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 PRKCZ 5590 broad.mit.edu 37 1 2077516 2077516 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:2077516C>T uc001aiq.2 + 7 764 c.603C>T c.(601-603)GAC>GAT p.D201D PRKCZ_uc001air.2_Silent_p.D18D|PRKCZ_uc010nyw.1_Silent_p.D97D|PRKCZ_uc001ais.2_Silent_p.D18D|PRKCZ_uc009vla.2_Silent_p.D25D|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc009vlb.2_Silent_p.D14D NM_002744 NP_002735 Q05513 KPCZ_HUMAN protein kinase C, zeta isoform 1 201 anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(2) 6 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) AGAACGAGGACGCCGACCTTC 0.582 15 72 --- --- --- --- PASS AGTRAP 57085 broad.mit.edu 37 1 11807558 11807558 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:11807558G>A uc001asv.2 + 3 248 c.124G>A c.(124-126)GTG>ATG p.V42M AGTRAP_uc001ast.2_Missense_Mutation_p.R74H|AGTRAP_uc001asu.2_Missense_Mutation_p.R74H|AGTRAP_uc001asw.2_Missense_Mutation_p.V42M|AGTRAP_uc001asx.2_Missense_Mutation_p.R30H NM_020350 NP_065083 Q6RW13 ATRAP_HUMAN angiotensin II receptor-associated protein 42 Helical; (Potential). cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein binding AGTRAP/BRAF(2) stomach(2) 2 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;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) GGCCTTGGGCGTGTGGGCTGT 0.642 5 195 --- --- --- --- PASS RNF186 54546 broad.mit.edu 37 1 20141183 20141183 + Nonsense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:20141183C>A uc001bcr.2 - 1 589 c.412G>T c.(412-414)GGA>TGA p.G138* NM_019062 NP_061935 Q9NXI6 RN186_HUMAN ring finger protein 186 138 integral to membrane zinc ion binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCATCCTCTCCCACCAAGCTG 0.637 50 31 --- --- --- --- PASS GPATCH3 63906 broad.mit.edu 37 1 27226883 27226883 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:27226883C>T uc001bne.2 - 1 80 c.51G>A c.(49-51)GTG>GTA p.V17V GPATCH3_uc009vsp.1_5'UTR NM_022078 NP_071361 Q96I76 GPTC3_HUMAN G patch domain containing 3 17 intracellular nucleic acid binding 0 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) GGATACCGCTCACTACCAGGT 0.597 37 30 --- --- --- --- PASS LEPR 3953 broad.mit.edu 37 1 66087122 66087122 + Missense_Mutation SNP T A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:66087122T>A uc001dci.2 + 18 2780 c.2578T>A c.(2578-2580)TTA>ATA p.L860I LEPR_uc001dcg.2_Missense_Mutation_p.L860I|LEPR_uc001dch.2_Missense_Mutation_p.L860I|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.L860I|LEPR_uc001dck.2_Missense_Mutation_p.L860I NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 860 Helical; (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GCTTGGAACATTATTAATATC 0.323 40 46 --- --- --- --- PASS RBMXL1 494115 broad.mit.edu 37 1 89448597 89448597 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:89448597C>A uc009wcx.2 - 3 1629 c.913G>T c.(913-915)GGT>TGT p.G305C CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.G305C NM_001162536 NP_001156008 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 305 Ser-rich. nucleotide binding|RNA binding 0 CTGCTTCCACCATAAGATGGC 0.473 114 102 --- --- --- --- PASS SLC30A7 148867 broad.mit.edu 37 1 101383663 101383663 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:101383663C>A uc001dtn.2 + 7 873 c.686C>A c.(685-687)CCC>CAC p.P229H SLC30A7_uc001dto.2_Missense_Mutation_p.P229H NM_001144884 NP_001138356 Q8NEW0 ZNT7_HUMAN zinc transporter like 2 229 Cytoplasmic (Potential). zinc ion transport Golgi apparatus|integral to membrane cation transmembrane transporter activity|protein binding 0 all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119) Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201) ACAACAGGACCCAGCAGACAG 0.313 41 46 --- --- --- --- PASS WARS2 10352 broad.mit.edu 37 1 119575589 119575589 + Missense_Mutation SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:119575589T>C uc001ehn.2 - 6 1056 c.1028A>G c.(1027-1029)AAA>AGA p.K343R WARS2_uc010oxf.1_Missense_Mutation_p.K249R|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.K286R|WARS2_uc010oxh.1_3'UTR NM_015836 NP_056651 Q9UGM6 SYWM_HUMAN mitochondrial tryptophanyl tRNA synthetase 2 343 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity 0 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) TGCTAATTCTTTGGCTTTTGC 0.413 64 65 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152280813 152280813 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:152280813C>G uc001ezu.1 - 3 6585 c.6549G>C c.(6547-6549)CAG>CAC p.Q2183H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2183 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGATCCTGACTGCCCACGGG 0.537 Ichthyosis 15 608 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158651325 158651325 + Nonsense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:158651325C>A uc001fst.1 - 4 722 c.523G>T c.(523-525)GGA>TGA p.G175* NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 175 Spectrin 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ACCTTGTCTCCAATCCACTCT 0.517 373 184 --- --- --- --- PASS DARC 2532 broad.mit.edu 37 1 159175318 159175318 + Missense_Mutation SNP A G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:159175318A>G uc001fto.2 + 2 329 c.89A>G c.(88-90)TAT>TGT p.Y30C DARC_uc001ftp.3_Missense_Mutation_p.Y32C NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 30 Extracellular (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) AATTCTTCCTATGGTGTGAAT 0.547 74 37 --- --- --- --- PASS IGSF9 57549 broad.mit.edu 37 1 159897217 159897217 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:159897217C>T uc001fur.2 - 21 3656 c.3458G>A c.(3457-3459)CGC>CAC p.R1153H IGSF9_uc001fuq.2_Missense_Mutation_p.R1137H|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Missense_Mutation_p.R299H NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 1153 Cytoplasmic (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) TCGGCGGCGGCGGAAGGCCAG 0.637 18 86 --- --- --- --- PASS PCP4L1 654790 broad.mit.edu 37 1 161254154 161254154 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:161254154G>A uc001gad.2 + 3 338 c.90G>A c.(88-90)GCG>GCA p.A30A NM_001102566 NP_001096036 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 30 0 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAAGAAGGCGGAGGAGGAGG 0.488 19 124 --- --- --- --- PASS RXRG 6258 broad.mit.edu 37 1 165376129 165376129 + Silent SNP A G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:165376129A>G uc001gda.2 - 9 1464 c.1164T>C c.(1162-1164)TCT>TCC p.S388S NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 388 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) TCTCCACCTCAGAGGGGTTGG 0.547 82 49 --- --- --- --- PASS RXRG 6258 broad.mit.edu 37 1 165386326 165386326 + Nonsense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:165386326G>A uc001gda.2 - 4 874 c.574C>T c.(574-576)CAG>TAG p.Q192* NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 192 NR C4-type.|Nuclear receptor. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) CGACAGTACTGGCAGCGGTTG 0.507 44 62 --- --- --- --- PASS RC3H1 149041 broad.mit.edu 37 1 173931198 173931198 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:173931198G>A uc001gju.3 - 11 1954 c.1867C>T c.(1867-1869)CGC>TGC p.R623C RC3H1_uc010pms.1_Missense_Mutation_p.R623C|RC3H1_uc001gjv.2_Missense_Mutation_p.R623C|RC3H1_uc010pmt.1_Missense_Mutation_p.R623C NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 623 Pro-rich. cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CGGACAAAGCGGGACACACAT 0.438 17 98 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175355405 175355405 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:175355405C>A uc001gkp.1 - 6 1621 c.1540G>T c.(1540-1542)GAT>TAT p.D514Y TNR_uc009wwu.1_Missense_Mutation_p.D514Y NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 514 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) TCCGAGACATCGCGAACCAGG 0.498 4 73 --- --- --- --- PASS FAM5B 57795 broad.mit.edu 37 1 177225101 177225101 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:177225101G>C uc001glf.2 + 3 628 c.316G>C c.(316-318)GAC>CAC p.D106H FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.2_5'Flank NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 106 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 GGAAAGGAAGGACTTCTTCAG 0.498 OREG0014006 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 103 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186034406 186034406 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:186034406G>T uc001grq.1 + 49 7779 c.7550G>T c.(7549-7551)GGG>GTG p.G2517V NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2517 Ig-like C2-type 23. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CACAAAGATGGGCAGCCCCTC 0.398 34 21 --- --- --- --- PASS PLA2G4A 5321 broad.mit.edu 37 1 186919850 186919850 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:186919850C>G uc001gsc.2 + 13 1531 c.1326C>G c.(1324-1326)CAC>CAG p.H442Q PLA2G4A_uc010pos.1_Missense_Mutation_p.H382Q NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 442 PLA2c. H -> Q (in a breast cancer sample; somatic mutation). phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity p.H442Q(1) lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) ATGAATCACACGAACCCAAAG 0.398 14 109 --- --- --- --- PASS PLXNA2 5362 broad.mit.edu 37 1 208219238 208219238 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:208219238C>T uc001hgz.2 - 18 4238 c.3480G>A c.(3478-3480)TCG>TCA p.S1160S NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 1160 IPT/TIG 4.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) GAATGATGGGCGATCCTGGCT 0.537 31 173 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216500970 216500970 + Nonsense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:216500970G>A uc001hku.1 - 5 1198 c.811C>T c.(811-813)CAA>TAA p.Q271* USH2A_uc001hkv.2_Nonsense_Mutation_p.Q271* NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 271 Laminin N-terminal.|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) CGAAAATCTTGCATTCTTCCG 0.358 HNSCC(13;0.011) 110 56 --- --- --- --- PASS ACBD3 64746 broad.mit.edu 37 1 226352579 226352579 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:226352579C>A uc001hpy.2 - 3 527 c.480G>T c.(478-480)GAG>GAT p.E160D NM_022735 NP_073572 Q9H3P7 GCP60_HUMAN acyl-Coenzyme A binding domain containing 3 160 ACB. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) GCTTGACAAACTCCACCATGG 0.408 3 152 --- --- --- --- PASS ACTA1 58 broad.mit.edu 37 1 229567639 229567639 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:229567639C>A uc001htm.2 - 6 924 c.819G>T c.(817-819)TCG>TCT p.S273S NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 273 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) GAATGCCCGCCGACTCCATAC 0.493 38 87 --- --- --- --- PASS EXO1 9156 broad.mit.edu 37 1 242021897 242021897 + Silent SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:242021897G>C uc001hzh.2 + 8 1173 c.633G>C c.(631-633)ACG>ACC p.T211T EXO1_uc001hzi.2_Silent_p.T211T|EXO1_uc001hzj.2_Silent_p.T211T|EXO1_uc009xgq.2_Silent_p.T211T NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 211 I-domain.|Interaction with MSH3. 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) ATGTATTCACGGAAGAGAAGT 0.423 Direct_reversal_of_damage|Editing_and_processing_nucleases 27 256 --- --- --- --- PASS ZNF238 10472 broad.mit.edu 37 1 244218625 244218625 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:244218625G>A uc001iae.2 + 1 2044 c.1522G>A c.(1522-1524)GTC>ATC p.V508I ZNF238_uc001iad.3_Missense_Mutation_p.V517I|ZNF238_uc001iaf.1_3'UTR NM_006352 NP_006343 Q99592 ZN238_HUMAN zinc finger protein 238 isoform 2 508 negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|pancreas(2) 5 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) CTTGCCTACTGTCAGAGACTG 0.358 26 203 --- --- --- --- PASS CMPK2 129607 broad.mit.edu 37 2 7003614 7003614 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:7003614G>A uc002qyo.2 - 2 880 c.771C>T c.(769-771)ATC>ATT p.I257I CMPK2_uc010yis.1_Silent_p.I257I|CMPK2_uc010ewv.2_Silent_p.I257I NM_207315 NP_997198 Q5EBM0 CMPK2_HUMAN UMP-CMP kinase 2 precursor 257 dTDP biosynthetic process mitochondrion ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CCAGTCCTTCGATGGCAACAA 0.448 55 96 --- --- --- --- PASS NTSR2 23620 broad.mit.edu 37 2 11809674 11809674 + Nonsense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:11809674G>T uc002rbq.3 - 1 656 c.582C>A c.(580-582)TGC>TGA p.C194* NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 194 Extracellular (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) CCAGCACCGTGCACACTCGCG 0.721 9 22 --- --- --- --- PASS NTSR2 23620 broad.mit.edu 37 2 11809675 11809675 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:11809675C>T uc002rbq.3 - 1 655 c.581G>A c.(580-582)TGC>TAC p.C194Y NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 194 Extracellular (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) CAGCACCGTGCACACTCGCGA 0.721 9 22 --- --- --- --- PASS FAM49A 81553 broad.mit.edu 37 2 16740772 16740772 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:16740772G>A uc010exm.1 - 9 941 c.793C>T c.(793-795)CAT>TAT p.H265Y FAM49A_uc002rck.1_Missense_Mutation_p.H265Y NM_030797 NP_110424 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 265 intracellular 0 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) GGGTGGACATGGTCATAGAGG 0.468 69 126 --- --- --- --- PASS SDC1 6382 broad.mit.edu 37 2 20403985 20403985 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:20403985C>T uc002rdo.1 - 3 515 c.216G>A c.(214-216)ACG>ACA p.T72T SDC1_uc002rdp.1_Silent_p.T72T|SDC1_uc010exv.2_Silent_p.T72T|SDC1_uc010exw.1_RNA NM_002997 NP_002988 P18827 SDC1_HUMAN syndecan 1 precursor 72 Extracellular (Potential). lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding ovary(4)|skin(1) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) TGGGAATAGCCGTCAGGAGCT 0.622 37 183 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21226033 21226033 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:21226033C>A uc002red.2 - 29 12389 c.12261G>T c.(12259-12261)AAG>AAT p.K4087N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4087 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) CCCAGTGGTACTTGTTGACAT 0.473 99 189 --- --- --- --- PASS VIT 5212 broad.mit.edu 37 2 36986128 36986128 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:36986128G>A uc002rpl.2 + 6 647 c.426G>A c.(424-426)AAG>AAA p.K142K VIT_uc002rpk.2_Silent_p.K135K|VIT_uc010ynf.1_Silent_p.K135K|VIT_uc002rpm.2_Silent_p.K135K|VIT_uc010ezv.2_Silent_p.K135K|VIT_uc010ezw.2_Silent_p.K135K NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 142 proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) AACCCAAAAAGGGTGTAACCT 0.393 84 177 --- --- --- --- PASS ATL2 64225 broad.mit.edu 37 2 38570414 38570414 + Missense_Mutation SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:38570414T>C uc002rqq.2 - 2 389 c.359A>G c.(358-360)AAC>AGC p.N120S ATL2_uc010ynm.1_Missense_Mutation_p.N102S|ATL2_uc010ynn.1_Missense_Mutation_p.N102S|ATL2_uc010yno.1_Intron|ATL2_uc002rqs.2_Missense_Mutation_p.N120S|ATL2_uc002rqr.2_Intron NM_001135673 NP_001129145 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 isoform 2 120 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 ATTCACCTTGTTATACATGTA 0.333 55 87 --- --- --- --- PASS PSME4 23198 broad.mit.edu 37 2 54135695 54135695 + Missense_Mutation SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:54135695T>C uc002rxp.2 - 23 2693 c.2637A>G c.(2635-2637)ATA>ATG p.I879M PSME4_uc010yop.1_Missense_Mutation_p.I765M|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.I254M|PSME4_uc010fbv.1_Missense_Mutation_p.I23M NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 879 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AATTATCAAGTATGTGGTCTA 0.269 58 125 --- --- --- --- PASS CCDC85A 114800 broad.mit.edu 37 2 56419918 56419918 + Nonsense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:56419918C>T uc002rzn.2 + 2 1085 c.583C>T c.(583-585)CAA>TAA p.Q195* NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 195 breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CAGCCTGTGCCAACTCACAGC 0.637 11 23 --- --- --- --- PASS ADD2 119 broad.mit.edu 37 2 70906069 70906069 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:70906069G>C uc002sgz.2 - 11 1615 c.1150C>G c.(1150-1152)CGC>GGC p.R384G ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.R384G|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.R384G|ADD2_uc010fdt.1_Missense_Mutation_p.R384G|ADD2_uc002shc.1_Missense_Mutation_p.R384G|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.R400G NM_001617 NP_001608 P35612 ADDB_HUMAN adducin 2 isoform a 384 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding ovary(2)|pancreas(1) 3 AAGGGGTGGCGATACGTGTAA 0.498 23 164 --- --- --- --- PASS FIGLA 344018 broad.mit.edu 37 2 71012601 71012601 + Silent SNP A G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:71012601A>G uc002she.1 - 3 560 c.555T>C c.(553-555)GCT>GCC p.A185A NM_001004311 NP_001004311 Q6QHK4 FIGLA_HUMAN factor in the germline alpha 185 multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent transcription factor complex DNA binding|transcription factor binding 0 TGTGGCGACAAGCGTGTGCTG 0.458 131 300 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80529580 80529580 + Silent SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:80529580G>T uc002sok.1 - 2 1635 c.1365C>A c.(1363-1365)GCC>GCA p.A455A CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 455 Cytoplasmic (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GCCTGAGGCTGGCTGGGAAAC 0.567 HNSCC(69;0.2) 32 67 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89156980 89156980 + RNA SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:89156980G>T uc010ytr.1 - 243 c.9945C>A uc002sti.1_RNA|uc002stj.1_RNA Parts of antibodies, mostly variable regions. TTTGCTCAGCGTCAGGGTGCT 0.572 44 68 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90139400 90139400 + RNA SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:90139400G>T uc010fhm.2 + 18 c.2193G>T Parts of antibodies, mostly variable regions. GGTTAGCCTGGTATCAGCAGA 0.532 40 207 --- --- --- --- PASS TMEM131 23505 broad.mit.edu 37 2 98422075 98422075 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:98422075C>G uc002syh.3 - 20 2376 c.2147G>C c.(2146-2148)CGA>CCA p.R716P NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 716 integral to membrane ovary(4)|central_nervous_system(2) 6 ATAGTAAAATCGCACATCTTC 0.333 116 337 --- --- --- --- PASS SCTR 6344 broad.mit.edu 37 2 120252024 120252024 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:120252024C>A uc002tma.2 - 2 399 c.173G>T c.(172-174)GGC>GTC p.G58V NM_002980 NP_002971 P47872 SCTR_HUMAN secretin receptor precursor 58 Extracellular (Potential). digestion|excretion integral to plasma membrane secretin receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Secretin(DB00021) CTGCTCCGTGCCCAGGTCTCC 0.612 24 31 --- --- --- --- PASS CCDC115 84317 broad.mit.edu 37 2 131096751 131096751 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:131096751C>A uc002tqy.1 - 5 709 c.485G>T c.(484-486)CGA>CTA p.R162L CCDC115_uc002tqw.1_3'UTR|CCDC115_uc010zaf.1_3'UTR|CCDC115_uc002tqx.2_Missense_Mutation_p.R157L|CCDC115_uc002tqz.1_3'UTR NM_032357 NP_115733 Q96NT0 CC115_HUMAN coiled-coil domain containing 115 162 Potential. endosome|lysosome 0 Colorectal(110;0.1) GAGCTGGCTTCGACCCCAGTC 0.602 3 103 --- --- --- --- PASS ZEB2 9839 broad.mit.edu 37 2 145157027 145157027 + Missense_Mutation SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:145157027T>C uc002tvu.2 - 8 2207 c.1727A>G c.(1726-1728)AAC>AGC p.N576S ZEB2_uc002tvv.2_Missense_Mutation_p.N570S|ZEB2_uc010zbm.1_Missense_Mutation_p.N547S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.N605S NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 576 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) AGTGGATATGTTGTGGTTCTC 0.383 92 106 --- --- --- --- PASS UPP2 151531 broad.mit.edu 37 2 158980362 158980362 + Nonsense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:158980362G>T uc002tzp.2 + 6 960 c.766G>T c.(766-768)GAA>TAA p.E256* UPP2_uc002tzo.2_Nonsense_Mutation_p.E313* NM_173355 NP_775491 O95045 UPP2_HUMAN uridine phosphorylase 2 isoform a 256 ESTVFAA -> GIYSVCS (in Ref. 1; AAO61681). nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity 0 TATTGAAATGGAATCTACAGT 0.413 35 174 --- --- --- --- PASS FAP 2191 broad.mit.edu 37 2 163072485 163072485 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:163072485C>A uc002ucd.2 - 10 997 c.789G>T c.(787-789)CGG>CGT p.R263R FAP_uc010zct.1_Silent_p.R238R|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Silent_p.R230R NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 263 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 TAATAAATATCCGAACAACGG 0.408 30 49 --- --- --- --- PASS KCNH7 90134 broad.mit.edu 37 2 163361029 163361029 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:163361029G>T uc002uch.1 - 6 1264 c.1052C>A c.(1051-1053)CCT>CAT p.P351H KCNH7_uc002uci.2_Missense_Mutation_p.P344H NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 351 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TGAAGAAGGAGGTGATGAATT 0.373 84 139 --- --- --- --- PASS FIGN 55137 broad.mit.edu 37 2 164467420 164467420 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:164467420G>C uc002uck.1 - 3 1233 c.922C>G c.(922-924)CTG>GTG p.L308V NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 308 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 CTGTTTGTCAGAGCCGACGGT 0.522 48 90 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166866283 166866283 + Silent SNP C T T rs149579028 byFrequency TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:166866283C>T uc010zcz.1 - 20 3933 c.3915G>A c.(3913-3915)AGG>AGA p.R1305R SCN1A_uc002udo.3_Silent_p.R1185R|SCN1A_uc010fpk.2_Silent_p.R1157R NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1316 Helical; Voltage-sensor; Name=S4 of repeat III; (By similarity).|III. 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) CTCTTAGTGTCCTGAGAGATT 0.368 28 103 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168104241 168104241 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:168104241C>A uc002udx.2 + 8 6357 c.6339C>A c.(6337-6339)TCC>TCA p.S2113S XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.S1938S|XIRP2_uc010fpq.2_Silent_p.S1891S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1938 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TCTTTAATTCCATCCAATCTG 0.378 18 58 --- --- --- --- PASS FASTKD1 79675 broad.mit.edu 37 2 170387128 170387128 + Missense_Mutation SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:170387128T>C uc002uev.3 - 14 2799 c.2411A>G c.(2410-2412)CAT>CGT p.H804R FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.H747R NM_024622 NP_078898 Q53R41 FAKD1_HUMAN FAST kinase domains 1 804 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(4) 4 AATTTCCAAATGTCGTTTTTT 0.343 122 182 --- --- --- --- PASS METTL8 79828 broad.mit.edu 37 2 172195693 172195693 + Splice_Site SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:172195693C>G uc010zdo.1 - 4 747 c.606_splice c.e4+1 p.E202_splice METTL8_uc002ugu.3_Splice_Site_p.E202_splice|METTL8_uc002ugv.3_Splice_Site_p.E202_splice|METTL8_uc002ugt.3_Splice_Site_p.E202_splice|METTL8_uc002ugs.3_Splice_Site_p.E152_splice|METTL8_uc010zdp.1_Splice_Site_p.E157_splice NM_024770 NP_079046 B3KW44 B3KW44_HUMAN methyltransferase like 8 methyltransferase activity ovary(1) 1 GAGCACAATACCTCTAGTATC 0.343 44 196 --- --- --- --- PASS ATF2 1386 broad.mit.edu 37 2 175962228 175962228 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:175962228C>G uc002ujl.2 - 11 1184 c.922G>C c.