_uc003jof.2_Nonsense_Mutation_p.G890* NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 890 Mitochondrial matrix. tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) TGTGATTCTTGGAGGCTATGG 0.413 35 132 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262788 45262788 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:45262788G>T uc003jok.2 - 8 1933 c.1908C>A c.(1906-1908)ATC>ATA p.I636I NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 636 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TGATGGGAGCGATTGCCTGCA 0.478 59 166 --- --- --- --- PASS ITGA1 3672 broad.mit.edu 37 5 52235523 52235523 + Splice_Site SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:52235523T>C uc003jou.2 + 25 3232 c.3180_splice c.e25+2 p.L1060_splice ITGA1_uc003jov.2_Splice_Site|ITGA1_uc003jow.2_Splice_Site_p.L591_splice NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) ACAATTCTGGTAAATTAAGAC 0.328 39 36 --- --- --- --- PASS GPX8 493869 broad.mit.edu 37 5 54456978 54456978 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:54456978G>C uc003jpq.2 + 2 398 c.361G>C c.(361-363)GAA>CAA p.E121Q CDC20B_uc003jpn.1_Intron|CDC20B_uc010ivu.1_Intron|CDC20B_uc003jpo.1_Intron|CDC20B_uc010ivv.1_Intron|CDC20B_uc003jpp.2_Intron|GPX8_uc003jpr.2_Intron|GPX8_uc003jps.2_RNA|GPX8_uc003jpt.2_Missense_Mutation_p.E70Q NM_001008397 NP_001008398 Q8TED1 GPX8_HUMAN glutathione peroxidase 8 121 response to oxidative stress integral to membrane glutathione peroxidase activity 0 Glutathione(DB00143) CCCAAGCAAGGAAGTAGAATC 0.453 48 47 --- --- --- --- PASS ACTBL2 345651 broad.mit.edu 37 5 56777566 56777566 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:56777566G>T uc003jrm.2 - 1 1071 c.969C>A c.(967-969)CCC>CCA p.P323P NM_001017992 NP_001017992 Q562R1 ACTBL_HUMAN actin, beta-like 2 323 cytoplasm|cytoskeleton ATP binding ovary(3) 3 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) TCATGGTGCTGGGTGCCAGGG 0.512 64 60 --- --- --- --- PASS ACTBL2 345651 broad.mit.edu 37 5 56778020 56778020 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:56778020A>T uc003jrm.2 - 1 617 c.515T>A c.(514-516)CTG>CAG p.L172Q NM_001017992 NP_001017992 Q562R1 ACTBL_HUMAN actin, beta-like 2 172 cytoplasm|cytoskeleton ATP binding ovary(3) 3 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) GGCATGAGGCAGGGCATAACC 0.547 48 55 --- --- --- --- PASS HTR1A 3350 broad.mit.edu 37 5 63256357 63256357 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:63256357G>T uc011cqt.1 - 1 1190 c.1190C>A c.(1189-1191)CCC>CAC p.P397H NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 397 Helical; Name=7; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GTAAATGACGGGGTTAAGCAG 0.517 143 173 --- --- --- --- PASS HTR1A 3350 broad.mit.edu 37 5 63256358 63256358 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:63256358G>T uc011cqt.1 - 1 1189 c.1189C>A c.(1189-1191)CCC>ACC p.P397T NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 397 Helical; Name=7; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TAAATGACGGGGTTAAGCAGA 0.522 141 175 --- --- --- --- PASS NAIP 4671 broad.mit.edu 37 5 70308644 70308644 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:70308644C>A uc003kar.1 - 4 817 c.99G>T c.(97-99)CAG>CAT p.Q33H NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.Q33H|NAIP_uc003kas.1_Intron NM_004536 NP_004527 Q13075 BIRC1_HUMAN NLR family, apoptosis inhibitory protein isoform 33 anti-apoptosis|apoptosis|nervous system development basolateral plasma membrane|cytoplasm caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(1) 1 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) CCTTTGCCAACTGAACTGCAT 0.478 85 184 --- --- --- --- PASS ZNF366 167465 broad.mit.edu 37 5 71752345 71752345 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:71752345G>T uc003kce.1 - 3 1596 c.1410C>A c.(1408-1410)ATC>ATA p.I470I NM_152625 NP_689838 Q8N895 ZN366_HUMAN zinc finger protein 366 470 C2H2-type 8. 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) TGTTGGTGTGGATCAGCACGT 0.557 104 106 --- --- --- --- PASS RGNEF 64283 broad.mit.edu 37 5 73136487 73136487 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:73136487G>T uc011csq.1 + 10 1340 c.1329G>T c.(1327-1329)CAG>CAT p.Q443H RGNEF_uc003kcx.2_Missense_Mutation_p.Q443H|RGNEF_uc003kcy.1_Missense_Mutation_p.Q443H|RGNEF_uc010izf.2_Missense_Mutation_p.Q443H|RGNEF_uc011csr.1_Missense_Mutation_p.Q130H NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Rho-guanine nucleotide exchange factor 443 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding 0 Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) AAGCCCAGCAGTCCTTCATGT 0.458 17 15 --- --- --- --- PASS COL4A3BP 10087 broad.mit.edu 37 5 74706902 74706902 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:74706902C>A uc011csu.1 - 8 1286 c.864G>T c.(862-864)GAG>GAT p.E288D COL4A3BP_uc003kds.2_Missense_Mutation_p.E288D|COL4A3BP_uc003kdt.2_Missense_Mutation_p.E416D|COL4A3BP_uc003kdu.2_Missense_Mutation_p.E288D NM_005713 NP_005704 Q9Y5P4 C43BP_HUMAN alpha 3 type IV collagen binding protein isoform 288 Potential. ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity skin(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) TATATGCTTCCTCTGTTCTTC 0.303 35 39 --- --- --- --- PASS PDE8B 8622 broad.mit.edu 37 5 76707522 76707522 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:76707522G>A uc003kfa.2 + 15 1597 c.1552G>A c.(1552-1554)GGA>AGA p.G518R PDE8B_uc003kfb.2_Missense_Mutation_p.G498R|PDE8B_uc003kfc.2_Missense_Mutation_p.G463R|PDE8B_uc003kfd.2_Missense_Mutation_p.G471R|PDE8B_uc003kfe.2_Missense_Mutation_p.G421R NM_003719 NP_003710 O95263 PDE8B_HUMAN phosphodiesterase 8B isoform 1 518 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity 0 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) AAGACTGTCAGGAAACGAGTA 0.373 53 38 --- --- --- --- PASS BHMT2 23743 broad.mit.edu 37 5 78379182 78379182 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:78379182C>A uc003kft.2 + 6 789 c.766C>A c.(766-768)CCA>ACA p.P256T BHMT2_uc011cth.1_Missense_Mutation_p.P192T NM_017614 NP_060084 Q9H2M3 BHMT2_HUMAN betaine-homocysteine methyltransferase 2 256 Hcy-binding. methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding ovary(1) 1 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) TGTGGATCTCCCAGAATATCC 0.502 50 47 --- --- --- --- PASS RASGRF2 5924 broad.mit.edu 37 5 80388701 80388701 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:80388701G>T uc003kha.1 + 10 1472 c.1472G>T c.(1471-1473)GGA>GTA p.G491V RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 491 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) AAAAAGGAAGGAGAGAGACAA 0.388 78 71 --- --- --- --- PASS ATP6AP1L 92270 broad.mit.edu 37 5 81608492 81608492 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:81608492A>G uc003khv.2 + 9 1519 c.194A>G c.(193-195)GAG>GGG p.E65G ATP6AP1L_uc003khw.2_Missense_Mutation_p.E65G NM_001017971 NP_001017971 Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory 65 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 CGCCGAGTCGAGATCATTTCC 0.448 OREG0016689 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 120 119 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90025522 90025522 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:90025522A>T uc003kju.2 + 50 10586 c.10490A>T c.(10489-10491)CAG>CTG p.Q3497L GPR98_uc003kjt.2_Missense_Mutation_p.Q1203L|GPR98_uc003kjv.2_Missense_Mutation_p.Q1097L NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3497 EAR 6.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGGTATTTTCAGTCTGTAGAT 0.378 17 24 --- --- --- --- PASS ANKRD32 84250 broad.mit.edu 37 5 94022349 94022349 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:94022349G>C uc003kkr.3 + 16 2127 c.2047G>C c.(2047-2049)GAG>CAG p.E683Q ANKRD32_uc003kks.2_Missense_Mutation_p.E47Q NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 683 ovary(2) 2 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) GTTTGTTGCAGAGGCAGTCTT 0.393 109 102 --- --- --- --- PASS CAST 831 broad.mit.edu 37 5 96064905 96064905 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:96064905C>T uc003klz.1 + 5 340 c.178C>T c.(178-180)CAC>TAC p.H60Y CAST_uc003klt.2_Missense_Mutation_p.H60Y|CAST_uc003klu.2_Missense_Mutation_p.H143Y|CAST_uc003klv.2_Missense_Mutation_p.H121Y|CAST_uc003klw.2_Intron|CAST_uc003klx.2_Intron|CAST_uc003kly.2_Missense_Mutation_p.H121Y|CAST_uc011cuo.1_Missense_Mutation_p.H106Y|CAST_uc011cup.1_Missense_Mutation_p.H38Y|CAST_uc011cuq.1_Intron|CAST_uc011cur.1_Missense_Mutation_p.H46Y|CAST_uc011cus.1_Missense_Mutation_p.H60Y|CAST_uc003kma.1_Intron|CAST_uc011cut.1_Missense_Mutation_p.H38Y|CAST_uc003kmb.2_Intron|CAST_uc003kmc.2_Missense_Mutation_p.H60Y|CAST_uc003kmd.2_Missense_Mutation_p.H38Y|CAST_uc003kme.2_Intron|CAST_uc003kmf.2_Missense_Mutation_p.H38Y NM_001042443 NP_001035908 P20810 ICAL_HUMAN calpastatin isoform i 60 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(3)|ovary(1)|kidney(1) 5 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) GCCAAAAGAACACACAGAGGT 0.323 26 38 --- --- --- --- PASS SLCO6A1 133482 broad.mit.edu 37 5 101748803 101748803 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:101748803C>G uc003knn.2 - 9 1689 c.1517G>C c.(1516-1518)TGT>TCT p.C506S SLCO6A1_uc003kno.2_Missense_Mutation_p.C253S|SLCO6A1_uc003knp.2_Missense_Mutation_p.C506S|SLCO6A1_uc003knq.2_Missense_Mutation_p.C444S NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 506 Extracellular (Potential).|Kazal-like. integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TGAGCATCTACATTTTTCATT 0.333 42 45 --- --- --- --- PASS SLCO6A1 133482 broad.mit.edu 37 5 101755672 101755672 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:101755672C>A uc003knn.2 - 8 1502 c.1330G>T c.(1330-1332)GTT>TTT p.V444F SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.V444F|SLCO6A1_uc003knq.2_Missense_Mutation_p.V382F NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 444 Helical; Name=8; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AATGTGGAAACAATGACACCT 0.353 31 48 --- --- --- --- PASS GIN1 54826 broad.mit.edu 37 5 102423699 102423699 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:102423699G>A uc003koa.1 - 8 1554 c.1472C>T c.(1471-1473)ACG>ATG p.T491M GIN1_uc003kob.1_Missense_Mutation_p.T344M|GIN1_uc003koc.1_3'UTR NM_017676 NP_060146 Q9NXP7 GIN1_HUMAN zinc finger, H2C2 domain containing 491 DNA integration DNA binding ovary(1)|skin(1) 2 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) AGAGATTTTCGTATTTCTATA 0.343 37 105 --- --- --- --- PASS STARD4 134429 broad.mit.edu 37 5 110835665 110835665 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:110835665C>T uc003kph.1 - 6 621 c.537G>A c.(535-537)GGG>GGA p.G179G STARD4_uc010jbw.1_Silent_p.G81G|STARD4_uc010jbx.1_Silent_p.G81G|STARD4_uc003kpi.1_RNA NM_139164 NP_631903 Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain 179 START. lipid transport lipid binding ovary(1) 1 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) GAGGAATCATCCCACGCAGAT 0.413 39 80 --- --- --- --- PASS CEP120 153241 broad.mit.edu 37 5 122726941 122726941 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:122726941G>A uc003ktk.2 - 8 983 c.901C>T c.(901-903)CAC>TAC p.H301Y CEP120_uc011cwq.1_Missense_Mutation_p.H110Y|CEP120_uc010jcz.1_Missense_Mutation_p.H275Y NM_153223 NP_694955 Q8N960 CE120_HUMAN coiled-coil domain containing 100 301 H -> R (in Ref. 4; CAH10371). centrosome ovary(1) 1 GTGACTGGGTGCTGGTTGATT 0.463 115 88 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127671679 127671679 + Splice_Site SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:127671679C>A uc003kuu.2 - 28 4163 c.3724_splice c.e28+1 p.D1242_splice FBN2_uc003kuv.2_Splice_Site_p.D1209_splice NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCTCCCCTTACCTGTACAGCC 0.458 20 21 --- --- --- --- PASS SLC27A6 28965 broad.mit.edu 37 5 128302173 128302173 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:128302173G>T uc003kuy.2 + 2 739 c.343G>T c.(343-345)GAG>TAG p.E115* SLC27A6_uc003kuz.2_Nonsense_Mutation_p.E115* NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 115 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GATGAGCAATGAGCCGGACTT 0.547 19 26 --- --- --- --- PASS PITX1 5307 broad.mit.edu 37 5 134364975 134364975 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:134364975G>T uc010jea.2 - 3 832 c.439C>A c.(439-441)CGC>AGC p.R147S PITX1_uc011cxy.1_Missense_Mutation_p.R147S NM_002653 NP_002644 P78337 PITX1_HUMAN paired-like homeodomain transcription factor 1 147 Homeobox.|Interacts with PIT-1 (By similarity). nucleolus sequence-specific DNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) TTACGCTCGCGCTTACGCCAC 0.687 45 56 --- --- --- --- PASS CDC23 8697 broad.mit.edu 37 5 137542257 137542257 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:137542257C>A uc003lcl.2 - 3 382 c.351G>T c.(349-351)CTG>CTT p.L117L CDC23_uc003lcm.1_Silent_p.L117L NM_004661 NP_004652 Q9UJX2 CDC23_HUMAN cell division cycle protein 23 117 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AATACATATACAGAAAATAGG 0.393 58 44 --- --- --- --- PASS PCDHA1 56147 broad.mit.edu 37 5 140166549 140166549 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:140166549C>T uc003lhb.2 + 1 674 c.674C>T c.(673-675)ACA>ATA p.T225I PCDHA1_uc003lha.2_Missense_Mutation_p.T225I|PCDHA1_uc003lgz.2_Missense_Mutation_p.T225I NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 225 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCAAGGTACAGTTGAGCTG 0.463 50 39 --- --- --- --- PASS PCDHA1 56147 broad.mit.edu 37 5 140166551 140166551 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:140166551G>A uc003lhb.2 + 1 676 c.676G>A c.(676-678)GTT>ATT p.V226I PCDHA1_uc003lha.2_Missense_Mutation_p.V226I|PCDHA1_uc003lgz.2_Missense_Mutation_p.V226I NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 226 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAAGGTACAGTTGAGCTGCT 0.463 50 40 --- --- --- --- PASS PCDHA1 56147 broad.mit.edu 37 5 140167336 140167336 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:140167336C>A uc003lhb.2 + 1 1461 c.1461C>A c.(1459-1461)AAC>AAA p.N487K PCDHA1_uc003lha.2_Missense_Mutation_p.N487K|PCDHA1_uc003lgz.2_Missense_Mutation_p.N487K NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 487 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGGAGAACGCGCTGGTGT 0.657 48 51 --- --- --- --- PASS PCDHA2 56146 broad.mit.edu 37 5 140175926 140175926 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:140175926G>T uc003lhd.2 + 1 1483 c.1377G>T c.(1375-1377)GAG>GAT p.E459D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.E459D|PCDHA2_uc011czy.1_Missense_Mutation_p.E459D NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 459 Cadherin 5.|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) CACAGCCTGAGTACACAGTAT 0.652 54 49 --- --- --- --- PASS PCDHA4 56144 broad.mit.edu 37 5 140188024 140188024 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:140188024G>T uc003lhi.2 + 1 1353 c.1252G>T c.(1252-1254)GTG>TTG p.V418L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.V418L|PCDHA4_uc011daa.1_Missense_Mutation_p.V418L NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 418 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCGAGAGCGTGTCAGCCTA 0.612 84 96 --- --- --- --- PASS PCDHA5 56143 broad.mit.edu 37 5 140202727 140202727 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:140202727A>G uc003lhl.2 + 1 1367 c.1367A>G c.(1366-1368)CAG>CGG p.Q456R 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_Missense_Mutation_p.Q456R|PCDHA5_uc003lhj.1_Missense_Mutation_p.Q456R NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 456 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTTCGCGCAGCCCCAGTAT 0.677 55 59 --- --- --- --- PASS PCDHA12 56137 broad.mit.edu 37 5 140256677 140256677 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:140256677C>G uc003lic.2 + 1 1747 c.1620C>G c.(1618-1620)GCC>GCG p.A540A 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_Silent_p.A540A NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 540 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) CGCGCGACGCCGGCGTGCCGC 0.697 56 64 --- --- --- --- PASS PCDHAC2 56134 broad.mit.edu 37 5 140358567 140358567 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:140358567G>T uc003lii.2 + 2 2839 c.2599G>T c.(2599-2601)GCC>TCC p.A867S PCDHA1_uc003lha.2_Missense_Mutation_p.A546S|PCDHA1_uc003lhb.2_Missense_Mutation_p.A810S|PCDHA2_uc003lhd.2_Missense_Mutation_p.A808S|PCDHA3_uc003lhf.2_Missense_Mutation_p.A810S|PCDHA4_uc003lhi.2_Missense_Mutation_p.A807S|PCDHA4_uc003lhh.1_Missense_Mutation_p.A807S|PCDHA5_uc003lhk.1_Missense_Mutation_p.A796S|PCDHA5_uc003lhl.2_Missense_Mutation_p.A796S|PCDHA6_uc003lhn.2_Missense_Mutation_p.A546S|PCDHA6_uc003lho.2_Missense_Mutation_p.A810S|PCDHA7_uc003lhq.2_Missense_Mutation_p.A797S|PCDHA8_uc003lhs.2_Missense_Mutation_p.A810S|PCDHA9_uc003lhu.2_Missense_Mutation_p.A810S|PCDHA10_uc003lhw.2_Missense_Mutation_p.A545S|PCDHA10_uc003lhx.2_Missense_Mutation_p.A808S|PCDHA11_uc003lia.2_Missense_Mutation_p.A809S|PCDHA12_uc003lic.2_Missense_Mutation_p.A801S|PCDHA13_uc003lie.1_Missense_Mutation_p.A810S|PCDHA13_uc003lif.2_Missense_Mutation_p.A810S|PCDHAC1_uc003lih.2_Missense_Mutation_p.A823S NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 867 4 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTTACTCTGCCTCCCTGAG 0.463 35 33 --- --- --- --- PASS PCDHB13 56123 broad.mit.edu 37 5 140594417 140594417 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:140594417C>T uc003lja.1 + 1 909 c.722C>T c.(721-723)CCT>CTT p.P241L NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 241 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GATAATGCCCCTGAATTTGAG 0.532 84 102 --- --- --- --- PASS PCDHGA2 56113 broad.mit.edu 37 5 140720414 140720414 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:140720414G>T uc003ljk.1 + 1 2061 c.1876G>T c.(1876-1878)GTG>TTG p.V626L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.V626L NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 626 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGGCGAGGTGCGCACGGC 0.687 45 34 --- --- --- --- PASS PCDHGB1 56104 broad.mit.edu 37 5 140731432 140731432 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:140731432C>G uc003ljo.1 + 1 1605 c.1605C>G c.(1603-1605)TCC>TCG p.S535S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.S535S NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 535 Extracellular (Potential).|Cadherin 5. 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) ACCAGGGCTCCCCCGCGCTCA 0.711 44 50 --- --- --- --- PASS PCDHGA8 9708 broad.mit.edu 37 5 140774289 140774289 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:140774289G>C uc003lkd.1 + 1 2807 c.1909G>C c.(1909-1911)GCG>CCG p.A637P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A637P NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 637 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACAGAGATGCGCTCAAGCA 0.687 21 23 --- --- --- --- PASS PCDHGB6 56100 broad.mit.edu 37 5 140787817 140787817 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:140787817G>A uc003lkj.1 + 1 48 c.48G>A c.(46-48)GTG>GTA p.V16V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.V16V NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 16 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) cgcggcAGGTGCTATTTCCTT 0.547 OREG0016861 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 6 --- --- --- --- PASS PCDHGB7 56099 broad.mit.edu 37 5 140799700 140799700 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:140799700G>T uc003lkn.1 + 1 2419 c.2274G>T c.(2272-2274)GGG>GGT p.G758G 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_uc003lkm.2_Silent_p.G758G|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 758 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGTGCCTGGGGATCAAATGA 0.448 25 40 --- --- --- --- PASS KCTD16 57528 broad.mit.edu 37 5 143853639 143853639 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:143853639C>T uc003lnm.1 + 4 1878 c.1249C>T c.(1249-1251)CCT>TCT p.P417S KCTD16_uc003lnn.1_Missense_Mutation_p.P417S NM_020768 NP_065819 Q68DU8 KCD16_HUMAN potassium channel tetramerisation domain 417 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(2)|ovary(1)|skin(1) 4 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) GAGAAAACATCCTTGGCAATC 0.383 58 63 --- --- --- --- PASS PDE6A 5145 broad.mit.edu 37 5 149245768 149245768 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:149245768C>A uc003lrg.3 - 20 2443 c.2323G>T c.(2323-2325)GGC>TGC p.G775C NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 775 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCAATGAAGCCGACTTGAAGC 0.458 33 32 --- --- --- --- PASS PDGFRB 5159 broad.mit.edu 37 5 149502665 149502665 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:149502665C>A uc003lro.2 - 15 2592 c.2123G>T c.(2122-2124)CGC>CTC p.R708L PDGFRB_uc010jhd.2_Missense_Mutation_p.R547L NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 708 Cytoplasmic (Potential).|Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GGGCGGGCGGCGCTTGTCGGA 0.617 T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 60 60 --- --- --- --- PASS ARSI 340075 broad.mit.edu 37 5 149677244 149677244 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:149677244C>G uc003lrv.2 - 2 1832 c.1243G>C c.(1243-1245)GTG>CTG p.V415L NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I precursor 415 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAGCCTGCACGGCGGTGTTC 0.637 26 40 --- --- --- --- PASS FAM71B 153745 broad.mit.edu 37 5 156589937 156589937 + Missense_Mutation SNP G C C rs115938677 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:156589937G>C uc003lwn.2 - 2 1439 c.1339C>G c.(1339-1341)CGC>GGC p.R447G NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 447 Bipartite nuclear localization signal (Potential). nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTGCCTTGCGGTGATGAGAA 0.498 128 104 --- --- --- --- PASS RNF145 153830 broad.mit.edu 37 5 158621832 158621832 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:158621832C>G uc003lxp.2 - 3 498 c.185G>C c.(184-186)GGT>GCT p.G62A RNF145_uc011ddy.1_Missense_Mutation_p.G76A|RNF145_uc003lxo.1_Missense_Mutation_p.G90A|RNF145_uc011ddz.1_Missense_Mutation_p.G79A|RNF145_uc010jiq.1_Missense_Mutation_p.G92A|RNF145_uc011dea.1_Missense_Mutation_p.G78A NM_144726 NP_653327 Q96MT1 RN145_HUMAN ring finger protein 145 62 Helical; (Potential). integral to membrane zinc ion binding ovary(3)|lung(1)|skin(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TAAGATATAACCTGTACCAGA 0.333 59 42 --- --- --- --- PASS GABRP 2568 broad.mit.edu 37 5 170222299 170222299 + Missense_Mutation SNP C A A rs145233692 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:170222299C>A uc003mau.2 + 5 526 c.328C>A c.(328-330)CGC>AGC p.R110S GABRP_uc011dev.1_Missense_Mutation_p.R110S NM_014211 NP_055026 O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 110 Extracellular (Potential). cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCTGGATGCCCGCCTCGTGGA 0.562 133 106 --- --- --- --- PASS HRH2 3274 broad.mit.edu 37 5 175111071 175111071 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:175111071G>C uc003mdd.2 + 1 2608 c.835G>C c.(835-837)GCC>CCC p.A279P HRH2_uc003mdc.3_Missense_Mutation_p.A279P NM_022304 NP_071640 P25021 HRH2_HUMAN histamine receptor H2 isoform 2 279 Helical; Name=7; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity ovary(1) 1 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) GCTGGGCTATGCCAACTCAGC 0.572 45 28 --- --- --- --- PASS FAM153B 202134 broad.mit.edu 37 5 175533576 175533576 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:175533576C>A uc003mdk.2 + 16 902 c.845C>A c.(844-846)CCA>CAA p.P282Q NM_001079529 NP_001072997 P0C7A2 F153B_HUMAN hypothetical protein LOC202134 282 ovary(1) 1 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) 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;0.000183) Kidney(146;0.0965) CAGGTGGACCCAGCCACGCCG 0.463 100 150 --- --- --- --- PASS DBN1 1627 broad.mit.edu 37 5 176893795 176893795 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:176893795C>A uc003mgy.2 - 8 921 c.749G>T c.(748-750)CGG>CTG p.R250L DBN1_uc003mgx.2_Missense_Mutation_p.R252L|DBN1_uc010jkn.1_Missense_Mutation_p.R200L|DBN1_uc003mgz.1_Missense_Mutation_p.R187L NM_004395 NP_004386 Q16643 DREB_HUMAN drebrin 1 isoform a 250 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|ovary(1)|lung(1)|skin(1) 6 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCCTTCAACCGCCTCTTGGC 0.597 118 103 --- --- --- --- PASS PROP1 5626 broad.mit.edu 37 5 177419911 177419911 + Silent SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:177419911T>A uc003mif.1 - 3 789 c.480A>T c.(478-480)CCA>CCT p.P160P NM_006261 NP_006252 O75360 PROP1_HUMAN PROP paired-like homeobox 1 160 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGTGGTGGTGGTGCTGCGT 0.597 21 25 --- --- --- --- PASS ADAMTS2 9509 broad.mit.edu 37 5 178554976 178554976 + Silent SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:178554976G>C uc003mjw.2 - 17 2601 c.2601C>G c.(2599-2601)TCC>TCG p.S867S NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 867 TSP type-1 2. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CACAGGGCTTGGAGCACGGAG 0.607 68 72 --- --- --- --- PASS FOXF2 2295 broad.mit.edu 37 6 1391171 1391171 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:1391171A>T uc003mtm.2 + 1 1103 c.989A>T c.(988-990)CAC>CTC p.H330L FOXF2_uc003mtn.2_Missense_Mutation_p.H330L NM_001452 NP_001443 Q12947 FOXF2_HUMAN forkhead box F2 330 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 0 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) ATCGAATGCCACTCGCCCTAC 0.612 7 4 --- --- --- --- PASS NUP153 9972 broad.mit.edu 37 6 17688803 17688803 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:17688803C>A uc003ncd.1 - 2 358 c.158G>T c.(157-159)GGG>GTG p.G53V NUP153_uc011dje.1_Missense_Mutation_p.G53V|NUP153_uc010jpl.1_Missense_Mutation_p.G53V NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 53 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) TTGTAGCCACCCTGGCACAAT 0.378 164 84 --- --- --- --- PASS SLC17A4 10050 broad.mit.edu 37 6 25769301 25769301 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:25769301C>G uc003nfe.2 + 3 299 c.180C>G c.(178-180)GCC>GCG p.A60A SLC17A4_uc011djx.1_Silent_p.A60A|SLC17A4_uc003nff.1_5'UTR|SLC17A4_uc003nfg.2_5'UTR NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 60 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 TGAGCATTGCCATCCCAGCTA 0.493 90 57 --- --- --- --- PASS HIST1H3A 8350 broad.mit.edu 37 6 26020907 26020907 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:26020907C>A uc003nfp.1 + 1 190 c.190C>A c.(190-192)CGT>AGT p.R64S HIST1H1A_uc003nfo.2_5'Flank|HIST1H4A_uc003nfq.2_5'Flank NM_003529 NP_003520 P68431 H31_HUMAN histone cluster 1, H3a 64 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1)|pancreas(1) 2 ACTGCTTATTCGTAAACTACC 0.607 50 24 --- --- --- --- PASS HIST1H3E 8353 broad.mit.edu 37 6 26225524 26225524 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:26225524G>T uc003nhb.2 + 2 502 c.142G>T c.(142-144)GCT>TCT p.A48S HIST1H3E_uc003nhc.3_Missense_Mutation_p.A48S NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 48 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) TGGCACCGTGGCTCTGCGCGA 0.617 63 22 --- --- --- --- PASS BTN2A2 10385 broad.mit.edu 37 6 26393015 26393015 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:26393015C>A uc003nhq.2 + 8 1478 c.1392C>A c.(1390-1392)GAC>GAA p.D464E BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Missense_Mutation_p.D348E|BTN2A2_uc011dkh.1_Missense_Mutation_p.D254E|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Missense_Mutation_p.D464E|BTN2A2_uc011dki.1_3'UTR NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 464 B30.2/SPRY.|Cytoplasmic (Potential). negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 ACATGAGGGACAGATCGCACA 0.547 5 146 --- --- --- --- PASS BTN1A1 696 broad.mit.edu 37 6 26501971 26501971 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:26501971G>A uc003nif.3 + 2 253 c.233G>A c.(232-234)AGG>AAG p.R78K NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 78 Extracellular (Potential).|Ig-like V-type 1. extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 CTGGTGCATAGGGACGGGCGC 0.692 29 14 --- --- --- --- PASS ZNF165 7718 broad.mit.edu 37 6 28056811 28056811 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:28056811G>A uc003nkg.2 + 5 2105 c.1021G>A c.(1021-1023)GAT>AAT p.D341N ZNF165_uc003nkh.2_Missense_Mutation_p.D341N|ZNF165_uc003nki.3_Missense_Mutation_p.D341N|ZSCAN12P1_uc003nkj.3_5'Flank NM_003447 NP_003438 P49910 ZN165_HUMAN zinc finger protein 165 341 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TTTCAGTGGAGATAAAACTCA 0.378 47 21 --- --- --- --- PASS OR2B3 442184 broad.mit.edu 37 6 29054515 29054515 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:29054515G>T uc003nlx.2 - 1 576 c.511C>A c.(511-513)CAC>AAC p.H171N NM_001005226 NP_001005226 olfactory receptor, family 2, subfamily B, skin(1) 1 ACTTCCTGGTGACCACAGCGT 0.488 61 30 --- --- --- --- PASS GABBR1 2550 broad.mit.edu 37 6 29574167 29574167 + Splice_Site SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:29574167C>A uc003nmt.3 - 19 2647 c.2311_splice c.e19+1 p.G771_splice GABBR1_uc003nmp.3_Splice_Site_p.G654_splice|GABBR1_uc003nms.3_Splice_Site_p.G654_splice|GABBR1_uc003nmu.3_Splice_Site_p.G709_splice|GABBR1_uc011dlr.1_Splice_Site_p.G594_splice NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) ATCCCACACACCAAGCCATGT 0.547 141 89 --- --- --- --- PASS MOG 4340 broad.mit.edu 37 6 29627378 29627378 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:29627378G>C uc003nnf.2 + 2 549 c.371G>C c.(370-372)GGT>GCT p.G124A MOG_uc003qzk.1_Missense_Mutation_p.G124A|MOG_uc010kle.1_Intron|MOG_uc010klf.1_Intron|MOG_uc003nmy.1_Missense_Mutation_p.G124A|MOG_uc003nmz.2_Missense_Mutation_p.G124A|MOG_uc011dlt.1_Missense_Mutation_p.G54A|MOG_uc003nna.2_Intron|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_Missense_Mutation_p.G124A|MOG_uc003nne.2_Missense_Mutation_p.G124A|MOG_uc003nng.2_Missense_Mutation_p.G124A|MOG_uc003nnh.2_Missense_Mutation_p.G124A|MOG_uc003nni.2_Missense_Mutation_p.G124A|MOG_uc003nnj.2_Missense_Mutation_p.G124A|MOG_uc003nnk.2_Missense_Mutation_p.G124A NM_206809 NP_996532 Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein isoform 124 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 GATGAAGGAGGTTTCACCTGC 0.458 77 21 --- --- --- --- PASS MOG 4340 broad.mit.edu 37 6 29633931 29633931 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:29633931C>A uc003nnf.2 + 3 617 c.439C>A c.(439-441)CCT>ACT p.P147T MOG_uc003nmy.1_Missense_Mutation_p.P147T|MOG_uc003nmz.2_3'UTR|MOG_uc011dlt.1_Missense_Mutation_p.P77T|MOG_uc003nna.2_Missense_Mutation_p.P31T|MOG_uc011dlu.1_Missense_Mutation_p.P31T|MOG_uc011dlv.1_Missense_Mutation_p.P31T|MOG_uc003nnd.2_3'UTR|MOG_uc003nne.2_Missense_Mutation_p.P147T|MOG_uc003nng.2_Missense_Mutation_p.P147T|MOG_uc003nnh.2_Missense_Mutation_p.P147T|MOG_uc003nni.2_Missense_Mutation_p.P147T|MOG_uc003nnj.2_Missense_Mutation_p.P147T|MOG_uc003nnk.2_Missense_Mutation_p.P147T NM_206809 NP_996532 Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein isoform 147 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 cctttcagatcctttctactg 0.299 176 83 --- --- --- --- PASS DDR1 780 broad.mit.edu 37 6 30859793 30859793 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:30859793G>T uc003nrr.2 + 8 939 c.680G>T c.(679-681)GGT>GTT p.G227V DDR1_uc010jse.2_Missense_Mutation_p.G227V|DDR1_uc003nrq.2_Missense_Mutation_p.G227V|DDR1_uc003nrs.2_Missense_Mutation_p.G227V|DDR1_uc003nrt.2_Missense_Mutation_p.G227V|DDR1_uc011dms.1_Missense_Mutation_p.G245V|DDR1_uc003nru.2_Missense_Mutation_p.G227V|DDR1_uc011dmu.1_Missense_Mutation_p.V194F|DDR1_uc003nrv.2_Missense_Mutation_p.G227V|DDR1_uc003nrw.1_Missense_Mutation_p.G26V|DDR1_uc003nry.1_5'Flank|DDR1_uc003nrx.1_5'Flank NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 227 Extracellular (Potential). cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) CAGTATGGGGGTCTGGGCCAG 0.597 172 71 --- --- --- --- PASS VARS 7407 broad.mit.edu 37 6 31749688 31749688 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:31749688C>A uc003nxe.2 - 19 2706 c.2283G>T c.(2281-2283)GCG>GCT p.A761A VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 761 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) CCCGGGCCTCCGCCTCATTGC 0.627 205 96 --- --- --- --- PASS VARS 7407 broad.mit.edu 37 6 31760824 31760824 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:31760824C>A uc003nxe.2 - 3 884 c.461G>T c.(460-462)GGG>GTG p.G154V VARS_uc011doi.1_Intron NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 154 GST C-terminal. translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) GGGGGCCTCCCCGGCCAAGTA 0.652 27 22 --- --- --- --- PASS BRD2 6046 broad.mit.edu 37 6 32944196 32944196 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:32944196G>T uc003ocn.3 + 6 2481 c.780G>T c.(778-780)CCG>CCT p.P260P BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.P260P|BRD2_uc003ocp.3_Silent_p.P140P|BRD2_uc010juh.2_Silent_p.P260P NM_005104 NP_005095 P25440 BRD2_HUMAN bromodomain containing 2 260 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 CTGGACCCCCGCTCCTTGCTG 0.542 92 49 --- --- --- --- PASS TCP11 6954 broad.mit.edu 37 6 35108619 35108619 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:35108619G>A uc003okd.2 - 2 249 c.68C>T c.(67-69)CCG>CTG p.P23L TCP11_uc003ojz.1_5'UTR|TCP11_uc003oka.2_5'UTR|TCP11_uc003okb.2_5'UTR|TCP11_uc003okc.2_5'UTR|TCP11_uc011dsu.1_Missense_Mutation_p.P10L|TCP11_uc011dsv.1_Intron|TCP11_uc011dsw.1_Intron NM_001093728 NP_001087197 Q8WWU5 TCP11_HUMAN t-complex 11 isoform 1 10 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(3)|skin(2) 5 AGGATATTTCGGGGGCACACT 0.612 31 4 --- --- --- --- PASS SLC26A8 116369 broad.mit.edu 37 6 35923176 35923176 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:35923176G>T uc003olm.2 - 17 2096 c.1985C>A c.(1984-1986)CCA>CAA p.P662Q SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.P244Q|SLC26A8_uc003oln.2_Missense_Mutation_p.P662Q|SLC26A8_uc003oll.2_Missense_Mutation_p.P557Q NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 662 STAS.|Cytoplasmic (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 TACTGTGTATGGCACTTGGTC 0.448 109 54 --- --- --- --- PASS C6orf89 221477 broad.mit.edu 37 6 36884283 36884283 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:36884283C>T uc003omx.2 + 7 1042 c.758C>T c.(757-759)CCA>CTA p.P253L C6orf89_uc003omv.2_Missense_Mutation_p.P147L|C6orf89_uc003omw.2_Missense_Mutation_p.P260L|C6orf89_uc011dtr.1_Missense_Mutation_p.P147L|C6orf89_uc003omy.2_Missense_Mutation_p.P87L NM_152734 NP_689947 Q6UWU4 CF089_HUMAN hypothetical protein LOC221477 253 integral to membrane ovary(1) 1 ACTCACCTGCCATTTCCAAAA 0.398 108 57 --- --- --- --- PASS USP49 25862 broad.mit.edu 37 6 41774093 41774093 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:41774093C>A uc003ori.2 - 4 851 c.629G>T c.(628-630)CGG>CTG p.R210L NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN ubiquitin thioesterase 49 210 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CAGGAGCAGCCGTGCACTCTT 0.557 6 3 --- --- --- --- PASS CRISP1 167 broad.mit.edu 37 6 49814308 49814308 + Nonsense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:49814308G>C uc003ozw.2 - 5 439 c.360C>G c.(358-360)TAC>TAG p.Y120* CRISP1_uc003ozx.2_Nonsense_Mutation_p.Y120* NM_001131 NP_001122 P54107 CRIS1_HUMAN acidic epididymal glycoprotein-like 1 isoform 1 120 fusion of sperm to egg plasma membrane extracellular space 0 Lung NSC(77;0.0358) TAGACTCACTGTACCAGACTC 0.418 72 69 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51771113 51771113 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:51771113C>A uc003pah.1 - 41 6984 c.6708G>T c.(6706-6708)GTG>GTT p.V2236V PKHD1_uc010jzn.1_Intron|PKHD1_uc003pai.2_Silent_p.V2236V NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2236 Extracellular (Potential).|PbH1 1. 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) AGGAGTTCCTCACTGTGCAGC 0.438 48 49 --- --- --- --- PASS FAM83B 222584 broad.mit.edu 37 6 54806171 54806171 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:54806171G>T uc003pck.2 + 5 2518 c.2402G>T c.(2401-2403)TGT>TTT p.C801F NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 801 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) TATAGATTGTGTAGTAGCTCT 0.358 29 38 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 70071070 70071070 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:70071070G>T uc003pev.3 + 29 4353 c.3905G>T c.(3904-3906)AGA>ATA p.R1302I BAI3_uc010kak.2_Missense_Mutation_p.R1302I|BAI3_uc011dxx.1_Missense_Mutation_p.R508I NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1302 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CCTCAAGAAAGAATGATGGAA 0.373 37 32 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 70082331 70082331 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:70082331G>T uc003pev.3 + 30 4721 c.4273G>T c.(4273-4275)GAG>TAG p.E1425* BAI3_uc010kak.2_Nonsense_Mutation_p.E1425*|BAI3_uc011dxx.1_Nonsense_Mutation_p.E631* NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1425 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CCTTGACTTTGAGGTAAGTTT 0.249 14 18 --- --- --- --- PASS IMPG1 3617 broad.mit.edu 37 6 76712652 76712652 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:76712652G>T uc003pik.1 - 12 1404 c.1274C>A c.(1273-1275)GCA>GAA p.A425E NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 425 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) ACCATGCTCTGCTCCGTCCAC 0.443 21 20 --- --- --- --- PASS BCKDHB 594 broad.mit.edu 37 6 80881107 80881107 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:80881107G>T uc003pjd.2 + 6 809 c.742G>T c.(742-744)GCG>TCG p.A248S BCKDHB_uc003pje.2_Missense_Mutation_p.A248S NM_000056 NP_000047 P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1 beta 248 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding 0 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) CAGGGCAGCAGGTAAAGATTT 0.284 13 18 --- --- --- --- PASS SNAP91 9892 broad.mit.edu 37 6 84290221 84290221 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:84290221G>T uc011dze.1 - 23 2564 c.2247C>A c.(2245-2247)GCC>GCA p.A749A SNAP91_uc011dzd.1_Silent_p.A247A|SNAP91_uc003pkb.2_Silent_p.A658A|SNAP91_uc003pkc.2_Silent_p.A719A|SNAP91_uc003pkd.2_Silent_p.A442A|SNAP91_uc003pka.2_Silent_p.A747A NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 749 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GGGCTTTGCTGGCTGCCATTG 0.458 56 53 --- --- --- --- PASS PRDM1 639 broad.mit.edu 37 6 106553194 106553194 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:106553194G>T uc003prd.2 + 5 1393 c.1159G>T c.(1159-1161)GGC>TGC p.G387C PRDM1_uc003pre.2_Missense_Mutation_p.G253C NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 387 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GGAAGGTTTGGGCTCCTACCC 0.637 D|N|Mis|F|S DLBCL 43 42 --- --- --- --- PASS AIM1 202 broad.mit.edu 37 6 106960405 106960405 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:106960405G>T uc003prh.2 + 1 676 c.189G>T c.(187-189)CGG>CGT p.R63R NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 63 sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AATCTCCGCGGGCAGCCCTCG 0.677 7 9 --- --- --- --- PASS KIAA1919 91749 broad.mit.edu 37 6 111587213 111587213 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:111587213G>T uc003puv.3 + 4 870 c.448G>T c.(448-450)GCT>TCT p.A150S NM_153369 NP_699200 Q5TF39 NAGT1_HUMAN sodium-dependent glucose transporter 1 150 Extracellular (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) GACAGCGTCTGCTGAAAACCA 0.478 26 36 --- --- --- --- PASS FYN 2534 broad.mit.edu 37 6 112041170 112041170 + Missense_Mutation SNP G C C rs113851622 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:112041170G>C uc003pvj.2 - 3 425 c.85C>G c.(85-87)CGC>GGC p.R29G FYN_uc003pvi.2_Missense_Mutation_p.R29G|FYN_uc003pvk.2_Missense_Mutation_p.R29G|FYN_uc003pvh.2_Missense_Mutation_p.R29G NM_002037 NP_002028 P06241 FYN_HUMAN protein-tyrosine kinase fyn isoform a 29 axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity lung(5)|central_nervous_system(1)|skin(1) 7 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) GTGCCATAGCGGTACCCAGAG 0.562 35 37 --- --- --- --- PASS WISP3 8838 broad.mit.edu 37 6 112382385 112382385 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:112382385G>T uc003pvm.2 + 3 350 c.240G>T c.(238-240)AAG>AAT p.K80N WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.K98N NM_003880 NP_003871 O95389 WISP3_HUMAN WNT1 inducible signaling pathway protein 3 80 IGFBP N-terminal. cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding 0 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) TCTGTGCCAAGCAACCAGGGG 0.537 61 50 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112462013 112462013 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:112462013C>T uc003pvu.2 - 22 3234 c.2925G>A c.(2923-2925)CTG>CTA p.L975L LAMA4_uc003pvv.2_Silent_p.L968L|LAMA4_uc003pvt.2_Silent_p.L968L NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 975 Laminin G-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CCTCAGGGTCCAGGTCCAGCA 0.428 45 54 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112486416 112486416 + Silent SNP C G G rs143587921 by1000genomes TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:112486416C>G uc003pvu.2 - 13 1923 c.1614G>C c.(1612-1614)GCG>GCC p.A538A LAMA4_uc003pvv.2_Silent_p.A531A|LAMA4_uc003pvt.2_Silent_p.A531A NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 538 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TCAGAGAGTCCGCAGATGTGC 0.438 62 61 --- --- --- --- PASS DCBLD1 285761 broad.mit.edu 37 6 117858346 117858346 + Splice_Site SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:117858346A>T uc003pxs.2 + 7 845 c.720_splice c.e7-2 p.D240_splice GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Splice_Site_p.D240_splice|DCBLD1_uc003pxt.1_5'Flank NM_173674 NP_775945 Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 cell adhesion integral to membrane ovary(1) 1 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) TTATTGTTTCAGTGGTTCCCT 0.249 111 87 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129674447 129674447 + Silent SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:129674447A>G uc003qbn.2 + 32 4767 c.4662A>G c.(4660-4662)GGA>GGG p.G1554G LAMA2_uc003qbo.2_Silent_p.G1554G NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1554 Laminin EGF-like 17. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAGCCACGGGAAGGAAGTGTG 0.557 61 55 --- --- --- --- PASS SAMD3 154075 broad.mit.edu 37 6 130505284 130505284 + Missense_Mutation SNP C A A rs41285308 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:130505284C>A uc003qbv.2 - 8 944 c.618G>T c.(616-618)CAG>CAT p.Q206H SAMD3_uc003qbx.2_Missense_Mutation_p.Q206H|SAMD3_uc003qbw.2_Missense_Mutation_p.Q206H|SAMD3_uc010kfg.1_Missense_Mutation_p.Q206H|SAMD3_uc003qby.2_Missense_Mutation_p.Q206H|SAMD3_uc003qbz.1_Missense_Mutation_p.Q165H NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 206 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) AAGGGTGGGCCTGCAGCAGGG 0.473 36 36 --- --- --- --- PASS ENPP3 5169 broad.mit.edu 37 6 132014756 132014756 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:132014756G>T uc003qcu.3 + 16 1751 c.1404G>T c.(1402-1404)CTG>CTT p.L468L ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.L468L NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 468 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) AACAGTGGCTGGCTGTTAGGT 0.393 71 70 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136599464 136599464 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:136599464C>G uc003qgx.1 - 4 808 c.555G>C c.(553-555)GAG>GAC p.E185D BCLAF1_uc003qgw.1_Missense_Mutation_p.E185D|BCLAF1_uc003qgy.1_Missense_Mutation_p.E183D|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.E183D NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 185 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CTTTCGGTTCCTCCTGTGATT 0.423 67 325 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136600970 136600970 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:136600970C>T uc003qgx.1 - 3 288 c.35G>A c.(34-36)AGG>AAG p.R12K BCLAF1_uc003qgw.1_Missense_Mutation_p.R12K|BCLAF1_uc003qgy.1_Missense_Mutation_p.R12K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R12K NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 12 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AGACTTTGACCTTGAAGAATG 0.303 8 119 --- --- --- --- PASS GPR126 57211 broad.mit.edu 37 6 142723805 142723805 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:142723805G>T uc010khc.2 + 13 2204 c.1793G>T c.(1792-1794)GGG>GTG p.G598V GPR126_uc010khd.2_Missense_Mutation_p.G570V|GPR126_uc010khe.2_Missense_Mutation_p.G598V|GPR126_uc010khf.2_Missense_Mutation_p.G570V NM_020455 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 alpha 1 598 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) ACTGCTGATGGGCAGAACTTA 0.333 11 24 --- --- --- --- PASS HIVEP2 3097 broad.mit.edu 37 6 143082622 143082622 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:143082622C>A uc003qjd.2 - 8 6342 c.5599G>T c.(5599-5601)GAT>TAT p.D1867Y NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1867 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GTTTCTGTATCATCCACCGAT 0.393 138 114 --- --- --- --- PASS RAB32 10981 broad.mit.edu 37 6 146875734 146875734 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:146875734G>A uc003qln.1 + 3 851 c.671G>A c.(670-672)TGT>TAT p.C224Y NM_006834 NP_006825 Q13637 RAB32_HUMAN RAB32, member RAS oncogene family 224 protein transport|small GTPase mediated signal transduction mitochondrion GTP binding 0 Ovarian(120;0.142) OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608) AAATCCCAGTGTTGCTGATAT 0.428 30 81 --- --- --- --- PASS C6orf97 80129 broad.mit.edu 37 6 151939118 151939118 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:151939118G>T uc003qol.2 + 11 2073 c.1984G>T c.(1984-1986)GGC>TGC p.G662C NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 662 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) GCAGATGCTAGGCTTGAACGT 0.448 45 76 --- --- --- --- PASS ZDHHC14 79683 broad.mit.edu 37 6 158093997 158093997 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:158093997A>T uc003qqt.2 + 9 1807 c.1310A>T c.(1309-1311)CAG>CTG p.Q437L ZDHHC14_uc003qqs.2_Missense_Mutation_p.Q422L|ZDHHC14_uc010kjn.2_Missense_Mutation_p.Q92L NM_024630 NP_078906 Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 isoform 1 437 integral to membrane acyltransferase activity|zinc ion binding ovary(1)|skin(1) 2 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) ATGGGCCACCAGTTCCTGACG 0.731 8 4 --- --- --- --- PASS IGF2R 3482 broad.mit.edu 37 6 160494403 160494403 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:160494403G>T uc003qta.2 + 34 4997 c.4849G>T c.(4849-4851)GAG>TAG p.E1617* NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 1617 11.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GTGCAGGCCTGAGGCCAGGCC 0.592 34 35 --- --- --- --- PASS RPS6KA2 6196 broad.mit.edu 37 6 167184401 167184401 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:167184401C>A uc003qvd.1 - 3 237 c.124G>T c.(124-126)GGC>TGC p.G42C RPS6KA2_uc003qvc.1_Intron NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide Error:Variant_position_missing_in_Q15349_after_alignment axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) TCACTTTTGCCCTGTGAAAAT 0.438 56 51 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169648981 169648981 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:169648981C>A uc003qwt.2 - 4 388 c.140G>T c.(139-141)GGG>GTG p.G47V NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 47 TSP N-terminal.|Heparin-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GGGGTCGGGCCCGCGGAACTG 0.582 36 28 --- --- --- --- PASS SUN1 23353 broad.mit.edu 37 7 883097 883097 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:883097G>T uc011jvp.1 + 6 677 c.598G>T c.(598-600)GCG>TCG p.A200S SUN1_uc010ksa.1_Missense_Mutation_p.A221S|SUN1_uc003sje.1_Missense_Mutation_p.A200S|SUN1_uc003sjf.2_Missense_Mutation_p.A150S|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Missense_Mutation_p.A11S NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 200 Nuclear. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 CGTGCTCACGGCGCACCCCGC 0.587 59 225 --- --- --- --- PASS INTS1 26173 broad.mit.edu 37 7 1532691 1532691 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:1532691T>C uc003skn.2 - 16 2221 c.2120A>G c.(2119-2121)AAT>AGT p.N707S INTS1_uc003skp.1_Missense_Mutation_p.N54S NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 707 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GGTGCACAGATTCAGAACGGC 0.423 18 55 --- --- --- --- PASS INTS1 26173 broad.mit.edu 37 7 1539521 1539521 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:1539521T>A uc003skn.2 - 5 784 c.683A>T c.(682-684)AAG>ATG p.K228M INTS1_uc003skq.2_Missense_Mutation_p.K228M NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 228 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GACGCTCACCTTGACAAAGAT 0.607 4 16 --- --- --- --- PASS INTS1 26173 broad.mit.edu 37 7 1539889 1539889 + Missense_Mutation SNP T G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:1539889T>G uc003skn.2 - 4 564 c.463A>C c.(463-465)AAG>CAG p.K155Q INTS1_uc003skq.2_Missense_Mutation_p.K155Q NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 155 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CTGTCAGGCTTGGCGCGGGTG 0.632 7 7 --- --- --- --- PASS RBAK 57786 broad.mit.edu 37 7 5103661 5103661 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:5103661G>A uc010kss.1 + 6 898 c.574G>A c.(574-576)GAA>AAA p.E192K LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.E192K NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 192 Required for interaction with RB1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) TCACAATGAAGAAAATATTCT 0.328 45 39 --- --- --- --- PASS RNF216 54476 broad.mit.edu 37 7 5754762 5754762 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:5754762C>A uc003soy.1 - 11 1774 c.1584G>T c.(1582-1584)ACG>ACT p.T528T RNF216_uc010ksz.1_Silent_p.T150T|RNF216_uc010kta.1_Silent_p.T150T|RNF216_uc011jwj.1_Silent_p.T150T|RNF216_uc003sox.1_Silent_p.T585T NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 528 RING-type 1. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) CTGCGCACTGCGTCAGCTCCT 0.488 141 215 --- --- --- --- PASS ZDHHC4 55146 broad.mit.edu 37 7 6624666 6624666 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:6624666G>T uc003sqi.2 + 8 874 c.516G>T c.(514-516)GTG>GTT p.V172V ZDHHC4_uc003sql.2_Silent_p.V172V|ZDHHC4_uc003sqh.2_Silent_p.V172V|ZDHHC4_uc003sqj.2_Silent_p.V172V|ZDHHC4_uc003sqk.2_Silent_p.V172V|ZDHHC4_uc003sqm.2_Silent_p.V172V NM_001134388 NP_001127860 Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 172 DHHC-type. integral to membrane acyltransferase activity|zinc ion binding breast(1)|pancreas(1) 2 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) ACTGGTGTGTGCACCGTTTCG 0.537 12 54 --- --- --- --- PASS COL28A1 340267 broad.mit.edu 37 7 7571510 7571510 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:7571510G>A uc003src.1 - 3 267 c.150C>T c.(148-150)GTC>GTT p.V50V COL28A1_uc011jxe.1_5'UTR NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 50 VWFA 1. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CCACGATGAAGACAATATCTA 0.358 14 75 --- --- --- --- PASS DGKB 1607 broad.mit.edu 37 7 14622750 14622750 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:14622750G>T uc003ssz.2 - 17 1636 c.1449C>A c.(1447-1449)TTC>TTA p.F483L DGKB_uc011jxt.1_Missense_Mutation_p.F464L|DGKB_uc003sta.2_Missense_Mutation_p.F483L|DGKB_uc011jxu.1_Missense_Mutation_p.F482L NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 483 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) GAACATCACGGAAAAAGTTTA 0.368 16 31 --- --- --- --- PASS TMEM195 392636 broad.mit.edu 37 7 15458244 15458244 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:15458244G>T uc003stb.1 - 5 718 c.548C>A c.(547-549)CCT>CAT p.P183H NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 183 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 ATATACTGAAGGGGGTATGAA 0.299 16 45 --- --- --- --- PASS TMEM195 392636 broad.mit.edu 37 7 15458245 15458245 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:15458245G>T uc003stb.1 - 5 717 c.547C>A c.(547-549)CCT>ACT p.P183T NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 183 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 TATACTGAAGGGGGTATGAAG 0.299 16 44 --- --- --- --- PASS BZW2 28969 broad.mit.edu 37 7 16705107 16705107 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:16705107G>T uc003stl.2 + 2 217 c.39G>T c.(37-39)CGG>CGT p.R13R BZW2_uc011jxx.1_5'UTR|BZW2_uc003stm.2_5'UTR|BZW2_uc003stj.2_Silent_p.R13R|BZW2_uc003stk.2_Intron|BZW2_uc003stn.1_Silent_p.R13R|BZW2_uc003sto.1_5'UTR|BZW2_uc003stp.2_5'UTR|BZW2_uc010kua.2_Silent_p.R13R NM_001159767 NP_001153239 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 13 cell differentiation|nervous system development|RNA metabolic process protein binding ovary(2) 2 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) CAGGCCAGCGGTTCAAAACTC 0.294 28 53 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18914114 18914114 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:18914114C>A uc003suh.2 + 21 2730 c.2689C>A c.(2689-2691)CCT>ACT p.P897T HDAC9_uc003sue.2_Missense_Mutation_p.P897T|HDAC9_uc003sui.2_Missense_Mutation_p.P900T|HDAC9_uc003suj.2_Missense_Mutation_p.P856T|HDAC9_uc003suk.2_Missense_Mutation_p.P145T NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 897 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CATCGTGAAGCCTGTGGCCAA 0.483 5 17 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21639426 21639426 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:21639426G>C uc003svc.2 + 15 2720 c.2689G>C c.(2689-2691)GCC>CCC p.A897P NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 897 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GCTCTTCAAAGCCAATCCCTC 0.338 Kartagener_syndrome 16 16 --- --- --- --- PASS GPNMB 10457 broad.mit.edu 37 7 23309634 23309634 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:23309634C>G uc003swc.2 + 9 1466 c.1305C>G c.(1303-1305)ATC>ATG p.I435M GPNMB_uc003swb.2_Missense_Mutation_p.I423M|GPNMB_uc011jyy.1_Missense_Mutation_p.I377M|GPNMB_uc011jyz.1_Missense_Mutation_p.I324M NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 435 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) CCTGCGAGATCACCCAGAACA 0.577 77 145 --- --- --- --- PASS GPNMB 10457 broad.mit.edu 37 7 23309696 23309696 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:23309696G>T uc003swc.2 + 9 1528 c.1367G>T c.(1366-1368)CGA>CTA p.R456L GPNMB_uc003swb.2_Missense_Mutation_p.R444L|GPNMB_uc011jyy.1_Missense_Mutation_p.R398L|GPNMB_uc011jyz.1_Missense_Mutation_p.R345L NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 456 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) ACTGTGAGACGAACCTTCAAT 0.547 55 91 --- --- --- --- PASS STK31 56164 broad.mit.edu 37 7 23792389 23792389 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:23792389G>T uc003sws.3 + 9 1138 c.1071G>T c.(1069-1071)AAG>AAT p.K357N STK31_uc003swt.3_Missense_Mutation_p.K334N|STK31_uc011jze.1_Missense_Mutation_p.K357N|STK31_uc010kuq.2_Missense_Mutation_p.K334N NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 357 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 ACACTCTGAAGACCTATATAG 0.358 23 92 --- --- --- --- PASS STK31 56164 broad.mit.edu 37 7 23802424 23802424 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:23802424A>T uc003sws.3 + 11 1365 c.1298A>T c.(1297-1299)GAA>GTA p.E433V STK31_uc003swt.3_Missense_Mutation_p.E410V|STK31_uc011jze.1_Missense_Mutation_p.E433V|STK31_uc010kuq.2_Missense_Mutation_p.E410V NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 433 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 CTCCAGAGTGAAGGGAATATT 0.323 66 100 --- --- --- --- PASS STK31 56164 broad.mit.edu 37 7 23808706 23808706 + Missense_Mutation SNP T G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:23808706T>G uc003sws.3 + 12 1576 c.1509T>G c.(1507-1509)TGT>TGG p.C503W STK31_uc003swt.3_Missense_Mutation_p.C480W|STK31_uc011jze.1_Missense_Mutation_p.C503W|STK31_uc010kuq.2_Missense_Mutation_p.C480W NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 503 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 ACTGGAAGTGTGATAAAAGAG 0.393 42 135 --- --- --- --- PASS HNRNPA2B1 3181 broad.mit.edu 37 7 26235514 26235514 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:26235514C>A uc003sxr.3 - 8 926 c.710G>T c.