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 ESPN 83715 broad.mit.edu 37 1 6512048 6512048 + Silent SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:6512048C>T uc001amy.2 + 10 2385 c.2217C>T c.(2215-2217)CTC>CTT p.L739L ESPN_uc001amz.2_Silent_p.L173L NM_031475 NP_113663 B1AK53 ESPN_HUMAN espin 739 sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding 0 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) TGGAGGCTCTCATCCCCACGC 0.657 7 12 --- --- --- --- PASS CLSTN1 22883 broad.mit.edu 37 1 9804684 9804684 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:9804684C>T uc001aqh.2 - 8 1762 c.1003G>A c.(1003-1005)GCC>ACC p.A335T CLSTN1_uc001aqi.2_Missense_Mutation_p.A325T|CLSTN1_uc010oag.1_Missense_Mutation_p.A335T NM_001009566 NP_001009566 O94985 CSTN1_HUMAN calsyntenin 1 isoform 1 335 Extracellular (Potential). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding skin(1) 1 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) AGCAGCTCGGCAGTGCCCGCG 0.637 6 7 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12520422 12520422 + Silent SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:12520422G>A uc001atv.2 + 67 12774 c.12633G>A c.(12631-12633)GTG>GTA p.V4211V VPS13D_uc001atw.2_Silent_p.V4186V|VPS13D_uc001atx.2_Silent_p.V3398V|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Silent_p.V209V NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 4210 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CCCAGGCGGTGAGAGACACAG 0.547 22 40 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12520424 12520424 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:12520424G>A uc001atv.2 + 67 12776 c.12635G>A c.(12634-12636)AGA>AAA p.R4212K VPS13D_uc001atw.2_Missense_Mutation_p.R4187K|VPS13D_uc001atx.2_Missense_Mutation_p.R3399K|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Missense_Mutation_p.R210K NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 4211 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CAGGCGGTGAGAGACACAGCC 0.547 25 40 --- --- --- --- PASS FBXO42 54455 broad.mit.edu 37 1 16577801 16577801 + Silent SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:16577801C>G uc001ayg.2 - 10 1734 c.1518G>C c.(1516-1518)CTG>CTC p.L506L FBXO42_uc001aye.3_Silent_p.L224L|FBXO42_uc001ayf.2_Silent_p.L413L NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN F-box protein 42 506 upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) AAGCGGGTTTCAGATCCCAAT 0.478 82 97 --- --- --- --- PASS LEPRE1 64175 broad.mit.edu 37 1 43213039 43213039 + Silent SNP T A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:43213039T>A uc001chv.2 - 14 2072 c.1959A>T c.(1957-1959)TCA>TCT p.S653S LEPRE1_uc001chw.2_Silent_p.S653S|LEPRE1_uc001chx.3_Silent_p.S653S NM_022356 NP_071751 Q32P28 P3H1_HUMAN leprecan 1 isoform 1 653 Fe2OG dioxygenase. negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity ovary(3)|lung(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TTTCAGTGCCTGAAGAGAATC 0.597 OREG0013422 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 59 --- --- --- --- PASS KANK4 163782 broad.mit.edu 37 1 62739201 62739201 + Silent SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:62739201G>T uc001dah.3 - 3 1952 c.1575C>A c.(1573-1575)GGC>GGA p.G525G KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 525 ovary(3)|skin(2)|lung(1) 6 TTCTGTCGCTGCCCCACAGAA 0.602 52 46 --- --- --- --- PASS LRRC40 55631 broad.mit.edu 37 1 70639152 70639152 + Silent SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:70639152G>T uc001der.1 - 9 1159 c.1107C>A c.(1105-1107)ATC>ATA p.I369I NM_017768 NP_060238 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 369 ovary(1) 1 AAGTACCTTTGATCTTGCTTC 0.313 20 42 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152284369 152284369 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:152284369G>T uc001ezu.1 - 3 3029 c.2993C>A c.(2992-2994)TCT>TAT p.S998Y uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 998 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) GCTGTCTGCAGAGTGCCCGTG 0.562 Ichthyosis 234 470 --- --- --- --- PASS PBXIP1 57326 broad.mit.edu 37 1 154919185 154919185 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:154919185G>A uc001ffr.2 - 10 1024 c.965C>T c.(964-966)GCC>GTC p.A322V PBXIP1_uc001ffs.2_Missense_Mutation_p.A293V|PBXIP1_uc010pep.1_Missense_Mutation_p.A167V NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 322 Potential. cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity large_intestine(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCGCTGGAAGGCTTCGCCCTG 0.662 20 77 --- --- --- --- PASS RXFP4 339403 broad.mit.edu 37 1 155911970 155911970 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:155911970G>C uc010pgs.1 + 1 491 c.470G>C c.(469-471)TGG>TCG p.W157S NM_181885 NP_871001 Q8TDU9 RL3R2_HUMAN relaxin 3 receptor 2 157 Helical; Name=4; (Potential). integral to membrane|plasma membrane angiotensin type II receptor activity 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TCACTCTTCTGGGCCCGAATA 0.652 17 51 --- --- --- --- PASS NES 10763 broad.mit.edu 37 1 156646867 156646867 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:156646867G>C uc001fpq.2 - 1 323 c.190C>G c.(190-192)CGG>GGG p.R64G NM_006617 NP_006608 P48681 NEST_HUMAN nestin 64 Coil 1B.|Rod. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACGAGGGCCCGCAGGGCCGCC 0.721 6 10 --- --- --- --- PASS CD1D 912 broad.mit.edu 37 1 158152847 158152847 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:158152847C>T uc001frr.2 + 5 1286 c.787C>T c.(787-789)CTC>TTC p.L263F CD1D_uc009wss.2_Intron NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 263 Ig-like.|Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) GACATGGTATCTCCGAGCAAC 0.617 47 114 --- --- --- --- PASS IGSF9 57549 broad.mit.edu 37 1 159898366 159898366 + Missense_Mutation SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:159898366C>G uc001fur.2 - 19 3010 c.2812G>C c.(2812-2814)GAT>CAT p.D938H IGSF9_uc001fuq.2_Missense_Mutation_p.D922H|IGSF9_uc001fup.2_Missense_Mutation_p.D84H NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 938 Pro-rich.|Cytoplasmic (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CAGTCCCCATCCACATTCATC 0.637 3 7 --- --- --- --- PASS POU2F1 5451 broad.mit.edu 37 1 167382320 167382320 + Silent SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:167382320A>G uc001gec.2 + 16 2052 c.1890A>G c.(1888-1890)CTA>CTG p.L630L POU2F1_uc001ged.2_Silent_p.L628L|POU2F1_uc001gee.2_Silent_p.L630L|POU2F1_uc010plh.1_Silent_p.L567L|POU2F1_uc001gef.2_Silent_p.L642L|POU2F1_uc001geg.2_Silent_p.L528L NM_002697 NP_002688 P14859 PO2F1_HUMAN POU class 2 homeobox 1 630 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|skin(2)|breast(1) 5 GCCCAGCTCTAATGAGCAACA 0.413 73 157 --- --- --- --- PASS KIFAP3 22920 broad.mit.edu 37 1 169993564 169993564 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:169993564C>T uc001ggv.2 - 9 1286 c.1015G>A c.(1015-1017)GAT>AAT p.D339N KIFAP3_uc010plx.1_Missense_Mutation_p.D41N NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 339 ARM 1. blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GTTACCATATCATTTTTATTC 0.313 4 98 --- --- --- --- PASS ANGPTL1 9068 broad.mit.edu 37 1 178834180 178834180 + Silent SNP A T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:178834180A>T uc001gma.2 - 3 1208 c.732T>A c.(730-732)GGT>GGA p.G244G RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Silent_p.G244G|ANGPTL1_uc010pnc.1_Silent_p.G166G NM_004673 NP_004664 O95841 ANGL1_HUMAN angiopoietin-like 1 precursor 244 extracellular space receptor binding 0 CTCTGGGATAACCTGGATCCC 0.488 63 146 --- --- --- --- PASS LAMC1 3915 broad.mit.edu 37 1 182992985 182992985 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:182992985G>T uc001gpy.3 + 1 391 c.134G>T c.(133-135)GGG>GTG p.G45V LAMC1_uc001gpx.2_Missense_Mutation_p.G45V NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 45 axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GACGAGGGCGGGCGGCCGCAG 0.468 10 26 --- --- --- --- PASS RGL1 23179 broad.mit.edu 37 1 183861272 183861272 + Missense_Mutation SNP A T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:183861272A>T uc001gqo.2 + 9 1274 c.1117A>T c.(1117-1119)ACC>TCC p.T373S RGL1_uc010pof.1_Missense_Mutation_p.T178S|RGL1_uc001gqm.2_Missense_Mutation_p.T408S|RGL1_uc010pog.1_Missense_Mutation_p.T371S|RGL1_uc010poh.1_Missense_Mutation_p.T371S|RGL1_uc010poi.1_Missense_Mutation_p.T373S NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 373 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 TAACCATTTGACCAGCCGAGA 0.413 31 63 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190067631 190067631 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:190067631C>A uc001gse.1 - 8 2050 c.1818G>T c.(1816-1818)CAG>CAT p.Q606H FAM5C_uc010pot.1_Missense_Mutation_p.Q504H NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 606 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) AGTTATAACACTGCAGGGGTA 0.473 167 429 --- --- --- --- PASS DENND1B 163486 broad.mit.edu 37 1 197480035 197480035 + Missense_Mutation SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:197480035T>C uc010ppe.1 - 22 2161 c.1823A>G c.(1822-1824)GAG>GGG p.E608G DENND1B_uc010ppf.1_RNA NM_001142795 NP_001136267 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 1 Error:Variant_position_missing_in_Q6P3S1_after_alignment clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 AAGATTCCACTCTGCTTGGTC 0.448 40 77 --- --- --- --- PASS PRELP 5549 broad.mit.edu 37 1 203455842 203455842 + Missense_Mutation SNP G A A rs147252422 TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:203455842G>A uc001gzs.2 + 3 1182 c.982G>A c.(982-984)GGA>AGA p.G328R PRELP_uc001gzt.2_Missense_Mutation_p.G328R NM_002725 NP_002716 P51888 PRELP_HUMAN proline arginine-rich end leucine-rich repeat 328 LRR 11. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.109) AGAAATCAACGGAACCCAGAT 0.562 21 75 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216219838 216219838 + Missense_Mutation SNP T A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:216219838T>A uc001hku.1 - 32 6647 c.6260A>T c.(6259-6261)CAG>CTG p.Q2087L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2087 Extracellular (Potential).|Fibronectin type-III 7. 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) TAAACAGTACTGAGTTATAAT 0.458 HNSCC(13;0.011) 47 134 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240371017 240371017 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:240371017C>A uc010pyd.1 + 5 3130 c.2905C>A c.(2905-2907)CCT>ACT p.P969T FMN2_uc010pye.1_Missense_Mutation_p.P973T NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 969 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCTTCCTCCCCCTCTTCCCGG 0.711 24 35 --- --- --- --- PASS OR2W5 441932 broad.mit.edu 37 1 247655202 247655202 + Missense_Mutation SNP G T T rs118113848 by1000genomes TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:247655202G>T uc001icz.1 + 1 773 c.773G>T c.(772-774)CGT>CTT p.R258L NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CATCATCTACGTGTACCTGAA 0.532 68 134 --- --- --- --- PASS OR2M7 391196 broad.mit.edu 37 1 248487855 248487855 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:248487855G>C uc010pzk.1 - 1 16 c.16C>G c.(16-18)CAG>GAG p.Q6E NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTGAAGGTCTGATTCTCCCAT 0.443 111 252 --- --- --- --- PASS OR2T10 127069 broad.mit.edu 37 1 248756807 248756807 + Missense_Mutation SNP T A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr1:248756807T>A uc010pzn.1 - 1 263 c.263A>T c.(262-264)AAA>ATA p.K88I NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGTCTTGTCTTTGGCCAGCTG 0.502 33 85 --- --- --- --- PASS TSSC1 7260 broad.mit.edu 37 2 3200790 3200790 + Splice_Site SNP T A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:3200790T>A uc002qxj.2 - 6 710 c.517_splice c.e6-1 p.L173_splice TSSC1_uc002qxi.2_Splice_Site NM_003310 NP_003301 Q53HC9 TSSC1_HUMAN tumor suppressing subtransferable candidate 1 protein binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) GCTGGCCAGCTGGGAGTGTCA 0.368 25 55 --- --- --- --- PASS DNMT3A 1788 broad.mit.edu 37 2 25457255 25457255 + Missense_Mutation SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:25457255A>G uc002rgc.2 - 23 2889 c.2632T>C c.(2632-2634)TCC>CCC p.S878P DNMT3A_uc002rgd.2_Missense_Mutation_p.S878P|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.S689P NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 878 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCATGTTGGAGACGTCAGTA 0.607 Mis|F|N|S AML 31 62 --- --- --- --- PASS C2orf16 84226 broad.mit.edu 37 2 27800362 27800362 + Missense_Mutation SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:27800362C>G uc002rkz.3 + 1 974 c.923C>G c.(922-924)TCC>TGC p.S308C NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 308 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) GCAGAGAGATCCCCAAGGCTC 0.453 48 108 --- --- --- --- PASS XDH 7498 broad.mit.edu 37 2 31637530 31637530 + Missense_Mutation SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:31637530C>G uc002rnv.1 - 1 82 c.3G>C c.(1-3)ATG>ATC p.M1I NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 1 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TGTCTGCTGTCATTGTCACAG 0.502 60 169 --- --- --- --- PASS SOCS5 9655 broad.mit.edu 37 2 46985978 46985978 + Silent SNP C A A rs17853110 TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:46985978C>A uc002rvf.2 + 2 473 c.309C>A c.(307-309)ACC>ACA p.T103T SOCS5_uc010yoe.1_Silent_p.T72T|SOCS5_uc002rvg.2_Silent_p.T103T NM_014011 NP_054730 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 103 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth ovary(1)|lung(1)|central_nervous_system(1) 3 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CTTGTGTTACCCCAGGAACAA 0.418 68 96 --- --- --- --- PASS FOXN2 3344 broad.mit.edu 37 2 48573599 48573599 + Silent SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:48573599T>C uc002rwh.1 + 3 561 c.246T>C c.(244-246)GTT>GTC p.V82V NM_002158 NP_002149 P32314 FOXN2_HUMAN T-cell leukemia virus enhancer factor 82 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|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 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) TTCCAATTGTTAGTCCATTGT 0.443 111 139 --- --- --- --- PASS EHBP1 23301 broad.mit.edu 37 2 63176065 63176065 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:63176065G>T uc002sby.2 + 14 2671 c.2189G>T c.(2188-2190)AGT>ATT p.S730I EHBP1_uc010fcp.2_Missense_Mutation_p.S695I|EHBP1_uc002sbz.2_Missense_Mutation_p.S695I|EHBP1_uc002scb.2_Missense_Mutation_p.S695I NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 730 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) GACATCGGTAGTAACTTGGAG 0.348 Hereditary_Prostate_Cancer 39 142 --- --- --- --- PASS WDR54 84058 broad.mit.edu 37 2 74652601 74652601 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:74652601G>A uc002slb.2 + 9 916 c.856G>A c.(856-858)GAG>AAG p.E286K NM_032118 NP_115494 Q9H977 WDR54_HUMAN WD repeat domain 54 286 WD 4. 0 CAGAAACCCAGAGAGTGGCTA 0.602 107 106 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89459382 89459382 + RNA SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:89459382G>A uc010ytr.1 - 29 c.3812C>T uc002stl.2_Intron Parts of antibodies, mostly variable regions. ACTTGATGAGGAGCTTTGGAG 0.527 45 120 --- --- --- --- PASS UXS1 80146 broad.mit.edu 37 2 106710576 106710576 + Missense_Mutation SNP T A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:106710576T>A uc002tdm.2 - 15 1267 c.1169A>T c.(1168-1170)TAC>TTC p.Y390F UXS1_uc002tdk.2_Missense_Mutation_p.Y188F|UXS1_uc002tdl.2_Missense_Mutation_p.Y222F|UXS1_uc002tdn.2_Missense_Mutation_p.Y395F|UXS1_uc002tdo.2_Missense_Mutation_p.Y333F NM_025076 NP_079352 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 390 Lumenal (Potential). cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity ovary(2) 2 TTTACGGAAGTAGTGAATTGC 0.473 8 99 --- --- --- --- PASS ST6GAL2 84620 broad.mit.edu 37 2 107450571 107450571 + Silent SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:107450571A>G uc002tdq.2 - 3 1094 c.975T>C c.(973-975)TCT>TCC p.S325S ST6GAL2_uc002tdr.2_Silent_p.S325S|ST6GAL2_uc002tds.3_Silent_p.S325S NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 325 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 GTGTAGGAGCAGAGTTAAATC 0.373 10 188 --- --- --- --- PASS PAX8 7849 broad.mit.edu 37 2 113993073 113993073 + Missense_Mutation SNP A T T rs3188996 by1000genomes TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:113993073A>T uc010yxt.1 - 9 1151 c.985T>A c.(985-987)TTT>ATT p.F329I PAX8_uc010yxu.1_Silent_p.P302P|PAX8_uc010yxv.1_Intron|PAX8_uc002tjm.2_Intron|PAX8_uc002tjn.2_Intron|uc002tjp.2_5'Flank|LOC654433_uc002tjq.3_5'Flank|LOC654433_uc010fks.2_5'Flank|LOC654433_uc010fkt.2_5'Flank|LOC654433_uc002tjr.3_5'Flank NM_003466 NP_003457 Q06710 PAX8_HUMAN paired box 8 isoform PAX8A 329 branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity ovary(1)|lung(1) 2 AGATCCAAAAAGGCGGAGCTA 0.612 T PPARG follicular thyroid Thyroid dysgenesis 3 25 --- --- --- --- PASS MYO7B 4648 broad.mit.edu 37 2 128384551 128384551 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:128384551C>A uc002top.2 + 31 4192 c.4139C>A c.(4138-4140)GCC>GAC p.A1380D MYO7B_uc002toq.1_Missense_Mutation_p.A233D|MYO7B_uc002tor.1_Missense_Mutation_p.A233D NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1380 FERM 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CCCCCTCAGGCCCCATACACT 0.597 10 14 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133540268 133540268 + Silent SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:133540268G>A uc002ttp.2 - 14 4490 c.4116C>T c.(4114-4116)ATC>ATT p.I1372I NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1372 protein binding 0 ACTTTGGAGGGATCCTCAAAG 0.627 36 57 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141625807 141625807 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:141625807C>A uc002tvj.1 - 26 5167 c.4195G>T c.(4195-4197)GCA>TCA p.A1399S LRP1B_uc010fnl.1_Missense_Mutation_p.A581S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1399 Extracellular (Potential).