(922-924)GAG>CAG p.E308Q ATF2_uc010fqv.2_Missense_Mutation_p.E259Q|ATF2_uc002ujv.2_Missense_Mutation_p.E55Q|ATF2_uc002ujm.2_Missense_Mutation_p.E250Q|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Missense_Mutation_p.E308Q|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Missense_Mutation_p.E290Q|ATF2_uc002ujs.2_Missense_Mutation_p.E250Q|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_Missense_Mutation_p.E250Q|ATF2_uc002ujx.1_RNA NM_001880 NP_001871 P15336 ATF2_HUMAN activating transcription factor 2 308 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(1)|breast(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.125) CGAGATTCCTCTGACTGAGTC 0.438 23 131 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179447023 179447023 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:179447023C>T uc010zfg.1 - 263 58680 c.58456G>A c.(58456-58458)GAC>AAC p.D19486N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D13181N|TTN_uc010zfi.1_Missense_Mutation_p.D13114N|TTN_uc010zfj.1_Missense_Mutation_p.D12989N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20413 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) ATGTTCCTACCATATGGGTTT 0.383 21 91 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179464030 179464030 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:179464030C>T uc010zfg.1 - 239 49010 c.48786G>A c.(48784-48786)AAG>AAA p.K16262K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K9957K|TTN_uc010zfi.1_Silent_p.K9890K|TTN_uc010zfj.1_Silent_p.K9765K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17189 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) GGACCCATGTCTTCCTGTTAG 0.413 33 169 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179476369 179476369 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:179476369C>T uc010zfg.1 - 218 43107 c.42883G>A c.(42883-42885)GAT>AAT p.D14295N uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D7990N|TTN_uc010zfi.1_Missense_Mutation_p.D7923N|TTN_uc010zfj.1_Missense_Mutation_p.D7798N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15222 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) CTCCCAGCATCAGTCACATGT 0.433 25 153 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179477512 179477512 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:179477512G>A uc010zfg.1 - 214 42456 c.42232C>T c.(42232-42234)CGG>TGG p.R14078W uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R7773W|TTN_uc010zfi.1_Missense_Mutation_p.R7706W|TTN_uc010zfj.1_Missense_Mutation_p.R7581W NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15005 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) AGCTTCTCCCGGCAAAGCACA 0.438 8 33 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179501173 179501173 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:179501173G>A uc010zfg.1 - 174 33801 c.33577C>T c.(33577-33579)CGT>TGT p.R11193C TTN_uc010zfh.1_Missense_Mutation_p.R4888C|TTN_uc010zfi.1_Missense_Mutation_p.R4821C|TTN_uc010zfj.1_Missense_Mutation_p.R4696C|TTN_uc010fre.1_Missense_Mutation_p.R1054C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12120 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) TTTCCCAAACGTAAAACACAG 0.373 10 77 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179611819 179611819 + Missense_Mutation SNP A T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:179611819A>T uc002unb.2 - 46 15532 c.15308T>A c.(15307-15309)CTA>CAA p.L5103Q 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) ATATCGCTCTAGAGTCTCTCC 0.498 32 162 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179718318 179718318 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:179718318C>T uc002unf.1 - 10 1426 c.1369G>A c.(1369-1371)GTT>ATT p.V457I NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 457 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) ACTCTTACAACTGTGGCACTT 0.378 17 140 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196729651 196729651 + Missense_Mutation SNP T A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:196729651T>A uc002utj.3 - 41 6829 c.6728A>T c.(6727-6729)GAA>GTA p.E2243V NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2243 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ATGAAAATCTTCATACATGTA 0.393 23 165 --- --- --- --- PASS SATB2 23314 broad.mit.edu 37 2 200233368 200233368 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:200233368C>G uc002uuy.1 - 6 1477 c.660G>C c.(658-660)CAG>CAC p.Q220H SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Missense_Mutation_p.Q220H|SATB2_uc002uva.1_Missense_Mutation_p.Q220H NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 220 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 TCCCAAACTCCTGGCACTTGG 0.313 9 143 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207173228 207173228 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:207173228G>A uc002vbp.2 + 5 4226 c.3976G>A c.(3976-3978)GAT>AAT p.D1326N NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1326 nucleic acid binding|zinc ion binding ovary(3) 3 TGTGCCCAGTGATTCTGAAAT 0.393 38 31 --- --- --- --- PASS MAP2 4133 broad.mit.edu 37 2 210560172 210560172 + Missense_Mutation SNP G T T rs139654422 byFrequency TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:210560172G>T uc002vde.1 + 7 3526 c.3278G>T c.(3277-3279)GGT>GTT p.G1093V MAP2_uc002vdc.1_Missense_Mutation_p.G1093V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.G1089V NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1093 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GCATTTATGGGTGTTGAGTCT 0.493 105 95 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211438084 211438084 + Missense_Mutation SNP T G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:211438084T>G uc002vee.3 + 2 321 c.189T>G c.(187-189)CAT>CAG p.H63Q CPS1_uc010fur.2_Missense_Mutation_p.H69Q NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 63 Anthranilate phosphoribosyltransferase homolog. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CCTTTGGCCATCCATCCTCTG 0.423 23 180 --- --- --- --- PASS ERBB4 2066 broad.mit.edu 37 2 212248560 212248560 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:212248560G>T uc002veg.1 - 28 3805 c.3707C>A c.(3706-3708)GCG>GAG p.A1236E ERBB4_uc002veh.1_Missense_Mutation_p.A1220E|ERBB4_uc010zji.1_Missense_Mutation_p.A1226E|ERBB4_uc010zjj.1_Missense_Mutation_p.A1210E NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1236 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) GTTGTCAAACGCTTTCTTGGC 0.483 TSP Lung(8;0.080) 40 205 --- --- --- --- PASS ABCA12 26154 broad.mit.edu 37 2 215875075 215875075 + Missense_Mutation SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:215875075T>C uc002vew.2 - 18 2672 c.2452A>G c.(2452-2454)ACA>GCA p.T818A ABCA12_uc002vev.2_Missense_Mutation_p.T500A|ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 818 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) ATTGCCTTTGTGACTGGGTTA 0.338 20 154 --- --- --- --- PASS TNS1 7145 broad.mit.edu 37 2 218679638 218679638 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:218679638G>T uc002vgt.2 - 25 4812 c.4414C>A c.(4414-4416)CAG>AAG p.Q1472K TNS1_uc002vgr.2_Missense_Mutation_p.Q1459K|TNS1_uc002vgs.2_Missense_Mutation_p.Q1451K|TNS1_uc002vgq.2_5'Flank NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 1472 SH2. cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CACTCACCCTGCTCCCTGGAG 0.547 20 18 --- --- --- --- PASS PRKAG3 53632 broad.mit.edu 37 2 219694732 219694732 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:219694732G>T uc002vjb.1 - 4 621 c.602C>A c.(601-603)TCC>TAC p.S201Y PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Missense_Mutation_p.S201Y|PRKAG3_uc010zko.1_Missense_Mutation_p.S197Y NM_017431 NP_059127 Q9UGI9 AAKG3_HUMAN AMP-activated protein kinase, non-catalytic 201 CBS 1. 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) GACTAGCTTGGAGCTAGTTGC 0.607 19 115 --- --- --- --- PASS WNT6 7475 broad.mit.edu 37 2 219735919 219735919 + Missense_Mutation SNP G T T rs140404341 TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:219735919G>T uc002vjc.1 + 2 466 c.251G>T c.(250-252)CGC>CTC p.R84L NM_006522 NP_006513 Q9Y6F9 WNT6_HUMAN wingless-type MMTV integration site family, 84 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity ovary(2)|skin(1) 3 Renal(207;0.0474) Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGCTTCCGCCGCTGGAATTGC 0.667 14 67 --- --- --- --- PASS CUL3 8452 broad.mit.edu 37 2 225346609 225346609 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:225346609C>A uc002vny.2 - 14 2413 c.2029G>T c.(2029-2031)GTT>TTT p.V677F CUL3_uc010zls.1_Missense_Mutation_p.V611F|CUL3_uc010fwy.1_Missense_Mutation_p.V683F NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 677 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TTCCAGATACCTGTTTGAATC 0.264 75 101 --- --- --- --- PASS COL4A3 1285 broad.mit.edu 37 2 228162414 228162414 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:228162414C>A uc002vom.1 + 42 3752 c.3590C>A c.(3589-3591)CCA>CAA p.P1197Q COL4A3_uc002von.1_Missense_Mutation_p.P1197Q|COL4A3_uc002voo.1_Missense_Mutation_p.P1197Q|COL4A3_uc002vop.1_Missense_Mutation_p.P1197Q|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 1197 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) AGGGGAGCCCCAGGTTTTCCT 0.522 12 15 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228884363 228884363 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:228884363C>A uc002vpq.2 - 7 1254 c.1207G>T c.(1207-1209)GCA>TCA p.A403S SPHKAP_uc002vpp.2_Missense_Mutation_p.A403S|SPHKAP_uc010zlx.1_Missense_Mutation_p.A403S NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 403 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) CTAATAAATGCATCCTGCAGC 0.443 18 155 --- --- --- --- PASS SLC16A14 151473 broad.mit.edu 37 2 230910733 230910733 + Missense_Mutation SNP A G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:230910733A>G uc002vqd.1 - 4 1472 c.1109T>C c.(1108-1110)CTG>CCG p.L370P FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.L370P|SLC16A14_uc002vqf.2_Missense_Mutation_p.L370P NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN solute carrier family 16 (monocarboxylic acid 370 Helical; (Potential). integral to membrane|plasma membrane symporter activity ovary(4)|skin(2) 6 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) TATGACGCCCAGGATCACTTT 0.433 14 110 --- --- --- --- PASS TRPM8 79054 broad.mit.edu 37 2 234869590 234869590 + Silent SNP C T T rs139460470 TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:234869590C>T uc002vvh.2 + 12 1573 c.1533C>T c.(1531-1533)ATC>ATT p.I511I TRPM8_uc010fyj.2_Silent_p.I199I NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 511 Cytoplasmic (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) ATCTGCAGATCGCCAAGAATT 0.507 13 87 --- --- --- --- PASS SETD5 55209 broad.mit.edu 37 3 9490205 9490205 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:9490205C>T uc003brt.2 + 16 2672 c.2237C>T c.(2236-2238)CCG>CTG p.P746L SETD5_uc003brs.1_Missense_Mutation_p.P727L|SETD5_uc003bru.2_Missense_Mutation_p.P648L|SETD5_uc003brv.2_Missense_Mutation_p.P635L|SETD5_uc010hck.2_Missense_Mutation_p.P228L|SETD5_uc003brx.2_Missense_Mutation_p.P415L NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 746 ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) ATCCATTCCCCGTTAATTTGC 0.512 34 36 --- --- --- --- PASS ZFYVE20 64145 broad.mit.edu 37 3 15118644 15118644 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:15118644G>T uc003bzm.1 - 12 1640 c.1026C>A c.(1024-1026)AAC>AAA p.N342K ZFYVE20_uc010hek.1_Missense_Mutation_p.N342K NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN FYVE-finger-containing Rab5 effector protein 342 Necessary for the interaction with RAB4A.|Necessary for the interaction with EHD1. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding skin(2) 2 GAGGGTCCTGGTTCAAGCCCA 0.433 4 118 --- --- --- --- PASS PRSS42 339906 broad.mit.edu 37 3 46871929 46871929 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:46871929C>T uc011bap.1 - 5 847 c.847G>A c.(847-849)GGG>AGG p.G283R PRSS42_uc003cqj.2_3'UTR NM_182702 NP_874361 Q7Z5A4 PRS42_HUMAN testis serine protease 2 precursor 283 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity pancreas(1) 1 CTCACAATCCCTACCTGGACC 0.483 7 6 --- --- --- --- PASS COL7A1 1294 broad.mit.edu 37 3 48628960 48628960 + Nonsense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:48628960G>A uc003ctz.2 - 12 1574 c.1573C>T c.(1573-1575)CGA>TGA p.R525* NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 525 Fibronectin type-III 4.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAGGACACTCGCACCCGCTGC 0.662 59 45 --- --- --- --- PASS BSN 8927 broad.mit.edu 37 3 49689698 49689698 + Silent SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:49689698G>T uc003cxe.3 + 5 2823 c.2709G>T c.(2707-2709)ACG>ACT p.T903T NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 903 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ATGCCACCACGGGCTATGAGG 0.637 8 11 --- --- --- --- PASS SEMA3B 7869 broad.mit.edu 37 3 50311390 50311390 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:50311390G>A uc003cyu.2 + 12 1281 c.1039G>A c.(1039-1041)GTG>ATG p.V347M SEMA3B_uc003cyt.2_Missense_Mutation_p.V346M|SEMA3B_uc003cyv.2_Missense_Mutation_p.V234M|SEMA3B_uc003cyw.2_Missense_Mutation_p.V70M|SEMA3B_uc010hli.2_Missense_Mutation_p.V239M|SEMA3B_uc003cyx.2_Missense_Mutation_p.V233M|SEMA3B_uc003cyy.2_Missense_Mutation_p.V4M|SEMA3B_uc011bdo.1_Missense_Mutation_p.V4M NM_004636 NP_004627 Q13214 SEM3B_HUMAN semaphorin 3B isoform 1 precursor 347 Sema. axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity lung(2)|central_nervous_system(2)|kidney(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CATGAACGACGTGCGCCGGGC 0.682 OREG0015583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 15 --- --- --- --- PASS PRICKLE2 166336 broad.mit.edu 37 3 64133035 64133035 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:64133035G>A uc003dmf.2 - 7 1717 c.1131C>T c.(1129-1131)GAC>GAT p.D377D NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 377 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) GGCTGAGCATGTCCATCTGCA 0.602 72 58 --- --- --- --- PASS TMF1 7110 broad.mit.edu 37 3 69097222 69097222 + Missense_Mutation SNP T A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:69097222T>A uc003dnn.2 - 2 881 c.634A>T c.(634-636)AAT>TAT p.N212Y TMF1_uc011bfx.1_Missense_Mutation_p.N212Y NM_007114 NP_009045 P82094 TMF1_HUMAN TATA element modulatory factor 1 212 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity 0 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) GTAGACGTATTAGATATACTT 0.378 110 93 --- --- --- --- PASS C3orf15 89876 broad.mit.edu 37 3 119426380 119426380 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:119426380C>G uc010hqx.1 + 3 408 c.331C>G c.(331-333)CAC>GAC p.H111D C3orf15_uc003edc.2_Missense_Mutation_p.H111D|C3orf15_uc010hqy.1_Missense_Mutation_p.H111D|C3orf15_uc003ede.3_Missense_Mutation_p.H111D|C3orf15_uc010hqz.2_Missense_Mutation_p.H49D|C3orf15_uc011bjd.1_Intron|C3orf15_uc011bje.1_Missense_Mutation_p.H91D|C3orf15_uc010hra.1_5'UTR Q7Z4T9 AAT1_HUMAN RecName: Full=AMY-1-associating protein expressed in testis 1; Short=AAT-1; 111 mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) TAAGGAGAAACACAGAGAAGC 0.438 16 84 --- --- --- --- PASS HCLS1 3059 broad.mit.edu 37 3 121351918 121351918 + Missense_Mutation SNP G A A rs150723074 byFrequency TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:121351918G>A uc003eeh.3 - 11 1129 c.1004C>T c.(1003-1005)CCG>CTG p.P335L HCLS1_uc011bjj.1_Missense_Mutation_p.P298L|HCLS1_uc011bjk.1_RNA NM_005335 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 335 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(114;0.0912) GCTTACCTCCGGGAGAGTCTG 0.502 14 22 --- --- --- --- PASS CASR 846 broad.mit.edu 37 3 121976229 121976229 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:121976229C>T uc003eev.3 + 3 859 c.487C>T c.(487-489)CCC>TCC p.P163S CASR_uc003eew.3_Missense_Mutation_p.P163S NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 163 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTTCTACATTCCCCAGGTACT 0.567 48 59 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124356067 124356067 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:124356067C>A uc003ehg.2 + 37 5705 c.5578C>A c.(5578-5580)CTA>ATA p.L1860I KALRN_uc003ehi.2_Intron|KALRN_uc003ehk.2_Missense_Mutation_p.L163I|KALRN_uc011bjz.1_5'UTR|KALRN_uc003ehj.2_Intron NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1859 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 CTCCTCTTTGCTAGCAGCCCG 0.473 35 115 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130293249 130293249 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:130293249C>A uc010htl.2 + 7 3458 c.3427C>A c.(3427-3429)CAG>AAG p.Q1143K NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1143 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TGTGGATGACCAGCAGCTCAT 0.527 39 59 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130293250 130293250 + Missense_Mutation SNP A G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:130293250A>G uc010htl.2 + 7 3459 c.3428A>G c.(3427-3429)CAG>CGG p.Q1143R NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1143 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GTGGATGACCAGCAGCTCATT 0.527 38 60 --- --- --- --- PASS TMEM108 66000 broad.mit.edu 37 3 133099870 133099870 + Missense_Mutation SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:133099870T>C uc003eph.2 + 4 1589 c.1315T>C c.(1315-1317)TGG>CGG p.W439R TMEM108_uc003epi.2_Missense_Mutation_p.W439R|TMEM108_uc003epj.1_Missense_Mutation_p.W439R|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.W390R NM_023943 NP_076432 Q6UXF1 TM108_HUMAN transmembrane protein 108 precursor 439 Extracellular (Potential). integral to membrane ovary(2)|skin(2) 4 CGCCGGGACCTGGAAGCCTGG 0.632 12 84 --- --- --- --- PASS XRN1 54464 broad.mit.edu 37 3 142037719 142037719 + Silent SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:142037719T>C uc003eus.2 - 38 4495 c.4428A>G c.(4426-4428)TTA>TTG p.L1476L XRN1_uc010huu.2_Silent_p.L943L|XRN1_uc003eut.2_Silent_p.L1476L|XRN1_uc003euu.2_Silent_p.L1477L NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 1476 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 AGCCATTAGATAATTTTACTT 0.378 16 136 --- --- --- --- PASS CP 1356 broad.mit.edu 37 3 148895720 148895720 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:148895720G>A uc003ewy.3 - 17 3178 c.2925C>T c.(2923-2925)CAC>CAT p.H975H CP_uc011bnr.1_RNA|CP_uc003eww.3_Silent_p.H127H|CP_uc003ewx.3_Silent_p.H756H|CP_uc003ewz.2_Silent_p.H975H NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 975 F5/8 type A 3.|Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) CATCTCCCACGTGCATTGTGA 0.393 25 217 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 150908645 150908645 + Nonsense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:150908645C>A uc003eyp.2 + 13 1933 c.1895C>A c.(1894-1896)TCA>TAA p.S632* MED12L_uc011bnz.1_Nonsense_Mutation_p.S492*|MED12L_uc003eyn.2_Nonsense_Mutation_p.S632*|MED12L_uc003eyo.2_Nonsense_Mutation_p.S632* NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 632 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTCACTGCCTCAACTCGGCCG 0.507 4 117 --- --- --- --- PASS PPM1L 151742 broad.mit.edu 37 3 160474330 160474330 + Silent SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:160474330C>G uc003fdr.2 + 1 335 c.234C>G c.(232-234)CTC>CTG p.L78L NM_139245 NP_640338 Q5SGD2 PPM1L_HUMAN protein phosphatase 1 (formerly 2C)-like 78 Cytoplasmic (Potential). protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1) 1 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TTGATGTGCTCGAGGCCGAGT 0.582 12 56 --- --- --- --- PASS MECOM 2122 broad.mit.edu 37 3 168819910 168819910 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:168819910C>A uc003ffi.3 - 10 2414 c.2145G>T c.(2143-2145)AGG>AGT p.R715S MECOM_uc010hwk.1_Missense_Mutation_p.R729S|MECOM_uc003ffj.3_Missense_Mutation_p.R780S|MECOM_uc011bpi.1_Missense_Mutation_p.R707S|MECOM_uc003ffn.3_Missense_Mutation_p.R715S|MECOM_uc003ffk.2_Missense_Mutation_p.R706S|MECOM_uc003ffl.2_Missense_Mutation_p.R866S|MECOM_uc011bpj.1_Missense_Mutation_p.R903S|MECOM_uc011bpk.1_Missense_Mutation_p.R705S|MECOM_uc010hwn.2_Missense_Mutation_p.R894S NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 715 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 TGGGAGGCGCCCTGAAGTTGA 0.502 125 74 --- --- --- --- PASS TERC 7012 broad.mit.edu 37 3 169482820 169482820 + RNA SNP A T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:169482820A>T uc003ffr.1 - 1 c.29T>A NR_001566 Homo sapiens cDNA clone IMAGE:40002477. 0 AATGGCCACCACCCCTCCCAG 0.632 Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic 9 61 --- --- --- --- PASS NLGN1 22871 broad.mit.edu 37 3 173999027 173999027 + Silent SNP A G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:173999027A>G uc003fio.1 + 7 2829 c.2406A>G c.(2404-2406)GGA>GGG p.G802G NLGN1_uc003fip.1_Silent_p.G802G NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 819 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CATTTACTGGAGGACAGAACA 0.433 35 107 --- --- --- --- PASS CCDC39 339829 broad.mit.edu 37 3 180332791 180332791 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:180332791G>T uc010hxe.2 - 20 2859 c.2744C>A c.(2743-2745)TCT>TAT p.S915Y CCDC39_uc003fkn.2_RNA|TTC14_uc003fkm.2_Intron NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 915 Ser-rich. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TACTAGTGAAGAGGAGGCCGG 0.383 19 11 --- --- --- --- PASS LRRC15 131578 broad.mit.edu 37 3 194080711 194080711 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:194080711C>T uc003ftu.2 - 2 1148 c.1062G>A c.(1060-1062)CAG>CAA p.Q354Q LRRC15_uc003ftt.2_Silent_p.Q360Q NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 354 LRR 13.|Extracellular (Potential). integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) CGTCCAGGTCCTGCAGTGCGT 0.582 76 18 --- --- --- --- PASS TNK2 10188 broad.mit.edu 37 3 195599179 195599179 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:195599179G>A uc003fvu.1 - 10 1962 c.1419C>T c.(1417-1419)CGC>CGT p.R473R TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Silent_p.R505R|TNK2_uc003fvt.1_Silent_p.R536R|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Silent_p.R303R NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 473 Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CCCAGCAGTGGCGGGGGTCAC 0.677 37 36 --- --- --- --- PASS PIGX 54965 broad.mit.edu 37 3 196449387 196449387 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr3:196449387C>T uc010iaj.2 + 3 436 c.155C>T c.(154-156)CCG>CTG p.P52L PIGX_uc003fwx.3_Missense_Mutation_p.P52L|PIGX_uc011btx.1_RNA NM_017861 NP_060331 Q8TBF5 PIGX_HUMAN phosphatidylinositol glycan anchor biosynthesis, 93 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane 0 all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00322) TATGTGGATCCGTATGAGTTG 0.408 23 406 --- --- --- --- PASS NKX3-2 579 broad.mit.edu 37 4 13544056 13544056 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:13544056C>A uc003gmx.2 - 2 639 c.563G>T c.(562-564)GGG>GTG p.G188V NM_001189 NP_001180 P78367 NKX32_HUMAN NK3 homeobox 2 188 Poly-Gly. negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 gcctgccggcccgctgccgcc 0.448 4 3 --- --- --- --- PASS MED28 80306 broad.mit.edu 37 4 17625255 17625255 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:17625255G>A uc003gpi.1 + 4 383 c.371G>A c.(370-372)CGG>CAG p.R124Q MED28_uc003gpj.2_RNA NM_025205 NP_079481 Q9H204 MED28_HUMAN mediator complex subunit 28 124 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|membrane|nucleus actin binding 0 GAATTACAGCGGAAAGATGCA 0.473 15 58 --- --- --- --- PASS C4orf19 55286 broad.mit.edu 37 4 37591946 37591946 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:37591946G>T uc003gsw.3 + 4 452 c.269G>T c.