(709-711)GGA>GTA p.G237V HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.G225V NM_031243 NP_112533 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 237 Gly-rich. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 AAATCCACGTCCACTGCCATA 0.383 T ETV1 prostate 34 55 --- --- --- --- PASS CPVL 54504 broad.mit.edu 37 7 29126100 29126100 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:29126100C>A uc003szv.2 - 7 728 c.609G>T c.(607-609)GAG>GAT p.E203D CPVL_uc003szw.2_Missense_Mutation_p.E203D|CPVL_uc003szx.2_Missense_Mutation_p.E203D NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 203 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 TTCTACTTACCTCCCCAGTGA 0.294 24 103 --- --- --- --- PASS GGCT 79017 broad.mit.edu 37 7 30544212 30544212 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:30544212C>G uc003tba.2 - 1 241 c.114G>C c.(112-114)GCG>GCC p.A38A GGCT_uc003tbb.2_Silent_p.A38A|GGCT_uc003tbc.2_RNA NM_024051 NP_076956 O75223 GGCT_HUMAN gamma-glutamyl cyclotransferase 38 release of cytochrome c from mitochondria cytosol acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity 0 AGAAGAACGCCGCCGAGGGGT 0.657 37 72 --- --- --- --- PASS GHRHR 2692 broad.mit.edu 37 7 31011577 31011577 + Splice_Site SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:31011577G>T uc003tbx.2 + 6 513 c.465_splice c.e6-1 p.R155_splice GHRHR_uc003tbw.1_Splice_Site_p.R155_splice|GHRHR_uc003tby.2_Splice_Site_p.R91_splice|GHRHR_uc003tbz.2_Splice_Site NM_000823 NP_000814 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding ovary(2)|lung(1)|breast(1)|large_intestine(1) 5 Sermorelin(DB00010) ATTACCCCCAGGAGGCTCCAC 0.463 16 120 --- --- --- --- PASS BMPER 168667 broad.mit.edu 37 7 34014336 34014336 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:34014336G>C uc011kap.1 + 6 630 c.516G>C c.(514-516)CAG>CAC p.Q172H NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 172 VWFC 3. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 AGGGTGTGCAGTATCAAGAAG 0.483 63 109 --- --- --- --- PASS BMPER 168667 broad.mit.edu 37 7 34091578 34091578 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:34091578G>A uc011kap.1 + 8 896 c.782G>A c.(781-783)TGC>TAC p.C261Y NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 261 VWFC 4. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 GCTTGTACCTGCAGGGTAAGG 0.463 50 83 --- --- --- --- PASS BMPER 168667 broad.mit.edu 37 7 34118635 34118635 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:34118635C>T uc011kap.1 + 12 1359 c.1245C>T c.(1243-1245)TTC>TTT p.F415F NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 415 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 CACGCTCCTTCTCGTGGACCA 0.647 75 108 --- --- --- --- PASS AMPH 273 broad.mit.edu 37 7 38424479 38424479 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:38424479G>T uc003tgu.2 - 21 2097 c.2028C>A c.(2026-2028)TAC>TAA p.Y676* AMPH_uc003tgv.2_Nonsense_Mutation_p.Y634*|AMPH_uc003tgt.2_Nonsense_Mutation_p.Y561* NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 676 SH3. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 CAAGGTCTCTGTACTGAAGCC 0.493 28 70 --- --- --- --- PASS INHBA 3624 broad.mit.edu 37 7 41729316 41729316 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:41729316C>T uc003thq.2 - 2 1448 c.1213G>A c.(1213-1215)GAT>AAT p.D405N INHBA_uc003thr.2_Missense_Mutation_p.D405N NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 405 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 TGACCATCATCATAGTACAAC 0.517 TSP Lung(11;0.080) 50 80 --- --- --- --- PASS GLI3 2737 broad.mit.edu 37 7 42005297 42005297 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:42005297C>A uc011kbh.1 - 15 3465 c.3374G>T c.(3373-3375)GGG>GTG p.G1125V GLI3_uc011kbg.1_Missense_Mutation_p.G1066V NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1125 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 GTCACCGGGCCCGTGGGGCAC 0.657 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 28 93 --- --- --- --- PASS ZMIZ2 83637 broad.mit.edu 37 7 44804560 44804560 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:44804560G>T uc003tlr.2 + 15 2072 c.1949G>T c.(1948-1950)GGC>GTC p.G650V ZMIZ2_uc003tlq.2_Missense_Mutation_p.G592V|ZMIZ2_uc003tls.2_Missense_Mutation_p.G624V|ZMIZ2_uc003tlt.2_Missense_Mutation_p.G273V|ZMIZ2_uc010kyj.2_Missense_Mutation_p.G172V|ZMIZ2_uc003tlu.2_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 isoform 1 650 SP-RING-type. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding ovary(2)|large_intestine(2)|breast(1) 5 TTGCTGGAGGGCCTGGAGGTG 0.557 29 64 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48318020 48318020 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:48318020G>T uc003toq.2 + 18 7254 c.7229G>T c.(7228-7230)GGG>GTG p.G2410V ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2410 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CAAGATCTTGGGTCAGCTCTT 0.368 34 63 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48451964 48451964 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:48451964G>T uc003toq.2 + 41 12268 c.12243G>T c.(12241-12243)GAG>GAT p.E4081D ABCA13_uc010kys.1_Missense_Mutation_p.E1155D|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4081 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTGTTCTGGAGGCCCATGATC 0.373 3 9 --- --- --- --- PASS DDC 1644 broad.mit.edu 37 7 50530992 50530992 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:50530992C>A uc003tpf.3 - 14 1466 c.1380G>T c.(1378-1380)GTG>GTT p.V460V DDC_uc010kza.2_Silent_p.V375V|DDC_uc003tpg.3_Silent_p.V460V NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 460 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) AGGCCCGCTGCACATGGGCAG 0.572 5 28 --- --- --- --- PASS POM121L12 285877 broad.mit.edu 37 7 53103778 53103778 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:53103778C>A uc003tpz.2 + 1 430 c.414C>A c.(412-414)ACC>ACA p.T138T NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 138 0 GCCCGGTGACCATCGGGATCG 0.577 19 22 --- --- --- --- PASS VSTM2A 222008 broad.mit.edu 37 7 54617857 54617857 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:54617857C>A uc010kzf.2 + 4 1033 c.628C>A c.(628-630)CAA>AAA p.Q210K VSTM2A_uc010kze.2_Missense_Mutation_p.Q210K|VSTM2A_uc003tqc.3_Missense_Mutation_p.Q210K NM_182546 NP_872352 Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2 210 extracellular region 0 STAD - Stomach adenocarcinoma(5;0.0525) ACAAAGTCCACAATCAGGTAT 0.493 3 5 --- --- --- --- PASS WBSCR28 135886 broad.mit.edu 37 7 73279936 73279936 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:73279936G>T uc003tzk.2 + 3 567 c.531G>T c.(529-531)AAG>AAT p.K177N RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Missense_Mutation_p.K76N NM_182504 NP_872310 Q6UE05 WBS28_HUMAN hypothetical protein LOC135886 177 integral to membrane breast(1) 1 Lung NSC(55;0.159) TGGTAAGGAAGCTCCTGGTAC 0.582 140 198 --- --- --- --- PASS PTPN12 5782 broad.mit.edu 37 7 77210755 77210755 + Nonsense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:77210755C>T uc003ugh.2 + 3 311 c.220C>T c.(220-222)CGA>TGA p.R74* PTPN12_uc011kgp.1_5'UTR|PTPN12_uc011kgq.1_5'UTR|PTPN12_uc010ldq.1_Intron|PTPN12_uc010ldr.1_Intron NM_002835 NP_002826 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 74 Tyrosine-protein phosphatase. soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding ovary(1)|breast(1)|pancreas(1) 3 TGATCACAGCCGAGTTAAATT 0.313 22 97 --- --- --- --- PASS MAGI2 9863 broad.mit.edu 37 7 77814960 77814960 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:77814960C>A uc003ugx.2 - 13 2551 c.2297G>T c.(2296-2298)CGA>CTA p.R766L MAGI2_uc003ugy.2_Intron|MAGI2_uc010ldx.1_Intron|MAGI2_uc010ldy.1_Missense_Mutation_p.R375L NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 766 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GGAATCCATTCGAAAACTGGT 0.353 27 106 --- --- --- --- PASS SEMA3C 10512 broad.mit.edu 37 7 80374286 80374286 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:80374286C>G uc003uhj.2 - 18 2742 c.2180G>C c.(2179-2181)GGG>GCG p.G727A SEMA3C_uc011kgw.1_Missense_Mutation_p.G745A NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 727 Arg/Lys-rich (basic). immune response|response to drug membrane receptor activity ovary(1) 1 GCCATAGTCCCCTCTCATTTT 0.433 92 110 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82538238 82538238 + Silent SNP C G G rs78925303 by1000genomes TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:82538238C>G uc003uhx.2 - 8 13681 c.13392G>C c.(13390-13392)CCG>CCC p.P4464P PCLO_uc003uhv.2_Silent_p.P4464P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4395 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CCAATCTTTCCGGCAGTTTTC 0.413 41 77 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82544515 82544515 + Missense_Mutation SNP C T T rs61995909 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:82544515C>T uc003uhx.2 - 7 13076 c.12787G>A c.(12787-12789)GGA>AGA p.G4263R PCLO_uc003uhv.2_Missense_Mutation_p.G4263R|PCLO_uc010lec.2_Missense_Mutation_p.G1228R NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4194 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GTGCCCAGTCCTGTGCCAAGA 0.408 4 31 --- --- --- --- PASS SEMA3A 10371 broad.mit.edu 37 7 83590949 83590949 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:83590949C>A uc003uhz.2 - 17 2369 c.2054G>T c.(2053-2055)GGC>GTC p.G685V NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 685 axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 GGTCTTAGAGCCATCTCCATC 0.433 63 123 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86416245 86416245 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:86416245C>G uc003uid.2 + 3 2236 c.1137C>G c.(1135-1137)ATC>ATG p.I379M GRM3_uc010lef.2_Missense_Mutation_p.I377M|GRM3_uc010leg.2_Missense_Mutation_p.I251M|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 379 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ACCTGGCCATCGACAGCAGCA 0.567 30 83 --- --- --- --- PASS RUNDC3B 154661 broad.mit.edu 37 7 87370833 87370833 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:87370833G>T uc003ujb.2 + 7 1029 c.618G>T c.(616-618)GAG>GAT p.E206D RUNDC3B_uc011khd.1_Missense_Mutation_p.E189D|RUNDC3B_uc011khe.1_Missense_Mutation_p.E189D|RUNDC3B_uc003ujc.2_Missense_Mutation_p.E189D|RUNDC3B_uc003ujd.2_Missense_Mutation_p.E111D NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 206 RUN. skin(1) 1 Esophageal squamous(14;0.00164) TAAAGGGAGAGGGGCTGGATG 0.279 25 39 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88964054 88964054 + Silent SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:88964054A>G uc011khi.1 + 4 2296 c.1758A>G c.(1756-1758)ACA>ACG p.T586T NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 586 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) ACCTCAACACATCTCTAAAGG 0.383 HNSCC(36;0.09) 35 72 --- --- --- --- PASS CDK14 5218 broad.mit.edu 37 7 90613556 90613556 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:90613556G>T uc003uky.2 + 10 1263 c.1041G>T c.(1039-1041)CTG>CTT p.L347L CDK14_uc003ukz.1_Silent_p.L329L|CDK14_uc010les.1_Silent_p.L301L|CDK14_uc011khl.1_Silent_p.L218L NM_012395 NP_036527 O94921 CDK14_HUMAN PFTAIRE protein kinase 1 347 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity lung(3)|ovary(1) 4 GAATATTTCTGGTAAGTCCTT 0.343 47 146 --- --- --- --- PASS KRIT1 889 broad.mit.edu 37 7 91867069 91867069 + Silent SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:91867069T>C uc003ulq.1 - 4 438 c.267A>G c.(265-267)AAA>AAG p.K89K KRIT1_uc010lev.1_5'UTR|KRIT1_uc003ulr.1_Silent_p.K89K|KRIT1_uc003uls.1_Silent_p.K89K|KRIT1_uc003ult.1_Silent_p.K89K|KRIT1_uc003ulu.1_Silent_p.K89K|KRIT1_uc003ulv.1_Silent_p.K89K NM_194456 NP_919438 O00522 KRIT1_HUMAN krev interaction trapped 1 isoform 1 89 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity ovary(2)|lung(1) 3 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GTACAACTCGTTTTCCTAATC 0.289 Familial_Cerebral_Cavernous_Angioma 15 70 --- --- --- --- PASS HEPACAM2 253012 broad.mit.edu 37 7 92848547 92848547 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:92848547G>T uc003umm.2 - 2 320 c.297C>A c.(295-297)ACC>ACA p.T99T HEPACAM2_uc003uml.2_Silent_p.T87T|HEPACAM2_uc010lff.2_Silent_p.T87T|HEPACAM2_uc011khy.1_Silent_p.T122T NM_001039372 NP_001034461 A8MVW5 HECA2_HUMAN HEPACAM family member 2 isoform 1 99 Extracellular (Potential). integral to membrane ovary(3)|breast(1)|kidney(1) 5 GTGGCATCATGGTGAACTTGT 0.448 47 51 --- --- --- --- PASS SLC25A13 10165 broad.mit.edu 37 7 95775920 95775920 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:95775920C>A uc003uof.3 - 14 1591 c.1400G>T c.(1399-1401)CGA>CTA p.R467L SLC25A13_uc003uog.3_Missense_Mutation_p.R468L|SLC25A13_uc011kik.1_Missense_Mutation_p.R359L NM_014251 NP_055066 Q9UJS0 CMC2_HUMAN solute carrier family 25, member 13 isoform 2 467 Solcar 2. ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity central_nervous_system(3)|skin(1) 4 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) AGCACTGACTCGAGGACCAGT 0.423 92 193 --- --- --- --- PASS DLX5 1749 broad.mit.edu 37 7 96650126 96650126 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:96650126G>T uc003uon.2 - 3 1000 c.792C>A c.(790-792)GCC>GCA p.A264A NM_005221 NP_005212 P56178 DLX5_HUMAN distal-less homeobox 5 264 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) TGATTGAGCTGGCTGCACTTG 0.622 31 43 --- --- --- --- PASS CYP3A43 64816 broad.mit.edu 37 7 99459374 99459374 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:99459374C>A uc003urx.1 + 11 1268 c.1165C>A c.(1165-1167)CCC>ACC p.P389T CYP3A43_uc003ury.1_Missense_Mutation_p.P389T|CYP3A43_uc003urz.1_Missense_Mutation_p.P389T|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Missense_Mutation_p.P279T|CYP3A43_uc003usb.1_Missense_Mutation_p.P249T NM_057095 NP_476436 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, 389 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) AGTGTTCATTCCCAAAGGGTT 0.453 61 95 --- --- --- --- PASS ZNF3 7551 broad.mit.edu 37 7 99668855 99668855 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:99668855G>T uc003usq.2 - 6 1559 c.1252C>A c.(1252-1254)CAC>AAC p.H418N ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Missense_Mutation_p.H418N|ZNF3_uc010lgj.2_Missense_Mutation_p.H382N|ZNF3_uc003uss.2_Missense_Mutation_p.H425N|ZNF3_uc003ust.3_Missense_Mutation_p.H418N NM_032924 NP_116313 P17036 ZNF3_HUMAN zinc finger protein 3 isoform 2 418 C2H2-type 8. cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) TCTCCAGTGTGAATTCTCTGA 0.498 90 108 --- --- --- --- PASS AP4M1 9179 broad.mit.edu 37 7 99701305 99701305 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:99701305G>C uc003utb.3 + 6 741 c.533G>C c.(532-534)CGC>CCC p.R178P MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Missense_Mutation_p.R132P|AP4M1_uc010lgl.1_Missense_Mutation_p.R178P|AP4M1_uc003utc.3_Missense_Mutation_p.R185P|AP4M1_uc010lgm.2_Missense_Mutation_p.R50P|AP4M1_uc003utd.2_Missense_Mutation_p.R178P|AP4M1_uc011kjh.1_Missense_Mutation_p.R130P|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_Missense_Mutation_p.R50P NM_004722 NP_004713 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 178 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTGTCCAGTCGCTCTGACCAG 0.498 48 139 --- --- --- --- PASS GAL3ST4 79690 broad.mit.edu 37 7 99757738 99757738 + Missense_Mutation SNP C T T rs139840294 by1000genomes TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:99757738C>T uc003utt.2 - 3 2291 c.1274G>A c.(1273-1275)CGC>CAC p.R425H C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R425H|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R363H NM_024637 NP_078913 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 425 Lumenal (Potential). cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(3) 3 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTGGAAGGGGCGGAACCGGCG 0.582 25 98 --- --- --- --- PASS C7orf47 221908 broad.mit.edu 37 7 100033915 100033915 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:100033915G>T uc003uuy.1 - 1 180 c.83C>A c.(82-84)CCC>CAC p.P28H C7orf47_uc003uux.1_5'UTR NM_145030 NP_659467 Q8TAP8 CG047_HUMAN hypothetical protein LOC221908 28 Pro-rich. ovary(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CGGGACTTGGGGCTCCGGGGG 0.682 9 14 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100358100 100358100 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:100358100G>T uc003uwj.2 + 19 3948 c.3783G>T c.(3781-3783)ACG>ACT p.T1261T ZAN_uc003uwk.2_Silent_p.T1261T|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_5'Flank NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1261 VWFD 1.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGCTGCAGACGGAGTTCGGTT 0.592 29 77 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100676657 100676657 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:100676657G>C uc003uxp.1 + 3 2013 c.1960G>C c.(1960-1962)GTT>CTT p.V654L MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 654 Extracellular (Potential).|8.|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) AACAACTCCTGTTGACTCCAA 0.473 93 220 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100677014 100677014 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:100677014G>A uc003uxp.1 + 3 2370 c.2317G>A c.(2317-2319)GAC>AAC p.D773N MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 773 Extracellular (Potential).|Ser-rich.|10.|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) AACTCCTCTTGACACAAGCAC 0.478 93 221 --- --- --- --- PASS C7orf52 375607 broad.mit.edu 37 7 100815508 100815508 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:100815508G>T uc003uxy.1 - 4 1201 c.962C>A c.(961-963)GCC>GAC p.A321D C7orf52_uc003uxz.1_Missense_Mutation_p.A321D NM_198571 NP_940973 Q8N8M0 CG052_HUMAN hypothetical protein LOC375607 321 N-acetyltransferase activity ovary(1) 1 Lung NSC(181;0.168)|all_lung(186;0.215) GAGGCGCGGGGCCTGGCGCTG 0.672 6 24 --- --- --- --- PASS CUX1 1523 broad.mit.edu 37 7 101801838 101801838 + Splice_Site SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:101801838A>G uc003uyx.3 + 9 713 c.675_splice c.e9-2 p.K225_splice CUX1_uc003uys.3_Splice_Site_p.K236_splice|CUX1_uc003uyt.2_Splice_Site_p.K236_splice|CUX1_uc011kkn.1_Splice_Site_p.K199_splice|CUX1_uc003uyw.2_Splice_Site_p.K190_splice|CUX1_uc003uyv.2_Splice_Site_p.K220_splice|CUX1_uc003uyu.2_Splice_Site_p.K236_splice NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 TCACCCTCCTAGGGCCGACGA 0.572 20 54 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103207056 103207056 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:103207056G>A uc003vca.2 - 32 4899 c.4739C>T c.(4738-4740)CCG>CTG p.P1580L RELN_uc010liz.2_Missense_Mutation_p.P1580L NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1580 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) ACCATGTTGCGGTTGCCACCA 0.483 32 57 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106509447 106509447 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:106509447G>T uc003vdv.3 + 2 1526 c.1441G>T c.(1441-1443)GTC>TTC p.V481F PIK3CG_uc003vdu.2_Missense_Mutation_p.V481F|PIK3CG_uc003vdw.2_Missense_Mutation_p.V481F NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 481 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 TGGAGAATACGTCCTCCACAT 0.502 24 99 --- --- --- --- PASS SLC26A3 1811 broad.mit.edu 37 7 107418651 107418651 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:107418651G>T uc003ver.2 - 13 1694 c.1483C>A c.(1483-1485)CAA>AAA p.Q495K SLC26A3_uc003ves.2_Missense_Mutation_p.Q460K NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 495 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 GTTAGCAGTTGAAATGCCACA 0.468 7 18 --- --- --- --- PASS PNPLA8 50640 broad.mit.edu 37 7 108142935 108142935 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:108142935C>A uc003vff.1 - 6 1765 c.1358G>T c.(1357-1359)AGG>ATG p.R453M PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.R453M|PNPLA8_uc003vfi.1_Missense_Mutation_p.R353M|PNPLA8_uc003vfj.1_Missense_Mutation_p.R453M|PNPLA8_uc003vfk.1_Missense_Mutation_p.R353M NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 453 Patatin. fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(2) 2 CTAGCCTTACCTTGTTCCTCC 0.269 18 55 --- --- --- --- PASS DOCK4 9732 broad.mit.edu 37 7 111508203 111508203 + Missense_Mutation SNP T G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:111508203T>G uc003vfx.2 - 22 2386 c.2117A>C c.(2116-2118)GAA>GCA p.E706A DOCK4_uc003vfw.2_Missense_Mutation_p.E147A|DOCK4_uc003vfy.2_Missense_Mutation_p.E706A|DOCK4_uc003vga.1_Missense_Mutation_p.E311A NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 706 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) AAAAATGTATTCTTGTGCCTT 0.378 6 34 --- --- --- --- PASS CTTNBP2 83992 broad.mit.edu 37 7 117432359 117432359 + Silent SNP T G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:117432359T>G uc003vjf.2 - 4 983 c.891A>C c.(889-891)ACA>ACC p.T297T NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 297 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) CAGTTCCTTCTGTTCCCACAG 0.443 30 142 --- --- --- --- PASS KCND2 3751 broad.mit.edu 37 7 119915167 119915167 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:119915167G>C uc003vjj.1 + 1 1446 c.481G>C c.(481-483)GCC>CCC p.A161P NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 161 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) TGGGGAGAGCGCCTTGCCCAC 0.607 21 64 --- --- --- --- PASS AASS 10157 broad.mit.edu 37 7 121738556 121738556 + Nonsense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:121738556T>A uc003vka.2 - 14 1699 c.1603A>T c.(1603-1605)AAA>TAA p.K535* AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Nonsense_Mutation_p.K535*|AASS_uc011knw.1_Nonsense_Mutation_p.K23* NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 535 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) TCTTCTTGTTTACAAATGTCC 0.333 11 51 --- --- --- --- PASS AASS 10157 broad.mit.edu 37 7 121738574 121738574 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:121738574C>A uc003vka.2 - 14 1681 c.1585G>T c.(1585-1587)GTT>TTT p.V529F AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.V529F|AASS_uc011knw.1_Missense_Mutation_p.V17F NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 529 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) TCCATGCTAACAGGATTAATA 0.343 14 38 --- --- --- --- PASS AASS 10157 broad.mit.edu 37 7 121773664 121773664 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:121773664C>A uc003vka.2 - 1 213 c.117G>T c.(115-117)AGG>AGT p.R39S AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.R39S|AASS_uc011knw.1_Intron NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 39 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) CTAGCGGGGCCCTTCTCTCCC 0.577 38 82 --- --- --- --- PASS RNF148 378925 broad.mit.edu 37 7 122342063 122342063 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:122342063C>T uc003vkk.1 - 1 959 c.742G>A c.(742-744)GAT>AAT p.D248N CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF133_uc003vkj.1_5'Flank|RNF148_uc010lkr.1_3'UTR NM_198085 NP_932351 Q8N7C7 RN148_HUMAN ring finger protein 148 precursor 248 integral to membrane zinc ion binding 0 AATTCCTCATCCCCTTCTTTG 0.403 7 36 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 124116644 124116644 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:124116644G>C uc011kod.1 + 1 220 c.220G>C c.(220-222)GAA>CAA p.E74Q NM_001085395 NP_001078864 RecName: Full=Putative RNA polymerase II subunit A C-terminal domain phosphatase SSU72-like protein 2; Short=CTD phosphatase SSU72-like protein 2; EC=3.1.3.16; GAAAGATAGAGAATGCTACAC 0.418 40 111 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126173635 126173635 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:126173635C>G uc003vlr.2 - 8 2112 c.1801G>C c.(1801-1803)GTG>CTG p.V601L GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.V601L|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 601 Helical; Name=1; (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) GTCACGATCACAAAGGTGGTG 0.493 HNSCC(24;0.065) 21 40 --- --- --- --- PASS PAX4 5078 broad.mit.edu 37 7 127253566 127253566 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:127253566G>T uc010lld.1 - 5 765 c.559C>A c.(559-561)CCT>ACT p.P187T PAX4_uc003vmf.2_Missense_Mutation_p.P185T|PAX4_uc003vmg.1_Missense_Mutation_p.P187T|PAX4_uc003vmh.2_Missense_Mutation_p.P185T NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 195 Homeobox. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 ACTGAATCAGGATACTGCCCA 0.582 21 77 --- --- --- --- PASS FAM40B 57464 broad.mit.edu 37 7 129091497 129091497 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:129091497G>T uc011koy.1 + 4 358 c.318G>T c.(316-318)AAG>AAT p.K106N FAM40B_uc003vow.2_Missense_Mutation_p.K106N NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 106 0 ATGCCCAAAAGGCCTATATAA 0.547 28 43 --- --- --- --- PASS FAM40B 57464 broad.mit.edu 37 7 129093116 129093116 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:129093116G>T uc011koy.1 + 5 498 c.458G>T c.(457-459)AGG>ATG p.R153M FAM40B_uc003vow.2_Missense_Mutation_p.R153M NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 153 0 CACTGGTCCAGGTACAACTGC 0.522 23 68 --- --- --- --- PASS NUP205 23165 broad.mit.edu 37 7 135261844 135261844 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:135261844A>G uc003vsw.2 + 5 647 c.616A>G c.(616-618)AGA>GGA p.R206G NUP205_uc011kqa.1_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 206 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 ACAGCGAGAGAGAGGTTTGGG 0.403 22 64 --- --- --- --- PASS NUP205 23165 broad.mit.edu 37 7 135312824 135312824 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:135312824T>C uc003vsw.2 + 34 4928 c.4897T>C c.(4897-4899)TCT>CCT p.S1633P NUP205_uc003vsx.2_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1633 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 CATCCTCACATCTAGTATGGC 0.433 54 132 --- --- --- --- PASS CHRM2 1129 broad.mit.edu 37 7 136700561 136700561 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:136700561G>T uc003vtf.1 + 4 1572 c.949G>T c.(949-951)GAT>TAT p.D317Y CHRM2_uc003vtg.1_Missense_Mutation_p.D317Y|CHRM2_uc003vtj.1_Missense_Mutation_p.D317Y|CHRM2_uc003vtk.1_Missense_Mutation_p.D317Y|CHRM2_uc003vtl.1_Missense_Mutation_p.D317Y|CHRM2_uc003vtm.1_Missense_Mutation_p.D317Y|CHRM2_uc003vti.1_Missense_Mutation_p.D317Y|CHRM2_uc003vto.1_Missense_Mutation_p.D317Y|CHRM2_uc003vtn.1_Missense_Mutation_p.D317Y|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 317 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CCATTCCAAAGATGAGAACTC 0.463 17 80 --- --- --- --- PASS DGKI 9162 broad.mit.edu 37 7 137206685 137206685 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:137206685C>G uc003vtt.2 - 21 2176 c.2175G>C c.(2173-2175)AGG>AGC p.R725S DGKI_uc003vtu.2_Missense_Mutation_p.R425S NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 725 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 TCACCCGGATCCTCAGACGAT 0.453 15 51 --- --- --- --- PASS JHDM1D 80853 broad.mit.edu 37 7 139826556 139826556 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:139826556C>G uc003vvm.2 - 6 773 c.769G>C c.(769-771)GAT>CAT p.D257H NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 257 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) ACTGAATCATCTGGCCAATAA 0.403 32 83 --- --- --- --- PASS WEE2 494551 broad.mit.edu 37 7 141420746 141420746 + Nonsense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:141420746T>A uc003vwn.2 + 5 1176 c.770T>A c.(769-771)TTG>TAG p.L257* FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 257 Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) AATTCGGCTTTGCATGAAGTT 0.393 59 166 --- --- --- --- PASS MGAM 8972 broad.mit.edu 37 7 141736022 141736022 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:141736022G>A uc003vwy.2 + 17 2067 c.2013G>A c.(2011-2013)AGG>AGA p.R671R NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 671 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGCTCTGTAGGCGGTGGATGC 0.478 15 14 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 142510429 142510429 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:142510429C>A uc003wbp.2 - 2 289 c.177G>T c.(175-177)AGG>AGT p.R59S SubName: Full=V_segment translation product; Flags: Fragment; GCTGGAGGCCCCTGCCTGCAG 0.612 10 16 --- --- --- --- PASS OR2F2 135948 broad.mit.edu 37 7 143632509 143632509 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:143632509T>C uc011ktv.1 + 1 184 c.184T>C c.(184-186)TTT>CTT p.F62L NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 62 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) CATGTATTTCTTTCTCACCAA 0.502 97 248 --- --- --- --- PASS OR6B1 135946 broad.mit.edu 37 7 143701517 143701517 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:143701517G>T uc003wdt.1 + 1 428 c.428G>T c.(427-429)CGC>CTC p.R143L NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) CTCTGCTTCCGCCTCGCTCTT 0.562 20 48 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147600693 147600693 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:147600693A>T uc003weu.1 + 14 2651 c.2135A>T c.(2134-2136)AAC>ATC p.N712I NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 712 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGCAAAGCCAACGAGAAGCAC 0.498 HNSCC(39;0.1) 16 40 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147600694 147600694 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:147600694C>A uc003weu.1 + 14 2652 c.2136C>A c.(2134-2136)AAC>AAA p.N712K NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 712 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GCAAAGCCAACGAGAAGCACT 0.502 HNSCC(39;0.1) 16 40 --- --- --- --- PASS ZNF425 155054 broad.mit.edu 37 7 148801268 148801268 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:148801268C>A uc003wfj.2 - 4 1768 c.1695G>T c.(1693-1695)TGG>TGT p.W565C NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 565 C2H2-type 13. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGGAGGCCTTCCAGGAGAAGC 0.617 18 30 --- --- --- --- PASS ZNF425 155054 broad.mit.edu 37 7 148801269 148801269 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:148801269C>A uc003wfj.2 - 4 1767 c.1694G>T c.(1693-1695)TGG>TTG p.W565L NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 565 C2H2-type 13. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GGAGGCCTTCCAGGAGAAGCT 0.617 18 29 --- --- --- --- PASS ZNF282 8427 broad.mit.edu 37 7 148921516 148921516 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:148921516G>C uc003wfm.2 + 8 1898 c.1793G>C c.(1792-1794)GGC>GCC p.G598A ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.2_3'UTR NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN zinc finger protein 282 598 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CTGCACACGGGCGAGCGGCCT 0.642 7 24 --- --- --- --- PASS GIMAP8 155038 broad.mit.edu 37 7 150174527 150174527 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:150174527G>C uc003whj.2 + 5 1987 c.1657G>C c.(1657-1659)GGA>CGA p.G553R NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 553 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GGCCATCTTTGGAGCAGACTT 0.483 28 93 --- --- --- --- PASS GIMAP7 168537 broad.mit.edu 37 7 150217668 150217668 + Silent SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:150217668T>A uc003whk.2 + 2 736 c.606T>A c.(604-606)TCT>TCA p.S202S NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 202 GTP binding pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTTACTTTTCTGATGACATAT 0.418 22 56 --- --- --- --- PASS DLGAP2 9228 broad.mit.edu 37 8 1514000 1514000 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:1514000C>A uc003wpl.2 + 3 1239 c.1142C>A c.(1141-1143)GCA>GAA p.A381E DLGAP2_uc003wpm.2_Missense_Mutation_p.A381E NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 460 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCAAAGTCGGCAATCCTACCA 0.557 6 12 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3087562 3087562 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:3087562C>A uc011kwk.1 - 27 4738 c.4348G>T c.(4348-4350)GCT>TCT p.A1450S CSMD1_uc011kwj.1_Missense_Mutation_p.A842S|CSMD1_uc003wqe.2_Missense_Mutation_p.A606S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1450 Extracellular (Potential).|Sushi 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGTCTGATACCTATGCATGTA 0.418 11 32 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10466885 10466885 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:10466885C>T uc003wtc.2 - 4 4952 c.4723G>A c.(4723-4725)GAG>AAG p.E1575K NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1575 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TTCTGGAGCTCTCTCTTGGTG 0.677 4 10 --- --- --- --- PASS SGCZ 137868 broad.mit.edu 37 8 14022118 14022118 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:14022118G>T uc003wwq.2 - 5 1178 c.518C>A c.(517-519)ACC>AAC p.T173N SGCZ_uc010lss.2_Missense_Mutation_p.T126N NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 160 Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) AGCCCCAATGGTAATCTCATC 0.413 20 38 --- --- --- --- PASS MTUS1 57509 broad.mit.edu 37 8 17541903 17541903 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:17541903C>A uc003wxv.2 - 7 3246 c.2772G>T c.(2770-2772)CAG>CAT p.Q924H MTUS1_uc003wxt.2_Missense_Mutation_p.Q171H|MTUS1_uc011kyg.1_Missense_Mutation_p.Q69H|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.Q870H|MTUS1_uc003wxs.2_Missense_Mutation_p.Q90H|hsa-mir-548v|MI0014174_5'Flank NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 924 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) AGGCAAGAAGCTGCTTGAGCT 0.458 45 92 --- --- --- --- PASS BMP1 649 broad.mit.edu 37 8 22049654 22049654 + Silent SNP G T T rs76021885 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:22049654G>T uc003xbg.2 + 9 1414 c.1170G>T c.(1168-1170)GCG>GCT p.A390A BMP1_uc003xba.2_Silent_p.A390A|BMP1_uc003xbb.2_Silent_p.A390A|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.A139A|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.A139A|BMP1_uc011kzc.1_Silent_p.A139A|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA NM_006129 NP_006120 P13497 BMP1_HUMAN bone morphogenetic protein 1 isoform 3 390 CUB 1. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding ovary(2)|breast(1) 3 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) GGAGGAAGGCGCCCCTCCGAG 0.622 12 25 --- --- --- --- PASS ADAM7 8756 broad.mit.edu 37 8 24324400 24324400 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:24324400C>T uc003xeb.2 + 6 591 c.478C>T c.(478-480)CTG>TTG p.L160L ADAM7_uc003xea.1_Silent_p.L160L NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 160 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CAAATATAACCTGAGGGTGCC 0.383 37 70 --- --- --- --- PASS CDCA2 157313 broad.mit.edu 37 8 25364168 25364168 + Silent SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:25364168T>C uc003xep.1 + 15 2465 c.1986T>C c.(1984-1986)TAT>TAC p.Y662Y PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Silent_p.Y647Y|CDCA2_uc003xer.1_Silent_p.Y325Y NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 662 Y -> D (in Ref. 4; BG354575). cell division|mitosis cytoplasm|nucleus 0 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) TCTGCTCTTATATAAAAAGTT 0.313 40 56 --- --- --- --- PASS ADRA1A 148 broad.mit.edu 37 8 26627827 26627827 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:26627827T>C uc003xfh.1 - 2 1676 c.1240A>G c.(1240-1242)AAA>GAA p.K414E ADRA1A_uc003xfc.1_Missense_Mutation_p.K414E|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.K414E|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.K414E NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 414 Cytoplasmic (By similarity). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) GATTGGTCTTTGGACACTGTA 0.507 41 70 --- --- --- --- PASS TEX15 56154 broad.mit.edu 37 8 30700887 30700887 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:30700887C>A uc003xil.2 - 1 5647 c.5647G>T c.(5647-5649)GGT>TGT p.G1883C NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1883 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TGTTCCAGACCATAAAGAGAT 0.343 56 110 --- --- --- --- PASS TEX15 56154 broad.mit.edu 37 8 30703577 30703577 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:30703577G>C uc003xil.2 - 1 2957 c.2957C>G c.(2956-2958)TCT>TGT p.S986C NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 986 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTTACATAAAGATGCTTCATC 0.338 48 98 --- --- --- --- PASS KCNU1 157855 broad.mit.edu 37 8 36788571 36788571 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:36788571G>T uc010lvw.2 + 25 2926 c.2839G>T c.(2839-2841)GTG>TTG p.V947L KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 947 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) AGTCTATGGTGTGGCAGATAG 0.443 35 48 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52322096 52322096 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:52322096G>A uc003xqu.3 - 17 2189 c.2088C>T c.(2086-2088)TCC>TCT p.S696S PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 696 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGGAGCGCGGGGACACCAAGT 0.612 9 35 --- --- --- --- PASS ST18 9705 broad.mit.edu 37 8 53076624 53076624 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:53076624G>T uc003xqz.2 - 8 1478 c.1322C>A c.(1321-1323)GCT>GAT p.A441D ST18_uc011ldq.1_Missense_Mutation_p.A88D|ST18_uc011ldr.1_Missense_Mutation_p.A406D|ST18_uc011lds.1_Missense_Mutation_p.A346D|ST18_uc003xra.2_Missense_Mutation_p.A441D|ST18_uc003xrb.2_Missense_Mutation_p.A441D NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 441 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CAATTTTTCAGCTGCAGCAAT 0.418 48 59 --- --- --- --- PASS ST18 9705 broad.mit.edu 37 8 53092721 53092721 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:53092721C>T uc003xqz.2 - 4 394 c.238G>A c.(238-240)GAC>AAC p.D80N ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.D45N|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Missense_Mutation_p.D80N|ST18_uc003xrb.2_Missense_Mutation_p.D80N|ST18_uc010lyb.2_RNA NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 80 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GGGCCATCGTCCTCTGTCCTG 0.532 111 172 --- --- --- --- PASS TRIM55 84675 broad.mit.edu 37 8 67064773 67064773 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:67064773G>T uc003xvv.2 + 8 1373 c.1147G>T c.(1147-1149)GAG>TAG p.E383* TRIM55_uc003xvu.2_Nonsense_Mutation_p.E383*|TRIM55_uc003xvw.2_Nonsense_Mutation_p.E383*|TRIM55_uc003xvx.2_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 383 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CTCTCAGGTGGAGCTGCAGGC 0.473 25 55 --- --- --- --- PASS TRIM55 84675 broad.mit.edu 37 8 67064781 67064781 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:67064781G>T uc003xvv.2 + 8 1381 c.1155G>T c.(1153-1155)CAG>CAT p.Q385H TRIM55_uc003xvu.2_Missense_Mutation_p.Q385H|TRIM55_uc003xvw.2_Missense_Mutation_p.Q385H|TRIM55_uc003xvx.2_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 385 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) TGGAGCTGCAGGCTGCCCCTG 0.493 24 63 --- --- --- --- PASS MSC 9242 broad.mit.edu 37 8 72755880 72755880 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:72755880C>T uc003xyx.1 - 1 852 c.534G>A c.(532-534)CTG>CTA p.L178L uc011lff.1_RNA|uc003xyy.2_5'Flank NM_005098 NP_005089 O60682 MUSC_HUMAN musculin 178 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) GCGCCCCTACCAGGTTCACTG 0.647 OREG0018826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 46 --- --- --- --- PASS KCNB2 9312 broad.mit.edu 37 8 73479991 73479991 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:73479991G>T uc003xzb.2 + 2 610 c.22G>T c.(22-24)GGC>TGC p.G8C NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 8 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) GGCTCCCCCGGGCTTAAACAG 0.498 32 144 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77764403 77764403 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:77764403G>T uc003yav.2 + 10 5498 c.5111G>T c.(5110-5112)AGC>ATC p.S1704I ZFHX4_uc003yau.1_Missense_Mutation_p.S1749I|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1704I NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1704 Gln-rich. 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) ACGGAGTTCAGCTTGGGGCCA 0.512 HNSCC(33;0.089) 12 66 --- --- --- --- PASS SLC10A5 347051 broad.mit.edu 37 8 82606632 82606632 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:82606632C>T uc011lfs.1 - 1 576 c.576G>A c.(574-576)GGG>GGA p.G192G NM_001010893 NP_001010893 Q5PT55 NTCP5_HUMAN solute carrier family 10 (sodium/bile acid 192 Helical; (Potential). integral to membrane bile acid:sodium symporter activity 0 ACAAAAGAAACCCGCAAAATG 0.468 38 186 --- --- --- --- PASS ATP6V0D2 245972 broad.mit.edu 37 8 87153719 87153719 + Missense_Mutation SNP T G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:87153719T>G uc003ydp.1 + 4 591 c.522T>G c.(520-522)GAT>GAG p.D174E NM_152565 NP_689778 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 174 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding 0 ATGCTCTAGATGAACTGAATA 0.333 40 102 --- --- --- --- PASS SLC7A13 157724 broad.mit.edu 37 8 87229835 87229835 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:87229835G>T uc003ydq.1 - 3 1141 c.1043C>A c.(1042-1044)TCC>TAC p.S348Y SLC7A13_uc003ydr.1_Missense_Mutation_p.S339Y NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 348 Helical; Name=9; (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 AATTGCAAGGGATCCCAAAGT 0.358 40 141 --- --- --- --- PASS SLC7A13 157724 broad.mit.edu 37 8 87235208 87235208 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:87235208G>T uc003ydq.1 - 2 908 c.810C>A c.(808-810)CTC>CTA p.L270L SLC7A13_uc003ydr.1_Silent_p.L261L NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 270 Extracellular (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 AACCTGAAGAGAGAATTTCCC 0.383 72 110 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89053926 89053926 + Missense_Mutation SNP A C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:89053926A>C uc003yeb.3 - 10 1869 c.1587T>G c.(1585-1587)TTT>TTG p.F529L NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 529 Hemopexin-like 4.|Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 CACAGCCCATAAAATCCTTGA 0.428 47 71 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89128775 89128775 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:89128775G>A uc003yeb.3 - 6 1326 c.1044C>T c.(1042-1044)AAC>AAT p.N348N MMP16_uc003yec.2_Silent_p.N348N NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 348 Extracellular (Potential).|Hemopexin-like 1. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 TAGCTAGAGTGTTAAAGTTCC 0.443 14 89 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89128850 89128850 + Silent SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:89128850T>A uc003yeb.3 - 6 1251 c.969A>T c.(967-969)CCA>CCT p.P323P MMP16_uc003yec.2_Silent_p.P323P NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 323 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 GAGGAGGTTTTGGCCTGTCAT 0.542 52 194 --- --- --- --- PASS SLC26A7 115111 broad.mit.edu 37 8 92406201 92406201 + Silent SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:92406201A>G uc003yex.2 + 19 2147 c.1869A>G c.(1867-1869)CTA>CTG p.L623L SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.L623L|SLC26A7_uc003yfa.2_Silent_p.L623L NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 623 STAS.|Cytoplasmic (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) ATGGAAACCTAGACTCAGAGA 0.348 60 103 --- --- --- --- PASS OSR2 116039 broad.mit.edu 37 8 99961435 99961435 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:99961435C>G uc003yir.2 + 2 790 c.255C>G c.(253-255)TTC>TTG p.F85L OSR2_uc010mbn.2_Missense_Mutation_p.F85L|OSR2_uc003yiq.2_Missense_Mutation_p.F85L|OSR2_uc011lgx.1_Missense_Mutation_p.F206L NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN odd-skipped related 2 isoform a 85 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding central_nervous_system(1) 1 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) GCTTCCCCTTCCCGGCCCTGC 0.657 59 94 --- --- --- --- PASS OSR2 116039 broad.mit.edu 37 8 99963899 99963899 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:99963899C>A uc003yir.2 + 4 1444 c.909C>A c.(907-909)AGC>AGA p.S303R OSR2_uc003yiq.2_Missense_Mutation_p.A276D|OSR2_uc011lgx.1_Missense_Mutation_p.S424R NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN odd-skipped related 2 isoform a 303 C2H2-type 5; degenerate. bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding central_nervous_system(1) 1 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) GGCGGCACAGCCTGACTCACA 0.602 6 31 --- --- --- --- PASS UBR5 51366 broad.mit.edu 37 8 103324640 103324640 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:103324640C>A uc003ykr.1 - 17 2114 c.2081G>T c.(2080-2082)AGC>ATC p.S694I UBR5_uc003yks.1_Missense_Mutation_p.S694I NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 694 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TGGACCAGAGCTGTTCTGACA 0.408 64 87 --- --- --- --- PASS EBAG9 9166 broad.mit.edu 37 8 110569170 110569170 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:110569170A>T uc003ynf.2 + 5 563 c.328A>T c.(328-330)ATT>TTT p.I110F EBAG9_uc010mcn.1_RNA|EBAG9_uc003yng.2_Missense_Mutation_p.I110F NM_198120 NP_936056 O00559 RCAS1_HUMAN estrogen receptor binding site associated 110 Cytoplasmic (Potential). apoptosis|regulation of cell growth focal adhesion|Golgi membrane|integral to membrane|soluble fraction apoptotic protease activator activity 0 OV - Ovarian serous cystadenocarcinoma(57;1.39e-14) TCAGATTGTTATTAAGAAGAG 0.308 24 56 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113332171 113332171 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:113332171G>T uc003ynu.2 - 46 7364 c.7205C>A c.(7204-7206)CCC>CAC p.P2402H CSMD3_uc003yns.2_Missense_Mutation_p.P1604H|CSMD3_uc003ynt.2_Missense_Mutation_p.P2362H|CSMD3_uc011lhx.1_Missense_Mutation_p.P2298H|CSMD3_uc003ynw.1_Missense_Mutation_p.P113H NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2402 Extracellular (Potential).|Sushi 13. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTCAGCATTGGGCACAGGTGG 0.363 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 176 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113353715 113353715 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:113353715C>A uc003ynu.2 - 42 6802 c.6643G>T c.(6643-6645)GTA>TTA p.V2215L CSMD3_uc003yns.2_Missense_Mutation_p.V1417L|CSMD3_uc003ynt.2_Missense_Mutation_p.V2175L|CSMD3_uc011lhx.1_Missense_Mutation_p.V2111L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2215 Extracellular (Potential).|CUB 12. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCTTGGTATACAATATGAAAC 0.299 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 81 --- --- --- --- PASS TNFRSF11B 4982 broad.mit.edu 37 8 119936778 119936778 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:119936778G>A uc003yon.3 - 5 1364 c.1041C>T c.(1039-1041)CAC>CAT p.H347H NM_002546 NP_002537 O00300 TR11B_HUMAN osteoprotegerin precursor 347 Death 2. apoptosis|skeletal system development cytokine activity|receptor activity central_nervous_system(2) 2 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) GCTTTAGTGCGTGCATTAGGC 0.443 41 414 --- --- --- --- PASS TAF2 6873 broad.mit.edu 37 8 120744199 120744199 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:120744199C>A uc003you.2 - 26 3835 c.3565G>T c.(3565-3567)GGC>TGC p.G1189C NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 1189 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ATAGACCTGCCACTGGCAGGG 0.423 97 85 --- --- --- --- PASS ATAD2 29028 broad.mit.edu 37 8 124408531 124408531 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:124408531C>A uc003yqh.3 - 1 175 c.67G>T c.(67-69)GAC>TAC p.D23Y ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_Intron|ATAD2_uc003yqj.2_Missense_Mutation_p.D23Y NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 23 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) CTGGACAGGTCCAAGGAGCCC 0.687 14 33 --- --- --- --- PASS KLHL38 340359 broad.mit.edu 37 8 124659171 124659171 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:124659171C>A uc003yqs.1 - 2 1458 c.1434G>T c.(1432-1434)GGG>GGT p.G478G NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 478 Kelch 4. 0 CAATCCGCTCCCCAAGCACCA 0.478 133 184 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131955658 131955658 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:131955658G>T uc003ytd.3 - 4 1548 c.1292C>A c.(1291-1293)TCT>TAT p.S431Y ADCY8_uc010mds.2_Missense_Mutation_p.S431Y NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 431 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) CTCCTGAGCAGACAAGGTCGT 0.463 HNSCC(32;0.087) 7 72 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 132002665 132002665 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:132002665G>T uc003ytd.3 - 2 1340 c.1084C>A c.(1084-1086)CGC>AGC p.R362S ADCY8_uc010mds.2_Missense_Mutation_p.R362S NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 362 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) GTCTCCAGGCGCAGCCTGGCC 0.502 HNSCC(32;0.087) 51 225 --- --- --- --- PASS KCNQ3 3786 broad.mit.edu 37 8 133182664 133182664 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:133182664C>A uc003ytj.2 - 8 1377 c.1152G>T c.(1150-1152)AGG>AGT p.R384S KCNQ3_uc010mdt.2_Missense_Mutation_p.R384S NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 384 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TAGCATAATACCTCCAGGCAG 0.502 17 74 --- --- --- --- PASS TG 7038 broad.mit.edu 37 8 133961037 133961037 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:133961037G>T uc003ytw.2 + 27 5291 c.5250G>T c.(5248-5250)GGG>GGT p.G1750G TG_uc010mdw.2_Silent_p.G509G|TG_uc011ljb.1_Silent_p.G119G NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1750 Type IIIB. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCATCTGTGGGTTGCTGAGCT 0.512 52 245 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139144863 139144863 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:139144863C>T uc003yuy.2 - 20 4365 c.4194G>A c.(4192-4194)TTG>TTA p.L1398L FAM135B_uc003yux.2_Silent_p.L1299L|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1398 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTCCTGCCACCAAGAAAAACT 0.527 HNSCC(54;0.14) 15 271 --- --- --- --- PASS TRAPPC9 83696 broad.mit.edu 37 8 141034035 141034035 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:141034035T>A uc003yvj.2 - 18 2832 c.2698A>T c.(2698-2700)AGT>TGT p.S900C TRAPPC9_uc003yvh.2_Missense_Mutation_p.S998C|TRAPPC9_uc010mel.1_Missense_Mutation_p.S321C|TRAPPC9_uc003yvi.1_Missense_Mutation_p.S891C NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 900 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 GACATTTACCTGGTTGCTGGG 0.517 32 149 --- --- --- --- PASS EIF2C2 27161 broad.mit.edu 37 8 141582932 141582932 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:141582932G>A uc003yvn.2 - 3 355 c.315C>T c.(313-315)CCC>CCT p.P105P EIF2C2_uc010men.2_Silent_p.P28P|EIF2C2_uc010meo.2_Silent_p.P105P NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 105 mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) CAATCGGAAGGGGCATGGCTG 0.507 45 69 --- --- --- --- PASS BAI1 575 broad.mit.edu 37 8 143559664 143559664 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:143559664G>A uc003ywm.2 + 6 1687 c.1504G>A c.(1504-1506)GCG>ACG p.A502T NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 502 Extracellular (Potential).|TSP type-1 4. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CTACGGGGGTGCGGAGTGCCA 0.682 10 9 --- --- --- --- PASS BAI1 575 broad.mit.edu 37 8 143572166 143572166 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:143572166G>A uc003ywm.2 + 16 2848 c.2665G>A c.(2665-2667)GAG>AAG p.E889K NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 889 Extracellular (Potential).|GPS. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCTGTGGGATGAGACGGATGT 0.642 3 4 --- --- --- --- PASS ARC 23237 broad.mit.edu 37 8 143695373 143695373 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:143695373C>A uc003ywn.1 - 1 461 c.260G>T c.(259-261)TGG>TTG p.W87L NM_015193 NP_056008 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated 87 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1) 1 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) GGACTTCTTCCAGCGCTGCGA 0.662 5 20 --- --- --- --- PASS CYP11B1 1584 broad.mit.edu 37 8 143960516 143960516 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:143960516G>T uc003yxi.2 - 2 334 c.327C>A c.(325-327)CAC>CAA p.H109Q CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.H109Q|CYP11B1_uc010mey.2_Missense_Mutation_p.H154Q NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 109 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity p.H109N(1) ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GGCTCATCCTGTGGGGATGCA 0.612 Familial_Hyperaldosteronism_type_I 14 67 --- --- --- --- PASS LY6H 4062 broad.mit.edu 37 8 144240339 144240339 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:144240339G>T uc011lka.1 - 3 234 c.68C>A c.(67-69)GCT>GAT p.A23D LY6H_uc011lkb.1_Missense_Mutation_p.A44D|LY6H_uc003yxt.2_Missense_Mutation_p.A61D|LY6H_uc011lkc.1_Missense_Mutation_p.A44D NM_002347 NP_002338 O94772 LY6H_HUMAN lymphocyte antigen 6 complex, locus H isoform a 23 nervous system development|organ morphogenesis anchored to membrane|plasma membrane 0 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CAGGCCATGAGCTGGGCAGGG 0.677 20 37 --- --- --- --- PASS GSDMD 79792 broad.mit.edu 37 8 144644650 144644650 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:144644650G>T uc010mfe.2 + 13 1874 c.1171G>T c.(1171-1173)GAG>TAG p.E391* GSDMD_uc003yyf.2_Nonsense_Mutation_p.E439*|GSDMD_uc003yyg.2_Nonsense_Mutation_p.E391*|GSDMD_uc003yyh.2_Nonsense_Mutation_p.E322* NM_024736 NP_079012 P57764 GSDMD_HUMAN gasdermin D 391 SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). 0 GCTGCTGGCGGAGGCGCTGGA 0.647 3 20 --- --- --- --- PASS EPPK1 83481 broad.mit.edu 37 8 144940678 144940678 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:144940678G>A uc003zaa.1 - 2 14767 c.14754C>T c.(14752-14754)GCC>GCT p.A4918A NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 4918 Plectin 61. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCTTCCACATGGCCTGGTAGA 0.706 4 74 --- --- --- --- PASS DMRT2 10655 broad.mit.edu 37 9 1056414 1056414 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:1056414C>A uc003zha.2 + 4 1027 c.827C>A c.(826-828)CCT>CAT p.P276H DMRT2_uc003zgx.3_Missense_Mutation_p.P43H|DMRT2_uc010mgz.2_Missense_Mutation_p.P43H|DMRT2_uc003zgy.3_Missense_Mutation_p.P120H|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.P276H NM_181872 NP_870987 Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 276 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) CGCATGGTGCCTGGACCTGAC 0.468 92 64 --- --- --- --- PASS RFX3 5991 broad.mit.edu 37 9 3277416 3277416 + Silent SNP T G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:3277416T>G uc003zhr.2 - 9 1209 c.897A>C c.(895-897)ACA>ACC p.T299T RFX3_uc010mhd.2_Silent_p.T299T|RFX3_uc003zhs.1_Silent_p.T299T|RFX3_uc003zht.1_Silent_p.T299T|RFX3_uc010mhe.1_Silent_p.T274T NM_134428 NP_602304 P48380 RFX3_HUMAN regulatory factor X3 isoform b 299 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) GACCACTTCCTGTGAAACCAT 0.368 119 60 --- --- --- --- PASS TPD52L3 89882 broad.mit.edu 37 9 6329011 6329011 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:6329011G>T uc003zjw.2 + 1 637 c.416G>T c.(415-417)TGG>TTG p.W139L TPD52L3_uc003zjv.2_Intron|TPD52L3_uc003zjx.1_Intron NM_033516 NP_277051 Q96J77 TPD55_HUMAN protein kinase NYD-SP25 isoform 1 139 protein binding 0 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1) AAAAGAGCTTGGCCCTGACTG 0.547 50 30 --- --- --- --- PASS KDM4C 23081 broad.mit.edu 37 9 7011847 7011847 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:7011847G>T uc003zkh.2 + 13 2516 c.1936G>T c.