|LDL-receptor class B 11. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGAAAATTTGCATCCCAGTCT 0.294 TSP Lung(27;0.18) 6 108 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162719517 162719517 + Silent SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:162719517T>C uc002ubx.3 + 6 895 c.711T>C c.(709-711)CGT>CGC p.R237R SLC4A10_uc010fpa.1_Silent_p.R249R|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Silent_p.R237R|SLC4A10_uc010zcs.1_Silent_p.R248R NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 237 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 CCATTGTTCGTTCCTTTGCTG 0.383 28 42 --- --- --- --- PASS KBTBD10 10324 broad.mit.edu 37 2 170366566 170366566 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:170366566C>T uc002ueu.1 + 1 355 c.278C>T c.(277-279)TCT>TTT p.S93F KBTBD10_uc010zdh.1_Intron NM_006063 NP_006054 O60662 KBTBA_HUMAN kelch repeat and BTB (POZ) domain containing 10 93 BTB. striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle 0 TACCTGTACTCTGCCAGTATT 0.393 8 258 --- --- --- --- PASS KLHL23 151230 broad.mit.edu 37 2 170592599 170592599 + Missense_Mutation SNP A T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:170592599A>T uc002ufh.1 + 4 1413 c.1075A>T c.(1075-1077)AGG>TGG p.R359W KLHL23_uc002ufi.1_Missense_Mutation_p.R359W NM_144711 NP_653312 Q8NBE8 KLH23_HUMAN kelch-like 23 359 Kelch 2. 0 GCTCAATGCCAGGTATTACCA 0.473 115 173 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098959 178098959 + Missense_Mutation SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:178098959T>C uc002ulh.3 - 2 641 c.86A>G c.(85-87)GAT>GGT p.D29G NFE2L2_uc002ulg.3_Missense_Mutation_p.D13G|NFE2L2_uc010zfa.1_Missense_Mutation_p.D13G|NFE2L2_uc002uli.3_Missense_Mutation_p.D13G|NFE2L2_uc010fra.2_Missense_Mutation_p.D13G|NFE2L2_uc010frb.2_Missense_Mutation_p.D13G NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 29 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TACTCCAAGATCTATATCTTG 0.368 Mis NSCLC|HNSCC HNSCC(56;0.16) 28 84 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179400809 179400809 + Silent SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:179400809G>T uc010zfg.1 - 306 93185 c.92961C>A c.(92959-92961)CTC>CTA p.L30987L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L24682L|TTN_uc010zfi.1_Silent_p.L24615L|TTN_uc010zfj.1_Silent_p.L24490L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31914 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) TTGCAATGATGAGCTGGTGGT 0.443 57 96 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179414546 179414546 + Nonsense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:179414546C>A uc010zfg.1 - 287 84423 c.84199G>T c.(84199-84201)GAG>TAG p.E28067* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E21762*|TTN_uc010zfi.1_Nonsense_Mutation_p.E21695*|TTN_uc010zfj.1_Nonsense_Mutation_p.E21570* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28994 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) GTCATCTTCTCCCCAGTAATA 0.428 65 168 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179428441 179428441 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:179428441G>C uc010zfg.1 - 275 74938 c.74714C>G c.(74713-74715)CCC>CGC p.P24905R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P18600R|TTN_uc010zfi.1_Missense_Mutation_p.P18533R|TTN_uc010zfj.1_Missense_Mutation_p.P18408R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25832 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) AGGTGTTGAGGGAGGACCTGG 0.478 10 286 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179441390 179441390 + Missense_Mutation SNP A T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:179441390A>T uc010zfg.1 - 274 62101 c.61877T>A c.(61876-61878)GTT>GAT p.V20626D uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V14321D|TTN_uc010zfi.1_Missense_Mutation_p.V14254D|TTN_uc010zfj.1_Missense_Mutation_p.V14129D|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21553 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) GAGATCGGAAACTGGTGTTTT 0.468 162 386 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179463280 179463280 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:179463280C>T uc010zfg.1 - 241 49584 c.49360G>A c.(49360-49362)GGA>AGA p.G16454R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G10149R|TTN_uc010zfi.1_Missense_Mutation_p.G10082R|TTN_uc010zfj.1_Missense_Mutation_p.G9957R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17381 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) ACGATGTATCCAGTTACTTTG 0.403 28 70 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179468995 179468995 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:179468995C>T uc010zfg.1 - 231 46939 c.46715G>A c.(46714-46716)CGA>CAA p.R15572Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9267Q|TTN_uc010zfi.1_Missense_Mutation_p.R9200Q|TTN_uc010zfj.1_Missense_Mutation_p.R9075Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16499 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) TGCCCTGACTCGGAACTCATA 0.368 33 72 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179582750 179582750 + Missense_Mutation SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:179582750T>C uc010zfg.1 - 83 21475 c.21251A>G c.(21250-21252)CAC>CGC p.H7084R TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.H3745R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8011 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.M7084I(1) ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACATCACTGTGATCCACTTT 0.408 90 189 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179610863 179610863 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:179610863G>T uc002unb.2 - 46 16488 c.16264C>A c.(16264-16266)CCA>ACA p.P5422T 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 8930 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) ATATTATCTGGCTCAATACAC 0.368 78 216 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179664562 179664562 + Missense_Mutation SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:179664562C>G uc002und.2 - 5 884 c.659G>C c.(658-660)CGA>CCA p.R220P TTN_uc010zfg.1_Missense_Mutation_p.R220P|TTN_uc010zfh.1_Missense_Mutation_p.R220P|TTN_uc010zfi.1_Missense_Mutation_p.R220P|TTN_uc010zfj.1_Missense_Mutation_p.R220P|TTN_uc002unb.2_Missense_Mutation_p.R220P Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 220 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) CTTTTCAATTCGGGTTTGTCT 0.403 48 128 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185801730 185801730 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:185801730G>A uc002uph.2 + 4 2201 c.1607G>A c.(1606-1608)TGT>TAT p.C536Y NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 536 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TCCAGTAGTTGTGATTCTGGA 0.333 28 101 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185802102 185802102 + Missense_Mutation SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:185802102C>G uc002uph.2 + 4 2573 c.1979C>G c.(1978-1980)CCC>CGC p.P660R NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 660 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GATAAAAGGCCCAAATCAGAA 0.333 69 143 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196651817 196651817 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:196651817C>A uc002utj.3 - 58 10896 c.10795G>T c.(10795-10797)GGG>TGG p.G3599W DNAH7_uc002uti.3_Missense_Mutation_p.G82W NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3599 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ATATTCCACCCTAGGGGTCCA 0.403 88 144 --- --- --- --- PASS BMPR2 659 broad.mit.edu 37 2 203379617 203379617 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:203379617G>A uc002uzf.3 + 5 1684 c.536G>A c.(535-537)CGT>CAT p.R179H BMPR2_uc010ftr.2_Missense_Mutation_p.R179H NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 179 Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity p.R179H(1) ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 ATAGGAGACCGTAAACAAGGT 0.348 58 124 --- --- --- --- PASS COL4A3 1285 broad.mit.edu 37 2 228137730 228137730 + Silent SNP A T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:228137730A>T uc002vom.1 + 26 1986 c.1824A>T c.(1822-1824)GGA>GGT p.G608G COL4A3_uc002von.1_Silent_p.G608G|COL4A3_uc002voo.1_Silent_p.G608G|COL4A3_uc002vop.1_Silent_p.G608G|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 608 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) GGTCCCCAGGACCTGCAGGAC 0.622 33 103 --- --- --- --- PASS TRIP12 9320 broad.mit.edu 37 2 230650556 230650556 + Missense_Mutation SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:230650556C>G uc002vpw.1 - 33 4895 c.4786G>C c.(4786-4788)GAG>CAG p.E1596Q TRIP12_uc002vpx.1_Missense_Mutation_p.E1644Q|TRIP12_uc002vpy.1_Missense_Mutation_p.E1326Q NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1596 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) AGCAGCTCCTCTCGGTTCACA 0.458 53 105 --- --- --- --- PASS CNTN4 152330 broad.mit.edu 37 3 2908505 2908505 + Missense_Mutation SNP A T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:2908505A>T uc003bpc.2 + 7 745 c.524A>T c.(523-525)GAG>GTG p.E175V CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.E175V NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 175 Ig-like C2-type 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GTTTCTCAAGAGACTGGGAAT 0.403 112 127 --- --- --- --- PASS TRANK1 9881 broad.mit.edu 37 3 36898648 36898648 + Silent SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:36898648G>A uc003cgj.2 - 3 1085 c.783C>T c.(781-783)ATC>ATT p.I261I NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 811 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TTTTCTTCTTGATGACCTTGG 0.507 139 145 --- --- --- --- PASS PLCD1 5333 broad.mit.edu 37 3 38053094 38053094 + Missense_Mutation SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:38053094T>C uc003chn.2 - 4 623 c.499A>G c.(499-501)AAC>GAC p.N167D PLCD1_uc003chm.2_Missense_Mutation_p.N188D NM_006225 NP_006216 P51178 PLCD1_HUMAN phospholipase C, delta 1 isoform 2 167 EF-hand 1. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) TTCAGGAAGTTCTGCAGCTCC 0.542 12 45 --- --- --- --- PASS MYRIP 25924 broad.mit.edu 37 3 40285962 40285962 + Missense_Mutation SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:40285962A>G uc003cka.2 + 13 2261 c.2126A>G c.(2125-2127)TAT>TGT p.Y709C MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.Y644C|MYRIP_uc010hhw.2_Missense_Mutation_p.Y620C|MYRIP_uc011ayz.1_Missense_Mutation_p.Y522C|uc003ckb.2_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 709 Actin-binding. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) GGCACTGTGTATGGACTGGAG 0.582 46 34 --- --- --- --- PASS HYAL3 8372 broad.mit.edu 37 3 50332669 50332669 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:50332669C>A uc003czd.1 - 2 638 c.365G>T c.(364-366)GGC>GTC p.G122V HYAL3_uc003czc.1_Missense_Mutation_p.G122V|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Missense_Mutation_p.G122V NM_003549 NP_003540 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 precursor 122 carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CACTGCTGGGCCAGCAAAGCC 0.647 70 77 --- --- --- --- PASS DPPA2 151871 broad.mit.edu 37 3 109026913 109026913 + Silent SNP A C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:109026913A>C uc003dxo.2 - 6 871 c.624T>G c.(622-624)CCT>CCG p.P208P NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 208 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 CAACAGAAACAGGAATGGAAC 0.448 66 81 --- --- --- --- PASS DPPA2 151871 broad.mit.edu 37 3 109028125 109028125 + Nonsense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:109028125G>T uc003dxo.2 - 4 481 c.234C>A c.(232-234)TGC>TGA p.C78* NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 78 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 CTGGTATTTTGCATCTAGCTT 0.418 81 247 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121415351 121415351 + Missense_Mutation SNP T A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:121415351T>A uc003eei.3 - 13 4130 c.4004A>T c.(4003-4005)AAA>ATA p.K1335I GOLGB1_uc010hrc.2_Missense_Mutation_p.K1340I|GOLGB1_uc003eej.3_Missense_Mutation_p.K1301I|GOLGB1_uc011bjm.1_Missense_Mutation_p.K1221I|GOLGB1_uc010hrd.1_Missense_Mutation_p.K1299I NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1335 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) CTCTTCTGATTTTTTAGTAAG 0.388 223 314 --- --- --- --- PASS IQCB1 9657 broad.mit.edu 37 3 121515990 121515990 + Missense_Mutation SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:121515990A>G uc010hre.1 - 9 1066 c.851T>C c.(850-852)ATG>ACG p.M284T IQCB1_uc003eek.2_Intron|IQCB1_uc010hrf.1_RNA NM_001023570 NP_001018864 Q15051 IQCB1_HUMAN IQ motif containing B1 isoform a 284 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding 0 GBM - Glioblastoma multiforme(114;0.0983) CTGATAGACCATTGGGCTTAA 0.358 140 250 --- --- --- --- PASS PDIA5 10954 broad.mit.edu 37 3 122880801 122880801 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:122880801G>T uc003egc.1 + 17 1610 c.1554G>T c.(1552-1554)GAG>GAT p.E518D PDIA5_uc003egd.1_RNA NM_006810 NP_006801 Q14554 PDIA5_HUMAN protein disulfide isomerase A5 precursor 518 Prevents secretion from ER (Potential). cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.0427) AGAAGGAAGAGTTATAATTCC 0.398 26 181 --- --- --- --- PASS UROC1 131669 broad.mit.edu 37 3 126236546 126236546 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:126236546G>T uc003eiz.1 - 1 49 c.17C>A c.(16-18)GCG>GAG p.A6E UROC1_uc010hsi.1_Missense_Mutation_p.A6E NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 6 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) AGAGCACAGCGCCTGGAGGCT 0.682 4 18 --- --- --- --- PASS TMCC1 23023 broad.mit.edu 37 3 129547191 129547191 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:129547191C>T uc003emz.3 - 4 532 c.31G>A c.(31-33)GAG>AAG p.E11K TMCC1_uc010htg.2_Intron NM_001017395 NP_001017395 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 11 integral to membrane skin(1) 1 TCAGGGTCCTCAAATAACTGT 0.398 85 362 --- --- --- --- PASS DNAJC13 23317 broad.mit.edu 37 3 132211375 132211375 + Silent SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:132211375C>T uc003eor.2 + 33 3806 c.3741C>T c.(3739-3741)CTC>CTT p.L1247L NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1247 heat shock protein binding ovary(1)|breast(1) 2 ATCCACAACTCGAAAATGAAC 0.403 231 515 --- --- --- --- PASS BFSP2 8419 broad.mit.edu 37 3 133119036 133119036 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:133119036G>A uc003epn.1 + 1 247 c.109G>A c.(109-111)GAG>AAG p.E37K NM_003571 NP_003562 Q13515 BFSP2_HUMAN phakinin 37 Head. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens 0 ATCCTCCCTGGAGAGCCCCCC 0.652 29 161 --- --- --- --- PASS DBR1 51163 broad.mit.edu 37 3 137892435 137892435 + Silent SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:137892435G>A uc003erv.2 - 2 367 c.231C>T c.(229-231)CTC>CTT p.L77L DBR1_uc003eru.2_Silent_p.L26L NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 77 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 TGAAGAGCGTGAGAACTGGAG 0.408 122 446 --- --- --- --- PASS TXNDC6 347736 broad.mit.edu 37 3 138023787 138023787 + Missense_Mutation SNP T A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:138023787T>A uc003esg.2 - 9 747 c.719A>T c.(718-720)GAC>GTC p.D240V TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Missense_Mutation_p.D155V|TXNDC6_uc003ese.1_Missense_Mutation_p.D179V NM_178130 NP_835231 Q86XW9 TXND6_HUMAN thioredoxin domain containing 6 240 NDK. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity breast(3)|ovary(1)|pancreas(1) 5 AGTGACCACGTCCTCGAAGCC 0.587 166 316 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155206555 155206555 + Silent SNP T A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:155206555T>A uc011bok.1 - 19 2674 c.2397A>T c.(2395-2397)GTA>GTT p.V799V PLCH1_uc011boj.1_Silent_p.V799V|PLCH1_uc011bol.1_Silent_p.V781V NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 799 C2. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CTGGCATGTGTACTGTAAATG 0.428 30 147 --- --- --- --- PASS VEPH1 79674 broad.mit.edu 37 3 157081367 157081367 + Silent SNP T A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:157081367T>A uc003fbj.1 - 9 1838 c.1521A>T c.(1519-1521)TCA>TCT p.S507S VEPH1_uc003fbk.1_Silent_p.S507S|VEPH1_uc010hvu.1_Silent_p.S507S NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 507 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) GGTATGAAACTGAAGACTCCC 0.428 99 553 --- --- --- --- PASS WDR49 151790 broad.mit.edu 37 3 167293742 167293742 + Silent SNP T A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:167293742T>A uc003fev.1 - 4 756 c.450A>T c.(448-450)GCA>GCT p.A150A WDR49_uc003feu.1_5'Flank|WDR49_uc011bpd.1_Silent_p.A203A|WDR49_uc003few.1_Silent_p.A491A NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 150 WD 3. large_intestine(1)|ovary(1)|skin(1) 3 CACAAGTGACTGCTTTCTCAT 0.403 203 346 --- --- --- --- PASS PRKCI 5584 broad.mit.edu 37 3 170009717 170009717 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:170009717G>A uc003fgs.2 + 13 1517 c.1279G>A c.(1279-1281)GGA>AGA p.G427R PRKCI_uc003fgt.2_5'UTR NM_002740 NP_002731 P41743 KPCI_HUMAN protein kinase C, iota 427 Protein kinase. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) AATTTTAAGAGGAGAAGATTA 0.343 65 117 --- --- --- --- PASS CLCN2 1181 broad.mit.edu 37 3 184075201 184075201 + Missense_Mutation SNP T A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:184075201T>A uc003foi.2 - 8 971 c.847A>T c.(847-849)ACC>TCC p.T283S CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.T283S|CLCN2_uc011brl.1_Missense_Mutation_p.T283S|CLCN2_uc011brm.1_Missense_Mutation_p.T239S|CLCN2_uc011brn.1_Missense_Mutation_p.T283S NM_004366 NP_004357 P51788 CLCN2_HUMAN chloride channel 2 283 Helical; (By similarity). chloride channel complex voltage-gated chloride channel activity 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GCACTGAAGGTGGCAGCGAAG 0.627 48 201 --- --- --- --- PASS KNG1 3827 broad.mit.edu 37 3 186459738 186459738 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:186459738G>T uc011bsa.1 + 10 1765 c.1553G>T c.