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 VPS13D 55187 broad.mit.edu 37 1 12318100 12318100 + Silent SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:12318100A>G uc001atv.2 + 10 1191 c.1050A>G c.(1048-1050)GTA>GTG p.V350V VPS13D_uc001atw.2_Silent_p.V350V NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 350 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) GTGATGCTGTATCTTACACTG 0.428 39 36 --- --- --- --- PASS LAPTM5 7805 broad.mit.edu 37 1 31212756 31212756 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:31212756A>G uc001bsc.2 - 4 378 c.287T>C c.(286-288)CTG>CCG p.L96P NM_006762 NP_006753 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 96 Helical; (Potential). transport integral to plasma membrane|lysosomal membrane 0 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) TTGCAGGGACAGGAAGGGCAG 0.607 8 13 --- --- --- --- PASS ZSCAN20 7579 broad.mit.edu 37 1 33945088 33945088 + Nonsense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:33945088G>T uc001bxj.3 + 2 366 c.199G>T c.(199-201)GAG>TAG p.E67* ZSCAN20_uc001bxk.2_Nonsense_Mutation_p.E67*|ZSCAN20_uc009vui.2_Nonsense_Mutation_p.E67* NM_145238 NP_660281 P17040 ZSC20_HUMAN zinc finger protein 31 67 SCAN box. viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TGGACCCCACGAGGCCTTCAG 0.612 18 36 --- --- --- --- PASS TNNI3K 51086 broad.mit.edu 37 1 74801765 74801765 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:74801765A>G uc001dgf.1 + 7 665 c.614A>G c.(613-615)CAC>CGC p.H205R TNNI3K_uc001dgc.1_Missense_Mutation_p.H306R|TNNI3K_uc001dgd.2_Missense_Mutation_p.H306R|TNNI3K_uc001dge.1_Missense_Mutation_p.H306R NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 205 ANK 5. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 AGACCCCTCCACCTAGCATCT 0.358 17 31 --- --- --- --- PASS EVI5 7813 broad.mit.edu 37 1 93160930 93160930 + Silent SNP A C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:93160930A>C uc001dox.2 - 7 988 c.978T>G c.(976-978)ACT>ACG p.T326T EVI5_uc010otf.1_Silent_p.T326T|EVI5_uc001doy.1_5'Flank NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 326 Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) TAAGAAAGATAGTCAGAAACC 0.373 23 66 --- --- --- --- PASS CCDC18 343099 broad.mit.edu 37 1 93730454 93730454 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:93730454C>A uc001dpq.2 + 27 4403 c.4235C>A c.(4234-4236)ACT>AAT p.T1412N CCDC18_uc001dpr.1_Missense_Mutation_p.T207N|uc001dps.2_Intron NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 1293 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) GCATTACTTACTAAAGTAAGT 0.303 6 32 --- --- --- --- PASS ABCA4 24 broad.mit.edu 37 1 94473855 94473855 + Splice_Site SNP T C C rs61750637 TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:94473855T>C uc001dqh.2 - 42 5940 c.5836_splice c.e42-1 p.I1946_splice ABCA4_uc001dqi.1_Splice_Site_p.I65_splice NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TGGATAAATCTGCAAGATACG 0.542 9 25 --- --- --- --- PASS PRPF38B 55119 broad.mit.edu 37 1 109242502 109242502 + Missense_Mutation SNP A T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:109242502A>T uc001dvv.3 + 6 1783 c.1501A>T c.(1501-1503)AGT>TGT p.S501C PRPF38B_uc001dvw.3_Missense_Mutation_p.S390C|PRPF38B_uc010ouz.1_Missense_Mutation_p.S304C NM_018061 NP_060531 Q5VTL8 PR38B_HUMAN PRP38 pre-mRNA processing factor 38 (yeast) 501 mRNA processing|RNA splicing spliceosomal complex 0 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) TAGAAAGCGTAGTAGAAGCAA 0.408 47 187 --- --- --- --- PASS CD101 9398 broad.mit.edu 37 1 117576499 117576499 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:117576499A>G uc010oxb.1 + 9 2900 c.2842A>G c.