(1936-1938)GCC>TCC p.A646S KDM4C_uc010mhu.2_Missense_Mutation_p.A668S|KDM4C_uc011lmi.1_Missense_Mutation_p.A646S|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.A646S|KDM4C_uc011lmk.1_Missense_Mutation_p.A391S|KDM4C_uc011lml.1_Missense_Mutation_p.A333S NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 646 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 GCCACACTGTGCCATCTGCAC 0.517 32 30 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8497241 8497241 + Splice_Site SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:8497241C>A uc003zkk.2 - 25 3060 c.2349_splice c.e25+1 p.H783_splice PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Intron|PTPRD_uc003zkm.2_Splice_Site_p.H770_splice|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 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) AAATTACTCACATGTTCAGTA 0.333 TSP Lung(15;0.13) 21 21 --- --- --- --- PASS NFIB 4781 broad.mit.edu 37 9 14307058 14307058 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:14307058G>T uc003zle.2 - 2 927 c.492C>A c.(490-492)GTC>GTA p.V164V NFIB_uc003zlf.2_Silent_p.V164V|NFIB_uc011lmo.1_Silent_p.V164V NM_005596 NP_005587 O00712 NFIB_HUMAN nuclear factor I/B 164 CTF/NF-I. anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) GATGTGGCTGGACACAAAGTG 0.458 T MYB|HGMA2 adenoid cystic carcinoma|lipoma 90 50 --- --- --- --- PASS C9orf93 203238 broad.mit.edu 37 9 15848936 15848936 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:15848936G>T uc003zmd.2 + 23 3774 c.3459G>T c.(3457-3459)ACG>ACT p.T1153T C9orf93_uc003zme.2_Silent_p.T1068T|C9orf93_uc011lmu.1_Silent_p.T1161T|C9orf93_uc003zmf.1_Silent_p.T461T NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 1153 0 GBM - Glioblastoma multiforme(50;4.84e-07) TAGAAAATACGCTTCACAAGG 0.294 22 20 --- --- --- --- PASS CNTLN 54875 broad.mit.edu 37 9 17487026 17487026 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:17487026G>T uc003zmz.2 + 25 4104 c.4078G>T c.(4078-4080)GAA>TAA p.E1360* CNTLN_uc003zmy.2_Nonsense_Mutation_p.E1361*|CNTLN_uc010mio.2_Nonsense_Mutation_p.E1040* NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 1361 centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) AAATGACAAGGAATGGATGTT 0.274 44 44 --- --- --- --- PASS FAM154A 158297 broad.mit.edu 37 9 18950896 18950896 + Silent SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:18950896A>G uc003zni.1 - 2 356 c.78T>C c.(76-78)GAT>GAC p.D26D FAM154A_uc010mip.1_5'UTR NM_153707 NP_714918 Q8IYX7 F154A_HUMAN hypothetical protein LOC158297 26 pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.53e-16) TCTCTGTTTTATCATAAATCT 0.443 113 71 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32631522 32631522 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:32631522C>A uc003zrg.1 - 1 4146 c.4056G>T c.(4054-4056)GTG>GTT p.V1352V uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1352 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GAACCTCATGCACATTCTCAA 0.408 228 133 --- --- --- --- PASS DNAI1 27019 broad.mit.edu 37 9 34493299 34493299 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:34493299G>T uc003zum.2 + 9 982 c.789G>T c.(787-789)ATG>ATT p.M263I NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 263 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) AGATGGCCATGAGGAAGCTGA 0.478 Kartagener_syndrome 84 46 --- --- --- --- PASS PIGO 84720 broad.mit.edu 37 9 35091903 35091903 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:35091903C>A uc003zwd.2 - 7 2377 c.1981G>T c.(1981-1983)GTG>TTG p.V661L PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.V224L NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, 661 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity large_intestine(1)|ovary(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CGACCACCCACCATGGATGCC 0.557 54 32 --- --- --- --- PASS TRPM3 80036 broad.mit.edu 37 9 73235224 73235224 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:73235224C>G uc004aid.2 - 15 2105 c.1861G>C c.(1861-1863)GAC>CAC p.D621H TRPM3_uc004ahu.2_Missense_Mutation_p.D451H|TRPM3_uc004ahv.2_Missense_Mutation_p.D423H|TRPM3_uc004ahw.2_Missense_Mutation_p.D493H|TRPM3_uc004ahx.2_Missense_Mutation_p.D480H|TRPM3_uc004ahy.2_Missense_Mutation_p.D483H|TRPM3_uc004ahz.2_Missense_Mutation_p.D470H|TRPM3_uc004aia.2_Missense_Mutation_p.D468H|TRPM3_uc004aib.2_Missense_Mutation_p.D458H|TRPM3_uc004aic.2_Missense_Mutation_p.D621H NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 646 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 AAGTCAATGTCCACCTCTTCT 0.468 56 195 --- --- --- --- PASS GDA 9615 broad.mit.edu 37 9 74828854 74828854 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:74828854C>A uc004aiq.2 + 5 708 c.525C>A c.(523-525)GAC>GAA p.D175E GDA_uc011lse.1_Missense_Mutation_p.D101E|GDA_uc011lsf.1_Missense_Mutation_p.D101E|GDA_uc004air.2_Missense_Mutation_p.D175E|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.D133E|GDA_uc004ait.1_Missense_Mutation_p.D101E NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 175 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) ATTTGAATGACACTTTTCCAG 0.388 18 60 --- --- --- --- PASS ZFAND5 7763 broad.mit.edu 37 9 74970881 74970881 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:74970881A>T uc004aiv.2 - 6 908 c.630T>A c.(628-630)ATT>ATA p.I210I ZFAND5_uc010mox.1_Silent_p.I107I|ZFAND5_uc010moy.1_Silent_p.I210I|ZFAND5_uc004aix.2_Silent_p.I210I|ZFAND5_uc004aiw.2_Silent_p.I210I|ZFAND5_uc004aiy.2_Silent_p.I210I NM_006007 NP_005998 O76080 ZFAN5_HUMAN zinc finger, AN1-type domain 5 210 DNA binding|zinc ion binding 0 ATATTCTCTGAATTTTTTCAG 0.343 15 58 --- --- --- --- PASS TRPM6 140803 broad.mit.edu 37 9 77442862 77442862 + Missense_Mutation SNP C A A rs139476357 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:77442862C>A uc004ajl.1 - 7 911 c.673G>T c.(673-675)GTG>TTG p.V225L TRPM6_uc004ajk.1_Missense_Mutation_p.V220L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.V225L|TRPM6_uc010mpd.1_Missense_Mutation_p.V225L|TRPM6_uc010mpe.1_Missense_Mutation_p.V225L|TRPM6_uc004ajn.1_Missense_Mutation_p.V225L NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 225 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 TACAGGCACACCACCTGAGAG 0.532 12 46 --- --- --- --- PASS C9orf40 55071 broad.mit.edu 37 9 77563085 77563085 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:77563085T>A uc004ajo.3 - 2 739 c.464A>T c.(463-465)TAC>TTC p.Y155F NM_017998 NP_060468 Q8IXQ3 CI040_HUMAN hypothetical protein LOC55071 155 0 ATTCCTCCAGTACTGGAAGGT 0.388 27 87 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79320494 79320494 + Silent SNP T G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:79320494T>G uc010mpk.2 - 8 6820 c.6696A>C c.(6694-6696)GCA>GCC p.A2232A PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2232 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 AAATGCTAGTTGCCACATTTT 0.443 20 59 --- --- --- --- PASS TLE4 7091 broad.mit.edu 37 9 82323695 82323695 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:82323695A>T uc004ald.2 + 14 2181 c.1332A>T c.(1330-1332)TCA>TCT p.S444S TLE4_uc004alc.2_Silent_p.S419S|TLE4_uc010mpr.2_Silent_p.S298S|TLE4_uc004ale.2_Silent_p.S56S|TLE4_uc011lsq.1_Silent_p.S387S|TLE4_uc010mps.2_Silent_p.S343S|TLE4_uc004alf.2_Silent_p.S358S 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 ATGGGAGATCACCAGTGGTGC 0.363 6 14 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84608354 84608354 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:84608354C>A uc004amn.2 + 4 3016 c.2969C>A c.(2968-2970)TCC>TAC p.S990Y NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 990 integral to membrane 0 CACCCTGTCTCCTCACCTGTC 0.502 66 184 --- --- --- --- PASS KIF27 55582 broad.mit.edu 37 9 86503502 86503502 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:86503502C>A uc004ana.2 - 8 2129 c.1985G>T c.(1984-1986)AGA>ATA p.R662I KIF27_uc010mpw.2_Missense_Mutation_p.R662I|KIF27_uc010mpx.2_Missense_Mutation_p.R662I NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 662 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 TGAACGACTTCTACATCTTAA 0.338 16 46 --- --- --- --- PASS SLC28A3 64078 broad.mit.edu 37 9 86893173 86893173 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:86893173G>A uc010mpz.2 - 18 2161 c.2036C>T c.(2035-2037)CCA>CTA p.P679L SLC28A3_uc011lsy.1_Missense_Mutation_p.P610L|SLC28A3_uc004anu.1_Missense_Mutation_p.P679L NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 679 Extracellular (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 AAAGGTCGATGGATTCAACAA 0.463 14 37 --- --- --- --- PASS NXNL2 158046 broad.mit.edu 37 9 91150625 91150625 + Silent SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:91150625G>C uc011ltj.1 + 1 610 c.276G>C c.(274-276)GCG>GCC p.A92A NXNL2_uc004aqa.2_Silent_p.A92A NM_001161625 NP_001155097 Q5VZ03 NXNL2_HUMAN nucleoredoxin-like 2 isoform 1 92 Thioredoxin. 0 CCTGGCTGGCGCTGCCCTTCC 0.622 5 24 --- --- --- --- PASS ROR2 4920 broad.mit.edu 37 9 94495406 94495406 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:94495406C>A uc004arj.1 - 6 1134 c.935G>T c.(934-936)CGC>CTC p.R312L ROR2_uc004ari.1_Missense_Mutation_p.R172L|ROR2_uc004ark.2_Missense_Mutation_p.R312L NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 312 Extracellular (Potential). negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 GCACTCACAGCGGCCCAGCCT 0.687 3 4 --- --- --- --- PASS CENPP 401541 broad.mit.edu 37 9 95099822 95099822 + Splice_Site SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:95099822G>T uc004arz.2 + 3 830 c.290_splice c.e3-1 p.S97_splice CENPP_uc010mqx.2_Splice_Site|CENPP_uc004ary.1_Splice_Site_p.S97_splice NM_001012267 NP_001012267 Q6IPU0 CENPP_HUMAN centromere protein P CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm ovary(2) 2 CTGCTTTACAGGTATTAGAAA 0.289 41 122 --- --- --- --- PASS CDC14B 8555 broad.mit.edu 37 9 99285911 99285911 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:99285911C>T uc004awj.2 - 10 1495 c.1043G>A c.(1042-1044)AGA>AAA p.R348K CDC14B_uc004awk.2_Missense_Mutation_p.R348K|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.R311K NM_033331 NP_201588 O60729 CC14B_HUMAN CDC14 homolog B isoform 2 348 B. activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) CGAGCCAGGTCTGCAGATCCT 0.542 26 109 --- --- --- --- PASS HEMGN 55363 broad.mit.edu 37 9 100692380 100692380 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:100692380G>T uc004axy.2 - 3 1405 c.1297C>A c.(1297-1299)CCC>ACC p.P433T HEMGN_uc004axz.2_Missense_Mutation_p.P433T NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 433 cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) TGGCCTTGGGGCCCACCTGTT 0.463 71 279 --- --- --- --- PASS COL15A1 1306 broad.mit.edu 37 9 101747923 101747923 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:101747923A>T uc004azb.1 + 3 383 c.177A>T c.(175-177)ACA>ACT p.T59T COL15A1_uc004aza.2_Silent_p.T59T NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 59 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) CCTTTGTCACAGGCTATGGTG 0.622 21 24 --- --- --- --- PASS COL15A1 1306 broad.mit.edu 37 9 101777769 101777769 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:101777769A>T uc004azb.1 + 10 1630 c.1424A>T c.(1423-1425)GAT>GTT p.D475V NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 475 3.|Nonhelical region 1 (NC1).|4 X tandem repeats. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) ACTTTTGAGGATGAGGAAGCC 0.547 28 30 --- --- --- --- PASS COL15A1 1306 broad.mit.edu 37 9 101829241 101829241 + Silent SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:101829241T>A uc004azb.1 + 40 3935 c.3729T>A c.(3727-3729)GCT>GCA p.A1243A NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 1243 Nonhelical region 10 (NC10). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) AGGCCAGAGCTGCAGGACTGT 0.473 65 83 --- --- --- --- PASS NR4A3 8013 broad.mit.edu 37 9 102609735 102609735 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:102609735G>C uc004baf.1 + 7 2200 c.1471G>C c.(1471-1473)GAT>CAT p.D491H NR4A3_uc004bag.1_Missense_Mutation_p.D491H|NR4A3_uc004bai.2_Missense_Mutation_p.D502H NM_006981 NP_008912 Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 491 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding EWSR1/NR4A3(140)|TAF15/NR4A3(33) bone(173) 173 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) CACTGCTGAAGATAAGTTTGT 0.428 T EWSR1 extraskeletal myxoid chondrosarcoma 68 122 --- --- --- --- PASS GRIN3A 116443 broad.mit.edu 37 9 104432717 104432717 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:104432717G>A uc004bbp.1 - 3 2578 c.1977C>T c.(1975-1977)ACC>ACT p.T659T GRIN3A_uc004bbq.1_Silent_p.T659T NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 659 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding p.T659N(1) ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CTGTATCTCGGGTCCTCACTA 0.527 58 74 --- --- --- --- PASS CYLC2 1539 broad.mit.edu 37 9 105767109 105767109 + Missense_Mutation SNP G T T rs143843968 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:105767109G>T uc004bbs.2 + 4 383 c.313G>T c.(313-315)GTC>TTC p.V105F NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 105 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) AACTCGTACTGTCGAGGTGGA 0.363 34 47 --- --- --- --- PASS OR13F1 138805 broad.mit.edu 37 9 107266977 107266977 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:107266977C>A uc011lvm.1 + 1 434 c.434C>A c.(433-435)GCA>GAA p.A145E NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GTGCAGATTGCAGCTGGCTCC 0.507 44 51 --- --- --- --- PASS ABCA1 19 broad.mit.edu 37 9 107576438 107576438 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:107576438C>A uc004bcl.2 - 27 4175 c.3862G>T c.(3862-3864)GAT>TAT p.D1288Y NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1288 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GCAGCATCATCTTCAGTGAAC 0.488 19 92 --- --- --- --- PASS C9orf4 23732 broad.mit.edu 37 9 111899755 111899755 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:111899755G>T uc004bdw.1 - 5 1015 c.1015C>A c.(1015-1017)CTA>ATA p.L339I NM_014334 NP_055149 Q9P0K9 CI004_HUMAN hypothetical protein LOC23732 339 Helical; (Potential). integral to membrane 0 CCCATCAATAGGTAGAAGGTC 0.373 29 130 --- --- --- --- PASS SVEP1 79987 broad.mit.edu 37 9 113170526 113170526 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:113170526C>T uc010mtz.2 - 38 7691 c.7354G>A c.(7354-7356)GAT>AAT p.D2452N SVEP1_uc010mty.2_Missense_Mutation_p.D378N NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2452 Sushi 18. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CCTTGCACATCAATGATTCCA 0.502 26 54 --- --- --- --- PASS SVEP1 79987 broad.mit.edu 37 9 113192679 113192679 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:113192679C>A uc010mtz.2 - 33 5742 c.5405G>T c.(5404-5406)GGT>GTT p.G1802V SVEP1_uc010mty.2_5'Flank NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1802 Sushi 7. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 ATAAATCTCACCTGAGGAGTG 0.428 15 32 --- --- --- --- PASS SVEP1 79987 broad.mit.edu 37 9 113194802 113194802 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:113194802C>A uc010mtz.2 - 31 5510 c.5173G>T c.(5173-5175)GAC>TAC p.D1725Y NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1725 Sushi 6. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 ATCCTTGAGTCACCCAATAGA 0.463 61 97 --- --- --- --- PASS ZNF483 158399 broad.mit.edu 37 9 114289897 114289897 + Nonsense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:114289897G>A uc004bff.2 + 2 446 c.222G>A c.(220-222)TGG>TGA p.W74* ZNF483_uc011lwq.1_Nonsense_Mutation_p.W74*|ZNF483_uc004bfg.2_Nonsense_Mutation_p.W74*|ZNF483_uc010mud.1_Nonsense_Mutation_p.W74* NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 74 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GTCAACTCTGGGAGCTCTGCA 0.473 43 103 --- --- --- --- PASS SLC46A2 57864 broad.mit.edu 37 9 115652195 115652195 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:115652195A>G uc004bgk.2 - 1 999 c.767T>C c.(766-768)CTG>CCG p.L256P NM_033051 NP_149040 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 256 Cytoplasmic (Potential). integral to membrane|plasma membrane symporter activity central_nervous_system(1) 1 ATCAGGATCCAGAGTGCGGTA 0.562 22 71 --- --- --- --- PASS ZFP37 7539 broad.mit.edu 37 9 115806140 115806140 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:115806140C>A uc004bgm.1 - 4 786 c.758G>T c.(757-759)TGC>TTC p.C253F ZFP37_uc011lwz.1_Missense_Mutation_p.C268F|ZFP37_uc011lxa.1_Missense_Mutation_p.C254F NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 253 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 ACTATGACAGCATAATTTGTC 0.363 103 215 --- --- --- --- PASS DFNB31 25861 broad.mit.edu 37 9 117228590 117228590 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:117228590G>A uc004biz.3 - 3 1569 c.920C>T c.(919-921)ACT>ATT p.T307I DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.T307I NM_015404 NP_056219 Q9P202 WHRN_HUMAN CASK-interacting protein CIP98 isoform 1 307 PDZ 2. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium ovary(4)|central_nervous_system(1)|pancreas(1) 6 GTCCACGCCAGTGATGTAAAT 0.617 65 83 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 120053605 120053605 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:120053605C>A uc004bjs.1 - 2 731 c.630G>T c.(628-630)ATG>ATT p.M210I ASTN2_uc004bjr.1_Missense_Mutation_p.M210I|ASTN2_uc004bjt.1_Missense_Mutation_p.M210I NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 210 Helical; (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CATCACTCACCATCACAGAAA 0.622 11 46 --- --- --- --- PASS PTGS1 5742 broad.mit.edu 37 9 125148949 125148949 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:125148949A>T uc004bmg.1 + 9 1369 c.1234A>T c.(1234-1236)ATG>TTG p.M412L PTGS1_uc011lys.1_Intron|PTGS1_uc010mwb.1_Intron|PTGS1_uc004bmf.1_Intron|PTGS1_uc004bmh.1_Missense_Mutation_p.M303L|PTGS1_uc011lyt.1_Missense_Mutation_p.M303L NM_000962 NP_000953 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 isoform 1 412 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane 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)|skin(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CAACACCTCCATGTTGGTGGA 0.493 34 133 --- --- --- --- PASS OR1J2 26740 broad.mit.edu 37 9 125273890 125273890 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:125273890G>T uc004bmj.1 + 4 1665 c.810G>T c.(808-810)AAG>AAT p.K270N OR1J2_uc011lyv.1_Missense_Mutation_p.K270N NM_054107 NP_473448 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, 270 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|pancreas(1)|breast(1) 5 CTATTGACAAGGATGTCATTG 0.478 59 246 --- --- --- --- PASS OR1L8 138881 broad.mit.edu 37 9 125330086 125330086 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:125330086G>T uc004bmp.1 - 1 671 c.671C>A c.(670-672)ACT>AAT p.T224N NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 GAGAACTGTAGTGAGGATTCG 0.423 11 40 --- --- --- --- PASS COQ4 51117 broad.mit.edu 37 9 131087483 131087483 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:131087483G>A uc004bur.3 + 3 611 c.264G>A c.(262-264)CAG>CAA p.Q88Q TRUB2_uc004buq.1_5'Flank|COQ4_uc011max.1_Silent_p.Q88Q|COQ4_uc004bus.2_Silent_p.Q64Q|COQ4_uc010mxy.2_Silent_p.Q64Q NM_016035 NP_057119 Q9Y3A0 COQ4_HUMAN coenzyme Q4 homolog precursor 88 ubiquinone biosynthetic process mitochondrial inner membrane 0 TCAGGGACCAGATGAGGAGGG 0.557 12 57 --- --- --- --- PASS COQ4 51117 broad.mit.edu 37 9 131094561 131094561 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:131094561G>T uc004bur.3 + 5 879 c.532G>T c.(532-534)GGG>TGG p.G178W COQ4_uc004bus.2_Missense_Mutation_p.G154W|COQ4_uc010mxy.2_Missense_Mutation_p.G154W NM_016035 NP_057119 Q9Y3A0 COQ4_HUMAN coenzyme Q4 homolog precursor 178 ubiquinone biosynthetic process mitochondrial inner membrane 0 CAACATCCTGGGTGAGTGCCC 0.622 13 28 --- --- --- --- PASS NUP214 8021 broad.mit.edu 37 9 134106048 134106048 + Missense_Mutation SNP G T T rs142328071 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:134106048G>T uc004cag.2 + 34 6217 c.6106G>T c.(6106-6108)GGC>TGC p.G2036C NUP214_uc004cah.2_Missense_Mutation_p.G2026C|NUP214_uc004cai.2_Missense_Mutation_p.G1466C|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.G862C NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 2036 Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 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) CACATCCTTCGGCACGCTCGC 0.567 T DEK|SET|ABL1 AML|T-ALL 37 62 --- --- --- --- PASS PPAPDC3 84814 broad.mit.edu 37 9 134165440 134165440 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:134165440G>T uc004cal.2 + 1 360 c.56G>T c.(55-57)CGG>CTG p.R19L NM_032728 NP_116117 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain 19 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope hydrolase activity breast(1) 1 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) GTCCTCAACCGGGCTGAGTTC 0.711 12 23 --- --- --- --- PASS PPAPDC3 84814 broad.mit.edu 37 9 134183627 134183627 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:134183627G>T uc004cal.2 + 2 1073 c.769G>T c.(769-771)GTC>TTC p.V257F NM_032728 NP_116117 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain 257 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope hydrolase activity breast(1) 1 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) GGTGGAGCTGGTCTGGATGCC 0.667 3 15 --- --- --- --- PASS POMT1 10585 broad.mit.edu 37 9 134396836 134396836 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:134396836G>A uc004cav.2 + 18 2070 c.1868G>A c.(1867-1869)AGA>AAA p.R623K POMT1_uc004cax.2_Missense_Mutation_p.R601K|POMT1_uc011mcj.1_Missense_Mutation_p.R341K|POMT1_uc004cau.2_Missense_Mutation_p.R601K|POMT1_uc004caw.2_Missense_Mutation_p.R547K|POMT1_uc011mck.1_Missense_Mutation_p.R484K|POMT1_uc011mcl.1_Missense_Mutation_p.R449K|POMT1_uc011mcm.1_Missense_Mutation_p.R571K NM_007171 NP_009102 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 isoform a 623 multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding upper_aerodigestive_tract(1) 1 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) CGACGGCGAAGAAATGTCCAT 0.413 14 83 --- --- --- --- PASS GFI1B 8328 broad.mit.edu 37 9 135862794 135862794 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:135862794G>T uc004ccg.2 + 3 377 c.226G>T c.(226-228)GCC>TCC p.A76S GFI1B_uc010mzy.2_Missense_Mutation_p.A76S NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription 76 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) GGCCAGGATGGCCCCGGCACC 0.627 27 48 --- --- --- --- PASS GTF3C5 9328 broad.mit.edu 37 9 135906463 135906463 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:135906463G>A uc004cci.3 + 1 402 c.65G>A c.(64-66)CGA>CAA p.R22Q GTF3C5_uc010mzz.2_5'UTR|GTF3C5_uc004ccj.3_Missense_Mutation_p.R22Q NM_012087 NP_036219 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5 22 transcription factor TFIIIC complex DNA binding|protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) AGGCGGGAGCGACGCATGGTG 0.721 6 15 --- --- --- --- PASS ADAMTS13 11093 broad.mit.edu 37 9 136304491 136304491 + Nonsense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:136304491T>A uc004cdv.3 + 15 2154 c.1710T>A c.(1708-1710)TAT>TAA p.Y570* ADAMTS13_uc004cdp.3_5'UTR|ADAMTS13_uc004cdt.1_Nonsense_Mutation_p.Y570*|ADAMTS13_uc004cdu.1_Nonsense_Mutation_p.Y539*|ADAMTS13_uc004cdw.3_Nonsense_Mutation_p.Y570*|ADAMTS13_uc004cdx.3_Nonsense_Mutation_p.Y539*|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Nonsense_Mutation_p.Y240*|ADAMTS13_uc004cds.1_Nonsense_Mutation_p.Y95*|ADAMTS13_uc004cdr.1_RNA NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 570 Spacer. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) TTCTAGAATATGTCACATTTC 0.488 33 152 --- --- --- --- PASS COL5A1 1289 broad.mit.edu 37 9 137593147 137593147 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:137593147G>A uc004cfe.2 + 4 1004 c.622G>A c.(622-624)GGC>AGC p.G208S NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 208 TSP N-terminal.|Laminin G-like. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CATCGTGTTTGGCACCCGGAT 0.557 5 34 --- --- --- --- PASS C9orf172 389813 broad.mit.edu 37 9 139741707 139741707 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:139741707C>G uc011meh.1 + 1 2841 c.2841C>G c.(2839-2841)GGC>GGG p.G947G PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank NM_001080482 NP_001073951 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 947 0 GGCGCACCGGCCGCCCCTTCA 0.662 7 12 --- --- --- --- PASS ABCA2 20 broad.mit.edu 37 9 139909925 139909925 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:139909925T>C uc011mem.1 - 23 3783 c.3635A>G c.(3634-3636)TAT>TGT p.Y1212C ABCA2_uc011mel.1_Missense_Mutation_p.Y1213C|ABCA2_uc004ckl.1_Missense_Mutation_p.Y1143C|ABCA2_uc004ckm.1_Missense_Mutation_p.Y1243C|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 1212 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCCGTCGCCATAGGTGCCCTT 0.657 7 6 --- --- --- --- PASS NDOR1 27158 broad.mit.edu 37 9 140100357 140100357 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:140100357A>G uc004clw.2 + 1 239 c.128A>G c.(127-129)TAC>TGC p.Y43C TMEM203_uc004clv.2_5'Flank|NDOR1_uc004clx.2_Missense_Mutation_p.Y43C|NDOR1_uc011mes.1_Missense_Mutation_p.Y43C|NDOR1_uc004cly.2_Missense_Mutation_p.Y43C NM_014434 NP_055249 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 43 Flavodoxin-like. cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) CTGGACTCCTACCCGGTGGTG 0.711 3 19 --- --- --- --- PASS CACNA1B 774 broad.mit.edu 37 9 140846807 140846807 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:140846807C>A uc004cog.2 + 7 1193 c.1048C>A c.(1048-1050)CTG>ATG p.L350M NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 350 Helical; Name=S6 of repeat I; (Potential).|I. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CATGCTCAACCTGGTGCTGGG 0.587 32 47 --- --- --- --- PASS CACNA1B 774 broad.mit.edu 37 9 140991014 140991014 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:140991014C>A uc004cog.2 + 36 5318 c.5173C>A c.(5173-5175)CAC>AAC p.H1725N CACNA1B_uc004coi.2_Missense_Mutation_p.H937N|CACNA1B_uc004cok.1_RNA|CACNA1B_uc010ncp.1_Intron NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 1725 EF-hand.|Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) AGGTCCTCACCACTTGGATGA 0.552 17 99 --- --- --- --- PASS ADARB2 105 broad.mit.edu 37 10 1405856 1405856 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:1405856C>A uc009xhq.2 - 3 818 c.444G>T c.(442-444)ACG>ACT p.T148T NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 148 DRBM 1. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GCACCGGGCCCGTCTGCGACA 0.677 16 17 --- --- --- --- PASS ADARB2 105 broad.mit.edu 37 10 1421339 1421339 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:1421339C>A uc009xhq.2 - 2 491 c.117G>T c.(115-117)TTG>TTT p.L39F NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 39 mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GGAAGGTTGACAATATGCTTA 0.428 11 52 --- --- --- --- PASS PRKCQ 5588 broad.mit.edu 37 10 6506291 6506291 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:6506291C>A uc001ijj.1 - 13 1504 c.1429G>T c.(1429-1431)GAC>TAC p.D477Y PRKCQ_uc009xim.1_Missense_Mutation_p.D477Y|PRKCQ_uc001iji.1_Missense_Mutation_p.D510Y|PRKCQ_uc009xin.1_Missense_Mutation_p.D441Y|PRKCQ_uc010qax.1_Missense_Mutation_p.D352Y NM_006257 NP_006248 Q04759 KPCT_HUMAN protein kinase C, theta 477 Protein kinase. 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 CTGGAAAGGTCGAACTTGTGG 0.428 151 230 --- --- --- --- PASS ITIH5 80760 broad.mit.edu 37 10 7608323 7608323 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:7608323C>A uc001ijq.2 - 13 2276 c.2197G>T c.(2197-2199)GGC>TGC p.G733C ITIH5_uc001ijp.2_Missense_Mutation_p.G519C NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 733 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 TTCTTGTGGCCATTTGGAGGG 0.458 18 22 --- --- --- --- PASS GATA3 2625 broad.mit.edu 37 10 8097818 8097818 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:8097818C>A uc001ika.2 + 2 757 c.200C>A c.(199-201)TCG>TAG p.S67* FLJ45983_uc010qbe.1_5'Flank|FLJ45983_uc001ijx.1_5'Flank|FLJ45983_uc010qbf.1_5'Flank|FLJ45983_uc010qbg.1_5'Flank|FLJ45983_uc001ijy.1_5'Flank|GATA3_uc001ijz.2_Nonsense_Mutation_p.S67* NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 67 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 TACGGAAACTCGGTCAGGGCC 0.687 F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 3 5 --- --- --- --- PASS CDNF 441549 broad.mit.edu 37 10 14867509 14867509 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:14867509C>A uc001inb.1 - 3 392 c.354G>T c.(352-354)AAG>AAT p.K118N CDNF_uc010qbv.1_Missense_Mutation_p.K118N|CDNF_uc001inc.1_Missense_Mutation_p.K9N NM_001029954 NP_001025125 Q49AH0 CDNF_HUMAN arginine-rich, mutated in early stage 118 extracellular region growth factor activity 0 GGCTATCCAACTTCTTCAGCT 0.468 81 115 --- --- --- --- PASS FAM171A1 221061 broad.mit.edu 37 10 15296871 15296871 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:15296871C>A uc001iob.2 - 4 433 c.426G>T c.(424-426)CGG>CGT p.R142R NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 142 Extracellular (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 GAGGCTGTGGCCGGGCACCTG 0.542 9 30 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16893320 16893320 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:16893320C>A uc001ioo.2 - 60 9629 c.9577G>T c.(9577-9579)GTA>TTA p.V3193L CUBN_uc009xjq.1_RNA NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3193 CUB 24. 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) ACTTTGTTTACAGGTGCAATT 0.373 28 99 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16930512 16930512 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:16930512G>T uc001ioo.2 - 56 8861 c.8809C>A c.(8809-8811)CCA>ACA p.P2937T CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.P293T NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2937 CUB 22. 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) TATTGTTTTGGGTAATTTGGA 0.388 30 148 --- --- --- --- PASS MYO3A 53904 broad.mit.edu 37 10 26446322 26446322 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:26446322G>T uc001isn.2 + 26 3237 c.2877G>T c.(2875-2877)CAG>CAT p.Q959H MYO3A_uc009xko.1_Missense_Mutation_p.Q959H|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 959 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GTGAGCGTCAGGCAAGAAAAT 0.413 56 94 --- --- --- --- PASS APBB1IP 54518 broad.mit.edu 37 10 26830589 26830589 + Nonsense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:26830589A>T uc001iss.2 + 11 1444 c.1123A>T c.(1123-1125)AAA>TAA p.K375* APBB1IP_uc009xks.1_Nonsense_Mutation_p.K375* NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 375 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 AATGAAATATAAAGCGCCCAC 0.303 14 59 --- --- --- --- PASS PTCHD3 374308 broad.mit.edu 37 10 27702954 27702954 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:27702954G>A uc001itu.2 - 1 344 c.226C>T c.(226-228)CCC>TCC p.P76S NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 76 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 GACGGCCGGGGGGGTGCATCG 0.721 10 52 --- --- --- --- PASS C10orf10 11067 broad.mit.edu 37 10 45473174 45473174 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:45473174A>G uc001jbr.3 - 2 595 c.305T>C c.(304-306)GTG>GCG p.V102A RASSF4_uc001jbo.2_Intron|RASSF4_uc001jbp.2_Intron|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_Intron NM_007021 NP_008952 Q9NTK1 DEPP_HUMAN fasting-induced protein 102 mitochondrion 0 CAGGGGGTCCACAGTATCAGC 0.657 26 48 --- --- --- --- PASS GDF10 2662 broad.mit.edu 37 10 48429028 48429028 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:48429028G>T uc001jfb.2 - 2 1314 c.858C>A c.(856-858)CCC>CCA p.P286P GDF10_uc009xnp.2_Silent_p.P285P|GDF10_uc009xnq.1_Silent_p.P286P NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 286 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 GGCGCACGCGGGGGTCCGCTG 0.721 7 4 --- --- --- --- PASS C10orf71 118461 broad.mit.edu 37 10 50530616 50530616 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:50530616C>A uc010qgp.1 + 3 365 c.26C>A c.(25-27)ACA>AAA p.T9K NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 9 0 AAGAAGTGCACAGACGCGTTC 0.532 7 17 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55780053 55780053 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:55780053C>G uc001jju.1 - 20 3045 c.2650G>C c.(2650-2652)GCA>CCA p.A884P PCDH15_uc010qhq.1_Missense_Mutation_p.A889P|PCDH15_uc010qhr.1_Missense_Mutation_p.A884P|PCDH15_uc010qhs.1_Missense_Mutation_p.A896P|PCDH15_uc010qht.1_Missense_Mutation_p.A891P|PCDH15_uc010qhu.1_Missense_Mutation_p.A884P|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.A884P|PCDH15_uc010qhw.1_Missense_Mutation_p.A847P|PCDH15_uc010qhx.1_Missense_Mutation_p.A813P|PCDH15_uc010qhy.1_Missense_Mutation_p.A889P|PCDH15_uc010qhz.1_Missense_Mutation_p.A884P|PCDH15_uc010qia.1_Missense_Mutation_p.A862P|PCDH15_uc010qib.1_Missense_Mutation_p.A862P|PCDH15_uc001jjw.2_Missense_Mutation_p.A884P NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 884 Extracellular (Potential).|Cadherin 8. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TCTGGAAATGCCTCATAATCT 0.393 HNSCC(58;0.16) 46 210 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 56287599 56287599 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:56287599C>T uc001jju.1 - 3 525 c.130G>A c.(130-132)GTT>ATT p.V44I PCDH15_uc010qhq.1_Missense_Mutation_p.V49I|PCDH15_uc010qhr.1_Missense_Mutation_p.V44I|PCDH15_uc010qhs.1_Missense_Mutation_p.V49I|PCDH15_uc010qht.1_Missense_Mutation_p.V44I|PCDH15_uc010qhu.1_Missense_Mutation_p.V44I|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.V44I|PCDH15_uc010qhw.1_Missense_Mutation_p.V44I|PCDH15_uc010qhx.1_Missense_Mutation_p.V44I|PCDH15_uc010qhy.1_Missense_Mutation_p.V49I|PCDH15_uc010qhz.1_Missense_Mutation_p.V44I|PCDH15_uc010qia.1_Intron|PCDH15_uc010qib.1_Intron|PCDH15_uc001jjw.2_Missense_Mutation_p.V44I NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 44 Cadherin 1.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TCAATAGCAACTATGGTAGCT 0.348 HNSCC(58;0.16) 25 119 --- --- --- --- PASS BICC1 80114 broad.mit.edu 37 10 60556226 60556226 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:60556226G>T uc001jki.1 + 10 1306 c.1306G>T c.(1306-1308)GGC>TGC p.G436C BICC1_uc001jkj.1_Missense_Mutation_p.G77C NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 436 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 CTGCCCTGCCGGCCTGGCATG 0.502 34 62 --- --- --- --- PASS ZNF365 22891 broad.mit.edu 37 10 64159503 64159503 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:64159503C>T uc001jly.3 + 5 1286 c.1224C>T c.(1222-1224)CCC>CCT p.P408P ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Silent_p.P393P|ZNF365_uc001jma.3_RNA NM_014951 NP_055766 Q70YC4 TALAN_HUMAN zinc finger protein 365 isoform A Error:Variant_position_missing_in_Q70YC4_after_alignment ovary(1)|skin(1) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) ACATCAGGCCCAAAATGGCTA 0.527 25 40 --- --- --- --- PASS TET1 80312 broad.mit.edu 37 10 70412277 70412277 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:70412277G>T uc001jok.3 + 6 4892 c.4387G>T c.(4387-4389)GCA>TCA p.A1463S NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1463 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 AAAAGGAAACGCAATAAGGAT 0.358 40 63 --- --- --- --- PASS PRF1 5551 broad.mit.edu 37 10 72358511 72358511 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:72358511G>T uc009xqg.2 - 3 1127 c.966C>A c.(964-966)CCC>CCA p.P322P PRF1_uc001jrf.3_Silent_p.P322P NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 322 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 AGTACTGCTCGGGCCCGGCCT 0.662 M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 46 59 --- --- --- --- PASS CDH23 64072 broad.mit.edu 37 10 73464784 73464784 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:73464784C>A uc001jrx.3 + 24 3227 c.2850C>A c.(2848-2850)ACC>ACA p.T950T CDH23_uc001jry.2_Silent_p.T566T|CDH23_uc001jrz.2_Silent_p.T566T NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 950 Cadherin 9.|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 TGGTCACCACCACCGAGCTGG 0.667 38 95 --- --- --- --- PASS MYST4 23522 broad.mit.edu 37 10 76603051 76603051 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:76603051C>A uc001jwn.1 + 3 929 c.436C>A c.(436-438)CCA>ACA p.P146T MYST4_uc001jwm.1_Missense_Mutation_p.P146T|MYST4_uc001jwo.1_Missense_Mutation_p.P146T|MYST4_uc001jwp.1_Missense_Mutation_p.P146T NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 146 H15. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) CACCAACAACCCAGCCTTTCA 0.517 T CREBBP AML 63 59 --- --- --- --- PASS KCNMA1 3778 broad.mit.edu 37 10 78943265 78943265 + Nonsense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:78943265C>T uc001jxn.2 - 5 899 c.722G>A c.(721-723)TGG>TAG p.W241* KCNMA1_uc001jxj.2_Nonsense_Mutation_p.W241*|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Nonsense_Mutation_p.W61*|KCNMA1_uc001jxo.2_Nonsense_Mutation_p.W241*|KCNMA1_uc001jxm.2_Nonsense_Mutation_p.W241*|KCNMA1_uc001jxq.2_Nonsense_Mutation_p.W241* NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 241 Helical; Name=Segment S3; (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) CAGCCAGAACCACAATTTATC 0.438 22 50 --- --- --- --- PASS C10orf58 84293 broad.mit.edu 37 10 82185667 82185667 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:82185667G>T uc001kcc.3 + 4 476 c.316G>T c.(316-318)GGC>TGC p.G106C C10orf58_uc001kcd.3_Missense_Mutation_p.G95C|C10orf58_uc001kce.3_Missense_Mutation_p.G106C|C10orf58_uc001kcf.3_Missense_Mutation_p.G106C NM_032333 NP_115709 Q9BRX8 CJ058_HUMAN hypothetical protein LOC84293 precursor 106 extracellular region 0 Colorectal(32;0.229) GGACCAGCTGGGCGTCCCCCT 0.522 34 130 --- --- --- --- PASS SH2D4B 387694 broad.mit.edu 37 10 82369182 82369182 + Splice_Site SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:82369182G>T uc001kck.1 + 6 1291 c.861_splice c.e6-1 p.R287_splice SH2D4B_uc001kcl.1_Missense_Mutation_p.R239M|SH2D4B_uc001kcm.1_Missense_Mutation_p.R34M NM_207372 NP_997255 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B isoform 1 0 Colorectal(32;0.229) CTCTTCAGCAGGACCTGGGAG 0.483 27 91 --- --- --- --- PASS SH2D4B 387694 broad.mit.edu 37 10 82369183 82369183 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:82369183G>T uc001kck.1 + 6 1291 c.861G>T c.(859-861)AGG>AGT p.R287S SH2D4B_uc001kcl.1_Missense_Mutation_p.R239S|SH2D4B_uc001kcm.1_Missense_Mutation_p.R34S NM_207372 NP_997255 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B isoform 1 286 0 Colorectal(32;0.229) TCTTCAGCAGGACCTGGGAGC 0.483 28 91 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 88123739 88123739 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:88123739T>A uc001kdl.1 - 2 295 c.194A>T c.(193-195)AAG>ATG p.K65M GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 65 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) CTCGATGACCTTGATGGAGTA 0.612 Multiple Myeloma(13;0.14) 21 87 --- --- --- --- PASS OPN4 94233 broad.mit.edu 37 10 88423458 88423458 + Nonsense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:88423458C>T uc001kdq.2 + 9 1524 c.1297C>T c.(1297-1299)CAG>TAG p.Q433* OPN4_uc001kdp.2_Nonsense_Mutation_p.Q444*|OPN4_uc010qmk.1_Nonsense_Mutation_p.Q444*|OPN4_uc009xsx.1_Nonsense_Mutation_p.Q103* NM_033282 NP_150598 Q9UHM6 OPN4_HUMAN opsin 4 isoform 1 433 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity ovary(1) 1 GGGAGCTGCCCAGCAAGCAAA 0.617 8 11 --- --- --- --- PASS FAM22A 728118 broad.mit.edu 37 10 88988233 88988233 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:88988233G>C uc001kek.2 + 2 979 c.596G>C c.(595-597)GGG>GCG p.G199A LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron NM_001099338 NP_001092808 Q8IVF1 FA22A_HUMAN hypothetical protein LOC728118 199 0 AGTGGGGCCGGGGCTTCCAAC 0.662 5 91 --- --- --- --- PASS KIF11 3832 broad.mit.edu 37 10 94381142 94381142 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:94381142G>C uc001kic.2 + 10 1437 c.1129G>C c.(1129-1131)GAG>CAG p.E377Q KIF11_uc010qnq.1_Intron NM_004523 NP_004514 P52732 KIF11_HUMAN kinesin family member 11 377 Potential. blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding skin(1) 1 TCTTGTGTAGGAGTATACGGA 0.373 47 59 --- --- --- --- PASS PLCE1 51196 broad.mit.edu 37 10 95892039 95892039 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:95892039G>T uc001kjk.2 + 3 1949 c.1315G>T c.(1315-1317)GGT>TGT p.G439C PLCE1_uc010qnx.1_Missense_Mutation_p.G439C|PLCE1_uc001kjm.2_Missense_Mutation_p.G131C NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 439 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) GATAAGCGTTGGTCCATGCTT 0.488 53 73 --- --- --- --- PASS SORBS1 10580 broad.mit.edu 37 10 97135751 97135751 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:97135751C>T uc001kkp.2 - 17 1761 c.1716G>A c.(1714-1716)TCG>TCA p.S572S SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Silent_p.S174S|SORBS1_uc001kkn.2_Silent_p.S359S|SORBS1_uc001kkm.2_Silent_p.S428S|SORBS1_uc001kko.2_Silent_p.S594S|SORBS1_uc001kkq.2_Silent_p.S457S|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Silent_p.S526S|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Intron NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 572 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) ACTCCAATTCCGAAAAGAATT 0.378 16 99 --- --- --- --- PASS ARHGAP19 84986 broad.mit.edu 37 10 99025847 99025847 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:99025847G>A uc001knb.2 - 2 121 c.92C>T c.(91-93)TCT>TTT p.S31F ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.S22F|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.S31F|ARHGAP19_uc009xvk.2_Intron NM_032900 NP_116289 Q14CB8 RHG19_HUMAN Rho GTPase activating protein 19 31 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|nucleus GTPase activator activity 0 Colorectal(252;0.0854) Epithelial(162;7.65e-09)|all cancers(201;4.49e-07) TCGAAGGGAAGAATCATTGCA 0.393 53 70 --- --- --- --- PASS SEC31B 25956 broad.mit.edu 37 10 102256950 102256950 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:102256950T>C uc001krc.1 - 17 2180 c.2078A>G c.(2077-2079)GAG>GGG p.E693G SEC31B_uc010qpo.1_Missense_Mutation_p.E692G|SEC31B_uc001krd.1_Missense_Mutation_p.E230G|SEC31B_uc001krf.1_Missense_Mutation_p.E230G|SEC31B_uc001kre.1_Missense_Mutation_p.E230G|SEC31B_uc001krg.1_Missense_Mutation_p.E262G NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 693 WD 7. 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) CACCAGCCGCTCCACACTCCC 0.607 50 47 --- --- --- --- PASS INA 9118 broad.mit.edu 37 10 105036977 105036977 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:105036977C>G uc001kws.2 + 1 58 c.9C>G c.(7-9)TTC>TTG p.F3L uc001kwr.2_5'Flank|INA_uc009xxj.2_Missense_Mutation_p.F3L NM_032727 NP_116116 Q16352 AINX_HUMAN internexin neuronal intermediate filament 3 Head. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton ovary(1)|breast(1) 2 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) CCATGAGCTTCGGCTCGGAGC 0.627 15 25 --- --- --- --- PASS PDCD11 22984 broad.mit.edu 37 10 105178383 105178383 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:105178383G>T uc001kwy.1 + 15 2185 c.2098G>T c.(2098-2100)GGG>TGG p.G700W NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 700 S1 motif 7. 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) CCAGAGCGAGGGGCGTGTTGT 0.542 20 47 --- --- --- --- PASS PDCD11 22984 broad.mit.edu 37 10 105178384 105178384 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:105178384G>T uc001kwy.1 + 15 2186 c.2099G>T c.(2098-2100)GGG>GTG p.G700V NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 700 S1 motif 7. 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) CAGAGCGAGGGGCGTGTTGTA 0.547 20 47 --- --- --- --- PASS OBFC1 79991 broad.mit.edu 37 10 105648830 105648830 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:105648830G>A uc001kxl.2 - 8 1024 c.949C>T c.(949-951)CAC>TAC p.H317Y OBFC1_uc001kxm.2_Missense_Mutation_p.H317Y|OBFC1_uc001kxn.2_RNA NM_024928 NP_079204 Q9H668 STN1_HUMAN oligonucleotide/oligosaccharide-binding fold 317 positive regulation of DNA replication|telomere maintenance via telomere lengthening protein binding|single-stranded telomeric DNA binding ovary(1) 1 Colorectal(252;0.178) Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151) TACCACTTACGATTTGGTTTC 0.373 42 118 --- --- --- --- PASS C10orf79 80217 broad.mit.edu 37 10 105971806 105971806 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:105971806C>A uc001kxw.2 - 5 810 c.694G>T c.(694-696)GCC>TCC p.A232S C10orf79_uc001kxx.3_Missense_Mutation_p.A232S|C10orf79_uc001kxy.1_Missense_Mutation_p.A232S|C10orf79_uc001kxz.2_Missense_Mutation_p.A232S NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 232 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) CCGGCAATGGCTGACAGTGGC 0.498 20 81 --- --- --- --- PASS CCDC147 159686 broad.mit.edu 37 10 106121841 106121841 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:106121841G>T uc001kyh.2 + 3 486 c.352G>T c.(352-354)GAG>TAG p.E118* NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 118 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GAAGGCCAAGGAGACGATTCT 0.478 20 77 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108439016 108439016 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:108439016G>T uc001kym.2 - 12 1746 c.1738C>A c.(1738-1740)CAG>AAG p.Q580K SORCS1_uc001kyl.2_Missense_Mutation_p.Q580K|SORCS1_uc009xxs.2_Missense_Mutation_p.Q580K|SORCS1_uc001kyn.1_Missense_Mutation_p.Q580K|SORCS1_uc001kyo.2_Missense_Mutation_p.Q580K NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 580 Lumenal (Potential).|BNR 4. integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TTTCTTACCTGTCTCCAGGTG 0.418 61 85 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108589406 108589406 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:108589406C>T uc001kym.2 - 3 660 c.652G>A c.(652-654)GAG>AAG p.E218K SORCS1_uc001kyl.2_Missense_Mutation_p.E218K|SORCS1_uc009xxs.2_Missense_Mutation_p.E218K|SORCS1_uc001kyn.1_Missense_Mutation_p.E218K|SORCS1_uc001kyo.2_Missense_Mutation_p.E218K NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 218 Lumenal (Potential).|BNR 1. integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TTCAGCTTCTCATAGGTTGTT 0.363 66 116 --- --- --- --- PASS ABLIM1 3983 broad.mit.edu 37 10 116361718 116361718 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:116361718C>A uc010qsg.1 - 2 346 c.247G>T c.(247-249)GCC>TCC p.A83S ABLIM1_uc010qsh.1_Missense_Mutation_p.A23S|ABLIM1_uc010qsi.1_Missense_Mutation_p.A23S|ABLIM1_uc010qsk.1_Missense_Mutation_p.A7S|ABLIM1_uc009xyp.2_Missense_Mutation_p.A17S|ABLIM1_uc001lbz.1_Missense_Mutation_p.A6S NM_002313 NP_002304 O14639 ABLM1_HUMAN actin-binding LIM protein 1 isoform a 83 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(1) 1 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) TGAGGGTGGGCCACTGAAAGA 0.493 20 69 --- --- --- --- PASS ATRNL1 26033 broad.mit.edu 37 10 117154178 117154178 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:117154178G>C uc001lcg.2 + 20 3571 c.3185G>C c.(3184-3186)TGC>TCC p.C1062S ATRNL1_uc010qsm.1_Missense_Mutation_p.C191S|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1062 Laminin EGF-like 2.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GCTTGTACATGCAGTGGCCAT 0.328 32 45 --- --- --- --- PASS PDZD8 118987 broad.mit.edu 37 10 119044377 119044377 + Missense_Mutation SNP C T T rs114690685 by1000genomes TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:119044377C>T uc001lde.1 - 5 2066 c.1867G>A c.(1867-1869)GTG>ATG p.V623M NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 623 Pro-rich. intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) GGAGGTGGCACCACCTTCTCT 0.478 74 104 --- --- --- --- PASS RGS10 6001 broad.mit.edu 37 10 121286930 121286930 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:121286930T>A uc001lee.2 - 1 32 c.32A>T c.(31-33)CAC>CTC p.H11L RGS10_uc001lef.2_Missense_Mutation_p.H5L|RGS10_uc001leg.2_Missense_Mutation_p.H19L NM_002925 NP_002916 O43665 RGS10_HUMAN regulator of G-protein signaling 10 isoform b 11 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|protein binding|signal transducer activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195) ATCGCTGTCGTGGATGTCTGC 0.537 29 40 --- --- --- --- PASS PPAPDC1A 196051 broad.mit.edu 37 10 122348813 122348813 + Splice_Site SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:122348813A>G uc001lev.1 + 7 969 c.617_splice c.e7-2 p.D206_splice PPAPDC1A_uc009xzl.1_Splice_Site_p.D143_splice|PPAPDC1A_uc001lew.1_Splice_Site|PPAPDC1A_uc001lex.1_Splice_Site_p.I56_splice|PPAPDC1A_uc001ley.1_Splice_Site_p.D85_splice NM_001030059 NP_001025230 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1) 1 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) TTTCCTGCCTAGATTCCTTTG 0.453 45 175 --- --- --- --- PASS C10orf137 26098 broad.mit.edu 37 10 127426970 127426970 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:127426970G>T uc001liq.1 + 15 2230 c.1937G>T c.(1936-1938)GGT>GTT p.G646V C10orf137_uc001lin.2_Missense_Mutation_p.G612V|C10orf137_uc001lio.1_Missense_Mutation_p.G612V|C10orf137_uc001lip.1_Missense_Mutation_p.G350V|C10orf137_uc001lir.2_Missense_Mutation_p.G140V|C10orf137_uc001lis.1_5'Flank NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 646 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) TCAAGAGGGGGTCCCGAGGGG 0.433 55 112 --- --- --- --- PASS DOCK1 1793 broad.mit.edu 37 10 128830580 128830580 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:128830580G>T uc001ljt.2 + 18 1909 c.1845G>T c.(1843-1845)CAG>CAT p.Q615H DOCK1_uc010qun.1_Missense_Mutation_p.Q636H NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 615 DHR-1. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) AACTGACTCAGAACGGTGCGT 0.577 4 5 --- --- --- --- PASS GLRX3 10539 broad.mit.edu 37 10 131967730 131967730 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:131967730G>T uc001lkm.1 + 7 769 c.747G>T c.(745-747)ATG>ATT p.M249I GLRX3_uc001lkn.1_Missense_Mutation_p.M249I|GLRX3_uc001lko.2_RNA NM_006541 NP_006532 O76003 GLRX3_HUMAN glutaredoxin 3 249 Glutaredoxin 2. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity 0 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) CTTCTGTGATGCTCTTTATGA 0.353 41 47 --- --- --- --- PASS DPYSL4 10570 broad.mit.edu 37 10 134016258 134016258 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:134016258G>A uc009ybb.2 + 12 1544 c.1390G>A c.(1390-1392)GGG>AGG p.G464R NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 464 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) TGTCACCCCGGGGGCGGGCCG 0.622 22 105 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 10 134660783 134660783 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:134660783C>T uc010qux.1 - 34 5173 c.5173G>A c.(5173-5175)GTA>ATA p.V1725I NM_017609 NP_060079 Homo sapiens cDNA, FLJ17989. TCTTCCTCTACCTCCAGCTCC 0.652 74 92 --- --- --- --- PASS TUBGCP2 10844 broad.mit.edu 37 10 135102436 135102436 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:135102436C>G uc001lmg.1 - 10 1806 c.1449G>C c.(1447-1449)GCG>GCC p.A483A TUBGCP2_uc001lmf.1_Silent_p.A76A|TUBGCP2_uc010qvc.1_Silent_p.A511A|TUBGCP2_uc009ybk.1_Silent_p.A483A|TUBGCP2_uc010qvd.1_Silent_p.A353A|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 483 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) GCTCCACATACGCCCGCTCTT 0.517 18 83 --- --- --- --- PASS ART5 116969 broad.mit.edu 37 11 3661139 3661139 + Missense_Mutation SNP C A A rs143088148 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:3661139C>A uc001lyb.1 - 2 913 c.520G>T c.(520-522)GAC>TAC p.D174Y ART5_uc001lyc.1_Missense_Mutation_p.D174Y|ART5_uc001lyd.2_Missense_Mutation_p.D174Y|ART5_uc009yea.2_Missense_Mutation_p.D174Y NM_053017 NP_443750 Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 precursor 174 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) CGGACAGAGTCTCCCAGCCTC 0.607 46 40 --- --- --- --- PASS OR52K1 390036 broad.mit.edu 37 11 4510584 4510584 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:4510584G>T uc001lza.1 + 1 454 c.454G>T c.(454-456)GCC>TCC p.A152S NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) GGCTGCTGTGGCCCGGGCTGT 0.582 22 25 --- --- --- --- PASS OR52M1 119772 broad.mit.edu 37 11 4567167 4567167 + Nonsense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:4567167T>A uc010qyf.1 + 1 747 c.747T>A c.(745-747)TGT>TGA p.C249* NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCACCTCTGTGCCATCCTGA 0.512 78 75 --- --- --- --- PASS OR51E1 143503 broad.mit.edu 37 11 4674143 4674143 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:4674143C>G uc001lzi.3 + 2 531 c.387C>G c.(385-387)ATC>ATG p.I129M NM_152430 NP_689643 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, 128 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|pancreas(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGTGGCCATCTGTCACCCAC 0.552 61 34 --- --- --- --- PASS OR52A5 390054 broad.mit.edu 37 11 5152960 5152960 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:5152960G>T uc010qyx.1 - 1 913 c.913C>A c.(913-915)CAT>AAT p.H305N NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 305 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) TTCACAATATGGTCACGAATT 0.343 42 39 --- --- --- --- PASS HBE1 3046 broad.mit.edu 37 11 5290708 5290708 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:5290708C>A uc001mal.1 - 2 544 c.291G>T c.(289-291)CTG>CTT p.L97L HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.L97L NM_005330 NP_005321 P02100 HBE_HUMAN epsilon globin 97 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATCCACATGCAGCTTGTCAC 0.423 55 65 --- --- --- --- PASS OR52E6 390078 broad.mit.edu 37 11 5862226 5862226 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:5862226C>A uc010qzq.1 - 1 902 c.902G>T c.(901-903)AGG>ATG p.R301M TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 301 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) CACTGTCTCCCTAATATGTTT 0.438 58 54 --- --- --- --- PASS OR52L1 338751 broad.mit.edu 37 11 6007816 6007816 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:6007816G>T uc001mcd.2 - 1 400 c.345C>A c.(343-345)TGC>TGA p.C115* NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, 115 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGGATCAGGCAGACGATGT 0.552 23 17 --- --- --- --- PASS ARFIP2 23647 broad.mit.edu 37 11 6500011 6500011 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:6500011C>A uc001mdk.2 - 5 631 c.494G>T c.(493-495)GGT>GTT p.G165V ARFIP2_uc001mdl.2_Missense_Mutation_p.G165V|ARFIP2_uc010ral.1_Missense_Mutation_p.G127V|ARFIP2_uc010ram.1_Missense_Mutation_p.G71V|ARFIP2_uc010ran.1_Missense_Mutation_p.G198V|ARFIP2_uc001mdm.2_Intron|FXC1_uc001mdn.3_5'Flank|FXC1_uc001mdo.3_5'Flank NM_012402 NP_036534 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 165 AH. actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAAGGCATCACCCAGTGCATG 0.622 22 18 --- --- --- --- PASS OR10A4 283297 broad.mit.edu 37 11 6898600 6898600 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:6898600C>A uc010rat.1 + 1 722 c.722C>A c.(721-723)ACC>AAC p.T241N NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 241 Helical; Name=6; (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) GCATTCTCCACCTGTTCCGCC 0.517 67 43 --- --- --- --- PASS OR2D2 120776 broad.mit.edu 37 11 6913008 6913008 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:6913008C>A uc010rau.1 - 1 724 c.724G>T c.(724-726)GGC>TGC p.G242C NM_003700 NP_003691 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGGTGGGAGCCACAGGTAGAA 0.428 29 38 --- --- --- --- PASS OR10A3 26496 broad.mit.edu 37 11 7960899 7960899 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:7960899C>A uc010rbi.1 - 1 169 c.169G>T c.(169-171)GTT>TTT p.V57F NM_001003745 NP_001003745 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, 57 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TACATGGGAACGTGGAGGCTC 0.483 45 53 --- --- --- --- PASS ABCC8 6833 broad.mit.edu 37 11 17450148 17450148 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:17450148G>T uc001mnc.2 - 13 2013 c.1887C>A c.(1885-1887)CCC>CCA p.P629P NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 629 Cytoplasmic (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CCTGAGGTGTGGGCTCATGGG 0.627 36 51 --- --- --- --- PASS CSRP3 8048 broad.mit.edu 37 11 19209755 19209755 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:19209755C>T uc001mpk.2 - 3 326 c.209G>A c.(208-210)GGG>GAG p.G70E NM_003476 NP_003467 P50461 CSRP3_HUMAN cysteine and glycine-rich protein 3 70 Gly-rich. cell differentiation|skeletal muscle tissue development cytoskeleton|nucleus protein binding|zinc ion binding 0 ATACCCGATCCCTTTGGGGCC 0.607 76 85 --- --- --- --- PASS DBX1 120237 broad.mit.edu 37 11 20177907 20177907 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:20177907G>A uc001mpw.1 - 4 1002 c.1002C>T c.