(1552-1554)GGT>GTT p.G518V KNG1_uc003fqr.2_Intron NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 518 blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) AAGCACAATGGTTGGAAAACA 0.463 29 113 --- --- --- --- PASS OPA1 4976 broad.mit.edu 37 3 193333491 193333491 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:193333491C>T uc003ftm.2 + 3 614 c.380C>T c.(379-381)CCG>CTG p.P127L OPA1_uc003ftg.2_Missense_Mutation_p.P127L|OPA1_uc003fth.2_Missense_Mutation_p.P127L|OPA1_uc003fti.2_Missense_Mutation_p.P127L|OPA1_uc003ftj.2_Missense_Mutation_p.P127L|OPA1_uc003ftk.2_Missense_Mutation_p.P127L|OPA1_uc003ftl.2_Missense_Mutation_p.P127L|OPA1_uc003ftn.2_Missense_Mutation_p.P127L NM_015560 NP_056375 O60313 OPA1_HUMAN optic atrophy 1 isoform 1 127 Mitochondrial intermembrane (By similarity). apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding 0 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) GATATGATACCGGACCTTAGT 0.308 104 591 --- --- --- --- PASS LRRC33 375387 broad.mit.edu 37 3 196387697 196387697 + Missense_Mutation SNP C G G rs150316796 TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr3:196387697C>G uc003fwv.2 + 3 1287 c.1183C>G c.(1183-1185)CCG>GCG p.P395A NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 395 Extracellular (Potential).|LRR 13. integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-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;0.00326) GCACCTGGCTCCGGGGCTGGC 0.652 34 116 --- --- --- --- PASS ACOX3 8310 broad.mit.edu 37 4 8372694 8372694 + Missense_Mutation SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr4:8372694C>G uc010idk.2 - 17 2069 c.1924G>C c.(1924-1926)GAC>CAC p.D642H ACOX3_uc003glc.3_Missense_Mutation_p.D642H|ACOX3_uc003gld.3_Missense_Mutation_p.R619T NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 642 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 GCGATCACGTCTACCAGGGCA 0.572 31 58 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62453084 62453084 + Silent SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr4:62453084T>C uc010ihh.2 + 2 368 c.195T>C c.(193-195)ATT>ATC p.I65I LPHN3_uc003hcq.3_Silent_p.I65I|LPHN3_uc010ihg.1_Silent_p.I133I NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 65 SUEL-type lectin.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 ATGACAAAATTTGTGACTCTG 0.418 27 46 --- --- --- --- PASS EGF 1950 broad.mit.edu 37 4 110897250 110897250 + Missense_Mutation SNP A T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr4:110897250A>T uc003hzy.3 + 13 2364 c.1912A>T c.(1912-1914)AGC>TGC p.S638C EGF_uc011cfu.1_Missense_Mutation_p.S596C|EGF_uc011cfv.1_Missense_Mutation_p.S638C NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 638 Extracellular (Potential).|LDL-receptor class B 8. angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GGTTATAGCCAGCTCTGATCT 0.443 110 135 --- --- --- --- PASS GALNTL6 442117 broad.mit.edu 37 4 173730674 173730674 + Missense_Mutation SNP T A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr4:173730674T>A uc003isv.2 + 6 1452 c.716T>A c.(715-717)GTG>GAG p.V239E NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 239 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 GAGGTCAATGTGAACTGGCTG 0.542 28 34 --- --- --- --- PASS CEP72 55722 broad.mit.edu 37 5 635485 635485 + Splice_Site SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr5:635485A>G uc003jbf.2 + 6 764 c.692_splice c.e6-2 p.E231_splice CEP72_uc011clz.1_Splice_Site NM_018140 NP_060610 Q9P209 CEP72_HUMAN centrosomal protein 72 kDa G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol ovary(1) 1 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) ATATTTTAATAGAATCCAGAC 0.393 13 26 --- --- --- --- PASS NUP155 9631 broad.mit.edu 37 5 37307492 37307492 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr5:37307492G>A uc003jku.1 - 25 2928 c.2810C>T c.(2809-2811)GCA>GTA p.A937V NUP155_uc003jkt.1_Missense_Mutation_p.A878V|NUP155_uc010iuz.1_Missense_Mutation_p.A873V NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 937 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTTTTTCTCTGCAGCCGTAAG 0.398 47 95 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41160404 41160404 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr5:41160404C>A uc003jmk.2 - 11 1734 c.1524G>T c.(1522-1524)AGG>AGT p.R508S C6_uc003jml.1_Missense_Mutation_p.R508S NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 508 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GCAAAGCTTTCCTGAGGTTGT 0.522 53 128 --- --- --- --- PASS ZNF131 7690 broad.mit.edu 37 5 43175067 43175067 + Silent SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr5:43175067C>A uc011cpw.1 + 7 1740 c.1704C>A c.(1702-1704)ACC>ACA p.T568T ZNF131_uc003jnj.3_Silent_p.T289T|ZNF131_uc003jnk.2_Silent_p.T534T|ZNF131_uc003jnn.3_Silent_p.T289T|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron NM_003432 NP_003423 P52739 ZN131_HUMAN zinc finger protein 131 568 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ACCACGTGACCCCAGAAATCA 0.483 30 91 --- --- --- --- PASS MAN2A1 4124 broad.mit.edu 37 5 109106207 109106207 + Silent SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr5:109106207C>T uc003kou.1 + 7 2124 c.1161C>T c.(1159-1161)CCC>CCT p.P387P NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 387 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) GGGGAGTCCCCCCAGAAACAA 0.433 58 80 --- --- --- --- PASS CXCL14 9547 broad.mit.edu 37 5 134910301 134910301 + Missense_Mutation SNP C T T rs139612389 TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr5:134910301C>T uc003lay.2 - 3 746 c.281G>A c.(280-282)CGC>CAC p.R94H NM_004887 NP_004878 O95715 CXL14_HUMAN small inducible cytokine B14 precursor 94 cell-cell signaling|chemotaxis|immune response|signal transduction extracellular space|Golgi apparatus chemokine activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTTGATGAAGCGCTTGGTGCT 0.572 26 45 --- --- --- --- PASS PCDHGA8 9708 broad.mit.edu 37 5 140774454 140774454 + Missense_Mutation SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr5:140774454T>C uc003lkd.1 + 1 2972 c.2074T>C c.(2074-2076)TAT>CAT p.Y692H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.Y692H NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 692 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTTACACTCTATCTCGTGGT 0.612 9 13 --- --- --- --- PASS PRELID2 153768 broad.mit.edu 37 5 145199571 145199571 + Silent SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr5:145199571T>C uc003lnp.1 - 3 197 c.144A>G c.(142-144)ACA>ACG p.T48T PRELID2_uc003lnq.1_Silent_p.T48T|PRELID2_uc003lno.1_Silent_p.T19T|PRELID2_uc003lnr.1_Silent_p.T48T NM_182960 NP_892005 Q8N945 PRLD2_HUMAN PRELI domain containing 2 isoform a 48 PRELI/MSF1. 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGATGACCCCTGTTGATTCAT 0.313 93 100 --- --- --- --- PASS SH3RF2 153769 broad.mit.edu 37 5 145439657 145439657 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr5:145439657C>T uc003lnt.2 + 9 2022 c.1784C>T c.(1783-1785)TCC>TTC p.S595F SH3RF2_uc011dbl.1_Missense_Mutation_p.S595F|SH3RF2_uc011dbm.1_Missense_Mutation_p.S80F|SH3RF2_uc003lnu.2_Missense_Mutation_p.S86F|SH3RF2_uc011dbn.1_Missense_Mutation_p.S86F|SH3RF2_uc011dbo.1_Missense_Mutation_p.S52F NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 595 ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGATCCACTCCGCGGCCAGC 0.627 31 30 --- --- --- --- PASS GPR151 134391 broad.mit.edu 37 5 145895656 145895656 + Silent SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr5:145895656T>C uc003lod.1 - 1 21 c.21A>G c.(19-21)GCA>GCG p.A7A NM_194251 NP_919227 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 7 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGTTAGAGTCTGCAAAGGCAG 0.488 60 70 --- --- --- --- PASS C5orf41 153222 broad.mit.edu 37 5 172539351 172539351 + Missense_Mutation SNP A T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr5:172539351A>T uc003mch.2 + 7 1954 c.1650A>T c.(1648-1650)AAA>AAT p.K550N C5orf41_uc011dfd.1_Missense_Mutation_p.K550N NM_153607 NP_705835 Q8IUR6 CE041_HUMAN luman-recruiting factor 550 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AAGCTAATAAAGTGAAATTAT 0.338 42 84 --- --- --- --- PASS GRM6 2916 broad.mit.edu 37 5 178418943 178418943 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr5:178418943C>A uc003mjr.2 - 2 825 c.646G>T c.(646-648)GTG>TTG p.V216L GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 216 Extracellular (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) AGCGTGGACACATAGTTCCAT 0.627 21 25 --- --- --- --- PASS RASGEF1C 255426 broad.mit.edu 37 5 179554659 179554659 + Missense_Mutation SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr5:179554659C>G uc003mlq.2 - 5 961 c.664G>C c.(664-666)GAG>CAG p.E222Q RASGEF1C_uc003mlr.2_Missense_Mutation_p.E222Q|RASGEF1C_uc003mlp.3_Missense_Mutation_p.E71Q NM_175062 NP_778232 Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 222 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACAAACTCCTCAGGCCCGATG 0.612 13 16 --- --- --- --- PASS TAPBP 6892 broad.mit.edu 37 6 33281012 33281012 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr6:33281012G>C uc003odx.1 - 3 622 c.451C>G c.(451-453)CTC>GTC p.L151V TAPBP_uc010jus.1_Missense_Mutation_p.L151V|TAPBP_uc003ody.2_Missense_Mutation_p.L151V|TAPBP_uc003odz.2_Missense_Mutation_p.L151V|TAPBP_uc010jut.1_Intron|TAPBP_uc011drc.1_Missense_Mutation_p.L151V NM_003190 NP_003181 O15533 TPSN_HUMAN tapasin isoform 1 precursor 151 Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding ovary(1) 1 ATGGTGATGAGAACAGGCTCC 0.473 34 74 --- --- --- --- PASS SPDEF 25803 broad.mit.edu 37 6 34508830 34508830 + Nonsense_Mutation SNP C A A rs138933709 TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr6:34508830C>A uc003ojq.1 - 3 980 c.565G>T c.(565-567)GAG>TAG p.E189* SPDEF_uc011dsq.1_Nonsense_Mutation_p.E189* NM_012391 NP_036523 O95238 SPDEF_HUMAN SAM pointed domain containing ets transcription 189 PNT. negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(3)|ovary(1)|central_nervous_system(1) 5 CGGAACTGCTCCTCCGACATG 0.662 13 9 --- --- --- --- PASS SLC22A7 10864 broad.mit.edu 37 6 43267162 43267162 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr6:43267162G>C uc003out.2 + 3 533 c.434G>C c.(433-435)AGA>ACA p.R145T SLC22A7_uc010jyl.1_Missense_Mutation_p.R143T|SLC22A7_uc003ous.2_Missense_Mutation_p.R143T NM_153320 NP_696961 Q9Y694 S22A7_HUMAN solute carrier family 22 member 7 isoform b 145 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity 0 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GGTCTGAACAGAGCTGCGTCC 0.572 28 51 --- --- --- --- PASS LGSN 51557 broad.mit.edu 37 6 63990303 63990303 + Missense_Mutation SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr6:63990303C>G uc003peh.2 - 4 1187 c.1153G>C c.(1153-1155)GGA>CGA p.G385R LGSN_uc003pei.2_3'UTR NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 385 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) TCATTGTATCCCCATGTTGTA 0.463 103 178 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70852701 70852701 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr6:70852701C>A uc003pfc.1 + 23 1732 c.1615C>A c.(1615-1617)CCA>ACA p.P539T COL19A1_uc010kam.1_Missense_Mutation_p.P435T NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 539 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 CAGAGGACCGCCAGGAGATGT 0.358 56 50 --- --- --- --- PASS EPHA7 2045 broad.mit.edu 37 6 93967179 93967179 + Splice_Site SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr6:93967179C>A uc003poe.2 - 12 2413 c.2172_splice c.e12+1 p.R724_splice EPHA7_uc003pof.2_Splice_Site_p.R719_splice|EPHA7_uc011eac.1_Splice_Site_p.R720_splice NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TTGGTACTTACCCTGAGAAAT 0.318 35 45 --- --- --- --- PASS FNDC1 84624 broad.mit.edu 37 6 159653353 159653353 + Silent SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr6:159653353C>T uc010kjv.2 + 11 2009 c.1809C>T c.(1807-1809)TCC>TCT p.S603S FNDC1_uc010kjw.1_Silent_p.S488S NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 603 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) CTGGCTTTTCCCTGGCCACGC 0.701 15 13 --- --- --- --- PASS SLC22A2 6582 broad.mit.edu 37 6 160679418 160679418 + Silent SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr6:160679418G>A uc003qtf.2 - 1 542 c.372C>T c.(370-372)GAC>GAT p.D124D SLC22A2_uc003qte.1_Silent_p.D124D|SLC22A2_uc003qth.1_Silent_p.D124D NM_003058 NP_003049 O15244 S22A2_HUMAN solute carrier family 22 member 2 124 Extracellular (Potential). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(1)|skin(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) ACACCCAGCCGTCCCGGCAGG 0.627 39 71 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169648567 169648567 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr6:169648567G>T uc003qwt.2 - 4 802 c.554C>A c.(553-555)GCG>GAG p.A185E NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 185 TSP N-terminal.|Heparin-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GCTCTTTTCCGCCTGCAGGTG 0.617 88 90 --- --- --- --- PASS DLL1 28514 broad.mit.edu 37 6 170597490 170597490 + Silent SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr6:170597490C>T uc003qxm.2 - 4 977 c.507G>A c.(505-507)ACG>ACA p.T169T DLL1_uc011ehc.1_Silent_p.T169T NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 169 Extracellular (Potential). cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) ACTTGAGGTCCGTGCGGCCGC 0.627 31 36 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18767272 18767272 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:18767272G>C uc003suh.2 + 12 1833 c.1792G>C c.(1792-1794)GAT>CAT p.D598H HDAC9_uc003sue.2_Missense_Mutation_p.D598H|HDAC9_uc011jyd.1_Missense_Mutation_p.D598H|HDAC9_uc003sui.2_Missense_Mutation_p.D601H|HDAC9_uc003suj.2_Missense_Mutation_p.D557H|HDAC9_uc003sua.1_Missense_Mutation_p.D576H|HDAC9_uc010kue.1_Missense_Mutation_p.D253H NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 598 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) GGTTGGCATGGATGGATTAGA 0.582 9 27 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21747435 21747435 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:21747435G>C uc003svc.2 + 41 6717 c.6686G>C c.(6685-6687)CGA>CCA p.R2229P NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2229 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CATGCTACCCGAGAATGGAAA 0.373 Kartagener_syndrome 18 75 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21747436 21747436 + Silent SNP A T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:21747436A>T uc003svc.2 + 41 6718 c.6687A>T c.(6685-6687)CGA>CGT p.R2229R NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2229 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 ATGCTACCCGAGAATGGAAAG 0.373 Kartagener_syndrome 18 74 --- --- --- --- PASS KLHL7 55975 broad.mit.edu 37 7 23205516 23205516 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:23205516C>T uc003svs.3 + 8 1429 c.1136C>T c.(1135-1137)GCT>GTT p.A379V KLHL7_uc003svr.3_Missense_Mutation_p.A357V|KLHL7_uc011jys.1_Missense_Mutation_p.A303V|KLHL7_uc011jyt.1_Missense_Mutation_p.A154V|KLHL7_uc003svt.2_Missense_Mutation_p.A331V|KLHL7_uc011jyv.1_Missense_Mutation_p.A154V NM_001031710 NP_001026880 Q8IXQ5 KLHL7_HUMAN kelch-like 7 isoform 1 379 Kelch 2. Golgi apparatus|nucleolus|plasma membrane 0 GCTGCATGTGCTGCAGAAGGC 0.438 90 112 --- --- --- --- PASS CCM2 83605 broad.mit.edu 37 7 45113885 45113885 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:45113885C>T uc003tmo.2 + 9 1078 c.932C>T c.(931-933)TCA>TTA p.S311L CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.S253L|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.S220L|CCM2_uc003tms.2_Missense_Mutation_p.S332L NM_031443 NP_113631 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 isoform 2 311 endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding 0 ACCAAGCTGTCATCACAGGAG 0.607 Familial_Cerebral_Cavernous_Angioma 29 53 --- --- --- --- PASS DDC 1644 broad.mit.edu 37 7 50530953 50530953 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:50530953G>T uc003tpf.3 - 14 1505 c.1419C>A c.(1417-1419)GAC>GAA p.D473E DDC_uc010kza.2_Missense_Mutation_p.D388E|DDC_uc003tpg.3_Missense_Mutation_p.D473E NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 473 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CTCGCAGCACGTCGGCCGCCA 0.597 12 22 --- --- --- --- PASS SEC61G 23480 broad.mit.edu 37 7 54823501 54823501 + Missense_Mutation SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:54823501C>G uc003tqf.2 - 3 259 c.168G>C c.(166-168)TTG>TTC p.L56F SEC61G_uc003tqg.2_Missense_Mutation_p.L56F NM_001012456 NP_001012474 P60059 SC61G_HUMAN Sec61 gamma subunit 56 Helical; (Potential). protein targeting to ER endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity lung(1) 1 Esophageal squamous(2;7.55e-08)|Breast(14;0.0654) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164) GAATATGGATCAATTTCACAA 0.323 5 178 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88964016 88964016 + Nonsense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:88964016G>T uc011khi.1 + 4 2258 c.1720G>T c.(1720-1722)GAA>TAA p.E574* NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 574 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AAATGATTTGGAAATGAAAAA 0.353 HNSCC(36;0.09) 41 112 --- --- --- --- PASS CALCR 799 broad.mit.edu 37 7 93106944 93106944 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:93106944C>T uc003umv.1 - 5 557 c.296G>A c.(295-297)TGC>TAC p.C99Y CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.C81Y|CALCR_uc003umw.2_Missense_Mutation_p.C81Y NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 81 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GTCATCCCAGCACAGCCATCC 0.413 26 64 --- --- --- --- PASS EPO 2056 broad.mit.edu 37 7 100319236 100319236 + Silent SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:100319236C>G uc003uwi.2 + 2 250 c.69C>G c.