(268-270)GGA>GTA p.G90V C4orf19_uc003gsy.3_Missense_Mutation_p.G90V NM_001104629 NP_001098099 Q8IY42 CD019_HUMAN hypothetical protein LOC55286 90 0 GGGGACGCTGGAGGGGAACAC 0.657 22 29 --- --- --- --- PASS FRYL 285527 broad.mit.edu 37 4 48584548 48584548 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:48584548G>T uc003gyh.1 - 20 2557 c.1952C>A c.(1951-1953)GCA>GAA p.A651E FRYL_uc003gyk.2_Missense_Mutation_p.A651E NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 651 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 CATTTGGGCTGCTTGTTTCCA 0.353 20 38 --- --- --- --- PASS CWH43 80157 broad.mit.edu 37 4 49005876 49005876 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:49005876G>A uc003gyv.2 + 7 1109 c.927G>A c.(925-927)GGG>GGA p.G309G CWH43_uc011bzl.1_Silent_p.G282G NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 309 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 TTAACTCAGGGACAAACCCTG 0.463 4 170 --- --- --- --- PASS UGT2B4 7363 broad.mit.edu 37 4 70346381 70346381 + Missense_Mutation SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:70346381T>C uc003hek.3 - 6 1605 c.1558A>G c.(1558-1560)AGA>GGA p.R520G UGT2B4_uc011cap.1_Missense_Mutation_p.R384G|UGT2B4_uc003hel.3_3'UTR NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 520 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 TTTCCTGTTCTAACAAACTTC 0.418 29 140 --- --- --- --- PASS UGT2B4 7363 broad.mit.edu 37 4 70346383 70346383 + Missense_Mutation SNP A G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:70346383A>G uc003hek.3 - 6 1603 c.1556T>C c.(1555-1557)GTT>GCT p.V519A UGT2B4_uc011cap.1_Missense_Mutation_p.V383A|UGT2B4_uc003hel.3_3'UTR NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 519 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 TCCTGTTCTAACAAACTTCCA 0.418 29 141 --- --- --- --- PASS UGT2A1 10941 broad.mit.edu 37 4 70512823 70512823 + Silent SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:70512823T>C uc003hem.3 - 1 603 c.540A>G c.(538-540)GAA>GAG p.E180E UGT2A1_uc011caq.1_Silent_p.E180E|UGT2A1_uc010ihu.2_Silent_p.E180E|UGT2A1_uc010iht.2_Silent_p.E180E NM_006798 NP_006789 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, 180 Extracellular (Potential). detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity|glucuronosyltransferase activity ovary(1) 1 CACAGTGCTTTTCCACTGTTG 0.413 20 59 --- --- --- --- PASS SMR3A 26952 broad.mit.edu 37 4 71227859 71227859 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:71227859C>A uc003hfg.1 + 2 108 c.27C>A c.(25-27)GGC>GGA p.G9G SMR3B_uc011cas.1_Silent_p.G9G NM_012390 NP_036522 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3 9 extracellular region 0 all_hematologic(202;0.196) GGATCTTGGGCCTTTGGGCTC 0.338 15 197 --- --- --- --- PASS CXCL5 6374 broad.mit.edu 37 4 74863950 74863950 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:74863950C>A uc003hhk.2 - 2 333 c.215G>T c.(214-216)GGC>GTC p.G72V NM_002994 NP_002985 P42830 CXCL5_HUMAN chemokine (C-X-C motif) ligand 5 precursor 72 cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction extracellular space chemokine activity 0 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) GCACTGTGGGCCTATGGCGAA 0.532 41 69 --- --- --- --- PASS SHROOM3 57619 broad.mit.edu 37 4 77662653 77662653 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:77662653C>A uc011cbx.1 + 5 4280 c.3327C>A c.(3325-3327)CCC>CCA p.P1109P SHROOM3_uc011cbz.1_Silent_p.P933P|SHROOM3_uc003hkf.1_Silent_p.P984P|SHROOM3_uc003hkg.2_Silent_p.P887P NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1109 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) TCCAGGAGCCCGGGCCACTGC 0.726 2 1 --- --- --- --- PASS BMPR1B 658 broad.mit.edu 37 4 96075765 96075765 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:96075765G>A uc003htm.3 + 13 1724 c.1450G>A c.(1450-1452)GCC>ACC p.A484T BMPR1B_uc010ilb.2_Missense_Mutation_p.A484T|BMPR1B_uc003htn.3_Missense_Mutation_p.A484T NM_001203 NP_001194 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 484 Cytoplasmic (Potential).|Protein kinase. BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity lung(4)|skin(2)|stomach(1)|breast(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) AAGGCTGACAGCCCTGCGGGT 0.448 23 89 --- --- --- --- PASS COL25A1 84570 broad.mit.edu 37 4 109767295 109767295 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:109767295C>T uc003hze.1 - 27 2046 c.1515G>A c.(1513-1515)CCG>CCA p.P505P COL25A1_uc003hzg.2_Silent_p.P505P|COL25A1_uc003hzd.2_Intron|COL25A1_uc003hzf.2_Silent_p.P263P NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 505 Extracellular (Potential).|Collagen-like 6. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) ATAAACATACCGGTAATCCAG 0.343 26 96 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126336607 126336607 + Silent SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:126336607T>C uc003ifj.3 + 5 6489 c.6489T>C c.(6487-6489)ATT>ATC p.I2163I FAT4_uc011cgp.1_Silent_p.I461I NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2163 Cadherin 21.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AAGTGGAGATTAATGAAAACA 0.393 52 104 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126370860 126370860 + Missense_Mutation SNP A G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:126370860A>G uc003ifj.3 + 9 8689 c.8689A>G c.(8689-8691)ACA>GCA p.T2897A FAT4_uc011cgp.1_Missense_Mutation_p.T1195A|FAT4_uc003ifi.1_Missense_Mutation_p.T375A NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2897 Cadherin 28.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GGTATTTGCAACAGATCCTGA 0.363 68 130 --- --- --- --- PASS LRBA 987 broad.mit.edu 37 4 151765280 151765280 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:151765280C>T uc010ipj.2 - 28 5015 c.4541G>A c.(4540-4542)CGG>CAG p.R1514Q LRBA_uc003ilt.3_Missense_Mutation_p.R173Q|LRBA_uc003ilu.3_Missense_Mutation_p.R1514Q NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1514 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TGCCCTAAGCCGATTAATATC 0.368 8 218 --- --- --- --- PASS ASB5 140458 broad.mit.edu 37 4 177136798 177136798 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr4:177136798G>C uc003iuq.1 - 7 959 c.943C>G c.(943-945)CAA>GAA p.Q315E ASB5_uc003iup.1_Missense_Mutation_p.Q262E NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 315 SOCS box. intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) AGCTGGAGTTGTGGGATAAGG 0.373 19 82 --- --- --- --- PASS SLC6A18 348932 broad.mit.edu 37 5 1244359 1244359 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr5:1244359C>G uc003jby.1 + 10 1490 c.1367C>G c.(1366-1368)GCC>GGC p.A456G NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 456 Helical; Name=9; (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TTCCTCTCCGCCACCTGCTTC 0.607 82 97 --- --- --- --- PASS FBXL7 23194 broad.mit.edu 37 5 15936904 15936904 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr5:15936904G>T uc003jfn.1 + 4 1566 c.1085G>T c.(1084-1086)CGG>CTG p.R362L NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 362 LRR 8. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CACTGCGGCCGGGTCACCGAC 0.677 9 11 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19571730 19571730 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr5:19571730G>C uc003jgc.2 - 7 1588 c.1211C>G c.(1210-1212)ACA>AGA p.T404R CDH18_uc003jgd.2_Missense_Mutation_p.T404R|CDH18_uc011cnm.1_Missense_Mutation_p.T404R NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 404 Extracellular (Potential).|Cadherin 4. 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) TGCCAAAACTGTACCAACGAC 0.408 64 119 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24535933 24535933 + Splice_Site SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr5:24535933T>C uc003jgr.1 - 4 859 c.527_splice c.e4-1 p.G176_splice CDH10_uc011cnu.1_Splice_Site NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CAGAAGTACCTGAAGTATCCA 0.443 HNSCC(23;0.051) 30 63 --- --- --- --- PASS C5orf22 55322 broad.mit.edu 37 5 31538493 31538493 + Silent SNP A G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr5:31538493A>G uc003jhj.3 + 4 631 c.504A>G c.(502-504)CAA>CAG p.Q168Q C5orf22_uc011cnw.1_Intron|C5orf22_uc003jhk.3_Intron NM_018356 NP_060826 Q49AR2 CE022_HUMAN hypothetical protein LOC55322 168 ovary(2) 2 GTAACAATCAAGAAGAAAACG 0.393 49 111 --- --- --- --- PASS POLK 51426 broad.mit.edu 37 5 74892912 74892912 + Silent SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr5:74892912G>T uc003kdw.2 + 13 2490 c.2394G>T c.(2392-2394)GTG>GTT p.V798V POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Silent_p.V600V|POLK_uc003kec.2_Silent_p.V708V|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Silent_p.V708V NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 798 UBZ-type 2. DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) ATGTGCATGTGGATGTTTGCT 0.363 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 67 68 --- --- --- --- PASS MAN2A1 4124 broad.mit.edu 37 5 109181686 109181686 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr5:109181686G>T uc003kou.1 + 18 3784 c.2821G>T c.(2821-2823)GGG>TGG p.G941W NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 941 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TCAGTCATTAGGGGTTTCGAG 0.418 96 110 --- --- --- --- PASS RAD50 10111 broad.mit.edu 37 5 131953808 131953808 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr5:131953808C>T uc003kxi.2 + 21 3598 c.3211C>T c.(3211-3213)CAT>TAT p.H1071Y RAD50_uc003kxh.2_Missense_Mutation_p.H932Y NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 1071 Potential. DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAAAAGAAATCATAATTTGGC 0.323 Homologous_recombination 121 93 --- --- --- --- PASS PCDHA1 56147 broad.mit.edu 37 5 140167658 140167658 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr5:140167658C>T uc003lhb.2 + 1 1783 c.1783C>T c.(1783-1785)CGC>TGC p.R595C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R595C NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 595 Cadherin 6.|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) GGCGAAGGTGCGCGCAGTGGA 0.692 37 41 --- --- --- --- PASS PCDHB5 26167 broad.mit.edu 37 5 140516576 140516576 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr5:140516576C>T uc003liq.2 + 1 1777 c.1560C>T c.(1558-1560)TAC>TAT p.Y520Y NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 520 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCTGGACTACGAGGCCCTGC 0.701 24 64 --- --- --- --- PASS PCDHGA5 56110 broad.mit.edu 37 5 140745458 140745458 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr5:140745458G>T uc003lju.1 + 1 1561 c.1561G>T c.(1561-1563)GAC>TAC p.D521Y 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_uc011das.1_Missense_Mutation_p.D521Y NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 521 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGATCCTTCGACTATGAGCA 0.542 146 130 --- --- --- --- PASS PCDHGA12 26025 broad.mit.edu 37 5 140811929 140811929 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr5:140811929C>T uc003lkt.1 + 1 1772 c.1603C>T c.(1603-1605)CGG>TGG p.R535W PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R535W NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 535 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTGATGGCGCGGGACAACGG 0.602 80 72 --- --- --- --- PASS KCNIP1 30820 broad.mit.edu 37 5 170139878 170139878 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr5:170139878C>A uc003mas.2 + 2 611 c.82C>A c.(82-84)CAG>AAG p.Q28K KCNIP1_uc003map.2_Intron|KCNIP1_uc003mat.2_Intron|KCNIP1_uc010jjp.2_Intron|KCNIP1_uc010jjq.2_Intron NM_001034837 NP_001030009 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 isoform 1 28 detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity skin(2) 2 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTGGTATTACCAGTATCAGAG 0.378 64 55 --- --- --- --- PASS STC2 8614 broad.mit.edu 37 5 172752872 172752872 + Missense_Mutation SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr5:172752872T>C uc003mco.1 - 2 1603 c.293A>G c.(292-294)CAG>CGG p.Q98R STC2_uc003mcn.1_Missense_Mutation_p.Q13R NM_003714 NP_003705 O76061 STC2_HUMAN stanniocalcin 2 precursor 98 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GATTTTTACCTGGGCATCAAA 0.428 257 234 --- --- --- --- PASS HIVEP1 3096 broad.mit.edu 37 6 12123174 12123174 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:12123174G>T uc003nac.2 + 4 3325 c.3146G>T c.(3145-3147)GGA>GTA p.G1049V HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1049 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AATGAAAGTGGAACATCTCCA 0.448 35 109 --- --- --- --- PASS RNF182 221687 broad.mit.edu 37 6 13977368 13977368 + Silent SNP T G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:13977368T>G uc003nbe.2 + 3 436 c.18T>G c.(16-18)CCT>CCG p.P6P RNF182_uc003nbf.2_Silent_p.P6P|RNF182_uc003nbg.2_Silent_p.P6P NM_152737 NP_689950 Q8N6D2 RN182_HUMAN ring finger protein 182 6 cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) GTCAACCTCCTGAAGACACTG 0.453 36 121 --- --- --- --- PASS HLA-G 3135 broad.mit.edu 37 6 29797253 29797253 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:29797253G>T uc003nnw.2 + 5 856 c.678G>T c.(676-678)AGG>AGT p.R226S HLA-G_uc011dmb.1_Missense_Mutation_p.R198S|HLA-G_uc003raj.3_Missense_Mutation_p.R231S|HLA-G_uc003nnz.3_Missense_Mutation_p.R134S|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 226 Extracellular (Potential).|Ig-like C1-type.|Alpha-3. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity ovary(3)|central_nervous_system(1) 4 CCACCCTGAGGTGCTGGGCCC 0.592 46 116 --- --- --- --- PASS CCHCR1 54535 broad.mit.edu 37 6 31110877 31110877 + Missense_Mutation SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:31110877T>C uc003nsr.3 - 17 2210 c.2087A>G c.(2086-2088)TAC>TGC p.Y696C CCHCR1_uc011dne.1_Intron|CCHCR1_uc003nsq.3_Missense_Mutation_p.Y749C|CCHCR1_uc003nsp.3_Missense_Mutation_p.Y785C NM_019052 NP_061925 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 isoform 696 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding skin(1) 1 CTGCTGCTTGTAACGGGAGAG 0.552 52 207 --- --- --- --- PASS BAT3 7917 broad.mit.edu 37 6 31608925 31608925 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:31608925C>A uc003nvg.3 - 19 2967 c.2653G>T c.(2653-2655)GGG>TGG p.G885W BAT3_uc003nvf.3_Missense_Mutation_p.G879W|BAT3_uc003nvh.3_Missense_Mutation_p.G879W|BAT3_uc003nvi.3_Missense_Mutation_p.G879W|BAT3_uc011dnw.1_Missense_Mutation_p.G879W|BAT3_uc011dnx.1_Missense_Mutation_p.G753W NM_004639 NP_004630 P46379 BAG6_HUMAN HLA-B associated transcript-3 isoform a 885 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding 0 TGCTGTCCCCCCAAGCAGTGC 0.512 34 107 --- --- --- --- PASS PI16 221476 broad.mit.edu 37 6 36929663 36929663 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:36929663G>A uc003ona.2 + 4 833 c.505G>A c.(505-507)GGG>AGG p.G169R PI16_uc003omz.1_Missense_Mutation_p.G169R|PI16_uc003onb.2_Missense_Mutation_p.G169R|PI16_uc011dts.1_5'UTR NM_153370 NP_699201 Q6UXB8 PI16_HUMAN protease inhibitor 16 precursor 169 Extracellular (Potential). extracellular region|integral to membrane peptidase inhibitor activity 0 CTCCTGTAGGGGGAACGTGAA 0.617 18 93 --- --- --- --- PASS TRERF1 55809 broad.mit.edu 37 6 42227438 42227438 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:42227438C>A uc003osd.2 - 9 2471 c.1908G>T c.(1906-1908)CCG>CCT p.P636P TRERF1_uc011duq.1_Silent_p.P553P|TRERF1_uc003osb.2_Silent_p.P392P|TRERF1_uc003osc.2_Silent_p.P392P|TRERF1_uc003ose.2_Silent_p.P656P NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 636 Pro-rich.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGGGCACACTCGGCTGATGCT 0.587 35 117 --- --- --- --- PASS C6orf154 221424 broad.mit.edu 37 6 43475243 43475243 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:43475243C>T uc003ovk.1 - 5 1732 c.831G>A c.(829-831)CGG>CGA p.R277R C6orf154_uc003ovj.1_Silent_p.R86R NM_001012974 NP_001012992 Q5JTD7 CF154_HUMAN hypothetical protein LOC221424 277 0 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) CAGCAGGCTCCCGCCCTCTCT 0.632 14 41 --- --- --- --- PASS TDRD6 221400 broad.mit.edu 37 6 46658129 46658129 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:46658129G>T uc003oyj.2 + 1 2264 c.2264G>T c.(2263-2265)TGC>TTC p.C755F TDRD6_uc010jze.2_Missense_Mutation_p.C749F NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 755 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) ATGCAGAATTGCTTGGAAATT 0.403 15 53 --- --- --- --- PASS GPR116 221395 broad.mit.edu 37 6 46828476 46828476 + Silent SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:46828476G>C uc003oyo.3 - 16 2644 c.2355C>G c.(2353-2355)ACC>ACG p.T785T GPR116_uc011dwj.1_Silent_p.T340T|GPR116_uc011dwk.1_Silent_p.T214T|GPR116_uc003oyp.3_Silent_p.T643T|GPR116_uc003oyq.3_Silent_p.T785T|GPR116_uc010jzi.1_Silent_p.T457T NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 785 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) AATTTACTTGGGTTGGAACTG 0.408 22 87 --- --- --- --- PASS GPR110 266977 broad.mit.edu 37 6 46991822 46991822 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:46991822G>C uc003oyt.2 - 5 608 c.409C>G c.(409-411)CTC>GTC p.L137V GPR110_uc011dwl.1_Translation_Start_Site|GPR110_uc003oyu.1_Missense_Mutation_p.L137V NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 137 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 AGGTTGTTGAGATGACATTCA 0.512 11 51 --- --- --- --- PASS CRISP2 7180 broad.mit.edu 37 6 49665584 49665584 + Missense_Mutation SNP T A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:49665584T>A uc003ozq.2 - 8 760 c.504A>T c.(502-504)CAA>CAT p.Q168H CRISP2_uc003ozl.2_Missense_Mutation_p.Q168H|CRISP2_uc003ozn.2_Missense_Mutation_p.Q168H|CRISP2_uc003ozr.2_Missense_Mutation_p.Q168H|CRISP2_uc003ozo.2_Missense_Mutation_p.Q168H|CRISP2_uc003ozm.2_Missense_Mutation_p.Q168H|CRISP2_uc003ozp.2_Missense_Mutation_p.Q168H NM_001142408 NP_001135880 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 precursor 168 extracellular space skin(1) 1 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CAGGACAATATTGGCAAACAT 0.333 28 125 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51920404 51920404 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:51920404C>G uc003pah.1 - 19 2093 c.1817G>C c.(1816-1818)CGG>CCG p.R606P PKHD1_uc003pai.2_Missense_Mutation_p.R606P NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 606 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CTGATCTAGCCGATAGCCCTT 0.552 10 36 --- --- --- --- PASS PAQR8 85315 broad.mit.edu 37 6 52268189 52268189 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:52268189C>A uc003pao.3 + 2 352 c.178C>A c.(178-180)CAC>AAC p.H60N NM_133367 NP_588608 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member 60 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding 0 Lung NSC(77;0.0875) CCCCACGGGGCACGAGTGGCG 0.597 21 42 --- --- --- --- PASS LGSN 51557 broad.mit.edu 37 6 63995609 63995609 + Silent SNP A G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:63995609A>G uc003peh.2 - 3 247 c.213T>C c.(211-213)TCT>TCC p.S71S LGSN_uc003pei.2_Silent_p.S71S|LGSN_uc003pej.1_Intron NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 71 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) GTTTCATTCTAGAAGAGAGTT 0.438 16 39 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70639375 70639375 + Missense_Mutation SNP A C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:70639375A>C uc003pfc.1 + 6 566 c.449A>C c.(448-450)GAG>GCG p.E150A COL19A1_uc010kam.1_Missense_Mutation_p.E46A NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 150 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 CAAGCCACAGAGGGAGATGTG 0.353 21 56 --- --- --- --- PASS MYO6 4646 broad.mit.edu 37 6 76545620 76545620 + Missense_Mutation SNP A T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:76545620A>T uc003pih.1 + 7 779 c.500A>T c.(499-501)TAC>TTC p.Y167F MYO6_uc003pig.1_Missense_Mutation_p.Y167F|MYO6_uc003pii.1_Missense_Mutation_p.Y167F NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 167 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) TTAAACAGATACCTGACTGAA 0.284 15 51 --- --- --- --- PASS ZNF292 23036 broad.mit.edu 37 6 87969153 87969153 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:87969153G>C uc003plm.3 + 8 5847 c.5806G>C c.(5806-5808)GAA>CAA p.E1936Q NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 1936 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AATGATTCTTGAAATTAAGAA 0.348 5 7 --- --- --- --- PASS SPACA1 81833 broad.mit.edu 37 6 88769251 88769251 + Silent SNP A C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:88769251A>C uc003pmn.2 + 5 672 c.555A>C c.(553-555)ACA>ACC p.T185T NM_030960 NP_112222 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 precursor 185 Extracellular (Potential). integral to membrane 0 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) AGTGTGACACACTGGATAATA 0.343 19 48 --- --- --- --- PASS GPR6 2830 broad.mit.edu 37 6 110300817 110300817 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:110300817C>A uc011eaw.1 + 2 682 c.502C>A c.(502-504)CTG>ATG p.L168M GPR6_uc011eav.1_Missense_Mutation_p.L183M|GPR6_uc003ptu.2_Missense_Mutation_p.L168M NM_005284 NP_005275 P46095 GPR6_HUMAN G protein-coupled receptor 6 168 Cytoplasmic (Potential). integral to plasma membrane 0 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) GGACCGCTACCTGTCCCTGTA 0.652 15 65 --- --- --- --- PASS FRK 2444 broad.mit.edu 37 6 116289834 116289834 + Nonsense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:116289834G>A uc003pwi.1 - 3 982 c.535C>T c.(535-537)CGA>TGA p.R179* NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 179 SH2. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) ATTCTTCTTCGCGTGAGAAAA 0.403 38 133 --- --- --- --- PASS C6orf174 387104 broad.mit.edu 37 6 127797137 127797137 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:127797137G>T uc003qbd.2 - 6 2899 c.2034C>A c.(2032-2034)AAC>AAA p.N678K C6orf174_uc003qbc.2_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 678 Potential. integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) ACTTGTACTTGTTGAGCTCCG 0.662 32 94 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129807696 129807696 + Silent SNP T A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:129807696T>A uc003qbn.2 + 55 7932 c.7827T>A c.(7825-7827)ATT>ATA p.I2609I LAMA2_uc003qbo.2_Silent_p.I2605I|uc003qbq.2_RNA NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2609 Laminin G-like 3. 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) TGAGGAAAATTGTGATCAGAC 0.433 31 70 --- --- --- --- PASS IL20RA 53832 broad.mit.edu 37 6 137323265 137323265 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:137323265C>T uc003qhj.2 - 7 1525 c.1092G>A c.(1090-1092)TCG>TCA p.S364S IL20RA_uc011edl.1_Silent_p.S315S|IL20RA_uc003qhk.2_Silent_p.S253S|IL20RA_uc003qhi.2_Silent_p.S96S NM_014432 NP_055247 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha precursor 364 Cytoplasmic (Potential). integral to membrane receptor activity ovary(2)|skin(2) 4 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) CCATCAAATGCGAAGCATACC 0.483 34 85 --- --- --- --- PASS FNDC1 84624 broad.mit.edu 37 6 159653564 159653564 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr6:159653564C>G uc010kjv.2 + 11 2220 c.2020C>G c.(2020-2022)CGC>GGC p.R674G FNDC1_uc010kjw.1_Missense_Mutation_p.R559G NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 674 Ser-rich. extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GTCCCCCAGCCGCCAGTCCCC 0.706 6 9 --- --- --- --- PASS NUDT1 4521 broad.mit.edu 37 7 2290629 2290629 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:2290629C>T uc003slp.1 + 5 635 c.533C>T c.