(1000-1002)TCC>TCT p.S334S NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN developing brain homeobox 1 295 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCTGGGGGTCGGAGGACGCGT 0.731 11 23 --- --- --- --- PASS PRMT3 10196 broad.mit.edu 37 11 20515791 20515791 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:20515791G>C uc001mqb.2 + 15 1694 c.1477G>C c.(1477-1479)GTT>CTT p.V493L PRMT3_uc001mqc.2_Missense_Mutation_p.V416L|PRMT3_uc010rdn.1_Missense_Mutation_p.V431L NM_005788 NP_005779 O60678 ANM3_HUMAN protein arginine methyltransferase 3 isoform 1 493 zinc ion binding 0 ACCATTTTCAGTTAAAGCAGG 0.378 112 90 --- --- --- --- PASS NELL1 4745 broad.mit.edu 37 11 20940811 20940811 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:20940811C>A uc001mqe.2 + 7 843 c.690C>A c.(688-690)TGC>TGA p.C230* NELL1_uc001mqf.2_Nonsense_Mutation_p.C230*|NELL1_uc009yid.2_Nonsense_Mutation_p.C258*|NELL1_uc010rdo.1_Nonsense_Mutation_p.C173*|NELL1_uc010rdp.1_Intron NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 230 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 GCCCAACCTGCAGTGATTTCT 0.279 50 38 --- --- --- --- PASS BBOX1 8424 broad.mit.edu 37 11 27148882 27148882 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:27148882G>A uc001mre.1 + 9 1414 c.1046G>A c.(1045-1047)CGA>CAA p.R349Q BBOX1_uc009yih.1_Missense_Mutation_p.R349Q|BBOX1_uc001mrg.1_Missense_Mutation_p.R349Q NM_003986 NP_003977 O75936 BODG_HUMAN gamma-butyrobetaine dioxygenase 349 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Succinic acid(DB00139)|Vitamin C(DB00126) CTTCATGGCCGACGTAGCTAT 0.413 52 81 --- --- --- --- PASS KCNA4 3739 broad.mit.edu 37 11 30033380 30033380 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:30033380C>T uc001msk.2 - 2 1998 c.846G>A c.(844-846)AGG>AGA p.R282R NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 282 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CGGGGAGGGCCCTGTCTTCCT 0.512 26 95 --- --- --- --- PASS MPPED2 744 broad.mit.edu 37 11 30516883 30516883 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:30516883C>A uc001msr.2 - 3 616 c.496G>T c.(496-498)GAG>TAG p.E166* MPPED2_uc001msq.3_Nonsense_Mutation_p.E166*|MPPED2_uc009yji.2_Nonsense_Mutation_p.E40* NM_001584 NP_001575 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 166 nervous system development hydrolase activity|metal ion binding skin(1) 1 ACTGTTACCTCCGAATCTTGT 0.418 38 72 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 30953472 30953472 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:30953472G>C uc009yjk.1 - 10 1156 c.1087C>G c.(1087-1089)CTT>GTT p.L363V uc009yjl.1_3'UTR RecName: Full=Doublecortin domain-containing protein 5; CTCGGAACAAGCAGTCCTTGT 0.383 30 38 --- --- --- --- PASS RCN1 5954 broad.mit.edu 37 11 32119896 32119896 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:32119896G>T uc010reb.1 + 3 715 c.449G>T c.(448-450)GGA>GTA p.G150V RCN1_uc010rea.1_Missense_Mutation_p.G99V|RCN1_uc001mtk.2_5'UTR NM_002901 NP_002892 Q15293 RCN1_HUMAN reticulocalbin 1 precursor 150 EF-hand 2. endoplasmic reticulum lumen calcium ion binding large_intestine(1) 1 Lung SC(675;0.225) CATCCTGCAGGAAACCCCGCA 0.443 31 76 --- --- --- --- PASS WIT1 51352 broad.mit.edu 37 11 32460663 32460663 + RNA SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:32460663C>T uc010rec.1 + 2 c.1381C>T WIT1_uc010red.1_RNA|WIT1_uc010ree.1_Intron NR_023920 full-length cDNA clone CS0DC024YP12 of Neuroblastoma Cot 25-normalized of Homo sapiens (human). 0 Breast(20;0.247) GTGCGCACGCCTGGGCCGCCC 0.667 9 11 --- --- --- --- PASS C11orf41 25758 broad.mit.edu 37 11 33612940 33612940 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:33612940C>A uc001mup.3 + 11 3975 c.3851C>A c.(3850-3852)ACC>AAC p.T1284N C11orf41_uc001mun.1_Intron NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 1278 integral to membrane ovary(2) 2 ACCATCAAGACCGCCAAATCC 0.522 43 77 --- --- --- --- PASS RAG1 5896 broad.mit.edu 37 11 36597797 36597797 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:36597797G>T uc001mwu.3 + 2 3067 c.2943G>T c.(2941-2943)CAG>CAT p.Q981H RAG1_uc001mwt.2_Intron NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 981 Q -> P (in T-CMVA). histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) ATGCCAGGCAGTCCAAATGCT 0.438 Familial_Hemophagocytic_Lymphohistiocytosis 73 92 --- --- --- --- PASS LRRC4C 57689 broad.mit.edu 37 11 40137179 40137179 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:40137179C>A uc001mxa.1 - 2 2628 c.664G>T c.(664-666)GAT>TAT p.D222Y LRRC4C_uc001mxc.1_Missense_Mutation_p.D218Y|LRRC4C_uc001mxd.1_Missense_Mutation_p.D218Y|LRRC4C_uc001mxb.1_Missense_Mutation_p.D218Y NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 222 LRR 7. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) TCCAGCTCATCTAGTTTTATG 0.468 18 129 --- --- --- --- PASS LRP4 4038 broad.mit.edu 37 11 46911596 46911596 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:46911596T>C uc001ndn.3 - 15 2137 c.1991A>G c.(1990-1992)AAT>AGT p.N664S NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 664 Extracellular (Potential).|LDL-receptor class B 5. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) GTTAGCGCTATTGATGCTCTT 0.532 OREG0020948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 147 --- --- --- --- PASS MYBPC3 4607 broad.mit.edu 37 11 47357557 47357557 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:47357557G>T uc001nfa.3 - 25 2663 c.2608C>A c.(2608-2610)CCC>ACC p.P870T MYBPC3_uc010rhl.1_RNA NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 869 Fibronectin type-III 2. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) GGTTCGCTGGGGGGACCTGGG 0.647 9 12 --- --- --- --- PASS MYBPC3 4607 broad.mit.edu 37 11 47361282 47361282 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:47361282C>A uc001nfa.3 - 20 2042 c.1987G>T c.(1987-1989)GCT>TCT p.A663S MYBPC3_uc010rhl.1_RNA NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 662 Ig-like C2-type 5. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) TTATTTCCAGCTACAACCACA 0.537 3 62 --- --- --- --- PASS RAPSN 5913 broad.mit.edu 37 11 47469657 47469657 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:47469657C>G uc001nfi.1 - 2 452 c.238G>C c.(238-240)GAC>CAC p.D80H RAPSN_uc001nfj.1_Missense_Mutation_p.D80H|RAPSN_uc009yls.1_Missense_Mutation_p.D80H NM_005055 NP_005046 Q13702 RAPSN_HUMAN 43 kD receptor-associated protein of the synapse 80 synaptic transmission, cholinergic cell junction|cytoskeleton|postsynaptic membrane acetylcholine receptor binding|zinc ion binding ovary(1) 1 AGGAGGAAGTCGGCATCCTCC 0.617 13 69 --- --- --- --- PASS AGBL2 79841 broad.mit.edu 37 11 47711888 47711888 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:47711888C>A uc001ngg.2 - 9 1471 c.1371G>T c.(1369-1371)TTG>TTT p.L457F AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.L419F|AGBL2_uc001ngh.1_Missense_Mutation_p.L401F NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN carboxypeptidase 2, cytosolic 457 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 CTCTGGCACTCAAGACCACAG 0.512 111 155 --- --- --- --- PASS FNBP4 23360 broad.mit.edu 37 11 47744565 47744565 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:47744565G>A uc009ylv.2 - 15 2921 c.2768C>T c.(2767-2769)CCA>CTA p.P923L FNBP4_uc001ngi.2_Missense_Mutation_p.P237L|FNBP4_uc001ngj.2_Missense_Mutation_p.P830L NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 923 Pro-rich. ovary(1) 1 TTCAGGTGGTGGCATTTTGGG 0.254 4 6 --- --- --- --- PASS OR4P4 81300 broad.mit.edu 37 11 55405873 55405873 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:55405873G>T uc010rij.1 + 1 40 c.40G>T c.(40-42)GGG>TGG p.G14W NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TATTCTCTTGGGGTTTTCCCA 0.313 123 70 --- --- --- --- PASS OR5D13 390142 broad.mit.edu 37 11 55541387 55541387 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:55541387C>A uc010ril.1 + 1 474 c.474C>A c.(472-474)TCC>TCA p.S158S NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 158 Helical; Name=4; (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) TAGTGTGCTCCCTGATACTCA 0.408 112 164 --- --- --- --- PASS OR5D16 390144 broad.mit.edu 37 11 55607085 55607085 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:55607085G>T uc010rio.1 + 1 858 c.858G>T c.(856-858)TTG>TTT p.L286F NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) TGATCCCCTTGTTGAATCCCC 0.408 43 47 --- --- --- --- PASS OR5F1 338674 broad.mit.edu 37 11 55761264 55761264 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:55761264C>A uc010riv.1 - 1 838 c.838G>T c.(838-840)GTG>TTG p.V280L NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) GGAATCACCACTGTGTAGAAC 0.443 48 73 --- --- --- --- PASS OR5F1 338674 broad.mit.edu 37 11 55761943 55761943 + Silent SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:55761943G>C uc010riv.1 - 1 159 c.159C>G c.(157-159)TCC>TCG p.S53S NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) TGTGAAGCTGGGAATCGATCC 0.418 32 34 --- --- --- --- PASS OR5AS1 219447 broad.mit.edu 37 11 55798057 55798057 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:55798057C>A uc010riw.1 + 1 163 c.163C>A c.(163-165)CTT>ATT p.L55I NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 55 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) TAATTCAAGCCTTCAAATTCC 0.343 18 100 --- --- --- --- PASS OR8J3 81168 broad.mit.edu 37 11 55904716 55904716 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:55904716G>A uc010riz.1 - 1 479 c.479C>T c.(478-480)TCA>TTA p.S160L NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 160 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) TATACAAGGTGAAACCACAAT 0.428 28 109 --- --- --- --- PASS OR5T1 390155 broad.mit.edu 37 11 56043850 56043850 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:56043850A>T uc001nio.1 + 1 736 c.736A>T c.(736-738)AGG>TGG p.R246W NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 246 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) TGCTGAAGGGAGGAGAAAAGT 0.438 65 234 --- --- --- --- PASS OR8H1 219469 broad.mit.edu 37 11 56057656 56057656 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:56057656C>A uc010rje.1 - 1 883 c.883G>T c.(883-885)GAA>TAA p.E295* NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) TTTTTAACTTCTTTGTTTCTA 0.343 96 145 --- --- --- --- PASS OR5AP2 338675 broad.mit.edu 37 11 56409760 56409760 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:56409760A>T uc001njb.1 - 1 156 c.156T>A c.(154-156)ATT>ATA p.I52I NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, 52 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 TAATCAATACAATCATCCCCA 0.428 17 113 --- --- --- --- PASS OR9G9 504191 broad.mit.edu 37 11 56468339 56468339 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:56468339C>A uc010rjn.1 + 1 476 c.476C>A c.(475-477)ACC>AAC p.T159N NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 159 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCAATCATCACCAAGAAAACG 0.463 25 221 --- --- --- --- PASS APLNR 187 broad.mit.edu 37 11 57003959 57003959 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:57003959C>A uc001njo.2 - 1 969 c.520G>T c.(520-522)GAG>TAG p.E174* APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 174 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 GTGGTGTTCTCCAAGTCCCCG 0.647 20 40 --- --- --- --- PASS SSRP1 6749 broad.mit.edu 37 11 57099251 57099251 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:57099251C>A uc001njt.2 - 9 1381 c.1114G>T c.(1114-1116)GAT>TAT p.D372Y NM_003146 NP_003137 Q08945 SSRP1_HUMAN structure specific recognition protein 1 372 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding ovary(2) 2 GAGATCTCATCGAAGCGGATG 0.517 28 33 --- --- --- --- PASS OR10Q1 219960 broad.mit.edu 37 11 57995616 57995616 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:57995616G>T uc010rkd.1 - 1 732 c.732C>A c.(730-732)TCC>TCA p.S244S NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) AGGAGCAGGTGGAGAAGGCCC 0.632 34 29 --- --- --- --- PASS FAM111B 374393 broad.mit.edu 37 11 58892264 58892264 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:58892264C>A uc001nnl.2 + 4 937 c.694C>A c.(694-696)CGG>AGG p.R232R FAM111B_uc001nnm.2_Silent_p.R202R|FAM111B_uc010rko.1_Silent_p.R202R NM_198947 NP_945185 Q6SJ93 F111B_HUMAN hypothetical protein LOC374393 isoform a 232 catalytic activity ovary(2) 2 TGGCCGTTTTCGGTCTGACAT 0.373 4 98 --- --- --- --- PASS MPEG1 219972 broad.mit.edu 37 11 58979250 58979250 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:58979250G>T uc001nnu.3 - 1 1245 c.1089C>A c.(1087-1089)AAC>AAA p.N363K NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 363 Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) CATCATCCGTGTTGGCCTGAA 0.483 68 81 --- --- --- --- PASS MS4A3 932 broad.mit.edu 37 11 59828757 59828757 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:59828757G>T uc001nom.2 + 2 252 c.124G>T c.(124-126)GAT>TAT p.D42Y MS4A3_uc001non.2_Missense_Mutation_p.D42Y|MS4A3_uc001noo.2_Intron NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 42 Cytoplasmic (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity ovary(2)|skin(1) 3 all_epithelial(135;0.245) TGGATCACCAGATTATCAGAA 0.418 30 132 --- --- --- --- PASS FADS3 3995 broad.mit.edu 37 11 61645001 61645001 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:61645001C>A uc001nsm.2 - 7 1020 c.867G>T c.(865-867)CTG>CTT p.L289L FADS3_uc001nsn.2_Silent_p.L165L NM_021727 NP_068373 Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 289 Lumenal (Potential). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water ovary(1)|pancreas(1) 2 GCATGCACACCAGCATGTACG 0.637 12 45 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62290294 62290294 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:62290294C>T uc001ntl.2 - 5 11895 c.11595G>A c.(11593-11595)GAG>GAA p.E3865E AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3865 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGATGTTCATCTCAGGCATCT 0.468 88 239 --- --- --- --- PASS STX5 6811 broad.mit.edu 37 11 62591750 62591750 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:62591750T>C uc001nvh.2 - 10 950 c.796A>G c.(796-798)ATC>GTC p.I266V STX5_uc010rmi.1_Missense_Mutation_p.I170V|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.I212V|STX5_uc010rmj.1_Missense_Mutation_p.I266V|STX5_uc001nvj.2_Missense_Mutation_p.I81V NM_003164 NP_003155 Q13190 STX5_HUMAN syntaxin 5 266 t-SNARE coiled-coil homology.|Cytoplasmic (Potential). intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity ovary(1)|breast(1) 2 CGACTCTGGATGTAGGAATCC 0.512 36 112 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64453121 64453121 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:64453121G>T uc001oar.2 - 7 1588 c.1149C>A c.(1147-1149)CGC>CGA p.R383R NRXN2_uc001oas.2_Silent_p.R359R|NRXN2_uc001oaq.2_Silent_p.R57R NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor 203 Extracellular (Potential).|Laminin G-like. cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CTCCTACCTGGCGCAGGTTTC 0.607 49 111 --- --- --- --- PASS DPF2 5977 broad.mit.edu 37 11 65113402 65113402 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:65113402C>G uc001odm.2 + 8 789 c.777C>G c.(775-777)TCC>TCG p.S259S DPF2_uc001odn.2_Silent_p.S273S|DPF2_uc010roe.1_Intron NM_006268 NP_006259 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 259 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 TCTCTGTAGCCAAAAAGGGTC 0.517 37 141 --- --- --- --- PASS SSSCA1 10534 broad.mit.edu 37 11 65338992 65338992 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:65338992A>T uc001oek.2 + 4 407 c.387A>T c.(385-387)GCA>GCT p.A129A FAM89B_uc001oen.2_5'Flank|FAM89B_uc001oem.2_5'Flank|FAM89B_uc001oel.2_5'Flank NM_006396 NP_006387 O60232 SSA27_HUMAN Sjogren syndrome/scleroderma autoantigen 1 129 cell division|mitosis protein binding ovary(1)|skin(1) 2 AGGGAGCTGCAGCAGGACTCA 0.652 28 107 --- --- --- --- PASS PCNXL3 399909 broad.mit.edu 37 11 65397058 65397058 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:65397058G>T uc001oey.2 + 26 4068 c.4068G>T c.(4066-4068)CTG>CTT p.L1356L PCNXL3_uc001oez.2_Silent_p.L243L NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1356 integral to membrane 0 AGCACACACTGTGTGGGGACC 0.577 7 25 --- --- --- --- PASS TSGA10IP 254187 broad.mit.edu 37 11 65714655 65714655 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:65714655G>T uc001ogk.1 + 5 391 c.359G>T c.(358-360)CGG>CTG p.R120L TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_Intron NM_152762 NP_689975 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein 120 0 ACAGATGTCCGGGCTGTGCTT 0.637 6 11 --- --- --- --- PASS CD248 57124 broad.mit.edu 37 11 66083426 66083426 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:66083426G>T uc001ohm.1 - 1 1090 c.1073C>A c.(1072-1074)GCC>GAC p.A358D NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 358 Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) GGAAGCCTGGGCACCCATGGC 0.592 14 49 --- --- --- --- PASS CD248 57124 broad.mit.edu 37 11 66083757 66083757 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:66083757C>A uc001ohm.1 - 1 759 c.742G>T c.(742-744)GAG>TAG p.E248* NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 248 Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) TCCACCTCCTCCACACATTCG 0.687 10 29 --- --- --- --- PASS RBM4B 83759 broad.mit.edu 37 11 66444332 66444332 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:66444332C>G uc001oja.2 - 1 888 c.219G>C c.(217-219)AAG>AAC p.K73N RBM4B_uc001ojb.2_Missense_Mutation_p.K73N NM_031492 NP_113680 Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 73 circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding 0 AAGCTTTGCTCTTATTCTTGC 0.493 82 221 --- --- --- --- PASS FGF19 9965 broad.mit.edu 37 11 69514229 69514229 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:69514229C>A uc001opf.2 - 3 915 c.452G>T c.(451-453)CGG>CTG p.R151L NM_005117 NP_005108 O95750 FGF19_HUMAN fibroblast growth factor 19 precursor 151 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade extracellular region fibroblast growth factor receptor binding|growth factor activity skin(1) 1 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) GTACAGCTGCCGCTGTTTGGC 0.582 37 58 --- --- --- --- PASS SHANK2 22941 broad.mit.edu 37 11 70332401 70332401 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:70332401C>T uc001oqc.2 - 21 4075 c.3997G>A c.(3997-3999)GAG>AAG p.E1333K SHANK2_uc010rqn.1_Missense_Mutation_p.E745K|SHANK2_uc001opz.2_Missense_Mutation_p.E738K|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 954 SH3-binding (Potential). intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TCTGCCTTCTCGTCCTCTTCC 0.602 16 74 --- --- --- --- PASS SHANK2 22941 broad.mit.edu 37 11 70332942 70332942 + Silent SNP C T T rs138180057 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:70332942C>T uc001oqc.2 - 21 3534 c.3456G>A c.(3454-3456)GAG>GAA p.E1152E SHANK2_uc010rqn.1_Silent_p.E564E|SHANK2_uc001opz.2_Silent_p.E557E|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 773 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding p.E557E(1) ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GGTTTTCGGGCTCCCTGGGCG 0.677 15 44 --- --- --- --- PASS NADSYN1 55191 broad.mit.edu 37 11 71184686 71184686 + Missense_Mutation SNP G C C rs137910047 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:71184686G>C uc001oqn.2 + 8 746 c.620G>C c.(619-621)CGC>CCC p.R207P NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 207 CN hydrolase. R -> H (in Ref. 3; CAG33567). NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CAAGTGCTGCGCAAAGCCAAC 0.557 23 80 --- --- --- --- PASS PGM2L1 283209 broad.mit.edu 37 11 74047787 74047787 + Silent SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:74047787T>C uc001ovb.1 - 14 2075 c.1779A>G c.(1777-1779)TTA>TTG p.L593L NM_173582 NP_775853 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 593 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity ovary(1) 1 Breast(11;3.32e-06) CTTCCTCCAGTAAAGCAGTGT 0.353 29 61 --- --- --- --- PASS PAK1 5058 broad.mit.edu 37 11 77091007 77091007 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:77091007T>A uc001oyh.3 - 3 756 c.223A>T c.(223-225)ATT>TTT p.I75F PAK1_uc010rso.1_5'UTR|PAK1_uc001oyg.3_Missense_Mutation_p.I75F|PAK1_uc001oyi.1_Missense_Mutation_p.I75F NM_002576 NP_002567 Q13153 PAK1_HUMAN p21-activated kinase 1 isoform 2 75 CRIB.|GTPase-binding (By similarity).|Autoregulatory region. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity skin(2)|stomach(1)|lung(1) 4 all_cancers(14;1.75e-18) GGGAGAGAAATCTCTGGCCGC 0.393 23 74 --- --- --- --- PASS PRCP 5547 broad.mit.edu 37 11 82536103 82536103 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:82536103C>G uc001ozs.2 - 9 1449 c.1336G>C c.(1336-1338)GTT>CTT p.V446L PRCP_uc001ozr.2_Missense_Mutation_p.V467L NM_005040 NP_005031 P42785 PCP_HUMAN prolylcarboxypeptidase isoform 1 preproprotein 446 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity skin(1) 1 GTGACTGCAACCAGAGTGTCT 0.473 16 35 --- --- --- --- PASS DLG2 1740 broad.mit.edu 37 11 83585492 83585492 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:83585492C>T uc001paj.2 - 11 1524 c.1221G>A c.(1219-1221)ATG>ATA p.M407I DLG2_uc001pai.2_Missense_Mutation_p.M304I|DLG2_uc010rsy.1_Missense_Mutation_p.M374I|DLG2_uc010rsz.1_Missense_Mutation_p.M407I|DLG2_uc010rta.1_Missense_Mutation_p.M407I|DLG2_uc001pak.2_Missense_Mutation_p.M512I|DLG2_uc010rtb.1_Missense_Mutation_p.M374I|DLG2_uc001pal.1_Missense_Mutation_p.M407I|DLG2_uc001pam.1_Missense_Mutation_p.M446I NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 407 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GTTGGAGAGTCATTGAAGGCT 0.343 20 58 --- --- --- --- PASS CCDC83 220047 broad.mit.edu 37 11 85630407 85630407 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:85630407G>T uc001pbh.1 + 11 1608 c.1096G>T c.(1096-1098)GGC>TGC p.G366C CCDC83_uc001pbg.1_Missense_Mutation_p.G397C|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.G266C NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 366 skin(1) 1 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TGTAAACTTGGGCCCCCTGGG 0.398 43 109 --- --- --- --- PASS FOLH1B 219595 broad.mit.edu 37 11 89424086 89424086 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:89424086A>G uc001pda.2 + 11 1262 c.736A>G c.(736-738)AGT>GGT p.S246G NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 246 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 ACTGTATCACAGTGTCTATGA 0.368 24 60 --- --- --- --- PASS NAALAD2 10003 broad.mit.edu 37 11 89896533 89896533 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:89896533C>A uc001pdf.3 + 10 1240 c.1131C>A c.(1129-1131)GAC>GAA p.D377E NAALAD2_uc009yvx.2_Missense_Mutation_p.D344E|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Missense_Mutation_p.D284E NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 377 Extracellular (Potential).|NAALADase. Zinc 2; catalytic.|Zinc 1. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GAGCTATTGACCCAACCAGTG 0.413 61 186 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92088254 92088254 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:92088254C>A uc001pdj.3 + 1 2993 c.2976C>A c.(2974-2976)ATC>ATA p.I992I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 992 Cadherin 9.|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) GTGGTGCCATCCGCTTGAGCA 0.463 TCGA Ovarian(4;0.039) 14 37 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92534453 92534453 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:92534453A>T uc001pdj.3 + 9 8291 c.8274A>T c.(8272-8274)ATA>ATT p.I2758I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2758 Extracellular (Potential).|Cadherin 25. 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) TATTCGTCATAGAACAGGAAA 0.478 TCGA Ovarian(4;0.039) 13 37 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92564924 92564924 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:92564924G>T uc001pdj.3 + 13 9635 c.9618G>T c.(9616-9618)CGG>CGT p.R3206R NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3206 Cadherin 29.|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) TCAGCGTGCGGGCCACTGACC 0.562 TCGA Ovarian(4;0.039) 6 16 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92577660 92577660 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:92577660C>G uc001pdj.3 + 18 11144 c.11127C>G c.(11125-11127)AGC>AGG p.S3709R FAT3_uc001pdi.3_Missense_Mutation_p.S149R NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3709 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) AGATGCACAGCAGCGAGTTCT 0.547 TCGA Ovarian(4;0.039) 3 14 --- --- --- --- PASS MTMR2 8898 broad.mit.edu 37 11 95595495 95595495 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:95595495C>A uc001pfu.2 - 4 551 c.298G>T c.(298-300)GCT>TCT p.A100S MTMR2_uc001pfv.2_Missense_Mutation_p.A28S|MTMR2_uc001pfs.2_Missense_Mutation_p.A28S|MTMR2_uc001pft.2_Missense_Mutation_p.A28S|MTMR2_uc010ruj.1_Missense_Mutation_p.A83S NM_016156 NP_057240 Q13614 MTMR2_HUMAN myotubularin-related protein 2 isoform 1 100 GRAM. nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity pancreas(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CCTCGTACAGCGCCAGTGAAT 0.363 20 51 --- --- --- --- PASS PGR 5241 broad.mit.edu 37 11 100933286 100933286 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:100933286C>A uc001pgh.2 - 4 2847 c.2104G>T c.(2104-2106)GGA>TGA p.G702* PGR_uc001pgg.2_Nonsense_Mutation_p.G83*|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 702 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TTGTCATGTCCTGCATAGATC 0.428 57 211 --- --- --- --- PASS PGR 5241 broad.mit.edu 37 11 100933287 100933287 + Silent SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:100933287T>A uc001pgh.2 - 4 2846 c.2103A>T c.(2101-2103)GCA>GCT p.A701A PGR_uc001pgg.2_Silent_p.A82A|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 701 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TGTCATGTCCTGCATAGATCA 0.428 58 209 --- --- --- --- PASS PGR 5241 broad.mit.edu 37 11 100999141 100999141 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:100999141C>A uc001pgh.2 - 1 1404 c.661G>T c.(661-663)GTT>TTT p.V221F PGR_uc001pgi.2_Missense_Mutation_p.V221F|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 221 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TCCTCCTCAACCTCCACCGCA 0.711 3 12 --- --- --- --- PASS MMP20 9313 broad.mit.edu 37 11 102477371 102477371 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:102477371G>T uc001phc.2 - 6 861 c.848C>A c.(847-849)CCC>CAC p.P283H NM_004771 NP_004762 O60882 MMP20_HUMAN matrix metalloproteinase 20 preproprotein 283 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding urinary_tract(1)|skin(1) 2 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) GGGGGCATGGGGCAGAGTGGG 0.522 8 47 --- --- --- --- PASS DDI1 414301 broad.mit.edu 37 11 103908673 103908673 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:103908673G>A uc001phr.2 + 1 1366 c.1123G>A c.(1123-1125)GGG>AGG p.G375R PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 375 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GATGGTAAGTGGGCAAGATGA 0.443 23 54 --- --- --- --- PASS CUL5 8065 broad.mit.edu 37 11 107966404 107966404 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:107966404A>T uc001pjv.2 + 16 2558 c.1891A>T c.(1891-1893)AGG>TGG p.R631W CUL5_uc001pju.2_RNA NM_003478 NP_003469 Q93034 CUL5_HUMAN Vasopressin-activated calcium-mobilizing 631 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding ovary(1) 1 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) TGCTGAACTTAGGAGGACTTT 0.363 31 131 --- --- --- --- PASS NPAT 4863 broad.mit.edu 37 11 108047022 108047022 + Silent SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:108047022T>A uc001pjz.3 - 12 1185 c.1083A>T c.(1081-1083)GCA>GCT p.A361A NPAT_uc001pka.2_Silent_p.A156A NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 361 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TAGTTTCATCTGCTAAGACTA 0.289 22 75 --- --- --- --- PASS ATM 472 broad.mit.edu 37 11 108168091 108168091 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:108168091G>T uc001pkb.1 + 33 5372 c.4987G>T c.(4987-4989)GGT>TGT p.G1663C ATM_uc009yxr.1_Missense_Mutation_p.G1663C|ATM_uc001pke.1_Missense_Mutation_p.G315C|ATM_uc001pkg.1_Missense_Mutation_p.G20C NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1663 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AAACCACACTGGTGAAAAAGA 0.199 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 15 52 --- --- --- --- PASS HTR3A 3359 broad.mit.edu 37 11 113857310 113857310 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:113857310T>C uc010rxb.1 + 7 1027 c.794T>C c.(793-795)ATG>ACG p.M265T HTR3A_uc010rxa.1_Missense_Mutation_p.M265T|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.M244T NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 259 Helical; Name=1; (Potential). digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CTCATGGTCATGGACATCGTG 0.582 26 90 --- --- --- --- PASS HTR3A 3359 broad.mit.edu 37 11 113857737 113857737 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:113857737C>T uc010rxb.1 + 7 1454 c.1221C>T c.(1219-1221)ACC>ACT p.T407T HTR3A_uc010rxa.1_Silent_p.T375T|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.T354T NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 369 Cytoplasmic (Potential). digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CCCCAGCCACCTCCCAAGCCA 0.577 9 44 --- --- --- --- PASS HTR3A 3359 broad.mit.edu 37 11 113860256 113860256 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:113860256G>T uc010rxb.1 + 8 1555 c.1322G>T c.(1321-1323)AGC>ATC p.S441I HTR3A_uc010rxa.1_Missense_Mutation_p.S409I|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.S388I NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 403 Cytoplasmic (Potential). digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) GACAGATGTAGCCCTCCCCCA 0.627 33 100 --- --- --- --- PASS ZBTB16 7704 broad.mit.edu 37 11 114121265 114121265 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:114121265G>T uc001pop.2 + 7 2274 c.2010G>T c.(2008-2010)CTG>CTT p.L670L ZBTB16_uc001poq.2_Silent_p.L670L NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 670 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) ACCTCTACCTGTGCTATGTGT 0.562 27 40 --- --- --- --- PASS APOC3 345 broad.mit.edu 37 11 116701610 116701610 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:116701610C>T uc001ppt.1 + 3 223 c.177C>T c.(175-177)GCC>GCT p.A59A NM_000040 NP_000031 P02656 APOC3_HUMAN apolipoprotein C-III precursor 59 QQA -> AQQ (in Ref. 8; AA sequence). Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle high-density lipoprotein particle receptor binding|lipase inhibitor 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;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CCCAGCAGGCCAGGTACACCC 0.642 6 34 --- --- --- --- PASS PAFAH1B2 5049 broad.mit.edu 37 11 117031909 117031909 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:117031909G>T uc001pqe.1 + 4 322 c.220G>T c.(220-222)GGG>TGG p.G74W PAFAH1B2_uc009yzk.1_Missense_Mutation_p.G74W|PAFAH1B2_uc009yzl.1_Missense_Mutation_p.G74W|PAFAH1B2_uc009yzm.2_RNA|PAFAH1B2_uc009yzn.2_RNA|PAFAH1B2_uc009yzj.1_Intron NM_002572 NP_002563 P68402 PA1B2_HUMAN platelet-activating factor acetylhydrolase, 74 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity kidney(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111) TTTTGGAATTGGGGGAGATAC 0.348 T IGH@ MLCLS 39 103 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117647604 117647604 + Missense_Mutation SNP C A A rs148829010 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:117647604C>A uc001prh.1 - 3 595 c.593G>T c.(592-594)CGT>CTT p.R198L DSCAML1_uc001pri.1_Missense_Mutation_p.R2L NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 138 Extracellular (Potential).|Ig-like C2-type 2. 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) CACGTTGCCACGCATTGACCT 0.522 11 37 --- --- --- --- PASS TMEM25 84866 broad.mit.edu 37 11 118403633 118403633 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:118403633C>G uc010rye.1 + 4 558 c.384C>G c.(382-384)TTC>TTG p.F128L TMEM25_uc010ryd.1_Missense_Mutation_p.F128L|TMEM25_uc001ptk.3_Missense_Mutation_p.F128L|TMEM25_uc001pth.2_Missense_Mutation_p.F128L|TMEM25_uc009zad.2_Missense_Mutation_p.F128L|TMEM25_uc001pti.2_Silent_p.V24V|TMEM25_uc010ryf.1_Intron|TMEM25_uc001ptl.2_Missense_Mutation_p.F128L|TMEM25_uc001ptm.2_Missense_Mutation_p.F128L|TMEM25_uc001ptn.2_Missense_Mutation_p.F128L NM_032780 NP_116169 Q86YD3 TMM25_HUMAN transmembrane protein 25 isoform 1 128 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane 0 all_hematologic(175;0.0349) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) TTGTACCAGTCAAGCCAGAGA 0.612 34 81 --- --- --- --- PASS C2CD2L 9854 broad.mit.edu 37 11 118983091 118983091 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:118983091G>A uc001pvo.2 + 8 1432 c.1073G>A c.(1072-1074)AGC>AAC p.S358N C2CD2L_uc001pvn.2_Missense_Mutation_p.S358N NM_014807 NP_055622 O14523 C2C2L_HUMAN transmembrane protein 24 358 integral to membrane 0 AGGAGCAGCAGCTGTGGAGAC 0.622 24 46 --- --- --- --- PASS CBL 867 broad.mit.edu 37 11 119148970 119148970 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:119148970G>T uc001pwe.2 + 8 1328 c.1190G>T c.(1189-1191)GGA>GTA p.G397V NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 397 Asp/Glu-rich (acidic).|RING-type. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_Q409del(13)|p.G397_I429del(1)|p.E366_K477del(1) haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) GAGCCCTGTGGACACCTCATG 0.383 CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 35 92 --- --- --- --- PASS ARHGEF12 23365 broad.mit.edu 37 11 120352171 120352171 + Nonsense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:120352171G>A uc001pxl.1 + 39 4447 c.4440G>A c.(4438-4440)TGG>TGA p.W1480* ARHGEF12_uc009zau.1_Nonsense_Mutation_p.W1377* NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1480 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) AGCAGCGCTGGGGAGCTATGG 0.507 T MLL AML 24 59 --- --- --- --- PASS SORL1 6653 broad.mit.edu 37 11 121430366 121430366 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:121430366G>A uc001pxx.2 + 21 3129 c.3049G>A c.(3049-3051)GGA>AGA p.G1017R NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1017 Extracellular (Potential). cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GAAGAACACTGGTAAGCCAGA 0.507 16 57 --- --- --- --- PASS OR10G8 219869 broad.mit.edu 37 11 123900904 123900904 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:123900904C>A uc001pzp.1 + 1 575 c.575C>A c.(574-576)TCA>TAA p.S192* NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 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;0.0521) GCAGACACCTCAGCCATAGAG 0.507 31 117 --- --- --- --- PASS OR8D2 283160 broad.mit.edu 37 11 124189528 124189528 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:124189528C>A uc010sah.1 - 1 566 c.566G>T c.(565-567)TGC>TTC p.C189F NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) GGTGCTGGAGCAAGACAGAGT 0.428 19 50 --- --- --- --- PASS ROBO4 54538 broad.mit.edu 37 11 124757010 124757010 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:124757010G>A uc001qbg.2 - 15 2438 c.2298C>T c.(2296-2298)TCC>TCT p.S766S ROBO4_uc010sas.1_Silent_p.S621S|ROBO4_uc001qbh.2_Silent_p.S656S|ROBO4_uc001qbi.2_Silent_p.S324S NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 766 Pro/Ser-rich. angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GGCCAGAGAGGGAAGAGGCCT 0.677 10 42 --- --- --- --- PASS ROBO4 54538 broad.mit.edu 37 11 124766560 124766560 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:124766560C>A uc001qbg.2 - 3 547 c.407G>T c.(406-408)CGG>CTG p.R136L ROBO4_uc010sas.1_5'UTR|ROBO4_uc001qbh.2_Missense_Mutation_p.R26L|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 136 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GAAATCCTCCCGGAGGACTGT 0.622 10 19 --- --- --- --- PASS ST14 6768 broad.mit.edu 37 11 130058447 130058447 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:130058447G>T uc001qfw.2 + 3 457 c.264G>T c.(262-264)AAG>AAT p.K88N ST14_uc010sca.1_5'Flank NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 88 Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GTGTCCAGAAGGTCTTCAATG 0.557 38 107 --- --- --- --- PASS OPCML 4978 broad.mit.edu 37 11 132527091 132527091 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr11:132527091C>G uc001qgs.2 - 2 341 c.291G>C c.(289-291)CAG>CAC p.Q97H OPCML_uc001qgu.2_Missense_Mutation_p.Q90H|OPCML_uc010sck.1_Missense_Mutation_p.Q97H|OPCML_uc001qgt.2_Missense_Mutation_p.Q97H|OPCML_uc010scl.1_Missense_Mutation_p.Q56H NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 97 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TGATGCTGTACTGGGTTGGTG 0.527 32 96 --- --- --- --- PASS CACNA2D4 93589 broad.mit.edu 37 12 1995152 1995152 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:1995152C>A uc001qjp.2 - 9 1278 c.1047G>T c.(1045-1047)CAG>CAT p.Q349H CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.Q265H NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 349 VWFA.|Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CTCGGTCCGCCTGGACGAGGA 0.537 25 26 --- --- --- --- PASS KCNA5 3741 broad.mit.edu 37 12 5154071 5154071 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:5154071C>G uc001qni.2 + 1 987 c.758C>G c.(757-759)GCC>GGC p.A253G NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 253 Helical; Name=Segment S1; (Potential). Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 CGGGCCATCGCCATCGTCTCG 0.592 123 192 --- --- --- --- PASS NTF3 4908 broad.mit.edu 37 12 5603961 5603961 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:5603961G>C uc001qnl.3 + 1 664 c.581G>C c.(580-582)CGA>CCA p.R194P NTF3_uc001qnk.3_Missense_Mutation_p.R207P NM_002527 NP_002518 P20783 NTF3_HUMAN neurotrophin 3 isoform 2 preproprotein 194 signal transduction extracellular region growth factor activity|neurotrophin receptor binding pancreas(1) 1 TATGAAACGCGATGTAAGGAA 0.507 64 86 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6125732 6125732 + Nonsense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:6125732A>T uc001qnn.1 - 30 5511 c.5261T>A c.(5260-5262)TTG>TAG p.L1754* VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1754 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) AAGGCTCAGCAAATGGGCTTT 0.473 40 72 --- --- --- --- PASS TNFRSF1A 7132 broad.mit.edu 37 12 6438776 6438776 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:6438776G>A uc001qnu.2 - 10 1351 c.1070C>T c.(1069-1071)GCG>GTG p.A357V TNFRSF1A_uc001qnt.2_Missense_Mutation_p.A249V|TNFRSF1A_uc010sey.1_Missense_Mutation_p.A125V|TNFRSF1A_uc010sez.1_Missense_Mutation_p.A249V|TNFRSF1A_uc009zek.2_Missense_Mutation_p.A314V NM_001065 NP_001056 P19438 TNR1A_HUMAN tumor necrosis factor receptor 1 precursor 357 Death.|Cytoplasmic (Potential). apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity lung(2)|skin(1) 3 GTACAGCGTCGCGGGGTCATC 0.726 5 33 --- --- --- --- PASS GAPDH 2597 broad.mit.edu 37 12 6645907 6645907 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:6645907G>A uc001qop.1 + 4 289 c.187G>A c.(187-189)GAG>AAG p.E63K GAPDH_uc009zep.1_Missense_Mutation_p.E21K|GAPDH_uc001qoq.1_5'UTR|GAPDH_uc001qor.1_5'UTR|GAPDH_uc001qos.1_Missense_Mutation_p.E63K|GAPDH_uc001qot.1_Missense_Mutation_p.E63K|GAPDH_uc001qou.1_5'UTR|GAPDH_uc001qov.1_Missense_Mutation_p.E21K|GAPDH_uc001qow.1_Silent_p.L14L|GAPDH_uc001qox.1_5'Flank NM_002046 NP_002037 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 63 Interaction with WARS. gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding 0 NADH(DB00157) CGTCAAGGCTGAGAACGGGAA 0.498 97 138 --- --- --- --- PASS CLEC6A 93978 broad.mit.edu 37 12 8629926 8629926 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:8629926C>T uc001qum.1 + 6 613 c.496C>T c.(496-498)CTA>TTA p.L166L NM_001007033 NP_001007034 Q6EIG7 CLC6A_HUMAN dectin-2 166 Extracellular (Potential).|C-type lectin. defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1) 1 Lung SC(5;0.184) ATTTTGGCACCTAGGTGAGCC 0.403 66 219 --- --- --- --- PASS PZP 5858 broad.mit.edu 37 12 9356370 9356370 + Silent SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:9356370G>C uc001qvl.2 - 2 290 c.261C>G c.(259-261)TCC>TCG p.S87S PZP_uc009zgl.2_5'UTR NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 TCACAGTGAAGGAGACACAGT 0.512 43 123 --- --- --- --- PASS CLEC2D 29121 broad.mit.edu 37 12 9845509 9845509 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:9845509G>T uc001qwg.1 + 4 465 c.443G>T c.(442-444)GGT>GTT p.G148V CLEC2D_uc001qwf.1_Missense_Mutation_p.G148V|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_Intron|CLEC2D_uc009zgu.1_Intron NM_013269 NP_037401 Q9UHP7 CLC2D_HUMAN osteoclast inhibitory lectin isoform 1 148 Extracellular (Potential).|C-type lectin. cell surface receptor linked signaling pathway cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction sugar binding|transmembrane receptor activity 0 TGGATAAATGGTACTGAATGG 0.363 26 71 --- --- --- --- PASS TAS2R10 50839 broad.mit.edu 37 12 10978682 10978682 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:10978682T>C uc001qyy.1 - 1 187 c.187A>G c.(187-189)ACA>GCA p.T63A NM_023921 NP_076410 Q9NYW0 T2R10_HUMAN taste receptor, type 2, member 10 63 Helical; Name=2; (Potential). sensory perception of taste integral to membrane taste receptor activity 0 AATCCATCTGTAATTATTATC 0.313 61 73 --- --- --- --- PASS C12orf36 283422 broad.mit.edu 37 12 13526185 13526185 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:13526185C>A uc001rbs.1 - 3 588 c.370G>T c.(370-372)GAA>TAA p.E124* NM_182558 NP_872364 hypothetical protein LOC283422 0 BRCA - Breast invasive adenocarcinoma(232;0.198) CTCACATCTTCCTCAATTTTC 0.408 81 232 --- --- --- --- PASS GUCY2C 2984 broad.mit.edu 37 12 14840956 14840956 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:14840956C>A uc001rcd.2 - 2 396 c.259G>T c.(259-261)GGT>TGT p.G87C GUCY2C_uc009zhz.2_Missense_Mutation_p.G87C NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 87 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 TGAATCAGACCATCCGAATAC 0.433 65 126 --- --- --- --- PASS WBP11 51729 broad.mit.edu 37 12 14949838 14949838 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:14949838T>A uc001rci.2 - 5 451 c.290A>T c.(289-291)GAA>GTA p.E97V NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 97 Potential. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding ovary(1)|lung(1) 2 ATTCTCTTTTTCATAGAGTCG 0.368 77 166 --- --- --- --- PASS EPS8 2059 broad.mit.edu 37 12 15823797 15823797 + Missense_Mutation SNP C A A rs77383735 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:15823797C>A uc009zif.2 - 4 291 c.197G>T c.(196-198)CGT>CTT p.R66L EPS8_uc001rdb.2_Missense_Mutation_p.R66L|EPS8_uc009zig.2_5'UTR NM_004447 NP_004438 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway 66 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) TACTTCAACACGGTATTGAGA 0.353 82 128 --- --- --- --- PASS MGST1 4257 broad.mit.edu 37 12 16516939 16516939 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:16516939G>T uc001rdf.2 + 4 497 c.432G>T c.(430-432)ATG>ATT p.M144I MGST1_uc001rdg.2_Missense_Mutation_p.M144I|MGST1_uc009zih.1_Intron|MGST1_uc001rdh.2_Missense_Mutation_p.M144I|MGST1_uc001rdi.2_Missense_Mutation_p.M144I NM_145792 NP_665735 P10620 MGST1_HUMAN microsomal glutathione S-transferase 1 144 Helical; (By similarity). protein homotrimerization|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane glutathione transferase activity 0 Hepatocellular(102;0.121) Glutathione(DB00143) CTCTTTCCATGGCTTACAGGT 0.388 116 141 --- --- --- --- PASS CAPZA3 93661 broad.mit.edu 37 12 18892099 18892099 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:18892099A>G uc001rdy.2 + 1 1055 c.897A>G c.(895-897)ATA>ATG p.I299M PLCZ1_uc001rdv.3_5'Flank|PLCZ1_uc001rdw.3_5'Flank|PLCZ1_uc010sid.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN capping protein alpha 3 299 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) ACTGGATAATATAAAGAATTG 0.353 241 141 --- --- --- --- PASS PDE3A 5139 broad.mit.edu 37 12 20522893 20522893 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:20522893C>A uc001reh.1 + 1 697 c.675C>A c.(673-675)TCC>TCA p.S225S NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 225 Helical; (Potential). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GGACCGTGTCCCTCATTTCCT 0.622 41 150 --- --- --- --- PASS SLCO1B1 10599 broad.mit.edu 37 12 21331906 21331906 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:21331906G>T uc001req.3 + 7 783 c.679G>T c.(679-681)GGA>TGA p.G227* NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 227 Helical; Name=5; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) CTTTACCCTGGGATCTCTGTT 0.353 257 187 --- --- --- --- PASS RECQL 5965 broad.mit.edu 37 12 21643203 21643203 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:21643203C>G uc001rex.2 - 5 672 c.324G>C c.(322-324)GAG>GAC p.E108D RECQL_uc001rey.2_Missense_Mutation_p.E108D NM_032941 NP_116559 P46063 RECQ1_HUMAN RecQ protein-like 108 Helicase ATP-binding. DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding ovary(1)|lung(1) 2 CAAGAAATACCTCCTTTCCAG 0.353 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 72 295 --- --- --- --- PASS ST8SIA1 6489 broad.mit.edu 37 12 22487129 22487129 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:22487129C>A uc001rfo.3 - 1 520 c.38G>T c.(37-39)AGA>ATA p.R13I ST8SIA1_uc009zix.2_5'UTR|uc001rfp.1_Intron NM_003034 NP_003025 Q92185 SIA8A_HUMAN alpha-2,8-sialyltransferase 1 13 Cytoplasmic (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(3) 3 CATGGCCCCTCTGGACGTTTG 0.697 32 110 --- --- --- --- PASS ITPR2 3709 broad.mit.edu 37 12 26750058 26750058 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:26750058C>A uc001rhg.2 - 31 4429 c.4012G>T c.(4012-4014)GGG>TGG p.G1338W NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1338 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) TCTTCACCCCCATTTATCAAC 0.408 266 214 --- --- --- --- PASS ITPR2 3709 broad.mit.edu 37 12 26807026 26807026 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:26807026C>A uc001rhg.2 - 21 3040 c.2623G>T c.(2623-2625)GGA>TGA p.G875* NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 875 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) CTATAAAATCCAAAGTATATA 0.373 34 154 --- --- --- --- PASS PPFIBP1 8496 broad.mit.edu 37 12 27829480 27829480 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:27829480G>T uc001ric.1 + 18 1958 c.1581G>T c.(1579-1581)CGG>CGT p.R527R PPFIBP1_uc010sjr.1_Silent_p.R358R|PPFIBP1_uc001rib.1_Silent_p.R510R|PPFIBP1_uc001ria.2_Silent_p.R496R|PPFIBP1_uc001rid.1_Silent_p.R374R|PPFIBP1_uc001rif.1_5'Flank NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 527 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) CCTTTGGCCGGGGCTTTTTTA 0.502 196 123 --- --- --- --- PASS FAR2 55711 broad.mit.edu 37 12 29423493 29423493 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:29423493G>A uc001ris.3 + 2 258 c.111G>A c.(109-111)CTG>CTA p.L37L FAR2_uc001rit.2_Silent_p.L37L|FAR2_uc009zjm.2_Intron NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 37 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 0 GCCCAGACCTGAAAGTCATTT 0.527 103 54 --- --- --- --- PASS OVCH1 341350 broad.mit.edu 37 12 29628067 29628067 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:29628067C>A uc001rix.1 - 14 1527 c.1527G>T c.(1525-1527)ACG>ACT p.T509T NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 509 CUB 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) AGTATATCACCGTCATGTTAC 0.308 11 29 --- --- --- --- PASS OVCH1 341350 broad.mit.edu 37 12 29648348 29648348 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:29648348G>C uc001rix.1 - 4 324 c.324C>G c.(322-324)AGC>AGG p.S108R NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 108 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TCTGAAAGAGGCTGTACTCCC 0.388 49 195 --- --- --- --- PASS DDX11 1663 broad.mit.edu 37 12 31236942 31236942 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:31236942G>A uc001rjt.1 + 3 591 c.340G>A c.(340-342)GTT>ATT p.V114I DDX11_uc010sjw.1_Missense_Mutation_p.V114I|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.V114I|DDX11_uc001rjs.1_Missense_Mutation_p.V114I|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.V114I|DDX11_uc001rjw.1_Missense_Mutation_p.V88I NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 114 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) ACCGGCCTGGGTTACTCAGTT 0.562 Multiple Myeloma(12;0.14) 89 284 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 12 31354068 31354068 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:31354068G>C uc010sjy.1 - 2 134 c.134C>G c.(133-135)TCC>TGC p.S45C RecName: Full=Ovostatin homolog 1; Flags: Precursor; ATAGTTGAGGGAGACCGTCAA 0.388 8 7 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40740726 40740726 + Splice_Site SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:40740726G>T uc001rmg.3 + 42 6401 c.6280_splice c.e42+1 p.D2094_splice LRRK2_uc009zjw.2_Splice_Site_p.D932_splice|LRRK2_uc001rmi.2_Splice_Site_p.D927_splice NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AAATTACCTGGTAAGTTCTGT 0.294 27 39 --- --- --- --- PASS CNTN1 1272 broad.mit.edu 37 12 41327336 41327336 + Silent SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:41327336G>C uc001rmm.1 + 8 890 c.777G>C c.(775-777)GTG>GTC p.V259V CNTN1_uc009zjy.1_Silent_p.V259V|CNTN1_uc001rmn.1_Silent_p.V248V|CNTN1_uc001rmo.2_Silent_p.V259V NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 259 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) GCCAAAATGTGACCTTAGAAT 0.294 81 94 --- --- --- --- PASS SLC38A4 55089 broad.mit.edu 37 12 47178371 47178371 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:47178371C>A uc001rpi.2 - 7 846 c.447G>T c.(445-447)CCG>CCT p.P149P SLC38A4_uc001rpj.2_Silent_p.P149P|SLC38A4_uc009zkl.2_Silent_p.P149P NM_018018 NP_060488 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 149 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung SC(27;0.192)|Renal(347;0.236) CAATTTTTCCCGGCCATCCAA 0.333 48 52 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49431527 49431527 + Silent SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:49431527T>A uc001rta.3 - 34 9612 c.9612A>T c.(9610-9612)CCA>CCT p.P3204P NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3204 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 AGGATCCTCCTGGGCCACTCA 0.602 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 6 10 --- --- --- --- PASS PRPF40B 25766 broad.mit.edu 37 12 50026907 50026907 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:50026907G>T uc001rur.1 + 6 457 c.393G>T c.(391-393)GAG>GAT p.E131D PRPF40B_uc001rup.1_Missense_Mutation_p.E153D|PRPF40B_uc001ruq.1_Missense_Mutation_p.E125D|PRPF40B_uc001rus.1_Missense_Mutation_p.E74D NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 131 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 CCAAGGCAGAGGTCCTGAGCT 0.557 8 5 --- --- --- --- PASS KRT75 9119 broad.mit.edu 37 12 52828050 52828050 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:52828050G>T uc001saj.2 - 1 61 c.39C>A c.(37-39)AGC>AGA p.S13R NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 13 Head. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) AGCCCCTGCGGCTGCCAGACT 0.672 12 4 --- --- --- --- PASS OR6C65 403282 broad.mit.edu 37 12 55795096 55795096 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:55795096G>C uc010spl.1 + 1 784 c.784G>C c.(784-786)GCA>CCA p.A262P NM_001005518 NP_001005518 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAAAACATCTGCAAAAGAAGG 0.388 75 61 --- --- --- --- PASS OR10P1 121130 broad.mit.edu 37 12 56030896 56030896 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:56030896C>A uc010spq.1 + 1 221 c.221C>A c.(220-222)ACC>AAC p.T74N NM_206899 NP_996782 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 CTCTTCTACACCACTGACATC 0.592 75 46 --- --- --- --- PASS RDH16 8608 broad.mit.edu 37 12 57346753 57346753 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:57346753C>A uc001smi.3 - 3 766 c.594G>T c.(592-594)GGG>GGT p.G198G RDH16_uc009zpa.2_Silent_p.G53G NM_003708 NP_003699 O75452 RDH16_HUMAN retinol dehydrogenase 16 198 Cytoplasmic (Potential). lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity 0 CCACCTTCACCCCAAAGTAGG 0.458 65 72 --- --- --- --- PASS AGAP2 116986 broad.mit.edu 37 12 58126641 58126641 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:58126641C>A uc001spq.2 - 6 1671 c.1671G>T c.(1669-1671)CGG>CGT p.R557R AGAP2_uc001spp.2_Silent_p.R557R|AGAP2_uc001spr.2_Silent_p.R221R NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-L 557 G domain. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 CCTGGAAGACCCGATCCACAT 0.567 223 183 --- --- --- --- PASS LRIG3 121227 broad.mit.edu 37 12 59268065 59268065 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:59268065T>A uc001sqr.2 - 18 3133 c.2887A>T c.(2887-2889)AGT>TGT p.S963C LRIG3_uc009zqh.2_Missense_Mutation_p.S903C|LRIG3_uc010ssh.1_RNA NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like 963 integral to membrane skin(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;1.17e-18) TTTATGTAACTGGGCTCATAG 0.428 94 68 --- --- --- --- PASS FRS2 10818 broad.mit.edu 37 12 69962853 69962853 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:69962853G>T uc001suy.2 + 6 553 c.43G>T c.(43-45)GAT>TAT p.D15Y FRS2_uc001suz.2_Missense_Mutation_p.D15Y|FRS2_uc009zrj.2_Missense_Mutation_p.D15Y|FRS2_uc009zrk.2_Missense_Mutation_p.D15Y NM_006654 NP_006645 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 15 IRS-type PTB. activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity prostate(1)|kidney(1) 2 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CACTGTCCCAGATAACCATCG 0.353 50 40 --- --- --- --- PASS TPH2 121278 broad.mit.edu 37 12 72372758 72372758 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:72372758G>C uc009zrw.1 + 7 973 c.832G>C c.(832-834)GTG>CTG p.V278L TPH2_uc001swy.2_Missense_Mutation_p.V188L NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 278 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) GGTGAGGCCGGTGGCTGGATA 0.527 76 61 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78400815 78400815 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:78400815C>G uc001syp.2 + 8 1670 c.1497C>G c.(1495-1497)ACC>ACG p.T499T NAV3_uc001syo.2_Silent_p.T499T NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 499 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CAAAAAAGACCTCCAAAATTG 0.418 HNSCC(70;0.22) 49 50 --- --- --- --- PASS ALX1 8092 broad.mit.edu 37 12 85677442 85677442 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:85677442G>T uc001tae.3 + 2 323 c.319G>T c.(319-321)GTG>TTG p.V107L NM_006982 NP_008913 Q15699 ALX1_HUMAN cartilage paired-class homeoprotein 1 107 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(134;0.134) AATGTCTCCCGTGAAAGGGAT 0.483 37 35 --- --- --- --- PASS ALX1 8092 broad.mit.edu 37 12 85677506 85677506 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:85677506C>G uc001tae.3 + 2 387 c.383C>G c.(382-384)TCC>TGC p.S128C NM_006982 NP_008913 Q15699 ALX1_HUMAN cartilage paired-class homeoprotein 1 128 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(134;0.134) AGCAATGTATCCAGCAGTAAG 0.478 38 42 --- --- --- --- PASS CLLU1OS 574016 broad.mit.edu 37 12 92814818 92814818 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:92814818C>T uc001tcb.1 - 3 276 c.274G>A c.(274-276)GAT>AAT p.D92N CLLU1_uc001tcc.2_5'Flank|CLLU1_uc001tcd.2_5'Flank|CLLU1_uc001tce.1_5'Flank|CLLU1_uc001tcf.2_5'Flank NM_001025232 NP_001020403 Q5K130 CLU1O_HUMAN chronic lymphocytic leukemia up-regulated 1 92 0 TTCTTCCCATCATCATTGCCC 0.438 242 228 --- --- --- --- PASS ANKS1B 56899 broad.mit.edu 37 12 99225845 99225845 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:99225845C>T uc001tge.1 - 18 3265 c.2848G>A c.(2848-2850)GAT>AAT p.D950N ANKS1B_uc001tgf.1_Missense_Mutation_p.D526N|ANKS1B_uc001tgk.2_Missense_Mutation_p.D247N|ANKS1B_uc010svd.1_5'UTR|ANKS1B_uc001tgd.1_Missense_Mutation_p.D176N|ANKS1B_uc009ztq.2_5'UTR|ANKS1B_uc010sve.1_5'UTR|ANKS1B_uc001tgh.3_5'UTR|ANKS1B_uc001tgi.2_Missense_Mutation_p.D176N|ANKS1B_uc009ztr.2_Missense_Mutation_p.D176N|ANKS1B_uc001tgj.2_Missense_Mutation_p.D176N|ANKS1B_uc009ztp.2_5'UTR|ANKS1B_uc010svf.1_5'UTR|ANKS1B_uc001tgg.3_Intron|ANKS1B_uc010svg.1_Missense_Mutation_p.D145N|ANKS1B_uc009zts.1_Missense_Mutation_p.D176N|ANKS1B_uc001tgm.1_Missense_Mutation_p.D176N NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 950 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TGTGGGGGATCGTCGTGCAGC 0.418 8 2 --- --- --- --- PASS MYBPC1 4604 broad.mit.edu 37 12 102046932 102046932 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:102046932A>T uc001tii.2 + 16 1700 c.1598A>T c.