(67-69)CTC>CTG p.L23L EPO_uc011kkc.1_Silent_p.L23L NM_000799 NP_000790 P01588 EPO_HUMAN erythropoietin precursor 23 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) CTCTGGGCCTCCCAGTCCTGG 0.632 12 44 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 100551264 100551264 + RNA SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:100551264C>G uc003uxk.1 + 1 c.515C>G uc003uxl.1_5'UTR Homo sapiens MUC3B mRNA for intestinal mucin, partial cds. ACTCCACAGTCAGCACATCCA 0.517 60 147 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103206705 103206705 + Silent SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:103206705A>G uc003vca.2 - 33 5062 c.4902T>C c.(4900-4902)TCT>TCC p.S1634S RELN_uc010liz.2_Silent_p.S1634S NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1634 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAGTATCCATAGAGAGACAGT 0.358 7 132 --- --- --- --- PASS ZNF277 11179 broad.mit.edu 37 7 111936011 111936011 + Silent SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:111936011T>C uc003vge.2 + 3 510 c.381T>C c.(379-381)TTT>TTC p.F127F ZNF277_uc003vgd.2_Silent_p.F127F|ZNF277_uc003vgf.2_Silent_p.F49F|ZNF277_uc003vgg.2_5'UTR NM_021994 NP_068834 Q9NRM2 ZN277_HUMAN zinc finger protein (C2H2 type) 277 127 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(2) 4 CTGCTCCATTTGGTAAGTGTA 0.313 5 218 --- --- --- --- PASS TRIM24 8805 broad.mit.edu 37 7 138252398 138252398 + Missense_Mutation SNP A C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:138252398A>C uc003vuc.2 + 10 1918 c.1703A>C c.(1702-1704)CAG>CCG p.Q568P TRIM24_uc003vub.2_Missense_Mutation_p.Q534P NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha 568 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 GCCATAAAACAGGTATATATC 0.383 23 92 --- --- --- --- PASS BRAF 673 broad.mit.edu 37 7 140494110 140494110 + Missense_Mutation SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:140494110C>G uc003vwc.3 - 8 1199 c.1138G>C c.(1138-1140)GAT>CAT p.D380H NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 380 Breakpoint for translocation to form KIAA1549-BRAF fusion protein. activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) ATACTTACATCAATATTGACA 0.348 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 276 149 --- --- --- --- PASS SSBP1 6742 broad.mit.edu 37 7 141443496 141443496 + Missense_Mutation SNP A T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:141443496A>T uc003vwo.1 + 4 299 c.221A>T c.(220-222)CAA>CTA p.Q74L SSBP1_uc011kri.1_Missense_Mutation_p.Q74L|SSBP1_uc010lnp.1_Missense_Mutation_p.Q74L NM_003143 NP_003134 Q04837 SSBP_HUMAN single-stranded DNA binding protein 1 precursor 74 SSB. DNA replication|positive regulation of helicase activity mitochondrial nucleoid single-stranded DNA binding ovary(1) 1 Melanoma(164;0.0171) GAAGTTTACCAACTGGGTGAG 0.358 50 146 --- --- --- --- PASS OR2A25 392138 broad.mit.edu 37 7 143771480 143771480 + Silent SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:143771480C>A uc011ktx.1 + 1 168 c.168C>A c.(166-168)ACC>ACA p.T56T NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 56 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) GACTCCACACCCCCATGTACT 0.572 92 108 --- --- --- --- PASS NOS3 4846 broad.mit.edu 37 7 150698697 150698697 + Silent SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:150698697A>G uc003wif.2 + 12 1790 c.1494A>G c.(1492-1494)GAA>GAG p.E498E NOS3_uc011kuy.1_Silent_p.E292E|NOS3_uc011kuz.1_Silent_p.E498E|NOS3_uc011kva.1_Silent_p.E498E|NOS3_uc011kvb.1_Silent_p.E498E NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 498 Calmodulin-binding (Potential). anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CCTTTAAAGAAGTGGCCAAGT 0.652 92 157 --- --- --- --- PASS KIF13B 23303 broad.mit.edu 37 8 28988108 28988108 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr8:28988108G>T uc003xhh.3 - 24 3076 c.3017C>A c.(3016-3018)CCT>CAT p.P1006H uc003xhi.1_Intron NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1006 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CACTTCTACAGGGCAGTATTC 0.423 4 147 --- --- --- --- PASS ADAM9 8754 broad.mit.edu 37 8 38961179 38961179 + Missense_Mutation SNP G A A rs147636313 TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr8:38961179G>A uc003xmr.2 + 22 2498 c.2420G>A c.(2419-2421)CGT>CAT p.R807H ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA NM_003816 NP_003807 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 isoform 1 807 Cytoplasmic (Potential). Missing (in Ref. 2; no nucleotide entry). activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) ATTCCTGCCCGTCCTGCTCCT 0.413 63 167 --- --- --- --- PASS VCPIP1 80124 broad.mit.edu 37 8 67547090 67547090 + Silent SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr8:67547090C>T uc003xwn.2 - 3 3574 c.3315G>A c.(3313-3315)CAG>CAA p.Q1105Q NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 1105 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) ATTTTTTTCGCTGGGCCTCAA 0.448 79 159 --- --- --- --- PASS ARFGEF1 10565 broad.mit.edu 37 8 68140281 68140281 + Missense_Mutation SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr8:68140281C>G uc003xxo.1 - 25 3898 c.3508G>C c.(3508-3510)GTA>CTA p.V1170L ARFGEF1_uc003xxl.1_Missense_Mutation_p.V624L|ARFGEF1_uc003xxn.1_Missense_Mutation_p.V153L NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1170 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GATATTTCTACTATTTTTTGT 0.328 20 159 --- --- --- --- PASS KCNB2 9312 broad.mit.edu 37 8 73480279 73480279 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr8:73480279C>T uc003xzb.2 + 2 898 c.310C>T c.(310-312)CGG>TGG p.R104W NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 104 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) AAATTTCTACCGGACCGGGAA 0.463 48 108 --- --- --- --- PASS PSKH2 85481 broad.mit.edu 37 8 87076470 87076470 + Silent SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr8:87076470A>G uc011lfy.1 - 2 576 c.576T>C c.(574-576)TAT>TAC p.Y192Y NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 192 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) CACCTGGATGATAGTATAAGA 0.433 14 146 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100779175 100779175 + Silent SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr8:100779175T>C uc003yiv.2 + 40 7410 c.7299T>C c.(7297-7299)AGT>AGC p.S2433S VPS13B_uc003yiw.2_Silent_p.S2408S NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2433 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) TGAACAGCAGTCAAAATGGAG 0.353 37 64 --- --- --- --- PASS RGS22 26166 broad.mit.edu 37 8 101105711 101105711 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr8:101105711G>C uc003yjb.1 - 3 276 c.81C>G c.(79-81)TTC>TTG p.F27L RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Missense_Mutation_p.F27L|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 27 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGTCTACAAGGAAATCATCTG 0.264 47 64 --- --- --- --- PASS TM7SF4 81501 broad.mit.edu 37 8 105361290 105361290 + Silent SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr8:105361290C>A uc003ylx.1 + 2 559 c.510C>A c.(508-510)ACC>ACA p.T170T NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 170 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GGAACCAGACCCTGGCAGTCT 0.453 79 129 --- --- --- --- PASS NDRG1 10397 broad.mit.edu 37 8 134254284 134254284 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr8:134254284C>T uc003yuh.2 - 15 1511 c.925G>A c.(925-927)GTG>ATG p.V309M NDRG1_uc003yue.1_Missense_Mutation_p.V24M|NDRG1_uc003yuf.1_Missense_Mutation_p.V120M|NDRG1_uc003yug.2_Missense_Mutation_p.V309M|NDRG1_uc010mee.2_Missense_Mutation_p.V228M|NDRG1_uc010mef.2_Missense_Mutation_p.V243M|NDRG1_uc011ljh.1_Missense_Mutation_p.V137M|NDRG1_uc011lji.1_Missense_Mutation_p.V56M|NDRG1_uc003yui.1_5'Flank NM_001135242 NP_001128714 Q92597 NDRG1_HUMAN N-myc downstream regulated 1 309 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding ovary(4) 4 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) ATGCCCTGCACGAAGTACTTG 0.587 20 39 --- --- --- --- PASS ZFAT 57623 broad.mit.edu 37 8 135490822 135490822 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr8:135490822G>A uc003yup.2 - 16 3810 c.3635C>T c.(3634-3636)ACG>ATG p.T1212M ZFAT_uc011ljj.1_Missense_Mutation_p.T331M|ZFAT_uc003yun.2_Missense_Mutation_p.T1200M|ZFAT_uc003yuo.2_Missense_Mutation_p.T1200M|ZFAT_uc010meh.2_Missense_Mutation_p.T1114M|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.T1200M|ZFAT_uc010mej.2_Missense_Mutation_p.T1150M NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 1212 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CCCGCCCTGCGTGTAGACAGT 0.652 2 2 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139158241 139158241 + Silent SNP A T T rs143974870 TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr8:139158241A>T uc003yuy.2 - 15 3672 c.3501T>A c.(3499-3501)CCT>CCA p.P1167P FAM135B_uc003yux.2_Silent_p.P1068P|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.P729P|FAM135B_uc003yvb.2_Missense_Mutation_p.W695R NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1167 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) GTTTTCCTCCAGGGAGCCCCA 0.448 HNSCC(54;0.14) 14 109 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21971036 21971036 + Missense_Mutation SNP C A A rs121913381 TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr9:21971036C>A uc003zpk.2 - 2 534 c.322G>T c.(322-324)GAT>TAT p.D108Y MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R163L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 108 D -> Y (in a head and neck tumor).|D -> H (in a bladder tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.D108Y(14)|p.?(13)|p.D108H(9)|p.D108N(5)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCCCAGGCATCGCGCACGTCC 0.741 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 15 16 --- --- --- --- PASS TRPM3 80036 broad.mit.edu 37 9 73236184 73236184 + Silent SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr9:73236184T>C uc004aid.2 - 14 2023 c.1779A>G c.(1777-1779)AAA>AAG p.K593K TRPM3_uc004ahu.2_Silent_p.K423K|TRPM3_uc004ahv.2_Intron|TRPM3_uc004ahw.2_Silent_p.K465K|TRPM3_uc004ahx.2_Silent_p.K452K|TRPM3_uc004ahy.2_Intron|TRPM3_uc004ahz.2_Intron|TRPM3_uc004aia.2_Silent_p.K440K|TRPM3_uc004aib.2_Intron|TRPM3_uc004aic.2_Silent_p.K593K NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 618 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 GTTTCAAGGCTTTGGGCTGTT 0.264 23 63 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79320513 79320513 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr9:79320513G>C uc010mpk.2 - 8 6801 c.6677C>G c.(6676-6678)CCA>CGA p.P2226R PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2226 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TTCAATCCTTGGGATTCTTCT 0.423 57 130 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90501062 90501062 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr9:90501062G>A uc004app.3 + 4 1695 c.1660G>A c.(1660-1662)GAG>AAG p.E554K C9orf79_uc004apo.1_Missense_Mutation_p.E366K NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 554 integral to membrane ovary(3) 3 TACATCCCAGGAGAGGACACA 0.438 106 192 --- --- --- --- PASS DIRAS2 54769 broad.mit.edu 37 9 93375779 93375779 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr9:93375779C>A uc004aqx.1 - 2 442 c.331G>T c.(331-333)GTG>TTG p.V111L NM_017594 NP_060064 Q96HU8 DIRA2_HUMAN Di-Ras2 111 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity 0 ATGCTCTCCACGTCCCCTTTG 0.592 55 129 --- --- --- --- PASS IARS 3376 broad.mit.edu 37 9 95050532 95050532 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr9:95050532G>A uc004art.1 - 3 409 c.152C>T c.(151-153)ACT>ATT p.T51I IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Missense_Mutation_p.T51I|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Silent_p.L7L NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 51 HIGH region. isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) AGGCAGTCCAGTTGCAAAAGG 0.348 51 101 --- --- --- --- PASS COL15A1 1306 broad.mit.edu 37 9 101824556 101824556 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr9:101824556C>A uc004azb.1 + 38 3767 c.3561C>A c.(3559-3561)GAC>GAA p.D1187E NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 1187 Nonhelical region 10 (NC10). Missing (in Ref. 2; AAC78500). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) TTCCTGCCGACAGCCCTCCAC 0.433 42 109 --- --- --- --- PASS KIAA0368 23392 broad.mit.edu 37 9 114184296 114184296 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr9:114184296G>C uc004bfe.1 - 16 1894 c.1894C>G c.(1894-1896)CAA>GAA p.Q632E KIAA0368_uc010muc.1_Missense_Mutation_p.Q454E NM_001080398 NP_001073867 KIAA0368 protein 0 AAAGCTTCTTGAATAGCAAGT 0.433 34 68 --- --- --- --- PASS PAPPA 5069 broad.mit.edu 37 9 118997697 118997697 + Missense_Mutation SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr9:118997697C>G uc004bjn.2 + 7 2894 c.2513C>G c.(2512-2514)CCA>CGA p.P838R PAPPA_uc011lxp.1_Missense_Mutation_p.P533R|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 838 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 TGTGATGTCCCACTGACCATC 0.532 16 41 --- --- --- --- PASS OR1L4 254973 broad.mit.edu 37 9 125487040 125487040 + Missense_Mutation SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr9:125487040T>C uc004bmu.1 + 1 772 c.772T>C c.(772-774)TAT>CAT p.Y258H NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 258 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GAGTGTCATCTATGTCTATTT 0.517 66 161 --- --- --- --- PASS STRBP 55342 broad.mit.edu 37 9 125898705 125898705 + Silent SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr9:125898705G>A uc004bns.2 - 15 2017 c.1587C>T c.(1585-1587)CTC>CTT p.L529L STRBP_uc004bnt.2_Silent_p.L347L|STRBP_uc004bnu.2_Silent_p.L515L|STRBP_uc004bnv.2_Silent_p.L529L|STRBP_uc004bnr.2_Silent_p.L88L NM_018387 NP_060857 Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 529 DRBM 2. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|skin(1) 2 TCTCTGAGATGAGTTCATACT 0.443 5 198 --- --- --- --- PASS FAM78A 286336 broad.mit.edu 37 9 134136488 134136488 + Silent SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr9:134136488G>C uc004cak.2 - 2 913 c.573C>G c.(571-573)ACC>ACG p.T191T FAM78A_uc004caj.2_Silent_p.T188T NM_033387 NP_203745 Q5JUQ0 FA78A_HUMAN hypothetical protein LOC286336 191 ovary(1) 1 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) CCACCAGCCAGGTGGTGAAGC 0.602 33 110 --- --- --- --- PASS SETX 23064 broad.mit.edu 37 9 135202804 135202804 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr9:135202804G>A uc004cbk.2 - 10 4364 c.4181C>T c.(4180-4182)TCA>TTA p.S1394L SETX_uc004cbj.2_Missense_Mutation_p.S1013L|SETX_uc010mzt.2_Missense_Mutation_p.S1013L NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 1394 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ATTATAATCTGACCTATCAGA 0.363 118 208 --- --- --- --- PASS ANKRD26 22852 broad.mit.edu 37 10 27324214 27324214 + Silent SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr10:27324214T>C uc001ith.2 - 24 3334 c.3162A>G c.(3160-3162)CTA>CTG p.L1054L ANKRD26_uc001itg.2_Silent_p.L741L|ANKRD26_uc009xku.1_Silent_p.L1055L NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1054 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TGTTATCTTTTAGGTTAGACA 0.353 60 75 --- --- --- --- PASS C10orf27 219793 broad.mit.edu 37 10 72535011 72535011 + Missense_Mutation SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr10:72535011A>G uc001jrj.1 - 8 1096 c.706T>C c.(706-708)TGT>CGT p.C236R C10orf27_uc010qjm.1_Missense_Mutation_p.C237R|C10orf27_uc009xqh.1_Intron|C10orf27_uc010qjn.1_Missense_Mutation_p.C235R|C10orf27_uc009xqi.1_RNA NM_152710 NP_689923 Q96M53 SPATL_HUMAN stromal protein associated with thymii and lymph 236 cell differentiation|multicellular organismal development|spermatogenesis cytosol skin(1) 1 AGGATCCGACACAGGAGCTCC 0.592 10 30 --- --- --- --- PASS CDH23 64072 broad.mit.edu 37 10 73571742 73571742 + Missense_Mutation SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr10:73571742T>C uc001jrx.3 + 64 9727 c.9350T>C c.(9349-9351)ATG>ACG p.M3117T CDH23_uc001jsg.3_Missense_Mutation_p.M877T|CDH23_uc001jsh.3_Missense_Mutation_p.M877T|CDH23_uc001jsi.3_Missense_Mutation_p.M877T|CDH23_uc001jsj.3_5'UTR|CDH23_uc010qjr.1_5'UTR NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 3117 Cytoplasmic (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 ATCATGGACATGCCTAACACC 0.632 OREG0020259 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 55 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 10 134622290 134622290 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr10:134622290C>A uc010qux.1 - 50 6961 c.6961G>T c.(6961-6963)GCC>TCC p.A2321S NM_017609 NP_060079 Homo sapiens cDNA, FLJ17989. CAGGTCCAGGCCTGCACTACC 0.403 4 0 --- --- --- --- PASS VENTX 27287 broad.mit.edu 37 10 135051452 135051452 + Nonsense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr10:135051452C>T uc010quy.1 + 1 45 c.34C>T c.(34-36)CAG>TAG p.Q12* NM_014468 NP_055283 O95231 VENTX_HUMAN VENT homeobox 12 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) TCGTGGCCCGCAGCAGCTCTC 0.726 4 8 --- --- --- --- PASS FRG2B 441581 broad.mit.edu 37 10 135440236 135440236 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr10:135440236C>A uc010qvg.1 - 1 64 c.11G>T c.(10-12)GGA>GTA p.G4V NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 4 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GTCTTCATTTCCCTTTCCCAT 0.522 17 391 --- --- --- --- PASS IRF7 3665 broad.mit.edu 37 11 612717 612717 + Silent SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr11:612717G>A uc001lqh.2 - 11 1810 c.1440C>T c.(1438-1440)CTC>CTT p.L480L IRF7_uc009ycb.2_Silent_p.L374L|IRF7_uc010qwf.1_Silent_p.L479L|IRF7_uc001lqf.2_Silent_p.L187L|IRF7_uc010qwg.1_Silent_p.L187L|IRF7_uc001lqg.2_Silent_p.L493L|IRF7_uc001lqi.2_Silent_p.L451L|IRF7_uc010qwh.1_Silent_p.L187L NM_001572 NP_001563 Q92985 IRF7_HUMAN interferon regulatory factor 7 isoform a 480 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGGACAGGCAGAGGCTGAGGC 0.602 38 20 --- --- --- --- PASS USH1C 10083 broad.mit.edu 37 11 17552819 17552819 + Missense_Mutation SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr11:17552819A>G uc001mnf.2 - 4 378 c.269T>C c.