(2842-2844)AGG>GGG p.R948G CD101_uc009whd.2_Missense_Mutation_p.R948G|CD101_uc010oxc.1_Missense_Mutation_p.R948G|CD101_uc010oxd.1_Missense_Mutation_p.R886G NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 948 Extracellular (Potential). cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GCTTCCTTCCAGGATCTGCTC 0.478 6 50 --- --- --- --- PASS TTF2 8458 broad.mit.edu 37 1 117631571 117631571 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:117631571A>G uc001egy.2 + 13 2329 c.2309A>G c.(2308-2310)CAA>CGA p.Q770R NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 770 Helicase ATP-binding. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) ACCCCCATTCAAAACAACTTA 0.438 43 63 --- --- --- --- PASS ITGA10 8515 broad.mit.edu 37 1 145537199 145537199 + Silent SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:145537199C>T uc001eoa.2 + 19 2446 c.2370C>T c.(2368-2370)GGC>GGT p.G790G NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.G659G|ITGA10_uc009wiw.2_Silent_p.G647G|ITGA10_uc010oyw.1_Silent_p.G735G NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 790 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGGATTGTGGCCCTGACAATG 0.493 11 87 --- --- --- --- PASS TPM3 7170 broad.mit.edu 37 1 154145418 154145418 + Nonsense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:154145418C>A uc001fec.1 - 5 647 c.532G>T c.(532-534)GAA>TAA p.E178* TPM3_uc001fdx.1_5'Flank|TPM3_uc010pei.1_Nonsense_Mutation_p.E51*|TPM3_uc001fdy.1_Nonsense_Mutation_p.E141*|TPM3_uc001fdz.1_Nonsense_Mutation_p.E141*|TPM3_uc001fea.1_Nonsense_Mutation_p.E141*|TPM3_uc001feb.1_Nonsense_Mutation_p.E141*|TPM3_uc010pej.1_Nonsense_Mutation_p.E74*|TPM3_uc009wor.2_Intron|TPM3_uc001fed.1_Nonsense_Mutation_p.E141* NM_152263 NP_689476 P06753 TPM3_HUMAN tropomyosin 3 isoform 1 177 By similarity. cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/ALK(33) haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1) 34 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) TCTGTGCGTTCCAAGTCTCCT 0.473 T NTRK1|ALK papillary thyroid|ALCL 38 131 --- --- --- --- PASS CD5L 922 broad.mit.edu 37 1 157805945 157805945 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:157805945G>T uc001frk.3 - 3 199 c.56C>A c.(55-57)GCG>GAG p.A19E NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 19 apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AGATGGAGACGCTGCAAAGAG 0.592 9 33 --- --- --- --- PASS OR10T2 128360 broad.mit.edu 37 1 158368446 158368446 + Missense_Mutation SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:158368446C>G uc010pih.1 - 1 811 c.811G>C c.(811-813)GAT>CAT p.D271H NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 271 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) ACCAACTGATCCTTGTCTGAG 0.473 15 46 --- --- --- --- PASS DARC 2532 broad.mit.edu 37 1 159175948 159175948 + Missense_Mutation SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:159175948G>A uc001fto.2 + 2 959 c.719G>A c.(718-720)GGC>GAC p.G240D DARC_uc001ftp.3_Missense_Mutation_p.G242D NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 240 Cytoplasmic (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) ATGGGGCCAGGCCCCTGGATG 0.537 30 104 --- --- --- --- PASS IGSF8 93185 broad.mit.edu 37 1 160062403 160062403 + Silent SNP A T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:160062403A>T uc001fva.2 - 5 1440 c.1395T>A c.