(1597-1599)AAC>ATC p.N533I MYBPC1_uc001tig.2_Missense_Mutation_p.N558I|MYBPC1_uc010svq.1_Missense_Mutation_p.N520I|MYBPC1_uc001tih.2_Missense_Mutation_p.N558I|MYBPC1_uc001tij.2_Missense_Mutation_p.N533I|MYBPC1_uc010svr.1_Missense_Mutation_p.N533I|MYBPC1_uc010svs.1_Missense_Mutation_p.N533I|MYBPC1_uc010svt.1_Missense_Mutation_p.N521I|MYBPC1_uc010svu.1_Missense_Mutation_p.N514I|MYBPC1_uc001tik.2_Missense_Mutation_p.N507I NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 533 Ig-like C2-type 5. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 GATGCTGACAACACAGTGACA 0.443 41 40 --- --- --- --- PASS PAH 5053 broad.mit.edu 37 12 103310894 103310894 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:103310894G>T uc001tjq.1 - 2 487 c.15C>A c.(13-15)GTC>GTA p.V5V PAH_uc010swc.1_Silent_p.V5V NM_000277 NP_000268 P00439 PH4H_HUMAN phenylalanine hydroxylase 5 catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity ovary(4) 4 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) GGTTTTCCAGGACCGCAGTGG 0.572 36 34 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104089513 104089513 + Splice_Site SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:104089513A>T uc001tjw.2 + 33 3661 c.3475_splice c.e33-2 p.Q1159_splice NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 TTTCCATCGCAGCAATATAAT 0.483 53 34 --- --- --- --- PASS APPL2 55198 broad.mit.edu 37 12 105583577 105583577 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:105583577C>G uc001tlf.1 - 16 1650 c.1432G>C c.(1432-1434)GAG>CAG p.E478Q APPL2_uc010swt.1_Missense_Mutation_p.E435Q|APPL2_uc001tlg.1_Missense_Mutation_p.E232Q|APPL2_uc010swu.1_Missense_Mutation_p.E484Q|APPL2_uc009zuq.2_Missense_Mutation_p.E435Q NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 478 cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 GATTCATCCTCAGTTTCACCA 0.433 37 24 --- --- --- --- PASS NUAK1 9891 broad.mit.edu 37 12 106477667 106477667 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:106477667A>T uc001tlj.1 - 4 1934 c.554T>A c.(553-555)CTG>CAG p.L185Q NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 185 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 GTCATCGAGCAGTATATTTTC 0.502 38 38 --- --- --- --- PASS ASCL4 121549 broad.mit.edu 37 12 108169386 108169386 + Nonsense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:108169386C>T uc001tmr.2 + 1 1225 c.394C>T c.(394-396)CAG>TAG p.Q132* NM_203436 NP_982260 Q6XD76 ASCL4_HUMAN achaete-scute complex-like 4 131 regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent nucleus DNA binding central_nervous_system(1) 1 GCTGGAGCGCCAGGCCTGGGG 0.711 7 3 --- --- --- --- PASS ANKRD13A 88455 broad.mit.edu 37 12 110450962 110450962 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:110450962G>T uc001tpx.2 + 3 521 c.262G>T c.(262-264)GAG>TAG p.E88* ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc009zvm.1_Nonsense_Mutation_p.E88*|ANKRD13A_uc010sxw.1_Nonsense_Mutation_p.E88* NM_033121 NP_149112 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13 88 ANK 2. 0 TGGCGATCCTGAGATGGTGTA 0.433 53 39 --- --- --- --- PASS HVCN1 84329 broad.mit.edu 37 12 111099059 111099059 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:111099059A>T uc001trs.1 - 4 381 c.216T>A c.(214-216)CCT>CCA p.P72P HVCN1_uc001trq.1_Silent_p.P72P|HVCN1_uc001trt.1_Silent_p.P72P|HVCN1_uc010syd.1_Silent_p.P52P NM_032369 NP_115745 Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 72 Cytoplasmic (Potential). response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity skin(1) 1 GGGCAACGTCAGGGGCTGCAG 0.522 31 20 --- --- --- --- PASS MYL2 4633 broad.mit.edu 37 12 111350900 111350900 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:111350900C>G uc001try.3 - 6 473 c.402G>C c.(400-402)GAG>GAC p.E134D MYL2_uc001trx.3_Missense_Mutation_p.E115D NM_000432 NP_000423 P10916 MLRV_HUMAN slow cardiac myosin regulatory light chain 2 134 EF-hand 3. cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle ovary(1) 1 ACCCCATTACCTCCTCCTTGG 0.587 59 67 --- --- --- --- PASS CUX2 23316 broad.mit.edu 37 12 111744741 111744741 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:111744741C>G uc001tsa.1 + 11 1028 c.875C>G c.(874-876)ACT>AGT p.T292S NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 292 Potential. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 GTGAACTTCACTCTGTGCTCG 0.642 60 49 --- --- --- --- PASS C12orf51 283450 broad.mit.edu 37 12 112743916 112743916 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:112743916C>A uc009zwc.2 - 1 123 c.105G>T c.(103-105)GAG>GAT p.E35D NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 TCGGTGTTTTCTCATTCAGGC 0.453 26 29 --- --- --- --- PASS GCN1L1 10985 broad.mit.edu 37 12 120586073 120586073 + Missense_Mutation SNP T G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:120586073T>G uc001txo.2 - 37 4637 c.4624A>C c.(4624-4626)AAG>CAG p.K1542Q NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1542 HEAT 9. regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCCGTAAGCTTGGGCACAATG 0.572 45 68 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124311314 124311314 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:124311314C>T uc001uft.3 + 24 3931 c.3906C>T c.(3904-3906)CTC>CTT p.L1302L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1302 Stem (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) AAGGTTTTCTCAGGGCTCTCA 0.458 66 60 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124352552 124352552 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:124352552G>T uc001uft.3 + 42 7076 c.7051G>T c.(7051-7053)GGA>TGA p.G2351* NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2351 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) CTGCTCTCTGGGAGCCTCCCT 0.483 30 18 --- --- --- --- PASS TMEM132B 114795 broad.mit.edu 37 12 125900111 125900111 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:125900111G>T uc001uhe.1 + 3 987 c.979G>T c.(979-981)GTG>TTG p.V327L NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 327 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GATAACGGCAGTGAGAGTCAG 0.478 77 74 --- --- --- --- PASS TPTE2 93492 broad.mit.edu 37 13 20025324 20025324 + Silent SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:20025324A>G uc001umd.2 - 12 994 c.783T>C c.(781-783)TAT>TAC p.Y261Y TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Silent_p.Y150Y|TPTE2_uc001ume.2_Silent_p.Y184Y|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 261 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TGTAGACTCGATAGTGGTTTC 0.338 55 49 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23915357 23915357 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:23915357C>G uc001uon.2 - 10 3247 c.2658G>C c.(2656-2658)CAG>CAC p.Q886H SACS_uc001uoo.2_Missense_Mutation_p.Q739H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 886 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) TACACAATTTCTGCAATGGCA 0.353 48 117 --- --- --- --- PASS ATP12A 479 broad.mit.edu 37 13 25275055 25275055 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:25275055A>T uc001upp.2 + 13 2063 c.1876A>T c.(1876-1878)ATC>TTC p.I626F ATP12A_uc010aaa.2_Missense_Mutation_p.I632F NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 626 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GAGTGCAGGGATCAAGGTGGG 0.468 56 47 --- --- --- --- PASS ATP8A2 51761 broad.mit.edu 37 13 26153025 26153025 + Missense_Mutation SNP T G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:26153025T>G uc001uqk.2 + 21 1997 c.1855T>G c.(1855-1857)TTT>GTT p.F619V ATP8A2_uc010tdi.1_Missense_Mutation_p.F579V|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.F129V NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 579 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TCTGGAATACTTTGCCACGGA 0.388 16 46 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29608120 29608120 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:29608120C>A uc001usl.3 + 2 2392 c.2334C>A c.(2332-2334)CCC>CCA p.P778P NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 768 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 TCCTTAAGCCCCAGCTAGGAT 0.507 22 21 --- --- --- --- PASS RXFP2 122042 broad.mit.edu 37 13 32367141 32367141 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:32367141G>T uc001utt.2 + 16 1773 c.1702G>T c.(1702-1704)GGG>TGG p.G568W RXFP2_uc010aba.2_Missense_Mutation_p.G527W NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 568 Extracellular (Potential). integral to membrane|plasma membrane 0 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) AAACTTTTATGGGAAAAATGG 0.338 43 41 --- --- --- --- PASS KIAA0564 23078 broad.mit.edu 37 13 42161739 42161739 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:42161739C>A uc001uyj.2 - 42 5250 c.5180G>T c.(5179-5181)CGT>CTT p.R1727L NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 1727 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) CCTGTTGAAACGGTACATGCT 0.517 49 40 --- --- --- --- PASS ZC3H13 23091 broad.mit.edu 37 13 46563198 46563198 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:46563198T>C uc010tfw.1 - 8 985 c.979A>G c.(979-981)ATA>GTA p.I327V ZC3H13_uc001vas.1_Missense_Mutation_p.I327V|ZC3H13_uc001vat.1_Missense_Mutation_p.I327V NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 327 Ser-rich. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) CTAGAAGATATAGGAGAATGA 0.388 29 36 --- --- --- --- PASS CCDC70 83446 broad.mit.edu 37 13 52439998 52439998 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:52439998G>T uc001vfu.3 + 2 780 c.484G>T c.(484-486)GCC>TCC p.A162S uc010tgr.1_RNA NM_031290 NP_112580 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 precursor 162 Potential. extracellular region|plasma membrane 0 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) GGAAGAAAAGGCCCTGTGGGT 0.547 95 78 --- --- --- --- PASS CCDC70 83446 broad.mit.edu 37 13 52439999 52439999 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:52439999C>A uc001vfu.3 + 2 781 c.485C>A c.(484-486)GCC>GAC p.A162D uc010tgr.1_RNA NM_031290 NP_112580 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 precursor 162 Potential. extracellular region|plasma membrane 0 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) GAAGAAAAGGCCCTGTGGGTA 0.547 94 77 --- --- --- --- PASS THSD1 55901 broad.mit.edu 37 13 52952431 52952431 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:52952431G>T uc001vgo.2 - 5 2219 c.1674C>A c.(1672-1674)CCC>CCA p.P558P THSD1_uc001vgp.2_Silent_p.P505P|THSD1_uc010tgz.1_Silent_p.P179P|THSD1_uc010aea.2_Silent_p.P19P NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 558 Cytoplasmic (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) TGTCTGTCAGGGGACTCTGAG 0.517 102 97 --- --- --- --- PASS TDRD3 81550 broad.mit.edu 37 13 61102614 61102614 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:61102614A>G uc001via.2 + 11 1764 c.976A>G c.(976-978)AGG>GGG p.R326G TDRD3_uc010aef.2_Missense_Mutation_p.R151G|TDRD3_uc001vhz.3_Missense_Mutation_p.R326G|TDRD3_uc010aeg.2_Missense_Mutation_p.R419G|TDRD3_uc001vib.3_Missense_Mutation_p.R325G NM_030794 NP_110421 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 isoform 2 326 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity upper_aerodigestive_tract(1)|skin(1) 2 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) AAATGATACCAGGCAGCCAAG 0.403 82 59 --- --- --- --- PASS PCDH9 5101 broad.mit.edu 37 13 67205431 67205431 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:67205431A>G uc001vik.2 - 4 3943 c.3251T>C c.(3250-3252)CTT>CCT p.L1084P PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Missense_Mutation_p.L1050P|PCDH9_uc010thl.1_Intron NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 1084 Cytoplasmic (Potential). 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) AACCAGAGGAAGAGGGTGTGA 0.552 61 57 --- --- --- --- PASS LMO7 4008 broad.mit.edu 37 13 76432084 76432084 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:76432084A>T uc001vjv.2 + 27 4853 c.4093A>T c.(4093-4095)AGC>TGC p.S1365C LMO7_uc010thv.1_3'UTR|LMO7_uc010thw.1_3'UTR|LMO7_uc001vjx.1_RNA NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 Error:Variant_position_missing_in_Q8WWI1_after_alignment cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) ATGTGATGTAAGCCTCCATAC 0.403 39 56 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77835401 77835401 + Nonsense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:77835401G>C uc001vkf.2 - 13 1734 c.1643C>G c.(1642-1644)TCA>TGA p.S548* MYCBP2_uc010aev.2_5'UTR NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 548 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) GTGTCCAACTGAGAAGTGTAC 0.428 76 72 --- --- --- --- PASS SLITRK6 84189 broad.mit.edu 37 13 86369386 86369386 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:86369386C>A uc001vll.1 - 2 1717 c.1258G>T c.(1258-1260)GGT>TGT p.G420C SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 420 Extracellular (Potential).|LRR 8. integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) AGGTGGTTACCATTTAGATAG 0.353 48 36 --- --- --- --- PASS SLITRK5 26050 broad.mit.edu 37 13 88329802 88329802 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:88329802G>A uc001vln.2 + 2 2378 c.2159G>A c.(2158-2160)GGC>GAC p.G720D SLITRK5_uc010tic.1_Missense_Mutation_p.G479D NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 720 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) TACGGCGGCGGCGGCGGCACG 0.652 24 23 --- --- --- --- PASS STK24 8428 broad.mit.edu 37 13 99116047 99116047 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:99116047C>G uc001vnm.1 - 7 1098 c.863G>C c.(862-864)CGC>CCC p.R288P STK24_uc001vnn.1_Missense_Mutation_p.R276P|STK24_uc010tim.1_Missense_Mutation_p.R257P NM_003576 NP_003567 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 isoform a 288 cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CTTTGCATTGCGTAGTATAAA 0.468 30 46 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101735197 101735197 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:101735197G>T uc001vox.1 - 33 3917 c.3728C>A c.(3727-3729)ACA>AAA p.T1243K NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1243 Helical; Name=S2 of repeat IV; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AACTGACATTGTTGCCAAAGG 0.507 54 53 --- --- --- --- PASS COL4A1 1282 broad.mit.edu 37 13 110815855 110815855 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr13:110815855C>A uc001vqw.3 - 47 4326 c.4204G>T c.(4204-4206)GGT>TGT p.G1402C COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 1402 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCAGGGGCACCGTCAAACCCA 0.502 19 29 --- --- --- --- PASS OR11H6 122748 broad.mit.edu 37 14 20692744 20692744 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:20692744C>A uc010tlc.1 + 1 876 c.876C>A c.(874-876)ATC>ATA p.I292I NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 292 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) AGAAGATCATCACTCTGGTAT 0.443 46 176 --- --- --- --- PASS TTC5 91875 broad.mit.edu 37 14 20768879 20768879 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:20768879C>G uc001vwt.2 - 3 340 c.283G>C c.(283-285)GCT>CCT p.A95P TTC5_uc001vwu.2_5'UTR NM_138376 NP_612385 Q8N0Z6 TTC5_HUMAN tetratricopeptide repeat domain 5 95 TPR 1. DNA repair cytoplasm|nucleus binding ovary(1) 1 all_cancers(95;0.00092) Epithelial(56;1.1e-06)|all cancers(55;8.07e-06) GBM - Glioblastoma multiforme(265;0.0106) AGCTTCACAGCCTTTGACAGA 0.537 83 168 --- --- --- --- PASS TEP1 7011 broad.mit.edu 37 14 20845477 20845477 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:20845477C>T uc001vxe.2 - 41 6090 c.6050G>A c.(6049-6051)GGA>GAA p.G2017E TEP1_uc010ahk.2_Missense_Mutation_p.G1360E|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.G1909E|TEP1_uc010tlh.1_Missense_Mutation_p.G355E NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 2017 WD 10. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGTGGCCAGTCCTAGCACAGG 0.488 13 43 --- --- --- --- PASS SLC39A2 29986 broad.mit.edu 37 14 21469569 21469569 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:21469569G>T uc001vyr.2 + 4 948 c.761G>T c.(760-762)CGG>CTG p.R254L SLC39A2_uc001vys.2_Missense_Mutation_p.R155L NM_014579 NP_055394 Q9NP94 S39A2_HUMAN solute carrier family 39 (zinc transporter), 254 Extracellular (Potential). cytoplasmic membrane-bounded vesicle|integral to plasma membrane zinc ion transmembrane transporter activity ovary(2)|central_nervous_system(1) 3 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0187) GAAGGAGGGCGGGGCTTAGCC 0.572 45 108 --- --- --- --- PASS SUPT16H 11198 broad.mit.edu 37 14 21831008 21831008 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:21831008G>C uc001wao.2 - 14 1949 c.1610C>G c.(1609-1611)ACT>AGT p.T537S NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 537 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CATTATTACAGTCTCATATTT 0.408 71 127 --- --- --- --- PASS OR10G2 26534 broad.mit.edu 37 14 22102631 22102631 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:22102631A>T uc010tmc.1 - 1 368 c.368T>A c.(367-369)ATG>AAG p.M123K NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, 123 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) GTCATAGGCCATCAAGGTGTA 0.527 11 32 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23871779 23871779 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:23871779C>T uc001wjv.2 - 12 1102 c.1035G>A c.(1033-1035)GAG>GAA p.E345E MYH6_uc010akp.1_Silent_p.E345E NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 345 Myosin head-like. 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) CAGCTTTCTCCTCTGAAGTGA 0.612 53 198 --- --- --- --- PASS DHRS2 10202 broad.mit.edu 37 14 24112405 24112405 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:24112405G>T uc001wkt.3 + 5 912 c.465G>T c.(463-465)CAG>CAT p.Q155H DHRS2_uc010aku.1_3'UTR|DHRS2_uc001wku.3_Missense_Mutation_p.Q155H|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Missense_Mutation_p.Q155H NM_182908 NP_878912 Q13268 DHRS2_HUMAN dehydrogenase/reductase member 2 isoform 1 133 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00659) TGCTGAGCCAGTTGCTGCCCT 0.587 51 275 --- --- --- --- PASS IPO4 79711 broad.mit.edu 37 14 24656300 24656300 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:24656300G>A uc001wmv.1 - 7 776 c.645C>T c.(643-645)CCC>CCT p.P215P IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_Silent_p.P79P|IPO4_uc001wmy.1_Silent_p.P79P|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Silent_p.P215P NM_024658 NP_078934 Q8TEX9 IPO4_HUMAN importin 4 215 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity kidney(1) 1 GBM - Glioblastoma multiforme(265;0.0087) CCTCATCTATGGGGATCAGAG 0.547 102 344 --- --- --- --- PASS TGM1 7051 broad.mit.edu 37 14 24731488 24731488 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:24731488G>C uc001wod.2 - 2 195 c.71C>G c.(70-72)TCT>TGT p.S24C TGM1_uc010tog.1_Translation_Start_Site NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 24 Membrane anchorage region. cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) TGGCTCTGGAGATGGCGTGGT 0.637 25 60 --- --- --- --- PASS C14orf21 161424 broad.mit.edu 37 14 24772360 24772360 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:24772360G>T uc001wol.1 + 6 1287 c.1224G>T c.(1222-1224)CTG>CTT p.L408L C14orf21_uc001wom.1_5'UTR NM_174913 NP_777573 Q86U38 CN021_HUMAN hypothetical protein LOC161424 408 RNA binding breast(2)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(265;0.0185) TCATTGCCCTGGTGGGGGCCT 0.557 32 97 --- --- --- --- PASS CBLN3 643866 broad.mit.edu 37 14 24898088 24898088 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:24898088C>A uc001wpg.3 - 1 644 c.173G>T c.(172-174)GGG>GTG p.G58V KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank NM_001039771 NP_001034860 Q6UW01 CBLN3_HUMAN cerebellin 3 precursor 58 cell junction|extracellular region|synapse p.G58G(1) central_nervous_system(1) 1 GBM - Glioblastoma multiforme(265;0.00159) TCCCCCGGGCCCCCCTGCAGC 0.726 5 15 --- --- --- --- PASS ARHGAP5 394 broad.mit.edu 37 14 32560672 32560672 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:32560672G>T uc001wrl.2 + 2 1036 c.797G>T c.(796-798)AGA>ATA p.R266I ARHGAP5_uc001wrm.2_Missense_Mutation_p.R266I|ARHGAP5_uc001wrn.2_Missense_Mutation_p.R266I|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 266 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) AAAACACAGAGACAACTTGTT 0.328 76 246 --- --- --- --- PASS AKAP6 9472 broad.mit.edu 37 14 33290637 33290637 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:33290637G>A uc001wrq.2 + 13 3788 c.3618G>A c.(3616-3618)TTG>TTA p.L1206L NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1206 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ATCCTGGCTTGATGGACCTAA 0.373 30 112 --- --- --- --- PASS NKX2-1 7080 broad.mit.edu 37 14 36987175 36987175 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:36987175C>G uc001wtt.2 - 2 765 c.424G>C c.(424-426)GGC>CGC p.G142R SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Missense_Mutation_p.G172R|NKX2-1_uc001wtv.2_Missense_Mutation_p.G142R|uc001wtw.1_5'Flank NM_003317 NP_003308 P43699 NKX21_HUMAN thyroid transcription factor 1 isoform 2 142 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding skin(1) 1 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) GAGCCCAGGCCGCCCATGCCG 0.706 A NSCLC 6 16 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42355819 42355819 + Translation_Start_Site SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:42355819C>A uc001wvm.2 + 3 1189 c.-9C>A c.(-11--7)ACCTG>ACATG LRFN5_uc010ana.2_Translation_Start_Site NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GCTCTTAAACCTGATCTACAA 0.338 HNSCC(30;0.082) 9 48 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42356171 42356171 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:42356171A>T uc001wvm.2 + 3 1541 c.343A>T c.(343-345)ACA>TCA p.T115S LRFN5_uc010ana.2_Missense_Mutation_p.T115S NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 115 Extracellular (Potential).|LRR 3. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GACTAAAATTACAAATGATAT 0.358 HNSCC(30;0.082) 47 86 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44974026 44974026 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:44974026T>A uc001wvn.2 - 1 2474 c.2165A>T c.(2164-2166)GAT>GTT p.D722V NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 722 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) CAGAAGCAAATCAGCTGGTGG 0.512 34 47 --- --- --- --- PASS FANCM 57697 broad.mit.edu 37 14 45645258 45645258 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:45645258C>G uc001wwd.3 + 14 3400 c.3301C>G c.(3301-3303)CAA>GAA p.Q1101E FANCM_uc010anf.2_Missense_Mutation_p.Q1075E|FANCM_uc001wwe.3_Missense_Mutation_p.Q637E|FANCM_uc010ang.2_Missense_Mutation_p.Q315E NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1101 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 CAATCGTGTTCAAATACACAG 0.348 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 49 74 --- --- --- --- PASS RPL10L 140801 broad.mit.edu 37 14 47120699 47120699 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:47120699C>A uc001wwg.2 - 1 330 c.241G>T c.(241-243)GGC>TGC p.G81C NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 81 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 CCATCTCTGCCACAACTTTTC 0.537 16 66 --- --- --- --- PASS MAP4K5 11183 broad.mit.edu 37 14 50909507 50909507 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:50909507C>T uc001wya.2 - 21 1827 c.1507G>A c.(1507-1509)GAT>AAT p.D503N MAP4K5_uc001wyb.2_Missense_Mutation_p.D503N|MAP4K5_uc010anv.1_Missense_Mutation_p.D503N|MAP4K5_uc001wyc.1_Missense_Mutation_p.D177N NM_006575 NP_006566 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase 503 activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(1) 1 all_epithelial(31;0.000415)|Breast(41;0.0102) GGACAGCCATCAAAAACTTTT 0.249 26 62 --- --- --- --- PASS PYGL 5836 broad.mit.edu 37 14 51378992 51378992 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:51378992C>A uc001wyu.2 - 14 1777 c.1650G>T c.(1648-1650)CTG>CTT p.L550L PYGL_uc010tqq.1_Silent_p.L516L|PYGL_uc001wyv.2_Silent_p.L224L NM_002863 NP_002854 P06737 PYGL_HUMAN liver glycogen phosphorylase isoform 1 550 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding skin(1) 1 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) ACTCCGTCTCCAGGAACTGAG 0.443 91 156 --- --- --- --- PASS CGRRF1 10668 broad.mit.edu 37 14 55004942 55004942 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:55004942G>T uc001xay.2 + 6 931 c.840G>T c.(838-840)GGG>GGT p.G280G CGRRF1_uc001xaz.2_RNA NM_006568 NP_006559 Q99675 CGRF1_HUMAN cell growth regulator with ring finger domain 1 280 RING-type. cell cycle arrest|negative regulation of cell proliferation|response to stress zinc ion binding ovary(1) 1 GCCAGAATGGGACTGTGAACT 0.473 36 75 --- --- --- --- PASS RTN1 6252 broad.mit.edu 37 14 60193658 60193658 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:60193658G>T uc001xen.1 - 3 1953 c.1744C>A c.(1744-1746)CTG>ATG p.L582M RTN1_uc001xem.1_Missense_Mutation_p.L162M NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 582 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TTGAGAAACAGCAGTGGGGGC 0.582 4 16 --- --- --- --- PASS SYT16 83851 broad.mit.edu 37 14 62462806 62462806 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:62462806G>T uc001xfu.1 + 1 266 c.69G>T c.(67-69)CGG>CGT p.R23R SYT16_uc010tsd.1_Silent_p.R23R NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 23 central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GGATATCTCGGGTTTATGAAG 0.453 30 69 --- --- --- --- PASS RHOJ 57381 broad.mit.edu 37 14 63749907 63749907 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:63749907C>A uc001xgb.1 + 4 914 c.471C>A c.(469-471)TAC>TAA p.Y157* NM_020663 NP_065714 Q9H4E5 RHOJ_HUMAN ras homolog gene family, member J precursor 157 actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) CTCTCACTTACGAGCATGGTG 0.413 42 55 --- --- --- --- PASS RAD51L1 5890 broad.mit.edu 37 14 68290268 68290268 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:68290268G>T uc001xkf.1 + 2 72 c.8G>T c.(7-9)AGC>ATC p.S3I RAD51L1_uc010aqq.2_Missense_Mutation_p.S3I|RAD51L1_uc001xkd.2_Missense_Mutation_p.S3I|RAD51L1_uc010aqr.2_5'UTR|RAD51L1_uc001xke.2_Missense_Mutation_p.S3I|RAD51L1_uc010aqs.1_Missense_Mutation_p.S3I|RAD51L1_uc001xkg.1_Missense_Mutation_p.S3I NM_133509 NP_598193 O15315 RA51B_HUMAN RAD51-like 1 isoform 3 3 blood coagulation|DNA repair|reciprocal meiotic recombination nucleoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 UCEC - Uterine corpus endometrioid carcinoma (185;0.163)|all cancers(60;3.9e-06)|OV - Ovarian serous cystadenocarcinoma(108;0.000103)|BRCA - Breast invasive adenocarcinoma(234;0.000421) GGCATGGGTAGCAAGAAACTA 0.348 T HMGA2 lipoma|uterine leiomyoma Direct_reversal_of_damage|Homologous_recombination 35 80 --- --- --- --- PASS SLC8A3 6547 broad.mit.edu 37 14 70634430 70634430 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:70634430G>A uc001xly.2 - 2 1464 c.710C>T c.(709-711)ACT>ATT p.T237I SLC8A3_uc001xlw.2_Missense_Mutation_p.T237I|SLC8A3_uc001xlx.2_Missense_Mutation_p.T237I|SLC8A3_uc001xlz.2_Missense_Mutation_p.T237I|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 237 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) GAAGAAGAGAGTGAGGAGGCC 0.493 39 59 --- --- --- --- PASS SLC8A3 6547 broad.mit.edu 37 14 70634971 70634971 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:70634971C>A uc001xly.2 - 2 923 c.169G>T c.(169-171)GGT>TGT p.G57C SLC8A3_uc001xlw.2_Missense_Mutation_p.G57C|SLC8A3_uc001xlx.2_Missense_Mutation_p.G57C|SLC8A3_uc001xlz.2_Missense_Mutation_p.G57C|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 57 Extracellular (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) AGGATGACACCCTCCTTGCAG 0.547 24 43 --- --- --- --- PASS ADAM21 8747 broad.mit.edu 37 14 70925091 70925091 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:70925091A>T uc001xmd.2 + 1 875 c.875A>T c.(874-876)CAT>CTT p.H292L NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 preproprotein 292 Peptidase M12B.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding pancreas(1)|skin(1) 2 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CAGCTACAGCATGATGCTGCA 0.383 71 124 --- --- --- --- PASS MAP3K9 4293 broad.mit.edu 37 14 71215569 71215569 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:71215569C>A uc001xmm.2 - 5 1303 c.1303G>T c.(1303-1305)GAC>TAC p.D435Y MAP3K9_uc010ttk.1_Missense_Mutation_p.D172Y|MAP3K9_uc001xmk.2_Missense_Mutation_p.D129Y|MAP3K9_uc001xml.2_Missense_Mutation_p.D435Y NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 435 Leucine-zipper 1. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CTGAGTTGGTCAAACATCTCC 0.363 35 138 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71479701 71479701 + Splice_Site SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:71479701G>T uc001xmo.2 + 11 3225 c.2779_splice c.e11-1 p.L927_splice PCNX_uc010are.1_Intron|PCNX_uc010arf.1_5'Flank NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CTTTCTTTTAGCTCTCTCTCC 0.308 52 82 --- --- --- --- PASS SIPA1L1 26037 broad.mit.edu 37 14 72138213 72138213 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:72138213T>C uc001xms.2 + 8 2981 c.2633T>C c.(2632-2634)TTA>TCA p.L878S SIPA1L1_uc001xmt.2_Missense_Mutation_p.L878S|SIPA1L1_uc001xmu.2_Missense_Mutation_p.L878S|SIPA1L1_uc001xmv.2_Missense_Mutation_p.L878S|SIPA1L1_uc010ttm.1_Missense_Mutation_p.L353S NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 878 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) GACTGCCTTTTAGGGATCTCC 0.493 51 140 --- --- --- --- PASS SIPA1L1 26037 broad.mit.edu 37 14 72205015 72205015 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:72205015G>A uc001xms.2 + 21 5592 c.5244G>A c.(5242-5244)CTG>CTA p.L1748L SIPA1L1_uc001xmt.2_Silent_p.L1727L|SIPA1L1_uc001xmu.2_Silent_p.L1726L|SIPA1L1_uc001xmv.2_Silent_p.L1747L|SIPA1L1_uc010ttm.1_Silent_p.L1201L|SIPA1L1_uc001xmw.2_Silent_p.L513L NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1748 Potential. 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) AAGGTATGCTGAAGATGCTTC 0.458 46 61 --- --- --- --- PASS ENTPD5 957 broad.mit.edu 37 14 74443726 74443726 + Splice_Site SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:74443726C>G uc010tuo.1 - 8 864 c.553_splice c.e8+1 p.G185_splice ENTPD5_uc001xpi.2_Splice_Site_p.G185_splice NM_001249 NP_001240 O75356 ENTP5_HUMAN ectonucleoside triphosphate diphosphohydrolase 5 'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade endoplasmic reticulum lumen guanosine-diphosphatase activity|uridine-diphosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00394) GGATGTATTACCTGTCAGAAA 0.363 43 80 --- --- --- --- PASS PROX2 283571 broad.mit.edu 37 14 75330491 75330491 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:75330491G>C uc001xqr.1 - 1 47 c.47C>G c.(46-48)TCC>TGC p.S16C PROX2_uc001xqq.1_5'UTR NM_001080408 NP_001073877 Q3B8N5 PROX2_HUMAN prospero homeobox 2 16 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) TGCTAGGTGGGAGCAGATCTG 0.562 13 92 --- --- --- --- PASS NGB 58157 broad.mit.edu 37 14 77732943 77732943 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:77732943G>T uc001xtg.1 - 4 767 c.392C>A c.(391-393)GCT>GAT p.A131D NM_021257 NP_067080 Q9NPG2 NGB_HUMAN neuroglobin 131 Globin. hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0273) GCTCCAGGCAGCCCGTGTGGC 0.637 13 65 --- --- --- --- PASS NRXN3 9369 broad.mit.edu 37 14 79434664 79434664 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:79434664C>T uc001xun.2 + 11 2489 c.1998C>T c.(1996-1998)AGC>AGT p.S666S NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.S791S NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1039 Extracellular (Potential).|Laminin G-like 5. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TTCATCGGAGCGGACAGATCG 0.522 13 94 --- --- --- --- PASS SEL1L 6400 broad.mit.edu 37 14 81956810 81956810 + Splice_Site SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:81956810C>G uc010tvv.1 - 13 1372 c.1255_splice c.e13-1 p.M419_splice NM_005065 NP_005056 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like precursor Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0299) CCGAATACATCTGGAAAACAG 0.398 21 86 --- --- --- --- PASS GPR65 8477 broad.mit.edu 37 14 88478168 88478168 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:88478168C>A uc001xvv.2 + 2 1507 c.977C>A c.(976-978)TCT>TAT p.S326Y NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 326 Cytoplasmic (Potential). actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity 0 CTTTCTGTGTCTACAAAAGAT 0.343 16 62 --- --- --- --- PASS KCNK10 54207 broad.mit.edu 37 14 88652436 88652436 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:88652436T>A uc001xwo.2 - 7 1517 c.1060A>T c.(1060-1062)ACA>TCA p.T354S KCNK10_uc001xwm.2_Missense_Mutation_p.T359S|KCNK10_uc001xwn.2_Missense_Mutation_p.T359S NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 354 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 CTTCGCCGTGTCTCCCGGAAC 0.632 7 27 --- --- --- --- PASS KCNK10 54207 broad.mit.edu 37 14 88654339 88654339 + Missense_Mutation SNP C G G rs149714386 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:88654339C>G uc001xwo.2 - 6 1425 c.968G>C c.(967-969)CGG>CCG p.R323P KCNK10_uc001xwm.2_Missense_Mutation_p.R328P|KCNK10_uc001xwn.2_Missense_Mutation_p.R328P NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 323 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity p.R323Q(1) ovary(2)|skin(2)|pancreas(1) 5 GGACAGAACCCGTAGCCAATC 0.473 48 111 --- --- --- --- PASS SLC24A4 123041 broad.mit.edu 37 14 92953010 92953010 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:92953010G>A uc001yak.2 + 14 1396 c.1372G>A c.(1372-1374)GTG>ATG p.V458M SLC24A4_uc001yai.2_Missense_Mutation_p.V411M|SLC24A4_uc010twm.1_Missense_Mutation_p.V456M|SLC24A4_uc001yaj.2_Missense_Mutation_p.V439M|SLC24A4_uc010auj.2_Missense_Mutation_p.V347M|SLC24A4_uc010twn.1_Missense_Mutation_p.V231M|SLC24A4_uc001yan.2_Missense_Mutation_p.V169M NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 475 Helical; (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CATTCTGCAGGTGACTATTAT 0.463 12 48 --- --- --- --- PASS UBR7 55148 broad.mit.edu 37 14 93686750 93686750 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:93686750C>G uc001ybm.3 + 9 1352 c.1116C>G c.(1114-1116)CTC>CTG p.L372L UBR7_uc001ybn.3_Silent_p.L296L|UBR7_uc010auq.2_Silent_p.L221L NM_175748 NP_786924 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 372 ubiquitin-protein ligase activity|zinc ion binding 0 AAGTGGAACTCATTTGTGGTA 0.383 47 144 --- --- --- --- PASS SERPINA4 5267 broad.mit.edu 37 14 95033367 95033367 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:95033367A>G uc001ydk.2 + 3 776 c.710A>G c.(709-711)GAG>GGG p.E237G SERPINA4_uc010avd.2_Missense_Mutation_p.E274G|SERPINA4_uc001ydl.2_Missense_Mutation_p.E237G NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 237 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) TATGTTGATGAGAACACAACA 0.502 44 66 --- --- --- --- PASS ATG2B 55102 broad.mit.edu 37 14 96777530 96777530 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:96777530T>C uc001yfi.2 - 28 4450 c.4085A>G c.(4084-4086)TAC>TGC p.Y1362C NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1362 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) GCTTGCAATGTACTGAATGAG 0.468 106 156 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102510221 102510221 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:102510221G>T uc001yks.2 + 70 12687 c.12523G>T c.(12523-12525)GAG>TAG p.E4175* NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 4175 AAA 6 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 GTCTCCCAACGAGCGTGCCCG 0.498 28 42 --- --- --- --- PASS TDRD9 122402 broad.mit.edu 37 14 104472878 104472878 + Silent SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:104472878A>G uc001yom.3 + 16 1896 c.1866A>G c.(1864-1866)GAA>GAG p.E622E TDRD9_uc001yon.3_Silent_p.E360E NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 622 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) GTCTAGATGAATGTCTTATTA 0.338 23 38 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105409082 105409082 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:105409082C>A uc010axc.1 - 7 12826 c.12706G>T c.(12706-12708)GTG>TTG p.V4236L AHNAK2_uc001ypx.2_Missense_Mutation_p.V4136L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4236 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) TTGACATCCACCTGGGGGCCC 0.652 125 155 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105414415 105414415 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:105414415G>A uc010axc.1 - 7 7493 c.7373C>T c.(7372-7374)GCC>GTC p.A2458V AHNAK2_uc001ypx.2_Missense_Mutation_p.A2358V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2458 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) ATCCAGCTTGGCTCCCGGGGC 0.622 109 135 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106174975 106174975 + RNA SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:106174975G>T uc010tyt.1 - 3631 c.59359C>A uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron Parts of antibodies, mostly variable regions. 0 AGGCTCAGCGGGAAGACCTTG 0.537 9 59 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106815966 106815966 + RNA SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:106815966G>C uc010tyt.1 - 342 c.13193C>G Parts of antibodies, mostly variable regions. 0 GAGTCTCAGGGACCTCCCAGG 0.597 35 127 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106829886 106829886 + RNA SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:106829886G>T uc010tyt.1 - 323 c.12619C>A uc001ysx.1_RNA Parts of antibodies, mostly variable regions. 0 CTGCACCTGGGACAGGACCCC 0.562 14 46 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106967359 106967359 + RNA SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr14:106967359G>T uc010tyt.1 - 201 c.9082C>A Parts of antibodies, mostly variable regions. 0 AGCACCTGCGGAGAGGACACA 0.562 34 109 --- --- --- --- PASS TUBGCP5 114791 broad.mit.edu 37 15 22867508 22867508 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:22867508G>T uc001yur.3 + 19 2714 c.2584G>T c.(2584-2586)GAA>TAA p.E862* TUBGCP5_uc001yuq.2_Nonsense_Mutation_p.E862* NM_052903 NP_443135 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 862 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CCTTATACATGAACAAGACAC 0.408 52 50 --- --- --- --- PASS MAGEL2 54551 broad.mit.edu 37 15 23889233 23889233 + Silent SNP C G G rs140288382 by1000genomes TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:23889233C>G uc001ywj.3 - 1 1943 c.1848G>C c.(1846-1848)GCG>GCC p.A616A NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) ACTCTGCGAGCGCTTCAAGGT 0.557 12 82 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26806217 26806217 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:26806217G>T uc001zaz.2 - 8 1084 c.942C>A c.(940-942)TTC>TTA p.F314L GABRB3_uc010uae.1_Missense_Mutation_p.F229L|GABRB3_uc001zba.2_Missense_Mutation_p.F314L|GABRB3_uc001zbb.2_Missense_Mutation_p.F370L NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 314 Helical; (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 upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ACACAAAGACGAAGCAGCCCA 0.483 56 80 --- --- --- --- PASS GABRG3 2567 broad.mit.edu 37 15 27271968 27271968 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:27271968G>T uc001zbg.1 + 3 436 c.270G>T c.(268-270)ATG>ATT p.M90I GABRG3_uc001zbf.2_Missense_Mutation_p.M90I NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 90 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CAATAAACATGGTAAGAAGCT 0.358 6 41 --- --- --- --- PASS OCA2 4948 broad.mit.edu 37 15 28234752 28234752 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:28234752C>A uc001zbh.3 - 11 1287 c.1177G>T c.(1177-1179)GGC>TGC p.G393C OCA2_uc010ayv.2_Missense_Mutation_p.G369C NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 393 Helical; (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) ATTACCATGCCAAACAGCAGG 0.552 Oculocutaneous_Albinism 14 45 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33927967 33927967 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:33927967C>A uc001zhi.2 + 26 3398 c.3328C>A c.(3328-3330)CCT>ACT p.P1110T RYR3_uc010bar.2_Missense_Mutation_p.P1110T NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1110 B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGGCTGTCGACCTGATGTCGA 0.512 9 23 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33927968 33927968 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:33927968C>A uc001zhi.2 + 26 3399 c.3329C>A c.(3328-3330)CCT>CAT p.P1110H RYR3_uc010bar.2_Missense_Mutation_p.P1110H NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1110 B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGCTGTCGACCTGATGTCGAG 0.512 9 24 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33928020 33928020 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:33928020G>T uc001zhi.2 + 26 3451 c.3381G>T c.(3379-3381)AGG>AGT p.R1127S RYR3_uc010bar.2_Missense_Mutation_p.R1127S NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1127 B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AAGGCAACAGGGTGAGTTTAT 0.502 4 11 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33952004 33952004 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:33952004G>A uc001zhi.2 + 33 4462 c.4392G>A c.(4390-4392)CTG>CTA p.L1464L RYR3_uc010bar.2_Silent_p.L1464L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1464 4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTGGAAAGCTGAAGGTATTTA 0.438 12 28 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33952493 33952493 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:33952493C>G uc001zhi.2 + 34 4561 c.4491C>G c.(4489-4491)CCC>CCG p.P1497P RYR3_uc010bar.2_Silent_p.P1497P NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1497 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCATCCAGCCCGTGCTCTGGA 0.632 3 2 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34023743 34023743 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:34023743C>A uc001zhi.2 + 48 7342 c.7272C>A c.(7270-7272)CTC>CTA p.L2424L RYR3_uc010bar.2_Silent_p.L2424L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2424 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGCTCCCGCTCCTCACAAGAT 0.488 22 30 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34080547 34080547 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:34080547G>T uc001zhi.2 + 67 9788 c.9718G>T c.(9718-9720)GGC>TGC p.G3240C RYR3_uc010bar.2_Missense_Mutation_p.G3240C NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3240 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GAAAGCCGATGGCAAAGGGGA 0.567 74 116 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34109111 34109111 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:34109111A>G uc001zhi.2 + 75 10621 c.10551A>G c.(10549-10551)ATA>ATG p.I3517M RYR3_uc010bar.2_Missense_Mutation_p.I3512M NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3517 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GATTTTGGATAGAAACAGAGG 0.458 16 13 --- --- --- --- PASS ACTC1 70 broad.mit.edu 37 15 35082705 35082705 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:35082705G>T uc001ziu.1 - 7 1285 c.1042C>A c.(1042-1044)CTG>ATG p.L348M uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 348 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) AGAGAGGCCAGGATGGAGCCC 0.483 33 140 --- --- --- --- PASS FAM98B 283742 broad.mit.edu 37 15 38765759 38765759 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:38765759G>T uc001zkb.1 + 5 620 c.585G>T c.(583-585)CTG>CTT p.L195L FAM98B_uc001zkc.2_Silent_p.L195L NM_001042429 NP_001035894 Q52LJ0 FA98B_HUMAN family with sequence similarity 98, member B 195 tRNA-splicing ligase complex protein binding ovary(1) 1 all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209) AACCACTGCTGAAAATGGATT 0.274 35 52 --- --- --- --- PASS BAHD1 22893 broad.mit.edu 37 15 40751488 40751488 + Nonsense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:40751488G>A uc001zlu.2 + 2 896 c.825G>A c.(823-825)TGG>TGA p.W275* BAHD1_uc001zlt.2_Nonsense_Mutation_p.W275*|BAHD1_uc010bbp.1_Nonsense_Mutation_p.W275*|BAHD1_uc001zlv.2_Nonsense_Mutation_p.W275* NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 275 Pro-rich. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CACCTGGCTGGCAAGGCTGCC 0.632 8 72 --- --- --- --- PASS PPIP5K1 9677 broad.mit.edu 37 15 43831688 43831688 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:43831688C>G uc001zrw.2 - 30 3662 c.3479G>C c.(3478-3480)CGC>CCC p.R1160P PPIP5K1_uc001zrx.1_Missense_Mutation_p.R1093P|PPIP5K1_uc001zru.2_Missense_Mutation_p.R1135P|PPIP5K1_uc001zry.3_Missense_Mutation_p.R1135P|PPIP5K1_uc001zrv.2_Intron NM_001130858 NP_001124330 Q6PFW1 VIP1_HUMAN histidine acid phosphatase domain containing 2A 1160 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity 0 CTTCTCAGAGCGCTGCTGGAG 0.507 3 11 --- --- --- --- PASS SPG11 80208 broad.mit.edu 37 15 44890865 44890865 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:44890865C>A uc001ztx.2 - 22 3887 c.3856G>T c.(3856-3858)GAA>TAA p.E1286* SPG11_uc010ueh.1_Nonsense_Mutation_p.E1286*|SPG11_uc010uei.1_Nonsense_Mutation_p.E1286*|SPG11_uc001zty.1_Nonsense_Mutation_p.E15* NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1286 Cytoplasmic (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TGAGCATCTTCATTTCTGCAC 0.418 58 87 --- --- --- --- PASS DUOX2 50506 broad.mit.edu 37 15 45398789 45398789 + Nonsense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:45398789T>A uc010bea.2 - 16 2085 c.1882A>T c.(1882-1884)AAG>TAG p.K628* DUOX2_uc001zun.2_Nonsense_Mutation_p.K628* NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 628 Cytoplasmic (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) TGTAGCTTCTTGTGTTCTCGG 0.562 52 165 --- --- --- --- PASS DUOX2 50506 broad.mit.edu 37 15 45401780 45401780 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:45401780C>A uc010bea.2 - 11 1379 c.1176G>T c.(1174-1176)CTG>CTT p.L392L DUOX2_uc001zun.2_Silent_p.L392L NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 392 Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AGGCCATTCCCAGCAGCAGCT 0.522 58 81 --- --- --- --- PASS GABPB1 2553 broad.mit.edu 37 15 50581845 50581845 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:50581845C>A uc001zyb.2 - 7 1178 c.754G>T c.(754-756)GTT>TTT p.V252F GABPB1_uc001zya.2_Missense_Mutation_p.V240F|GABPB1_uc010ufg.1_Missense_Mutation_p.V176F|GABPB1_uc001zyc.2_Missense_Mutation_p.V240F|GABPB1_uc001zyd.2_Missense_Mutation_p.V240F|GABPB1_uc001zye.2_Missense_Mutation_p.V252F|GABPB1_uc001zyf.2_Missense_Mutation_p.V239F NM_005254 NP_005245 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta 252 positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1) 1 TCTGCAGTAACTACTTCTTCT 0.378 17 59 --- --- --- --- PASS CYP19A1 1588 broad.mit.edu 37 15 51503227 51503227 + Missense_Mutation SNP A C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:51503227A>C uc001zyz.3 - 11 1541 c.1290T>G c.(1288-1290)TTT>TTG p.F430L CYP19A1_uc001zza.3_Missense_Mutation_p.F430L NM_031226 NP_112503 P11511 CP19A_HUMAN cytochrome P450, family 19 430 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) GCCCAAAGCCAAATGGCTGAA 0.448 35 74 --- --- --- --- PASS DMXL2 23312 broad.mit.edu 37 15 51757049 51757049 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:51757049C>A uc002abf.2 - 32 7853 c.7628G>T c.(7627-7629)GGT>GTT p.G2543V DMXL2_uc002abd.2_Missense_Mutation_p.G614V|DMXL2_uc010ufy.1_Missense_Mutation_p.G2544V|DMXL2_uc010bfa.2_Missense_Mutation_p.G1907V NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2543 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) CACAGCAATACCTAATGGTGA 0.343 66 85 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54527271 54527271 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:54527271C>G uc002ack.2 + 4 3115 c.3115C>G c.(3115-3117)CGC>GGC p.R1039G NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1039 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) GCCGGATCTTCGCAGAAAAAA 0.358 24 51 --- --- --- --- PASS PRTG 283659 broad.mit.edu 37 15 55970146 55970146 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:55970146C>T uc002adg.2 - 8 1278 c.1230G>A c.(1228-1230)CTG>CTA p.L410L PRTG_uc002adh.2_5'Flank NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 410 Ig-like 4. multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TCACTACAGTCAGTCTGGCTC 0.418 58 67 --- --- --- --- PASS HERC1 8925 broad.mit.edu 37 15 63922665 63922665 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:63922665C>T uc002amp.2 - 69 13114 c.12966G>A c.(12964-12966)CAG>CAA p.Q4322Q NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 4322 RCC1 14.|WD 11. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 AAATATTTACCTGCCCTTCTG 0.418 73 260 --- --- --- --- PASS CORO2B 10391 broad.mit.edu 37 15 69011060 69011060 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:69011060G>T uc002arj.3 + 9 1020 c.991G>T c.(991-993)GAT>TAT p.D331Y CORO2B_uc010bic.2_Missense_Mutation_p.D326Y|CORO2B_uc002ark.2_Missense_Mutation_p.D98Y NM_006091 NP_006082 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 331 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding ovary(3)|skin(2)|large_intestine(1) 6 GCACGGGCTGGATGTGTCAGC 0.597 11 50 --- --- --- --- PASS CORO2B 10391 broad.mit.edu 37 15 69018240 69018240 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:69018240C>G uc002arj.3 + 12 1399 c.1370C>G c.(1369-1371)GCC>GGC p.A457G CORO2B_uc010bic.2_Missense_Mutation_p.A452G|CORO2B_uc002ark.2_Missense_Mutation_p.A224G NM_006091 NP_006082 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 457 Potential. actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding ovary(3)|skin(2)|large_intestine(1) 6 GAGGAGCTGGCCCAGAAGGAC 0.577 30 66 --- --- --- --- PASS LRRC49 54839 broad.mit.edu 37 15 71256238 71256238 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:71256238G>T uc002asw.2 + 9 1135 c.888G>T c.(886-888)ATG>ATT p.M296I LRRC49_uc002asu.2_Missense_Mutation_p.M286I|LRRC49_uc002asx.2_Missense_Mutation_p.M252I|LRRC49_uc010ukf.1_Missense_Mutation_p.M301I|LRRC49_uc002asy.2_Missense_Mutation_p.M2I|LRRC49_uc002asz.2_Missense_Mutation_p.M268I NM_017691 NP_060161 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 296 LRRCT. cytoplasm|microtubule ovary(1) 1 AGAATATGATGCAGCTGCGCC 0.468 40 71 --- --- --- --- PASS MYO9A 4649 broad.mit.edu 37 15 72324912 72324912 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:72324912C>A uc002atl.3 - 3 1331 c.858G>T c.(856-858)AAG>AAT p.K286N MYO9A_uc010biq.2_5'UTR|MYO9A_uc002ato.2_Missense_Mutation_p.K286N|MYO9A_uc002atn.1_Missense_Mutation_p.K286N NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 286 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 TATGAGCTGTCTTTGCATTTC 0.358 24 80 --- --- --- --- PASS ISLR2 57611 broad.mit.edu 37 15 74425228 74425228 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:74425228G>T uc002axd.2 + 4 902 c.133G>T c.(133-135)GTG>TTG p.V45L ISLR2_uc002axe.2_Missense_Mutation_p.V45L|ISLR2_uc010bjg.2_Missense_Mutation_p.V45L|ISLR2_uc010bjf.2_Missense_Mutation_p.V45L NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 45 Extracellular (Potential).|LRRNT. positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 GTTGCGTGAGGTGCCGGAAGG 0.637 26 107 --- --- --- --- PASS CLK3 1198 broad.mit.edu 37 15 74912388 74912388 + Missense_Mutation SNP G T T rs146399462 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:74912388G>T uc010uln.1 + 3 1096 c.635G>T c.(634-636)CGC>CTC p.R212L CLK3_uc002ayg.3_Missense_Mutation_p.R64L|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R212L|CLK3_uc002ayj.3_Missense_Mutation_p.R64L|CLK3_uc002ayk.3_5'UTR NM_001130028 NP_001123500 P49761 CLK3_HUMAN CDC-like kinase 3 isoform a 212 Arg-rich. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2) 2 TACCGGGAGCGCCGTGACAGC 0.607 25 123 --- --- --- --- PASS C15orf39 56905 broad.mit.edu 37 15 75499670 75499670 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:75499670A>T uc002azp.3 + 2 1601 c.1281A>T c.(1279-1281)TCA>TCT p.S427S C15orf39_uc002azq.3_Silent_p.S427S|C15orf39_uc002azr.3_5'Flank NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN hypothetical protein LOC56905 427 0 AGCCCTGCTCAGAGCCTGTGA 0.642 22 55 --- --- --- --- PASS CSPG4 1464 broad.mit.edu 37 15 75968836 75968836 + Silent SNP G T T rs150399169 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:75968836G>T uc002baw.2 - 10 6117 c.6024C>A c.(6022-6024)GGC>GGA p.G2008G NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 2008 Extracellular (Potential).|CSPG 14.|Cysteine-containing.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 AGACCACCTCGCCCTGGTCTA 0.597 84 103 --- --- --- --- PASS CSPG4 1464 broad.mit.edu 37 15 75979665 75979665 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:75979665G>T uc002baw.2 - 3 3834 c.3741C>A c.(3739-3741)ATC>ATA p.I1247I NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 1247 CSPG 8.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 GGAAGACGTAGATCTTCTTGT 0.617 33 136 --- --- --- --- PASS CSPG4 1464 broad.mit.edu 37 15 75982632 75982632 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:75982632G>T uc002baw.2 - 3 867 c.774C>A c.(772-774)GGC>GGA p.G258G NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 258 Extracellular (Potential).|Neurite growth inhibition (By similarity).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 CCCGCAGGTGGCCCTCAAATA 0.617 11 51 --- --- --- --- PASS ETFA 2108 broad.mit.edu 37 15 76566836 76566836 + Splice_Site SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:76566836C>T uc002bbt.2 - 9 815 c.734_splice c.e9-1 p.V245_splice ETFA_uc010bkq.1_Splice_Site_p.V196_splice|ETFA_uc002bbu.1_Splice_Site_p.V245_splice NM_000126 NP_000117 P13804 ETFA_HUMAN electron transfer flavoprotein, alpha respiratory electron transport chain|transport mitochondrial matrix electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity 0 GAAGCACCAACTAAGGGGAAA 0.363 16 39 --- --- --- --- PASS LINGO1 84894 broad.mit.edu 37 15 77907420 77907420 + Missense_Mutation SNP C G G rs111741384 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:77907420C>G uc002bct.1 - 2 881 c.829G>C c.(829-831)GCT>CCT p.A277P LINGO1_uc002bcu.1_Missense_Mutation_p.A271P NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 277 Extracellular (Potential).|LRR 8. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 TAGGGCACAGCGGTCAGATTG 0.577 21 68 --- --- --- --- PASS RASGRF1 5923 broad.mit.edu 37 15 79277507 79277507 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:79277507C>A uc002beq.2 - 24 3679 c.3304G>T c.(3304-3306)GAC>TAC p.D1102Y RASGRF1_uc002bep.2_Missense_Mutation_p.D1086Y|RASGRF1_uc010blm.1_Missense_Mutation_p.D1011Y|RASGRF1_uc002ber.3_Missense_Mutation_p.D1086Y|RASGRF1_uc002beo.2_Missense_Mutation_p.D318Y NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 1104 Ras-GEF. 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 GCGTTGATGTCCTCATTGCGG 0.373 73 89 --- --- --- --- PASS NTRK3 4916 broad.mit.edu 37 15 88476298 88476298 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:88476298G>C uc002bme.1 - 15 1996 c.1834C>G c.(1834-1836)CCC>GCC p.P612A NTRK3_uc002bmh.2_Missense_Mutation_p.P604A|NTRK3_uc002bmf.1_Missense_Mutation_p.P612A|NTRK3_uc010upl.1_Missense_Mutation_p.P514A|NTRK3_uc010bnh.1_Missense_Mutation_p.P604A NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 612 Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) ATGATGAGGGGGTCCCCATCG 0.557 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 22 36 --- --- --- --- PASS NTRK3 4916 broad.mit.edu 37 15 88669594 88669594 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:88669594G>T uc002bme.1 - 12 1466 c.1304C>A c.(1303-1305)GCA>GAA p.A435E NTRK3_uc002bmh.2_Missense_Mutation_p.A427E|NTRK3_uc002bmf.1_Missense_Mutation_p.A435E|NTRK3_uc010upl.1_Missense_Mutation_p.A337E|NTRK3_uc010bnh.1_Missense_Mutation_p.A427E|NTRK3_uc002bmg.2_Missense_Mutation_p.A435E NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 435 Helical; (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) AAGTCCAACTGCTATGGATAC 0.443 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 49 58 --- --- --- --- PASS NTRK3 4916 broad.mit.edu 37 15 88679775 88679775 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:88679775T>A uc002bme.1 - 7 850 c.688A>T c.