(268-270)CTG>CCG p.L90P USH1C_uc001mne.2_Missense_Mutation_p.L90P|USH1C_uc009yhb.2_Missense_Mutation_p.L90P|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.L54P NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 90 PDZ 1. equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 CAGACGGTCCAGACGCACCTC 0.647 14 21 --- --- --- --- PASS WT1 7490 broad.mit.edu 37 11 32456334 32456334 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr11:32456334G>C uc001mtn.1 - 1 754 c.558C>G c.(556-558)AGC>AGG p.S186R WT1_uc001mto.1_Missense_Mutation_p.S186R|WT1_uc001mtp.1_Missense_Mutation_p.S186R|WT1_uc001mtq.1_Missense_Mutation_p.S186R|WT1_uc009yjs.1_RNA|WIT1_uc010rec.1_5'Flank|WIT1_uc010red.1_5'Flank|WIT1_uc010ree.1_5'Flank NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 118 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.P117fs*95(1)|p.G186fs*34(1) EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) ATGACGCCTGGCTGGGCGGAG 0.652 D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 9 13 --- --- --- --- PASS SYT13 57586 broad.mit.edu 37 11 45274136 45274136 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr11:45274136G>T uc001myq.2 - 4 808 c.682C>A c.(682-684)CCC>ACC p.P228T SYT13_uc009yku.1_Missense_Mutation_p.P84T NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 228 Cytoplasmic (Potential).|C2 1. transport vesicle ovary(1) 1 TCCGCCAGGGGGAGCACCAGG 0.682 OREG0020928 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 29 --- --- --- --- PASS KIAA0652 9776 broad.mit.edu 37 11 46690953 46690953 + Splice_Site SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr11:46690953G>C uc009yld.2 + 17 2032 c.1348_splice c.e17-1 p.K450_splice KIAA0652_uc001nda.2_Splice_Site_p.K483_splice|KIAA0652_uc001ndb.2_Splice_Site_p.K450_splice|KIAA0652_uc001ncz.2_Splice_Site_p.K413_splice|KIAA0652_uc001ndc.2_Splice_Site_p.K413_splice|KIAA0652_uc010rgv.1_Splice_Site_p.K334_splice NM_001142673 NP_001136145 O75143 ATG13_HUMAN autophagy-related protein 13 isoform 1 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding 0 GBM - Glioblastoma multiforme(35;0.226) TGTTTTTGAAGAAACCAGCTT 0.428 82 127 --- --- --- --- PASS OR5D13 390142 broad.mit.edu 37 11 55541774 55541774 + Silent SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr11:55541774G>T uc010ril.1 + 1 861 c.861G>T c.(859-861)CTG>CTT p.L287L NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TTCCAATGCTGAACCCATTGA 0.358 32 47 --- --- --- --- PASS OR8J3 81168 broad.mit.edu 37 11 55904776 55904776 + Missense_Mutation SNP A C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr11:55904776A>C uc010riz.1 - 1 419 c.419T>G c.(418-420)CTC>CGC p.L140R NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) CAGGAGGCAGAGCCGCCGAGA 0.468 44 71 --- --- --- --- PASS DLG2 1740 broad.mit.edu 37 11 83673942 83673942 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr11:83673942G>T uc001paj.2 - 9 1314 c.1011C>A c.(1009-1011)GAC>GAA p.D337E DLG2_uc001pai.2_Missense_Mutation_p.D286E|DLG2_uc010rsy.1_Missense_Mutation_p.D304E|DLG2_uc010rsz.1_Missense_Mutation_p.D337E|DLG2_uc010rta.1_Missense_Mutation_p.D337E|DLG2_uc001pak.2_Missense_Mutation_p.D442E|DLG2_uc010rtb.1_Missense_Mutation_p.D304E|DLG2_uc001pal.1_Missense_Mutation_p.D337E|DLG2_uc001pam.1_Missense_Mutation_p.D376E NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 337 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TGTAGTCGTCGTCAACAAGCA 0.423 75 161 --- --- --- --- PASS ZC3H12C 85463 broad.mit.edu 37 11 110035605 110035605 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr11:110035605C>A uc009yxw.2 + 6 1846 c.1795C>A c.(1795-1797)CTG>ATG p.L599M ZC3H12C_uc010rwc.1_Missense_Mutation_p.L600M|ZC3H12C_uc010rwd.1_Missense_Mutation_p.L600M|ZC3H12C_uc001pkr.3_Missense_Mutation_p.L568M NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 599 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) ATACTCAAATCTGAGTCTCTC 0.438 27 37 --- --- --- --- PASS APOA5 116519 broad.mit.edu 37 11 116661365 116661365 + Missense_Mutation SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr11:116661365A>G uc001ppr.2 - 3 588 c.580T>C c.(580-582)TAC>CAC p.Y194H ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.Y194H|APOA5_uc009yzf.2_Missense_Mutation_p.Y194H|APOA5_uc009yzg.2_Missense_Mutation_p.Y220H NM_052968 NP_443200 Q6Q788 APOA5_HUMAN apolipoprotein AV precursor 194 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding 0 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) CTCTCGGCGTATGGGTGGAAG 0.706 6 12 --- --- --- --- PASS IL10RA 3587 broad.mit.edu 37 11 117863985 117863985 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr11:117863985G>A uc001prv.2 + 4 474 c.397G>A c.(397-399)GAG>AAG p.E133K IL10RA_uc010rxl.1_Missense_Mutation_p.E113K|IL10RA_uc010rxm.1_Missense_Mutation_p.E113K|IL10RA_uc010rxn.1_5'UTR|IL10RA_uc001prw.2_5'UTR NM_001558 NP_001549 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha precursor 133 Extracellular (Potential). integral to membrane|plasma membrane interleukin-10 receptor activity ovary(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) TGTGAACCTAGAGATCCACAA 0.552 35 53 --- --- --- --- PASS OR8B2 26595 broad.mit.edu 37 11 124252357 124252357 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr11:124252357C>T uc010sai.1 - 1 883 c.883G>A c.(883-885)GAT>AAT p.D295N NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ACTTTGACATCCTTGTTCCTC 0.368 67 128 --- --- --- --- PASS PEX5 5830 broad.mit.edu 37 12 7361113 7361113 + Silent SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:7361113C>T uc009zfu.1 + 14 1822 c.1242C>T c.(1240-1242)ACC>ACT p.T414T PEX5_uc001qsw.2_Silent_p.T414T|PEX5_uc010sgc.1_Silent_p.T429T|PEX5_uc001qsu.2_Silent_p.T377T|PEX5_uc010sgd.1_Silent_p.T435T|PEX5_uc001qsv.2_Silent_p.T406T NM_001131026 NP_001124498 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 isoform d 414 TPR 3. protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding ovary(1) 1 TGAGCTTCACCAACGAGTCCC 0.557 12 61 --- --- --- --- PASS PZP 5858 broad.mit.edu 37 12 9304846 9304846 + Silent SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:9304846A>G uc001qvl.2 - 32 4211 c.4182T>C c.(4180-4182)GGT>GGC p.G1394G PZP_uc009zgl.2_Silent_p.G1180G NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 GGGGAATAAAACCAGATACCA 0.358 52 136 --- --- --- --- PASS SLCO1C1 53919 broad.mit.edu 37 12 20854375 20854375 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:20854375G>T uc001rej.3 + 4 608 c.253G>T c.(253-255)GAT>TAT p.D85Y SLCO1C1_uc010sii.1_Missense_Mutation_p.D85Y|SLCO1C1_uc010sij.1_Missense_Mutation_p.D85Y|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Missense_Mutation_p.D85Y|SLCO1C1_uc010sik.1_Intron NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 85 Helical; Name=2; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) GGGAGTTATTGATGGTAGTTT 0.403 75 196 --- --- --- --- PASS ARID2 196528 broad.mit.edu 37 12 46246297 46246297 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:46246297G>A uc001ros.1 + 15 4391 c.4391G>A c.(4390-4392)CGC>CAC p.R1464H ARID2_uc001ror.2_Missense_Mutation_p.R1464H|ARID2_uc009zkg.1_Missense_Mutation_p.R920H|ARID2_uc009zkh.1_Missense_Mutation_p.R1091H|ARID2_uc001rou.1_Missense_Mutation_p.R798H NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1464 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CCTCAGCAACGCCCAAGTGTA 0.438 78 294 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49416382 49416382 + Nonsense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:49416382G>T uc001rta.3 - 51 16329 c.16329C>A c.(16327-16329)TAC>TAA p.Y5443* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5443 SET. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCTGCTCTTCGTAGATTTTCT 0.537 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 119 295 --- --- --- --- PASS OR9K2 441639 broad.mit.edu 37 12 55523991 55523991 + Missense_Mutation SNP C G G rs149479525 byFrequency TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:55523991C>G uc010spe.1 + 1 439 c.439C>G c.(439-441)CGC>GGC p.R147G NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, 147 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 GGCTTATGACCGCTTTATTGC 0.498 54 142 --- --- --- --- PASS MIP 4284 broad.mit.edu 37 12 56848367 56848367 + Missense_Mutation SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:56848367T>C uc001slh.2 - 1 63 c.31A>G c.(31-33)AGG>GGG p.R11G NM_012064 NP_036196 P30301 MIP_HUMAN major intrinsic protein of lens fiber 11 Helical; (By similarity). response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens skin(1) 1 AATATGGCCCTCCAAAAGGAG 0.602 3 121 --- --- --- --- PASS FAM19A2 338811 broad.mit.edu 37 12 62148664 62148664 + Nonsense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:62148664G>C uc001sqw.2 - 3 1761 c.248C>G c.(247-249)TCA>TGA p.S83* FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Nonsense_Mutation_p.S83*|FAM19A2_uc001sqy.2_RNA NM_178539 NP_848634 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine 83 cytoplasm ovary(1) 1 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) ATCCACACATGATGGAGCAGC 0.493 6 109 --- --- --- --- PASS AVPR1A 552 broad.mit.edu 37 12 63544086 63544086 + Silent SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:63544086C>A uc001sro.1 - 1 2505 c.531G>T c.(529-531)CTG>CTT p.L177L NM_000706 NP_000697 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 177 Helical; Name=4; (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity 0 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) GCACGAAGCTCAGCACCCAGG 0.642 45 106 --- --- --- --- PASS CNOT2 4848 broad.mit.edu 37 12 70723272 70723272 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:70723272G>A uc001svv.2 + 5 887 c.308G>A c.(307-309)GGC>GAC p.G103D CNOT2_uc009zro.2_Missense_Mutation_p.G103D|CNOT2_uc009zrp.2_Missense_Mutation_p.G83D|CNOT2_uc009zrq.2_Missense_Mutation_p.G103D NM_014515 NP_055330 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 103 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity 0 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) TTATCACAAGGCACTCAGTTA 0.458 42 97 --- --- --- --- PASS KCNC2 3747 broad.mit.edu 37 12 75444795 75444795 + Silent SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:75444795C>A uc001sxg.1 - 3 1534 c.990G>T c.(988-990)GTG>GTT p.V330V KCNC2_uc009zry.2_Silent_p.V330V|KCNC2_uc001sxe.2_Silent_p.V330V|KCNC2_uc001sxf.2_Silent_p.V330V|KCNC2_uc010stw.1_Silent_p.V330V NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 330 Helical; Name=Segment S3; (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 CACTGAGTCCCACCTCTAAGT 0.428 56 122 --- --- --- --- PASS C12orf50 160419 broad.mit.edu 37 12 88379738 88379738 + Missense_Mutation SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:88379738T>C uc001tam.1 - 11 1183 c.1015A>G c.(1015-1017)AGA>GGA p.R339G C12orf50_uc001tan.2_Missense_Mutation_p.R354G NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 339 skin(2)|ovary(1) 3 ACAGCATCTCTTTGAACGTGG 0.473 94 217 --- --- --- --- PASS MYBPC1 4604 broad.mit.edu 37 12 102046455 102046455 + Splice_Site SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:102046455G>T uc001tii.2 + 15 1554 c.1452_splice c.e15-1 p.R484_splice MYBPC1_uc001tig.2_Splice_Site_p.R509_splice|MYBPC1_uc010svq.1_Splice_Site_p.R471_splice|MYBPC1_uc001tih.2_Splice_Site_p.R509_splice|MYBPC1_uc001tij.2_Splice_Site_p.R484_splice|MYBPC1_uc010svr.1_Splice_Site_p.R484_splice|MYBPC1_uc010svs.1_Splice_Site_p.R484_splice|MYBPC1_uc010svt.1_Splice_Site_p.R472_splice|MYBPC1_uc010svu.1_Splice_Site_p.R465_splice|MYBPC1_uc001tik.2_Splice_Site_p.R458_splice NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 TGTTTCCTTAGGATCCACAAG 0.373 67 214 --- --- --- --- PASS MYBPC1 4604 broad.mit.edu 37 12 102061515 102061515 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:102061515G>T uc001tii.2 + 22 2443 c.2341G>T c.(2341-2343)GAC>TAC p.D781Y MYBPC1_uc001tig.2_Missense_Mutation_p.D788Y|MYBPC1_uc010svq.1_Missense_Mutation_p.D750Y|MYBPC1_uc001tih.2_Missense_Mutation_p.D788Y|MYBPC1_uc001tij.2_Missense_Mutation_p.D763Y|MYBPC1_uc010svr.1_Missense_Mutation_p.D763Y|MYBPC1_uc010svs.1_Missense_Mutation_p.D781Y|MYBPC1_uc010svt.1_Missense_Mutation_p.D751Y|MYBPC1_uc010svu.1_Missense_Mutation_p.D744Y|MYBPC1_uc001tik.2_Missense_Mutation_p.D737Y|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 781 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 TTCAGCTGAGGACTGGATAGT 0.383 26 92 --- --- --- --- PASS C12orf48 55010 broad.mit.edu 37 12 102559614 102559614 + Missense_Mutation SNP T A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:102559614T>A uc001tjf.2 + 6 886 c.774T>A c.(772-774)AAT>AAA p.N258K C12orf48_uc001tjg.2_Missense_Mutation_p.N177K|C12orf48_uc010swa.1_Missense_Mutation_p.N335K|C12orf48_uc001tjh.2_Missense_Mutation_p.N177K|C12orf48_uc010swb.1_Missense_Mutation_p.N144K|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_5'UTR|C12orf48_uc001tjk.2_Missense_Mutation_p.N258K|C12orf48_uc009zud.2_Missense_Mutation_p.N258K NM_017915 NP_060385 Q9NWS1 PR1BP_HUMAN hypothetical protein LOC55010 258 response to DNA damage stimulus cytoplasm|nucleus DNA binding 0 ATTTTATTAATTTCATTGACA 0.308 55 184 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104014315 104014315 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:104014315G>C uc001tjw.2 + 4 587 c.401G>C c.(400-402)GGA>GCA p.G134A NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 134 Extracellular (Potential).|EGF-like 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 GAAGGAAATGGAACCTGCTCC 0.458 5 20 --- --- --- --- PASS HSP90B1 7184 broad.mit.edu 37 12 104341167 104341167 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:104341167G>C uc001tkb.1 + 17 2446 c.2341G>C c.(2341-2343)GAA>CAA p.E781Q HSP90B1_uc010swg.1_Missense_Mutation_p.E446Q|HSP90B1_uc009zui.1_Missense_Mutation_p.K317N NM_003299 NP_003290 P14625 ENPL_HUMAN heat shock protein 90kDa beta, member 1 781 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding ovary(2)|skin(1) 3 Rifabutin(DB00615) cgaagatgaagaaatggatgt 0.189 51 115 --- --- --- --- PASS USP30 84749 broad.mit.edu 37 12 109520716 109520716 + Silent SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:109520716G>A uc010sxi.1 + 11 1121 c.1017G>A c.(1015-1017)CGG>CGA p.R339R USP30_uc001tnu.3_Silent_p.R308R|USP30_uc001tnw.3_Silent_p.R56R NM_032663 NP_116052 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 339 Cytoplasmic (Potential). ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(1) 1 CTCTGAAGCGGCATGAGCACG 0.532 4 85 --- --- --- --- PASS DDX54 79039 broad.mit.edu 37 12 113601994 113601994 + Nonsense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:113601994G>A uc001tup.2 - 15 1844 c.1816C>T c.(1816-1818)CAG>TAG p.Q606* DDX54_uc001tuq.3_Nonsense_Mutation_p.Q606* NM_024072 NP_076977 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 606 Interaction with nuclear receptors. estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity skin(2)|central_nervous_system(1) 3 TGCTGTCCCTGCTGGAAGCGG 0.577 5 6 --- --- --- --- PASS WDR66 144406 broad.mit.edu 37 12 122413512 122413512 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:122413512G>C uc009zxk.2 + 19 3069 c.2927G>C c.(2926-2928)AGA>ACA p.R976T NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 976 calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) ATGGAGACCAGAAAGGTGTCA 0.438 50 97 --- --- --- --- PASS TMEM132B 114795 broad.mit.edu 37 12 125834677 125834677 + Silent SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:125834677G>T uc001uhe.1 + 2 740 c.732G>T c.(730-732)TCG>TCT p.S244S NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 244 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ATATCCACTCGGGCCTGGAGA 0.592 51 91 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129558880 129558880 + Missense_Mutation SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:129558880T>C uc009zyl.1 - 9 3168 c.2840A>G c.(2839-2841)CAC>CGC p.H947R TMEM132D_uc001uia.2_Missense_Mutation_p.H485R NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 947 Cytoplasmic (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AACCTGTTTGTGTCTGTATTT 0.443 76 179 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129559570 129559570 + Missense_Mutation SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr12:129559570T>C uc009zyl.1 - 9 2478 c.2150A>G c.(2149-2151)GAT>GGT p.D717G TMEM132D_uc001uia.2_Missense_Mutation_p.D255G NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 717 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GACTGAGCCATCACTGAACTG 0.458 40 104 --- --- --- --- PASS SHISA2 387914 broad.mit.edu 37 13 26621149 26621149 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr13:26621149G>C uc001uqm.1 - 2 475 c.390C>G c.(388-390)ATC>ATG p.I130M NM_001007538 NP_001007539 Q6UWI4 SHSA2_HUMAN shisa homolog 2 precursor 130 Helical; (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 GGGACCCCAAGATGATAAAGG 0.547 21 28 --- --- --- --- PASS BRCA2 675 broad.mit.edu 37 13 32911360 32911360 + Silent SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr13:32911360A>G uc001uub.1 + 11 3095 c.2868A>G c.(2866-2868)AAA>AAG p.K956K NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 956 Interaction with NPM1. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGGAGAACAAAAATAGTGTAA 0.313 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 3 119 --- --- --- --- PASS AKAP11 11215 broad.mit.edu 37 13 42877380 42877380 + Nonsense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr13:42877380G>T uc001uys.1 + 8 4673 c.4498G>T c.(4498-4500)GAG>TAG p.E1500* NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1500 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AGAAGATAATGAGTGTCACGT 0.403 82 130 --- --- --- --- PASS DCT 1638 broad.mit.edu 37 13 95095744 95095744 + Nonsense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr13:95095744C>A uc001vlv.3 - 7 1754 c.1327G>T c.