(1393-1395)TCT>TCA p.S465S IGSF8_uc001fuz.2_Silent_p.S465S|IGSF8_uc009wtf.2_Silent_p.S465S NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 465 Ig-like C2-type 4.|Extracellular (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CACCCCGCACAGAGATGTTGC 0.662 22 7 --- --- --- --- PASS SELP 6403 broad.mit.edu 37 1 169581631 169581631 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:169581631C>T uc001ggi.3 - 6 850 c.785G>A c.(784-786)TGC>TAC p.C262Y SELP_uc001ggh.2_Missense_Mutation_p.C97Y|SELP_uc009wvr.2_Missense_Mutation_p.C262Y NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 262 Extracellular (Potential).|Sushi 2. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CAGGGGTGGGCACTGGGCAGC 0.473 19 65 --- --- --- --- PASS C1orf9 51430 broad.mit.edu 37 1 172520726 172520726 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:172520726A>G uc001giq.3 + 2 453 c.137A>G c.(136-138)AAC>AGC p.N46S C1orf9_uc010pmm.1_Missense_Mutation_p.N46S|C1orf9_uc009wwd.2_Missense_Mutation_p.N46S|C1orf9_uc010pmn.1_Missense_Mutation_p.N46S|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 46 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) CAAGATGACAACTGCGCACTA 0.398 6 46 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197056045 197056045 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:197056045C>A uc001gtu.2 - 27 10476 c.10219G>T c.(10219-10221)GCT>TCT p.A3407S ASPM_uc001gtv.2_Missense_Mutation_p.A1822S NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 3407 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TGTTTATGAGCTGTAAGTTTG 0.318 7 25 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197056046 197056046 + Silent SNP T A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:197056046T>A uc001gtu.2 - 27 10475 c.10218A>T c.(10216-10218)ACA>ACT p.T3406T ASPM_uc001gtv.2_Silent_p.T1821T NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 3406 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 GTTTATGAGCTGTAAGTTTGT 0.313 7 25 --- --- --- --- PASS C1orf106 55765 broad.mit.edu 37 1 200869268 200869268 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:200869268A>G uc001gvo.2 + 4 502 c.472A>G c.(472-474)AAA>GAA p.K158E C1orf106_uc010ppm.1_Missense_Mutation_p.K73E NM_018265 NP_060735 Q3KP66 CA106_HUMAN hypothetical protein LOC55765 isoform 1 158 skin(2)|ovary(1) 3 GTATCCCCTCAAACCAGGGGA 0.622 4 25 --- --- --- --- PASS NFASC 23114 broad.mit.edu 37 1 204971757 204971757 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:204971757C>A uc001hbj.2 + 27 3498 c.3170C>A c.(3169-3171)GCC>GAC p.A1057D NFASC_uc010pra.1_Intron|NFASC_uc001hbi.2_Intron|NFASC_uc010prb.1_Intron|NFASC_uc010prc.1_Intron|NFASC_uc001hbl.1_Intron|NFASC_uc001hbm.1_Missense_Mutation_p.A80D|NFASC_uc009xbh.1_Intron NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 1164 Extracellular (Potential).|Fibronectin type-III 5. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCAGTTAAGGCCCAGGCTCAG 0.547 4 18 --- --- --- --- PASS NFASC 23114 broad.mit.edu 37 1 204971758 204971758 + Silent SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:204971758C>A uc001hbj.2 + 27 3499 c.3171C>A c.(3169-3171)GCC>GCA p.A1057A NFASC_uc010pra.1_Intron|NFASC_uc001hbi.2_Intron|NFASC_uc010prb.1_Intron|NFASC_uc010prc.1_Intron|NFASC_uc001hbl.1_Intron|NFASC_uc001hbm.1_Silent_p.A80A|NFASC_uc009xbh.1_Intron NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 1164 Extracellular (Potential).|Fibronectin type-III 5. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CAGTTAAGGCCCAGGCTCAGC 0.542 4 18 --- --- --- --- PASS CR2 1380 broad.mit.edu 37 1 207641891 207641891 + Silent SNP A T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:207641891A>T uc001hfw.2 + 3 559 c.465A>T c.(463-465)CCA>CCT p.P155P CR2_uc001hfv.2_Silent_p.P155P|CR2_uc009xch.2_Silent_p.P155P|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 155 Sushi 3.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 TCGAGTGTCCAGCACTTCCTA 0.398 10 38 --- --- --- --- PASS KCNH1 3756 broad.mit.edu 37 1 210948803 210948803 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:210948803A>G uc001hib.2 - 10 2169 c.1999T>C c.(1999-2001)TGT>CGT p.C667R KCNH1_uc001hic.2_Missense_Mutation_p.C640R NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 667 Cytoplasmic (Potential).|cNMP. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TGCAGATCACAGTAGGTCAAG 0.517 11 49 --- --- --- --- PASS GALNT2 2590 broad.mit.edu 37 1 230401027 230401027 + Missense_Mutation SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:230401027C>G uc010pwa.1 + 14 1426 c.1354C>G c.(1354-1356)CAG>GAG p.Q452E GALNT2_uc010pvy.1_Missense_Mutation_p.Q414E|GALNT2_uc010pvz.1_RNA|GALNT2_uc001htu.2_Missense_Mutation_p.Q64E NM_004481 NP_004472 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 452 Lumenal (Potential).|Ricin B-type lectin. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) GGCCTTGCAGCAGGGAACTAA 0.517 54 135 --- --- --- --- PASS CAPN9 10753 broad.mit.edu 37 1 230914830 230914830 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:230914830G>T uc001htz.1 + 9 1178 c.1065G>T c.(1063-1065)CAG>CAT p.Q355H CAPN9_uc009xfg.1_Missense_Mutation_p.Q292H|CAPN9_uc001hua.1_Missense_Mutation_p.Q329H NM_006615 NP_006606 O14815 CAN9_HUMAN calpain 9 isoform 1 355 Domain III. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) CGGTCCATCAGGGAAGCTGGG 0.587 11 24 --- --- --- --- PASS CAPN9 10753 broad.mit.edu 37 1 230914831 230914831 + Nonsense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:230914831G>T uc001htz.1 + 9 1179 c.1066G>T c.(1066-1068)GGA>TGA p.G356* CAPN9_uc009xfg.1_Nonsense_Mutation_p.G293*|CAPN9_uc001hua.1_Nonsense_Mutation_p.G330* NM_006615 NP_006606 O14815 CAN9_HUMAN calpain 9 isoform 1 356 Domain III. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) GGTCCATCAGGGAAGCTGGGT 0.592 10 24 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235860456 235860456 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:235860456C>A uc001hxj.2 - 46 10666 c.10491G>T c.(10489-10491)CAG>CAT p.Q3497H LYST_uc001hxi.2_Missense_Mutation_p.Q721H NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3497 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TGGGCAGAGCCTGGAGAGAGC 0.478 Chediak-Higashi_syndrome 21 38 --- --- --- --- PASS ERO1LB 56605 broad.mit.edu 37 1 236389765 236389765 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:236389765G>T uc001hxt.2 - 12 1112 c.856C>A c.(856-858)CGC>AGC p.R286S NM_019891 NP_063944 Q86YB8 ERO1B_HUMAN endoplasmic reticulum oxidoreductin 1-Lbeta 286 FAD (By similarity). electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) GGGTCAAAGCGGTGTTTGAAT 0.393 14 34 --- --- --- --- PASS OR2T33 391195 broad.mit.edu 37 1 248436713 248436713 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:248436713C>T uc010pzi.1 - 1 404 c.404G>A c.(403-405)AGC>AAC p.S135N NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 135 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CAGCTGCCAGCTCATGAGAGT 0.592 10 76 --- --- --- --- PASS SNTG2 54221 broad.mit.edu 37 2 1204904 1204904 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:1204904C>T uc002qwq.2 + 9 835 c.707C>T c.