(688-690)ACT>TCT p.T230S NTRK3_uc002bmh.2_Missense_Mutation_p.T230S|NTRK3_uc002bmf.1_Missense_Mutation_p.T230S|NTRK3_uc010upl.1_Missense_Mutation_p.T132S|NTRK3_uc010bnh.1_Missense_Mutation_p.T230S|NTRK3_uc002bmg.2_Missense_Mutation_p.T230S NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 230 Ig-like C2-type 1.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) CCATTGCAAGTGATAACAGCG 0.557 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 21 43 --- --- --- --- PASS WDR93 56964 broad.mit.edu 37 15 90258209 90258209 + Splice_Site SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:90258209A>T uc002boj.2 + 6 742 c.641_splice c.e6-2 p.G214_splice WDR93_uc010bnr.2_Splice_Site_p.G214_splice NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN WD repeat domain 93 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH ovary(2) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TTCCCAATGCAGGAGCCGGAG 0.458 5 31 --- --- --- --- PASS CRTC3 64784 broad.mit.edu 37 15 91185216 91185216 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:91185216G>A uc002bpp.2 + 15 1810 c.1704G>A c.(1702-1704)CTG>CTA p.L568L CRTC3_uc002bpo.2_Silent_p.L567L NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN transducer of regulated CREB protein 3 isoform 568 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) salivary_gland(26)|ovary(1) 27 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) TGGCAGGCCTGCCTGAGGTCA 0.562 T MAML2 salivary gland mucoepidermoid 45 75 --- --- --- --- PASS CHD2 1106 broad.mit.edu 37 15 93480847 93480847 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:93480847C>A uc002bsp.2 + 6 1118 c.543C>A c.(541-543)GTC>GTA p.V181V CHD2_uc002bsm.1_Silent_p.V181V|CHD2_uc002bsn.2_Silent_p.V181V|CHD2_uc002bso.1_Silent_p.V181V|CHD2_uc010urb.1_Silent_p.V194V NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 181 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GAAGACCTGTCCCCAGAAGGT 0.438 7 35 --- --- --- --- PASS MCTP2 55784 broad.mit.edu 37 15 94913349 94913349 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:94913349G>T uc002btj.2 + 11 1587 c.1522G>T c.(1522-1524)GTC>TTC p.V508F MCTP2_uc002bti.2_Missense_Mutation_p.V508F|MCTP2_uc010boj.2_Missense_Mutation_p.V237F|MCTP2_uc010bok.2_Missense_Mutation_p.V508F|MCTP2_uc002btk.3_Missense_Mutation_p.V96F|MCTP2_uc002btl.2_Missense_Mutation_p.V96F NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 isoform 1 508 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TGTGAAAGACGTCGGCATTCT 0.358 35 49 --- --- --- --- PASS LRRC28 123355 broad.mit.edu 37 15 99926293 99926293 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:99926293G>C uc002bva.1 + 10 1245 c.1090G>C c.(1090-1092)GAC>CAC p.D364H LRRC28_uc002bvb.1_Missense_Mutation_p.D210H|LRRC28_uc010urt.1_Missense_Mutation_p.D178H|LRRC28_uc002bvc.1_Missense_Mutation_p.L310F|LRRC28_uc010uru.1_Missense_Mutation_p.D295H|LRRC28_uc002bvd.1_Missense_Mutation_p.D90H NM_144598 NP_653199 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 364 0 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) GCAGACTTTTGACCTGCTGAG 0.517 210 322 --- --- --- --- PASS C15orf51 196968 broad.mit.edu 37 15 100332063 100332063 + RNA SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:100332063G>A uc010urx.1 - 5 c.2129C>T C15orf51_uc010ury.1_RNA NR_003260 Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288. 0 CGTTCGTTCTGTGTATGCCCC 0.562 11 51 --- --- --- --- PASS LRRK1 79705 broad.mit.edu 37 15 101554532 101554532 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:101554532C>T uc002bwr.2 + 11 1750 c.1431C>T c.(1429-1431)TTC>TTT p.F477F LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 477 LRR 9. 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) CCCTCATGTTCTTGAGGTTAC 0.537 107 152 --- --- --- --- PASS WDR90 197335 broad.mit.edu 37 16 705883 705883 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:705883G>A uc002cii.1 + 17 2014 c.1960G>A c.(1960-1962)GAG>AAG p.E654K WDR90_uc002cig.1_Missense_Mutation_p.E654K|WDR90_uc002cih.1_Missense_Mutation_p.E655K|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.E181K|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 654 WD 4. ovary(1) 1 Hepatocellular(780;0.0218) GGTGCTCCTGGAGGCAGGTGA 0.687 3 7 --- --- --- --- PASS C16orf42 115939 broad.mit.edu 37 16 1400989 1400989 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:1400989C>T uc002cll.2 - 3 413 c.345G>A c.(343-345)GCG>GCA p.A115A GNPTG_uc002clm.2_5'Flank NM_001001410 NP_001001410 Q9UJK0 TSR3_HUMAN hypothetical protein LOC115939 115 rRNA processing 0 Hepatocellular(780;0.0893) CCCCAGACTGCGCCACCAGCT 0.622 27 19 --- --- --- --- PASS CORO7 79585 broad.mit.edu 37 16 4415025 4415025 + Nonsense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:4415025G>A uc002cwh.3 - 11 997 c.877C>T c.(877-879)CAG>TAG p.Q293* CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Nonsense_Mutation_p.Q293*|CORO7_uc002cwg.3_Nonsense_Mutation_p.Q73*|CORO7_uc010uxh.1_Nonsense_Mutation_p.Q275*|CORO7_uc010uxi.1_Nonsense_Mutation_p.Q208*|CORO7_uc002cwi.1_Nonsense_Mutation_p.Q73*|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Nonsense_Mutation_p.Q73* NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 293 cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 GCCGGCTGCTGCGGGACCACC 0.642 5 5 --- --- --- --- PASS ZNF500 26048 broad.mit.edu 37 16 4815616 4815616 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:4815616C>A uc002cxp.1 - 2 611 c.364G>T c.(364-366)GTG>TTG p.V122L ZNF500_uc002cxo.1_5'UTR|ZNF500_uc010uxt.1_Missense_Mutation_p.V122L NM_021646 NP_067678 O60304 ZN500_HUMAN zinc finger protein 500 122 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 ACAAGGACCACGGCCTCCTCA 0.652 59 34 --- --- --- --- PASS SLC5A11 115584 broad.mit.edu 37 16 24902286 24902286 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:24902286G>T uc002dmu.2 + 9 993 c.761G>T c.(760-762)CGG>CTG p.R254L SLC5A11_uc002dms.2_Missense_Mutation_p.R190L|SLC5A11_uc010vcd.1_Missense_Mutation_p.R219L|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Missense_Mutation_p.R184L|SLC5A11_uc010bxt.2_Missense_Mutation_p.R190L NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 254 Extracellular (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) GGGCTGCCCCGGGAAGATGCC 0.577 95 76 --- --- --- --- PASS APOB48R 55911 broad.mit.edu 37 16 28507281 28507281 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:28507281G>A uc002dqb.1 + 2 929 c.919G>A c.(919-921)GGG>AGG p.G307R uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR NM_018690 NP_061160 Q0VD83 APOBR_HUMAN apolipoprotein B48 receptor 307 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle 0 AATCTCAGGCGGGGAGGAGGC 0.652 5 9 --- --- --- --- PASS APOB48R 55911 broad.mit.edu 37 16 28507282 28507282 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:28507282G>T uc002dqb.1 + 2 930 c.920G>T c.(919-921)GGG>GTG p.G307V uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR NM_018690 NP_061160 Q0VD83 APOBR_HUMAN apolipoprotein B48 receptor 307 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle 0 ATCTCAGGCGGGGAGGAGGCT 0.652 5 9 --- --- --- --- PASS ZNF423 23090 broad.mit.edu 37 16 49670164 49670164 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:49670164G>T uc002efs.2 - 5 3197 c.2899C>A c.(2899-2901)CGC>AGC p.R967S ZNF423_uc010vgn.1_Missense_Mutation_p.R850S NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 967 C2H2-type 23. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GAAGGGAAGCGCTCACCACAG 0.612 29 24 --- --- --- --- PASS NOD2 64127 broad.mit.edu 37 16 50745311 50745311 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:50745311C>A uc002egm.1 + 4 1594 c.1489C>A c.(1489-1491)CAG>AAG p.Q497K NOD2_uc010cbk.1_Missense_Mutation_p.Q470K|NOD2_uc002egl.1_Missense_Mutation_p.Q275K|NOD2_uc010cbl.1_Missense_Mutation_p.Q275K|NOD2_uc010cbm.1_Missense_Mutation_p.Q275K|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 497 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) CAAATGCCACCAGGAACTGTT 0.597 63 72 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51175911 51175911 + Silent SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:51175911T>A uc010vgs.1 - 2 253 c.222A>T c.(220-222)GTA>GTT p.V74V SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 74 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GATTTTCATTTACGATTAAAA 0.443 81 45 --- --- --- --- PASS IRX5 10265 broad.mit.edu 37 16 54966530 54966530 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:54966530G>A uc002ehv.2 + 2 370 c.370G>A c.(370-372)GCC>ACC p.A124T IRX5_uc010cca.1_Missense_Mutation_p.A176T|IRX5_uc002ehw.2_Missense_Mutation_p.A58T NM_005853 NP_005844 P78411 IRX5_HUMAN iroquois homeobox protein 5 124 Homeobox; TALE-type. response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding 0 CACAAGGGACGCCACGGCTAC 0.637 71 48 --- --- --- --- PASS GPR114 221188 broad.mit.edu 37 16 57608958 57608958 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:57608958C>A uc002elx.3 + 11 1525 c.1440C>A c.(1438-1440)TTC>TTA p.F480L GPR114_uc010vhr.1_Missense_Mutation_p.S441Y|GPR114_uc002ely.2_Missense_Mutation_p.F480L NM_153837 NP_722579 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 precursor 480 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1) 1 TTGGCGTCTTCCTGCTGCCCC 0.577 28 29 --- --- --- --- PASS CNGB1 1258 broad.mit.edu 37 16 58001179 58001179 + Nonsense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:58001179C>T uc002emt.2 - 2 77 c.12G>A c.(10-12)TGG>TGA p.W4* CNGB1_uc010cdh.2_Nonsense_Mutation_p.W4*|CNGB1_uc002emu.2_Nonsense_Mutation_p.W4* NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 4 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 CCCTCTGGACCCAGCCCAACA 0.597 23 33 --- --- --- --- PASS ZNF319 57567 broad.mit.edu 37 16 58031855 58031855 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:58031855C>A uc002emx.1 - 2 938 c.315G>T c.(313-315)CAG>CAT p.Q105H NM_020807 NP_065858 Q9P2F9 ZN319_HUMAN zinc finger protein 319 105 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACTGTGTGCACTGGAATGAGC 0.617 33 36 --- --- --- --- PASS CDH5 1003 broad.mit.edu 37 16 66432414 66432414 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:66432414T>A uc002eom.3 + 10 1697 c.1541T>A c.(1540-1542)TTC>TAC p.F514Y NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 514 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) AACGTGAAGTTCAAATTCATC 0.403 31 41 --- --- --- --- PASS PLEKHG4 25894 broad.mit.edu 37 16 67322176 67322176 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:67322176G>T uc002eso.3 + 19 5862 c.3327G>T c.(3325-3327)CTG>CTT p.L1109L PLEKHG4_uc002esp.3_Silent_p.L916L|PLEKHG4_uc002esq.3_Silent_p.L1109L|PLEKHG4_uc010cef.2_Silent_p.L1109L|PLEKHG4_uc002ess.3_Silent_p.L1109L|PLEKHG4_uc010ceg.2_Silent_p.L1028L NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G 1109 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GCTCTGTTCTGGGGTCCCTCA 0.622 94 76 --- --- --- --- PASS FUK 197258 broad.mit.edu 37 16 70501323 70501323 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:70501323A>T uc002eyy.2 + 7 589 c.531A>T c.(529-531)CCA>CCT p.P177P FUK_uc010vmb.1_3'UTR|FUK_uc010cft.2_Silent_p.P209P|FUK_uc002eyz.2_Intron NM_145059 NP_659496 Q8N0W3 FUK_HUMAN fucokinase 177 cytoplasm ATP binding|fucokinase activity ovary(1) 1 Ovarian(137;0.0694) TCGCCCTCCCAGGGAGCCCGG 0.667 13 10 --- --- --- --- PASS PMFBP1 83449 broad.mit.edu 37 16 72188115 72188115 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:72188115C>T uc002fcc.3 - 4 581 c.409G>A c.(409-411)GAT>AAT p.D137N PMFBP1_uc002fcd.2_Missense_Mutation_p.D137N|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_5'UTR NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 137 ovary(2) 2 Ovarian(137;0.179) TATACCTCATCTTCTTTCAGT 0.458 127 96 --- --- --- --- PASS ADAMTS18 170692 broad.mit.edu 37 16 77331277 77331277 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:77331277G>T uc002ffc.3 - 18 3129 c.2710C>A c.(2710-2712)CAA>AAA p.Q904K ADAMTS18_uc010chc.1_Missense_Mutation_p.Q492K|ADAMTS18_uc002ffe.1_Missense_Mutation_p.Q600K NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 904 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TGAGTATTTTGATCTCGCAAG 0.383 72 67 --- --- --- --- PASS ATMIN 23300 broad.mit.edu 37 16 81078197 81078197 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:81078197G>A uc002ffz.1 + 4 2112 c.2094G>A c.(2092-2094)GAG>GAA p.E698E ATMIN_uc002fga.2_Silent_p.E540E|ATMIN_uc010vnn.1_Silent_p.E469E|ATMIN_uc002fgb.1_Silent_p.E540E NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 698 response to DNA damage stimulus nucleus zinc ion binding 0 TAGGCCTTGAGATGTTTGACA 0.453 144 117 --- --- --- --- PASS OSGIN1 29948 broad.mit.edu 37 16 83999007 83999007 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:83999007A>G uc002fha.2 + 7 1461 c.1078A>G c.(1078-1080)AGG>GGG p.R360G OSGIN1_uc002fhb.2_Missense_Mutation_p.R277G|OSGIN1_uc002fhc.2_Missense_Mutation_p.R277G NM_013370 NP_037502 Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 360 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity 0 GGCCGCCACAAGGGTGGGTGC 0.706 27 15 --- --- --- --- PASS NECAB2 54550 broad.mit.edu 37 16 84014711 84014711 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:84014711G>T uc002fhd.2 + 5 455 c.438G>T c.(436-438)AAG>AAT p.K146N NECAB2_uc002fhe.2_Missense_Mutation_p.K63N NM_019065 NP_061938 Q7Z6G3 NECA2_HUMAN neuronal calcium-binding protein 2 146 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding ovary(2) 2 CTGTCCTGAAGGCCATGGGTT 0.557 97 78 --- --- --- --- PASS NECAB2 54550 broad.mit.edu 37 16 84027924 84027924 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:84027924C>A uc002fhd.2 + 7 631 c.614C>A c.(613-615)CCC>CAC p.P205H NECAB2_uc002fhe.2_Missense_Mutation_p.P122H NM_019065 NP_061938 Q7Z6G3 NECA2_HUMAN neuronal calcium-binding protein 2 205 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding ovary(2) 2 CACATCAAACCCAGCCACAGC 0.572 19 28 --- --- --- --- PASS FOXF1 2294 broad.mit.edu 37 16 86544788 86544788 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:86544788G>A uc002fjl.2 + 1 656 c.613G>A c.(613-615)GGC>AGC p.G205S uc002fjk.1_5'Flank NM_001451 NP_001442 Q12946 FOXF1_HUMAN forkhead box F1 205 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 0 CAACGTGGACGGCATGGCCCT 0.607 2 2 --- --- --- --- PASS FOXC2 2303 broad.mit.edu 37 16 86602427 86602427 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:86602427T>C uc002fjq.2 + 1 1571 c.1486T>C c.(1486-1488)TAC>CAC p.Y496H NM_005251 NP_005242 Q99958 FOXC2_HUMAN forkhead box C2 496 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding 0 CCCCTACTCCTACGACTGCAC 0.657 Late-onset_Hereditary_Lymphedema 20 22 --- --- --- --- PASS MYO1C 4641 broad.mit.edu 37 17 1382019 1382019 + Missense_Mutation SNP G A A rs139543770 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:1382019G>A uc002fsp.2 - 10 1323 c.1103C>T c.(1102-1104)CCG>CTG p.P368L MYO1C_uc002fsn.2_Missense_Mutation_p.P349L|MYO1C_uc002fso.2_Missense_Mutation_p.P333L|MYO1C_uc010vqj.1_Missense_Mutation_p.P333L|MYO1C_uc010vqk.1_Missense_Mutation_p.P344L NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 368 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CAGGTTCAGCGGGCTCAGGAG 0.632 48 42 --- --- --- --- PASS OR1A1 8383 broad.mit.edu 37 17 3119405 3119405 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:3119405C>A uc010vrc.1 + 1 491 c.491C>A c.(490-492)GCT>GAT p.A164D NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, 164 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTGCTCACAGCTAGTCTGTCC 0.488 62 40 --- --- --- --- PASS ZMYND15 84225 broad.mit.edu 37 17 4644069 4644069 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:4644069G>T uc002fyt.2 + 2 265 c.226G>T c.(226-228)GAA>TAA p.E76* CXCL16_uc002fyr.3_5'Flank|CXCL16_uc002fys.3_5'Flank|ZMYND15_uc002fyv.2_Nonsense_Mutation_p.E76*|ZMYND15_uc002fyu.2_Nonsense_Mutation_p.E76* NM_032265 NP_115641 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 isoform 2 76 zinc ion binding 0 GCAAGGGGCAGAACCAGGTCC 0.637 21 14 --- --- --- --- PASS WSCD1 23302 broad.mit.edu 37 17 6021442 6021442 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:6021442G>T uc010cli.2 + 8 1688 c.1309G>T c.(1309-1311)GCA>TCA p.A437S WSCD1_uc002gcn.2_Missense_Mutation_p.A437S|WSCD1_uc002gco.2_Missense_Mutation_p.A437S|WSCD1_uc010clj.2_Missense_Mutation_p.A128S NM_015253 NP_056068 Q658N2 WSCD1_HUMAN WSC domain containing 1 437 integral to membrane sulfotransferase activity 0 GTCCCTGGTGGCAGAATTCAA 0.542 33 23 --- --- --- --- PASS PITPNM3 83394 broad.mit.edu 37 17 6373627 6373627 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:6373627C>G uc002gdd.3 - 13 1877 c.1726G>C c.(1726-1728)GCC>CCC p.A576P PITPNM3_uc010cln.2_Missense_Mutation_p.A540P|PITPNM3_uc010clm.2_Missense_Mutation_p.A59P|PITPNM3_uc002gdc.3_Missense_Mutation_p.A167P NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 576 DDHD. phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) CAGTAACTGGCGTGGAAGAGG 0.647 16 11 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578440 7578440 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:7578440T>C uc002gim.2 - 5 684 c.490A>G c.(490-492)AAG>GAG p.K164E TP53_uc002gig.1_Missense_Mutation_p.K164E|TP53_uc002gih.2_Missense_Mutation_p.K164E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.K32E|TP53_uc010cng.1_Missense_Mutation_p.K32E|TP53_uc002gii.1_Missense_Mutation_p.K32E|TP53_uc010cnh.1_Missense_Mutation_p.K164E|TP53_uc010cni.1_Missense_Mutation_p.K164E|TP53_uc002gij.2_Missense_Mutation_p.K164E|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K71E|TP53_uc002gio.2_Missense_Mutation_p.K32E|TP53_uc010vug.1_Missense_Mutation_p.K125E NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 164 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). K -> E (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.K164E(12)|p.K164*(9)|p.0?(7)|p.K164N(6)|p.K164M(4)|p.K164K(2)|p.K164fs*5(2)|p.K164Q(2)|p.K164fs*6(2)|p.K164fs*3(2)|p.K164T(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.K164_Q165insXXX(1)|p.K164fs*17(1)|p.K164R(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGTGACTGCTTGTAGATGGCC 0.627 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 36 34 --- --- --- --- PASS GUCY2D 3000 broad.mit.edu 37 17 7909797 7909797 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:7909797C>G uc002gjt.2 + 4 1217 c.1143C>G c.(1141-1143)CAC>CAG p.H381Q NM_000180 NP_000171 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 381 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) TGGCCCGCCACATCCGGGATG 0.677 20 13 --- --- --- --- PASS ALOX12B 242 broad.mit.edu 37 17 7979605 7979605 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:7979605G>T uc002gjy.1 - 11 1681 c.1420C>A c.(1420-1422)CTC>ATC p.L474I NM_001139 NP_001130 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 474 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity 0 TCATAGGTGAGCTCCGACAGA 0.602 Multiple Myeloma(8;0.094) 16 23 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10405209 10405209 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:10405209T>A uc002gmo.2 - 25 3225 c.3131A>T c.(3130-3132)CAA>CTA p.Q1044L uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1044 Potential. 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 TTTCTTTTCTTGTTCCAAAGA 0.333 26 24 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10417424 10417424 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:10417424C>T uc002gmo.2 - 7 645 c.551G>A c.(550-552)GGG>GAG p.G184E uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 184 Myosin head-like.|ATP (Potential). 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 CACAGTCTTCCCTGCGCCAGA 0.433 43 45 --- --- --- --- PASS MYH3 4621 broad.mit.edu 37 17 10541398 10541398 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:10541398C>A uc002gmq.1 - 26 3768 c.3691G>T c.(3691-3693)GAC>TAC p.D1231Y NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1231 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CTGGAGAGGTCATCGATCTCC 0.562 70 66 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11556254 11556254 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:11556254G>T uc002gne.2 + 14 2598 c.2530G>T c.(2530-2532)GAT>TAT p.D844Y DNAH9_uc010coo.2_Missense_Mutation_p.D138Y NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 844 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) TGATCGGCATGATCGAATGGA 0.418 50 52 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11572399 11572399 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:11572399C>A uc002gne.2 + 16 2818 c.2750C>A c.(2749-2751)ACC>AAC p.T917N DNAH9_uc010coo.2_Missense_Mutation_p.T211N NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 917 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) GCAGGACTTACCCCAATATTT 0.428 89 66 --- --- --- --- PASS TNFRSF13B 23495 broad.mit.edu 37 17 16842928 16842928 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:16842928G>T uc002gqs.1 - 5 828 c.815C>A c.(814-816)CCA>CAA p.P272Q TNFRSF13B_uc010vwt.1_Intron|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.P226Q NM_012452 NP_036584 O14836 TR13B_HUMAN tumor necrosis factor receptor 13B 272 Cytoplasmic (Potential). cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity kidney(2) 2 TGGGATGTGTGGGCAAGGCTG 0.587 IgA_Deficiency_Selective 29 27 --- --- --- --- PASS RAI1 10743 broad.mit.edu 37 17 17697397 17697397 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:17697397A>T uc002grm.2 + 3 1604 c.1135A>T c.(1135-1137)ACC>TCC p.T379S RAI1_uc002grn.1_Missense_Mutation_p.T379S NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 379 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) GCCGCTCAGCACCGGGGCCTT 0.652 67 45 --- --- --- --- PASS RAI1 10743 broad.mit.edu 37 17 17698714 17698714 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:17698714G>T uc002grm.2 + 3 2921 c.2452G>T c.(2452-2454)GTG>TTG p.V818L RAI1_uc002grn.1_Missense_Mutation_p.V818L NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 818 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) GGTGGGTGGGGTGAAGGAGGA 0.692 12 9 --- --- --- --- PASS TBC1D28 254272 broad.mit.edu 37 17 18541193 18541193 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:18541193G>T uc002gud.2 - 9 893 c.481C>A c.(481-483)CAA>AAA p.Q161K NM_001039397 NP_001034486 Q2M2D7 TBC28_HUMAN TBC1 domain family, member 28 161 Rab-GAP TBC. intracellular Rab GTPase activator activity ovary(1) 1 CCGAATCTTTGTATGAACATC 0.542 29 44 --- --- --- --- PASS LGALS9 3965 broad.mit.edu 37 17 25967675 25967675 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:25967675G>T uc002gzp.2 + 3 327 c.209G>T c.(208-210)GGG>GTG p.G70V LGALS9_uc002gzq.2_Missense_Mutation_p.G70V|LGALS9_uc002gzr.2_Missense_Mutation_p.G13V|LGALS9_uc010waa.1_Missense_Mutation_p.G13V|LGALS9_uc002gzs.2_Missense_Mutation_p.G70V NM_009587 NP_033665 O00182 LEG9_HUMAN galectin-9 isoform long 70 Galectin 1. positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity 0 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) GAAGATGGAGGGTACGTGGTG 0.537 35 130 --- --- --- --- PASS SPAG5 10615 broad.mit.edu 37 17 26920005 26920005 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:26920005G>A uc002hbq.2 - 3 349 c.257C>T c.(256-258)TCC>TTC p.S86F SGK494_uc010waq.1_Intron NM_006461 NP_006452 Q96R06 SPAG5_HUMAN sperm associated antigen 5 86 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding central_nervous_system(1) 1 Lung NSC(42;0.00431) CCACTTTGAGGAATGACTGAA 0.328 47 130 --- --- --- --- PASS KIAA0100 9703 broad.mit.edu 37 17 26960074 26960074 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:26960074C>A uc002hbu.2 - 20 3790 c.3691G>T c.(3691-3693)GCC>TCC p.A1231S NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 1231 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) AACTCTGGGGCCCGCAGAGTG 0.587 19 64 --- --- --- --- PASS MYO18A 399687 broad.mit.edu 37 17 27425375 27425375 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:27425375C>G uc002hdt.1 - 24 4027 c.3869G>C c.(3868-3870)CGG>CCG p.R1290P MYO18A_uc010wbc.1_Missense_Mutation_p.R832P|MYO18A_uc002hds.2_Missense_Mutation_p.R832P|MYO18A_uc010csa.1_Missense_Mutation_p.R1290P|MYO18A_uc002hdu.1_Missense_Mutation_p.R1290P|MYO18A_uc010wbd.1_Missense_Mutation_p.R959P NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 1290 Potential. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GTCACTCACCCGGCTCTCCAG 0.652 9 24 --- --- --- --- PASS SLC6A4 6532 broad.mit.edu 37 17 28543169 28543169 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:28543169G>T uc002hey.3 - 7 1447 c.903C>A c.(901-903)ACC>ACA p.T301T NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 301 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) CTCCAGGGAGGGTGGCACCCC 0.517 30 70 --- --- --- --- PASS BLMH 642 broad.mit.edu 37 17 28614917 28614917 + Nonsense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:28614917T>A uc002hez.1 - 4 607 c.370A>T c.(370-372)AGA>TGA p.R124* BLMH_uc010wbn.1_Nonsense_Mutation_p.R37* NM_000386 NP_000377 Q13867 BLMH_HUMAN bleomycin hydrolase 124 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding ovary(1) 1 GGCTCCTTTCTCTGGGCTGTG 0.383 37 52 --- --- --- --- PASS TBC1D29 26083 broad.mit.edu 37 17 28889927 28889927 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:28889927C>T uc002hfh.2 + 4 368 c.219C>T c.(217-219)GCC>GCT p.A73A TBC1D29_uc002hfi.2_Intron|uc002hfj.1_5'Flank NM_015594 NP_056409 Q9UFV1 TBC29_HUMAN TBC1 domain family, member 29 73 intracellular Rab GTPase activator activity 0 Myeloproliferative disorder(56;0.0255) GGGGACCTGCCACCCCCAGGT 0.453 22 96 --- --- --- --- PASS ADAP2 55803 broad.mit.edu 37 17 29281555 29281555 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:29281555C>G uc002hfx.2 + 9 1143 c.864C>G c.(862-864)CTC>CTG p.L288L ADAP2_uc010csk.2_Silent_p.L294L|ADAP2_uc002hfy.2_Silent_p.L287L|ADAP2_uc010csl.2_RNA NM_018404 NP_060874 Q9NPF8 ADAP2_HUMAN centaurin-alpha 2 protein 288 PH 2. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) ovary(1) 1 GGAGGCTGCTCTATTACAAGA 0.512 61 111 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29685528 29685528 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:29685528C>A uc002hgg.2 + 55 8334 c.8001C>A c.(7999-8001)ACC>ACA p.T2667T NF1_uc002hgh.2_Silent_p.T2646T|NF1_uc010cso.2_Silent_p.T855T|NF1_uc010wbt.1_Silent_p.T145T|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2667 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGATCAACACCCTGTTATCAT 0.348 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 15 51 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29685530 29685530 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:29685530T>A uc002hgg.2 + 55 8336 c.8003T>A c.(8002-8004)CTG>CAG p.L2668Q NF1_uc002hgh.2_Missense_Mutation_p.L2647Q|NF1_uc010cso.2_Missense_Mutation_p.L856Q|NF1_uc010wbt.1_Missense_Mutation_p.L146Q|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2668 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATCAACACCCTGTTATCATTG 0.348 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 15 50 --- --- --- --- PASS LRRC37B 114659 broad.mit.edu 37 17 30348860 30348860 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:30348860T>C uc002hgu.2 + 1 706 c.695T>C c.(694-696)CTG>CCG p.L232P LRRC37B_uc010wbx.1_Missense_Mutation_p.L150P|LRRC37B_uc010csu.2_Missense_Mutation_p.L232P NM_052888 NP_443120 Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B precursor 232 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) ATGGACACACTGTATCCCGGC 0.502 39 118 --- --- --- --- PASS RHBDL3 162494 broad.mit.edu 37 17 30632392 30632392 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:30632392G>T uc002hhe.1 + 7 828 c.814G>T c.(814-816)GCT>TCT p.A272S RHBDL3_uc010csw.1_Missense_Mutation_p.A264S|RHBDL3_uc010csx.1_Intron|RHBDL3_uc010csy.1_Missense_Mutation_p.A174S|RHBDL3_uc002hhf.1_Missense_Mutation_p.A174S NM_138328 NP_612201 P58872 RHBL3_HUMAN rhomboid protease 3 272 proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) TGACATGACCGCTCCAGTCGT 0.577 19 91 --- --- --- --- PASS CDK5R1 8851 broad.mit.edu 37 17 30815061 30815061 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:30815061G>T uc002hhn.2 + 2 644 c.423G>T c.(421-423)CGG>CGT p.R141R CDK5R1_uc010wca.1_Silent_p.R141R|CDK5R1_uc010ctc.2_5'UTR NM_003885 NP_003876 Q15078 CD5R1_HUMAN cyclin-dependent kinase 5, regulatory subunit 1 141 axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane cadherin binding|calcium ion binding|protein kinase binding ovary(1) 1 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.0938) CGCCCAAACGGGTCATCGTCC 0.687 14 38 --- --- --- --- PASS CCL14 6358 broad.mit.edu 37 17 34311434 34311434 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:34311434G>C uc010wcr.1 - 2 213 c.134C>G c.(133-135)CCG>CGG p.P45R CCL16_uc002hkl.2_5'Flank|CCL16_uc002hkm.2_5'Flank|CCL14_uc010wcq.1_Missense_Mutation_p.P61R|CCL14_uc002hkn.2_RNA|CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA|uc002hkq.2_5'Flank NM_032963 NP_116739 Q16627 CCL14_HUMAN chemokine (C-C motif) ligand 14 isoform 1 45 cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation extracellular space chemokine activity|signal transducer activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCGCTGACGCGGGATCTTGTA 0.557 22 57 --- --- --- --- PASS MYO19 80179 broad.mit.edu 37 17 34858937 34858937 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:34858937C>T uc010wcy.1 - 22 3072 c.2080G>A c.(2080-2082)GAA>AAA p.E694K MYO19_uc002hmw.2_Missense_Mutation_p.E494K|MYO19_uc010cuu.2_RNA NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN myosin XIX isoform 2 694 mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity ovary(1) 1 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TCCCACTCACCAGGGAGCCCT 0.318 48 118 --- --- --- --- PASS DHRS11 79154 broad.mit.edu 37 17 34951410 34951410 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:34951410G>T uc002hnd.2 + 2 371 c.157G>T c.(157-159)GCT>TCT p.A53S NM_024308 NP_077284 Q6UWP2 DHR11_HUMAN short-chain dehydrogenase/reductase precursor 53 extracellular region binding|oxidoreductase activity 0 GGAGCTGGCTGCTGAATGTAA 0.562 11 42 --- --- --- --- PASS STAC2 342667 broad.mit.edu 37 17 37369250 37369250 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:37369250G>T uc002hrs.2 - 10 1348 c.1129C>A c.(1129-1131)CAG>AAG p.Q377K STAC2_uc010cvt.2_Missense_Mutation_p.Q235K NM_198993 NP_945344 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 377 intracellular signal transduction metal ion binding pancreas(1) 1 GCACTCACCTGGTTCTCCTTG 0.622 32 84 --- --- --- --- PASS CDK12 51755 broad.mit.edu 37 17 37687206 37687206 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:37687206G>T uc010cvv.2 + 14 4696 c.4110G>T c.(4108-4110)CTG>CTT p.L1370L CDK12_uc002hrw.3_Silent_p.L1361L NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 1370 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 TCCAGACCCTGGTGAAGAACA 0.552 TCGA Ovarian(9;0.13) 15 40 --- --- --- --- PASS NEUROD2 4761 broad.mit.edu 37 17 37762558 37762558 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:37762558C>A uc002hry.2 - 2 495 c.295G>T c.(295-297)GAG>TAG p.E99* NM_006160 NP_006151 Q15784 NDF2_HUMAN neurogenic differentiation 2 99 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) TTGGGCCGCTCGCCCTCCGCC 0.512 3 13 --- --- --- --- PASS KRTAP9-8 83901 broad.mit.edu 37 17 39394593 39394593 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:39394593C>A uc002hwh.3 + 1 324 c.290C>A c.(289-291)GCA>GAA p.A97E KRTAP9-9_uc010wfq.1_Intron NM_031963 NP_114169 Q9BYQ0 KRA98_HUMAN keratin associated protein 9.8 97 15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI]. keratin filament ovary(1) 1 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) AGCTCCTGTGCACCTGTGTAC 0.622 31 66 --- --- --- --- PASS HAP1 9001 broad.mit.edu 37 17 39888337 39888337 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:39888337C>T uc002hxm.1 - 4 760 c.748G>A c.(748-750)GAT>AAT p.D250N JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.D250N|HAP1_uc002hxo.1_Missense_Mutation_p.D258N|HAP1_uc002hxp.1_Missense_Mutation_p.D250N NM_177977 NP_817084 P54257 HAP1_HUMAN huntingtin-associated protein 1 isoform 2 250 HAP1 N-terminal. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding ovary(2) 2 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) AGGAGCTCATCCCGCAAGTTC 0.368 26 51 --- --- --- --- PASS AOC2 314 broad.mit.edu 37 17 40997010 40997010 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:40997010A>G uc002ibu.2 + 1 402 c.367A>G c.(367-369)ATC>GTC p.I123V AOC2_uc002ibt.2_Missense_Mutation_p.I123V NM_009590 NP_033720 O75106 AOC2_HUMAN amine oxidase, copper containing 2 isoform b 123 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity ovary(2) 2 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) GGCACTGGCCATCGTCCTCTT 0.657 8 42 --- --- --- --- PASS AOC3 8639 broad.mit.edu 37 17 41006721 41006721 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:41006721C>A uc002ibv.2 + 2 2017 c.1857C>A c.(1855-1857)AGC>AGA p.S619R NM_003734 NP_003725 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 precursor 619 Extracellular (Potential). amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity central_nervous_system(2)|ovary(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) CCCAAAACAGCTCCATGGCGA 0.627 7 38 --- --- --- --- PASS CD300LG 146894 broad.mit.edu 37 17 41931263 41931263 + Nonsense_Mutation SNP C A A rs149330626 by1000genomes TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:41931263C>A uc002iem.2 + 4 611 c.570C>A c.(568-570)TAC>TAA p.Y190* CD300LG_uc002iel.1_Intron|CD300LG_uc010czk.2_Nonsense_Mutation_p.Y190*|CD300LG_uc010wil.1_Nonsense_Mutation_p.Y156*|CD300LG_uc010czl.2_Intron NM_145273 NP_660316 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g precursor 190 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity 0 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) CTTCCCAGTACGGGCACGAAA 0.632 23 89 --- --- --- --- PASS SLC4A1 6521 broad.mit.edu 37 17 42328875 42328875 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:42328875G>A uc002igf.3 - 18 2542 c.2393C>T c.(2392-2394)ACG>ATG p.T798M NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 798 Helical; (Potential).|Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GCTGAGCGACGTGACCCCCAT 0.597 20 74 --- --- --- --- PASS ITGB3 3690 broad.mit.edu 37 17 45369703 45369703 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:45369703C>T uc002ilj.2 + 10 1479 c.1459C>T c.(1459-1461)CGT>TGT p.R487C ITGB3_uc010wkr.1_RNA NM_000212 NP_000203 P05106 ITB3_HUMAN integrin beta chain, beta 3 precursor 487 I.|Extracellular (Potential).|Cysteine-rich tandem repeats. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding central_nervous_system(5)|large_intestine(1) 6 Abciximab(DB00054)|Tirofiban(DB00775) TGGGGTATGCCGTTGTGGGCC 0.602 31 77 --- --- --- --- PASS PHB 5245 broad.mit.edu 37 17 47484217 47484217 + Splice_Site SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:47484217C>G uc002iox.1 - 6 584 c.511_splice c.e6-1 p.T171_splice NM_002634 NP_002625 P35232 PHB_HUMAN prohibitin cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis integral to plasma membrane|mitochondrial inner membrane|nucleoplasm histone deacetylase binding|transcription regulatory region DNA binding 0 all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18) Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) TCAGATGTGTCTAAGGGGAGA 0.562 15 31 --- --- --- --- PASS EPX 8288 broad.mit.edu 37 17 56276470 56276470 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:56276470G>T uc002ivq.2 + 8 1276 c.1190G>T c.(1189-1191)CGG>CTG p.R397L NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 397 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 GAGCACAACCGGCTGGCCACC 0.562 16 45 --- --- --- --- PASS TRIM37 4591 broad.mit.edu 37 17 57094780 57094780 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:57094780T>C uc002iwy.3 - 20 2707 c.2263A>G c.(2263-2265)AAT>GAT p.N755D TRIM37_uc002iwz.3_Missense_Mutation_p.N755D|TRIM37_uc002ixa.3_Missense_Mutation_p.N633D|TRIM37_uc010woc.1_Missense_Mutation_p.N721D NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 755 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) CTCTTCTTATTTGTGGCTGCA 0.423 Mulibrey_Nanism 24 77 --- --- --- --- PASS APPBP2 10513 broad.mit.edu 37 17 58556611 58556611 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:58556611C>G uc002iys.1 - 4 689 c.401G>C c.(400-402)GGC>GCC p.G134A APPBP2_uc010ddl.1_Missense_Mutation_p.G63A NM_006380 NP_006371 Q92624 APBP2_HUMAN amyloid beta precursor protein-binding protein 134 TPR 2. intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) ACTGTACCAGCCTGCATCTGA 0.383 18 47 --- --- --- --- PASS PPM1D 8493 broad.mit.edu 37 17 58711239 58711239 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:58711239C>T uc002iyt.1 + 3 949 c.727C>T c.(727-729)CGT>TGT p.R243C PPM1D_uc010ddm.1_RNA NM_003620 NP_003611 O15297 PPM1D_HUMAN protein phosphatase 1D 243 PP2C-like. negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) TGGGGTGAATCGTGTAGTTTG 0.368 14 52 --- --- --- --- PASS EFCAB3 146779 broad.mit.edu 37 17 60483852 60483852 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:60483852G>A uc002izu.1 + 7 578 c.500G>A c.(499-501)AGA>AAA p.R167K EFCAB3_uc010wpc.1_Missense_Mutation_p.R219K NM_173503 NP_775774 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 isoform b 167 calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) TATTTCCAAAGAAAATTCCAG 0.368 13 36 --- --- --- --- PASS KCNH6 81033 broad.mit.edu 37 17 61611394 61611394 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:61611394C>A uc002jay.2 + 5 903 c.823C>A c.(823-825)CCC>ACC p.P275T KCNH6_uc002jax.1_Missense_Mutation_p.P275T|KCNH6_uc010wpl.1_Missense_Mutation_p.P152T|KCNH6_uc010wpm.1_Missense_Mutation_p.P275T|KCNH6_uc002jaz.1_Missense_Mutation_p.P275T NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 275 Helical; Name=Segment S1; (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) TGTCTTCACGCCCTACTCAGC 0.622 40 100 --- --- --- --- PASS KCNH6 81033 broad.mit.edu 37 17 61611395 61611395 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:61611395C>A uc002jay.2 + 5 904 c.824C>A c.(823-825)CCC>CAC p.P275H KCNH6_uc002jax.1_Missense_Mutation_p.P275H|KCNH6_uc010wpl.1_Missense_Mutation_p.P152H|KCNH6_uc010wpm.1_Missense_Mutation_p.P275H|KCNH6_uc002jaz.1_Missense_Mutation_p.P275H NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 275 Helical; Name=Segment S1; (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) GTCTTCACGCCCTACTCAGCC 0.622 40 98 --- --- --- --- PASS CSH2 1443 broad.mit.edu 37 17 61950631 61950631 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:61950631C>A uc002jch.2 - 2 194 c.79G>T c.(79-81)GTC>TTC p.V27F CSH2_uc002jcg.2_Missense_Mutation_p.V27F|CSH2_uc002jci.2_Missense_Mutation_p.V27F|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Missense_Mutation_p.V27F NM_020991 NP_066271 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 isoform 1 27 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding 0 ACGGTTTGGACGGCACCAGCC 0.607 24 123 --- --- --- --- PASS GH2 2689 broad.mit.edu 37 17 61958388 61958388 + Splice_Site SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:61958388C>A uc002jco.1 - 3 353 c.291_splice c.e3+1 p.S97_splice GH2_uc002jcj.2_Splice_Site_p.S97_splice|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Splice_Site_p.S97_splice|GH2_uc002jcm.1_Splice_Site_p.S97_splice|GH2_uc002jcn.1_Splice_Site_p.S82_splice NM_002059 NP_002050 P01242 SOM2_HUMAN growth hormone 2 isoform 1 extracellular region hormone activity upper_aerodigestive_tract(2)|pancreas(1) 3 CATCCACTCACAGATTTCTGC 0.577 81 250 --- --- --- --- PASS SCN4A 6329 broad.mit.edu 37 17 62050198 62050198 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:62050198C>G uc002jds.1 - 1 81 c.4G>C c.(4-6)GCC>CCC p.A2P NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 2 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) GATGGTCTGGCCATCCTCGCA 0.701 7 16 --- --- --- --- PASS SCN4A 6329 broad.mit.edu 37 17 62050199 62050199 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:62050199C>A uc002jds.1 - 1 80 c.3G>T c.(1-3)ATG>ATT p.M1I NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) ATGGTCTGGCCATCCTCGCAT 0.706 7 16 --- --- --- --- PASS ABCA8 10351 broad.mit.edu 37 17 66913532 66913532 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:66913532T>A uc002jhp.2 - 15 2167 c.1988A>T c.(1987-1989)AAG>ATG p.K663M ABCA8_uc002jhq.2_Missense_Mutation_p.K703M|ABCA8_uc010wqq.1_Missense_Mutation_p.K703M|ABCA8_uc010wqr.1_Missense_Mutation_p.K642M|ABCA8_uc002jhr.2_Missense_Mutation_p.K703M NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 663 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) CCATTTCTTCTTTAGAAACAA 0.393 55 162 --- --- --- --- PASS ABCA9 10350 broad.mit.edu 37 17 66982353 66982353 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:66982353G>T uc002jhu.2 - 32 4303 c.4160C>A c.(4159-4161)GCT>GAT p.A1387D ABCA9_uc010dez.2_Missense_Mutation_p.A1349D NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1387 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) TTTCACGGCAGCGTACACCTC 0.612 43 101 --- --- --- --- PASS ABCA9 10350 broad.mit.edu 37 17 66982354 66982354 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:66982354C>T uc002jhu.2 - 32 4302 c.4159G>A c.(4159-4161)GCT>ACT p.A1387T ABCA9_uc010dez.2_Missense_Mutation_p.A1349T NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1387 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) TTCACGGCAGCGTACACCTCC 0.612 42 97 --- --- --- --- PASS ABCA9 10350 broad.mit.edu 37 17 67012471 67012471 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:67012471C>G uc002jhu.2 - 22 3105 c.2962G>C c.(2962-2964)GAT>CAT p.D988H ABCA9_uc010dez.2_Missense_Mutation_p.D988H NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 988 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) CTAATGACATCCAGGAGGACA 0.343 35 110 --- --- --- --- PASS KCNJ2 3759 broad.mit.edu 37 17 68171898 68171898 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:68171898G>A uc010dfg.2 + 2 1119 c.718G>A c.(718-720)GGG>AGG p.G240R KCNJ2_uc002jir.2_Missense_Mutation_p.G240R NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 240 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) TACTTCTGAAGGGGAGTATAT 0.448 32 79 --- --- --- --- PASS ACOX1 51 broad.mit.edu 37 17 73949611 73949611 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:73949611C>A uc002jqf.2 - 7 1155 c.865G>T c.(865-867)GCT>TCT p.A289S ACOX1_uc010wsq.1_Missense_Mutation_p.A251S|ACOX1_uc002jqe.2_Missense_Mutation_p.A289S|ACOX1_uc010wsr.1_Missense_Mutation_p.A221S NM_007292 NP_009223 Q15067 ACOX1_HUMAN acyl-Coenzyme A oxidase 1 isoform b 289 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding ovary(1) 1 GCCCGAGCAGCTTCTCCCACA 0.537 15 66 --- --- --- --- PASS TMC6 11322 broad.mit.edu 37 17 76121327 76121327 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:76121327C>A uc002juj.1 - 5 574 c.448G>T c.(448-450)GTG>TTG p.V150L TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_5'UTR|TMC6_uc002juk.2_Missense_Mutation_p.V150L|TMC6_uc010dhg.1_Missense_Mutation_p.V150L|TMC6_uc002jul.1_Missense_Mutation_p.V150L|TMC6_uc002jum.3_5'UTR|TMC6_uc002jun.3_Missense_Mutation_p.V150L|TMC6_uc002juo.2_5'UTR|TMC6_uc010wtp.1_5'UTR NM_007267 NP_009198 Q7Z403 TMC6_HUMAN transmembrane channel-like 6 150 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) AGCTCCTTCACCAGGAGGCTC 0.667 Epidermodysplasia_Verruciformis_Familial_Clustering_of 2 1 --- --- --- --- PASS C1QTNF1 114897 broad.mit.edu 37 17 77043891 77043891 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:77043891G>T uc002jwp.2 + 4 907 c.567G>T c.(565-567)GTG>GTT p.V189V C1QTNF1_uc002jwq.2_Silent_p.V107V|C1QTNF1_uc002jwr.3_Silent_p.V199V|C1QTNF1_uc002jws.2_Silent_p.V189V|C1QTNF1_uc002jwt.2_Silent_p.V287V NM_030968 NP_112230 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 189 C1q. collagen ovary(1) 1 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) ACTGCTACGTGCCCGGCCTCT 0.532 32 93 --- --- --- --- PASS RNF213 57674 broad.mit.edu 37 17 78318559 78318559 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:78318559G>C uc002jyh.1 + 4 866 c.643G>C c.(643-645)GAG>CAG p.E215Q NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GATAGACATGGAGCTGAGTGC 0.488 64 135 --- --- --- --- PASS RNF213 57674 broad.mit.edu 37 17 78321522 78321522 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:78321522G>A uc002jyh.1 + 4 3829 c.3606G>A c.(3604-3606)GTG>GTA p.V1202V NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AGAAGTACGTGGACCTCGGTC 0.552 34 75 --- --- --- --- PASS SLC38A10 124565 broad.mit.edu 37 17 79250894 79250894 + Silent SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:79250894T>A uc002jzz.1 - 7 1041 c.666A>T c.(664-666)TCA>TCT p.S222S SLC38A10_uc002jzy.1_Silent_p.S140S|SLC38A10_uc002kab.2_Silent_p.S222S NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 222 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TGGTTTTCACTGACGGCTCAT 0.577 22 50 --- --- --- --- PASS SLC25A10 1468 broad.mit.edu 37 17 79671382 79671382 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:79671382C>T uc010wut.1 + 2 308 c.183C>T c.(181-183)CCC>CCT p.P61P MRPL12_uc002kbh.1_Silent_p.P61P NM_012140 NP_036272 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; Error:Variant_position_missing_in_Q9UBX3_after_alignment gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding 0 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) AGGAGTACCCCCCCAAGATAC 0.597 6 34 --- --- --- --- PASS NOTUM 147111 broad.mit.edu 37 17 79911102 79911102 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:79911102C>T uc010wvg.1 - 11 1498 c.1226G>A c.(1225-1227)CGA>CAA p.R409Q NM_178493 NP_848588 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog precursor 409 extracellular region hydrolase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GTGCAGTGCTCGGGGCAGCGA 0.657 3 13 --- --- --- --- PASS FASN 2194 broad.mit.edu 37 17 80040803 80040803 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:80040803G>A uc002kdu.2 - 33 5871 c.5754C>T c.(5752-5754)TCC>TCT p.S1918S FASN_uc002kdv.1_5'Flank NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 1918 Beta-ketoacyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) TCCGGATCCCGGAGCGAGAAG 0.652 13 45 --- --- --- --- PASS CCDC57 284001 broad.mit.edu 37 17 80136436 80136436 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:80136436C>A uc002kdz.1 - 11 1775 c.1420G>T c.(1420-1422)GAG>TAG p.E474* CCDC57_uc002kdx.1_Nonsense_Mutation_p.E474*|CCDC57_uc010dik.1_5'UTR NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 474 Potential. ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) AGCACCACCTCCTGCTCCTGT 0.642 9 26 --- --- --- --- PASS CCDC57 284001 broad.mit.edu 37 17 80136437 80136437 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:80136437C>A uc002kdz.1 - 11 1774 c.1419G>T c.(1417-1419)CAG>CAT p.Q473H CCDC57_uc002kdx.1_Missense_Mutation_p.Q473H|CCDC57_uc010dik.1_Translation_Start_Site NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 473 Potential. ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) GCACCACCTCCTGCTCCTGTA 0.642 7 27 --- --- --- --- PASS B3GNTL1 146712 broad.mit.edu 37 17 80963008 80963008 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:80963008C>A uc002kgg.1 - 6 501 c.487G>T c.(487-489)GAG>TAG p.E163* B3GNTL1_uc002kgf.1_Nonsense_Mutation_p.E52*|B3GNTL1_uc002kge.1_RNA NM_001009905 NP_001009905 Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal 163 transferase activity, transferring glycosyl groups ovary(1)|pancreas(1) 2 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) AGGAGCTGCTCCGGCGTCAGC 0.572 17 47 --- --- --- --- PASS COLEC12 81035 broad.mit.edu 37 18 334952 334952 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr18:334952C>A uc002kkm.2 - 6 1821 c.1606G>T c.(1606-1608)GGA>TGA p.G536* NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 536 Collagen-like 3.|Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CCGGGGAGTCCCTCTTTGCCT 0.731 14 20 --- --- --- --- PASS RALBP1 10928 broad.mit.edu 37 18 9517070 9517070 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr18:9517070G>C uc002kob.2 + 3 695 c.472G>C c.(472-474)GAT>CAT p.D158H RALBP1_uc002koc.2_Missense_Mutation_p.D158H NM_006788 NP_006779 Q15311 RBP1_HUMAN ralA binding protein 1 158 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 gacagcagctgatgttgttaa 0.134 11 5 --- --- --- --- PASS FAM38B 63895 broad.mit.edu 37 18 10696074 10696074 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr18:10696074C>T uc002kor.3 - 5 860 c.720G>A c.(718-720)GAG>GAA p.E240E FAM38B_uc002koq.2_Silent_p.E138E NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2283 integral to membrane ion channel activity ovary(1) 1 GACCTTACCTCTCAGTCACAC 0.498 79 112 --- --- --- --- PASS AFG3L2 10939 broad.mit.edu 37 18 12358935 12358935 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr18:12358935G>A uc002kqz.1 - 8 873 c.760C>T c.(760-762)CTG>TTG p.L254L NM_006796 NP_006787 Q9Y4W6 AFG32_HUMAN AFG3 ATPase family gene 3-like 2 254 Helical; (Potential). cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 Adenosine triphosphate(DB00171) ATGCTCAGCAGAAAAGAGCTG 0.537 8 38 --- --- --- --- PASS ESCO1 114799 broad.mit.edu 37 18 19116018 19116018 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr18:19116018C>T uc002kth.1 - 10 3106 c.2172G>A c.(2170-2172)GCG>GCA p.A724A ESCO1_uc002kti.1_RNA NM_052911 NP_443143 Q5FWF5 ESCO1_HUMAN establishment of cohesion 1 homolog 1 724 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding 0 GGATATGTTCCGCAATTAGGC 0.333 61 172 --- --- --- --- PASS OSBPL1A 114876 broad.mit.edu 37 18 21892062 21892062 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr18:21892062C>A uc002kve.2 - 13 1152 c.978G>T c.(976-978)CTG>CTT p.L326L OSBPL1A_uc010xbc.1_5'Flank|OSBPL1A_uc002kvf.3_Silent_p.L106L NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 326 PH. cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) CTATTGCTTCCAGCCAGTCCT 0.393 93 93 --- --- --- --- PASS CDH2 1000 broad.mit.edu 37 18 25589781 25589781 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr18:25589781C>A uc002kwg.2 - 5 1061 c.602G>T c.(601-603)GGA>GTA p.G201V CDH2_uc010xbn.1_Missense_Mutation_p.G170V NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 201 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 CTGGTCAGCTCCTGGCCCAGT 0.483 21 57 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31314344 31314344 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr18:31314344G>T uc010dmg.1 + 10 1102 c.1047G>T c.(1045-1047)TGG>TGT p.W349C ASXL3_uc002kxq.2_Missense_Mutation_p.W56C NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CAGAACCTTGGAAAGAAAAAT 0.318 12 17 --- --- --- --- PASS SETBP1 26040 broad.mit.edu 37 18 42533143 42533143 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr18:42533143G>T uc010dni.2 + 4 4134 c.3838G>T c.(3838-3840)GTG>TTG p.V1280L NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1280 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GAACCTGGACGTGTTCAGTGA 0.512 Schinzel-Giedion_syndrome 11 41 --- --- --- --- PASS PHLPP1 23239 broad.mit.edu 37 18 60527717 60527717 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr18:60527717A>T uc002lis.2 + 5 591 c.413A>T c.(412-414)GAA>GTA p.E138V NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 650 LRR 1. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 TGTAGCCTGGAACATCTGCCT 0.463 13 23 --- --- --- --- PASS SERPINB12 89777 broad.mit.edu 37 18 61231353 61231353 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr18:61231353G>T uc010xen.1 + 5 645 c.645G>T c.(643-645)GCG>GCT p.A215A SERPINB12_uc010xeo.1_Silent_p.A235A NM_080474 NP_536722 Q96P63 SPB12_HUMAN serine (or cysteine) proteinase inhibitor, clade 215 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity 0 GTCTAAATGCGGTAGTGTATC 0.388 26 71 --- --- --- --- PASS CDH7 1005 broad.mit.edu 37 18 63489423 63489423 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr18:63489423A>T uc002ljz.2 + 5 1057 c.732A>T c.(730-732)GGA>GGT p.G244G CDH7_uc002lka.2_Silent_p.G244G|CDH7_uc002lkb.2_Silent_p.G244G NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 244 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) GACTGTCAGGAACTACATCAG 0.423 16 38 --- --- --- --- PASS CBLN2 147381 broad.mit.edu 37 18 70209051 70209051 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr18:70209051G>A uc002lku.2 - 2 580 c.345C>T c.(343-345)ATC>ATT p.I115I CBLN2_uc002lkv.2_Silent_p.I115I NM_182511 NP_872317 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 115 C1q. integral to membrane 0 Esophageal squamous(42;0.131) GGTCGAAATAGATGGTCATGG 0.701 5 14 --- --- --- --- PASS NETO1 81832 broad.mit.edu 37 18 70532460 70532460 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr18:70532460G>T uc002lkw.2 - 2 329 c.45C>A c.(43-45)ATC>ATA p.I15I NETO1_uc002lkx.1_Silent_p.I14I|NETO1_uc002lky.1_Silent_p.I15I|NETO1_uc002lkz.2_Silent_p.I14I NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 15 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AATGGAGGATGATTAAACTTG 0.308 9 23 --- --- --- --- PASS NFATC1 4772 broad.mit.edu 37 18 77170980 77170980 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr18:77170980G>T uc010xfg.1 + 2 1158 c.705G>T c.(703-705)CGG>CGT p.R235R NFATC1_uc002lnc.1_Silent_p.R235R|NFATC1_uc010xff.1_Silent_p.R235R|NFATC1_uc002lnd.2_Silent_p.R235R|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Silent_p.R235R|NFATC1_uc010xfi.1_Silent_p.R222R|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Silent_p.R222R|NFATC1_uc002lng.2_Silent_p.R222R|NFATC1_uc010xfk.1_Silent_p.R222R NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 235 3 X SP repeats.|2. R -> Q (in Ref. 1; AAA19601). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GTTCCCCGCGGCACTCCCCCT 0.701 5 22 --- --- --- --- PASS SHC2 25759 broad.mit.edu 37 19 425194 425194 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:425194C>A uc002loq.3 - 10 1212 c.1212G>T c.(1210-1212)CGG>CGT p.R404R SHC2_uc002lop.3_Silent_p.R145R NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 404 CH1. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGGGGCCCCGGGCGTCCG 0.682 25 12 --- --- --- --- PASS PALM 5064 broad.mit.edu 37 19 746411 746411 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:746411C>A uc002lpm.1 + 9 955 c.761C>A c.(760-762)GCA>GAA p.A254E PALM_uc002lpn.1_Missense_Mutation_p.A210E|PALM_uc010xfu.1_Missense_Mutation_p.A119E NM_002579 NP_002570 O75781 PALM_HUMAN paralemmin isoform 1 254 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane 0 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201) GCCGGGGCGGCAGAGACCCGG 0.726 3 17 --- --- --- --- PASS ATP8B3 148229 broad.mit.edu 37 19 1783259 1783259 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:1783259A>T uc002ltw.2 - 29 3905 c.3671T>A c.(3670-3672)GTG>GAG p.V1224E ATP8B3_uc002ltv.2_Missense_Mutation_p.V1187E|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 1224 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCTCCTCCACCTTCTCCTC 0.587 9 6 --- --- --- --- PASS TMPRSS9 360200 broad.mit.edu 37 19 2413830 2413830 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:2413830G>A uc010xgx.1 + 9 1285 c.1285G>A c.(1285-1287)GAC>AAC p.D429N TMPRSS9_uc002lvv.1_Missense_Mutation_p.D463N NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 429 Extracellular (Potential).|Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 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) CAGGCTACGTGACTGGATCCT 0.677 39 39 --- --- --- --- PASS ZNF554 115196 broad.mit.edu 37 19 2834576 2834576 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:2834576G>T uc002lwm.2 + 5 1541 c.1343G>T c.(1342-1344)CGT>CTT p.R448L ZNF554_uc002lwl.2_Missense_Mutation_p.R397L NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN zinc finger protein 554 448 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTCAGTGACCGTTCCTCTCTC 0.537 33 21 --- --- --- --- PASS ZNF556 80032 broad.mit.edu 37 19 2877357 2877357 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:2877357G>A uc002lwp.1 + 4 488 c.401G>A c.(400-402)CGT>CAT p.R134H ZNF556_uc002lwq.2_Missense_Mutation_p.R133H NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN zinc finger protein 556 134 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) AATTGTAATCGTCATCTGCGC 0.418 50 36 --- --- --- --- PASS TMIGD2 126259 broad.mit.edu 37 19 4298101 4298101 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:4298101G>T uc002lzx.1 - 2 334 c.288C>A c.(286-288)ACC>ACA p.T96T TMIGD2_uc010dtv.1_Silent_p.T96T NM_144615 NP_653216 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain 96 Extracellular (Potential).