(1327-1329)GAA>TAA p.E443* DCT_uc010afh.2_Nonsense_Mutation_p.E476* NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 443 Lumenal, melanosome (Potential). epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) AAAAAGAGTTCTTCATTAGTC 0.453 34 48 --- --- --- --- PASS ARGLU1 55082 broad.mit.edu 37 13 107220071 107220071 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr13:107220071G>A uc001vqk.3 - 1 444 c.197C>T c.(196-198)TCC>TTC p.S66F NM_018011 NP_060481 Q9NWB6 ARGL1_HUMAN arginine and glutamate rich 1 66 Arg-rich. 0 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) CTCGCGCCGGGACACGGCCGT 0.697 15 13 --- --- --- --- PASS ABHD13 84945 broad.mit.edu 37 13 108882380 108882380 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr13:108882380C>T uc001vqq.2 + 2 1079 c.814C>T c.(814-816)CCA>TCA p.P272S NM_032859 NP_116248 Q7L211 ABHDD_HUMAN abhydrolase domain containing 13 272 integral to membrane hydrolase activity ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) TCAATTAATTCCACCAGTAAT 0.388 14 178 --- --- --- --- PASS ZNF828 283489 broad.mit.edu 37 13 115091304 115091304 + Missense_Mutation SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr13:115091304A>G uc010ahb.2 + 3 2316 c.1987A>G c.(1987-1989)ATT>GTT p.I663V ZNF828_uc001vuv.2_Missense_Mutation_p.I663V|ZNF828_uc010tko.1_Missense_Mutation_p.I663V NM_001164144 NP_001157616 Q96JM3 ZN828_HUMAN zinc finger protein 828 663 Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_epithelial(44;0.122)|all_lung(25;0.123) BRCA - Breast invasive adenocarcinoma(86;0.104) OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197) TGTGGAATCCATTGATTTTAG 0.383 32 54 --- --- --- --- PASS OR4K2 390431 broad.mit.edu 37 14 20344457 20344457 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr14:20344457G>A uc001vwh.1 + 1 31 c.31G>A c.(31-33)GAA>AAA p.E11K NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TACCATGTCTGAATTTGTTTT 0.363 8 303 --- --- --- --- PASS OR4K15 81127 broad.mit.edu 37 14 20443871 20443871 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr14:20443871G>T uc010tkx.1 + 1 194 c.194G>T c.(193-195)GGC>GTC p.G65V NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 65 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTCTGTTGGGCAACTTTCTC 0.448 96 164 --- --- --- --- PASS OR4K14 122740 broad.mit.edu 37 14 20483304 20483304 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr14:20483304G>C uc010tky.1 - 1 49 c.49C>G c.(49-51)CTC>GTC p.L17V NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 17 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) GAAGTGCAGAGTCCATGCAAC 0.348 3 95 --- --- --- --- PASS KCNH5 27133 broad.mit.edu 37 14 63174751 63174751 + Silent SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr14:63174751G>C uc001xfx.2 - 11 2493 c.2442C>G c.(2440-2442)CTC>CTG p.L814L KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 814 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TATTATTCTTGAGTCGCAGCC 0.468 9 234 --- --- --- --- PASS RIN3 79890 broad.mit.edu 37 14 93118824 93118824 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr14:93118824C>T uc001yap.2 + 6 1582 c.1430C>T c.(1429-1431)CCC>CTC p.P477L RIN3_uc010auk.2_Missense_Mutation_p.P139L|RIN3_uc001yaq.2_Missense_Mutation_p.P402L|RIN3_uc001yar.1_Missense_Mutation_p.P139L|RIN3_uc001yas.1_Missense_Mutation_p.P139L NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 477 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) CTCCCAGCTCCCTTAGAGAAC 0.632 45 81 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106405633 106405633 + RNA SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr14:106405633G>A uc010tyt.1 - 2358 c.42431C>T Parts of antibodies, mostly variable regions. 0 ATACACAGCCGTGTCCTCGGG 0.517 79 69 --- --- --- --- PASS MTMR15 22909 broad.mit.edu 37 15 31197396 31197396 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr15:31197396C>T uc001zff.2 + 2 821 c.530C>T c.(529-531)GCC>GTC p.A177V MTMR15_uc001zfc.3_Missense_Mutation_p.A177V|MTMR15_uc010azw.2_Missense_Mutation_p.A177V|MTMR15_uc001zfd.3_Missense_Mutation_p.A177V|MTMR15_uc001zfe.2_5'UTR NM_014967 NP_055782 Q9Y2M0 FAN1_HUMAN myotubularin related protein 15 isoform a 177 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding 0 all_lung(180;2.23e-09) all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168) GAAGAATTTGCCGGTTCTAGT 0.373 Direct_reversal_of_damage|Editing_and_processing_nucleases 5 129 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33858998 33858998 + Silent SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr15:33858998C>A uc001zhi.2 + 12 1336 c.1266C>A c.(1264-1266)GTC>GTA p.V422V RYR3_uc010bar.2_Silent_p.V422V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 422 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCCAGTTTGTCAGGTATGTTA 0.507 49 122 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34018666 34018666 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr15:34018666G>T uc001zhi.2 + 46 7062 c.6992G>T c.(6991-6993)GGG>GTG p.G2331V RYR3_uc010bar.2_Missense_Mutation_p.G2331V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2331 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GACCTGGTTGGGATCATCAGC 0.587 10 16 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34130643 34130643 + Silent SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr15:34130643C>T uc001zhi.2 + 89 12532 c.12462C>T c.(12460-12462)ACC>ACT p.T4154T RYR3_uc010bar.2_Silent_p.T4149T NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4154 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) GGAATGTCACCGACTTCCTGA 0.507 7 142 --- --- --- --- PASS SPTBN5 51332 broad.mit.edu 37 15 42172460 42172460 + Missense_Mutation SNP A C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr15:42172460A>C uc001zos.2 - 14 2937 c.2604T>G c.(2602-2604)AGT>AGG p.S868R NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 903 Spectrin 7. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CCCCACAGGAACTGCAGAAAC 0.647 3 9 --- --- --- --- PASS PLA2G4F 255189 broad.mit.edu 37 15 42434795 42434795 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr15:42434795C>T uc001zoz.2 - 19 2323 c.2260G>A c.(2260-2262)GAC>AAC p.D754N PLA2G4F_uc010bcq.2_Missense_Mutation_p.D51N|PLA2G4F_uc001zoy.2_Missense_Mutation_p.D386N|PLA2G4F_uc010bcr.2_Missense_Mutation_p.D505N|PLA2G4F_uc001zpa.2_Missense_Mutation_p.D505N|PLA2G4F_uc010bcs.2_Missense_Mutation_p.D541N NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 754 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GAGCGGGGGTCCTCAGCCTTG 0.627 40 89 --- --- --- --- PASS WDR72 256764 broad.mit.edu 37 15 54006673 54006673 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr15:54006673C>A uc002acj.2 - 6 591 c.549G>T c.(547-549)GAG>GAT p.E183D WDR72_uc010bfi.1_Missense_Mutation_p.E183D NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 183 WD 3. E -> G (in Ref. 1; CAD97880). lung(1)|skin(1) 2 all cancers(107;0.0511) ATACTTTGAGCTCACCAGCTA 0.348 31 45 --- --- --- --- PASS LCTL 197021 broad.mit.edu 37 15 66853529 66853529 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr15:66853529G>T uc002aqc.2 - 5 737 c.605C>A c.(604-606)CCT>CAT p.P202H LCTL_uc002aqd.3_Missense_Mutation_p.P29H|LCTL_uc010bhw.2_5'UTR NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN lactase-like precursor 202 Extracellular (Potential). carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(2) 2 GCTTACCCGAGGATCACTGAA 0.552 4 148 --- --- --- --- PASS FBXO22 26263 broad.mit.edu 37 15 76222290 76222290 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr15:76222290G>A uc002bbk.2 + 6 799 c.694G>A c.(694-696)GCC>ACC p.A232T FBXO22_uc002bbj.1_Missense_Mutation_p.A232T|FBXO22_uc002bbl.2_Missense_Mutation_p.A128T NM_147188 NP_671717 Q8NEZ5 FBX22_HUMAN F-box only protein 22 isoform a 232 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity 0 TAAGGTGGGAGCCAGTAATTA 0.433 98 222 --- --- --- --- PASS TBC1D2B 23102 broad.mit.edu 37 15 78293997 78293997 + Missense_Mutation SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr15:78293997T>C uc002bcy.3 - 12 2660 c.2660A>G c.(2659-2661)TAT>TGT p.Y887C TBC1D2B_uc010bla.2_Missense_Mutation_p.Y887C NM_144572 NP_653173 Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B isoform a 887 intracellular protein binding|Rab GTPase activator activity ovary(1)|large_intestine(1)|breast(1) 3 GTAGCGGAGATACTTAAATAT 0.443 15 18 --- --- --- --- PASS RASGRF1 5923 broad.mit.edu 37 15 79298747 79298747 + Missense_Mutation SNP A T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr15:79298747A>T uc002beq.2 - 15 2270 c.1895T>A c.(1894-1896)GTT>GAT p.V632D RASGRF1_uc002bep.2_Missense_Mutation_p.V619D|RASGRF1_uc010blm.1_Missense_Mutation_p.V541D|RASGRF1_uc002ber.3_Missense_Mutation_p.V619D|RASGRF1_uc010unh.1_Missense_Mutation_p.V27D NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 632 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 GCGAATGTCAACATCATCACA 0.562 28 84 --- --- --- --- PASS FURIN 5045 broad.mit.edu 37 15 91425048 91425048 + Silent SNP A T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr15:91425048A>T uc002bpu.1 + 16 2541 c.2325A>T c.(2323-2325)TCA>TCT p.S775S FES_uc010uqj.1_5'Flank|FES_uc010uqk.1_5'Flank|FES_uc002bpw.2_5'Flank|FES_uc002bpv.2_5'Flank NM_002569 NP_002560 P09958 FURIN_HUMAN furin preproprotein 775 Trans Golgi network signal. cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity central_nervous_system(4)|lung(2)|breast(1) 7 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CGTCTGACTCAGAAGAGGACG 0.622 41 65 --- --- --- --- PASS UNC45A 55898 broad.mit.edu 37 15 91489919 91489919 + Silent SNP A T T rs12911432 byFrequency TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr15:91489919A>T uc002bqg.2 + 10 1615 c.1275A>T c.(1273-1275)CCA>CCT p.P425P UNC45A_uc002bqd.2_Silent_p.P410P|UNC45A_uc010uqr.1_5'Flank|UNC45A_uc002bqi.2_5'Flank NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN smooth muscle cell associated protein-1 isoform 425 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding ovary(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TGCAGGGCCCATGTGACGCTG 0.657 14 39 --- --- --- --- PASS ADAMTS17 170691 broad.mit.edu 37 15 100871133 100871133 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr15:100871133C>T uc002bvv.1 - 3 656 c.577G>A c.(577-579)GAG>AAG p.E193K ADAMTS17_uc002bvx.1_5'UTR NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 193 proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CTCTGGGCCTCAGCAGAAGGG 0.577 46 136 --- --- --- --- PASS BAIAP3 8938 broad.mit.edu 37 16 1396058 1396058 + Silent SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr16:1396058C>A uc002clk.1 + 24 2385 c.2385C>A c.(2383-2385)GCC>GCA p.A795A BAIAP3_uc002clj.2_Silent_p.A777A|BAIAP3_uc010uuz.1_Silent_p.A760A|BAIAP3_uc010uva.1_Silent_p.A732A|BAIAP3_uc010uvc.1_Silent_p.A724A NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 795 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) CAGGGGCGGCCGGTGAAGCAG 0.677 4 7 --- --- --- --- PASS UNKL 64718 broad.mit.edu 37 16 1417165 1417165 + Silent SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr16:1417165G>A uc002cln.2 - 5 858 c.471C>T c.(469-471)ATC>ATT p.I157I UNKL_uc010brn.1_Intron|UNKL_uc002clo.2_Silent_p.I154I|UNKL_uc002clp.2_Intron NM_023076 NP_075564 Q9H9P5 UNKL_HUMAN unkempt homolog (Drosophila)-like isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding 0 Hepatocellular(780;0.0893) GAATGGTGCCGATGTCCCCAC 0.687 4 3 --- --- --- --- PASS CORO7 79585 broad.mit.edu 37 16 4411466 4411466 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr16:4411466C>T uc002cwh.3 - 17 1703 c.1583G>A c.(1582-1584)CGG>CAG p.R528Q CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.R528Q|CORO7_uc002cwg.3_Missense_Mutation_p.R308Q|CORO7_uc010uxh.1_Missense_Mutation_p.R510Q|CORO7_uc010uxi.1_Missense_Mutation_p.R443Q|CORO7_uc002cwi.1_Missense_Mutation_p.R308Q|CORO7_uc010uxj.1_RNA NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 528 cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 GCCAGGCTTCCGTAGCTGTGG 0.682 29 25 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9857192 9857192 + Silent SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr16:9857192C>G uc002czo.3 - 13 4757 c.4209G>C c.(4207-4209)TCG>TCC p.S1403S GRIN2A_uc010uym.1_Silent_p.S1403S|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1403 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACCTCAAGGACGACCGAAGAT 0.512 40 35 --- --- --- --- PASS XYLT1 64131 broad.mit.edu 37 16 17294508 17294508 + Missense_Mutation SNP T G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr16:17294508T>G uc002dfa.2 - 4 1002 c.917A>C c.(916-918)AAA>ACA p.K306T NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 306 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 CTTGTTGGCTTTACCTGGGGA 0.547 82 89 --- --- --- --- PASS EEF2K 29904 broad.mit.edu 37 16 22262526 22262526 + Silent SNP C T T rs55959085 byFrequency TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr16:22262526C>T uc002dki.2 + 6 986 c.501C>T c.(499-501)TAC>TAT p.Y167Y EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 167 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) CCTCCAACTACGTGGCGAAGC 0.592 55 122 --- --- --- --- PASS GTF3C1 2975 broad.mit.edu 37 16 27497348 27497348 + Silent SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr16:27497348G>A uc002dov.1 - 24 3868 c.3828C>T c.(3826-3828)TGC>TGT p.C1276C GTF3C1_uc002dou.2_Silent_p.C1276C NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1276 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 TGGCAATGCGGCACAGCACAA 0.632 4 161 --- --- --- --- PASS TRIM72 493829 broad.mit.edu 37 16 31235551 31235551 + Silent SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr16:31235551G>T uc002ebn.1 + 7 1138 c.909G>T c.(907-909)GTG>GTT p.V303V uc002ebp.1_5'Flank NM_001008274 NP_001008275 Q6ZMU5 TRI72_HUMAN tripartite motif-containing 72 303 B30.2/SPRY. exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding 0 CGAGCCTGGTGGTGTCTTCCT 0.687 7 14 --- --- --- --- PASS CBLN1 869 broad.mit.edu 37 16 49315138 49315138 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr16:49315138C>T uc002efq.2 - 1 578 c.239G>A c.(238-240)CGC>CAC p.R80H NM_004352 NP_004343 P23435 CBLN1_HUMAN cerebellin 1 precursor 80 C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity). nervous system development|synaptic transmission cell junction|extracellular region|synapse 0 all_cancers(37;0.0766)|all_lung(18;0.24) GATCATGGTGCGATTACTCAT 0.607 25 42 --- --- --- --- PASS FAM65A 79567 broad.mit.edu 37 16 67579917 67579917 + Silent SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr16:67579917G>A uc010vjp.1 + 20 3609 c.3513G>A c.(3511-3513)CTG>CTA p.L1171L FAM65A_uc002eth.2_Silent_p.L1151L|FAM65A_uc010cej.2_Silent_p.L1154L|FAM65A_uc010vjq.1_Silent_p.L1165L|FAM65A_uc002etk.2_Silent_p.L1149L NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 1155 cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) CTGGCTGCCTGGCCCTAGGCT 0.652 9 94 --- --- --- --- PASS FOXC2 2303 broad.mit.edu 37 16 86602312 86602312 + Silent SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr16:86602312C>T uc002fjq.2 + 1 1456 c.1371C>T c.(1369-1371)CAC>CAT p.H457H NM_005251 NP_005242 Q99958 FOXC2_HUMAN forkhead box C2 457 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding 0 TCAACTCCCACCGGCTGGGGA 0.637 Late-onset_Hereditary_Lymphedema 17 28 --- --- --- --- PASS ANKRD11 29123 broad.mit.edu 37 16 89350274 89350274 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr16:89350274G>C uc002fmx.1 - 9 3137 c.2676C>G c.(2674-2676)AGC>AGG p.S892R ANKRD11_uc002fmy.1_Missense_Mutation_p.S892R|ANKRD11_uc002fnc.1_Missense_Mutation_p.S892R|ANKRD11_uc002fnb.1_Missense_Mutation_p.S849R NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 892 Lys-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CCCGGGCCCGGCTGTCCCGCC 0.547 51 61 --- --- --- --- PASS GLTPD2 388323 broad.mit.edu 37 17 4692356 4692356 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr17:4692356C>T uc002fza.1 + 1 103 c.50C>T c.(49-51)TCA>TTA p.S17L VMO1_uc002fyx.2_5'Flank|VMO1_uc010vsh.1_5'Flank|VMO1_uc010vsi.1_5'Flank|VMO1_uc002fyy.2_5'Flank|uc002fyz.2_3'UTR NM_001014985 NP_001014985 glycolipid transfer protein domain containing 2 0 TTCAGCCACTCAATTCCTCTC 0.662 5 31 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577025 7577025 + Nonsense_Mutation SNP T A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr17:7577025T>A uc002gim.2 - 8 1107 c.913A>T c.(913-915)AAG>TAG p.K305* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.K305*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.K173*|TP53_uc010cng.1_Nonsense_Mutation_p.K173*|TP53_uc002gii.1_Nonsense_Mutation_p.K173*|TP53_uc010cnh.1_Nonsense_Mutation_p.K305*|TP53_uc010cni.1_Nonsense_Mutation_p.K305*|TP53_uc002gij.2_Nonsense_Mutation_p.K305* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 305 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. K -> E (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in a sporadic cancer; somatic mutation).|K -> N (in sporadic cancers; somatic mutation; loss of nuclear localization).|K -> M (in a familial cancer not matching LFS; germline mutation and 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.K305*(15)|p.0?(7)|p.?(3)|p.K305N(3)|p.K305R(2)|p.K305K(1)|p.L265_K305del41(1)|p.K305E(1)|p.K305fs*1(1)|p.K305fs*32(1)|p.K305T(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) TTACCTCGCTTAGTGCTCCCT 0.562 111 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) 108 66 --- --- --- --- PASS TRAPPC1 58485 broad.mit.edu 37 17 7834841 7834841 + Silent SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr17:7834841C>T uc002gjo.1 - 2 269 c.153G>A c.(151-153)AAG>AAA p.K51K KCNAB3_uc002gjm.1_5'Flank|KCNAB3_uc010vul.1_5'Flank|CNTROB_uc002gjp.2_5'Flank|CNTROB_uc002gjq.2_5'Flank|CNTROB_uc002gjr.2_5'Flank NM_021210 NP_067033 Q9Y5R8 TPPC1_HUMAN trafficking protein particle complex 1 51 ER to Golgi vesicle-mediated transport endoplasmic reticulum 0 Prostate(122;0.173) GCGGGGACATCTTGCTGACAA 0.542 26 63 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11666769 11666769 + Silent SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr17:11666769C>A uc002gne.2 + 36 7076 c.7008C>A c.