(532-534)ACG>ATG p.T178M NUDT1_uc003slq.1_Missense_Mutation_p.T155M|NUDT1_uc003slr.1_Missense_Mutation_p.T155M|NUDT1_uc003sls.1_Missense_Mutation_p.T178M|NUDT1_uc003slt.1_Missense_Mutation_p.T155M|NUDT1_uc003slu.1_Missense_Mutation_p.T178M|NUDT1_uc003slv.1_Missense_Mutation_p.T155M NM_198949 NP_945187 P36639 8ODP_HUMAN nudix-type motif 1 isoform p22 196 DNA protection|DNA repair|response to oxidative stress cytoplasm 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding 0 Ovarian(82;0.0253)|Melanoma(862;0.155) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15) GAGGTGGACACGGTCTAGCGG 0.602 Direct_reversal_of_damage|Modulation_of_nucleotide_pools 28 169 --- --- --- --- PASS GPR141 353345 broad.mit.edu 37 7 37780012 37780012 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:37780012C>A uc003tfm.1 + 1 17 c.17C>A c.(16-18)ACC>AAC p.T6N uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 6 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 GGCCACAATACCTCCAGGAAT 0.468 90 235 --- --- --- --- PASS POM121L12 285877 broad.mit.edu 37 7 53103474 53103474 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:53103474C>T uc003tpz.2 + 1 126 c.110C>T c.(109-111)CCC>CTC p.P37L NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 37 0 AGCAGGTCACCCAGCACGCCC 0.682 16 35 --- --- --- --- PASS STAG3L4 64940 broad.mit.edu 37 7 66774573 66774573 + Silent SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:66774573G>T uc003tvt.3 + 4 582 c.315G>T c.(313-315)CTG>CTT p.L105L STAG3L4_uc010laj.2_RNA NM_022906 NP_075057 Q8TBR4 STG34_HUMAN stromal antigen 3-like 4 105 0 Lung NSC(55;0.0839)|all_lung(88;0.181) TGACCTCCCTGGTAAGAGTTG 0.468 166 148 --- --- --- --- PASS FKBP6 8468 broad.mit.edu 37 7 72742586 72742586 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:72742586C>T uc003tya.2 + 2 198 c.66C>T c.(64-66)TAC>TAT p.Y22Y FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Silent_p.Y17Y|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank NM_003602 NP_003593 O75344 FKBP6_HUMAN FK506 binding protein 6 isoform a 22 protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) AGTCCCTGTACGAGCGGTTAA 0.632 9 62 --- --- --- --- PASS SEMA3E 9723 broad.mit.edu 37 7 83023654 83023654 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:83023654C>A uc003uhy.1 - 13 1925 c.1459G>T c.(1459-1461)GAT>TAT p.D487Y NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 487 Sema. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) GGAACTGGATCCTGAAATTTT 0.249 59 62 --- --- --- --- PASS CDK14 5218 broad.mit.edu 37 7 90226026 90226026 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:90226026C>A uc003uky.2 + 1 307 c.85C>A c.(85-87)CGC>AGC p.R29S CDK14_uc003ukt.1_Intron|CDK14_uc003ukv.1_Intron|CDK14_uc003uku.1_Intron|CDK14_uc003ukx.1_Intron NM_012395 NP_036527 O94921 CDK14_HUMAN PFTAIRE protein kinase 1 29 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 GAGTTTCAGTCGCATTGGTGA 0.448 13 50 --- --- --- --- PASS HEPACAM2 253012 broad.mit.edu 37 7 92837893 92837893 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:92837893C>T uc003umm.2 - 4 1035 c.1012G>A c.(1012-1014)GGA>AGA p.G338R HEPACAM2_uc003uml.2_Missense_Mutation_p.G326R|HEPACAM2_uc010lff.2_Missense_Mutation_p.G326R|HEPACAM2_uc011khy.1_Missense_Mutation_p.G361R NM_001039372 NP_001034461 A8MVW5 HECA2_HUMAN HEPACAM family member 2 isoform 1 338 Extracellular (Potential). integral to membrane ovary(3)|breast(1)|kidney(1) 5 TCACACATACCTACGGAAGTG 0.413 58 175 --- --- --- --- PASS BUD31 8896 broad.mit.edu 37 7 99013774 99013774 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:99013774G>A uc003uqf.2 + 4 309 c.108G>A c.(106-108)CCG>CCA p.P36P BUD31_uc011kiu.1_Silent_p.P36P|BUD31_uc011kiv.1_Silent_p.P36P|BUD31_uc003uqg.3_Silent_p.P36P NM_003910 NP_003901 P41223 BUD31_HUMAN G10 protein 36 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) AAACAGAACCGCATGAGGGAA 0.433 13 138 --- --- --- --- PASS CYP3A43 64816 broad.mit.edu 37 7 99441866 99441866 + Splice_Site SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:99441866G>A uc003urx.1 + 4 421 c.318_splice c.e4+1 p.M106_splice CYP3A43_uc003ury.1_Splice_Site_p.M106_splice|CYP3A43_uc003urz.1_Splice_Site_p.M106_splice|CYP3A43_uc003usa.1_Splice_Site|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Intron NM_057095 NP_476436 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, 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) AAACCAGATGGTAGGCCTATA 0.264 9 139 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100385658 100385658 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:100385658G>A uc003uwj.2 + 39 7292 c.7127G>A c.(7126-7128)CGC>CAC p.R2376H ZAN_uc003uwk.2_Missense_Mutation_p.R2376H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.R426H NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2376 VWFD 4.|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) GTGGAAGGACGCAACAAGATG 0.567 19 140 --- --- --- --- PASS ST7 7982 broad.mit.edu 37 7 116739883 116739883 + Silent SNP A T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:116739883A>T uc003vin.2 + 2 433 c.219A>T c.(217-219)ATA>ATT p.I73I ST7_uc011knl.1_Silent_p.I73I|ST7_uc003vio.2_Silent_p.I73I|ST7_uc003viq.2_Silent_p.I27I|ST7_uc011knm.1_Silent_p.I30I|ST7_uc003vir.2_Silent_p.I21I|ST7OT2_uc003viu.2_Intron|ST7_uc011knn.1_Silent_p.I21I NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b 73 Helical; (Potential). integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CCTCACTAATATCAGGGCTTA 0.318 41 54 --- --- --- --- PASS WASL 8976 broad.mit.edu 37 7 123332580 123332580 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:123332580C>A uc003vkz.2 - 9 1496 c.1168G>T c.(1168-1170)GGC>TGC p.G390C NM_003941 NP_003932 O00401 WASL_HUMAN Wiskott-Aldrich syndrome gene-like protein 390 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity 0 GAAGGCAGGCCAGGCGGGGGC 0.592 26 75 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131865381 131865381 + Nonsense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:131865381G>T uc003vra.3 - 19 3832 c.3603C>A c.(3601-3603)TGC>TGA p.C1201* NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1201 IPT/TIG 4.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 TGGGGGACTCGCAGAGCAGCT 0.612 5 53 --- --- --- --- PASS DGKI 9162 broad.mit.edu 37 7 137531210 137531210 + Nonsense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:137531210G>T uc003vtt.2 - 1 400 c.399C>A c.(397-399)TAC>TAA p.Y133* DGKI_uc003vtu.2_5'UTR NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 133 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 GCACCTACCTGTACGAGACCT 0.647 3 30 --- --- --- --- PASS ATP6V0A4 50617 broad.mit.edu 37 7 138394385 138394385 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:138394385C>T uc003vuf.2 - 20 2651 c.2413G>A c.(2413-2415)GCC>ACC p.A805T ATP6V0A4_uc003vug.2_Missense_Mutation_p.A805T|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.A805T NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 805 Cytoplasmic (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 AGTCGCAGGGCGTGCAGGAAA 0.378 66 253 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138566135 138566135 + Silent SNP T G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:138566135T>G uc011kql.1 - 11 4277 c.4228A>C c.(4228-4230)AGA>CGA p.R1410R KIAA1549_uc011kqi.1_Silent_p.R194R|KIAA1549_uc003vuk.3_Silent_p.R1360R|KIAA1549_uc011kqj.1_Silent_p.R1410R|KIAA1549_uc011kqk.1_Silent_p.R194R NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1410 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 AATAATAACCTTCCTCTGTGA 0.502 O BRAF pilocytic astrocytoma 18 80 --- --- --- --- PASS HIPK2 28996 broad.mit.edu 37 7 139257879 139257879 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:139257879C>T uc003vvf.3 - 15 3565 c.3391G>A c.(3391-3393)GTG>ATG p.V1131M HIPK2_uc003vvd.3_Missense_Mutation_p.V1104M NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 isoform 1131 Autoinhibitory domain (AID). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding ovary(3)|central_nervous_system(3)|skin(1) 7 Melanoma(164;0.205) GTGTGCTGCACGGTGTGGCGC 0.711 5 11 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 142498768 142498768 + RNA SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:142498768G>C uc011ksh.1 + 3 c.147G>C uc011ksi.1_RNA|uc003vzw.1_RNA|uc010loj.1_RNA|uc003wad.2_RNA|uc003wag.1_3'UTR|uc003wbe.3_RNA|uc003wbf.3_RNA|uc003wbg.3_RNA|uc003wbh.3_Missense_Mutation_p.E61D|uc003wbi.3_RNA|uc003wbj.3_RNA|uc003wbm.3_RNA|uc003wbn.3_RNA|uc010los.2_RNA Homo sapiens mRNA for T-cell receptor beta chain, partial cds, clone:TCRVB.3. CTGTGTTTGAGCCATCAGAAG 0.572 9 102 --- --- --- --- PASS TAS2R60 338398 broad.mit.edu 37 7 143141257 143141257 + Missense_Mutation SNP A G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:143141257A>G uc011ktg.1 + 1 712 c.712A>G c.(712-714)AGT>GGT p.S238G uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 238 Helical; Name=6; (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) CCGAGAGCCCAGTGTGCAGGC 0.483 36 127 --- --- --- --- PASS OR2A5 393046 broad.mit.edu 37 7 143748276 143748276 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:143748276C>T uc011ktw.1 + 1 782 c.782C>T c.(781-783)GCC>GTC p.A261V NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) ATGTACATGGCCCCCAAGTCC 0.567 71 95 --- --- --- --- PASS ABP1 26 broad.mit.edu 37 7 150554701 150554701 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:150554701C>T uc003why.1 + 3 5361 c.1143C>T c.(1141-1143)GTC>GTT p.V381V ABP1_uc003whz.1_Silent_p.V381V|ABP1_uc003wia.1_Silent_p.V381V NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 381 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) TGGGCAGCGTCACTCATGAGT 0.607 23 100 --- --- --- --- PASS KCNH2 3757 broad.mit.edu 37 7 150644067 150644067 + Silent SNP G A A rs41312087 byFrequency TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:150644067G>A uc003wic.2 - 14 3241 c.3228C>T c.(3226-3228)CCC>CCT p.P1076P KCNH2_uc003wib.2_Silent_p.P736P|KCNH2_uc011kux.1_Silent_p.P980P NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 1076 Cytoplasmic (Potential). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CACTGTAGGCGGGCGGGACCA 0.672 26 42 --- --- --- --- PASS ABCF2 10061 broad.mit.edu 37 7 150916197 150916197 + Nonsense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr7:150916197G>A uc003wjp.2 - 8 1081 c.970C>T c.(970-972)CAG>TAG p.Q324* ABCF2_uc003wjo.1_Nonsense_Mutation_p.Q324* NM_007189 NP_009120 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F, member 2 324 ABC transporter 1. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCTTCATCTGGTTCTCCTCC 0.512 42 218 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 4495076 4495076 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:4495076C>A uc011kwk.1 - 2 480 c.90G>T c.(88-90)CAG>CAT p.Q30H NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 30 Extracellular (Potential). 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) CTCCACAGTTCTGACCTGGAA 0.408 7 36 --- --- --- --- PASS DLC1 10395 broad.mit.edu 37 8 12957314 12957314 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:12957314G>A uc003wwm.2 - 9 2976 c.2532C>T c.(2530-2532)CAC>CAT p.H844H DLC1_uc003wwk.1_Silent_p.H407H|DLC1_uc003wwl.1_Silent_p.H441H|DLC1_uc011kxx.1_Silent_p.H333H NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 844 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 GGCCAGGGCCGTGGAAGCTTC 0.572 40 32 --- --- --- --- PASS SLC7A2 6542 broad.mit.edu 37 8 17415842 17415842 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:17415842G>T uc011kyc.1 + 8 1403 c.1234G>T c.(1234-1236)GAC>TAC p.D412Y SLC7A2_uc011kyd.1_Missense_Mutation_p.D451Y|SLC7A2_uc011kye.1_Missense_Mutation_p.D452Y|SLC7A2_uc011kyf.1_Missense_Mutation_p.D412Y NM_001008539 NP_001008539 P52569 CTR2_HUMAN solute carrier family 7, member 2 isoform 2 412 Helical; (Potential). cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity ovary(2)|skin(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) GGCGCTTGTGGACATGATGTC 0.512 25 62 --- --- --- --- PASS LZTS1 11178 broad.mit.edu 37 8 20112359 20112359 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:20112359G>C uc003wzr.2 - 1 445 c.334C>G c.(334-336)CAG>GAG p.Q112E LZTS1_uc010ltg.1_Missense_Mutation_p.Q112E NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 112 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) ATTTCTAGCTGATTGGAGAAG 0.597 5 32 --- --- --- --- PASS TMEM66 51669 broad.mit.edu 37 8 29927377 29927377 + Missense_Mutation SNP A T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:29927377A>T uc003xhs.2 - 3 665 c.481T>A c.(481-483)TAT>AAT p.Y161N TMEM66_uc003xht.2_Missense_Mutation_p.Y161N|TMEM66_uc003xhu.2_Missense_Mutation_p.Y125N|TMEM66_uc003xhv.2_5'UTR NM_016127 NP_057211 Q96BY9 TMM66_HUMAN transmembrane protein 66 precursor 161 integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) TTATAATAATAATCAGAGAAA 0.433 34 63 --- --- --- --- PASS WHSC1L1 54904 broad.mit.edu 37 8 38189054 38189054 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:38189054C>A uc003xli.2 - 5 1478 c.960G>T c.(958-960)GCG>GCT p.A320A WHSC1L1_uc011lbm.1_Silent_p.A320A|WHSC1L1_uc010lwe.2_Silent_p.A320A|WHSC1L1_uc003xlj.2_Silent_p.A320A NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 320 PWWP 1. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CATGAACCCACGCCCTCTCTG 0.408 T NUP98 AML 52 39 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55542501 55542501 + Missense_Mutation SNP A C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:55542501A>C uc003xsd.1 + 4 6207 c.6059A>C c.(6058-6060)AAT>ACT p.N2020T RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 2020 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GAAGAAGGTAATTTAAAGAAA 0.308 21 111 --- --- --- --- PASS ARMC1 55156 broad.mit.edu 37 8 66525572 66525572 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:66525572C>T uc003xvl.2 - 4 607 c.372G>A c.(370-372)ATG>ATA p.M124I ARMC1_uc011leo.1_Intron NM_018120 NP_060590 Q9NVT9 ARMC1_HUMAN armadillo repeat-containing protein 124 metal ion transport metal ion binding skin(1) 1 Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235) GACGTGAATTCATCTCATTAA 0.398 36 134 --- --- --- --- PASS CSPP1 79848 broad.mit.edu 37 8 68049816 68049816 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:68049816G>T uc003xxi.2 + 17 2074 c.2043G>T c.(2041-2043)AGG>AGT p.R681S CSPP1_uc003xxg.1_Missense_Mutation_p.R673S|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.R646S|CSPP1_uc003xxk.2_Missense_Mutation_p.R352S NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 681 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) CTCCTCTCAGGGATGCAAAAG 0.328 11 22 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77616580 77616580 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:77616580C>T uc003yav.2 + 2 644 c.257C>T c.(256-258)GCC>GTC p.A86V ZFHX4_uc003yat.1_Missense_Mutation_p.A86V|ZFHX4_uc003yau.1_Missense_Mutation_p.A86V|ZFHX4_uc003yaw.1_Missense_Mutation_p.A86V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 86 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) AACGAATGTGCCACTTCTTTT 0.507 HNSCC(33;0.089) 30 168 --- --- --- --- PASS CNBD1 168975 broad.mit.edu 37 8 87917320 87917320 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:87917320G>A uc003ydy.2 + 3 218 c.170G>A c.(169-171)AGC>AAC p.S57N NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 57 ovary(3) 3 CGGAGTATGAGCAATATCTTA 0.333 5 17 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100821701 100821701 + Missense_Mutation SNP G T T rs145899918 TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:100821701G>T uc003yiv.2 + 44 8226 c.8115G>T c.(8113-8115)AGG>AGT p.R2705S VPS13B_uc003yiw.2_Missense_Mutation_p.R2680S NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2705 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTCAGTACAGGGGTCGAACTG 0.438 48 99 --- --- --- --- PASS KLF10 7071 broad.mit.edu 37 8 103664217 103664217 + Missense_Mutation SNP A C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:103664217A>C uc011lhk.1 - 3 497 c.343T>G c.(343-345)TCT>GCT p.S115A KLF10_uc011lhj.1_Missense_Mutation_p.S104A NM_005655 NP_005646 Q13118 KLF10_HUMAN Kruppel-like factor 10 isoform a 115 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) TGTACAGTAGATGGCGCTGGT 0.463 OREG0018913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 85 --- --- --- --- PASS EIF3H 8667 broad.mit.edu 37 8 117669519 117669519 + Silent SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:117669519T>C uc003yoa.2 - 4 518 c.492A>G c.(490-492)CTA>CTG p.L164L EIF3H_uc003yob.2_Silent_p.L178L NM_003756 NP_003747 O15372 EIF3H_HUMAN eukaryotic translation initiation factor 3, 164 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(3) 3 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) TGTATGCCTTTAGTGAGAGAG 0.413 42 77 --- --- --- --- PASS TG 7038 broad.mit.edu 37 8 133925455 133925455 + Silent SNP G C C rs141350511 TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:133925455G>C uc003ytw.2 + 20 4364 c.4323G>C c.(4321-4323)TCG>TCC p.S1441S TG_uc010mdw.2_Silent_p.S200S NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1441 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) TTGGGTGCTCGGAAGGATTCT 0.567 14 98 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139149433 139149433 + Silent SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:139149433G>T uc003yuy.2 - 19 4143 c.3972C>A c.(3970-3972)GCC>GCA p.A1324A FAM135B_uc003yux.2_Silent_p.A1225A|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1324 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) TTTCAATCCTGGCTGAATGAA 0.388 HNSCC(54;0.14) 28 81 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139190828 139190828 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:139190828G>T uc003yuy.2 - 10 1150 c.979C>A c.(979-981)CTG>ATG p.L327M FAM135B_uc003yux.2_Missense_Mutation_p.L228M|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 327 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) TGGGAGTGCAGAGTGACTGTG 0.517 HNSCC(54;0.14) 29 78 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139603721 139603721 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:139603721G>T uc003yvd.2 - 64 5086 c.4639C>A c.(4639-4641)CCA>ACA p.P1547T COL22A1_uc011ljo.1_Missense_Mutation_p.P827T NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1547 Pro-rich.|Gly-rich.|Collagen-like 15. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGTGCACCTGGGTCACCTTTG 0.602 HNSCC(7;0.00092) 6 32 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139825186 139825186 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:139825186C>T uc003yvd.2 - 8 1769 c.1322G>A c.(1321-1323)GGT>GAT p.G441D NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 441 cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCTCACCGGACCCGAGGGGAT 0.537 HNSCC(7;0.00092) 20 79 --- --- --- --- PASS FAM83H 286077 broad.mit.edu 37 8 144809619 144809619 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:144809619C>A uc003yzk.2 - 5 2081 c.2012G>T c.(2011-2013)CGC>CTC p.R671L FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 671 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGGGTTCAGGCGCGAGCGGAA 0.741 3 8 --- --- --- --- PASS NFKBIL2 4796 broad.mit.edu 37 8 145659530 145659530 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr8:145659530C>A uc011llg.1 - 21 3233 c.3218G>T c.(3217-3219)CGG>CTG p.R1073L uc011llh.1_5'Flank NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 1073 LRR 1. cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GCGCAGCTCCCGGAGTGCTGT 0.697 11 17 --- --- --- --- PASS MLLT3 4300 broad.mit.edu 37 9 20413751 20413751 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr9:20413751C>G uc003zoe.2 - 5 1352 c.1093G>C c.(1093-1095)GAT>CAT p.D365H MLLT3_uc011lne.1_Missense_Mutation_p.D333H|MLLT3_uc011lnf.1_Missense_Mutation_p.D362H|MLLT3_uc003zof.2_Missense_Mutation_p.D166H NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 365 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TCCTCCACATCTGAATCATTG 0.358 T MLL ALL 49 59 --- --- --- --- PASS LINGO2 158038 broad.mit.edu 37 9 27949218 27949218 + Silent SNP G T T rs150860330 TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr9:27949218G>T uc003zqu.1 - 2 1646 c.1452C>A c.(1450-1452)ATC>ATA p.I484I LINGO2_uc010mjf.1_Silent_p.I484I|LINGO2_uc003zqv.1_Silent_p.I484I NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 484 Ig-like C2-type.|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) CATTGCTAGCGATGCAAACAT 0.493 27 36 --- --- --- --- PASS PRKACG 5568 broad.mit.edu 37 9 71628641 71628641 + Missense_Mutation SNP T C C rs145926335 TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr9:71628641T>C uc004agy.2 - 1 399 c.368A>G c.(367-369)TAC>TGC p.Y123C NM_002732 NP_002723 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, 123 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity ovary(1)|pancreas(1)|skin(1) 3 ACCCGGCACGTACTCCATCAC 0.592 28 72 --- --- --- --- PASS GDA 9615 broad.mit.edu 37 9 74842916 74842916 + Nonsense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr9:74842916C>T uc004aiq.2 + 9 1063 c.880C>T c.(880-882)CGA>TGA p.R294* GDA_uc011lse.1_Nonsense_Mutation_p.R220*|GDA_uc011lsf.1_Nonsense_Mutation_p.R220*|GDA_uc004air.2_Nonsense_Mutation_p.R294*|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Nonsense_Mutation_p.R216*|GDA_uc004ait.1_Nonsense_Mutation_p.R220* NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 294 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) ATTCCATGAACGAGGAGCATC 0.458 22 36 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90503242 90503242 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr9:90503242C>A uc004app.3 + 4 3875 c.3840C>A c.(3838-3840)GGC>GGA p.G1280G NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 1280 integral to membrane ovary(3) 3 GGAAAGGAGGCACACGGTGGG 0.567 47 88 --- --- --- --- PASS NFIL3 4783 broad.mit.edu 37 9 94172985 94172985 + Missense_Mutation SNP T A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr9:94172985T>A uc004arh.2 - 2 427 c.32A>T c.(31-33)AAG>ATG p.K11M NM_005384 NP_005375 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 11 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 CGCCTGCTCCTTTTTGACGGT 0.438 67 133 --- --- --- --- PASS RNF20 56254 broad.mit.edu 37 9 104297792 104297792 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr9:104297792G>A uc004bbn.2 + 2 177 c.87G>A c.(85-87)GGG>GGA p.G29G NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 29 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1) 8 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) AAGATTCAGGGACCACAGTGG 0.463 27 27 --- --- --- --- PASS PRDM12 59335 broad.mit.edu 37 9 133542181 133542181 + Nonsense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr9:133542181G>A uc004bzt.1 + 2 470 c.410G>A c.(409-411)TGG>TAG p.W137* NM_021619 NP_067632 Q9H4Q4 PRD12_HUMAN PR domain containing 12 137 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) AACCTCATGTGGGAGGTACGC 0.706 41 55 --- --- --- --- PASS ABL1 25 broad.mit.edu 37 9 133750280 133750280 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr9:133750280G>T uc004bzw.2 + 7 1114 c.1111G>T c.(1111-1113)GTA>TTA p.V371L ABL1_uc004bzv.2_Missense_Mutation_p.V390L NM_005157 NP_005148 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase 371 Protein kinase. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding p.V371A(1) haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) AAACTGCCTGGTAGGGGAGAA 0.522 T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL 52 96 --- --- --- --- PASS TTF1 7270 broad.mit.edu 37 9 135251316 135251316 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr9:135251316G>A uc004cbl.2 - 11 2756 c.2704C>T c.(2704-2706)CGG>TGG p.R902W TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.R387W NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 902 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) atgatccaccggccttggcct 0.085 12 13 --- --- --- --- PASS TSC1 7248 broad.mit.edu 37 9 135772037 135772037 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr9:135772037C>T uc004cca.2 - 23 3314 c.3080G>A c.