|Ig-like. integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGCTGCAGGGTGAGATGGC 0.647 51 53 --- --- --- --- PASS VAV1 7409 broad.mit.edu 37 19 6853990 6853990 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:6853990G>A uc002mfu.1 + 26 2462 c.2365G>A c.(2365-2367)GCC>ACC p.A789T VAV1_uc010xjh.1_Missense_Mutation_p.A757T|VAV1_uc010dva.1_Missense_Mutation_p.A767T|VAV1_uc002mfv.1_Missense_Mutation_p.A734T NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 789 SH3 2. 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 CACAGCCAAAGCCCGCTATGA 0.542 88 79 --- --- --- --- PASS FCER2 2208 broad.mit.edu 37 19 7762180 7762180 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:7762180C>A uc002mhn.2 - 6 442 c.258G>T c.(256-258)ACG>ACT p.T86T FCER2_uc010xjs.1_Silent_p.T8T|FCER2_uc010xjt.1_Silent_p.T8T|FCER2_uc002mhm.2_Silent_p.T86T|FCER2_uc010dvo.2_Silent_p.T86T NM_002002 NP_001993 P06734 FCER2_HUMAN Fc fragment of IgE, low affinity II, receptor 86 Extracellular (Potential).| positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity extracellular region|integral to plasma membrane IgE binding|integrin binding|receptor activity|sugar binding 0 GTGAAATCTGCGTGGCTGTTT 0.552 37 31 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9012814 9012814 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:9012814G>T uc002mkp.2 - 34 38834 c.38630C>A c.(38629-38631)TCC>TAC p.S12877Y MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12879 SEA 6.|Extracellular (Potential). Missing (in Ref. 3; AAK74120). 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 GAACTTCCTGGAGCCTGGGTG 0.597 85 68 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9045689 9045689 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:9045689G>T uc002mkp.2 - 5 36146 c.35942C>A c.(35941-35943)ACA>AAA p.T11981K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11983 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 ACTGGAACCTGTGGTAGCTAA 0.498 21 21 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9046271 9046271 + Missense_Mutation SNP G T T rs144987884 by1000genomes TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:9046271G>T uc002mkp.2 - 5 35564 c.35360C>A c.(35359-35361)CCT>CAT p.P11787H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11789 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 AGTTGAAGCAGGAAATGTTTT 0.478 33 29 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9046272 9046272 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:9046272G>T uc002mkp.2 - 5 35563 c.35359C>A c.(35359-35361)CCT>ACT p.P11787T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11789 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 GTTGAAGCAGGAAATGTTTTA 0.473 34 28 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9072189 9072189 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:9072189C>A uc002mkp.2 - 3 15461 c.15257G>T c.(15256-15258)CGC>CTC p.R5086L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5088 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 AGGTTCCAAGCGTGTACGTAA 0.433 82 81 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9072904 9072904 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:9072904C>G uc002mkp.2 - 3 14746 c.14542G>C c.(14542-14544)GTC>CTC p.V4848L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4850 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 TAAGCTGAGACAGTAGAATGT 0.443 41 42 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9076689 9076689 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:9076689G>T uc002mkp.2 - 3 10961 c.10757C>A c.(10756-10758)ACA>AAA p.T3586K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3587 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 TGATGCAGCTGTGGAAGACCA 0.488 67 46 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9087693 9087693 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:9087693G>T uc002mkp.2 - 1 4326 c.4122C>A c.(4120-4122)CCC>CCA p.P1374P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1374 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 TGGTGAGATTGGGTGAACTTG 0.468 40 50 --- --- --- --- PASS OR7D4 125958 broad.mit.edu 37 19 9324727 9324727 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:9324727C>A uc002mla.1 - 1 787 c.787G>T c.(787-789)GCT>TCT p.A263S NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, 263 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 TGGGTCACAGCAGAACTCAGA 0.537 54 35 --- --- --- --- PASS ZNF846 162993 broad.mit.edu 37 19 9873983 9873983 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:9873983C>G uc002mmb.1 - 3 648 c.117G>C c.(115-117)GAG>GAC p.E39D ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_5'UTR NM_001077624 NP_001071092 Q147U1 ZN846_HUMAN zinc finger protein 846 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCTTGTAGTTCTCCAACATCA 0.418 98 64 --- --- --- --- PASS S1PR2 9294 broad.mit.edu 37 19 10335161 10335161 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:10335161C>A uc002mnl.2 - 2 532 c.421G>T c.(421-423)GGC>TGC p.G141C NM_004230 NP_004221 O95136 S1PR2_HUMAN endothelial differentiation, sphingolipid 141 Cytoplasmic (By similarity). activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|central_nervous_system(1) 2 TTGTCGCTGCCATACAGCTTG 0.642 31 21 --- --- --- --- PASS ICAM3 3385 broad.mit.edu 37 19 10445845 10445845 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:10445845G>T uc002mob.2 - 4 889 c.834C>A c.(832-834)GCC>GCA p.A278A RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Silent_p.A201A|ICAM3_uc010xlf.1_3'UTR NM_002162 NP_002153 P32942 ICAM3_HUMAN intercellular adhesion molecule 3 precursor 278 Extracellular (Potential).|Ig-like C2-type 3. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) CCGTGGCTGTGGCTGTGGCCG 0.657 42 37 --- --- --- --- PASS ZNF439 90594 broad.mit.edu 37 19 11978459 11978459 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:11978459G>A uc002mss.2 + 3 703 c.575G>A c.(574-576)GGA>GAA p.G192E ZNF439_uc002msr.2_Missense_Mutation_p.G56E NM_152262 NP_689475 Q8NDP4 ZN439_HUMAN zinc finger protein 439 192 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 AAAGAATGTGGAAAAAACATT 0.388 80 69 --- --- --- --- PASS ASNA1 439 broad.mit.edu 37 19 12848436 12848436 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:12848436G>T uc002muv.2 + 1 131 c.117G>T c.(115-117)TGG>TGT p.W39C C19orf43_uc002muu.2_5'Flank|ASNA1_uc002muw.2_Missense_Mutation_p.W39C NM_004317 NP_004308 O43681 ASNA_HUMAN arsA arsenite transporter, ATP-binding, homolog 39 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction arsenite-transporting ATPase activity|ATP binding|metal ion binding ovary(2) 2 Adenosine triphosphate(DB00171) GCCTGAAGTGGATCTTCGTCG 0.627 12 16 --- --- --- --- PASS PKN1 5585 broad.mit.edu 37 19 14574703 14574703 + Missense_Mutation SNP G T T rs56273055 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:14574703G>T uc002myp.2 + 11 1727 c.1559G>T c.(1558-1560)CGG>CTG p.R520L PKN1_uc002myq.2_Missense_Mutation_p.R526L NM_002741 NP_002732 Q16512 PKN1_HUMAN protein kinase N1 isoform 2 520 activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 CGGCTGCTCCGGAGGCTCATC 0.667 19 21 --- --- --- --- PASS CYP4F2 8529 broad.mit.edu 37 19 15997053 15997053 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:15997053C>T uc002nbs.1 - 8 1034 c.984G>A c.(982-984)GAG>GAA p.E328E CYP4F2_uc010xot.1_Silent_p.E179E|CYP4F2_uc010xou.1_Intron NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 328 Heme (covalent; via 1 link) (By similarity). leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 GGCCCTCACCCTCAAACATAA 0.582 162 173 --- --- --- --- PASS OR10H4 126541 broad.mit.edu 37 19 16060490 16060490 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:16060490G>C uc010xov.1 + 1 673 c.673G>C c.(673-675)GCT>CCT p.A225P NM_001004465 NP_001004465 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 CTTCATTGTGGCTGCCATCTT 0.493 85 67 --- --- --- --- PASS USHBP1 83878 broad.mit.edu 37 19 17370465 17370465 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:17370465G>C uc002nfs.1 - 6 958 c.845C>G c.(844-846)CCC>CGC p.P282R USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.P218R|USHBP1_uc010eam.1_Missense_Mutation_p.P210R NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 282 PDZ domain binding ovary(1) 1 GGGCTGGTTGGGAAGAGACCC 0.572 142 86 --- --- --- --- PASS ANO8 57719 broad.mit.edu 37 19 17438608 17438608 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:17438608G>T uc002ngf.2 - 14 2467 c.2308C>A c.(2308-2310)CTG>ATG p.L770M ANO8_uc010eap.2_RNA NM_020959 NP_066010 Q9HCE9 ANO8_HUMAN anoctamin 8 770 Helical; (Potential). chloride channel complex chloride channel activity ovary(3) 3 AGGGCGCACAGCGCCGCCAGG 0.652 46 45 --- --- --- --- PASS PGPEP1 54858 broad.mit.edu 37 19 18474268 18474268 + Missense_Mutation SNP G T T rs142770605 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:18474268G>T uc002nis.1 + 5 589 c.505G>T c.(505-507)GTG>TTG p.V169L PGPEP1_uc002nir.1_RNA|PGPEP1_uc002nit.1_Missense_Mutation_p.V92L|PGPEP1_uc010xqg.1_Missense_Mutation_p.V92L NM_017712 NP_060182 Q9NXJ5 PGPI_HUMAN pyroglutamyl-peptidase I 169 cysteine-type peptidase activity 0 CTTCGTCCACGTGCCCCCACT 0.582 16 15 --- --- --- --- PASS GATAD2A 54815 broad.mit.edu 37 19 19613322 19613322 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:19613322G>T uc010xqt.1 + 11 2070 c.1758G>T c.(1756-1758)ACG>ACT p.T586T GATAD2A_uc010xqu.1_Silent_p.T215T|GATAD2A_uc010xqv.1_Silent_p.T606T|GATAD2A_uc010xqw.1_Silent_p.T389T NM_017660 NP_060130 Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 586 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GGAAGAAGACGCCCCTCAGCA 0.637 44 49 --- --- --- --- PASS ATP13A1 57130 broad.mit.edu 37 19 19758456 19758456 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:19758456C>A uc002nnh.3 - 20 2773 c.2745G>T c.(2743-2745)AAG>AAT p.K915N ATP13A1_uc002nne.2_Missense_Mutation_p.K55N|ATP13A1_uc002nnf.3_Missense_Mutation_p.K283N|ATP13A1_uc002nng.2_Missense_Mutation_p.K797N NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 915 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(3)|large_intestine(2)|central_nervous_system(1) 6 CCGACCGCTGCTTGGCTGTCC 0.692 10 16 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22154164 22154164 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:22154164G>T uc002nqp.2 - 6 3437 c.3288C>A c.(3286-3288)CCC>CCA p.P1096P ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) CACATTTGTAGGGTTTCTCTC 0.383 21 31 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22363556 22363556 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:22363556G>T uc002nqs.1 - 3 1281 c.963C>A c.(961-963)TCC>TCA p.S321S NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 321 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TAAGGCTTGAGGACCAGCTGA 0.428 37 79 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22375821 22375821 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:22375821G>T uc002nqs.1 - 2 445 c.127C>A c.(127-129)CCA>ACA p.P43T NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CACCTACCTGGGGGTTCTTCC 0.433 40 49 --- --- --- --- PASS C19orf2 8725 broad.mit.edu 37 19 30505793 30505793 + Splice_Site SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:30505793G>T uc002nsr.2 + 11 1456 c.1426_splice c.e11-1 p.A476_splice C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Splice_Site_p.A436_splice|C19orf2_uc002nst.2_Splice_Site_p.A400_splice NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) TTGTTTTCTAGGCTTTTTCTG 0.368 61 143 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30936088 30936088 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:30936088A>T uc002nsu.1 + 2 1757 c.1619A>T c.(1618-1620)AAA>ATA p.K540I ZNF536_uc010edd.1_Missense_Mutation_p.K540I NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 540 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TTCTTGTCTAAAGAGCATCCG 0.587 55 108 --- --- --- --- PASS DPY19L3 147991 broad.mit.edu 37 19 32955672 32955672 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:32955672G>T uc002ntg.2 + 15 1772 c.1596G>T c.(1594-1596)CTG>CTT p.L532L DPY19L3_uc002nth.1_Silent_p.L532L|DPY19L3_uc002nti.1_RNA NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 532 Helical; (Potential). integral to membrane p.L532V(1) ovary(4) 4 Esophageal squamous(110;0.162) TATTAATACTGCTGTATCTAT 0.234 39 77 --- --- --- --- PASS RGS9BP 388531 broad.mit.edu 37 19 33167781 33167781 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:33167781G>T uc002ntp.1 + 1 1469 c.612G>T c.(610-612)GGG>GGT p.G204G ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank NM_207391 NP_997274 Q6ZS82 R9BP_HUMAN RGS9 anchor protein 204 Cytoplasmic (Potential). negative regulation of signal transduction integral to membrane central_nervous_system(1) 1 Esophageal squamous(110;0.137) AGCGCGGGGGGGGTTGCGACC 0.741 6 4 --- --- --- --- PASS RHPN2 85415 broad.mit.edu 37 19 33490526 33490526 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:33490526G>A uc002nuf.2 - 10 1257 c.1191C>T c.(1189-1191)GCC>GCT p.A397A RHPN2_uc010xro.1_Silent_p.A246A|RHPN2_uc002nue.2_Silent_p.A127A NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 397 BRO1. signal transduction perinuclear region of cytoplasm protein binding central_nervous_system(5)|ovary(1) 6 Esophageal squamous(110;0.137) TCTTCAGTGTGGCCAAGGGTG 0.622 5 82 --- --- --- --- PASS WDR88 126248 broad.mit.edu 37 19 33623155 33623155 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:33623155A>T uc002nui.2 + 1 158 c.80A>T c.(79-81)GAG>GTG p.E27V NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN PQQ repeat and WD repeat domain containing 27 ovary(1)|breast(1)|central_nervous_system(1) 3 Esophageal squamous(110;0.137) CCCGCCAGCGAGTATTGTCCC 0.701 40 131 --- --- --- --- PASS LGI4 163175 broad.mit.edu 37 19 35617781 35617781 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:35617781A>T uc002nxx.2 - 7 1363 c.769T>A c.(769-771)TTC>ATC p.F257I LGI4_uc002nxy.1_Missense_Mutation_p.F85I|LGI4_uc002nxz.1_Missense_Mutation_p.F85I NM_139284 NP_644813 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 257 extracellular region pancreas(1) 1 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) TCGGGCCGGAAGCGCTGCAGG 0.677 11 25 --- --- --- --- PASS CD22 933 broad.mit.edu 37 19 35835768 35835768 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:35835768G>A uc010edt.2 + 10 2149 c.2072G>A c.(2071-2073)GGA>GAA p.G691E CD22_uc010xst.1_Missense_Mutation_p.G519E|CD22_uc010edu.2_Missense_Mutation_p.G603E|CD22_uc010edv.2_Missense_Mutation_p.G691E|CD22_uc002nzb.3_Missense_Mutation_p.G514E|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 691 Helical; (Potential). cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) GTGGCTGTGGGACTCGGGTCC 0.622 33 128 --- --- --- --- PASS HAUS5 23354 broad.mit.edu 37 19 36113796 36113796 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:36113796G>T uc002oam.1 + 19 1854 c.1803G>T c.(1801-1803)CAG>CAT p.Q601H NM_015302 NP_056117 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 601 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle 0 AGCCAGGCCAGGCCGCCCTCT 0.662 57 78 --- --- --- --- PASS MLL4 9757 broad.mit.edu 37 19 36214714 36214714 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:36214714G>A uc010eei.2 + 9 3140 c.3140G>A c.(3139-3141)CGG>CAG p.R1047Q NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1047 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGCCCACGCCGGGGGGCGGGA 0.701 6 14 --- --- --- --- PASS KIRREL2 84063 broad.mit.edu 37 19 36352130 36352130 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:36352130C>A uc002ocb.3 + 9 1375 c.1163C>A c.(1162-1164)GCC>GAC p.A388D KIRREL2_uc002obz.3_Missense_Mutation_p.A388D|KIRREL2_uc002oca.3_Missense_Mutation_p.A338D|KIRREL2_uc002occ.3_Missense_Mutation_p.A335D|KIRREL2_uc002ocd.3_Missense_Mutation_p.A385D NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 388 Extracellular (Potential).|Ig-like C2-type 4. cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 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) CGGGGCGGCGCCGCGGAGGCT 0.692 12 8 --- --- --- --- PASS ZNF585B 92285 broad.mit.edu 37 19 37676857 37676857 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:37676857C>A uc002ofq.2 - 5 1836 c.1582G>T c.(1582-1584)GGA>TGA p.G528* uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Nonsense_Mutation_p.G342* NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 528 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAGGCTTTTCCACAAGTATTG 0.408 36 117 --- --- --- --- PASS ZNF781 163115 broad.mit.edu 37 19 38160624 38160624 + Silent SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:38160624T>C uc002ogy.2 - 4 1168 c.426A>G c.(424-426)AGA>AGG p.R142R ZNF781_uc002ogz.2_Silent_p.R137R NM_152605 NP_689818 Q8N8C0 ZN781_HUMAN zinc finger protein 781 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCGTAAAGTCTCTCATCAGTG 0.373 93 67 --- --- --- --- PASS ZNF781 163115 broad.mit.edu 37 19 38161015 38161015 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:38161015G>T uc002ogy.2 - 4 777 c.35C>A c.(34-36)GCA>GAA p.A12E ZNF781_uc002ogz.2_Missense_Mutation_p.A7E NM_152605 NP_689818 Q8N8C0 ZN781_HUMAN zinc finger protein 781 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGCAGTCTCTGCCACATTCTT 0.343 92 67 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38991614 38991614 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:38991614C>A uc002oit.2 + 47 7728 c.7598C>A c.(7597-7599)GCC>GAC p.A2533D RYR1_uc002oiu.2_Missense_Mutation_p.A2533D|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2533 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) ATGAGGGCAGCCGCCTCGCTG 0.642 19 12 --- --- --- --- PASS RINL 126432 broad.mit.edu 37 19 39362466 39362466 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:39362466G>A uc002ojq.2 - 5 404 c.16C>T c.(16-18)CAT>TAT p.H6Y RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Missense_Mutation_p.H120Y NM_198445 NP_940847 Q6ZS11 RINL_HUMAN Ras and Rab interactor-like 6 GTPase activator activity pancreas(1) 1 GCCAGGAGATGGGGCAGGTCT 0.567 48 31 --- --- --- --- PASS ARHGEF1 9138 broad.mit.edu 37 19 42396400 42396400 + Splice_Site SNP A C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:42396400A>C uc002orx.2 + 6 434 c.325_splice c.e6-2 p.V109_splice ARHGEF1_uc002orw.1_Splice_Site_p.V109_splice|ARHGEF1_uc002ory.2_Splice_Site_p.V76_splice|ARHGEF1_uc002orz.2_5'UTR|ARHGEF1_uc002osa.2_Splice_Site_p.V124_splice|ARHGEF1_uc002osb.2_Splice_Site_p.V91_splice NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) TCTCTTGAGCAGGTTCTCCGG 0.607 46 248 --- --- --- --- PASS POU2F2 5452 broad.mit.edu 37 19 42600276 42600276 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:42600276G>T uc002osp.2 - 8 688 c.621C>A c.(619-621)GCC>GCA p.A207A POU2F2_uc002osn.2_Silent_p.A191A|POU2F2_uc002oso.2_5'UTR|POU2F2_uc002osq.2_Silent_p.A191A|POU2F2_uc002osr.1_Silent_p.A207A NM_002698 NP_002689 P09086 PO2F2_HUMAN POU domain, class 2, transcription factor 2 207 POU-specific. humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 Prostate(69;0.059) TGAAGGTGCGGGCGAATTGCT 0.662 16 19 --- --- --- --- PASS PSG6 5675 broad.mit.edu 37 19 43414914 43414914 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:43414914G>T uc002ovj.1 - 3 576 c.524C>A c.(523-525)GCA>GAA p.A175E PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.A182E|PSG6_uc002ovi.2_Missense_Mutation_p.A176E|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Missense_Mutation_p.A175E|PSG6_uc002ovg.1_Missense_Mutation_p.A175E NM_002782 NP_002773 Q00889 PSG6_HUMAN pregnancy specific beta-1-glycoprotein 6 isoform 175 Ig-like C2-type 1. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) CAGGTAGCTTGCATCCGGAGT 0.527 73 247 --- --- --- --- PASS PSG7 5676 broad.mit.edu 37 19 43433662 43433662 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:43433662G>T uc002ovl.3 - 4 743 c.641C>A c.(640-642)CCC>CAC p.P214H PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_Missense_Mutation_p.P33H|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.P92H NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 214 Ig-like C2-type 1. female pregnancy extracellular region 0 Prostate(69;0.00682) ACATTCATAGGGTCCTGCAGT 0.512 111 476 --- --- --- --- PASS PSG2 5670 broad.mit.edu 37 19 43575854 43575854 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:43575854G>A uc002ovr.2 - 4 1055 c.962C>T c.(961-963)TCT>TTT p.S321F PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.S321F|PSG2_uc010eiq.1_Missense_Mutation_p.S321F|PSG2_uc002ovs.3_Missense_Mutation_p.S321F|PSG2_uc002ovt.3_Missense_Mutation_p.S321F NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 321 cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) CCACTTACCAGAGACTTTGAC 0.473 65 276 --- --- --- --- PASS XRCC1 7515 broad.mit.edu 37 19 44065074 44065074 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:44065074C>G uc002owt.2 - 3 363 c.243G>C c.(241-243)GAG>GAC p.E81D XRCC1_uc010xwp.1_Missense_Mutation_p.E50D NM_006297 NP_006288 P18887 XRCC1_HUMAN X-ray repair cross complementing protein 1 81 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) CATAGTCTTGCTCCCCAGCGC 0.582 Other_BER_factors 109 174 --- --- --- --- PASS ZNF283 284349 broad.mit.edu 37 19 44352080 44352080 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:44352080G>T uc002oxr.3 + 7 1595 c.1327G>T c.(1327-1329)GGC>TGC p.G443C ZNF283_uc002oxp.3_Missense_Mutation_p.G304C NM_181845 NP_862828 Q8N7M2 ZN283_HUMAN zinc finger protein 283 443 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) CTTTAGTCGTGGCTATCACCT 0.388 19 108 --- --- --- --- PASS CKM 1158 broad.mit.edu 37 19 45822880 45822880 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:45822880G>A uc002pbd.2 - 2 166 c.92C>T c.(91-93)GCC>GTC p.A31V NM_001824 NP_001815 P06732 KCRM_HUMAN muscle creatine kinase 31 Phosphagen kinase N-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity skin(1) 1 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) CAGTACCTTGGCCATGTGGTT 0.517 46 171 --- --- --- --- PASS GPR4 2828 broad.mit.edu 37 19 46094288 46094288 + Silent SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:46094288A>G uc002pcm.2 - 2 1782 c.837T>C c.(835-837)TGT>TGC p.C279C OPA3_uc010xxk.1_Intron NM_005282 NP_005273 P46093 GPR4_HUMAN G protein-coupled receptor 4 279 Helical; Name=7; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) GGTCCGCCACACAGTTGAGGC 0.652 25 38 --- --- --- --- PASS SYMPK 8189 broad.mit.edu 37 19 46328429 46328429 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:46328429C>A uc002pdn.2 - 18 2735 c.2490G>T c.(2488-2490)CCG>CCT p.P830P SYMPK_uc002pdo.1_Silent_p.P830P|SYMPK_uc002pdp.1_Silent_p.P830P NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 830 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) GGGGCCTCACCGGCTGCTCAA 0.642 55 42 --- --- --- --- PASS SYMPK 8189 broad.mit.edu 37 19 46332347 46332347 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:46332347C>A uc002pdn.2 - 14 2111 c.1866G>T c.(1864-1866)TGG>TGT p.W622C SYMPK_uc002pdo.1_Missense_Mutation_p.W622C|SYMPK_uc002pdp.1_Missense_Mutation_p.W622C NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 622 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CCTGGTAGAGCCAGGCGAAGG 0.642 47 74 --- --- --- --- PASS CCDC8 83987 broad.mit.edu 37 19 46914865 46914865 + Silent SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:46914865T>C uc002pep.2 - 1 2055 c.1203A>G c.(1201-1203)TCA>TCG p.S401S NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 401 plasma membrane ovary(3) 3 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CTGTAACCTCTGACCCCTGGT 0.607 40 144 --- --- --- --- PASS DHX34 9704 broad.mit.edu 37 19 47858496 47858496 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:47858496G>T uc010xyn.1 + 3 1247 c.906G>T c.(904-906)CGG>CGT p.R302R DHX34_uc010elc.1_Silent_p.R302R NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 302 Helicase ATP-binding. intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) TGCCCACGCGGCCTGACCTCA 0.587 102 127 --- --- --- --- PASS CABP5 56344 broad.mit.edu 37 19 48547117 48547117 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:48547117C>A uc002phu.1 - 1 188 c.63G>T c.(61-63)CGG>CGT p.R21R NM_019855 NP_062829 Q9NP86 CABP5_HUMAN calcium binding protein 5 21 signal transduction cytoplasm calcium ion binding skin(1) 1 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) cccacctcacccGCTGTTTCT 0.378 28 32 --- --- --- --- PASS C19orf73 55150 broad.mit.edu 37 19 49622256 49622256 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:49622256T>A uc002pmq.3 - 1 142 c.24A>T c.(22-24)CAA>CAT p.Q8H PPFIA3_uc002pmr.2_5'Flank|PPFIA3_uc010yai.1_5'Flank NM_018111 NP_060581 Q9NVV2 CS073_HUMAN hypothetical protein LOC55150 8 large_intestine(1) 1 AGCCCCCGCCTTGAAATCCAA 0.706 19 59 --- --- --- --- PASS TSKS 60385 broad.mit.edu 37 19 50266502 50266502 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:50266502C>A uc002ppm.2 - 1 14 c.3G>T c.(1-3)ATG>ATT p.M1I NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 1 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CCACGCTCGCCATGGTGTGGG 0.637 39 121 --- --- --- --- PASS KLK3 354 broad.mit.edu 37 19 51361523 51361523 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:51361523G>T uc002pts.1 + 3 486 c.445G>T c.(445-447)GGG>TGG p.G149W KLK3_uc010ycj.1_Intron|KLK3_uc002ptr.1_Missense_Mutation_p.G106W|KLK3_uc010eof.1_RNA NM_001030047 NP_001025218 P07288 KLK3_HUMAN prostate specific antigen isoform 3 149 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) GCCAGCACTGGGGACCACCTG 0.488 34 46 --- --- --- --- PASS C19orf75 284369 broad.mit.edu 37 19 51770668 51770668 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:51770668C>T uc002pwb.1 + 5 833 c.452C>T c.(451-453)GCG>GTG p.A151V C19orf75_uc010eov.1_RNA|C19orf75_uc010ycw.1_Missense_Mutation_p.A57V NM_173635 NP_775906 Q8N7X8 CS075_HUMAN hypothetical protein LOC284369 151 integral to membrane ovary(1)|pancreas(1) 2 AAAGCTGCAGCGATCAGAGCA 0.468 34 171 --- --- --- --- PASS SIGLEC12 89858 broad.mit.edu 37 19 52003232 52003232 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:52003232C>A uc002pwx.1 - 2 806 c.750G>T c.(748-750)GTG>GTT p.V250V SIGLEC12_uc002pww.1_Silent_p.V132V|SIGLEC12_uc010eoy.1_5'UTR NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 250 Ig-like V-type 2.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TTCCTCTCTCCACCTGGAAGT 0.537 37 115 --- --- --- --- PASS SIGLEC12 89858 broad.mit.edu 37 19 52004701 52004701 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:52004701A>G uc002pwx.1 - 1 343 c.287T>C c.(286-288)CTT>CCT p.L96P SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 96 Ig-like V-type 1.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TGGGTCCCCAAGGAGGTGGAA 0.537 66 147 --- --- --- --- PASS SIGLEC14 100049587 broad.mit.edu 37 19 52148737 52148737 + Silent SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:52148737T>A uc002pxf.3 - 4 867 c.747A>T c.(745-747)ACA>ACT p.T249T NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 249 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding ovary(1) 1 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TACCTGTGCCTGTGCCATTTC 0.552 23 147 --- --- --- --- PASS FPR2 2358 broad.mit.edu 37 19 52272532 52272532 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:52272532C>A uc002pxr.2 + 2 666 c.621C>A c.(619-621)GTC>GTA p.V207V FPR2_uc002pxs.3_Silent_p.V207V|FPR2_uc010epf.2_Silent_p.V207V NM_001005738 NP_001005738 P25090 FPR2_HUMAN formyl peptide receptor-like 1 207 Helical; Name=5; (Potential). cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity lung(3)|ovary(1) 4 TCCGGTTTGTCATTGGCTTTA 0.507 20 101 --- --- --- --- PASS ZNF534 147658 broad.mit.edu 37 19 52938435 52938435 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:52938435A>T uc002pzk.2 + 3 344 c.283A>T c.(283-285)AGG>TGG p.R95W ZNF534_uc002pzj.1_Missense_Mutation_p.R82W|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.R82W NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCCAGATGGCAGGGAGTGCAT 0.398 17 37 --- --- --- --- PASS ZNF701 55762 broad.mit.edu 37 19 53086575 53086575 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:53086575C>A uc002pzs.1 + 4 1390 c.1263C>A c.(1261-1263)CAC>CAA p.H421Q ZNF701_uc010ydn.1_Missense_Mutation_p.H487Q NM_018260 NP_060730 Q9NV72 ZN701_HUMAN zinc finger protein 701 421 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) TTTTTAATCACAAATCAAACC 0.358 14 65 --- --- --- --- PASS ZNF137 7696 broad.mit.edu 37 19 53100244 53100244 + RNA SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:53100244G>C uc002pzt.2 + 1 c.308G>C NR_023311 Homo sapiens zinc finger protein 137, mRNA (cDNA clone IMAGE:40016639). 0 GBM - Glioblastoma multiforme(134;0.0212)|OV - Ovarian serous cystadenocarcinoma(262;0.0221) AATCCATGGTGTAGGGAAACT 0.383 21 32 --- --- --- --- PASS ZNF600 162966 broad.mit.edu 37 19 53269553 53269553 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:53269553C>A uc002qab.3 - 3 1742 c.1456G>T c.(1456-1458)GCA>TCA p.A486S NM_198457 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 486 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) GTATGTTTTGCCAGATAGGAA 0.428 87 151 --- --- --- --- PASS ZNF320 162967 broad.mit.edu 37 19 53385191 53385191 + Missense_Mutation SNP T G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:53385191T>G uc002qag.2 - 4 379 c.188A>C c.(187-189)CAA>CCA p.Q63P ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.Q9P|ZNF320_uc002qai.2_Missense_Mutation_p.Q63P NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 63 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) TGTATTGCCTTGCCCTGTTGA 0.378 108 164 --- --- --- --- PASS ZNF160 90338 broad.mit.edu 37 19 53572005 53572005 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:53572005C>A uc010eqk.2 - 7 2198 c.1782G>T c.(1780-1782)AAG>AAT p.K594N ZNF160_uc002qaq.3_Missense_Mutation_p.K594N|ZNF160_uc002qar.3_Missense_Mutation_p.K594N NM_001102603 NP_001096073 Q9HCG1 ZN160_HUMAN zinc finger protein 160 594 C2H2-type 13. hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(134;0.02) AGTCATTACACTTGTAAGGTT 0.408 59 101 --- --- --- --- PASS BIRC8 112401 broad.mit.edu 37 19 53792943 53792943 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:53792943A>T uc002qbk.2 - 1 1933 c.685T>A c.(685-687)TTC>ATC p.F229I NM_033341 NP_203127 Q96P09 BIRC8_HUMAN baculoviral IAP repeat-containing 8 229 apoptosis zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(134;0.00304) CTTTGCTTGAAATCAATAACC 0.383 126 152 --- --- --- --- PASS BIRC8 112401 broad.mit.edu 37 19 53793364 53793364 + Silent SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:53793364C>T uc002qbk.2 - 1 1512 c.264G>A c.(262-264)GAG>GAA p.E88E NM_033341 NP_203127 Q96P09 BIRC8_HUMAN baculoviral IAP repeat-containing 8 88 apoptosis zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(134;0.00304) CCAGAGCTCCCTCAAGTGAAC 0.393 79 117 --- --- --- --- PASS ZNF761 388561 broad.mit.edu 37 19 53958872 53958872 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:53958872T>A uc010eqp.2 + 7 1569 c.1111T>A c.(1111-1113)TGC>AGC p.C371S ZNF761_uc010ydy.1_Missense_Mutation_p.C317S|ZNF761_uc002qbt.1_Missense_Mutation_p.C317S NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 371 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) ATCCCTTACATGCCATCATAG 0.428 45 227 --- --- --- --- PASS ZNF813 126017 broad.mit.edu 37 19 53995065 53995065 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:53995065G>T uc002qbu.2 + 4 1707 c.1579G>T c.(1579-1581)GAA>TAA p.E527* ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 527 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) CAAGTGTAATGAATGTGGCAA 0.373 22 44 --- --- --- --- PASS ZNF813 126017 broad.mit.edu 37 19 53995209 53995209 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:53995209G>T uc002qbu.2 + 4 1851 c.1723G>T c.(1723-1725)GGA>TGA p.G575* ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 575 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) ACTTCATACTGGAGAGAAACC 0.373 20 40 --- --- --- --- PASS NLRP12 91662 broad.mit.edu 37 19 54301541 54301541 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:54301541C>G uc002qch.3 - 8 3103 c.2883G>C c.(2881-2883)CTG>CTC p.L961L NLRP12_uc010eqw.2_Intron|NLRP12_uc002qci.3_Intron|NLRP12_uc002qcj.3_Silent_p.L962L|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 961 LRR 5. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GCCCCTCAGCCAGCAACCACA 0.622 45 55 --- --- --- --- PASS NLRP12 91662 broad.mit.edu 37 19 54307228 54307228 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:54307228C>T uc002qch.3 - 6 2783 c.2563G>A c.(2563-2565)GTC>ATC p.V855I NLRP12_uc010eqw.2_Missense_Mutation_p.V138I|NLRP12_uc002qci.3_Missense_Mutation_p.V855I|NLRP12_uc002qcj.3_Missense_Mutation_p.V856I|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.V856I NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 855 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AGTCTGCAGACTGGGTGCCTC 0.473 19 39 --- --- --- --- PASS NLRP12 91662 broad.mit.edu 37 19 54313686 54313686 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:54313686C>A uc002qch.3 - 3 1447 c.1227G>T c.(1225-1227)GTG>GTT p.V409V NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.V409V|NLRP12_uc002qcj.3_Silent_p.V409V|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.V409V NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 409 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AGGTACACACCACCCAGCACA 0.577 46 180 --- --- --- --- PASS MYADM 91663 broad.mit.edu 37 19 54377184 54377184 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:54377184G>A uc002qcl.2 + 3 549 c.401G>A c.(400-402)CGG>CAG p.R134Q MYADM_uc002qcm.2_Missense_Mutation_p.R134Q|MYADM_uc002qcn.2_Missense_Mutation_p.R134Q|MYADM_uc002qco.2_Missense_Mutation_p.R134Q|MYADM_uc002qcp.2_Missense_Mutation_p.R134Q NM_001020820 NP_001018656 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 134 MARVEL 1. integral to membrane ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) GGCCGTTCGCGGGACCACGCC 0.662 29 95 --- --- --- --- PASS CACNG7 59284 broad.mit.edu 37 19 54418756 54418756 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:54418756T>A uc002qcr.1 + 3 436 c.421T>A c.(421-423)TCG>ACG p.S141T CACNG7_uc010era.1_Missense_Mutation_p.S141T NM_031896 NP_114102 P62955 CCG7_HUMAN voltage-dependent calcium channel gamma-7 141 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(1) 1 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) CTTCATACTATCGGGTGAGCC 0.413 20 46 --- --- --- --- PASS TSEN34 79042 broad.mit.edu 37 19 54695431 54695431 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:54695431G>A uc002qdu.2 + 2 325 c.216G>A c.(214-216)CCG>CCA p.P72P MBOAT7_uc002qdq.2_5'Flank|MBOAT7_uc002qdr.2_5'Flank|MBOAT7_uc002qds.2_5'Flank|MBOAT7_uc010yen.1_5'Flank|MBOAT7_uc002qdt.3_5'Flank|TSEN34_uc010yeo.1_Silent_p.P72P|TSEN34_uc002qdv.2_Silent_p.P72P|TSEN34_uc002qdw.2_Silent_p.P72P NM_024075 NP_076980 Q9BSV6 SEN34_HUMAN tRNA-intron endonuclease 34 72 mRNA processing|tRNA-type intron splice site recognition and cleavage nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity 0 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TCAGCGCCCCGCGTCCAGACT 0.697 9 27 --- --- --- --- PASS LILRA5 353514 broad.mit.edu 37 19 54823819 54823819 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:54823819G>T uc002qfe.2 - 2 196 c.76C>A c.(76-78)CTG>ATG p.L26M LILRA5_uc002qff.2_Missense_Mutation_p.L26M|LILRA5_uc010yev.1_Missense_Mutation_p.L26M|LILRA5_uc010yew.1_Missense_Mutation_p.L26M|LILRA5_uc002qfh.1_Missense_Mutation_p.L26M|LILRA5_uc002qfg.1_Missense_Mutation_p.L26M NM_021250 NP_067073 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor subfamily 26 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) AGGCAGAGCAGAACCATGAGG 0.612 23 40 --- --- --- --- PASS LILRA4 23547 broad.mit.edu 37 19 54848414 54848414 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:54848414C>A uc002qfj.2 - 6 1010 c.953G>T c.(952-954)GGA>GTA p.G318V LILRA4_uc002qfi.2_Missense_Mutation_p.G252V NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 318 Extracellular (Potential). integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) AGAGATCTGTCCTGGAGAAAA 0.607 15 31 --- --- --- --- PASS LILRB4 11006 broad.mit.edu 37 19 55179429 55179429 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:55179429C>A uc002qgp.2 + 12 1668 c.1306C>A c.(1306-1308)CCA>ACA p.P436T LILRB4_uc002qgq.2_Missense_Mutation_p.P435T|LILRB4_uc002qgr.2_Missense_Mutation_p.P478T|LILRB4_uc010ert.2_Missense_Mutation_p.P477T|LILRB4_uc010eru.2_Missense_Mutation_p.P466T NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 436 Cytoplasmic (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) AGGGGCCTCTCCAGCTGAGCC 0.602 49 98 --- --- --- --- PASS KIR2DL4 3805 broad.mit.edu 37 19 55315366 55315366 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:55315366G>T uc010yfm.1 + 2 101 c.61G>T c.(61-63)GTG>TTG p.V21L KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Missense_Mutation_p.V16L|KIR2DL4_uc002qhg.2_Missense_Mutation_p.V21L|KIR2DL4_uc002qhi.2_Missense_Mutation_p.V21L|KIR2DL4_uc002qhh.2_Missense_Mutation_p.V21L|KIR2DL4_uc002qhj.2_Missense_Mutation_p.V21L|KIR2DL4_uc002qhf.2_Missense_Mutation_p.V21L|KIR2DL4_uc010esd.2_Missense_Mutation_p.V21L|KIR2DL4_uc010ese.2_5'Flank NM_002255 NP_002246 Q99706 KI2L4_HUMAN killer cell immunoglobulin-like receptor, two 21 cellular defense response|regulation of immune response integral to plasma membrane protein binding|transmembrane receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0192) GGACCAGAGTGTGTGGGCACA 0.532 82 113 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56443408 56443408 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:56443408C>A uc010ygg.1 - 1 295 c.270G>T c.(268-270)CAG>CAT p.Q90H NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 90 DAPIN. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GATTCATTGTCTGGAAGATGC 0.512 24 107 --- --- --- --- PASS NLRP8 126205 broad.mit.edu 37 19 56466446 56466446 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:56466446C>A uc002qmh.2 + 3 1093 c.1022C>A c.(1021-1023)ACA>AAA p.T341K NLRP8_uc010etg.2_Missense_Mutation_p.T341K NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 341 NACHT. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TCTTGGCAGACATGCAAGCCC 0.458 79 95 --- --- --- --- PASS NLRP8 126205 broad.mit.edu 37 19 56487655 56487655 + Silent SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:56487655A>G uc002qmh.2 + 8 2933 c.2862A>G c.(2860-2862)ACA>ACG p.T954T NLRP8_uc010etg.2_Silent_p.T935T NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 954 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTGACTGTACATTACAGATCC 0.453 49 62 --- --- --- --- PASS ZNF470 388566 broad.mit.edu 37 19 57086048 57086048 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:57086048C>A uc002qnl.3 + 5 905 c.229C>A c.(229-231)CAA>AAA p.Q77K ZNF470_uc010etn.2_RNA NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 77 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CTTACTGGAGCAAGAGAAAGA 0.418 20 70 --- --- --- --- PASS ZNF835 90485 broad.mit.edu 37 19 57175464 57175464 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:57175464C>G uc010ygo.1 - 2 1169 c.1169G>C c.(1168-1170)GGC>GCC p.G390A ZNF835_uc010ygn.1_Missense_Mutation_p.G368A NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 GAAGCGCTTGCCGCAGTCGTG 0.701 5 22 --- --- --- --- PASS USP29 57663 broad.mit.edu 37 19 57642468 57642468 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:57642468G>T uc002qny.2 + 4 2781 c.2425G>T c.(2425-2427)GAA>TAA p.E809* NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 809 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 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;0.026) TGAAGCCAAGGAACTAACAAG 0.478 16 24 --- --- --- --- PASS ZIM3 114026 broad.mit.edu 37 19 57646928 57646928 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:57646928G>T uc002qnz.1 - 5 1163 c.777C>A c.(775-777)GCC>GCA p.A259A NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 259 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCCAGGAAAAGGCTTTTCCAC 0.368 65 142 --- --- --- --- PASS ZNF304 57343 broad.mit.edu 37 19 57868780 57868780 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:57868780A>T uc010ygw.1 + 3 1931 c.1543A>T c.(1543-1545)AGC>TGC p.S515C ZNF304_uc010etw.2_Missense_Mutation_p.S562C|ZNF304_uc010etx.2_Missense_Mutation_p.S473C NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN zinc finger protein 304 515 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(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;0.0265) CTTCAGCCATAGCTCCAACCT 0.443 11 39 --- --- --- --- PASS ZNF417 147687 broad.mit.edu 37 19 58420355 58420355 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:58420355T>C uc002qqq.2 - 3 1490 c.1291A>G c.(1291-1293)ACT>GCT p.T431A ZNF417_uc010yhm.1_Missense_Mutation_p.T388A|ZNF417_uc002qqr.2_Missense_Mutation_p.T430A NM_152475 NP_689688 Q8TAU3 ZN417_HUMAN zinc finger protein 417 431 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)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) CTTTCCCCAGTGTGAAGTCTC 0.443 65 81 --- --- --- --- PASS ZSCAN1 284312 broad.mit.edu 37 19 58565188 58565188 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:58565188C>G uc002qrc.1 + 6 1243 c.996C>G c.(994-996)AAC>AAG p.N332K NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 332 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TCCTGCACAACTCCGTCCTCA 0.637 36 55 --- --- --- --- PASS ZNF135 7694 broad.mit.edu 37 19 58578318 58578318 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:58578318G>C uc010yhq.1 + 5 598 c.502G>C c.(502-504)GTT>CTT p.V168L ZNF135_uc002qre.2_Missense_Mutation_p.V156L|ZNF135_uc002qrd.1_Missense_Mutation_p.V114L|ZNF135_uc002qrf.2_Missense_Mutation_p.V114L|ZNF135_uc002qrg.2_Missense_Mutation_p.V126L|ZNF135_uc010yhr.1_5'UTR NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 168 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GAAGACGCCTGTTCTGGAGCA 0.557 39 66 --- --- --- --- PASS ZNF329 79673 broad.mit.edu 37 19 58639368 58639368 + Missense_Mutation SNP A C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:58639368A>C uc002qrn.2 - 4 1740 c.1503T>G c.(1501-1503)CAT>CAG p.H501Q ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 501 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) GGAGTCTCTGATGTACTGCCA 0.512 61 221 --- --- --- --- PASS DEFB128 245939 broad.mit.edu 37 20 170231 170231 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:170231A>T uc002wcz.1 - 1 34 c.34T>A c.(34-36)TTT>ATT p.F12I NM_001037732 NP_001032821 Q7Z7B8 DB128_HUMAN beta-defensin 128 precursor 12 defense response to bacterium extracellular region breast(1) 1 all_cancers(10;0.00499)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.122) AGTACCTCAAACAGCAGAATA 0.383 71 77 --- --- --- --- PASS TRIB3 57761 broad.mit.edu 37 20 377002 377002 + Missense_Mutation SNP G T T rs141572809 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:377002G>T uc002wdm.2 + 4 1251 c.745G>T c.(745-747)GTG>TTG p.V249L TRIB3_uc002wdn.2_Missense_Mutation_p.V276L NM_021158 NP_066981 Q96RU7 TRIB3_HUMAN tribbles 3 249 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity central_nervous_system(2) 2 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) GAGCCTGGGCGTGGCGCTCTT 0.667 30 24 --- --- --- --- PASS TGM6 343641 broad.mit.edu 37 20 2375200 2375200 + Nonsense_Mutation SNP C A A rs140181785 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:2375200C>A uc002wfy.1 + 2 171 c.110C>A c.(109-111)TCG>TAG p.S37* TGM6_uc010gal.1_Nonsense_Mutation_p.S37* NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 37 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) AGGGGCCAGTCGTTCAGCCTC 0.617 10 8 --- --- --- --- PASS TGM6 343641 broad.mit.edu 37 20 2398085 2398085 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:2398085T>A uc002wfy.1 + 10 1605 c.1544T>A c.(1543-1545)CTG>CAG p.L515Q TGM6_uc010gal.1_Missense_Mutation_p.L515Q NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 515 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) AGACTGGCCCTGTGCTTGGCC 0.642 27 14 --- --- --- --- PASS IDH3B 3420 broad.mit.edu 37 20 2641176 2641176 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:2641176C>A uc002wgp.2 - 7 601 c.592G>T c.(592-594)GCA>TCA p.A198S IDH3B_uc002wgq.2_Missense_Mutation_p.A198S|IDH3B_uc002wgr.2_Missense_Mutation_p.A46S|IDH3B_uc010zpz.1_3'UTR NM_006899 NP_008830 O43837 IDH3B_HUMAN isocitrate dehydrogenase 3, beta subunit isoform 198 isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding 0 NADH(DB00157) GCGAACTTTGCAATCCGCTGA 0.527 51 31 --- --- --- --- PASS CPXM1 56265 broad.mit.edu 37 20 2774982 2774982 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:2774982C>A uc002wgu.2 - 14 2123 c.2059G>T c.(2059-2061)GTC>TTC p.V687F CPXM1_uc010gas.2_Missense_Mutation_p.V613F NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 687 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 TCAAAGGTGACCCGACAGTTC 0.627 34 30 --- --- --- --- PASS CPXM1 56265 broad.mit.edu 37 20 2775967 2775967 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:2775967C>A uc002wgu.2 - 12 1880 c.1816G>T c.(1816-1818)GAG>TAG p.E606* CPXM1_uc010gas.2_Nonsense_Mutation_p.E532* NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 606 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 TTCTCCCACTCCTGGGGCAAT 0.552 46 30 --- --- --- --- PASS C20orf194 25943 broad.mit.edu 37 20 3233244 3233244 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:3233244G>C uc002wii.2 - 37 3559 c.3508C>G c.(3508-3510)CAT>GAT p.H1170D C20orf194_uc002wij.3_Missense_Mutation_p.H909D|C20orf194_uc002wik.2_Missense_Mutation_p.H844D NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 1170 0 AAGAGGTCATGATACTCCTGC 0.507 76 69 --- --- --- --- PASS ADAM33 80332 broad.mit.edu 37 20 3660146 3660146 + Missense_Mutation SNP T G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:3660146T>G uc002wit.2 - 2 257 c.170A>C c.(169-171)GAG>GCG p.E57A ADAM33_uc002wir.1_Missense_Mutation_p.E57A|ADAM33_uc002wiu.2_Missense_Mutation_p.E57A|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Missense_Mutation_p.E57A|ADAM33_uc010gbb.1_Missense_Mutation_p.E57A|ADAM33_uc002wix.1_Missense_Mutation_p.E57A|ADAM33_uc010zqg.1_Missense_Mutation_p.E57A|ADAM33_uc010zqh.1_Missense_Mutation_p.E57A|ADAM33_uc002wiy.2_Missense_Mutation_p.E57A NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 57 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 GACCGGCTCCTCCAGGCTGAC 0.612 9 12 --- --- --- --- PASS SPEF1 25876 broad.mit.edu 37 20 3759136 3759136 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:3759136C>A uc002wjj.2 - 6 703 c.535G>T c.(535-537)GAC>TAC p.D179Y NM_015417 NP_056232 Q9Y4P9 SPEF1_HUMAN calponin-homology and microtubule-associated 179 cilium axoneme|cytoplasm|cytoskeleton 0 AAGCTGGGGTCGCCCTGCAAC 0.677 17 9 --- --- --- --- PASS C20orf29 55317 broad.mit.edu 37 20 3802836 3802836 + Silent SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:3802836G>C uc002wjs.1 + 2 250 c.72G>C c.(70-72)CTG>CTC p.L24L C20orf29_uc002wjt.2_5'UTR|C20orf29_uc002wju.1_Silent_p.L24L NM_018347 NP_060817 Q9NUS5 CT029_HUMAN hypothetical protein LOC55317 24 double-strand break repair via homologous recombination protein binding skin(1) 1 GCCGAGTGCTGTACTCCTGCG 0.602 38 33 --- --- --- --- PASS PROKR2 128674 broad.mit.edu 37 20 5283322 5283322 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:5283322C>A uc010zqw.1 - 2 519 c.519G>T c.(517-519)CTG>CTT p.L173L PROKR2_uc010zqx.1_Silent_p.L173L|PROKR2_uc010zqy.1_Silent_p.L173L NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 173 Helical; Name=4; (Potential). L -> R (in KAL3). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 CCAAGGCGATCAGGAAGGAGG 0.488 HNSCC(71;0.22) 89 98 --- --- --- --- PASS BMP2 650 broad.mit.edu 37 20 6750875 6750875 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:6750875G>T uc002wmu.1 + 2 887 c.102G>T c.(100-102)GCG>GCT p.A34A NM_001200 NP_001191 P12643 BMP2_HUMAN bone morphogenetic protein 2 preproprotein 34 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding ovary(1)|breast(1) 2 Simvastatin(DB00641) GGAAGTTCGCGGCGGCGTCGT 0.687 4 2 --- --- --- --- PASS CSTL1 128817 broad.mit.edu 37 20 23424651 23424651 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:23424651C>A uc002wte.2 + 3 546 c.300C>A c.(298-300)TCC>TCA p.S100S CSTL1_uc010zsu.1_RNA|CSTL1_uc010zsv.1_RNA NM_138283 NP_612140 Q9H114 CST1L_HUMAN cystatin-like 1 precursor 100 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0993)|Lung NSC(19;0.235) GCAATTCTTCCTGCCCCCTGC 0.468 13 22 --- --- --- --- PASS CST11 140880 broad.mit.edu 37 20 23433221 23433221 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:23433221C>A uc002wtf.1 - 1 262 c.228G>T c.(226-228)CAG>CAT p.Q76H CST11_uc002wtg.1_Missense_Mutation_p.Q76H NM_130794 NP_570612 Q9H112 CST11_HUMAN cystatin 11 isoform 1 precursor 76 Secondary area of contact (Potential). defense response to bacterium cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) ATACACTCACCTGCCTCTGGA 0.527 48 34 --- --- --- --- PASS NANP 140838 broad.mit.edu 37 20 25596915 25596915 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:25596915C>A uc002wuy.2 - 2 457 c.393G>T c.(391-393)ACG>ACT p.T131T NM_152667 NP_689880 Q8TBE9 NANP_HUMAN N-acetylneuraminic acid phosphatase 131 Substrate binding. N-acetylneuraminate biosynthetic process N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity 0 TGTCCCCATTCGTTAATAGAA 0.473 4 106 --- --- --- --- PASS REM1 28954 broad.mit.edu 37 20 30070204 30070204 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:30070204C>A uc002wwa.2 + 4 822 c.538C>A c.(538-540)CGG>AGG p.R180R NM_014012 NP_054731 O75628 REM1_HUMAN RAS-like GTP-binding protein REM 180 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity lung(2)|pancreas(2) 4 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CATCCAGCTGCGGCGCACACA 0.607 63 42 --- --- --- --- PASS PLUNC 51297 broad.mit.edu 37 20 31828181 31828181 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:31828181C>A uc002wyv.2 + 5 641 c.571C>A c.(571-573)CTG>ATG p.L191M PLUNC_uc002wyt.3_Missense_Mutation_p.L191M|PLUNC_uc002wyu.3_Missense_Mutation_p.L191M NM_130852 NP_570913 Q9NP55 PLUNC_HUMAN palate, lung and nasal epithelium associated 191 innate immune response extracellular region lipid binding 0 GCAAATTTCTCTGCTTGATGG 0.517 115 128 --- --- --- --- PASS MYH7B 57644 broad.mit.edu 37 20 33585348 33585348 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:33585348C>A uc002xbi.1 + 30 3870 c.3778C>A c.(3778-3780)CAG>AAG p.Q1260K NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 1218 Potential. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) GGACAGCCTGCAGCGGGTGCG 0.706 7 3 --- --- --- --- PASS RBL1 5933 broad.mit.edu 37 20 35635932 35635932 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:35635932C>G uc002xgi.2 - 20 2832 c.2753G>C c.(2752-2754)TGT>TCT p.C918S RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.C918S NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 918 Domain B.|Pocket; binds T and E1A. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) TCCACTGGAACAGTCAGGTGT 0.294 36 44 --- --- --- --- PASS IFT52 51098 broad.mit.edu 37 20 42242569 42242569 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:42242569G>C uc002xkw.2 + 7 687 c.565G>C c.(565-567)GTC>CTC p.V189L IFT52_uc010zwi.1_RNA|IFT52_uc002xky.2_Missense_Mutation_p.V189L|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.V165L|IFT52_uc002xkz.2_Missense_Mutation_p.V189L NM_016004 NP_057088 Q9Y366 IFT52_HUMAN intraflagellar transport 52 homolog 189 intraflagellar transport particle B|microtubule-based flagellum protein C-terminus binding ovary(2) 2 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TACAGGTTCTGTCTGCTTCCC 0.388 43 40 --- --- --- --- PASS GDAP1L1 78997 broad.mit.edu 37 20 42885970 42885970 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:42885970C>A uc002xlq.2 + 2 425 c.358C>A c.(358-360)CGC>AGC p.R120S GDAP1L1_uc002xlp.1_Missense_Mutation_p.R120S|GDAP1L1_uc010zwl.1_Missense_Mutation_p.R120S|GDAP1L1_uc010zwm.1_Missense_Mutation_p.R120S|GDAP1L1_uc010zwn.1_Intron NM_024034 NP_076939 Q96MZ0 GD1L1_HUMAN ganglioside-induced differentiation-associated 120 GST N-terminal. large_intestine(1) 1 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CTATGTGGAGCGCACCTTCAC 0.607 24 22 --- --- --- --- PASS ZSWIM3 140831 broad.mit.edu 37 20 44506325 44506325 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:44506325G>T uc002xqd.2 + 2 1331 c.1128G>T c.(1126-1128)CTG>CTT p.L376L ZSWIM3_uc010zxg.1_Silent_p.L370L NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM domain containing 3 376 zinc ion binding ovary(2) 2 Myeloproliferative disorder(115;0.0122) GTGAACTGCTGTGGTACATGC 0.532 41 29 --- --- --- --- PASS MMP9 4318 broad.mit.edu 37 20 44645004 44645004 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:44645004C>A uc002xqz.2 + 13 2140 c.2121C>A c.(2119-2121)GAC>GAA p.D707E NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 707 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) GCCCTGAGGACTAGGGCTCCC 0.577 20 27 --- --- --- --- PASS SLC12A5 57468 broad.mit.edu 37 20 44671797 44671797 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:44671797C>A uc010zxl.1 + 9 1217 c.1141C>A c.(1141-1143)CTC>ATC p.L381I SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.L358I NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 381 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CACAGAGAACCTCTGGAGCTC 0.607 92 76 --- --- --- --- PASS SLC12A5 57468 broad.mit.edu 37 20 44685005 44685005 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:44685005T>A uc010zxl.1 + 23 3057 c.2981T>A c.(2980-2982)GTG>GAG p.V994E SLC12A5_uc002xrb.2_Missense_Mutation_p.V971E NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 994 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) ATCCCTCAGGTGCAGCTGATC 0.632 19 11 --- --- --- --- PASS EYA2 2139 broad.mit.edu 37 20 45702822 45702822 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:45702822C>A uc002xsm.2 + 7 883 c.509C>A c.(508-510)CCC>CAC p.P170H EYA2_uc010ghp.2_Missense_Mutation_p.P170H|EYA2_uc002xsn.2_Missense_Mutation_p.P175H|EYA2_uc002xso.2_Missense_Mutation_p.P170H|EYA2_uc002xsp.2_Missense_Mutation_p.P170H|EYA2_uc002xsq.2_Missense_Mutation_p.P170H NM_005244 NP_005235 O00167 EYA2_HUMAN eyes absent 2 isoform a 170 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity ovary(1) 1 Myeloproliferative disorder(115;0.0241) CCCGGCTTCCCCCAGAGCCAG 0.597 69 48 --- --- --- --- PASS SULF2 55959 broad.mit.edu 37 20 46294641 46294641 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:46294641A>G uc002xto.2 - 13 2192 c.1862T>C c.(1861-1863)CTG>CCG p.L621P SULF2_uc002xtr.2_Missense_Mutation_p.L621P|SULF2_uc002xtq.2_Missense_Mutation_p.L621P|SULF2_uc010zyd.1_5'Flank NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 621 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CCAGGCCTGCAGGGACTTGTA 0.617 47 50 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47444245 47444245 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:47444245G>A uc002xtw.1 - 1 176 c.153C>T c.(151-153)CTC>CTT p.L51L NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 51 DH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TGAGGACGCAGAGGCGGAGGC 0.413 14 6 --- --- --- --- PASS FAM65C 140876 broad.mit.edu 37 20 49221208 49221208 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:49221208G>T uc002xvm.2 - 12 1366 c.1048C>A c.(1048-1050)CCC>ACC p.P350T FAM65C_uc010zyt.1_Missense_Mutation_p.P354T|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.P350T NM_080829 NP_543019 Q96MK2 FA65C_HUMAN hypothetical protein LOC140876 350 ovary(2) 2 CGGAAGCTGGGGGTGCTCGGG 0.632 30 28 --- --- --- --- PASS SALL4 57167 broad.mit.edu 37 20 50401059 50401059 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:50401059C>A uc002xwh.3 - 4 3008 c.2907G>T c.(2905-2907)TGG>TGT p.W969C SALL4_uc010gii.2_Missense_Mutation_p.W532C|SALL4_uc002xwi.3_Missense_Mutation_p.W192C NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 969 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TGTACTGGTTCCACACAACAG 0.532 63 69 --- --- --- --- PASS ZFP64 55734 broad.mit.edu 37 20 50769287 50769287 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:50769287C>G uc002xwl.2 - 6 1793 c.1444G>C c.(1444-1446)GTG>CTG p.V482L ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.V480L|ZFP64_uc002xwn.2_Missense_Mutation_p.V428L NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 482 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 TGGAGGGGCACCTGGAGGTGT 0.607 17 37 --- --- --- --- PASS TSHZ2 128553 broad.mit.edu 37 20 51872902 51872902 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:51872902C>G uc002xwo.2 + 2 3861 c.2905C>G c.