(706-708)ACG>ATG p.T236M SNTG2_uc010ewi.2_Missense_Mutation_p.T109M NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 236 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) AAAGCCGGAACGGAAAAATTA 0.542 8 122 --- --- --- --- PASS PXDN 7837 broad.mit.edu 37 2 1652584 1652584 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:1652584G>T uc002qxa.2 - 17 3032 c.2968C>A c.(2968-2970)CTG>ATG p.L990M NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 990 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CGGAACCACAGCGTGTGCATG 0.647 3 8 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21231683 21231683 + Nonsense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:21231683C>T uc002red.2 - 26 8185 c.8057G>A c.(8056-8058)TGG>TAG p.W2686* NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2686 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGGAACGGGCCACTGCAGCTC 0.443 19 92 --- --- --- --- PASS MPV17 4358 broad.mit.edu 37 2 27535960 27535960 + Silent SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:27535960C>A uc002rjr.2 - 2 134 c.87G>T c.(85-87)CTG>CTT p.L29L MPV17_uc002rjq.2_Silent_p.L29L|MPV17_uc002rjs.2_Silent_p.L29L|MPV17_uc002rjt.2_Intron NM_002437 NP_002428 P39210 MPV17_HUMAN Mpv17 protein 29 Helical; (Potential). cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process integral to peroxisomal membrane|mitochondrial inner membrane 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAATGTCACCCAGGCCCATCA 0.602 21 34 --- --- --- --- PASS ALK 238 broad.mit.edu 37 2 29917817 29917817 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:29917817C>T uc002rmy.2 - 3 1758 c.851G>A c.(850-852)AGG>AAG p.R284K NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 284 MAM 1.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GCTCTGGTTCCTGAGGTCATG 0.572 T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 13 63 --- --- --- --- PASS ZNF638 27332 broad.mit.edu 37 2 71654035 71654035 + Missense_Mutation SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:71654035G>A uc002shx.2 + 24 5355 c.5036G>A c.(5035-5037)CGC>CAC p.R1679H ZNF638_uc002shy.2_Missense_Mutation_p.R1679H|ZNF638_uc002shz.2_Missense_Mutation_p.R1679H|ZNF638_uc002sia.2_Missense_Mutation_p.R1679H|ZNF638_uc002sib.1_3'UTR|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.R776H|ZNF638_uc002sid.2_Missense_Mutation_p.R48H NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 1679 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 AAACAGGAACGCTTGGTAACT 0.393 22 49 --- --- --- --- PASS C2orf78 388960 broad.mit.edu 37 2 74043169 74043169 + Silent SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:74043169C>A uc002sjr.1 + 3 1940 c.1819C>A c.(1819-1821)CGG>AGG p.R607R NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 607 Lys-rich. ovary(2) 2 CAATATGAAACGGAAGAAAAA 0.443 12 89 --- --- --- --- PASS HK2 3099 broad.mit.edu 37 2 75101429 75101429 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:75101429G>T uc002snd.2 + 7 2654 c.728G>T c.(727-729)CGC>CTC p.R243L NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 243 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 GAAGAGATGCGCCACATCGAC 0.612 5 25 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80530229 80530229 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:80530229C>A uc002sok.1 - 2 986 c.716G>T c.(715-717)TGC>TTC p.C239F 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 1 239 LRR 7.