(3079-3081)CGG>CAG p.R1027Q TSC1_uc004ccb.3_Missense_Mutation_p.R1026Q|TSC1_uc011mcq.1_Missense_Mutation_p.R976Q|TSC1_uc011mcr.1_Missense_Mutation_p.G220R NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 1027 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) ACTACTGCCCCGGGCGCTGCT 0.542 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 17 35 --- --- --- --- PASS SURF4 6836 broad.mit.edu 37 9 136234199 136234199 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr9:136234199G>A uc004cdj.2 - 2 301 c.171C>T c.(169-171)ACC>ACT p.T57T SURF4_uc011mda.1_Silent_p.T48T|SURF4_uc010nal.2_Silent_p.T89T|SURF4_uc011mdb.1_Silent_p.T14T|SURF4_uc011mdc.1_Silent_p.T14T|SURF4_uc011mdd.1_Silent_p.T57T NM_033161 NP_149351 O15260 SURF4_HUMAN surfeit 4 57 endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05) AGTTCCAGGTGGTGTCGATGT 0.617 14 47 --- --- --- --- PASS GTPBP4 23560 broad.mit.edu 37 10 1061748 1061748 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr10:1061748G>A uc001ift.2 + 16 1735 c.1664G>A c.(1663-1665)CGG>CAG p.R555Q GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.R439Q|GTPBP4_uc010qae.1_Missense_Mutation_p.R508Q NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN G protein-binding protein CRFG 555 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1)|skin(1) 2 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) AAAAGAAAGCGGGAAGACTCT 0.542 36 154 --- --- --- --- PASS WAC 51322 broad.mit.edu 37 10 28900818 28900818 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr10:28900818G>A uc001iuf.2 + 10 1489 c.1404G>A c.(1402-1404)TTG>TTA p.L468L WAC_uc001iud.2_Silent_p.L423L|WAC_uc001iue.2_Silent_p.L158L|WAC_uc001iug.2_Silent_p.L365L|WAC_uc001iuh.2_Silent_p.L420L NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 468 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 TCAAACCTTTGATCAGTACTC 0.398 80 116 --- --- --- --- PASS ZEB1 6935 broad.mit.edu 37 10 31803581 31803581 + Silent SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr10:31803581T>C uc001ivs.3 + 6 798 c.735T>C c.(733-735)TGT>TGC p.C245C ZEB1_uc001ivr.3_Silent_p.C27C|ZEB1_uc010qee.1_Silent_p.C27C|ZEB1_uc010qef.1_Silent_p.C27C|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Silent_p.C171C|ZEB1_uc010qeg.1_Silent_p.C104C|ZEB1_uc009xlk.1_Silent_p.C27C|ZEB1_uc001ivt.3_Silent_p.C27C|ZEB1_uc001ivu.3_Silent_p.C246C|ZEB1_uc001ivv.3_Silent_p.C225C|ZEB1_uc010qeh.1_Silent_p.C178C|ZEB1_uc009xll.2_RNA|ZEB1_uc009xlm.1_RNA|ZEB1_uc009xln.1_RNA|ZEB1_uc009xlo.1_Silent_p.C228C|ZEB1_uc009xlp.2_Silent_p.C229C NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 245 C2H2-type 3. cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) GCACTGAGTGTGGAAAAGCTT 0.328 41 62 --- --- --- --- PASS PRKG1 5592 broad.mit.edu 37 10 53814260 53814260 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr10:53814260G>T uc001jjm.2 + 6 928 c.734G>T c.(733-735)GGA>GTA p.G245V PRKG1_uc001jjn.2_Missense_Mutation_p.G260V|PRKG1_uc001jjo.2_Missense_Mutation_p.G260V|PRKG1_uc009xow.1_5'UTR NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 245 cGMP 2. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TATGAAAATGGAGAATATATT 0.413 18 51 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55955514 55955514 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr10:55955514C>T uc001jju.1 - 11 1629 c.1234G>A c.(1234-1236)GCA>ACA p.A412T PCDH15_uc010qhq.1_Missense_Mutation_p.A417T|PCDH15_uc010qhr.1_Missense_Mutation_p.A412T|PCDH15_uc010qhs.1_Missense_Mutation_p.A417T|PCDH15_uc010qht.1_Missense_Mutation_p.A412T|PCDH15_uc010qhu.1_Missense_Mutation_p.A412T|PCDH15_uc001jjv.1_Missense_Mutation_p.A390T|PCDH15_uc010qhv.1_Missense_Mutation_p.A412T|PCDH15_uc010qhw.1_Missense_Mutation_p.A375T|PCDH15_uc010qhx.1_Missense_Mutation_p.A412T|PCDH15_uc010qhy.1_Missense_Mutation_p.A417T|PCDH15_uc010qhz.1_Missense_Mutation_p.A412T|PCDH15_uc010qia.1_Missense_Mutation_p.A390T|PCDH15_uc010qib.1_Missense_Mutation_p.A390T|PCDH15_uc001jjw.2_Missense_Mutation_p.A412T NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 412 Cadherin 4.|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) GAAATGGTTGCTCCCACTGGG 0.388 HNSCC(58;0.16) 25 94 --- --- --- --- PASS FAM13C 220965 broad.mit.edu 37 10 61022302 61022302 + Silent SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr10:61022302C>G uc001jkn.2 - 11 1262 c.1128G>C c.(1126-1128)CCG>CCC p.P376P FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Silent_p.P293P|FAM13C_uc010qie.1_Silent_p.P293P|FAM13C_uc010qif.1_Silent_p.P398P|FAM13C_uc001jkp.2_Silent_p.P293P NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 376 ovary(2) 2 CCGCAGCTTCCGGTTTCCCAT 0.547 23 62 --- --- --- --- PASS PIK3AP1 118788 broad.mit.edu 37 10 98369517 98369517 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr10:98369517C>T uc001kmq.2 - 14 2250 c.2122G>A c.(2122-2124)GAG>AAG p.E708K PIK3AP1_uc001kmo.2_Missense_Mutation_p.E307K|PIK3AP1_uc001kmp.2_Missense_Mutation_p.E530K NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 708 cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) CGTCTCAGCTCCGTCCTAGGG 0.587 77 196 --- --- --- --- PASS PPRC1 23082 broad.mit.edu 37 10 103898705 103898705 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr10:103898705G>A uc001kum.2 + 4 598 c.559G>A c.(559-561)GGG>AGG p.G187R PPRC1_uc001kun.2_Missense_Mutation_p.G67R|PPRC1_uc010qqj.1_Missense_Mutation_p.G187R|PPRC1_uc009xxa.2_5'Flank NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TGACCCACTGGGGCCCAGTAC 0.572 23 45 --- --- --- --- PASS NOLC1 9221 broad.mit.edu 37 10 103921618 103921618 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr10:103921618G>T uc001kuo.2 + 12 2112 c.1877G>T c.(1876-1878)CGA>CTA p.R626L NOLC1_uc001kup.2_Missense_Mutation_p.R636L|NOLC1_uc001kuq.2_Missense_Mutation_p.R627L|NOLC1_uc009xxb.1_Missense_Mutation_p.R345L|NOLC1_uc001kur.2_Missense_Mutation_p.R345L NM_004741 NP_004732 Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 626 mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) TCCCCATTCCGAAGGGTCAGG 0.483 3 54 --- --- --- --- PASS ZDHHC6 64429 broad.mit.edu 37 10 114202056 114202056 + Missense_Mutation SNP T A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr10:114202056T>A uc001kzv.2 - 4 837 c.413A>T c.(412-414)TAC>TTC p.Y138F ZDHHC6_uc001kzw.2_Missense_Mutation_p.Y134F|ZDHHC6_uc009xya.1_Missense_Mutation_p.Y138F NM_022494 NP_071939 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 138 DHHC-type. integral to membrane acyltransferase activity|zinc ion binding 0 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) ATGATTTTGGTAACCACAACA 0.383 6 28 --- --- --- --- PASS NRAP 4892 broad.mit.edu 37 10 115388679 115388679 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr10:115388679G>C uc001laj.2 - 20 2306 c.2142C>G c.(2140-2142)AGC>AGG p.S714R NRAP_uc009xyb.2_Missense_Mutation_p.S25R|NRAP_uc001lak.2_Missense_Mutation_p.S679R|NRAP_uc001lal.3_Missense_Mutation_p.S714R NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 714 Nebulin 17. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) AGGTTACCTCGCTGACCAGCT 0.552 22 56 --- --- --- --- PASS HSPA12A 259217 broad.mit.edu 37 10 118451897 118451897 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr10:118451897G>A uc001lct.2 - 6 733 c.628C>T c.(628-630)CCG>TCG p.P210S HSPA12A_uc001lcu.2_Missense_Mutation_p.P127S NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 210 ATP binding ovary(1) 1 all cancers(201;0.0158) TGCTTGGCCGGCTGCTTCCAG 0.582 5 252 --- --- --- --- PASS SEC23IP 11196 broad.mit.edu 37 10 121658165 121658165 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr10:121658165G>A uc001leu.1 + 2 462 c.390G>A c.(388-390)TCG>TCA p.S130S SEC23IP_uc010qtc.1_Intron NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 130 Interaction with SEC23A. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) AAGATGTCTCGAATGCATTTT 0.483 40 177 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1273591 1273591 + Missense_Mutation SNP A T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:1273591A>T uc009ycr.1 + 53 15974 c.15848A>T c.(15847-15849)AAG>ATG p.K5283M MUC5B_uc001ltb.2_Missense_Mutation_p.K4964M NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4961 cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ATCTACAATAAGACCGACCGA 0.557 21 69 --- --- --- --- PASS CTSD 1509 broad.mit.edu 37 11 1774798 1774798 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:1774798G>A uc001luc.1 - 9 1307 c.1174C>T c.(1174-1176)CGC>TGC p.R392C uc001lub.1_5'Flank|CTSD_uc009yda.1_RNA NM_001909 NP_001900 P07339 CATD_HUMAN cathepsin D preproprotein 392 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity 0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTGTAGTAGCGGCCGATGAAG 0.647 9 53 --- --- --- --- PASS OR52R1 119695 broad.mit.edu 37 11 4825550 4825550 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:4825550G>T uc010qym.1 - 1 298 c.298C>A c.(298-300)CCA>ACA p.P100T NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, 21 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TCCAGGCCTGGGATTCCAAGC 0.493 8 49 --- --- --- --- PASS OR51A7 119687 broad.mit.edu 37 11 4929170 4929170 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:4929170G>A uc010qyq.1 + 1 571 c.571G>A c.(571-573)GAC>AAC p.D191N NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCCTGCTCTGACAACAAGAC 0.398 26 128 --- --- --- --- PASS OR52J3 119679 broad.mit.edu 37 11 5068359 5068359 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:5068359C>A uc010qyv.1 + 1 604 c.604C>A c.(604-606)CTT>ATT p.L202I NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TATCTATGGGCTTTTTGTAGT 0.443 52 122 --- --- --- --- PASS HBD 3045 broad.mit.edu 37 11 5255338 5255338 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:5255338C>A uc001maf.1 - 2 393 c.198G>T c.(196-198)AAG>AAT p.K66N NM_000519 NP_000510 P02042 HBD_HUMAN delta globin 66 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTAGCACCTTCTTGCCATGAG 0.542 44 91 --- --- --- --- PASS HBE1 3046 broad.mit.edu 37 11 5289800 5289800 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:5289800G>T uc001mal.1 - 3 596 c.343C>A c.(343-345)CTG>ATG p.L115M HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.L115M NM_005330 NP_005321 P02100 HBE_HUMAN epsilon globin 115 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) TGAGTAGCCAGAATAATCACC 0.483 40 186 --- --- --- --- PASS HBE1 3046 broad.mit.edu 37 11 5289801 5289801 + Silent SNP A G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:5289801A>G uc001mal.1 - 3 595 c.342T>C c.(340-342)ATT>ATC p.I114I HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.I114I NM_005330 NP_005321 P02100 HBE_HUMAN epsilon globin 114 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) GAGTAGCCAGAATAATCACCA 0.478 41 187 --- --- --- --- PASS NLRP14 338323 broad.mit.edu 37 11 7059848 7059848 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:7059848C>T uc001mfb.1 + 2 354 c.31C>T c.(31-33)CCT>TCT p.P11S NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 11 DAPIN. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TTCTTTCTTTCCTGATTTTGG 0.398 40 125 --- --- --- --- PASS PLEKHA7 144100 broad.mit.edu 37 11 16812380 16812380 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:16812380C>A uc001mmo.2 - 21 3032 c.3017G>T c.(3016-3018)GGC>GTC p.G1006V PLEKHA7_uc010rcu.1_Missense_Mutation_p.G1007V|PLEKHA7_uc001mmm.2_Missense_Mutation_p.G109V|PLEKHA7_uc010rcv.1_Missense_Mutation_p.G581V|PLEKHA7_uc001mmn.2_Missense_Mutation_p.G715V NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 1006 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 GCTCTCAGGGCCCACAAGTCC 0.642 3 13 --- --- --- --- PASS KCNA4 3739 broad.mit.edu 37 11 30033008 30033008 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:30033008G>A uc001msk.2 - 2 2370 c.1218C>T c.(1216-1218)ATC>ATT p.I406I NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 406 Helical; Name=Segment S3; (Potential). voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CAATGTCAATGATGTTCATGA 0.488 35 66 --- --- --- --- PASS C11orf74 119710 broad.mit.edu 37 11 36680701 36680701 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:36680701G>A uc001mwy.1 + 6 704 c.631G>A c.(631-633)GAC>AAC p.D211N C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Missense_Mutation_p.D137N|C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Missense_Mutation_p.D137N|C11orf74_uc010rfe.1_Intron NM_138787 NP_620142 Q86VG3 CK074_HUMAN hypothetical protein LOC119710 211 0 all_lung(20;0.226) all_hematologic(20;0.0118) GAAGAGAAAGGACACCAGCCC 0.383 30 52 --- --- --- --- PASS HSD17B12 51144 broad.mit.edu 37 11 43772487 43772487 + Nonsense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:43772487G>T uc001mxq.3 + 2 422 c.187G>T c.(187-189)GGA>TGA p.G63* HSD17B12_uc001mxp.2_RNA NM_016142 NP_057226 Q53GQ0 DHB12_HUMAN hydroxysteroid (17-beta) dehydrogenase 12 63 NADP (By similarity). long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity 0 TGATGGAATTGGAAAATCATA 0.313 16 81 --- --- --- --- PASS ACCSL 390110 broad.mit.edu 37 11 44076801 44076801 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:44076801G>C uc001mxw.1 + 9 1155 c.1099G>C c.(1099-1101)GAT>CAT p.D367H ACCSL_uc009ykr.2_Missense_Mutation_p.D186H NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 367 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 GTCTGTGTTTGATGAATCCAT 0.418 8 75 --- --- --- --- PASS SYT13 57586 broad.mit.edu 37 11 45265772 45265772 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:45265772G>A uc001myq.2 - 6 1238 c.1112C>T c.(1111-1113)GCC>GTC p.A371V SYT13_uc009yku.1_Missense_Mutation_p.A227V NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 371 C2 2.|Cytoplasmic (Potential). transport vesicle ovary(1) 1 CACACTGGAGGCCTGCAGCAG 0.597 20 34 --- --- --- --- PASS PHF21A 51317 broad.mit.edu 37 11 46001392 46001392 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:46001392C>A uc001ncc.3 - 6 903 c.279G>T c.(277-279)CAG>CAT p.Q93H PHF21A_uc001ncb.3_Missense_Mutation_p.Q93H|PHF21A_uc009ykx.2_Missense_Mutation_p.Q93H|PHF21A_uc001nce.2_Missense_Mutation_p.Q93H NM_001101802 NP_001095272 Q96BD5 PF21A_HUMAN BRAF35/HDAC2 complex isoform a 93 Gln-rich. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 gttgtagttgctgtagtggtt 0.259 12 41 --- --- --- --- PASS CHRM4 1132 broad.mit.edu 37 11 46408056 46408056 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:46408056G>A uc001nct.1 - 1 52 c.52C>T c.(52-54)CTG>TTG p.L18L NM_000741 NP_000732 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 18 Extracellular (By similarity). cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity 0 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) GACGTGACCAGGCGCACGGAC 0.582 51 101 --- --- --- --- PASS OR4C12 283093 broad.mit.edu 37 11 50003423 50003423 + Nonsense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:50003423G>T uc010ria.1 - 1 615 c.615C>A c.(613-615)TGC>TGA p.C205* NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 AGTTTAATAAGCAGATAAACC 0.413 28 73 --- --- --- --- PASS OR4A5 81318 broad.mit.edu 37 11 51411541 51411541 + Silent SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:51411541C>G uc001nhi.1 - 1 855 c.855G>C c.(853-855)ACG>ACC p.T285T NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 285 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) AATTTCTCAACGTATATATTA 0.328 25 40 --- --- --- --- PASS OR4A16 81327 broad.mit.edu 37 11 55111131 55111131 + Missense_Mutation SNP T A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:55111131T>A uc010rie.1 + 1 455 c.455T>A c.(454-456)GTG>GAG p.V152E NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 GGAGGTTTTGTGCACTCTGTG 0.458 45 91 --- --- --- --- PASS OR4C11 219429 broad.mit.edu 37 11 55371078 55371078 + Missense_Mutation SNP G T T rs140582621 byFrequency TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:55371078G>T uc010rii.1 - 1 772 c.772C>A c.(772-774)CGC>AGC p.R258S NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 258 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTCGGGGGGCGTGTATATATG 0.443 18 103 --- --- --- --- PASS OR4P4 81300 broad.mit.edu 37 11 55406052 55406052 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:55406052C>A uc010rij.1 + 1 219 c.219C>A c.(217-219)TCC>TCA p.S73S NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GCTACACATCCACAGTGACCC 0.403 39 143 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55432749 55432749 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:55432749C>A uc001nht.3 + 3 372 c.107C>A c.(106-108)ACA>AAA p.T36K OR4C6_uc010rik.1_Missense_Mutation_p.T36K NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 36 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TATGTAGCCACAGTGCTGGAA 0.383 96 166 --- --- --- --- PASS OR5F1 338674 broad.mit.edu 37 11 55761812 55761812 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:55761812C>A uc010riv.1 - 1 290 c.290G>T c.(289-291)TGC>TTC p.C97F NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) CTGTAGGAAGCAGCCAGCAAA 0.473 24 58 --- --- --- --- PASS CTNND1 1500 broad.mit.edu 37 11 57571193 57571193 + Silent SNP T G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:57571193T>G uc001nmc.3 + 8 2092 c.1521T>G c.(1519-1521)GGT>GGG p.G507G CTNND1_uc001nlh.1_Silent_p.G507G|CTNND1_uc001nlu.3_Silent_p.G406G|CTNND1_uc001nlt.3_Silent_p.G406G|CTNND1_uc001nls.3_Silent_p.G406G|CTNND1_uc001nlw.3_Silent_p.G406G|CTNND1_uc001nmf.3_Silent_p.G507G|CTNND1_uc001nmd.3_Silent_p.G453G|CTNND1_uc001nlk.3_Silent_p.G453G|CTNND1_uc001nme.3_Silent_p.G507G|CTNND1_uc001nll.3_Silent_p.G453G|CTNND1_uc001nmg.3_Silent_p.G453G|CTNND1_uc001nlj.3_Silent_p.G453G|CTNND1_uc001nlr.3_Silent_p.G453G|CTNND1_uc001nlp.3_Silent_p.G453G|CTNND1_uc001nlx.3_Silent_p.G184G|CTNND1_uc001nlz.3_Silent_p.G184G|CTNND1_uc009ymn.2_Silent_p.G184G|CTNND1_uc001nlm.3_Silent_p.G507G|CTNND1_uc001nly.3_Silent_p.G184G|CTNND1_uc001nmb.3_Silent_p.G184G|CTNND1_uc001nma.3_Silent_p.G184G|CTNND1_uc001nmi.3_Silent_p.G406G|CTNND1_uc001nmh.3_Silent_p.G507G|CTNND1_uc001nlq.3_Silent_p.G406G|CTNND1_uc001nln.3_Silent_p.G507G|CTNND1_uc001nli.3_Silent_p.G507G|CTNND1_uc001nlo.3_Silent_p.G406G|CTNND1_uc001nlv.3_Silent_p.G406G NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 507 ARM 4. adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) CTCATTCTGGTTGGGAGCGGG 0.488 9 29 --- --- --- --- PASS VWCE 220001 broad.mit.edu 37 11 61048362 61048362 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:61048362C>A uc001nra.2 - 8 1412 c.1133G>T c.(1132-1134)CGA>CTA p.R378L VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 378 extracellular region calcium ion binding ovary(1) 1 TGCTGCCAGTCGGGGGGACTC 0.667 4 10 --- --- --- --- PASS SLC22A10 387775 broad.mit.edu 37 11 63065100 63065100 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:63065100G>T uc009yor.2 + 4 939 c.731G>T c.(730-732)GGA>GTA p.G244V SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Intron NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 244 Helical; (Potential). integral to membrane transmembrane transporter activity ovary(2) 2 CTTAGTATTGGACAGATAATC 0.453 36 97 --- --- --- --- PASS CATSPER1 117144 broad.mit.edu 37 11 65786374 65786374 + Splice_Site SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:65786374C>A uc001ogt.2 - 10 2264 c.2126_splice c.e10-1 p.E709_splice NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN sperm-associated cation channel 1 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding ovary(2) 2 TCTTTGGGCTCTGGATGTAGA 0.537 17 38 --- --- --- --- PASS TMEM151A 256472 broad.mit.edu 37 11 66062539 66062539 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:66062539C>A uc001ohl.2 + 2 934 c.822C>A c.(820-822)GCC>GCA p.A274A NM_153266 NP_694998 Q8N4L1 T151A_HUMAN transmembrane protein 151A 274 integral to membrane central_nervous_system(1) 1 TGGTCTTCGCCGACCCCCGCA 0.697 10 21 --- --- --- --- PASS GRM5 2915 broad.mit.edu 37 11 88780992 88780992 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:88780992G>A uc001pcq.2 - 1 249 c.49C>T c.(49-51)CGT>TGT p.R17C GRM5_uc009yvm.2_Missense_Mutation_p.R17C|GRM5_uc009yvn.1_Missense_Mutation_p.R17C NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 17 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GCACTCCCACGGACATCTTCT 0.473 18 67 --- --- --- --- PASS GRM5 2915 broad.mit.edu 37 11 88780993 88780993 + Silent SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:88780993G>T uc001pcq.2 - 1 248 c.48C>A c.(46-48)GTC>GTA p.V16V GRM5_uc009yvm.2_Silent_p.V16V|GRM5_uc009yvn.1_Silent_p.V16V NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 16 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CACTCCCACGGACATCTTCTT 0.473 18 66 --- --- --- --- PASS ANKK1 255239 broad.mit.edu 37 11 113266892 113266892 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:113266892C>T uc001pny.2 + 5 880 c.786C>T c.(784-786)GAC>GAT p.D262D NM_178510 NP_848605 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 262 Protein kinase. ATP binding|protein serine/threonine kinase activity lung(5)|stomach(1)|ovary(1)|breast(1) 8 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) AGATGGTGGACCTGATGAAAC 0.597 20 76 --- --- --- --- PASS FAM55D 54827 broad.mit.edu 37 11 114442168 114442168 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:114442168G>A uc001ppc.2 - 6 1308 c.1127C>T c.(1126-1128)TCT>TTT p.S376F FAM55D_uc001ppd.2_Missense_Mutation_p.S92F NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 376 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) CAATTTTCCAGATTCATGCAG 0.373 69 224 --- --- --- --- PASS ABCG4 64137 broad.mit.edu 37 11 119025563 119025563 + Silent SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:119025563T>C uc001pvs.2 + 6 960 c.624T>C c.(622-624)CGT>CGC p.R208R ABCG4_uc009zar.2_Silent_p.R208R NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 208 Cytoplasmic (Potential).|ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) AGAGGAAGCGTCTGGCCATCG 0.627 43 114 --- --- --- --- PASS OR4D5 219875 broad.mit.edu 37 11 123810676 123810676 + Missense_Mutation SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:123810676T>C uc001pzk.1 + 1 353 c.353T>C c.(352-354)ATG>ACG p.M118T NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CTGACTGTCATGGCGTATGAC 0.517 26 94 --- --- --- --- PASS OR10G9 219870 broad.mit.edu 37 11 123893785 123893785 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:123893785C>A uc010sad.1 + 1 66 c.66C>A c.(64-66)GAC>GAA p.D22E NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 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;0.0399) CAGGGCTGGACGCCCCACTCT 0.587 55 173 --- --- --- --- PASS ROBO4 54538 broad.mit.edu 37 11 124761273 124761273 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:124761273G>A uc001qbg.2 - 12 2010 c.1870C>T c.(1870-1872)CTC>TTC p.L624F ROBO4_uc010sas.1_Missense_Mutation_p.L479F|ROBO4_uc001qbh.2_Missense_Mutation_p.L514F|ROBO4_uc001qbi.2_Missense_Mutation_p.L182F|ROBO4_uc010sat.1_Missense_Mutation_p.L182F NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 624 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) CGGCTGCAGAGGCTGTCTGAG 0.642 15 18 --- --- --- --- PASS ROBO4 54538 broad.mit.edu 37 11 124765457 124765457 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:124765457C>A uc001qbg.2 - 6 1072 c.932G>T c.(931-933)GGA>GTA p.G311V ROBO4_uc010sas.1_Missense_Mutation_p.G166V|ROBO4_uc001qbh.2_Missense_Mutation_p.G201V|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 311 Fibronectin type-III 1. 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) GTGGAGGCCTCCAAGCTCTGC 0.652 28 69 --- --- --- --- PASS IGSF9B 22997 broad.mit.edu 37 11 133790636 133790636 + Missense_Mutation SNP A T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:133790636A>T uc001qgx.3 - 18 3215 c.2984T>A c.(2983-2985)GTC>GAC p.V995D NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 995 Pro-rich.|Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GGACGACATGACGGAGCTCAG 0.652 10 17 --- --- --- --- PASS IGSF9B 22997 broad.mit.edu 37 11 133790808 133790808 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:133790808C>T uc001qgx.3 - 18 3043 c.2812G>A c.(2812-2814)GAG>AAG p.E938K NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 938 Pro-rich.|Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCGGGGCCCTCCAGCCCGCGG 0.692 20 24 --- --- --- --- PASS GLB1L3 112937 broad.mit.edu 37 11 134180992 134180992 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr11:134180992C>A uc009zdf.2 + 13 1575 c.1215C>A c.(1213-1215)CCC>CCA p.P405P GLB1L3_uc010scu.1_3'UTR|GLB1L3_uc001qho.3_RNA NM_001080407 NP_001073876 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1 like 3 405 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds pancreas(1) 1 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) AACTTCCTCCCAAGGCTGTGT 0.612 73 239 --- --- --- --- PASS NINJ2 4815 broad.mit.edu 37 12 675285 675285 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr12:675285C>T uc001qil.2 - 2 322 c.231G>A c.(229-231)AAG>AAA p.K77K NINJ2_uc010sdr.1_5'UTR|NINJ2_uc010sds.1_Silent_p.K77K NM_016533 NP_057617 Q9NZG7 NINJ2_HUMAN ninjurin 2 31 Extracellular (Potential). nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane ovary(2) 2 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) CCGCCACGCTCTTCTTGGTGG 0.602 9 41 --- --- --- --- PASS CLEC4C 170482 broad.mit.edu 37 12 7894077 7894077 + Nonsense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr12:7894077G>A uc001qtg.1 - 3 349 c.175C>T c.(175-177)CGA>TGA p.R59* CLEC4C_uc001qth.1_Nonsense_Mutation_p.R59*|CLEC4C_uc001qti.1_Nonsense_Mutation_p.R28* NM_130441 NP_569708 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C isoform 59 Extracellular (Potential). innate immune response integral to membrane sugar binding ovary(2)|skin(1) 3 Kidney(36;0.0915) TGATACTCTCGTAACTTGGAC 0.423 33 106 --- --- --- --- PASS SLC2A14 144195 broad.mit.edu 37 12 7984328 7984328 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr12:7984328C>T uc001qtk.2 - 9 1006 c.213G>A c.(211-213)ACG>ACA p.T71T SLC2A14_uc001qtl.2_Silent_p.T48T|SLC2A14_uc001qtm.2_Silent_p.T48T|SLC2A14_uc010sgg.1_Intron|SLC2A14_uc001qtn.2_Silent_p.T71T|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Silent_p.T86T NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN glucose transporter 14 71 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity ovary(1) 1 Kidney(36;0.0883) TTGCCTTGTCCGTCAAAGTTT 0.428 OREG0021654 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 74 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21028332 21028332 + Silent SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr12:21028332T>C uc001rek.2 + 8 1017 c.891T>C c.(889-891)CAT>CAC p.H297H SLCO1B3_uc001rel.2_Silent_p.H297H|SLCO1B3_uc010sil.1_Silent_p.H297H|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Silent_p.H122H NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 297 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TATCATTGCATGTGCTGAAAA 0.308 13 73 --- --- --- --- PASS SLCO1B1 10599 broad.mit.edu 37 12 21331510 21331510 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr12:21331510G>T uc001req.3 + 6 586 c.482G>T c.(481-483)GGT>GTT p.G161V NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 161 Extracellular (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) ATCTACATAGGTTGTTTAAAG 0.313 28 145 --- --- --- --- PASS FAR2 55711 broad.mit.edu 37 12 29469880 29469880 + Silent SNP G A A rs142086556 byFrequency TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr12:29469880G>A uc001ris.3 + 9 1209 c.1062G>A c.(1060-1062)GCG>GCA p.A354A FAR2_uc001rit.2_Silent_p.A354A|FAR2_uc009zjm.2_Silent_p.A257A|uc001riu.1_Intron NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 354 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 ACTGGAATGCGGTCAGCCACC 0.493 46 267 --- --- --- --- PASS CAPRIN2 65981 broad.mit.edu 37 12 30867967 30867967 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr12:30867967C>T uc001rji.1 - 15 3327 c.2576G>A c.(2575-2577)CGG>CAG p.R859Q CAPRIN2_uc001rjf.1_Missense_Mutation_p.R655Q|CAPRIN2_uc001rjg.1_Missense_Mutation_p.R526Q|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R809Q|CAPRIN2_uc001rjj.1_Missense_Mutation_p.R525Q|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R858Q|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R803Q|CAPRIN2_uc001rjm.1_3'UTR NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 859 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) AACAGATCCCCGGCTATTGAC 0.438 67 89 --- --- --- --- PASS IGFBP6 3489 broad.mit.edu 37 12 53495851 53495851 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr12:53495851G>T uc001sbu.1 + 4 689 c.623G>T c.(622-624)CGC>CTC p.R208L SOAT2_uc001sbv.2_5'Flank|SOAT2_uc009zms.2_5'Flank NM_002178 NP_002169 P24592 IBP6_HUMAN insulin-like growth factor binding protein 6 208 Thyroglobulin type-1. negative regulation of cell proliferation|regulation of cell growth|signal transduction ovary(1) 1 CAGGGGCAGCGCCGAGGTCCC 0.627 11 90 --- --- --- --- PASS POLR3B 55703 broad.mit.edu 37 12 106903246 106903246 + Silent SNP G A A rs113017214 TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr12:106903246G>A uc001tlp.2 + 28 3543 c.3321G>A c.(3319-3321)CCG>CCA p.P1107P POLR3B_uc001tlq.2_Silent_p.P1049P NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 1107 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 TCCGTATTCCGTATGCCTGCA 0.463 5 150 --- --- --- --- PASS C12orf23 90488 broad.mit.edu 37 12 107364965 107364965 + Silent SNP T A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr12:107364965T>A uc001tmb.2 + 4 521 c.147T>A c.(145-147)GCT>GCA p.A49A C12orf23_uc001tmc.2_Silent_p.A49A|C12orf23_uc001tmd.2_Silent_p.A49A NM_152261 NP_689474 Q8WUH6 CL023_HUMAN hypothetical protein LOC90488 49 Helical; (Potential). integral to membrane 0 CAAAGGGAGCTGTTGGTGCCA 0.498 39 136 --- --- --- --- PASS ATP6V0A2 23545 broad.mit.edu 37 12 124242547 124242547 + Missense_Mutation SNP T A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr12:124242547T>A uc001ufr.2 + 20 2787 c.2539T>A c.(2539-2541)TCA>ACA p.S847T NM_012463 NP_036595 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 847 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) TCTACTTTCATCAAAGTTCAA 0.348 12 73 --- --- --- --- PASS ATP6V0A2 23545 broad.mit.edu 37 12 124242548 124242548 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr12:124242548C>T uc001ufr.2 + 20 2788 c.2540C>T c.(2539-2541)TCA>TTA p.S847L NM_012463 NP_036595 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 847 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) CTACTTTCATCAAAGTTCAAT 0.348 13 73 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124395159 124395159 + Missense_Mutation SNP T A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr12:124395159T>A uc001uft.3 + 58 9745 c.9720T>A c.(9718-9720)TTT>TTA p.F3240L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3240 Stalk (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) TGCTGAAATTTGTTGAAGCTG 0.448 27 88 --- --- --- --- PASS BRI3BP 140707 broad.mit.edu 37 12 125497114 125497114 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr12:125497114G>T uc001uha.1 + 2 391 c.248G>T c.(247-249)GGA>GTA p.G83V NM_080626 NP_542193 Q8WY22 BRI3B_HUMAN BRI3-binding protein 83 integral to membrane|mitochondrial outer membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) TTTGTGCTGGGAGTGGATATG 0.498 36 210 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29599084 29599084 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr13:29599084C>A uc001usl.3 + 1 337 c.279C>A c.(277-279)GGC>GGA p.G93G NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 83 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 AACTTCAGGGCTTTGGGAAAG 0.453 10 22 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32653058 32653058 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr13:32653058C>T uc001utx.2 + 2 654 c.158C>T c.(157-159)CCC>CTC p.P53L FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ACCATGCTACCCATCAATGTG 0.488 207 164 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58208780 58208780 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr13:58208780C>T uc001vhq.1 + 1 2992 c.2100C>T c.(2098-2100)CAC>CAT p.H700H PCDH17_uc010aec.1_Silent_p.H700H NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 700 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GCGAGCAGCACCACTGGGACA 0.617 67 41 --- --- --- --- PASS GPC5 2262 broad.mit.edu 37 13 92380825 92380825 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr13:92380825C>G uc010tif.1 + 4 1426 c.1060C>G c.(1060-1062)CAA>GAA p.Q354E NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 354 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) AACACCCACACAAAGCCCCCG 0.418 65 99 --- --- --- --- PASS KDELC1 79070 broad.mit.edu 37 13 103440247 103440247 + Silent SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr13:103440247T>C uc001vpq.3 - 8 1704 c.1320A>G c.(1318-1320)CAA>CAG p.Q440Q KDELC1_uc001vpr.3_Silent_p.Q221Q NM_024089 NP_076994 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 precursor 440 endoplasmic reticulum lumen ovary(1) 1 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TTGCAAATTCTTGTCCTGCTT 0.363 54 55 --- --- --- --- PASS FAM155A 728215 broad.mit.edu 37 13 108518154 108518154 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr13:108518154C>G uc001vql.2 - 1 1307 c.791G>C c.(790-792)TGC>TCC p.C264S NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 264 integral to membrane binding skin(1) 1 AGCCTCGACGCACTGCCTGCA 0.522 46 53 --- --- --- --- PASS CARKD 55739 broad.mit.edu 37 13 111290756 111290756 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr13:111290756G>T uc001vrb.2 + 10 939 c.925G>T c.(925-927)GCC>TCC p.A309S CARKD_uc010tjj.1_Missense_Mutation_p.A291S|CARKD_uc001vqz.2_RNA|CARKD_uc001vra.2_RNA|CARKD_uc010tjk.1_Missense_Mutation_p.A199S|CARKD_uc010tjl.1_Missense_Mutation_p.A178S|CARKD_uc001vrc.2_Missense_Mutation_p.R354L Q8IW45 CARKD_HUMAN RecName: Full=Carbohydrate kinase domain-containing protein; Flags: Precursor; 309 YjeF C-terminal. skin(1) 1 CGCGTTTGGCGCCTGCTCTCT 0.687 35 30 --- --- --- --- PASS POTEG 404785 broad.mit.edu 37 14 19553647 19553647 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:19553647G>T uc001vuz.1 + 1 283 c.231G>T c.(229-231)AAG>AAT p.K77N POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 77 ovary(1) 1 GGAGCAGCAAGAGCAACGTGG 0.592 56 200 --- --- --- --- PASS OR4N2 390429 broad.mit.edu 37 14 20295661 20295661 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:20295661C>T uc010tkv.1 + 1 54 c.54C>T c.(52-54)ACC>ACT p.T18T NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGGTCTGACCCAGTCTCAAG 0.383 55 237 --- --- --- --- PASS OR4K1 79544 broad.mit.edu 37 14 20404461 20404461 + Silent SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:20404461G>C uc001vwj.1 + 1 636 c.636G>C c.(634-636)CTG>CTC p.L212L NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GCTGTTTCCTGGCTTTAATTA 0.448 19 101 --- --- --- --- PASS CHD8 57680 broad.mit.edu 37 14 21876521 21876521 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:21876521C>A uc001was.1 - 13 1937 c.1843G>T c.(1843-1845)GCC>TCC p.A615S CHD8_uc001war.1_Missense_Mutation_p.A511S|CHD8_uc001wav.1_Missense_Mutation_p.A57S NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 894 Helicase ATP-binding. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TGCCTGCTGGCCAGACTGCCA 0.448 31 84 --- --- --- --- PASS CHD8 57680 broad.mit.edu 37 14 21876522 21876522 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:21876522C>A uc001was.1 - 13 1936 c.1842G>T c.(1840-1842)CTG>CTT p.L614L CHD8_uc001war.1_Silent_p.L510L|CHD8_uc001wav.1_Silent_p.L56L NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 893 Helicase ATP-binding. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GCCTGCTGGCCAGACTGCCAT 0.448 32 85 --- --- --- --- PASS CHD8 57680 broad.mit.edu 37 14 21876595 21876595 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:21876595G>A uc001was.1 - 13 1863 c.1769C>T c.(1768-1770)TCC>TTC p.S590F CHD8_uc001war.1_Missense_Mutation_p.S486F|CHD8_uc001wav.1_Missense_Mutation_p.S32F NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 869 Helicase ATP-binding. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AGTAATTGTGGACAGTGGGGC 0.448 35 113 --- --- --- --- PASS MYH7 4625 broad.mit.edu 37 14 23900812 23900812 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:23900812G>C uc001wjx.2 - 8 820 c.714C>G c.(712-714)AAC>AAG p.N238K NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 238 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) AGGAGTTGTCGTTCCGGACGG 0.597 56 189 --- --- --- --- PASS NID2 22795 broad.mit.edu 37 14 52478332 52478332 + Silent SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:52478332G>T uc001wzo.2 - 17 3724 c.3490C>A c.(3490-3492)CGG>AGG p.R1164R NID2_uc010tqs.1_Silent_p.R1116R|NID2_uc010tqt.1_Silent_p.R1164R NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 1164 LDL-receptor class B 1. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) CTGATTGTCCGTCCAGCAACA 0.488 51 131 --- --- --- --- PASS SPTB 6710 broad.mit.edu 37 14 65237682 65237682 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:65237682G>C uc001xht.2 - 26 5773 c.5719C>G c.(5719-5721)CGC>GGC p.R1907G SPTB_uc001xhr.2_Missense_Mutation_p.R1907G|SPTB_uc001xhs.2_Missense_Mutation_p.R1907G|SPTB_uc001xhu.2_Missense_Mutation_p.R1907G|SPTB_uc010aqi.2_Missense_Mutation_p.R568G NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1907 Spectrin 16. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTGAAGAAGCGGAATTTATCC 0.637 12 47 --- --- --- --- PASS GALNTL1 57452 broad.mit.edu 37 14 69787472 69787472 + Silent SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:69787472G>T uc010aqu.1 + 2 315 c.222G>T c.(220-222)CTG>CTT p.L74L GALNTL1_uc001xla.1_Silent_p.L74L|GALNTL1_uc001xlb.1_Silent_p.L74L NM_020692 NP_065743 Q8N428 GLTL1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 74 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(1)|central_nervous_system(1) 2 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) AGGCCTACCTGTCGGCCAAGC 0.597 24 91 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71572105 71572105 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:71572105G>A uc001xmo.2 + 33 6695 c.6249G>A c.(6247-6249)CAG>CAA p.Q2083Q PCNX_uc010are.1_Silent_p.Q1972Q|PCNX_uc010arf.1_Silent_p.Q871Q|PCNX_uc001xmp.2_Silent_p.Q167Q NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 2083 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) ATCCTGGGCAGGGATCAGGAA 0.478 18 54 --- --- --- --- PASS FLRT2 23768 broad.mit.edu 37 14 86088821 86088821 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:86088821C>T uc001xvr.2 + 2 1730 c.963C>T c.(961-963)GTC>GTT p.V321V FLRT2_uc010atd.2_Silent_p.V321V NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 321 Extracellular (Potential).|LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) TTAAATGGGTCACAGAATGGC 0.478 56 216 --- --- --- --- PASS FLRT2 23768 broad.mit.edu 37 14 86088895 86088895 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:86088895G>T uc001xvr.2 + 2 1804 c.1037G>T c.(1036-1038)CGG>CTG p.R346L FLRT2_uc010atd.2_Missense_Mutation_p.R346L NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 346 Extracellular (Potential).|LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) GAACAAGTCCGGGGGATGGCC 0.517 54 172 --- --- --- --- PASS FLRT2 23768 broad.mit.edu 37 14 86089605 86089605 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:86089605C>T uc001xvr.2 + 2 2514 c.1747C>T c.(1747-1749)CGG>TGG p.R583W FLRT2_uc010atd.2_Missense_Mutation_p.R583W NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 583 Cytoplasmic (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) CAACCGGGGCCGGCGGAAAGA 0.502 46 133 --- --- --- --- PASS FBLN5 10516 broad.mit.edu 37 14 92347671 92347671 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:92347671G>C uc001xzx.3 - 9 1427 c.954C>G c.(952-954)ATC>ATG p.I318M FBLN5_uc010aud.2_Missense_Mutation_p.I323M|FBLN5_uc010aue.2_Missense_Mutation_p.I359M NM_006329 NP_006320 Q9UBX5 FBLN5_HUMAN fibulin 5 precursor 318 EGF-like 6; calcium-binding (Potential). cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 all_cancers(154;0.0722) CCTCACAGCGGATGGGGTCAA 0.527 18 57 --- --- --- --- PASS GOLGA5 9950 broad.mit.edu 37 14 93301991 93301991 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:93301991G>T uc001yaz.1 + 11 2215 c.2033G>T c.(2032-2034)AGT>ATT p.S678I GOLGA5_uc001yba.1_Missense_Mutation_p.S75I NM_005113 NP_005104 Q8TBA6 GOGA5_HUMAN Golgi autoantigen, golgin subfamily a, 5 678 Cytoplasmic (Potential). Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding ovary(2)|lung(1) 3 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) AAAGCTGCTAGTTCAATTGAT 0.413 T RET papillary thyroid 13 30 --- --- --- --- PASS EML1 2009 broad.mit.edu 37 14 100344847 100344847 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:100344847G>A uc001ygs.2 + 4 478 c.409G>A c.(409-411)GAA>AAA p.E137K EML1_uc010avt.1_Missense_Mutation_p.E124K|EML1_uc010tww.1_Missense_Mutation_p.E125K|EML1_uc001ygq.2_Missense_Mutation_p.E156K|EML1_uc001ygr.2_Missense_Mutation_p.E156K NM_004434 NP_004425 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 137 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding large_intestine(2)|pancreas(1)|ovary(1)|skin(1) 5 Melanoma(154;0.0879)|all_epithelial(191;0.216) CAGCTCTTCTGAACGAGTGTC 0.458 39 86 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105410523 105410523 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:105410523C>A uc010axc.1 - 7 11385 c.11265G>T c.(11263-11265)GCG>GCT p.A3755A AHNAK2_uc001ypx.2_Silent_p.A3655A NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3755 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) CTGTGACTTCCGCCTTGGAGA 0.607 60 196 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105412995 105412995 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:105412995C>A uc010axc.1 - 7 8913 c.8793G>T c.(8791-8793)GAG>GAT p.E2931D AHNAK2_uc001ypx.2_Missense_Mutation_p.E2831D NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2931 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) GGGCCGTCACCTCCGCCTTGG 0.637 60 172 --- --- --- --- PASS PACS2 23241 broad.mit.edu 37 14 105860966 105860966 + Missense_Mutation SNP A C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:105860966A>C uc001yqt.2 + 24 2802 c.2627A>C c.(2626-2628)CAC>CCC p.H876P PACS2_uc001yqs.2_Missense_Mutation_p.H801P|PACS2_uc001yqv.2_Missense_Mutation_p.H880P|PACS2_uc001yqu.2_Missense_Mutation_p.H891P NM_015197 NP_056012 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 876 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion pancreas(1) 1 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) CACGTGAAGCACTTCCCCATC 0.607 32 86 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106318590 106318590 + RNA SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:106318590C>G uc010tyt.1 - 3603 c.56544G>C uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron Parts of antibodies, mostly variable regions. 0 GCGCTCACCTCCCCCTCTGCA 0.662 5 7 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106453074 106453074 + RNA SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr14:106453074C>T uc010tyt.1 - 1974 c.37765G>A Parts of antibodies, mostly variable regions. 0 TGGCTGCTGCCACCAAGAAGA 0.547 9 17 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 15 20645749 20645749 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr15:20645749G>T uc001ytg.2 - 20 3036 c.2327C>A c.(2326-2328)ACT>AAT p.T776N uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.T776N|uc010tyy.1_Missense_Mutation_p.T776N RecName: Full=Putative HERC2-like protein 3; CGAGGTGGCAGTGAAGGGTGC 0.612 4 17 --- --- --- --- PASS NDN 4692 broad.mit.edu 37 15 23932302 23932302 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr15:23932302C>A uc001ywk.2 - 1 149 c.63G>T c.(61-63)GAG>GAT p.E21D NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 21 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TGCTGTGCACCTCGGAGTTGG 0.672 Prader-Willi_syndrome 16 22 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26866506 26866506 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr15:26866506C>A uc001zaz.2 - 4 558 c.416G>T c.(415-417)CGC>CTC p.R139L GABRB3_uc010uae.1_Missense_Mutation_p.R54L|GABRB3_uc001zba.2_Missense_Mutation_p.R139L|GABRB3_uc001zbb.2_Missense_Mutation_p.R195L|GABRB3_uc001zbc.2_RNA NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 139 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 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) ACGGATCATGCGGTTTTTCAC 0.488 28 119 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33927921 33927921 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr15:33927921G>A uc001zhi.2 + 26 3352 c.3282G>A c.(3280-3282)GTG>GTA p.V1094V RYR3_uc010bar.2_Silent_p.V1094V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1094 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) TTGAAGTGGTGACTGGAGGAG 0.542 6 24 --- --- --- --- PASS C15orf24 56851 broad.mit.edu 37 15 34376672 34376672 + Missense_Mutation SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr15:34376672T>C uc001zhm.2 - 5 605 c.592A>G c.(592-594)ATG>GTG p.M198V C15orf24_uc001zhn.2_Missense_Mutation_p.M81V NM_020154 NP_064539 Q9NPA0 CO024_HUMAN chromosome 15 open reading frame 24 precursor 198 Cytoplasmic (Potential). cytoplasm|integral to membrane carbohydrate binding|carboxypeptidase activity|purine nucleotide binding 0 all_lung(180;1.76e-08) all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252) AGCATATTCATTGACTGCTCC 0.408 48 113 --- --- --- --- PASS BUB1B 701 broad.mit.edu 37 15 40504848 40504848 + Missense_Mutation SNP A C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr15:40504848A>C uc001zkx.3 + 19 2746 c.2534A>C c.(2533-2535)CAG>CCG p.Q845P NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 845 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TTCACCCTTCAGGTCTGTAAT 0.328 Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 23 64 --- --- --- --- PASS DISP2 85455 broad.mit.edu 37 15 40660491 40660491 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr15:40660491C>T uc001zlk.1 + 8 2267 c.2178C>T c.(2176-2178)CGC>CGT p.R726R NM_033510 NP_277045 A7MBM2 DISP2_HUMAN dispatched B 726 smoothened signaling pathway integral to membrane ovary(2) 2 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TCAGCCCCCGCCTGCGGCTGC 0.706 5 10 --- --- --- --- PASS TYRO3 7301 broad.mit.edu 37 15 41857275 41857275 + Missense_Mutation SNP A T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr15:41857275A>T uc001zof.1 + 6 943 c.719A>T c.(718-720)AAC>ATC p.N240I NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 240 Fibronectin type-III 1.|Extracellular (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) TCCAGCAGCAACGCTAGTGTG 0.597 17 43 --- --- --- --- PASS MGA 23269 broad.mit.edu 37 15 42028655 42028655 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr15:42028655C>T uc010ucy.1 + 13 4374 c.4193C>T c.(4192-4194)TCT>TTT p.S1398F MGA_uc010ucz.1_Missense_Mutation_p.S1398F|MGA_uc010uda.1_Intron NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 1398 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GTGAAAATCTCTATGCCATCA 0.468 15 37 --- --- --- --- PASS ANP32A 8125 broad.mit.edu 37 15 69113052 69113052 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr15:69113052G>T uc002arl.2 - 1 210 c.39C>A c.(37-39)AAC>AAA p.N13K NM_006305 NP_006296 P39687 AN32A_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 13 intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm protein binding 0 AGGGCGTCCTGTTCCGCAGCT 0.498 9 42 --- --- --- --- PASS KIF23 9493 broad.mit.edu 37 15 69709736 69709736 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr15:69709736G>A uc002asb.2 + 3 213 c.96G>A c.