(2905-2907)CAA>GAA p.Q969E NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 969 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) CAAGGTGGAGCAAGAGATCTC 0.502 26 38 --- --- --- --- PASS RAE1 8480 broad.mit.edu 37 20 55943782 55943782 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:55943782G>C uc002xyg.2 + 8 897 c.556G>C c.(556-558)GCA>CCA p.A186P RAE1_uc010gis.1_Missense_Mutation_p.A139P|RAE1_uc010git.1_Missense_Mutation_p.A186P|RAE1_uc002xyh.2_Missense_Mutation_p.A186P|RAE1_uc002xyi.2_Missense_Mutation_p.A186P NM_003610 NP_003601 P78406 RAE1L_HUMAN RAE1 (RNA export 1, S.pombe) homolog 186 WD 3. 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) GGCTGTGGTGGCAACTGCAGA 0.433 24 98 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 20 56063719 56063719 + Missense_Mutation SNP A G G rs62618695 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:56063719A>G uc010zzl.1 - 1 365 c.365T>C c.(364-366)ATT>ACT p.I122T NM_001008735 NP_001008735 high-mobility group box 1-like 1 AACATCACCAATGGACAGGCC 0.488 47 172 --- --- --- --- PASS APCDD1L 164284 broad.mit.edu 37 20 57035882 57035882 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:57035882G>T uc002xze.1 - 4 1656 c.1470C>A c.(1468-1470)CCC>CCA p.P490P APCDD1L_uc010zzp.1_Silent_p.P501P NM_153360 NP_699191 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 490 Helical; (Potential). 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) CTAGAACTAGGGGCAGAAGTG 0.617 39 48 --- --- --- --- PASS TUBB1 81027 broad.mit.edu 37 20 57599252 57599252 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:57599252T>C uc002yak.2 + 4 1039 c.770T>C c.(769-771)ATG>ACG p.M257T NM_030773 NP_110400 Q9H4B7 TBB1_HUMAN beta tubulin 1, class VI 257 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity ovary(1) 1 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) GCGGTGAACATGGTCCCCTTC 0.642 27 78 --- --- --- --- PASS SLMO2 51012 broad.mit.edu 37 20 57611616 57611616 + Silent SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:57611616T>A uc002yam.2 - 5 491 c.375A>T c.(373-375)ACA>ACT p.T125T SLMO2_uc010zzv.1_Silent_p.T95T NM_016045 NP_057129 Q9Y3B1 SLMO2_HUMAN slowmo homolog 2 125 PRELI/MSF1. skin(1) 1 all_lung(29;0.00711) Colorectal(105;0.109) TGGCTTCTTGTGTCAAAACAG 0.383 42 172 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57767530 57767530 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:57767530C>A uc002yan.2 + 1 1456 c.1456C>A c.(1456-1458)CAC>AAC p.H486N NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 486 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CCTCTTCTTCCACTCCGTCCC 0.687 18 62 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57768676 57768676 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:57768676G>T uc002yan.2 + 1 2602 c.2602G>T c.(2602-2604)GGC>TGC p.G868C NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 868 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GGTGCCAGGGGGCTCAAAGGA 0.657 23 88 --- --- --- --- PASS PHACTR3 116154 broad.mit.edu 37 20 58330353 58330353 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:58330353G>A uc002yau.2 + 4 942 c.475G>A c.(475-477)GCC>ACC p.A159T PHACTR3_uc002yat.2_Missense_Mutation_p.A156T|PHACTR3_uc010zzw.1_Missense_Mutation_p.A118T|PHACTR3_uc002yav.2_Missense_Mutation_p.A118T|PHACTR3_uc002yaw.2_Missense_Mutation_p.A118T|PHACTR3_uc002yax.2_Missense_Mutation_p.A118T NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 159 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) AAGCCCCTTGGCCACTGGGAC 0.612 18 57 --- --- --- --- PASS PHACTR3 116154 broad.mit.edu 37 20 58342374 58342374 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:58342374G>T uc002yau.2 + 5 1142 c.675G>T c.(673-675)GTG>GTT p.V225V PHACTR3_uc002yat.2_Silent_p.V222V|PHACTR3_uc010zzw.1_Silent_p.V184V|PHACTR3_uc002yav.2_Silent_p.V184V|PHACTR3_uc002yaw.2_Silent_p.V184V|PHACTR3_uc002yax.2_Intron NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 225 Pro-rich. nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) AGAGATCCGTGGGCCAGCTCC 0.627 36 93 --- --- --- --- PASS CDH4 1002 broad.mit.edu 37 20 60318840 60318840 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:60318840C>A uc002ybn.1 + 3 405 c.391C>A c.(391-393)CAC>AAC p.H131N CDH4_uc002ybo.1_RNA|CDH4_uc002ybp.1_Missense_Mutation_p.H57N NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 131 adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GCACTCTGGACACAAGGTAAG 0.642 8 24 --- --- --- --- PASS CDH4 1002 broad.mit.edu 37 20 60427941 60427941 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:60427941G>A uc002ybn.1 + 6 878 c.864G>A c.(862-864)GAG>GAA p.E288E CDH4_uc002ybp.1_Silent_p.E214E NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 288 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CCGTGGACGAGGGCTCCAAGC 0.592 93 339 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61522319 61522319 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:61522319C>A uc002ydr.1 - 15 3798 c.3534G>T c.(3532-3534)GAG>GAT p.E1178D DIDO1_uc002yds.1_Missense_Mutation_p.E1178D|DIDO1_uc002ydt.1_Missense_Mutation_p.E1178D|DIDO1_uc002ydu.1_Missense_Mutation_p.E1178D NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1178 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TACCTGGTCCCTCAAAGGGCA 0.602 40 126 --- --- --- --- PASS PRIC285 85441 broad.mit.edu 37 20 62192805 62192805 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:62192805T>A uc002yfm.2 - 14 7743 c.6851A>T c.(6850-6852)CAC>CTC p.H2284L PRIC285_uc002yfl.1_Missense_Mutation_p.H1715L NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 2284 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) GATCCGGTGGTGCAGGGTGAT 0.637 103 177 --- --- --- --- PASS PRIC285 85441 broad.mit.edu 37 20 62196727 62196727 + Missense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr20:62196727C>T uc002yfm.2 - 9 4340 c.3448G>A c.(3448-3450)GCC>ACC p.A1150T PRIC285_uc002yfl.1_Missense_Mutation_p.A581T NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 1150 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) CCCGAGGAGGCATCGTCCAGC 0.687 4 11 --- --- --- --- PASS USP25 29761 broad.mit.edu 37 21 17191131 17191131 + Missense_Mutation SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr21:17191131T>C uc002yjy.1 + 10 1263 c.1046T>C c.(1045-1047)TTA>TCA p.L349S USP25_uc011aby.1_Missense_Mutation_p.L349S|USP25_uc002yjz.1_Missense_Mutation_p.L349S|USP25_uc010gla.1_Intron NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 349 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3)|liver(2) 5 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) ATTGAGTCTTTACATTCAGAG 0.403 47 238 --- --- --- --- PASS ADAMTS5 11096 broad.mit.edu 37 21 28305220 28305220 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr21:28305220G>T uc002ymg.2 - 5 2562 c.1833C>A c.(1831-1833)GCC>GCA p.A611A NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 611 TSP type-1 1. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 AGCGGTAGATGGCCCTCTTCC 0.522 30 17 --- --- --- --- PASS KRTAP13-1 140258 broad.mit.edu 37 21 31768661 31768661 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr21:31768661C>A uc002yoa.2 + 1 270 c.257C>A c.(256-258)TCC>TAC p.S86Y NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 86 5 X 10 AA approximate repeats. intermediate filament ovary(1) 1 CCCAGAACCTCCTTGCTCTGC 0.602 51 38 --- --- --- --- PASS KRTAP6-1 337966 broad.mit.edu 37 21 31986182 31986182 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr21:31986182G>T uc002yop.2 - 1 42 c.42C>A c.(40-42)GGC>GGA p.G14G KRTAP20-1_uc011ade.1_5'Flank NM_181602 NP_853633 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 14 cytosol|intermediate filament 0 AGAACCCATAGCCAGGGGTGC 0.567 70 43 --- --- --- --- PASS TIAM1 7074 broad.mit.edu 37 21 32639255 32639255 + Missense_Mutation SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr21:32639255C>G uc002yow.1 - 5 506 c.34G>C c.(34-36)GAG>CAG p.E12Q TIAM1_uc011adk.1_Missense_Mutation_p.E12Q|TIAM1_uc011adl.1_Missense_Mutation_p.E12Q|TIAM1_uc002yox.1_Intron NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 12 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 CCATAAAACTCGTGCTCTACA 0.552 35 31 --- --- --- --- PASS HUNK 30811 broad.mit.edu 37 21 33331214 33331214 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr21:33331214G>T uc002yph.2 + 5 1166 c.806G>T c.(805-807)AGC>ATC p.S269I NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 269 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 GAGCCTTTCAGCCTGAGGGCT 0.522 121 64 --- --- --- --- PASS C21orf63 59271 broad.mit.edu 37 21 33840109 33840109 + Missense_Mutation SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr21:33840109A>T uc002ypr.1 + 4 997 c.587A>T c.(586-588)CAG>CTG p.Q196L C21orf63_uc002ypq.1_Missense_Mutation_p.Q196L|C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.Q196L|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.Q101L NM_058187 NP_478067 P58658 CU063_HUMAN hypothetical protein LOC59271 precursor 196 SUEL-type lectin 2.|Extracellular (Potential). integral to membrane sugar binding ovary(2)|pancreas(1) 3 AGGAGGACCCAGGAAAGGGAC 0.428 42 29 --- --- --- --- PASS SLC5A3 6526 broad.mit.edu 37 21 35468733 35468733 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr21:35468733G>T uc002yto.2 + 2 1748 c.1236G>T c.(1234-1236)AGG>AGT p.R412S MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN solute carrier family 5 (inositol transporters), 412 Helical; (Potential). integral to plasma membrane myo-inositol:sodium symporter activity ovary(2) 2 TTGTGGGGAGGATATTTGTGG 0.473 62 57 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 41385199 41385199 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr21:41385199C>A uc002yyq.1 - 33 6253 c.5801G>T c.(5800-5802)AGC>ATC p.S1934I DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1934 Cytoplasmic (Potential). HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CAGGGTCCGGCTTTTCTGAGG 0.607 47 35 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 41684139 41684139 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr21:41684139G>A uc002yyq.1 - 9 2383 c.1931C>T c.(1930-1932)ACC>ATC p.T644I DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 644 Extracellular (Potential).|Ig-like C2-type 7. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATTGTCAATGGTCACCCCAAG 0.557 48 50 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 41711138 41711138 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr21:41711138G>T uc002yyq.1 - 7 1867 c.1415C>A c.(1414-1416)TCC>TAC p.S472Y DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 472 Extracellular (Potential).|Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTGGGAGCTGGAGATGTTCAG 0.597 56 43 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 41741060 41741060 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr21:41741060C>G uc002yyq.1 - 4 1073 c.621G>C c.(619-621)ACG>ACC p.T207T DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 207 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGCTCTGCCTCGTCTCTCCGG 0.448 70 45 --- --- --- --- PASS C21orf128 150147 broad.mit.edu 37 21 43528457 43528457 + Silent SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr21:43528457A>T uc002zak.2 - 1 188 c.36T>A c.(34-36)GCT>GCA p.A12A UMODL1_uc002zad.1_Intron|UMODL1_uc002zae.1_Intron|UMODL1_uc002zaf.1_Intron|UMODL1_uc002zag.1_Intron NR_027243 RecName: Full=Uncharacterized protein C21orf128; 0 GGTTGGCACCAGCAGTGTTCT 0.612 11 7 --- --- --- --- PASS DNMT3L 29947 broad.mit.edu 37 21 45679433 45679433 + Splice_Site SNP C A A rs35786892 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr21:45679433C>A uc002zeg.1 - 5 716 c.232_splice c.e5-1 p.D78_splice DNMT3L_uc002zeh.1_Splice_Site_p.D78_splice NM_175867 NP_787063 Q9UJW3 DNM3L_HUMAN cytosine-5-methyltransferase 3-like protein DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding skin(2) 2 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) GGAACTTGTCCTTGGAAGGAG 0.587 69 41 --- --- --- --- PASS POTEH 23784 broad.mit.edu 37 22 16287481 16287481 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:16287481C>A uc010gqp.2 - 1 457 c.405G>T c.(403-405)ATG>ATT p.M135I POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 135 skin(1) 1 ACCACTTGCCCATCTTGCTCC 0.617 60 195 --- --- --- --- PASS GAB4 128954 broad.mit.edu 37 22 17446085 17446085 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:17446085C>A uc002zlw.2 - 7 1470 c.1362G>T c.(1360-1362)GAG>GAT p.E454D NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 454 large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) CAGACCAGGGCTCTGTGACAG 0.567 37 28 --- --- --- --- PASS CECR5 27440 broad.mit.edu 37 22 17619154 17619154 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:17619154C>A uc002zmf.2 - 8 1057 c.1029G>T c.(1027-1029)GGG>GGT p.G343G CECR5_uc002zmd.2_Silent_p.G154G|CECR5_uc002zme.2_Silent_p.G135G|CECR5_uc002zmg.2_Silent_p.G143G|CECR5_uc002zmh.2_Silent_p.G313G NM_033070 NP_149061 Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 343 hydrolase activity 0 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) GCCGTGTGCCCCCGGCCCCTA 0.602 28 32 --- --- --- --- PASS TXNRD2 10587 broad.mit.edu 37 22 19885649 19885649 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:19885649C>A uc011ahc.1 - 10 720 c.687G>T c.(685-687)GTG>GTT p.V229V TXNRD2_uc002zql.1_5'UTR|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.V228V|TXNRD2_uc010grv.1_Silent_p.V229V|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqs.2_Silent_p.V197V NM_006440 NP_006431 Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 precursor 229 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity ovary(2) 2 Colorectal(54;0.0993) ACTCCAGGGCCACATCTGTGG 0.612 3 4 --- --- --- --- PASS RTDR1 27156 broad.mit.edu 37 22 23406114 23406114 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:23406114G>T uc002zwt.2 - 5 777 c.619C>A c.(619-621)CGC>AGC p.R207S NM_014433 NP_055248 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region protein 1 207 binding ovary(1) 1 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) GCCTTGCTGCGGATGTTCTGG 0.622 30 19 --- --- --- --- PASS SGSM1 129049 broad.mit.edu 37 22 25308718 25308718 + Missense_Mutation SNP A C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:25308718A>C uc003abg.2 + 23 3249 c.3092A>C c.(3091-3093)CAG>CCG p.Q1031P SGSM1_uc003abh.2_Missense_Mutation_p.Q970P|SGSM1_uc010guu.1_Missense_Mutation_p.Q976P|SGSM1_uc003abj.2_Missense_Mutation_p.Q915P|SGSM1_uc003abi.1_Missense_Mutation_p.Q951P NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN RUN and TBC1 domain containing 2 isoform 1 1031 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1) 5 TCGTTGATCCAGGTATGACCC 0.378 8 17 --- --- --- --- PASS SEZ6L 23544 broad.mit.edu 37 22 26706681 26706681 + Nonsense_Mutation SNP C A A rs147602140 by1000genomes TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:26706681C>A uc003acb.2 + 7 1716 c.1560C>A c.(1558-1560)TAC>TAA p.Y520* SEZ6L_uc003acc.2_Nonsense_Mutation_p.Y520*|SEZ6L_uc011akc.1_Nonsense_Mutation_p.Y520*|SEZ6L_uc003acd.2_Nonsense_Mutation_p.Y520*|SEZ6L_uc011akd.1_Nonsense_Mutation_p.Y520*|SEZ6L_uc003ace.2_Nonsense_Mutation_p.Y520*|SEZ6L_uc003acf.1_Nonsense_Mutation_p.Y293*|SEZ6L_uc010gvc.1_Nonsense_Mutation_p.Y293* NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 520 CUB 2.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 CTCTTCTCTACGACTCCCTTC 0.597 87 72 --- --- --- --- PASS NF2 4771 broad.mit.edu 37 22 30070892 30070892 + Nonsense_Mutation SNP C T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:30070892C>T uc003age.3 + 13 1851 c.1408C>T c.(1408-1410)CAG>TAG p.Q470* NF2_uc003afy.3_Nonsense_Mutation_p.Q470*|NF2_uc003afz.3_Nonsense_Mutation_p.Q387*|NF2_uc003agf.3_Nonsense_Mutation_p.Q470*|NF2_uc003agb.3_Nonsense_Mutation_p.Q393*|NF2_uc003agc.3_Nonsense_Mutation_p.Q432*|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Nonsense_Mutation_p.Q470*|NF2_uc003aga.3_Nonsense_Mutation_p.Q428*|NF2_uc003agh.3_Nonsense_Mutation_p.Q429*|NF2_uc003agi.3_Nonsense_Mutation_p.Q387*|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Nonsense_Mutation_p.Q432*|NF2_uc010gvp.2_Nonsense_Mutation_p.Q134*|NF2_uc011akq.1_Nonsense_Mutation_p.Q96* NM_000268 NP_000259 P35240 MERL_HUMAN neurofibromin 2 isoform 1 470 actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(2)|p.Q470L(1)|p.Q459fs*25(1)|p.Q470*(1)|p.Q470fs*15(1)|p.A464fs*24(1) meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1) 728 AAGAGCCAAGCAGAAGCTCCT 0.607 D|Mis|N|F|S|O meningioma|acoustic neuroma|renal meningioma|acoustic neuroma Neurofibromatosis_type_2 4 5 --- --- --- --- PASS OSM 5008 broad.mit.edu 37 22 30659938 30659938 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:30659938C>A uc003ahb.2 - 3 745 c.693G>T c.(691-693)GGG>GGT p.G231G NM_020530 NP_065391 P13725 ONCM_HUMAN oncostatin M precursor 231 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding skin(1) 1 Epithelial(10;0.206) TCCTGCGCACCCCCTTCCTCA 0.662 95 63 --- --- --- --- PASS PATZ1 23598 broad.mit.edu 37 22 31724897 31724897 + Silent SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:31724897G>C uc003akq.2 - 4 2182 c.1521C>G c.(1519-1521)GCC>GCG p.A507A PATZ1_uc003akp.2_Intron|PATZ1_uc003akr.2_Intron NM_014323 NP_055138 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 507 C2H2-type 6. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) soft_tissue(2) 2 TTAAGTAGGAGGCAGAGGAGA 0.567 12 31 --- --- --- --- PASS C22orf42 150297 broad.mit.edu 37 22 32555175 32555175 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:32555175C>A uc003amd.2 - 1 69 c.28G>T c.(28-30)GGC>TGC p.G10C NM_001010859 NP_001010859 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 10 ovary(1)|skin(1) 2 CCGCTGGGGCCCAGGCAGCAA 0.572 38 46 --- --- --- --- PASS LGALS2 3957 broad.mit.edu 37 22 37966599 37966599 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:37966599G>T uc003ata.2 - 3 345 c.233C>A c.(232-234)CCA>CAA p.P78Q NM_006498 NP_006489 P05162 LEG2_HUMAN lectin, galactoside-binding, soluble, 2 78 Galectin. breast(1)|skin(1) 2 Melanoma(58;0.0574) CTCTGACCCTGGGCTGAAGCA 0.577 96 88 --- --- --- --- PASS CYP2D6 1565 broad.mit.edu 37 22 42526796 42526796 + Translation_Start_Site SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:42526796C>A uc003bce.2 - 1 88 c.-2G>T c.(-4-0)CAGGT>CATGT uc003bcd.1_Intron|CYP2D6_uc010gyu.2_5'Flank|CYP2D6_uc003bcf.2_Translation_Start_Site NM_000106 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen breast(1)|skin(1) 2 AGCCCCATACCTGCCTCACTA 0.642 2 5 --- --- --- --- PASS ATXN10 25814 broad.mit.edu 37 22 46085626 46085626 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:46085626C>A uc003bgm.1 + 2 408 c.151C>A c.(151-153)CTG>ATG p.L51M ATXN10_uc011aqt.1_Intron|ATXN10_uc003bgn.1_Translation_Start_Site NM_013236 NP_037368 Q9UBB4 ATX10_HUMAN ataxin 10 51 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm ovary(1)|kidney(1) 2 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) CCAAAGAGTTCTGGATATCCT 0.388 63 45 --- --- --- --- PASS GTSE1 51512 broad.mit.edu 37 22 46704301 46704301 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:46704301G>A uc011aqy.1 + 4 435 c.223G>A c.(223-225)GTT>ATT p.V75I GTSE1_uc011aqz.1_5'UTR NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 56 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) AAATAATCCGGTTCCCGAACA 0.463 134 109 --- --- --- --- PASS TBC1D22A 25771 broad.mit.edu 37 22 47507500 47507500 + Splice_Site SNP G T T rs147421684 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:47507500G>T uc003bib.2 + 12 1560 c.1425_splice c.e12+1 p.Q475_splice TBC1D22A_uc010haf.2_Splice_Site_p.Q445_splice|TBC1D22A_uc003bic.2_Splice_Site_p.Q416_splice|TBC1D22A_uc003bie.2_Splice_Site_p.Q397_splice|TBC1D22A_uc003bid.2_Splice_Site|TBC1D22A_uc010hag.2_Splice_Site|TBC1D22A_uc003bif.2_Splice_Site_p.Q428_splice NM_014346 NP_055161 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A intracellular protein homodimerization activity|Rab GTPase activator activity ovary(1) 1 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) AGATTTTCAAGTAAGTAAATG 0.373 26 27 --- --- --- --- PASS BRD1 23774 broad.mit.edu 37 22 50216964 50216964 + Silent SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:50216964G>C uc003biv.2 - 1 1489 c.1002C>G c.(1000-1002)GGC>GGG p.G334G BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Silent_p.G334G|BRD1_uc011arh.1_Silent_p.G334G|BRD1_uc003biu.3_Silent_p.G334G NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 334 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGGCACCCACGCCCTTCTGCT 0.562 86 76 --- --- --- --- PASS TTLL8 164714 broad.mit.edu 37 22 50470358 50470358 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:50470358G>T uc011ark.1 - 11 1464 c.1464C>A c.(1462-1464)GCC>GCA p.A488A NM_001080447 NP_001073916 tubulin tyrosine ligase-like family, member 8 ovary(2) 2 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) TCATGGCGTGGGCGATGGCCT 0.642 22 20 --- --- --- --- PASS MOV10L1 54456 broad.mit.edu 37 22 50547090 50547090 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:50547090G>C uc003bjj.2 + 5 643 c.560G>C c.(559-561)TGC>TCC p.C187S MOV10L1_uc003bjk.3_Missense_Mutation_p.C187S|MOV10L1_uc011arp.1_Missense_Mutation_p.C167S NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 187 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TCCCAGGTCTGCATCTCTAGC 0.557 63 54 --- --- --- --- PASS SHANK3 85358 broad.mit.edu 37 22 51160523 51160523 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:51160523C>A uc003bne.1 + 22 4310 c.4310C>A c.(4309-4311)CCG>CAG p.P1437Q SHANK3_uc003bnf.1_Missense_Mutation_p.P884Q|SHANK3_uc010hbg.1_Missense_Mutation_p.P619Q NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1437 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CTCAAGTCCCCGCTGGGGAAG 0.652 6 8 --- --- --- --- PASS CSF2RA 1438 broad.mit.edu 37 X 1404669 1404669 + Splice_Site SNP A T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:1404669A>T uc010nct.2 + 5 399 c.77_splice c.e5-2 p.D26_splice CSF2RA_uc011mhb.1_Splice_Site_p.D26_splice|CSF2RA_uc004cpq.2_Splice_Site_p.D26_splice|CSF2RA_uc004cpn.2_Splice_Site_p.D26_splice|CSF2RA_uc004cpo.2_Splice_Site_p.D26_splice|CSF2RA_uc010ncu.2_Splice_Site|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Splice_Site_p.D26_splice|CSF2RA_uc010ncv.2_Splice_Site_p.D26_splice|CSF2RA_uc004cpr.2_Splice_Site_p.D26_splice NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 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) CGCTCCTTGCAGATCTGCGAA 0.323 17 43 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3236019 3236019 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:3236019C>A uc004crg.3 - 6 5860 c.5703G>T c.(5701-5703)AGG>AGT p.R1901S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1901 Ig-like C2-type 3. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) ACCGTTGTATCCTGGTATTCG 0.453 17 14 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3240743 3240743 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:3240743C>A uc004crg.3 - 5 3140 c.2983G>T c.(2983-2985)GAA>TAA p.E995* NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 995 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) AAGGTGTCTTCTTTCATCTTA 0.468 38 37 --- --- --- --- PASS NLGN4X 57502 broad.mit.edu 37 X 5810954 5810954 + Silent SNP T G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:5810954T>G uc010ndh.2 - 6 2856 c.2355A>C c.(2353-2355)ACA>ACC p.T785T NLGN4X_uc004crp.2_Silent_p.T805T|NLGN4X_uc004crq.2_Silent_p.T785T|NLGN4X_uc010ndi.2_Silent_p.T822T|NLGN4X_uc004crr.2_Silent_p.T785T|NLGN4X_uc010ndj.2_Silent_p.T785T NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 785 Cytoplasmic (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TCCCCGTCAGTGTGTTTGGAA 0.517 23 19 --- --- --- --- PASS NLGN4X 57502 broad.mit.edu 37 X 5827147 5827147 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:5827147C>A uc010ndh.2 - 4 1260 c.759G>T c.(757-759)TCG>TCT p.S253S NLGN4X_uc004crp.2_Silent_p.S273S|NLGN4X_uc004crq.2_Silent_p.S253S|NLGN4X_uc010ndi.2_Silent_p.S290S|NLGN4X_uc004crr.2_Silent_p.S253S|NLGN4X_uc010ndj.2_Silent_p.S253S NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 253 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 CCCCAGCCCCCGAGCCAAAGA 0.582 14 30 --- --- --- --- PASS FANCB 2187 broad.mit.edu 37 X 14861980 14861980 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:14861980C>A uc004cwg.1 - 10 2557 c.2289G>T c.(2287-2289)TTG>TTT p.L763F FANCB_uc004cwh.1_Missense_Mutation_p.L763F NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 763 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) GTTCCTTCTCCAAAGTAAATG 0.363 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 40 36 --- --- --- --- PASS PRDX4 10549 broad.mit.edu 37 X 23685870 23685870 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:23685870G>T uc004dam.2 + 1 226 c.183G>T c.(181-183)CCG>CCT p.P61P NM_006406 NP_006397 Q13162 PRDX4_HUMAN peroxiredoxin 4 61 cell redox homeostasis|I-kappaB phosphorylation thioredoxin peroxidase activity upper_aerodigestive_tract(1) 1 AAGTGTACCCGGGAGAGGCAT 0.617 14 16 --- --- --- --- PASS PDK3 5165 broad.mit.edu 37 X 24544341 24544341 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:24544341G>C uc004dbg.2 + 7 929 c.700G>C c.(700-702)GTG>CTG p.V234L PDK3_uc004dbh.2_Missense_Mutation_p.V234L NM_005391 NP_005382 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase 3 isoform 2 234 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 ACCTATTCAGGTGGTTTATGT 0.358 13 23 --- --- --- --- PASS MAGEB6 158809 broad.mit.edu 37 X 26212737 26212737 + Missense_Mutation SNP C A A rs143373947 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:26212737C>A uc004dbr.2 + 2 923 c.774C>A c.(772-774)AGC>AGA p.S258R MAGEB6_uc010ngc.1_Missense_Mutation_p.S38R NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 258 MAGE. ovary(3) 3 TGGATTCCAGCGGCGAGTCCT 0.537 23 19 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31947805 31947805 + Nonsense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:31947805C>A uc004dda.1 - 47 7064 c.6820G>T c.(6820-6822)GGA>TGA p.G2274* DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Nonsense_Mutation_p.G930*|DMD_uc004dcx.2_Nonsense_Mutation_p.G933*|DMD_uc004dcz.2_Nonsense_Mutation_p.G2151*|DMD_uc004dcy.1_Nonsense_Mutation_p.G2270*|DMD_uc004ddb.1_Nonsense_Mutation_p.G2266*|DMD_uc010ngn.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2274 Spectrin 16. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ACGGGTCCTCCAGTTTCATTT 0.418 28 38 --- --- --- --- PASS DDX3X 1654 broad.mit.edu 37 X 41204663 41204663 + Missense_Mutation SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:41204663G>A uc004dfe.2 + 12 2032 c.1177G>A c.(1177-1179)GCT>ACT p.A393T DDX3X_uc004dff.2_Missense_Mutation_p.A393T|DDX3X_uc011mkq.1_Missense_Mutation_p.A377T|DDX3X_uc011mkr.1_Missense_Mutation_p.A393T|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 393 Necessary for interaction with XPO1.|Helicase ATP-binding. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 TCAGATGCTGGCTCGTGATTT 0.328 HNSCC(61;0.18) 26 21 --- --- --- --- PASS NYX 60506 broad.mit.edu 37 X 41333780 41333780 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:41333780C>A uc004dfh.2 + 2 1504 c.1074C>A c.(1072-1074)ACC>ACA p.T358T NYX_uc011mku.1_Silent_p.T353T NM_022567 NP_072089 Q9GZU5 NYX_HUMAN nyctalopin precursor 358 LRRCT. response to stimulus|visual perception intracellular|proteinaceous extracellular matrix lung(2) 2 GACGTGTCACCGACGTGCCGT 0.701 6 5 --- --- --- --- PASS NDP 4693 broad.mit.edu 37 X 43809127 43809127 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:43809127C>A uc004dga.3 - 3 899 c.320G>T c.(319-321)CGG>CTG p.R107L NM_000266 NP_000257 Q00604 NDP_HUMAN norrin precursor 107 CTCK. canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception extracellular matrix|extracellular space cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity 0 GCATCGCAGCCGCAGTGCCTT 0.612 OREG0019744 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 2 --- --- --- --- PASS SLC38A5 92745 broad.mit.edu 37 X 48317372 48317372 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:48317372C>A uc010nid.2 - 17 1544 c.1366G>T c.(1366-1368)GGC>TGC p.G456C SLC38A5_uc004djk.3_Missense_Mutation_p.G405C NM_033518 NP_277053 Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 456 Helical; (Potential). G -> S (in Ref. 1; AAK61856). cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane ovary(3) 3 AACATAAAGCCTAGACTGACG 0.612 8 8 --- --- --- --- PASS ERAS 3266 broad.mit.edu 37 X 48687893 48687893 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:48687893C>A uc004dky.1 + 1 611 c.360C>A c.(358-360)TTC>TTA p.F120L NM_181532 NP_853510 Q7Z444 RASE_HUMAN ES cell expressed Ras precursor 120 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity lung(4)|urinary_tract(1) 5 TGGGCGTCTTCGCTCTCGATG 0.632 83 30 --- --- --- --- PASS AKAP4 8852 broad.mit.edu 37 X 49958854 49958854 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:49958854G>A uc004dow.1 - 5 634 c.510C>T c.(508-510)AAC>AAT p.N170N AKAP4_uc004dov.1_Silent_p.N161N|AKAP4_uc010njp.1_5'UTR|AKAP4_uc004dou.1_Silent_p.N161N NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 170 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) TTTGAGGTCTGTTCATCAAAT 0.433 58 51 --- --- --- --- PASS MSN 4478 broad.mit.edu 37 X 64951020 64951020 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:64951020G>T uc004dwf.2 + 5 717 c.519G>T c.(517-519)CAG>CAT p.Q173H NM_002444 NP_002435 P26038 MOES_HUMAN moesin 173 FERM. leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1) 10 AGCGGATCCAGGTGTGGCATG 0.537 T ALK ALCL 7 6 --- --- --- --- PASS FAM155B 27112 broad.mit.edu 37 X 68749658 68749658 + Silent SNP C G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:68749658C>G uc004dxk.2 + 3 1326 c.1278C>G c.(1276-1278)CTC>CTG p.L426L NM_015686 NP_056501 O75949 F155B_HUMAN transmembrane protein 28 427 integral to membrane ovary(1)|breast(1) 2 GCTCCCGCCTCAGCCCTAGCA 0.532 29 9 --- --- --- --- PASS RGAG4 340526 broad.mit.edu 37 X 71350437 71350437 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:71350437C>A uc010nlh.1 - 1 1315 c.954G>T c.(952-954)CCG>CCT p.P318P NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA NM_001024455 NP_001019626 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 318 ovary(2)|skin(1) 3 Renal(35;0.156) CTCCAGGGAGCGGGATAGGCT 0.473 82 47 --- --- --- --- PASS TSIX 9383 broad.mit.edu 37 X 73045196 73045196 + RNA SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:73045196T>C uc004ebn.2 + 1 c.33157T>C XIST_uc004ebm.1_RNA NR_003255 Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA. 0 AGCACTTTTTTATGCTTGCTC 0.264 38 17 --- --- --- --- PASS TSIX 9383 broad.mit.edu 37 X 73046296 73046296 + RNA SNP T C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:73046296T>C uc004ebn.2 + 1 c.34257T>C XIST_uc004ebm.1_RNA NR_003255 Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA. 0 GCCTAACAAATAGGTAAAAGC 0.378 13 11 --- --- --- --- PASS TSIX 9383 broad.mit.edu 37 X 73047135 73047135 + RNA SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:73047135C>A uc004ebn.2 + 1 c.35096C>A XIST_uc004ebm.1_RNA NR_003255 Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA. 0 CACACACACACGTACACTTGC 0.463 93 27 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73071059 73071059 + RNA SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:73071059G>T uc004ebm.1 - 1 c.1530C>A NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 TTAACAATGCGGCAAGCCCGC 0.517 65 23 --- --- --- --- PASS ATP7A 538 broad.mit.edu 37 X 77284912 77284912 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:77284912G>T uc004ecx.3 + 15 3242 c.3082G>T c.(3082-3084)GGT>TGT p.G1028C NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1028 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 ACTAATAAAAGGTGGAGAGCC 0.473 66 30 --- --- --- --- PASS ZCCHC5 203430 broad.mit.edu 37 X 77913754 77913754 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:77913754G>T uc004edc.1 - 2 460 c.164C>A c.(163-165)TCC>TAC p.S55Y NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 55 nucleic acid binding|zinc ion binding ovary(1) 1 GGCCTCTGAGGACTTTCGGAG 0.567 21 13 --- --- --- --- PASS NAP1L3 4675 broad.mit.edu 37 X 92927476 92927476 + Silent SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:92927476T>A uc004efq.2 - 1 1133 c.828A>T c.(826-828)GCA>GCT p.A276A FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 276 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 TCTCTCTTACTGCAGCCCTTG 0.448 94 45 --- --- --- --- PASS BTK 695 broad.mit.edu 37 X 100611135 100611135 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:100611135G>C uc004ehg.2 - 15 1664 c.1471C>G c.(1471-1473)CAC>GAC p.H491D BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Missense_Mutation_p.H61D|BTK_uc010nnn.2_Intron|BTK_uc010nno.2_Missense_Mutation_p.H525D|BTK_uc004ehh.1_Intron|BTK_uc004ehi.2_Missense_Mutation_p.H491D NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 491 Protein kinase. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding p.H491Y(1) lung(3)|central_nervous_system(2)|ovary(1) 6 TGGAAGCGGTGGCGCATCTCC 0.557 Agammaglobulinemia_X-linked 56 29 --- --- --- --- PASS ARMCX5 64860 broad.mit.edu 37 X 101857624 101857624 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:101857624G>T uc004ejg.2 + 6 1436 c.555G>T c.(553-555)TGG>TGT p.W185C ARMCX5_uc004ejh.2_Missense_Mutation_p.W185C NM_022838 NP_073749 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 185 binding ovary(1) 1 TAGGGTCCTGGTTCTGGCCTG 0.468 85 50 --- --- --- --- PASS GPRASP1 9737 broad.mit.edu 37 X 101909360 101909360 + Silent SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:101909360G>C uc004ejj.3 + 5 1320 c.519G>C c.(517-519)GGG>GGC p.G173G GPRASP1_uc004eji.3_Silent_p.G173G|GPRASP1_uc010nod.2_Silent_p.G173G NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 173 cytoplasm protein binding ovary(1)|lung(1) 2 CCAATATGGGGTCCTGGTGCT 0.463 104 39 --- --- --- --- PASS H2BFWT 158983 broad.mit.edu 37 X 103268110 103268110 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:103268110C>A uc004elr.2 - 1 147 c.123G>T c.(121-123)CAG>CAT p.Q41H NM_001002916 NP_001002916 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 41 nucleosome assembly nuclear membrane|nucleosome DNA binding ovary(1) 1 GGGTGATCAGCTGTTCCTCAG 0.627 38 54 --- --- --- --- PASS CAPN6 827 broad.mit.edu 37 X 110491797 110491797 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:110491797C>A uc004epc.1 - 10 1652 c.1484G>T c.(1483-1485)AGG>ATG p.R495M CAPN6_uc011msu.1_Missense_Mutation_p.R240M NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 495 Domain III. 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 GAAACTGAACCTGAGCTGGAC 0.507 30 9 --- --- --- --- PASS ZCCHC16 340595 broad.mit.edu 37 X 111698734 111698734 + Missense_Mutation SNP C G G rs139116920 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:111698734C>G uc004epo.1 + 3 1219 c.778C>G c.(778-780)CGA>GGA p.R260G NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 260 nucleic acid binding|zinc ion binding ovary(1) 1 TATACAGCTGCGAGAAGGCCA 0.552 73 55 --- --- --- --- PASS KIAA1210 57481 broad.mit.edu 37 X 118223502 118223502 + Missense_Mutation SNP T A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:118223502T>A uc004era.3 - 11 1691 c.1691A>T c.(1690-1692)TAT>TTT p.Y564F NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 564 ovary(4)|skin(1) 5 GCCCAGGCCATACCCTTCACT 0.478 104 54 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123518504 123518504 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:123518504C>A uc004euj.2 - 29 6320 c.6256G>T c.(6256-6258)GAT>TAT p.D2086Y ODZ1_uc011muj.1_Missense_Mutation_p.D2092Y|ODZ1_uc010nqy.2_Missense_Mutation_p.D2093Y NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2086 YD 15.|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 TGATTTAAATCGTAATTAATT 0.363 77 39 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123870989 123870989 + Silent SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:123870989C>A uc004euj.2 - 4 658 c.594G>T c.(592-594)CCG>CCT p.P198P ODZ1_uc011muj.1_Silent_p.P198P|ODZ1_uc010nqy.2_Silent_p.P198P NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 198 Teneurin N-terminal.|Cytoplasmic (Potential).|Poly-Pro. 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 CATGAGGAGGCGGAGGTGGCG 0.572 44 18 --- --- --- --- PASS DCAF12L1 139170 broad.mit.edu 37 X 125686130 125686130 + Silent SNP G A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:125686130G>A uc004eul.2 - 1 713 c.462C>T c.(460-462)GCC>GCT p.A154A NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 154 WD 1. skin(3)|ovary(1) 4 TCAGCTCGATGGCATGGATGC 0.657 28 12 --- --- --- --- PASS DCAF12L1 139170 broad.mit.edu 37 X 125686131 125686131 + Missense_Mutation SNP G C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:125686131G>C uc004eul.2 - 1 712 c.461C>G c.(460-462)GCC>GGC p.A154G NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 154 WD 1. skin(3)|ovary(1) 4 CAGCTCGATGGCATGGATGCC 0.652 30 11 --- --- --- --- PASS SMARCA1 6594 broad.mit.edu 37 X 128630823 128630823 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:128630823C>A uc004eun.3 - 12 1643 c.1530G>T c.(1528-1530)CAG>CAT p.Q510H SMARCA1_uc004eup.3_Missense_Mutation_p.Q510H|SMARCA1_uc011muk.1_Missense_Mutation_p.Q510H|SMARCA1_uc011mul.1_Missense_Mutation_p.Q510H NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 510 Helicase C-terminal. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 AGCGAGTCATCTGGCTGAAAA 0.388 93 43 --- --- --- --- PASS ZNF280C 55609 broad.mit.edu 37 X 129394414 129394414 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:129394414C>A uc004evm.2 - 2 164 c.10G>T c.(10-12)GAC>TAC p.D4Y ZNF280C_uc010nrf.1_Missense_Mutation_p.D4Y NM_017666 NP_060136 Q8ND82 Z280C_HUMAN zinc finger protein 280C 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1) 3 AAAGGTTTGTCGTCATCCATG 0.343 3 110 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135431464 135431464 + Nonsense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:135431464G>T uc004ezu.1 + 6 5890 c.5599G>T c.(5599-5601)GGA>TGA p.G1867* GPR112_uc010nsb.1_Nonsense_Mutation_p.G1662*|GPR112_uc010nsc.1_Nonsense_Mutation_p.G1634* NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1867 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) TCCAGTTCTGGGAACAAGAAT 0.423 82 36 --- --- --- --- PASS CDR1 1038 broad.mit.edu 37 X 139866314 139866314 + Missense_Mutation SNP A G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:139866314A>G uc004fbg.1 - 1 410 c.218T>C c.(217-219)ATG>ACG p.M73T uc004fbf.1_RNA NM_004065 NP_004056 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 73 23 X 6 AA approximate repeats.|12. 0 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CCTCAAATCCATAGCTTCCGA 0.453 52 33 --- --- --- --- PASS MAGEC2 51438 broad.mit.edu 37 X 141291506 141291506 + Missense_Mutation SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:141291506C>A uc004fbu.1 - 3 616 c.268G>T c.(268-270)GGT>TGT p.G90C NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 90 Ser-rich. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) tgtggaggaccctgtggagga 0.418 HNSCC(46;0.14) 33 19 --- --- --- --- PASS MIR513A1 574509 broad.mit.edu 37 X 146295104 146295104 + RNA SNP C A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:146295104C>A hsa-mir-513a-1|MI0003191 - c.6C>A 0 ctgaatgtggcatcccAGACC 0.209 5 6 --- --- --- --- PASS MAGEA4 4103 broad.mit.edu 37 X 151092212 151092212 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:151092212G>T uc004fez.2 + 3 232 c.76G>T c.(76-78)GTG>TTG p.V26L MAGEA4_uc004ffa.2_Missense_Mutation_p.V26L|MAGEA4_uc004ffb.2_Missense_Mutation_p.V26L|MAGEA4_uc004ffc.2_Missense_Mutation_p.V26L|MAGEA4_uc004ffd.2_Missense_Mutation_p.V26L NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 26 protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCTGGGCCTGGTGGGTGCACA 0.617 42 13 --- --- --- --- PASS PNCK 139728 broad.mit.edu 37 X 152937126 152937126 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:152937126G>T uc011myu.1 - 6 851 c.665C>A c.(664-666)CCC>CAC p.P222H PNCK_uc011myt.1_Missense_Mutation_p.P156H|PNCK_uc004fia.2_Missense_Mutation_p.P151H|PNCK_uc004fhz.3_Missense_Mutation_p.P37H|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.P166H|PNCK_uc011myw.1_Missense_Mutation_p.P166H NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN pregnancy upregulated non-ubiquitously expressed 139 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GAGGTTTTCGGGCTGTGACAC 0.597 70 38 --- --- --- --- PASS L1CAM 3897 broad.mit.edu 37 X 153130878 153130878 + Silent SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:153130878G>T uc004fjb.2 - 20 2733 c.2625C>A c.(2623-2625)GCC>GCA p.A875A L1CAM_uc004fjc.2_Silent_p.A875A|L1CAM_uc010nuo.2_Silent_p.A870A NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 875 Extracellular (Potential).|Fibronectin type-III 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGTGGTGTTGGCGGGCACCA 0.602 81 30 --- --- --- --- PASS L1CAM 3897 broad.mit.edu 37 X 153130879 153130879 + Missense_Mutation SNP G T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:153130879G>T uc004fjb.2 - 20 2732 c.2624C>A c.(2623-2625)GCC>GAC p.A875D L1CAM_uc004fjc.2_Missense_Mutation_p.A875D|L1CAM_uc010nuo.2_Missense_Mutation_p.A870D NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 875 Extracellular (Potential).|Fibronectin type-III 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGTGGTGTTGGCGGGCACCAC 0.607 79 30 --- --- --- --- PASS CDCP2 200008 broad.mit.edu 37 1 54605533 54605533 + Frame_Shift_Del DEL C - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:54605533delC uc001cwv.1 - 4 1858 c.1010delG c.(1009-1011)GGAfs p.G337fs NM_201546 NP_963840 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 precursor 337 CUB 3. extracellular region ovary(1) 1 CAGGTGGTGTCCACACCAATT 0.632 35 16 --- --- --- --- ATXN7L2 127002 broad.mit.edu 37 1 110026622 110026622 + Frame_Shift_Del DEL G - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:110026622delG uc001dxr.2 + 1 62 c.47delG c.(46-48)CGGfs p.R16fs NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 16 ovary(2) 2 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) gctctggagcggcggGTGCCG 0.313 11 6 --- --- --- --- KCNT2 343450 broad.mit.edu 37 1 196577354 196577354 + Frame_Shift_Del DEL T - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr1:196577354delT uc001gtd.1 - 1 146 c.86delA c.(85-87)AACfs p.N29fs KCNT2_uc001gte.1_Frame_Shift_Del_p.N29fs|KCNT2_uc001gtf.1_Frame_Shift_Del_p.N29fs|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Frame_Shift_Del_p.N29fs|KCNT2_uc009wyv.1_Frame_Shift_Del_p.N29fs NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 29 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 CCTGTCGTCGTTTTGCCATCC 0.517 158 73 --- --- --- --- ATL2 64225 broad.mit.edu 37 2 38537548 38537548 + Frame_Shift_Del DEL C - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:38537548delC uc002rqq.2 - 8 876 c.846delG c.(844-846)AAGfs p.K282fs ATL2_uc010ynm.1_Frame_Shift_Del_p.K264fs|ATL2_uc010ynn.1_Frame_Shift_Del_p.K264fs|ATL2_uc010yno.1_Frame_Shift_Del_p.K111fs|ATL2_uc002rqs.2_Frame_Shift_Del_p.K282fs|ATL2_uc002rqr.2_Frame_Shift_Del_p.K111fs NM_001135673 NP_001129145 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 isoform 2 282 Potential.|Cytoplasmic. endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding ovary(1)|kidney(1)|skin(1) 3 TGTGTATGTGCTTCCTTACAT 0.368 71 42 --- --- --- --- BOLA3 388962 broad.mit.edu 37 2 74372362 74372362 + Frame_Shift_Del DEL T - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:74372362delT uc002skc.1 - 2 161 c.123delA c.(121-123)AAAfs p.K41fs BOLA3_uc002skd.1_Frame_Shift_Del_p.K41fs|uc002ske.2_5'Flank|uc002skf.2_5'Flank|uc002skg.2_5'Flank NM_212552 NP_997717 Q53S33 BOLA3_HUMAN bolA-like 3 isoform 1 41 extracellular region 0 GAAACTTTTCTTTGAGAATTT 0.483 92 69 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG - - rs112040677 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr2:131129929_131129934delGACGGG uc002trc.2 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)CAGACGGGG>CAG p.TG378del PTPN18_uc002trd.2_In_Frame_Del_p.TG357del|PTPN18_uc002trb.2_In_Frame_Del_p.TG271del|PTPN18_uc002tre.2_In_Frame_Del_p.TG29del NM_014369 NP_055184 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 378_379 Missing (in Ref. 1; CAA56105). cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity ovary(3)|kidney(1) 4 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.568 8 4 --- --- --- --- VENTXP7 391518 broad.mit.edu 37 3 21447903 21447904 + RNA INS - CA CA TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:21447903_21447904insCA uc003ccd.2 + 1 c.686_687insCA NR_002311 Homo sapiens VENT homeobox (Xenopus laevis) pseudogene 7 (VENTXP7), non-coding RNA. 0 GGCATACCACCCCCCACGCCCA 0.653 4 3 --- --- --- --- EPHB3 2049 broad.mit.edu 37 3 184295691 184295691 + Frame_Shift_Del DEL G - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr3:184295691delG uc003foz.2 + 8 2082 c.1645delG c.(1645-1647)GGGfs p.G549fs NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 549 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) TCCAGGCTCTGGGGCCCAGCA 0.632 48 61 --- --- --- --- ADAMTS12 81792 broad.mit.edu 37 5 33596054 33596054 + Frame_Shift_Del DEL T - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:33596054delT uc003jia.1 - 17 2802 c.2639delA c.(2638-2640)AAGfs p.K880fs ADAMTS12_uc010iuq.1_Frame_Shift_Del_p.K795fs NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 880 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TGGACAAGCCTTTTCATGGCA 0.502 HNSCC(64;0.19) 130 76 --- --- --- --- ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139908801 139908802 + Frame_Shift_Ins INS - G G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:139908801_139908802insG uc003lfs.1 + 29 6394_6395 c.6270_6271insG c.(6268-6273)AGTCCTfs p.S2090fs ANKHD1_uc003lfr.2_Frame_Shift_Ins_p.S2090fs|ANKHD1-EIF4EBP3_uc011czh.1_Frame_Shift_Ins_p.S829fs|ANKHD1_uc003lfw.2_Frame_Shift_Ins_p.S728fs|ANKHD1_uc010jfl.2_Frame_Shift_Ins_p.S525fs|ANKHD1-EIF4EBP3_uc003lfx.1_Frame_Shift_Ins_p.S227fs NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 2090_2091 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGATTTAAGTCCTATGTCAAT 0.480 150 170 --- --- --- --- GABRA6 2559 broad.mit.edu 37 5 161119134 161119134 + Frame_Shift_Del DEL G - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:161119134delG uc003lyu.2 + 8 1352 c.1014delG c.(1012-1014)AAGfs p.K338fs GABRA6_uc003lyv.2_Frame_Shift_Del_p.K109fs NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 338 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCAAAAGGAAGGCACAGTTTG 0.428 TCGA Ovarian(5;0.080) 57 60 --- --- --- --- STK10 6793 broad.mit.edu 37 5 171533644 171533644 + Frame_Shift_Del DEL C - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr5:171533644delC uc003mbo.1 - 6 1068 c.768delG c.(766-768)ACGfs p.T256fs NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 256 Protein kinase. ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCGTGAGCAGCGTGGGAGGGT 0.662 OREG0017039 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 26 --- --- --- --- SGK1 6446 broad.mit.edu 37 6 134583250 134583250 + Frame_Shift_Del DEL C - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr6:134583250delC uc003qeo.3 - 2 704 c.106delG c.(106-108)GACfs p.D36fs SGK1_uc003qep.2_Frame_Shift_Del_p.D36fs NM_001143676 NP_001137148 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 isoform Error:Variant_position_missing_in_O00141_after_alignment apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(3)|stomach(1)|lung(1)|central_nervous_system(1) 6 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) TGATGCTTGTCCACACTGACC 0.493 142 133 --- --- --- --- CTTNBP2 83992 broad.mit.edu 37 7 117431274 117431274 + Frame_Shift_Del DEL G - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr7:117431274delG uc003vjf.2 - 4 2068 c.1976delC c.(1975-1977)CCTfs p.P659fs NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 659 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) AATGGTGGTAGGAATGACAAG 0.562 95 43 --- --- --- --- MAFA 389692 broad.mit.edu 37 8 144511677 144511678 + Frame_Shift_Ins INS - A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr8:144511677_144511678insA uc003yyc.1 - 1 899_900 c.899_900insT c.(898-900)GTGfs p.V300fs NM_201589 NP_963883 Q8NHW3 MAFA_HUMAN v-maf musculoaponeurotic fibrosarcoma oncogene 300 Leucine-zipper. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CCAGGCGCCCCACCTCCAGCTT 0.500 HNSCC(29;0.082) 42 23 --- --- --- --- MPDZ 8777 broad.mit.edu 37 9 13107037 13107037 + Frame_Shift_Del DEL C - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:13107037delC uc010mhy.2 - 45 6104 c.6053delG c.(6052-6054)GGAfs p.G2018fs MPDZ_uc003zkx.3_Frame_Shift_Del_p.G242fs|MPDZ_uc003zky.3_Frame_Shift_Del_p.G581fs|MPDZ_uc010mib.2_Frame_Shift_Del_p.G752fs|MPDZ_uc010mhx.2_Frame_Shift_Del_p.G869fs|MPDZ_uc011lmm.1_Frame_Shift_Del_p.G906fs|MPDZ_uc003zkz.3_Frame_Shift_Del_p.G740fs|MPDZ_uc010mhz.2_Frame_Shift_Del_p.G2014fs|MPDZ_uc011lmn.1_Frame_Shift_Del_p.G1985fs|MPDZ_uc003zlb.3_Frame_Shift_Del_p.G2018fs NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 2047 PDZ 13. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) ATGGGTGACTCCTTCTAGACT 0.463 109 136 --- --- --- --- LINGO2 158038 broad.mit.edu 37 9 27950283 27950283 + Frame_Shift_Del DEL G - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr9:27950283delG uc003zqu.1 - 2 581 c.387delC c.(385-387)TCCfs p.S129fs LINGO2_uc010mjf.1_Frame_Shift_Del_p.S129fs|LINGO2_uc003zqv.1_Frame_Shift_Del_p.S129fs NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 129 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TAGTGAGATTGGACAGCCCCG 0.443 63 97 --- --- --- --- TRUB1 142940 broad.mit.edu 37 10 116734977 116734978 + Frame_Shift_Ins INS - T T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr10:116734977_116734978insT uc001lcd.2 + 8 950_951 c.889_890insT c.(889-891)ATTfs p.I297fs TRUB1_uc010qsl.1_Frame_Shift_Ins_p.I199fs NM_139169 NP_631908 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase homolog 1 297 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding 0 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) CAAATGGACAATTGATGACATT 0.436 176 100 --- --- --- --- CLEC12A 160364 broad.mit.edu 37 12 10137593 10137593 + Frame_Shift_Del DEL C - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:10137593delC uc001qwr.3 + 6 954 c.766delC c.(766-768)CAGfs p.Q256fs CLEC12A_uc001qwq.2_Frame_Shift_Del_p.Q266fs|CLEC12A_uc001qws.3_Frame_Shift_Del_p.Q223fs|CLEC12A_uc001qwt.2_Frame_Shift_Del_p.Q185fs NM_138337 NP_612210 Q5QGZ9 CL12A_HUMAN myeloid inhibitory C-type lectin-like receptor 256 Extracellular (Potential). integral to membrane|plasma membrane receptor activity|sugar binding skin(1) 1 caatccagtgcagcttggttc 0.075 16 9 --- --- --- --- TXNRD1 7296 broad.mit.edu 37 12 104712786 104712789 + Frame_Shift_Del DEL GTCT - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr12:104712786_104712789delGTCT uc010swk.1 + 8 848_851 c.826_829delGTCT c.(826-831)GTCTATfs p.V276fs TXNRD1_uc010swl.1_Frame_Shift_Del_p.V126fs|TXNRD1_uc010swm.1_Frame_Shift_Del_p.V178fs|TXNRD1_uc010swn.1_Frame_Shift_Del_p.V126fs|TXNRD1_uc010swo.1_Frame_Shift_Del_p.V126fs|TXNRD1_uc010swp.1_Frame_Shift_Del_p.V88fs|TXNRD1_uc010swq.1_Frame_Shift_Del_p.V176fs|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Frame_Shift_Del_p.V192fs NM_001093771 NP_001087240 Q16881 TRXR1_HUMAN thioredoxin reductase 1 isoform 3 276_277 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity 0 GAAAAAAGTCGTCTATGAGAATGC 0.382 45 42 --- --- --- --- NEO1 4756 broad.mit.edu 37 15 73585763 73585763 + Frame_Shift_Del DEL G - - rs149490246 byFrequency TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr15:73585763delG uc002avm.3 + 26 3917 c.3775delG c.(3775-3777)GATfs p.D1259fs NEO1_uc010ukx.1_Frame_Shift_Del_p.D1248fs|NEO1_uc010uky.1_Intron|NEO1_uc010ukz.1_Frame_Shift_Del_p.D672fs|NEO1_uc002avn.3_Frame_Shift_Del_p.D897fs NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 1259 Cytoplasmic (Potential). axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 CCATTCCCTCGATAACCCTCA 0.502 192 122 --- --- --- --- CORO7 79585 broad.mit.edu 37 16 4414342 4414342 + Frame_Shift_Del DEL C - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:4414342delC uc002cwh.3 - 14 1330 c.1210delG c.(1210-1212)GAGfs p.E404fs CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Frame_Shift_Del_p.E404fs|CORO7_uc002cwg.3_Frame_Shift_Del_p.E184fs|CORO7_uc010uxh.1_Frame_Shift_Del_p.E386fs|CORO7_uc010uxi.1_Frame_Shift_Del_p.E319fs|CORO7_uc002cwi.1_Frame_Shift_Del_p.E184fs|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Frame_Shift_Del_p.E184fs NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 404 cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 GGGAGGGGCTCCGCAGGGGGC 0.682 14 19 --- --- --- --- SLC6A2 6530 broad.mit.edu 37 16 55728016 55728017 + Frame_Shift_Ins INS - C C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr16:55728016_55728017insC uc002eif.2 + 7 1124_1125 c.1013_1014insC c.(1012-1014)AACfs p.N338fs SLC6A2_uc010ccd.2_Frame_Shift_Ins_p.N338fs|SLC6A2_uc002eig.2_Frame_Shift_Ins_p.N338fs|SLC6A2_uc002eih.2_Frame_Shift_Ins_p.N338fs|SLC6A2_uc002eii.2_Frame_Shift_Ins_p.N233fs|SLC6A2_uc002eij.2_Frame_Shift_Ins_p.N52fs NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 338 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) TTTGACAACAACTGTTACAGGT 0.436 58 44 --- --- --- --- DNAH2 146754 broad.mit.edu 37 17 7640532 7640532 + Frame_Shift_Del DEL C - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr17:7640532delC uc002giu.1 + 7 1140 c.1126delC c.(1126-1128)CCCfs p.P376fs DNAH2_uc002git.2_Frame_Shift_Del_p.P376fs|DNAH2_uc010vuk.1_Frame_Shift_Del_p.P376fs NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 376 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) GGTCAACTCTCCCCACTACAA 0.537 48 57 --- --- --- --- RAX2 84839 broad.mit.edu 37 19 3771726 3771727 + Frame_Shift_Ins INS - T T rs144065007 TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:3771726_3771727insT uc002lys.2 - 2 82_83 c.14_15insA c.(13-15)CCGfs p.P5fs RAX2_uc010dtp.1_RNA|RAX2_uc002lyr.2_Frame_Shift_Ins_p.P51fs NM_032753 NP_116142 Q96IS3 RAX2_HUMAN retina and anterior neural fold homeobox 2 5 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCCTCGCCCGGGCTCAGGAA 0.723 11 6 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9088753 9088753 + Frame_Shift_Del DEL A - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr19:9088753delA uc002mkp.2 - 1 3266 c.3062delT c.(3061-3063)ATCfs p.I1021fs NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1021 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 TGTTGTGAGGATGGTTGTTGA 0.468 121 93 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41664101 41664102 + Frame_Shift_Ins INS - A A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chr22:41664101_41664102insA uc003azs.2 - 3 1769_1770 c.299_300insT c.(298-300)CTGfs p.L100fs RANGAP1_uc003azt.2_Frame_Shift_Ins_p.L100fs|RANGAP1_uc003azu.2_Frame_Shift_Ins_p.L100fs|RANGAP1_uc011aoz.1_Frame_Shift_Ins_p.L90fs NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 100 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 GTTCGCTTACCAGGGCTGGTGG 0.564 4 2 --- --- --- --- GLUD2 2747 broad.mit.edu 37 X 120182757 120182757 + Frame_Shift_Del DEL G - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:120182757delG uc004eto.2 + 1 1296 c.1219delG c.(1219-1221)GGGfs p.G407fs NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 407 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) AGGTGCCAATGGGCCAACAAC 0.468 78 153 --- --- --- --- SLITRK2 84631 broad.mit.edu 37 X 144906278 144906278 + Frame_Shift_Del DEL T - - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx ddd84ea3-dd5e-4f95-97c3-84c107c19cad cf452c46-4f4d-40dd-b42f-e8e724a6109b g.chrX:144906278delT uc004fcd.2 + 5 3325 c.2335delT c.(2335-2337)TTAfs p.L779fs SLITRK2_uc010nsp.2_Frame_Shift_Del_p.L779fs|SLITRK2_uc010nso.2_Frame_Shift_Del_p.L779fs|SLITRK2_uc011mwq.1_Frame_Shift_Del_p.L779fs|SLITRK2_uc011mwr.1_Frame_Shift_Del_p.L779fs|SLITRK2_uc011mws.1_Frame_Shift_Del_p.L779fs|SLITRK2_uc004fcg.2_Frame_Shift_Del_p.L779fs|SLITRK2_uc011mwt.1_Frame_Shift_Del_p.L779fs|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 779 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) CTTTTGTACCTTACCTAAAAG 0.458 76 113 --- --- --- ---