(7006-7008)ATC>ATA p.I2336I DNAH9_uc010coo.2_Silent_p.I1630I NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2336 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) TTAAGAAGATCATTCCCATCC 0.498 5 259 --- --- --- --- PASS ACCN1 40 broad.mit.edu 37 17 32483431 32483431 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr17:32483431G>A uc002hhu.2 - 1 395 c.121C>T c.(121-123)CGG>TGG p.R41W NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 41 Helical; (Potential). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) AGCACACGCCGGATGGTCAGC 0.602 4 69 --- --- --- --- PASS KRT24 192666 broad.mit.edu 37 17 38857508 38857508 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr17:38857508C>T uc002hvd.2 - 3 796 c.739G>A c.(739-741)GAC>AAC p.D247N NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN keratin 24 247 Rod.|Coil 1B. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.00526) CCATTGATGTCAGCCTCCACG 0.547 31 72 --- --- --- --- PASS KIAA1267 284058 broad.mit.edu 37 17 44109491 44109491 + Silent SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr17:44109491A>G uc002ikb.2 - 13 3097 c.3012T>C c.(3010-3012)CCT>CCC p.P1004P KIAA1267_uc002ikc.2_Silent_p.P1004P|KIAA1267_uc002ikd.2_Silent_p.P1004P|KIAA1267_uc010dav.2_Silent_p.P1003P|KIAA1267_uc010wkb.1_Silent_p.P335P|KIAA1267_uc010wkc.1_Silent_p.P272P NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 1004 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) CCCGAGCCACAGGGGTGAGGG 0.592 3 118 --- --- --- --- PASS LPO 4025 broad.mit.edu 37 17 56320361 56320361 + Silent SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr17:56320361C>G uc002ivt.2 + 2 337 c.21C>G c.(19-21)CTC>CTG p.L7L LPO_uc010dco.2_Silent_p.L7L|LPO_uc010wnr.1_Silent_p.L7L|LPO_uc010wns.1_5'UTR|LPO_uc010dcp.2_Silent_p.L7L NM_006151 NP_006142 P22079 PERL_HUMAN lactoperoxidase isoform 1 preproprotein 7 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|breast(1) 2 TTCTCCATCTCCCAGCCCTCC 0.468 83 235 --- --- --- --- PASS HEATR6 63897 broad.mit.edu 37 17 58128309 58128309 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr17:58128309G>T uc002iyk.1 - 15 2336 c.2319C>A c.(2317-2319)AAC>AAA p.N773K HEATR6_uc010ddk.1_Missense_Mutation_p.N312K|HEATR6_uc010wos.1_Intron NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 773 binding ovary(1)|skin(1) 2 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) GTAAAGGACCGTTCAGCATCA 0.537 18 59 --- --- --- --- PASS ABCA9 10350 broad.mit.edu 37 17 67028385 67028385 + Missense_Mutation SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr17:67028385A>G uc002jhu.2 - 10 1452 c.1309T>C c.(1309-1311)TTC>CTC p.F437L ABCA9_uc010dez.2_Missense_Mutation_p.F437L NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 437 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) GATTTCAGGAAAAACAAGGGA 0.423 37 80 --- --- --- --- PASS ABCA6 23460 broad.mit.edu 37 17 67109871 67109871 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr17:67109871C>A uc002jhw.1 - 14 1965 c.1790G>T c.(1789-1791)CGA>CTA p.R597L ABCA6_uc002jhx.1_Missense_Mutation_p.R50L NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 597 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) CAATAATATTCGTTGTACCTA 0.224 3 98 --- --- --- --- PASS TSEN54 283989 broad.mit.edu 37 17 73517590 73517590 + Silent SNP C A A rs147165460 TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr17:73517590C>A uc002jof.1 + 7 655 c.622C>A c.(622-624)CGG>AGG p.R208R TSEN54_uc002joe.1_3'UTR NM_207346 NP_997229 Q7Z6J9 SEN54_HUMAN tRNA splicing endonuclease 54 homolog 208 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation nucleolus ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTCCAGCCCTCGGTAACTCCC 0.587 6 67 --- --- --- --- PASS EVPL 2125 broad.mit.edu 37 17 74013980 74013980 + Nonsense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr17:74013980G>C uc002jqi.2 - 14 1778 c.1550C>G c.(1549-1551)TCA>TGA p.S517* EVPL_uc010wss.1_Nonsense_Mutation_p.S539*|EVPL_uc010wst.1_5'UTR NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 517 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 GGCCAGGTCTGAGCCAGATGG 0.657 24 57 --- --- --- --- PASS TBCD 6904 broad.mit.edu 37 17 80828142 80828142 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr17:80828142G>T uc002kfz.2 + 14 1491 c.1361G>T c.(1360-1362)CGG>CTG p.R454L TBCD_uc002kfx.1_Missense_Mutation_p.R437L|TBCD_uc002kfy.1_Missense_Mutation_p.R454L NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 454 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) GACGAGAAGCGGGGTGCCTGC 0.632 23 58 --- --- --- --- PASS COLEC12 81035 broad.mit.edu 37 18 346755 346755 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr18:346755C>A uc002kkm.2 - 5 1082 c.867G>T c.(865-867)CAG>CAT p.Q289H NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 289 Potential.|Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) ATGAGTTGAGCTGGCTGTTCA 0.507 106 70 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5395077 5395077 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr18:5395077C>T uc002kmt.1 - 21 3228 c.3142G>A c.(3142-3144)GAC>AAC p.D1048N EPB41L3_uc010wzh.1_Missense_Mutation_p.D879N|EPB41L3_uc002kmu.1_Missense_Mutation_p.D826N|EPB41L3_uc010dkq.1_Missense_Mutation_p.D717N|EPB41L3_uc002kms.1_Missense_Mutation_p.D283N|EPB41L3_uc010wze.1_Missense_Mutation_p.D353N|EPB41L3_uc010wzf.1_Missense_Mutation_p.D345N|EPB41L3_uc010wzg.1_Missense_Mutation_p.D320N|EPB41L3_uc010dkr.2_Missense_Mutation_p.D440N NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 1048 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 TGGTCATGGTCAATGTCTGCA 0.448 77 57 --- --- --- --- PASS KLHL14 57565 broad.mit.edu 37 18 30321982 30321982 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr18:30321982C>A uc002kxm.1 - 3 1366 c.978G>T c.(976-978)TTG>TTT p.L326F KLHL14_uc010dmd.1_5'UTR NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 326 Kelch 1. cytosol|endoplasmic reticulum membrane ovary(1) 1 GCCCTCCAACCAATAACAGCA 0.433 56 35 --- --- --- --- PASS ZNF532 55205 broad.mit.edu 37 18 56585940 56585940 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr18:56585940G>C uc002lho.2 + 4 968 c.421G>C c.(421-423)GAC>CAC p.D141H ZNF532_uc002lhp.2_Missense_Mutation_p.D139H|ZNF532_uc010xeg.1_Missense_Mutation_p.D139H|ZNF532_uc002lhr.2_Missense_Mutation_p.D139H|ZNF532_uc002lhs.2_Missense_Mutation_p.D139H NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 GTTTGATGACGACGAGAAGAT 0.532 106 83 --- --- --- --- PASS ZNF557 79230 broad.mit.edu 37 19 7082904 7082904 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:7082904G>C uc002mgb.2 + 8 906 c.421G>C c.(421-423)GGA>CGA p.G141R ZNF557_uc002mga.2_Missense_Mutation_p.G148R|ZNF557_uc002mgc.2_Missense_Mutation_p.G148R NM_001044388 NP_001037853 Q8N988 ZN557_HUMAN zinc finger protein 557 isoform b 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung(535;0.179) GAATCATCTTGGAGCAACACT 0.373 39 104 --- --- --- --- PASS ACTL9 284382 broad.mit.edu 37 19 8808393 8808393 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:8808393C>T uc002mkl.2 - 1 780 c.659G>A c.(658-660)CGT>CAT p.R220H NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN actin-like 9 220 cytoplasm|cytoskeleton p.R220H(1) large_intestine(2)|pancreas(1) 3 CAGGTCCAGACGCTCCGTGGC 0.682 27 53 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9048969 9048969 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:9048969C>A uc002mkp.2 - 5 32866 c.32662G>T c.(32662-32664)GTG>TTG p.V10888L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10890 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTACTGATCACTGCCCTAGAA 0.498 62 129 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9071041 9071041 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:9071041G>A uc002mkp.2 - 3 16609 c.16405C>T c.(16405-16407)CCT>TCT p.P5469S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5471 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAGATATTAGGAGTTGATGTG 0.502 67 187 --- --- --- --- PASS ZNF878 729747 broad.mit.edu 37 19 12155941 12155941 + Missense_Mutation SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:12155941A>G uc002mta.1 - 5 416 c.416T>C c.(415-417)CTG>CCG p.L139P NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN zinc finger protein 878 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 TTTCTTCTTCAGTGTGTCATC 0.423 22 35 --- --- --- --- PASS EPS15L1 58513 broad.mit.edu 37 19 16514640 16514640 + Silent SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:16514640C>T uc002ndz.1 - 15 1536 c.1530G>A c.(1528-1530)CAG>CAA p.Q510Q EPS15L1_uc002ndx.2_Silent_p.Q510Q|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.Q400Q|EPS15L1_uc010xpf.1_Silent_p.Q413Q|EPS15L1_uc002nea.1_Silent_p.Q510Q|EPS15L1_uc010eah.1_Silent_p.Q510Q|EPS15L1_uc002neb.1_Silent_p.Q356Q|EPS15L1_uc002nec.1_Silent_p.Q510Q NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 510 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 GGGTTTCCTCCTGCTGCAATC 0.512 46 129 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22940575 22940575 + Silent SNP T C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:22940575T>C uc010xrh.1 - 5 1863 c.1863A>G c.(1861-1863)AAA>AAG p.K621K NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GGCTAAAAGCTTTGCCACATT 0.378 3 161 --- --- --- --- PASS CD22 933 broad.mit.edu 37 19 35823511 35823511 + Silent SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:35823511C>T uc010edt.2 + 3 173 c.96C>T c.(94-96)CTC>CTT p.L32L CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Silent_p.L32L|CD22_uc010edv.2_Silent_p.L32L|CD22_uc002nzb.3_Silent_p.L32L NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 32 Extracellular (Potential).|Ig-like V-type. cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CTGAAACCCTCTACGCCTGGG 0.502 33 97 --- --- --- --- PASS ATP4A 495 broad.mit.edu 37 19 36050967 36050967 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:36050967G>T uc002oal.1 - 7 825 c.796C>A c.(796-798)CAG>AAG p.Q266K ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 266 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) ACCAGGCCCTGCACGGTGCCT 0.652 23 53 --- --- --- --- PASS NPHS1 4868 broad.mit.edu 37 19 36322217 36322217 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:36322217C>A uc002oby.2 - 26 3368 c.3368G>T c.(3367-3369)CGG>CTG p.R1123L NPHS1_uc010eem.1_RNA NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 1123 Cytoplasmic (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTGAGTGTCCCGCTCTCCTGT 0.612 38 96 --- --- --- --- PASS C19orf46 163183 broad.mit.edu 37 19 36499208 36499208 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:36499208C>T uc002ocq.1 - 2 279 c.190G>A c.(190-192)GGG>AGG p.G64R C19orf46_uc002ocr.1_Missense_Mutation_p.G64R|C19orf46_uc002ocs.1_Missense_Mutation_p.G64R|C19orf46_uc010een.1_Intron NM_001039876 NP_001034965 Q8N205 SYNE4_HUMAN hypothetical protein LOC163183 64 Cytoplasmic (Potential). establishment of epithelial cell apical/basal polarity integral to nuclear outer membrane actin binding ovary(1) 1 all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCCCTTGGCCCACCCTGGAAG 0.657 14 55 --- --- --- --- PASS HNRNPL 3191 broad.mit.edu 37 19 39329235 39329235 + Silent SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:39329235G>A uc010xul.1 - 10 1370 c.1359C>T c.(1357-1359)GTC>GTT p.V453V HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Silent_p.V109V|HNRNPL_uc002ojo.1_Silent_p.V31V|HNRNPL_uc002ojk.2_Silent_p.V109V|HNRNPL_uc002ojl.2_Silent_p.V109V|HNRNPL_uc010xum.1_Silent_p.V320V NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 453 RRM 3. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GCTGCTTGGAGACACTGCAGC 0.537 15 36 --- --- --- --- PASS LRFN1 57622 broad.mit.edu 37 19 39805491 39805491 + Silent SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:39805491G>A uc002okw.2 - 1 486 c.486C>T c.(484-486)TCC>TCT p.S162S NM_020862 NP_065913 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III 162 Extracellular (Potential). cell junction|integral to membrane|postsynaptic density|postsynaptic membrane ovary(2) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CCTCCACGGTGGACAGGAAGG 0.652 5 13 --- --- --- --- PASS SAMD4B 55095 broad.mit.edu 37 19 39847546 39847546 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:39847546G>A uc002olb.2 + 5 1048 c.13G>A c.(13-15)GAC>AAC p.D5N SAMD4B_uc002ola.2_Missense_Mutation_p.D5N NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 5 protein binding 0 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GATGTTCCGAGACCAGGTGGG 0.657 5 31 --- --- --- --- PASS LTBP4 8425 broad.mit.edu 37 19 41120238 41120238 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:41120238G>C uc002ooh.1 + 22 2899 c.2899G>C c.(2899-2901)GAG>CAG p.E967Q LTBP4_uc002oog.1_Missense_Mutation_p.E930Q|LTBP4_uc002ooi.1_Missense_Mutation_p.E900Q|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Missense_Mutation_p.E187Q|LTBP4_uc002ool.1_Missense_Mutation_p.E65Q|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_5'UTR NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 967 Cys-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CGAATGTCGCGAGCGAGGCCC 0.587 18 42 --- --- --- --- PASS LTBP4 8425 broad.mit.edu 37 19 41120242 41120242 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:41120242G>T uc002ooh.1 + 22 2903 c.2903G>T c.(2902-2904)CGA>CTA p.R968L LTBP4_uc002oog.1_Missense_Mutation_p.R931L|LTBP4_uc002ooi.1_Missense_Mutation_p.R901L|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Missense_Mutation_p.R188L|LTBP4_uc002ool.1_Missense_Mutation_p.R66L|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_5'UTR NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 968 Cys-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGTCGCGAGCGAGGCCCAGCC 0.607 18 40 --- --- --- --- PASS LTBP4 8425 broad.mit.edu 37 19 41120337 41120337 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:41120337G>A uc002ooh.1 + 22 2998 c.2998G>A c.(2998-3000)GAG>AAG p.E1000K LTBP4_uc002oog.1_Missense_Mutation_p.E963K|LTBP4_uc002ooi.1_Missense_Mutation_p.E933K|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Missense_Mutation_p.E220K|LTBP4_uc002ool.1_Missense_Mutation_p.E98K|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_5'UTR NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 1000 Cys-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CGCGGGCCCCGAGGGCACCTG 0.716 5 17 --- --- --- --- PASS CYP2A13 1553 broad.mit.edu 37 19 41596057 41596057 + Missense_Mutation SNP A T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:41596057A>T uc002opt.2 + 3 458 c.449A>T c.(448-450)CAG>CTG p.Q150L NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 150 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) GAACGCATCCAGGAGGAGGCG 0.692 18 75 --- --- --- --- PASS ERF 2077 broad.mit.edu 37 19 42752689 42752689 + Silent SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:42752689G>C uc002ote.3 - 4 1733 c.1575C>G c.(1573-1575)CTC>CTG p.L525L ERF_uc002otd.3_Silent_p.L256L NM_006494 NP_006485 P50548 ERF_HUMAN Ets2 repressor factor 525 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity lung(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Prostate(69;0.00682) GCCTTGGGGTGAGGGGCCCCC 0.711 13 45 --- --- --- --- PASS ZNF229 7772 broad.mit.edu 37 19 44933863 44933863 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:44933863G>C uc002oze.1 - 6 1527 c.1093C>G c.(1093-1095)CTT>GTT p.L365V ZNF229_uc010ejk.1_Missense_Mutation_p.L19V|ZNF229_uc010ejl.1_Missense_Mutation_p.L359V NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 365 C2H2-type 2. 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) TGATGAATAAGAAGAACCGAT 0.493 69 219 --- --- --- --- PASS SYMPK 8189 broad.mit.edu 37 19 46328447 46328447 + Silent SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:46328447C>T uc002pdn.2 - 18 2717 c.2472G>A c.(2470-2472)CTG>CTA p.L824L SYMPK_uc002pdo.1_Silent_p.L824L|SYMPK_uc002pdp.1_Silent_p.L824L NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 824 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CAATGACCCTCAGCACCGTCC 0.647 42 70 --- --- --- --- PASS SIGLEC10 89790 broad.mit.edu 37 19 51920496 51920496 + Silent SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:51920496C>A uc002pwo.2 - 2 877 c.261G>T c.(259-261)CGG>CGT p.R87R SIGLEC10_uc002pwp.2_Silent_p.R87R|SIGLEC10_uc002pwq.2_Silent_p.R87R|SIGLEC10_uc002pwr.2_Silent_p.R87R|SIGLEC10_uc010ycy.1_Silent_p.R87R|SIGLEC10_uc010ycz.1_Silent_p.R87R|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Silent_p.R71R NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 87 Extracellular (Potential).|Ig-like V-type. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GGAATCGGCCCCGGGTGCTCA 0.577 34 105 --- --- --- --- PASS SIGLEC10 89790 broad.mit.edu 37 19 51920497 51920497 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:51920497C>A uc002pwo.2 - 2 876 c.260G>T c.(259-261)CGG>CTG p.R87L SIGLEC10_uc002pwp.2_Missense_Mutation_p.R87L|SIGLEC10_uc002pwq.2_Missense_Mutation_p.R87L|SIGLEC10_uc002pwr.2_Missense_Mutation_p.R87L|SIGLEC10_uc010ycy.1_Missense_Mutation_p.R87L|SIGLEC10_uc010ycz.1_Missense_Mutation_p.R87L|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Missense_Mutation_p.R71L NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 87 Extracellular (Potential).|Ig-like V-type. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GAATCGGCCCCGGGTGCTCAT 0.572 35 105 --- --- --- --- PASS ZNF616 90317 broad.mit.edu 37 19 52618244 52618244 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:52618244C>A uc002pym.2 - 4 2456 c.2173G>T c.(2173-2175)GCC>TCC p.A725S ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 725 C2H2-type 20. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) CGCCCAAAGGCTTTGCCACAT 0.393 5 275 --- --- --- --- PASS ZNF761 388561 broad.mit.edu 37 19 53959386 53959386 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:53959386G>C uc010eqp.2 + 7 2083 c.1625G>C c.(1624-1626)AGA>ACA p.R542T ZNF761_uc010ydy.1_Missense_Mutation_p.R488T|ZNF761_uc002qbt.1_Missense_Mutation_p.R488T NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 542 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) TGCCATCGTAGACTTCATTCT 0.448 6 180 --- --- --- --- PASS HSPBP1 23640 broad.mit.edu 37 19 55785929 55785929 + Silent SNP C A A rs141770023 byFrequency TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:55785929C>A uc002qjx.2 - 3 725 c.615G>T c.