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 CCTCCGCAGGCAGAGCGAGTG 0.582 HNSCC(69;0.2) 14 67 --- --- --- --- PASS CD8A 925 broad.mit.edu 37 2 87017709 87017709 + Missense_Mutation SNP T C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:87017709T>C uc002srt.2 - 2 1034 c.145A>G c.(145-147)AAC>GAC p.N49D RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.N49D|CD8A_uc010ytn.1_Missense_Mutation_p.N90D|CD8A_uc002sru.2_Missense_Mutation_p.N49D NM_001768 NP_001759 P01732 CD8A_HUMAN CD8 antigen alpha polypeptide isoform 1 49 Ig-like V-type.|Extracellular (Potential). antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding ovary(1) 1 GACGTCGGGTTGGACAGCAGC 0.682 6 42 --- --- --- --- PASS TEKT4 150483 broad.mit.edu 37 2 95542358 95542358 + Silent SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:95542358A>G uc002stw.1 + 6 1245 c.1152A>G c.(1150-1152)CTA>CTG p.L384L uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 384 Potential. cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 AGAAGCTTCTAGAAGCGGAGC 0.602 9 16 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125367414 125367414 + Missense_Mutation SNP A C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:125367414A>C uc002tno.2 + 12 2154 c.1790A>C c.(1789-1791)CAG>CCG p.Q597P CNTNAP5_uc010flu.2_Missense_Mutation_p.Q598P NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 597 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TACAGGCACCAGGGGAATACA 0.532 20 46 --- --- --- --- PASS YSK4 80122 broad.mit.edu 37 2 135744864 135744864 + Silent SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:135744864A>G uc002tue.1 - 7 1609 c.1578T>C c.(1576-1578)AAT>AAC p.N526N YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.N413N|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.N254N|YSK4_uc002tui.3_Silent_p.N543N NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 526 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) TATGCTTGTCATTTTCTTGGT 0.413 21 40 --- --- --- --- PASS LY75 4065 broad.mit.edu 37 2 160755282 160755282 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:160755282C>A uc002ubc.3 - 2 452 c.383G>T c.(382-384)GGA>GTA p.G128V LY75_uc002ubb.3_Missense_Mutation_p.G128V|LY75_uc010fos.2_Missense_Mutation_p.G128V|LY75_uc010fot.1_Missense_Mutation_p.G128V NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 128 Extracellular (Potential).|Ricin B-type lectin. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) TGTGCCATGTCCATCCTTCAG 0.522 6 29 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162833288 162833288 + Silent SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:162833288C>A uc002ubx.3 + 25 3430 c.3246C>A c.(3244-3246)ATC>ATA p.I1082I SLC4A10_uc002uby.3_Silent_p.I1052I|SLC4A10_uc010zcs.1_Silent_p.I1063I NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 1082 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 CATCTGTGATCAATATATCTG 0.363 6 15 --- --- --- --- PASS KBTBD10 10324 broad.mit.edu 37 2 170366615 170366615 + Silent SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:170366615G>A uc002ueu.1 + 1 404 c.327G>A c.(325-327)TTG>TTA p.L109L KBTBD10_uc010zdh.1_Intron NM_006063 NP_006054 O60662 KBTBA_HUMAN kelch repeat and BTB (POZ) domain containing 10 109 striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle 0 TTTTTGCATTGGCCAGCCGCT 0.413 13 64 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179593012 179593012 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:179593012C>A uc010zfg.1 - 64 16031 c.15807G>T c.