(94-96)GTG>GTA p.V32V KIF23_uc002asc.2_Silent_p.V32V|KIF23_uc010bii.2_5'UTR|KIF23_uc010bih.1_RNA NM_138555 NP_612565 Q02241 KIF23_HUMAN kinesin family member 23 isoform 1 32 Kinesin-motor. blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding 0 ACTGTAGGGTGCGCCCACTGG 0.413 40 99 --- --- --- --- PASS NEO1 4756 broad.mit.edu 37 15 73562757 73562757 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr15:73562757C>T uc002avm.3 + 18 2961 c.2819C>T c.(2818-2820)ACA>ATA p.T940I NEO1_uc010ukx.1_Missense_Mutation_p.T940I|NEO1_uc010uky.1_Missense_Mutation_p.T940I|NEO1_uc010ukz.1_Missense_Mutation_p.T364I|NEO1_uc002avn.3_Missense_Mutation_p.T589I NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 940 Extracellular (Potential).|Fibronectin type-III 5. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 AGATCAAGTACATGGAGTATG 0.423 21 37 --- --- --- --- PASS SV2B 9899 broad.mit.edu 37 15 91769672 91769672 + Missense_Mutation SNP A G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr15:91769672A>G uc002bqv.2 + 1 570 c.179A>G c.(178-180)AAG>AGG p.K60R SV2B_uc002bqt.2_Missense_Mutation_p.K60R|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 60 Cytoplasmic (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GATGATGTCAAGGCCAAGCAG 0.572 18 48 --- --- --- --- PASS PDIA2 64714 broad.mit.edu 37 16 335627 335627 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:335627C>A uc002cgn.1 + 12 2151 c.1043C>A c.(1042-1044)GCG>GAG p.A348E PDIA2_uc010bqt.1_Missense_Mutation_p.A193E|PDIA2_uc002cgo.1_Missense_Mutation_p.A348E NM_006849 NP_006840 Q13087 PDIA2_HUMAN protein disulfide isomerase A2 precursor 348 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding central_nervous_system(1)|skin(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) AAGAAGTATGCGCCTGTGGAT 0.582 7 64 --- --- --- --- PASS WDR24 84219 broad.mit.edu 37 16 735761 735761 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:735761G>A uc002ciz.1 - 6 2356 c.1596C>T c.(1594-1596)AGC>AGT p.S532S JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank NM_032259 NP_115635 Q96S15 WDR24_HUMAN WD repeat domain 24 662 ovary(1)|central_nervous_system(1) 2 Hepatocellular(780;0.0218) CAGGTACGTCGCTGCCCTCGG 0.662 7 91 --- --- --- --- PASS MAPK8IP3 23162 broad.mit.edu 37 16 1756652 1756652 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:1756652G>A uc002cmk.2 + 1 432 c.312G>A c.(310-312)GCG>GCA p.A104A MAPK8IP3_uc002cmi.1_Silent_p.A104A|MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Silent_p.A104A|MAPK8IP3_uc010uvl.1_Silent_p.A104A NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 104 Potential. vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 GCAGGCAGGCGGAGGAGGTGC 0.428 3 3 --- --- --- --- PASS AMDHD2 51005 broad.mit.edu 37 16 2579538 2579538 + Missense_Mutation SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:2579538T>C uc002cqq.2 + 11 1301 c.1204T>C c.(1204-1206)TGG>CGG p.W402R AMDHD2_uc002cqp.2_Missense_Mutation_p.W432R|AMDHD2_uc010uwc.1_Intron|AMDHD2_uc010uwd.1_Intron NM_015944 NP_057028 Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 isoform 1 402 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity skin(2)|large_intestine(1)|breast(1) 4 TGAGCTGGTGTGGCAGGCGGA 0.657 11 118 --- --- --- --- PASS KIAA0430 9665 broad.mit.edu 37 16 15716946 15716946 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:15716946G>A uc002ddr.2 - 11 2498 c.2305C>T c.(2305-2307)CCG>TCG p.P769S KIAA0430_uc002ddq.2_Intron|KIAA0430_uc010uzv.1_Missense_Mutation_p.P765S|KIAA0430_uc010uzw.1_Missense_Mutation_p.P768S NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 768 peroxisome nucleotide binding|RNA binding 0 AAAGCAAGCGGGGATGCTCTG 0.383 31 70 --- --- --- --- PASS C16orf88 400506 broad.mit.edu 37 16 19722719 19722719 + Missense_Mutation SNP T A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:19722719T>A uc002dgq.2 - 3 977 c.962A>T c.(961-963)AAC>ATC p.N321I NM_001012991 NP_001013009 Q1ED39 CP088_HUMAN hypothetical protein LOC400506 321 Interaction with ZFP106 (By similarity). nucleolus 0 CTCATCCATGTTGCCTTTTTT 0.567 8 73 --- --- --- --- PASS CRYM 1428 broad.mit.edu 37 16 21278978 21278978 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:21278978C>T uc002dik.2 - 5 655 c.570G>A c.(568-570)TCG>TCA p.S190S CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Silent_p.S148S|CRYM_uc002dim.2_Silent_p.S190S NM_001888 NP_001879 Q14894 CRYM_HUMAN crystallin, mu isoform 1 190 negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport cytoplasm|nucleus|plasma membrane NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity 0 GBM - Glioblastoma multiforme(48;0.0573) Levothyroxine(DB00451) CCTCCTGGACCGAAGAACAGA 0.512 9 54 --- --- --- --- PASS SCNN1B 6338 broad.mit.edu 37 16 23383105 23383105 + Silent SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:23383105T>C uc002dln.2 + 7 1229 c.1053T>C c.(1051-1053)CTT>CTC p.L351L NM_000336 NP_000327 P51168 SCNNB_HUMAN sodium channel, nonvoltage-gated 1, beta 351 Extracellular (By similarity). excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(3)|breast(2)|large_intestine(1)|pancreas(1) 7 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) AGGACAAGCTTCAGCGCATGG 0.567 61 84 --- --- --- --- PASS XPO6 23214 broad.mit.edu 37 16 28124345 28124345 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:28124345C>T uc002dpa.1 - 16 2532 c.2031G>A c.(2029-2031)GCG>GCA p.A677A XPO6_uc002dpb.1_Silent_p.A663A|XPO6_uc010vcp.1_Silent_p.A677A NM_015171 NP_055986 Q96QU8 XPO6_HUMAN exportin 6 677 protein export from nucleus protein binding|protein transporter activity ovary(1)|skin(1) 2 GTAAGTGGCACGCAGATAGCA 0.552 4 42 --- --- --- --- PASS HIRIP3 8479 broad.mit.edu 37 16 30004865 30004865 + Silent SNP T G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:30004865T>G uc002dve.2 - 6 1883 c.1422A>C c.(1420-1422)CTA>CTC p.L474L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Silent_p.R162R NM_003609 NP_003600 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 474 chromatin assembly or disassembly nucleus protein binding central_nervous_system(1) 1 GACACTTCCCTAGGGAAGGGG 0.637 13 55 --- --- --- --- PASS MYLPF 29895 broad.mit.edu 37 16 30387949 30387949 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:30387949C>T uc002dxv.1 + 5 342 c.286C>T c.(286-288)CCT>TCT p.P96S NM_013292 NP_037424 Q96A32 MLRS_HUMAN myosin light chain, phosphorylatable, fast 96 EF-hand 2. skeletal muscle tissue development muscle myosin complex calcium ion binding|structural constituent of muscle 0 Colorectal(24;0.193) AGGTGCCGACCCTGAGGATGT 0.607 29 31 --- --- --- --- PASS SRCAP 10847 broad.mit.edu 37 16 30722077 30722077 + Silent SNP A T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:30722077A>T uc002dze.1 + 9 1522 c.1137A>T c.(1135-1137)ATA>ATT p.I379I SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.I236I|SRCAP_uc010bzz.1_5'UTR NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 379 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) CCATACAGATAAAGCCCCCAC 0.468 6 72 --- --- --- --- PASS SRCAP 10847 broad.mit.edu 37 16 30722079 30722079 + Missense_Mutation SNP A C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:30722079A>C uc002dze.1 + 9 1524 c.1139A>C c.(1138-1140)AAG>ACG p.K380T SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.K237T|SRCAP_uc010bzz.1_5'UTR NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 380 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) ATACAGATAAAGCCCCCACCC 0.468 6 70 --- --- --- --- PASS MMP15 4324 broad.mit.edu 37 16 58072217 58072217 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:58072217G>T uc002ena.2 + 3 1332 c.359G>T c.(358-360)CGA>CTA p.R120L NM_002428 NP_002419 P51511 MMP15_HUMAN matrix metalloproteinase 15 preproprotein 120 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding central_nervous_system(2)|breast(1) 3 TTCGGGGTACGAGTGAAAGCC 0.652 66 58 --- --- --- --- PASS NOB1 28987 broad.mit.edu 37 16 69788568 69788568 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:69788568G>A uc002exs.2 - 2 141 c.125C>T c.(124-126)ACA>ATA p.T42I NM_014062 NP_054781 Q9ULX3 NOB1_HUMAN nin one binding protein 42 PINc. nucleus metal ion binding|protein binding 0 CCGCCTGCGTGTGGCCTTGTC 0.632 33 35 --- --- --- --- PASS HYDIN 54768 broad.mit.edu 37 16 71101194 71101194 + Missense_Mutation SNP T A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:71101194T>A uc002ezr.2 - 15 2202 c.2074A>T c.(2074-2076)AGG>TGG p.R692W HYDIN_uc010cfz.1_Missense_Mutation_p.R437W|HYDIN_uc002ezv.2_Missense_Mutation_p.R692W|HYDIN_uc010vmc.1_Missense_Mutation_p.R709W|HYDIN_uc010vmd.1_Missense_Mutation_p.R719W|HYDIN_uc002ezw.3_Missense_Mutation_p.R709W NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 692 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GAGCAATACCTTGCTGTAATT 0.582 24 19 --- --- --- --- PASS CLEC18B 497190 broad.mit.edu 37 16 74446697 74446697 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:74446697G>A uc002fct.2 - 6 958 c.758C>T c.(757-759)CCT>CTT p.P253L CLEC18B_uc002fcu.2_Missense_Mutation_p.P253L|CLEC18B_uc010vmu.1_Missense_Mutation_p.P173L|CLEC18B_uc010vmv.1_Missense_Mutation_p.P20L NM_001011880 NP_001011880 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 253 EGF-like. extracellular region sugar binding 0 CGTGTAGCCAGGGGGACAGTG 0.622 8 63 --- --- --- --- PASS ADAD2 161931 broad.mit.edu 37 16 84224969 84224969 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:84224969C>A uc002fhr.2 + 1 247 c.133C>A c.(133-135)CCC>ACC p.P45T ADAD2_uc002fhq.2_Missense_Mutation_p.P45T NM_001145400 NP_001138872 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 isoform 45 RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding 0 TGCCTgggggcccgcgcccgc 0.637 6 4 --- --- --- --- PASS GALNS 2588 broad.mit.edu 37 16 88904108 88904108 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:88904108G>A uc002fly.3 - 5 577 c.488C>T c.(487-489)CCC>CTC p.P163L GALNS_uc010cid.2_Missense_Mutation_p.P169L|GALNS_uc002flz.3_Intron NM_000512 NP_000503 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 163 lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity large_intestine(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) GTGGCAGTTGGGGGATCCAAA 0.582 61 56 --- --- --- --- PASS CPNE7 27132 broad.mit.edu 37 16 89662918 89662918 + Nonsense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr16:89662918C>A uc002fnp.2 + 17 1921 c.1791C>A c.(1789-1791)TGC>TGA p.C597* CPNE7_uc002fnq.2_Nonsense_Mutation_p.C522* NM_014427 NP_055242 Q9UBL6 CPNE7_HUMAN copine 7 isoform b 597 lipid metabolic process transporter activity 0 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) TGGCCAAGTGCGTGCTGGCCG 0.642 4 72 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578407 7578407 + Missense_Mutation SNP G C C rs138729528 TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr17:7578407G>C uc002gim.2 - 5 717 c.523C>G c.(523-525)CGC>GGC p.R175G TP53_uc002gig.1_Missense_Mutation_p.R175G|TP53_uc002gih.2_Missense_Mutation_p.R175G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43G|TP53_uc010cng.1_Missense_Mutation_p.R43G|TP53_uc002gii.1_Missense_Mutation_p.R43G|TP53_uc010cnh.1_Missense_Mutation_p.R175G|TP53_uc010cni.1_Missense_Mutation_p.R175G|TP53_uc002gij.2_Missense_Mutation_p.R175G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82G|TP53_uc002gio.2_Missense_Mutation_p.R43G|TP53_uc010vug.1_Missense_Mutation_p.R136G NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (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.R175H(721)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(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) TGGGGGCAGCGCCTCACAACC 0.657 111 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) 24 27 --- --- --- --- PASS PER1 5187 broad.mit.edu 37 17 8045139 8045139 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr17:8045139C>A uc002gkd.2 - 22 3822 c.3584G>T c.(3583-3585)CGG>CTG p.R1195L PER1_uc010cns.2_Missense_Mutation_p.R69L|PER1_uc010vuq.1_RNA NM_002616 NP_002607 O15534 PER1_HUMAN period 1 1195 CRY binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 ATCAAGAGCCCGAGGCAGTTG 0.567 T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 65 64 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11642264 11642264 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr17:11642264G>T uc002gne.2 + 29 5950 c.5882G>T c.(5881-5883)AGC>ATC p.S1961I DNAH9_uc010coo.2_Missense_Mutation_p.S1255I NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1961 AAA 1 (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) GAGGAGATCAGCCTGAATCCT 0.483 44 46 --- --- --- --- PASS NCOR1 9611 broad.mit.edu 37 17 15952254 15952254 + Nonsense_Mutation SNP G T T rs144480346 byFrequency TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr17:15952254G>T uc002gpo.2 - 41 6681 c.6441C>A c.(6439-6441)TAC>TAA p.Y2147* NCOR1_uc002gpn.2_Nonsense_Mutation_p.Y2044*|NCOR1_uc002gpl.2_Nonsense_Mutation_p.Y162*|NCOR1_uc002gpm.2_Nonsense_Mutation_p.Y667*|NCOR1_uc010vwb.1_Nonsense_Mutation_p.Y731*|NCOR1_uc010coy.2_Nonsense_Mutation_p.Y1055*|NCOR1_uc010vwc.1_Nonsense_Mutation_p.Y957* NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 2147 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AGATGGGCTCGTAGGGCTCCG 0.522 19 74 --- --- --- --- PASS FAM18B 51030 broad.mit.edu 37 17 18694245 18694245 + Silent SNP A T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr17:18694245A>T uc002gum.2 + 3 157 c.132A>T c.(130-132)CGA>CGT p.R44R FAM18B_uc002gun.2_5'UTR NM_016078 NP_057162 Q9NYZ1 F18B1_HUMAN hypothetical protein LOC51030 44 Helical; (Potential). integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (53;0.0872)|READ - Rectum adenocarcinoma(1115;0.0967) TATTCTTTCGAGTCAGTGCAA 0.388 108 91 --- --- --- --- PASS PIGS 94005 broad.mit.edu 37 17 26881995 26881995 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr17:26881995C>T uc002hbo.2 - 11 1639 c.1266G>A c.(1264-1266)GAG>GAA p.E422E UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Silent_p.E414E|PIGS_uc010wap.1_Silent_p.E361E NM_033198 NP_149975 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, 422 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(2)|urinary_tract(1)|kidney(1) 4 Lung NSC(42;0.00431) GCCGGTCTAGCTCCCAGGTCA 0.587 9 35 --- --- --- --- PASS TMEM132E 124842 broad.mit.edu 37 17 32961865 32961865 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr17:32961865G>A uc002hif.2 + 8 1794 c.1466G>A c.(1465-1467)CGG>CAG p.R489Q NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 489 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) GAGGAGCGGCGGCAGAGTGCA 0.622 6 15 --- --- --- --- PASS CNTNAP1 8506 broad.mit.edu 37 17 40845547 40845547 + Nonsense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr17:40845547C>A uc002iay.2 + 18 3201 c.2985C>A c.(2983-2985)TGC>TGA p.C995* CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 995 EGF-like 2.|Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GGCCATACTGCAACCACGGTA 0.562 22 131 --- --- --- --- PASS COL1A1 1277 broad.mit.edu 37 17 48267439 48267439 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr17:48267439C>T uc002iqm.2 - 36 2608 c.2482G>A c.(2482-2484)GAA>AAA p.E828K NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 828 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) TCACCAGGTTCGCCTTTAGCA 0.657 T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 13 81 --- --- --- --- PASS C17orf71 55181 broad.mit.edu 37 17 57288727 57288727 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr17:57288727C>T uc002ixi.2 + 1 1357 c.1315C>T c.(1315-1317)CAT>TAT p.H439Y NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 439 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) ACAGCCTTCCCATTTTGAACT 0.478 36 107 --- --- --- --- PASS ABCA8 10351 broad.mit.edu 37 17 66873754 66873754 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr17:66873754C>T uc002jhp.2 - 31 4164 c.3985G>A c.(3985-3987)GCG>ACG p.A1329T ABCA8_uc002jhq.2_Missense_Mutation_p.A1369T|ABCA8_uc010wqq.1_Missense_Mutation_p.A1364T NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 1329 ABC transporter 2. 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) GGCCACAGCGCGTTCTCCTGA 0.597 40 210 --- --- --- --- PASS SDK2 54549 broad.mit.edu 37 17 71427679 71427679 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr17:71427679C>G uc010dfm.2 - 11 1442 c.1442G>C c.(1441-1443)CGG>CCG p.R481P SDK2_uc010dfn.2_Missense_Mutation_p.R160P NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 481 Ig-like C2-type 5.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 ATCGACCCCCCGAGAGTTGGT 0.602 36 361 --- --- --- --- PASS EVPL 2125 broad.mit.edu 37 17 74004655 74004655 + Missense_Mutation SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr17:74004655T>C uc002jqi.2 - 22 4859 c.4631A>G c.(4630-4632)AAC>AGC p.N1544S EVPL_uc010wss.1_Missense_Mutation_p.N1566S|EVPL_uc010wst.1_Missense_Mutation_p.N1014S NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 1544 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 GCGCTCCCTGTTGAGCATCTC 0.672 10 48 --- --- --- --- PASS FOXK2 3607 broad.mit.edu 37 17 80477930 80477930 + Missense_Mutation SNP A T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr17:80477930A>T uc002kfn.2 + 1 337 c.166A>T c.(166-168)ATC>TTC p.I56F FOXK2_uc002kfm.1_Missense_Mutation_p.I56F|FOXK2_uc010diu.2_Missense_Mutation_p.I56F NM_004514 NP_004505 Q01167 FOXK2_HUMAN forkhead box K2 56 FHA.|Gly-rich. AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) CTCGGTGACCATCGGCCGCAA 0.557 29 44 --- --- --- --- PASS CIDEA 1149 broad.mit.edu 37 18 12277260 12277260 + Silent SNP G T T rs147817564 byFrequency TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr18:12277260G>T uc002kqt.3 + 5 716 c.651G>T c.(649-651)ACG>ACT p.T217T CIDEA_uc002kqu.3_Silent_p.T251T|CIDEA_uc010dlc.2_RNA NM_001279 NP_001270 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a isoform 217 DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity ovary(1)|central_nervous_system(1) 2 GCAGGTTCACGTGTGGATAGG 0.537 31 59 --- --- --- --- PASS KIAA1012 22878 broad.mit.edu 37 18 29496235 29496235 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr18:29496235C>T uc002kxc.3 - 4 981 c.617G>A c.(616-618)AGA>AAA p.R206K KIAA1012_uc002kxb.3_Missense_Mutation_p.R152K|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Missense_Mutation_p.R206K NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 206 ER to Golgi vesicle-mediated transport cis-Golgi network 0 AAAAACTTACCTCTGTTCATC 0.284 24 25 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31326458 31326458 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr18:31326458C>A uc010dmg.1 + 12 6701 c.6646C>A c.(6646-6648)CGG>AGG p.R2216R ASXL3_uc002kxq.2_Silent_p.R1923R NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 2216 PHD-type; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 ATGCTCTTGCCGGCTGAAAGC 0.507 35 47 --- --- --- --- PASS NOL4 8715 broad.mit.edu 37 18 31463262 31463262 + Missense_Mutation SNP T A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr18:31463262T>A uc010dmi.2 - 10 1898 c.1669A>T c.(1669-1671)AGT>TGT p.S557C NOL4_uc010xbs.1_Missense_Mutation_p.S272C|NOL4_uc002kxr.3_Missense_Mutation_p.S329C|NOL4_uc010xbt.1_Missense_Mutation_p.S483C|NOL4_uc010dmh.2_Missense_Mutation_p.S419C|NOL4_uc010xbu.1_Missense_Mutation_p.S493C|NOL4_uc002kxt.3_Missense_Mutation_p.S455C NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 557 nucleolus RNA binding ovary(3) 3 CCTCTGTAACTATGGTAACTA 0.423 96 108 --- --- --- --- PASS SIGLEC15 284266 broad.mit.edu 37 18 43418836 43418836 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr18:43418836G>A uc002lbl.1 + 4 799 c.650G>A c.(649-651)GGT>GAT p.G217D SIGLEC15_uc010xcp.1_RNA NM_213602 NP_998767 Q6ZMC9 SIG15_HUMAN sialic acid binding Ig-like lectin 15 precursor 217 Extracellular (Potential).|Ig-like C2-type. integral to membrane 0 CCGCGTGAGGGTCACGGCCAC 0.746 7 0 --- --- --- --- PASS TCEB3C 162699 broad.mit.edu 37 18 44555221 44555221 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr18:44555221C>A uc010xdb.1 - 1 1229 c.993G>T c.(991-993)CAG>CAT p.Q331H KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 331 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 GCACCTGGAGCTGGCAGGCAG 0.657 24 505 --- --- --- --- PASS SERPINB2 5055 broad.mit.edu 37 18 61570219 61570219 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr18:61570219C>G uc010xeu.1 + 9 1261 c.928C>G c.(928-930)CCC>GCC p.P310A SERPINB2_uc002ljo.2_Missense_Mutation_p.P310A|SERPINB2_uc010dqh.2_Missense_Mutation_p.P240A|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron NM_001143818 NP_001137290 P05120 PAI2_HUMAN serine (or cysteine) proteinase inhibitor, clade 310 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity lung(1)|skin(1) 2 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) GGTATACATACCCCAGTTCAA 0.413 26 79 --- --- --- --- PASS C18orf55 29090 broad.mit.edu 37 18 71816224 71816224 + Missense_Mutation SNP A T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr18:71816224A>T uc010dqr.1 + 1 479 c.181A>T c.(181-183)ACC>TCC p.T61S FBXO15_uc002lle.2_5'Flank|FBXO15_uc002llf.2_5'Flank NM_014177 NP_054896 Q9BVV7 TI21L_HUMAN hypothetical protein LOC29090 precursor 61 protein transport|transmembrane transport integral to membrane|mitochondrial membrane 0 Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211) TCTTGGAGTCACCCAGAAAAC 0.517 11 136 --- --- --- --- PASS AES 166 broad.mit.edu 37 19 3053947 3053947 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:3053947G>C uc002lwy.1 - 7 637 c.464C>G c.(463-465)CCG>CGG p.P155R AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Missense_Mutation_p.P154R|AES_uc002lxa.1_Missense_Mutation_p.P99R|AES_uc002lxb.1_Missense_Mutation_p.P222R|AES_uc002lxc.2_Silent_p.A248A NM_001130 NP_001121 Q08117 AES_HUMAN amino-terminal enhancer of split isoform b 155 Gly/Pro-rich (GP domain). negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor 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) GCTGACCGCCGGCAGCGAAGG 0.701 7 8 --- --- --- --- PASS DENND1C 79958 broad.mit.edu 37 19 6479048 6479048 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:6479048C>G uc002mfe.2 - 5 288 c.196G>C c.(196-198)GTG>CTG p.V66L DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.V22L NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 66 UDENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity large_intestine(1) 1 AAATGCTGCACGGCGGGGCTG 0.632 32 87 --- --- --- --- PASS ZNF177 7730 broad.mit.edu 37 19 9492293 9492293 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:9492293G>A uc002mli.2 + 12 1469 c.806G>A c.(805-807)TGT>TAT p.C269Y ZNF177_uc002mlj.2_Missense_Mutation_p.C219Y|ZNF177_uc002mlk.2_Missense_Mutation_p.C269Y NM_003451 NP_003442 Q13360 ZN177_HUMAN zinc finger protein 177 269 C2H2-type 6. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGTAAAGAATGTGGGAAGGCC 0.438 78 126 --- --- --- --- PASS ZNF121 7675 broad.mit.edu 37 19 9677208 9677208 + Missense_Mutation SNP T A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:9677208T>A uc010xkp.1 - 4 813 c.581A>T c.(580-582)CAT>CTT p.H194L ZNF121_uc010dwt.2_Missense_Mutation_p.H194L|ZNF121_uc010xkq.1_Missense_Mutation_p.H194L NM_001008727 NP_001008727 P58317 ZN121_HUMAN zinc finger protein 121 194 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTCTCCAGTATGAATTCTTAC 0.448 3 130 --- --- --- --- PASS RDH8 50700 broad.mit.edu 37 19 10131415 10131415 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:10131415C>T uc002mmr.2 + 4 722 c.473C>T c.(472-474)TCC>TTC p.S158F NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 158 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) TATGCAGCTTCCAAGTTCGCC 0.577 5 39 --- --- --- --- PASS ILF3 3609 broad.mit.edu 37 19 10782046 10782046 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:10782046G>A uc002mpn.2 + 4 563 c.246G>A c.