(613-615)GCG>GCT p.A205A HSPBP1_uc002qjy.2_Silent_p.A159A|HSPBP1_uc002qkb.2_Silent_p.A159A|HSPBP1_uc002qka.2_Silent_p.A159A|HSPBP1_uc002qkd.2_Silent_p.A159A|HSPBP1_uc002qkc.2_Silent_p.A159A NM_012267 NP_036399 Q9NZL4 HPBP1_HUMAN hsp70-interacting protein 162 ARM 1. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding enzyme inhibitor activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) ACCGCAGTCCCGCAGCCCCCG 0.662 8 20 --- --- --- --- PASS ZNF787 126208 broad.mit.edu 37 19 56600255 56600255 + Missense_Mutation SNP A T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:56600255A>T uc010eth.1 - 3 405 c.286T>A c.(286-288)TGC>AGC p.C96S NM_001002836 NP_001002836 Q6DD87 ZN787_HUMAN zinc finger protein 787 96 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0559) CAGTCGGCGCAGGCGTTGGGC 0.627 5 14 --- --- --- --- PASS VN1R1 57191 broad.mit.edu 37 19 57966810 57966810 + Missense_Mutation SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr19:57966810G>T uc002qos.1 - 1 1045 c.1045C>A c.(1045-1047)CTG>ATG p.L349M ZNF547_uc002qpm.3_Intron NM_020633 NP_065684 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 349 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) ATGACAACCAGATTAGGAAAG 0.378 31 67 --- --- --- --- PASS PLCB4 5332 broad.mit.edu 37 20 9438113 9438113 + Missense_Mutation SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr20:9438113C>G uc002wnf.2 + 32 3149 c.3013C>G c.(3013-3015)CTG>GTG p.L1005V PLCB4_uc010gbw.1_Missense_Mutation_p.L1005V|PLCB4_uc010gbx.2_Missense_Mutation_p.L1017V|PLCB4_uc002wne.2_Missense_Mutation_p.L1005V|PLCB4_uc002wnh.2_Missense_Mutation_p.L852V NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 1005 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 AATTCAGACGCTGACATCAGA 0.348 40 129 --- --- --- --- PASS SEL1L2 80343 broad.mit.edu 37 20 13869147 13869147 + Missense_Mutation SNP A C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr20:13869147A>C uc010gcf.2 - 6 643 c.561T>G c.(559-561)TTT>TTG p.F187L SEL1L2_uc002woq.3_Missense_Mutation_p.F48L|SEL1L2_uc010zrl.1_Missense_Mutation_p.F187L|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 187 Extracellular (Potential).|Sel1-like 3. integral to membrane binding ovary(2) 2 AAGAAGACAAAAATCCTAATG 0.284 16 48 --- --- --- --- PASS KIF16B 55614 broad.mit.edu 37 20 16492131 16492131 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr20:16492131C>A uc002wpg.1 - 6 646 c.488G>T c.(487-489)CGG>CTG p.R163L KIF16B_uc010gch.1_Missense_Mutation_p.R163L|KIF16B_uc010gci.1_Missense_Mutation_p.R163L|KIF16B_uc010gcj.1_Missense_Mutation_p.R163L NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 163 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 TGACTTCCGCCGAAGTAGATC 0.333 57 129 --- --- --- --- PASS DSTN 11034 broad.mit.edu 37 20 17587741 17587741 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr20:17587741G>A uc002wpr.2 + 4 703 c.448G>A c.(448-450)GAA>AAA p.E150K DSTN_uc002wpq.2_Missense_Mutation_p.E133K|DSTN_uc010gck.2_Missense_Mutation_p.E133K NM_006870 NP_006861 P60981 DEST_HUMAN destrin isoform a 150 ADF-H. actin filament severing|actin polymerization or depolymerization actin binding large_intestine(1)|skin(1) 2 TTGTATTGCTGAAAAGTTAGG 0.373 5 228 --- --- --- --- PASS COMMD7 149951 broad.mit.edu 37 20 31291229 31291229 + Silent SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr20:31291229C>A uc002wya.3 - 9 1175 c.558G>T c.(556-558)CTG>CTT p.L186L COMMD7_uc010ged.2_Silent_p.L185L|COMMD7_uc002wyb.2_3'UTR NM_053041 NP_444269 Q86VX2 COMD7_HUMAN COMM domain containing 7 isoform 1 186 COMM. negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway NF-kappaB binding breast(1) 1 CCATCTCGTGCAGGAAGCTGT 0.493 21 71 --- --- --- --- PASS SUN5 140732 broad.mit.edu 37 20 31577456 31577456 + Nonsense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr20:31577456C>A uc002wyi.2 - 9 676 c.583G>T c.(583-585)GAA>TAA p.E195* NM_080675 NP_542406 Q8TC36 SUN5_HUMAN sperm associated antigen 4-like 195 spermatogenesis skin(1) 1 TCTGGCTTTTCGATGTAATCT 0.488 16 61 --- --- --- --- PASS IFT52 51098 broad.mit.edu 37 20 42271136 42271136 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr20:42271136G>A uc002xkw.2 + 13 1260 c.1138G>A c.(1138-1140)GAA>AAA p.E380K IFT52_uc002xky.2_Missense_Mutation_p.E380K|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.E356K|IFT52_uc002xkz.2_Intron NM_016004 NP_057088 Q9Y366 IFT52_HUMAN intraflagellar transport 52 homolog 380 intraflagellar transport particle B|microtubule-based flagellum protein C-terminus binding ovary(2) 2 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) AGAAGACCTGGAATTTTATGT 0.413 37 115 --- --- --- --- PASS CTSA 5476 broad.mit.edu 37 20 44521454 44521454 + Missense_Mutation SNP T G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr20:44521454T>G uc002xqj.3 + 6 1009 c.535T>G c.(535-537)TAT>GAT p.Y179D NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqh.2_Missense_Mutation_p.Y197D|CTSA_uc002xqi.2_RNA|CTSA_uc010zxi.1_Missense_Mutation_p.Y180D|CTSA_uc002xqk.3_Missense_Mutation_p.Y179D NM_001127695 NP_001121167 P10619 PPGB_HUMAN cathepsin A isoform b precursor 179 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) CGGGGAGAGCTATGCTGGCAT 0.562 35 69 --- --- --- --- PASS STX16 8675 broad.mit.edu 37 20 57251323 57251323 + Silent SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr20:57251323C>G uc002xzi.2 + 9 1689 c.954C>G c.(952-954)GTC>GTG p.V318V STX16_uc010zzq.1_Silent_p.V132V|STX16_uc002xzk.2_Silent_p.V301V|STX16_uc002xzm.2_Silent_p.V314V|STX16_uc002xzj.2_Silent_p.V297V|STX16_uc002xzl.2_Silent_p.V132V NM_001001433 NP_001001433 O14662 STX16_HUMAN syntaxin 16 isoform a 318 Helical; Anchor for type IV membrane protein; (Potential). intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity ovary(1) 1 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) TCATTGTTGTCCTCGTTGGCG 0.493 64 109 --- --- --- --- PASS COL20A1 57642 broad.mit.edu 37 20 61936824 61936824 + Silent SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr20:61936824G>T uc011aau.1 + 4 349 c.249G>T c.(247-249)GGG>GGT p.G83G COL20A1_uc011aav.1_5'Flank NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 83 Fibronectin type-III 1. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) CCACAGTGGGGGGCCTGAGCC 0.612 3 20 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 42064818 42064818 + Silent SNP G T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr21:42064818G>T uc002yyq.1 - 3 878 c.426C>A c.(424-426)GTC>GTA p.V142V DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 142 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGCACTTGAAGACCGCAACAT 0.522 72 62 --- --- --- --- PASS TOP3B 8940 broad.mit.edu 37 22 22316909 22316909 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr22:22316909C>A uc002zvs.2 - 13 1852 c.1417G>T c.(1417-1419)GGT>TGT p.G473C TOP3B_uc010gtm.1_Missense_Mutation_p.G18C|TOP3B_uc002zvr.2_Missense_Mutation_p.G198C|TOP3B_uc010gtl.2_Missense_Mutation_p.G473C|TOP3B_uc002zvt.3_Missense_Mutation_p.G473C NM_003935 NP_003926 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 473 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding kidney(1) 1 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) AAGGCATCACCCCGCTGGCAA 0.642 29 68 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 22453448 22453448 + RNA SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr22:22453448C>A uc011aim.1 + 7 c.581C>A Parts of antibodies, mostly variable regions. 0 TACCAGCAGACCCCAGGCCAG 0.577 43 132 --- --- --- --- PASS CYTSA 23384 broad.mit.edu 37 22 24718188 24718188 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr22:24718188C>T uc002zzw.2 + 5 1547 c.1240C>T c.(1240-1242)CTC>TTC p.L414F CYTSA_uc002zzv.3_Missense_Mutation_p.L414F|CYTSA_uc011ajq.1_Missense_Mutation_p.L414F NM_015330 NP_056145 Q69YQ0 CYTSA_HUMAN cytospin A 414 Potential. cell cycle|cell division 0 AAGTGAGGAACTCCAGGCAAC 0.502 52 88 --- --- --- --- PASS PATZ1 23598 broad.mit.edu 37 22 31722878 31722878 + Nonstop_Mutation SNP C G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr22:31722878C>G uc003akq.2 - 5 2724 c.2063G>C c.(2062-2064)TGA>TCA p.*688S PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Nonstop_Mutation_p.*642S NM_014323 NP_055138 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 688 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) soft_tissue(2) 2 GCAGCTGCCTCATTTCCCTTC 0.527 25 47 --- --- --- --- PASS ATF4 468 broad.mit.edu 37 22 39917481 39917481 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr22:39917481G>C uc003axz.2 + 2 311 c.31G>C c.(31-33)GTG>CTG p.V11L ATF4_uc011aol.1_5'UTR|ATF4_uc003aya.2_Missense_Mutation_p.V11L NM_182810 NP_877962 P18848 ATF4_HUMAN activating transcription factor 4 11 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Melanoma(58;0.04) GAGCAGCGAGGTGTTGGTGGG 0.527 38 177 --- --- --- --- PASS TCF20 6942 broad.mit.edu 37 22 42607698 42607698 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr22:42607698C>T uc003bcj.1 - 1 3748 c.3614G>A c.(3613-3615)GGA>GAA p.G1205E TCF20_uc003bck.1_Missense_Mutation_p.G1205E|TCF20_uc003bnt.2_Missense_Mutation_p.G1205E NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 1205 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 ACTGGACATTCCTGGAGGACC 0.493 48 75 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31196890 31196890 + Silent SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chrX:31196890G>A uc004dda.1 - 70 10363 c.10119C>T c.(10117-10119)GCC>GCT p.A3373A DMD_uc004dcq.1_Silent_p.A644A|DMD_uc004dcr.1_Silent_p.A913A|DMD_uc004dcs.1_Silent_p.A913A|DMD_uc004dct.1_Silent_p.A913A|DMD_uc004dcu.1_Silent_p.A913A|DMD_uc004dcv.1_Silent_p.A913A|DMD_uc004dcw.2_Silent_p.A2029A|DMD_uc004dcx.2_Silent_p.A2032A|DMD_uc004dcz.2_Silent_p.A3250A|DMD_uc004dcy.1_Silent_p.A3369A|DMD_uc004ddb.1_Silent_p.A3365A|DMD_uc004dcm.1_Silent_p.A305A|DMD_uc004dcn.1_Silent_p.A305A|DMD_uc004dco.1_Silent_p.A305A|DMD_uc004dcp.1_Silent_p.A305A|DMD_uc011mkb.1_Silent_p.A305A|DMD_uc010ngm.2_Silent_p.A305A NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3373 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTAGTACCTTGGCAAAGTCTC 0.438 67 42 --- --- --- --- PASS EFHC2 80258 broad.mit.edu 37 X 44109544 44109544 + Missense_Mutation SNP G A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chrX:44109544G>A uc004dgb.3 - 6 844 c.754C>T c.(754-756)CAT>TAT p.H252Y NM_025184 NP_079460 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 252 DM10 2. calcium ion binding breast(3)|ovary(2)|central_nervous_system(1) 6 AAGAAGTAATGCAGGATGAGT 0.443 24 22 --- --- --- --- PASS CACNA1F 778 broad.mit.edu 37 X 49075166 49075166 + Missense_Mutation SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chrX:49075166C>T uc004dnb.2 - 23 2857 c.2795G>A c.(2794-2796)CGC>CAC p.R932H CACNA1F_uc010nip.2_Missense_Mutation_p.R921H NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 932 III.|Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) GAAGGAGCCGCGGTGCAGGAA 0.587 4 4 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50054016 50054016 + Silent SNP A G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chrX:50054016A>G uc004dox.3 + 6 3145 c.2847A>G c.(2845-2847)TTA>TTG p.L949L CCNB3_uc004doy.2_Silent_p.L949L|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 949 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) AGGAGCCATTAGCCTTACAAG 0.483 3 134 --- --- --- --- PASS GNL3L 54552 broad.mit.edu 37 X 54565513 54565513 + Missense_Mutation SNP G C C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chrX:54565513G>C uc004dth.1 + 3 199 c.60G>C c.(58-60)AAG>AAC p.K20N GNL3L_uc004dti.2_RNA NM_019067 NP_061940 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 20 Required for nucleolar localization. KK->AA: Loss of nuclear location; when associated with 9-A-A-10. Loss of nuclear location; when associated with 34-A-A-35. ribosome biogenesis nucleolus GTP binding ovary(1) 1 GCCACAAGAAGATAAGTTGGC 0.433 10 7 --- --- --- --- PASS MORF4L2 9643 broad.mit.edu 37 X 102931645 102931645 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chrX:102931645C>A uc004ekw.2 - 4 1543 c.311G>T c.(310-312)CGG>CTG p.R104L MORF4L2_uc004ela.2_Missense_Mutation_p.R104L|MORF4L2_uc004ekx.2_Missense_Mutation_p.R104L|MORF4L2_uc004elb.2_Missense_Mutation_p.R104L|MORF4L2_uc004eky.2_Missense_Mutation_p.R104L|MORF4L2_uc010nos.2_Missense_Mutation_p.R104L|MORF4L2_uc004ekz.2_Missense_Mutation_p.R104L|MORF4L2_uc011mry.1_Missense_Mutation_p.R104L|MORF4L2_uc011mrz.1_Missense_Mutation_p.R104L|MORF4L2_uc004elc.2_Missense_Mutation_p.R104L|MORF4L2_uc004elf.2_Missense_Mutation_p.R104L|MORF4L2_uc004ele.2_Missense_Mutation_p.R104L|MORF4L2_uc011msa.1_Missense_Mutation_p.R104L|MORF4L2_uc011msb.1_Missense_Mutation_p.R104L|MORF4L2_uc011msc.1_Missense_Mutation_p.R104L|MORF4L2_uc011msd.1_Missense_Mutation_p.R104L|MORF4L2_uc004eld.2_Missense_Mutation_p.R104L NM_012286 NP_036418 Q15014 MO4L2_HUMAN mortality factor 4 like 2 104 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding 0 GGGGTCTGCCCGGGCCCTTTT 0.507 134 70 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135428802 135428802 + Silent SNP C T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chrX:135428802C>T uc004ezu.1 + 6 3228 c.2937C>T c.(2935-2937)TCC>TCT p.S979S GPR112_uc010nsb.1_Silent_p.S774S|GPR112_uc010nsc.1_Silent_p.S746S NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 979 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CCAGTTTCTCCACTACCCCTA 0.512 162 94 --- --- --- --- PASS FATE1 89885 broad.mit.edu 37 X 150891157 150891157 + Missense_Mutation SNP C A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chrX:150891157C>A uc004fex.2 + 5 562 c.478C>A c.(478-480)CAC>AAC p.H160N NM_033085 NP_149076 Q969F0 FATE1_HUMAN fetal and adult testis expressed transcript 160 endoplasmic reticulum|integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CACCTGGCGCCACAGGGAGAC 0.647 46 24 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80530563 80530564 + Frame_Shift_Ins INS - T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr2:80530563_80530564insT uc002sok.1 - 2 651_652 c.381_382insA c.(379-384)CAACTGfs p.Q127fs 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 1 127_128 LRR 2.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GTGTTGGGCAGTTGGGTGATCT 0.604 HNSCC(69;0.2) 181 132 --- --- --- --- ENPEP 2028 broad.mit.edu 37 4 111441213 111441213 + Frame_Shift_Del DEL G - - TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr4:111441213delG uc003iab.3 + 9 1901 c.1559delG c.(1558-1560)TGGfs p.W520fs NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 520 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TCTGATTTTTGGGCAGCACTG 0.323 69 30 --- --- --- --- PCDHB12 56124 broad.mit.edu 37 5 140590646 140590646 + Frame_Shift_Del DEL G - - TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr5:140590646delG uc003liz.2 + 1 2356 c.2167delG c.(2167-2169)GGTfs p.G723fs PCDHB12_uc011dak.1_Frame_Shift_Del_p.G386fs|PCDHB13_uc003lja.1_5'Flank NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 723 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCCCCGGTCGGTCGCTGCTC 0.662 106 58 --- --- --- --- PRIM2 5558 broad.mit.edu 37 6 57512916 57512917 + Splice_Site INS - T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr6:57512916_57512917insT uc003pdx.2 + 16 1839 c.1752_splice c.e16+1 NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) ttttttttcaattttttttgta 0.000 4 2 --- --- --- --- WDR60 55112 broad.mit.edu 37 7 158704301 158704302 + Frame_Shift_Ins INS - T T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr7:158704301_158704302insT uc003woe.3 + 12 1679_1680 c.1521_1522insT c.(1519-1524)CTCTTGfs p.L507fs WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Frame_Shift_Ins_p.L139fs NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 507_508 ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) CTTTCTCTCTCTTGGATCTACC 0.322 77 55 --- --- --- --- NPS 594857 broad.mit.edu 37 10 129350870 129350871 + Frame_Shift_Ins INS - A A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr10:129350870_129350871insA uc001ljx.1 + 3 257_258 c.237_238insA c.(235-240)ATGAAAfs p.M79fs NM_001030013 NP_001025184 P0C0P6 NPS_HUMAN neuropeptide S precursor 79_80 neuropeptide signaling pathway extracellular region 0 GCACAGGGATGAAAAAAACTTC 0.411 174 121 --- --- --- --- LOC646813 646813 broad.mit.edu 37 11 50378075 50378075 + RNA DEL G - - TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr11:50378075delG uc001nhe.2 + 5 c.705delG LOC646813_uc001nhf.1_RNA|LOC646813_uc001nhg.1_RNA|LOC646813_uc001nhh.1_RNA|LOC646813_uc010rib.1_RNA NR_024504 Homo sapiens mRNA for hypothetical protein, partial sequence, clone:Hsa11-digit09-11-09-R. 0 AATATTTTCTGGAAGACTGCA 0.398 133 61 --- --- --- --- OR4D5 219875 broad.mit.edu 37 11 123810461 123810461 + Frame_Shift_Del DEL G - - TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr11:123810461delG uc001pzk.1 + 1 138 c.138delG c.(136-138)GTGfs p.V46fs NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 46 Helical; Name=1; (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) TTCTTATTGTGGTCATAGTGA 0.448 119 97 --- --- --- --- OR8B4 283162 broad.mit.edu 37 11 124294406 124294407 + Frame_Shift_Ins INS - G G TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chr11:124294406_124294407insG uc010sak.1 - 1 361_362 c.361_362insC c.(361-363)CGCfs p.R121fs NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GGCCACATAGCGATCATAGGCC 0.455 62 65 --- --- --- --- IL9R 3581 broad.mit.edu 37 X 155239822 155239827 + In_Frame_Del DEL CAACAA - - rs150178903 byFrequency TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 66e35f68-f4db-46ee-876e-e770ea616ef3 8e493b75-0f2c-45b3-a829-88633e8fc3f2 g.chrX:155239822_155239827delCAACAA uc004fnv.1 + 9 1493_1498 c.1314_1319delCAACAA c.(1312-1320)AGCAACAAC>AGC p.NN441del IL9R_uc004fnu.1_3'UTR NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 441_442 Poly-Asn.|Cytoplasmic (Potential). cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) gcagcagcagcaacaacaacaACTAC 0.519 4 2 --- --- --- ---