(15805-15807)CAG>CAT p.Q5269H TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q1930H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6196 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) CCTTAAACCACTGAGCACTAA 0.383 13 29 --- --- --- --- PASS MOBKL3 25843 broad.mit.edu 37 2 198380840 198380840 + Silent SNP G C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:198380840G>C uc002uun.3 + 1 70 c.30G>C c.(28-30)CTG>CTC p.L10L MOBKL3_uc002uum.3_Intron|MOBKL3_uc010fsn.2_Silent_p.L10L|MOBKL3_uc010fso.2_5'UTR|MOBKL3_uc010zgz.1_5'UTR NM_015387 NP_056202 Q9Y3A3 MOBL3_HUMAN Mps One Binder kinase activator-like 3 isoform 10 transport Golgi cisterna membrane|perinuclear region of cytoplasm metal ion binding|protein binding 0 Epithelial(96;0.225) CGGCAGTGCTGAGGCGGAACA 0.687 3 3 --- --- --- --- PASS SPATS2L 26010 broad.mit.edu 37 2 201337764 201337764 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:201337764G>T uc002uvn.3 + 12 1622 c.1270G>T c.(1270-1272)GCC>TCC p.A424S SPATS2L_uc010fst.2_Missense_Mutation_p.A424S|SPATS2L_uc002uvo.3_Missense_Mutation_p.A364S|SPATS2L_uc002uvp.3_Missense_Mutation_p.A424S|SPATS2L_uc002uvq.3_Missense_Mutation_p.A355S|SPATS2L_uc002uvr.3_Missense_Mutation_p.A424S|SPATS2L_uc010zhc.1_Missense_Mutation_p.A454S NM_015535 NP_056350 Q9NUQ6 SPS2L_HUMAN SPATS2-like protein isoform a 424 cytoplasm|nucleolus ovary(2)|pancreas(1) 3 GACCATGCCGGCCAACAAGCA 0.522 6 11 --- --- --- --- PASS CFLAR 8837 broad.mit.edu 37 2 202005138 202005138 + Silent SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:202005138C>T uc002uxb.3 + 5 1034 c.582C>T c.(580-582)CTC>CTT p.L194L CFLAR_uc002uwz.2_Silent_p.L194L|CFLAR_uc002uxa.3_Silent_p.L194L|CFLAR_uc010zhk.1_Silent_p.L98L|CFLAR_uc002uxc.3_Silent_p.L194L|CFLAR_uc010zhl.1_Silent_p.L98L|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Silent_p.L194L|CFLAR_uc002uxe.2_Silent_p.L194L|CFLAR_uc002uxf.2_Silent_p.L194L|CFLAR_uc010fsy.2_RNA|CFLAR_uc010fsx.2_Silent_p.L194L|CFLAR_uc010zhm.1_Silent_p.L98L|CFLAR_uc010fsz.2_5'UTR|CFLAR_uc002uxg.2_5'UTR|uc002uxh.1_RNA NM_003879 NP_003870 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator isoform 194 Interaction with caspase-8 propeptide.|Interaction with FADD.|Interaction with caspase-3.|Not proteolytically processed and involved in apoptosis inhibition.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-8. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding 0 AAAAGAGTCTCAAGGATCCTT 0.388 9 82 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216289955 216289955 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:216289955G>T uc002vfa.2 - 7 1164 c.898C>A c.(898-900)CCC>ACC p.P300T FN1_uc002vfb.2_Missense_Mutation_p.P300T|FN1_uc002vfc.2_Missense_Mutation_p.P300T|FN1_uc002vfd.2_Missense_Mutation_p.P300T|FN1_uc002vfe.2_Missense_Mutation_p.P300T|FN1_uc002vff.2_Missense_Mutation_p.P300T|FN1_uc002vfg.2_Missense_Mutation_p.P300T|FN1_uc002vfh.2_Missense_Mutation_p.P300T|FN1_uc002vfi.2_Missense_Mutation_p.P300T|FN1_uc002vfj.2_Missense_Mutation_p.P300T|FN1_uc002vfl.2_Missense_Mutation_p.P300T NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 300 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding p.P300S(1) central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGAGGCTGGGGGTGAGGCTGC 0.522 12 97 --- --- --- --- PASS TMPPE 643853 broad.mit.edu 37 3 33134425 33134425 + Silent SNP T C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:33134425T>C uc003cfk.2 - 2 1454 c.1263A>G c.