(244-246)ACG>ACA p.T82T ILF3_uc002mpm.2_Silent_p.T82T|ILF3_uc002mpl.2_Silent_p.T82T|ILF3_uc002mpk.2_Silent_p.T82T|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Silent_p.T82T NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 82 M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) AACAGAAGACGGAGCACATGA 0.582 78 185 --- --- --- --- PASS ZNF625 90589 broad.mit.edu 37 19 12256217 12256217 + Silent SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:12256217T>C uc002mth.2 - 4 1166 c.816A>G c.(814-816)AAA>AAG p.K272K ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Silent_p.K306K NM_145233 NP_660276 Q96I27 ZN625_HUMAN zinc finger protein 625 272 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATCCAAAGGCTTTACCACATT 0.473 3 174 --- --- --- --- PASS FBXW9 84261 broad.mit.edu 37 19 12805660 12805660 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:12805660G>C uc010dyx.2 - 2 472 c.472C>G c.(472-474)CTG>GTG p.L158V FBXW9_uc010xmp.1_Intron|FBXW9_uc002mum.1_Missense_Mutation_p.L168V|FBXW9_uc002mun.1_Intron NM_032301 NP_115677 Q5XUX1 FBXW9_HUMAN F-box and WD-40 domain protein 9 168 protein binding ovary(1) 1 CCTTCGGCCAGGCAGAAGTAT 0.657 12 31 --- --- --- --- PASS PLVAP 83483 broad.mit.edu 37 19 17487871 17487871 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:17487871C>T uc002ngk.1 - 1 277 c.227G>A c.(226-228)GGG>GAG p.G76E NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 76 Potential.|Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 GGCCGTGAGCCCTAGGAGCTG 0.612 11 64 --- --- --- --- PASS FCHO1 23149 broad.mit.edu 37 19 17875189 17875189 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:17875189C>A uc010ebb.2 + 5 314 c.125C>A c.(124-126)ACC>AAC p.T42N FCHO1_uc002nhg.3_Missense_Mutation_p.T42N|FCHO1_uc002nhh.2_Missense_Mutation_p.T42N|FCHO1_uc010xpw.1_5'UTR|FCHO1_uc010ebc.1_Missense_Mutation_p.T49N NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 42 FCH. breast(1) 1 CCCAGGGCCACCATCGAGGAG 0.423 24 63 --- --- --- --- PASS KLHL26 55295 broad.mit.edu 37 19 18778613 18778613 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:18778613G>T uc002njz.1 + 3 433 c.406G>T c.(406-408)GTG>TTG p.V136L NM_018316 NP_060786 Q53HC5 KLH26_HUMAN kelch-like 26 136 ovary(1) 1 CGTGCAGGACGTGCTGGGCGC 0.657 37 65 --- --- --- --- PASS DMKN 93099 broad.mit.edu 37 19 36002311 36002311 + Splice_Site SNP A T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:36002311A>T uc002nzm.3 - 5 1101 c.918_splice c.e5+1 p.W306_splice DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Intron|DMKN_uc002nzn.3_Intron|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_Intron|DMKN_uc002oac.3_Splice_Site_p.W306_splice|DMKN_uc010eeb.2_Splice_Site_p.W306_splice|DMKN_uc002oaa.3_Splice_Site_p.W306_splice|DMKN_uc002oab.3_Splice_Site_p.W306_splice NM_033317 NP_201574 Q6E0U4 DMKN_HUMAN dermokine isoform 2 precursor extracellular region large_intestine(1)|ovary(1)|skin(1) 3 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TGCCAAACTCACCCAGGAGGA 0.408 14 45 --- --- --- --- PASS ZNF540 163255 broad.mit.edu 37 19 38102578 38102578 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:38102578G>A uc002ogq.2 + 5 729 c.397G>A c.(397-399)GGA>AGA p.G133R ZNF540_uc002ogu.2_Missense_Mutation_p.G133R|ZNF540_uc010efq.2_Missense_Mutation_p.G101R NM_152606 NP_689819 Q8NDQ6 ZN540_HUMAN zinc finger protein 540 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGGTCAACAGGGACTTAAAGA 0.338 39 247 --- --- --- --- PASS ZNF540 163255 broad.mit.edu 37 19 38103723 38103723 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:38103723G>C uc002ogq.2 + 5 1874 c.1542G>C c.(1540-1542)CAG>CAC p.Q514H ZNF540_uc002ogu.2_Missense_Mutation_p.Q514H|ZNF540_uc010efq.2_Missense_Mutation_p.Q482H NM_152606 NP_689819 Q8NDQ6 ZN540_HUMAN zinc finger protein 540 514 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTGAACACCAGAGAATTCACA 0.358 23 132 --- --- --- --- PASS CEACAM6 4680 broad.mit.edu 37 19 42260847 42260847 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:42260847C>A uc002orm.2 + 2 553 c.404C>A c.(403-405)ACC>AAC p.T135N NM_002483 NP_002474 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion 135 Ig-like V-type. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) GAAGAAGCAACCGGACAGTTC 0.488 139 333 --- --- --- --- PASS ZNF229 7772 broad.mit.edu 37 19 44933308 44933308 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:44933308C>G uc002oze.1 - 6 2082 c.1648G>C c.(1648-1650)GGG>CGG p.G550R ZNF229_uc010ejk.1_Missense_Mutation_p.G204R|ZNF229_uc010ejl.1_Missense_Mutation_p.G544R NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 550 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) AAGCTCTTCCCGCACTCGCAT 0.527 25 90 --- --- --- --- PASS PPFIA3 8541 broad.mit.edu 37 19 49636538 49636538 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:49636538C>T uc002pmr.2 + 9 1403 c.1071C>T c.(1069-1071)GCC>GCT p.A357A PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Silent_p.A281A|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Silent_p.A225A NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 357 Potential. cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) TGGACGACGCCAAGCAGAAGC 0.682 9 34 --- --- --- --- PASS U2AF2 11338 broad.mit.edu 37 19 56180887 56180887 + Silent SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:56180887G>C uc002qlu.2 + 11 2177 c.1122G>C c.(1120-1122)CCG>CCC p.P374P U2AF2_uc002qlt.2_Silent_p.P370P NM_007279 NP_009210 P26368 U2AF2_HUMAN U2 (RNU2) small nuclear RNA auxiliary factor 2 374 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding ovary(1) 1 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) GCGGCCACCCGACTGAGGTCC 0.637 12 9 --- --- --- --- PASS NLRP5 126206 broad.mit.edu 37 19 56539242 56539242 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr19:56539242G>A uc002qmj.2 + 7 1643 c.1643G>A c.(1642-1644)GGT>GAT p.G548D NLRP5_uc002qmi.2_Missense_Mutation_p.G529D NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 548 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GTGTTTGACGGTGACGACCTC 0.547 16 9 --- --- --- --- PASS TMC2 117532 broad.mit.edu 37 20 2560663 2560663 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr20:2560663C>A uc002wgf.1 + 7 810 c.795C>A c.(793-795)GTC>GTA p.V265V TMC2_uc002wgg.1_Silent_p.V249V|TMC2_uc010zpw.1_Silent_p.V97V|TMC2_uc010zpx.1_Silent_p.V96V NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 265 Helical; (Potential). integral to membrane ovary(3) 3 TTAACCTTGTCCTTTTTGGCT 0.403 46 139 --- --- --- --- PASS PRND 23627 broad.mit.edu 37 20 4705266 4705266 + Silent SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr20:4705266G>T uc002wkz.2 + 2 140 c.69G>T c.(67-69)GCG>GCT p.A23A NM_012409 NP_036541 Q9UKY0 PRND_HUMAN prion-like protein doppel preproprotein 23 protein homooligomerization anchored to membrane|plasma membrane 0 ACCTCTCTGCGGTCCAGACGA 0.632 35 65 --- --- --- --- PASS SNX5 27131 broad.mit.edu 37 20 17930812 17930812 + Missense_Mutation SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr20:17930812T>C uc002wqc.2 - 8 841 c.755A>G c.(754-756)CAT>CGT p.H252R SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Missense_Mutation_p.H252R|SNX5_uc002wqe.2_Missense_Mutation_p.H147R|SNX5_uc010zrt.1_Missense_Mutation_p.H252R NM_014426 NP_055241 Q9Y5X3 SNX5_HUMAN sorting nexin 5 252 BAR. cell communication|pinocytosis|protein transport cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle phosphatidylinositol binding large_intestine(1) 1 AGCCAGGCTATGTAAGCAGGC 0.438 54 95 --- --- --- --- PASS CST4 1472 broad.mit.edu 37 20 23666577 23666577 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr20:23666577C>A uc002wto.1 - 3 436 c.380G>T c.(379-381)TGG>TTG p.W127L NM_001899 NP_001890 P01036 CYTS_HUMAN cystatin S precursor 127 extracellular region cysteine-type endopeptidase inhibitor activity breast(1) 1 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) TCTGTCCTCCCAGGGAACTTC 0.542 29 44 --- --- --- --- PASS GGTLC1 92086 broad.mit.edu 37 20 23967233 23967233 + Missense_Mutation SNP A C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr20:23967233A>C uc002wts.2 - 2 149 c.16T>G c.(16-18)TTC>GTC p.F6V GGTLC1_uc002wtu.2_Missense_Mutation_p.F6V NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 6 gamma-glutamyltransferase activity ovary(1) 1 TGGGCAGAGAAGAACTCGGAG 0.647 19 90 --- --- --- --- PASS ABHD12 26090 broad.mit.edu 37 20 25284237 25284237 + Silent SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr20:25284237G>T uc002wus.1 - 11 1116 c.978C>A c.(976-978)CTC>CTA p.L326L ABHD12_uc002wuq.2_Silent_p.L326L|ABHD12_uc002wur.2_Silent_p.L325L|ABHD12_uc002wut.1_Silent_p.L325L|ABHD12_uc002wuu.1_Silent_p.L106L NM_001042472 NP_001035937 Q8N2K0 ABD12_HUMAN abhydrolase domain containing 12 isoform a 326 Extracellular (Potential). integral to membrane acylglycerol lipase activity skin(1) 1 CGTGCAGGATGAGCAGGGGAC 0.612 34 83 --- --- --- --- PASS KIF3B 9371 broad.mit.edu 37 20 30898384 30898384 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr20:30898384C>A uc002wxq.2 + 2 971 c.804C>A c.(802-804)ATC>ATA p.I268I KIF3B_uc010ztv.1_Silent_p.I268I|KIF3B_uc010ztw.1_Silent_p.I268I NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 268 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CTACCAAGATCAACCTCTCCC 0.502 16 118 --- --- --- --- PASS PPP1R16B 26051 broad.mit.edu 37 20 37464809 37464809 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr20:37464809G>A uc002xje.2 + 2 430 c.241G>A c.(241-243)GCC>ACC p.A81T PPP1R16B_uc010ggc.2_Missense_Mutation_p.A81T NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 81 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) GAGGAACGACGCCGAGGAAGG 0.647 11 71 --- --- --- --- PASS L3MBTL 26013 broad.mit.edu 37 20 42161437 42161437 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr20:42161437G>A uc010zwh.1 + 12 1289 c.1243G>A c.(1243-1245)GTG>ATG p.V415M L3MBTL_uc002xkl.2_Missense_Mutation_p.V347M|L3MBTL_uc002xkm.2_Missense_Mutation_p.V347M|L3MBTL_uc010ggl.2_Missense_Mutation_p.V347M|L3MBTL_uc002xkn.1_Missense_Mutation_p.V106M|L3MBTL_uc002xko.2_Translation_Start_Site NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 347 MBT 2. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GGGCTTCCAGGTGGGCATGAA 0.607 124 200 --- --- --- --- PASS SPATA2 9825 broad.mit.edu 37 20 48522387 48522387 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr20:48522387C>T uc010gie.2 - 3 1682 c.1332G>A c.(1330-1332)CCG>CCA p.P444P SPATA2_uc002xuw.2_Silent_p.P444P|SPATA2_uc010zyn.1_Silent_p.P307P NM_001135773 NP_001129245 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 444 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) AGTGAAGGTGCGGGAGGCGGT 0.652 27 133 --- --- --- --- PASS ATP9A 10079 broad.mit.edu 37 20 50245527 50245527 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr20:50245527C>T uc002xwg.1 - 16 1753 c.1753G>A c.(1753-1755)GAG>AAG p.E585K ATP9A_uc010gih.1_Missense_Mutation_p.E449K|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 585 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 ACCTCTTCCTCCAACCAGTCA 0.478 21 160 --- --- --- --- PASS CABLES2 81928 broad.mit.edu 37 20 60967462 60967462 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr20:60967462C>T uc002ycv.2 - 8 1081 c.1074G>A c.(1072-1074)ACG>ACA p.T358T NM_031215 NP_112492 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 358 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity pancreas(1) 1 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) TTTTGCTCAGCGTCAGTTTGA 0.527 27 122 --- --- --- --- PASS CABLES2 81928 broad.mit.edu 37 20 60967492 60967492 + Silent SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr20:60967492G>A uc002ycv.2 - 8 1051 c.1044C>T c.(1042-1044)TTC>TTT p.F348F NM_031215 NP_112492 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 348 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity pancreas(1) 1 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) ACTTCTCCCTGAAGGTCTCGT 0.572 33 137 --- --- --- --- PASS C20orf151 140893 broad.mit.edu 37 20 60987708 60987708 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr20:60987708C>T uc002ycw.1 - 13 2005 c.1848G>A c.(1846-1848)AGG>AGA p.R616R NM_080833 NP_543023 Q8NC74 CT151_HUMAN hypothetical protein LOC140893 616 0 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;6.43e-06) AGGCCCGCTTCCTCTTCCGTG 0.697 23 75 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10921956 10921956 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr21:10921956G>T uc002yip.1 - 18 1435 c.1067C>A c.(1066-1068)TCT>TAT p.S356Y TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S338Y|TPTE_uc002yir.1_Missense_Mutation_p.S318Y|TPTE_uc010gkv.1_Missense_Mutation_p.S218Y NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 356 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACATATTTCAGAGGCAATAAG 0.343 17 191 --- --- --- --- PASS HUNK 30811 broad.mit.edu 37 21 33368230 33368230 + Silent SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr21:33368230G>T uc002yph.2 + 10 1815 c.1455G>T c.(1453-1455)CGG>CGT p.R485R NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 485 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 TGAAGGACCGGAAGGCCTCCA 0.572 8 31 --- --- --- --- PASS KRTAP10-5 386680 broad.mit.edu 37 21 45999822 45999822 + Missense_Mutation SNP T C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr21:45999822T>C uc002zfl.1 - 1 660 c.634A>G c.(634-636)ACC>GCC p.T212A C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198694 NP_941967 P60370 KR105_HUMAN keratin associated protein 10-5 212 22 X 5 AA repeats of C-C-X(3).|18. keratin filament 0 CAGCAGGAGGTGGTGCAGCAA 0.647 7 143 --- --- --- --- PASS LARGE 9215 broad.mit.edu 37 22 33960856 33960856 + Missense_Mutation SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr22:33960856C>A uc003and.3 - 7 1344 c.765G>T c.(763-765)TGG>TGT p.W255C LARGE_uc011amd.1_Missense_Mutation_p.W54C|LARGE_uc003ane.3_Missense_Mutation_p.W255C|LARGE_uc010gwp.2_Missense_Mutation_p.W255C|LARGE_uc011ame.1_Missense_Mutation_p.W187C|LARGE_uc011amf.1_Missense_Mutation_p.W255C|LARGE_uc010gwq.1_RNA NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 255 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) GGAACACAGCCCACAGCTCTG 0.468 94 80 --- --- --- --- PASS CACNA1I 8911 broad.mit.edu 37 22 39996588 39996588 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr22:39996588G>A uc003ayc.2 + 3 412 c.412G>A c.(412-414)GGG>AGG p.G138R CACNA1I_uc003ayd.2_Missense_Mutation_p.G138R|CACNA1I_uc003aye.2_Missense_Mutation_p.G53R|CACNA1I_uc003ayf.2_Missense_Mutation_p.G53R NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 138 I.|Helical; Name=S2 of repeat I; (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GGTGGCCCTGGGGATTTTTGG 0.562 18 28 --- --- --- --- PASS MOV10L1 54456 broad.mit.edu 37 22 50564637 50564637 + Missense_Mutation SNP A T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr22:50564637A>T uc003bjj.2 + 12 1837 c.1754A>T c.(1753-1755)AAA>ATA p.K585I MOV10L1_uc003bjk.3_Missense_Mutation_p.K585I|MOV10L1_uc011arp.1_Missense_Mutation_p.K565I|MOV10L1_uc011arq.1_Missense_Mutation_p.K346I|MOV10L1_uc010hao.1_Intron NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 585 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) CTAGGTGATAAACTGATTTTA 0.348 13 45 --- --- --- --- PASS MAGEB6 158809 broad.mit.edu 37 X 26212893 26212893 + Missense_Mutation SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chrX:26212893C>G uc004dbr.2 + 2 1079 c.930C>G c.(928-930)TTC>TTG p.F310L MAGEB6_uc010ngc.1_Missense_Mutation_p.F90L NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 310 MAGE. ovary(3) 3 TCTGGGAGTTCCTGGGTCTGT 0.498 142 67 --- --- --- --- PASS DGKK 139189 broad.mit.edu 37 X 50213033 50213033 + Silent SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chrX:50213033C>T uc010njr.1 - 1 705 c.645G>A c.(643-645)AAG>AAA p.K215K NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 215 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) TTTTGCTTACCTTTATTCTGG 0.478 19 14 --- --- --- --- PASS TRO 7216 broad.mit.edu 37 X 54955360 54955360 + Missense_Mutation SNP G A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chrX:54955360G>A uc004dtq.2 + 12 2310 c.2203G>A c.(2203-2205)GAT>AAT p.D735N TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.D266N|TRO_uc004dtw.2_Missense_Mutation_p.D338N|TRO_uc004dtx.2_Missense_Mutation_p.D118N NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 735 embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 TGGCTTCAGCGATGGTGCTAG 0.527 11 8 --- --- --- --- PASS MTMR8 55613 broad.mit.edu 37 X 63488712 63488712 + Missense_Mutation SNP T C C rs137876373 TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chrX:63488712T>C uc004dvs.2 - 14 1888 c.1820A>G c.(1819-1821)GAC>GGC p.D607G MTMR8_uc011mou.1_Intron NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 607 nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 ATGGTGGAGGTCTGCACCCTG 0.527 29 17 --- --- --- --- PASS LAS1L 81887 broad.mit.edu 37 X 64749594 64749594 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chrX:64749594G>C uc004dwa.1 - 5 751 c.679C>G c.(679-681)CCA>GCA p.P227A LAS1L_uc004dwc.1_Missense_Mutation_p.P227A|LAS1L_uc004dwd.1_Missense_Mutation_p.P185A NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 227 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 TGAGGCTCTGGTTTCTGTTCT 0.483 119 69 --- --- --- --- PASS PHKA1 5255 broad.mit.edu 37 X 71830999 71830999 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chrX:71830999C>T uc004eax.3 - 22 2706 c.2405G>A c.(2404-2406)CGG>CAG p.R802Q PHKA1_uc004eay.3_Missense_Mutation_p.R802Q|PHKA1_uc011mqi.1_Missense_Mutation_p.R743Q NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 802 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity p.R802W(1) ovary(3)|skin(1) 4 Renal(35;0.156) TGTAGCACTCCGTTCATTATA 0.428 20 45 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73061238 73061238 + RNA SNP C G G TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chrX:73061238C>G uc004ebm.1 - 1 c.11351G>C NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 GAGCCAGAGACTCTTCTTTAC 0.398 30 19 --- --- --- --- PASS MAGEE1 57692 broad.mit.edu 37 X 75650025 75650025 + Missense_Mutation SNP C T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chrX:75650025C>T uc004ecm.1 + 1 1909 c.1702C>T c.(1702-1704)CCC>TCC p.P568S NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 568 MAGE 1. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 GGGACCTGTGCCCTTTGAAGG 0.498 21 12 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91134115 91134115 + Missense_Mutation SNP A T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chrX:91134115A>T uc004efk.1 + 2 3721 c.2876A>T c.(2875-2877)AAG>ATG p.K959M PCDH11X_uc004efl.1_Missense_Mutation_p.K959M|PCDH11X_uc004efo.1_Missense_Mutation_p.K959M|PCDH11X_uc010nmv.1_Missense_Mutation_p.K959M|PCDH11X_uc004efm.1_Missense_Mutation_p.K959M|PCDH11X_uc004efn.1_Missense_Mutation_p.K959M|PCDH11X_uc004efh.1_Missense_Mutation_p.K959M|PCDH11X_uc004efj.1_Missense_Mutation_p.K959M NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 959 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CTGAATTCGAAGCACCACATC 0.502 4 171 --- --- --- --- PASS GUCY2F 2986 broad.mit.edu 37 X 108625392 108625392 + Silent SNP C A A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chrX:108625392C>A uc004eod.3 - 17 3381 c.3105G>T c.(3103-3105)CTG>CTT p.L1035L GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 1035 Cytoplasmic (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 lung(4)|breast(3)|central_nervous_system(1) 8 AGCCCTCACTCAGATTTTGAA 0.423 113 69 --- --- --- --- PASS SPANXN2 494119 broad.mit.edu 37 X 142795233 142795233 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chrX:142795233G>T uc004fbz.2 - 2 1199 c.445C>A c.(445-447)CAG>AAG p.Q149K NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 149 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TCGTCCTCCTGTGAAGATCCT 0.527 198 131 --- --- --- --- PASS SPANXN2 494119 broad.mit.edu 37 X 142795311 142795311 + Missense_Mutation SNP G T T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chrX:142795311G>T uc004fbz.2 - 2 1121 c.367C>A c.(367-369)CAG>AAG p.Q123K NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 123 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TCGTCCTCCTGTGAAGATCCT 0.522 14 275 --- --- --- --- PASS IRAK1 3654 broad.mit.edu 37 X 153279561 153279561 + Missense_Mutation SNP G C C TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chrX:153279561G>C uc004fjs.1 - 11 1550 c.1471C>G c.(1471-1473)CTG>GTG p.L491V IRAK1_uc004fjr.1_Missense_Mutation_p.L491V|IRAK1_uc004fjt.1_Intron|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Missense_Mutation_p.L517V NM_001569 NP_001560 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 491 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity lung(5)|ovary(2)|breast(1)|central_nervous_system(1) 9 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCAGGCCCAGGCCCAGCTCA 0.692 19 8 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103468777 103468777 + Frame_Shift_Del DEL C - - TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr1:103468777delC uc001dul.2 - 21 2310 c.1992delG c.(1990-1992)GGGfs p.G664fs COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Frame_Shift_Del_p.G676fs|COL11A1_uc001dun.2_Frame_Shift_Del_p.G625fs|COL11A1_uc009weh.2_Frame_Shift_Del_p.G548fs NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 664 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) ATACAGGCTGCCCTGGAGCTC 0.443 28 25 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179669357 179669357 + Frame_Shift_Del DEL C - - TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:179669357delC uc002und.2 - 2 238 c.13delG c.(13-15)GCAfs p.A5fs TTN_uc010zfg.1_Frame_Shift_Del_p.A5fs|TTN_uc010zfh.1_Frame_Shift_Del_p.A5fs|TTN_uc010zfi.1_Frame_Shift_Del_p.A5fs|TTN_uc010zfj.1_Frame_Shift_Del_p.A5fs|TTN_uc002unb.2_Frame_Shift_Del_p.A5fs Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 5 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) AACGTCGGTGCTTGAGTTGTC 0.468 55 57 --- --- --- --- KIAA1486 57624 broad.mit.edu 37 2 226273811 226273818 + Splice_Site DEL TAAAGCGG - - TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr2:226273811_226273818delTAAAGCGG uc002voe.2 + 2 396 c.221_splice c.e2+1 p.R74_splice KIAA1486_uc010fxa.1_Splice_Site_p.R69_splice NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) GAAGAAGCAATAAAGCGGtaaatataaa 0.380 19 11 --- --- --- --- GOLGA3 2802 broad.mit.edu 37 12 133384974 133384974 + Frame_Shift_Del DEL C - - TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr12:133384974delC uc001ukz.1 - 5 1240 c.681delG c.(679-681)GGGfs p.G227fs GOLGA3_uc001ula.1_Frame_Shift_Del_p.G227fs|GOLGA3_uc001ulb.2_Frame_Shift_Del_p.G227fs NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 227 Golgi-targeting domain. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GTGCCGGAAGCCCCAGGCTGC 0.522 238 170 --- --- --- --- RECQL5 9400 broad.mit.edu 37 17 73626918 73626919 + Splice_Site INS - TG TG rs142406301 by1000genomes TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chr17:73626918_73626919insTG uc010dgl.2 - 12 1742 c.1586_splice c.e12-1 p.D529_splice RECQL5_uc010dgk.2_Splice_Site_p.D502_splice|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CAGTTCTCATCTGTGGGGGGGG 0.644 Other_identified_genes_with_known_or_suspected_DNA_repair_function 6 5 --- --- --- --- Unknown 0 broad.mit.edu 37 M 14504 14504 + RNA DEL A - - TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx d63a0a46-7676-40f5-8e03-b8317d243c73 03c66691-71bc-4595-a00b-af12b4a12d93 g.chrM:14504delA uc004cox.3 + 1 c.2168delA uc004coy.2_5'Flank|uc004coz.1_5'Flank Homo sapiens NADH dehydrogenase subunit 5 (MTND5) mRNA, RNA 5, complete cds; mitochondrial gene for mitochondrial product. CTAAATAAATTAAAAAAACTA 0.423 6 7 --- --- --- ---