(1261-1263)ACA>ACG p.T421T GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Silent_p.T284T NM_001039770 NP_001034859 Q6ZT21 TMPPE_HUMAN transmembrane protein with 421 integral to membrane metal ion binding 0 CATACACGAATGTAGCCTGGG 0.567 10 11 --- --- --- --- PASS EXOG 9941 broad.mit.edu 37 3 38539221 38539221 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:38539221C>T uc003cih.2 + 2 361 c.265C>T c.(265-267)CGG>TGG p.R89W EXOG_uc010hhg.2_Intron|EXOG_uc011ayq.1_Intron|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_Intron|EXOG_uc010hhe.2_Intron|EXOG_uc003cik.2_5'UTR|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_Intron NM_005107 NP_005098 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 89 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding 0 TCAGGCAAAGCGGGTGCCTAG 0.398 12 28 --- --- --- --- PASS MON1A 84315 broad.mit.edu 37 3 49947570 49947570 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:49947570C>T uc003cxz.2 - 4 1778 c.1652G>A c.(1651-1653)AGC>AAC p.S551N MON1A_uc003cya.2_Missense_Mutation_p.S389N|MON1A_uc003cyb.2_Missense_Mutation_p.S389N NM_032355 NP_115731 Q86VX9 MON1A_HUMAN MON1 homolog A isoform a 454 protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GAGTCCCGAGCTCTTTGACTT 0.612 18 57 --- --- --- --- PASS OR5AC2 81050 broad.mit.edu 37 3 97806723 97806723 + Missense_Mutation SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:97806723G>A uc011bgs.1 + 1 707 c.707G>A c.(706-708)AGA>AAA p.R236K NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 236 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GAAAAGGGCAGAAGCAAAGCC 0.408 6 40 --- --- --- --- PASS PHLDB2 90102 broad.mit.edu 37 3 111632221 111632221 + Missense_Mutation SNP A T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:111632221A>T uc010hqa.2 + 3 1802 c.1391A>T c.(1390-1392)GAC>GTC p.D464V PHLDB2_uc003dyc.2_Missense_Mutation_p.D491V|PHLDB2_uc003dyd.2_Missense_Mutation_p.D464V|PHLDB2_uc003dyg.2_Missense_Mutation_p.D464V|PHLDB2_uc003dyh.2_Missense_Mutation_p.D464V|PHLDB2_uc003dyi.2_Missense_Mutation_p.D50V|PHLDB2_uc003dyf.3_Missense_Mutation_p.D464V NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 464 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 ACAAAGCCTGACAGTCGCTTA 0.517 66 81 --- --- --- --- PASS CCDC14 64770 broad.mit.edu 37 3 123650002 123650002 + Silent SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:123650002C>A uc011bjx.1 - 12 1960 c.1869G>T c.(1867-1869)GGG>GGT p.G623G CCDC14_uc003egv.3_Silent_p.G264G|CCDC14_uc003egx.3_Silent_p.G423G|CCDC14_uc010hrt.2_Silent_p.G582G|CCDC14_uc003egy.3_Silent_p.G423G|CCDC14_uc003egz.2_Silent_p.G423G NM_022757 NP_073594 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 623 centrosome 0 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) GTAATGTTATCCCCAATATCT 0.368 11 39 --- --- --- --- PASS ASTE1 28990 broad.mit.edu 37 3 130743391 130743391 + Missense_Mutation SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:130743391G>A uc003env.1 - 3 1202 c.760C>T c.(760-762)CAC>TAC p.H254Y NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.H254Y|ASTE1_uc011blj.1_RNA NM_014065 NP_054784 Q2TB18 ASTE1_HUMAN asteroid homolog 1 254 DNA repair nuclease activity 0 AGGATTCGGTGGTGTCTCCTC 0.438 28 25 --- --- --- --- PASS TFDP2 7029 broad.mit.edu 37 3 141697362 141697362 + Silent SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:141697362C>T uc003eun.3 - 7 898 c.519G>A c.(517-519)TCG>TCA p.S173S TFDP2_uc003euk.3_Silent_p.S86S|TFDP2_uc010hur.2_Silent_p.S112S|TFDP2_uc003eul.3_Silent_p.S112S|TFDP2_uc011bnf.1_Silent_p.S76S|TFDP2_uc011bng.1_Silent_p.S37S|TFDP2_uc003eum.3_Silent_p.S112S NM_006286 NP_006277 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization 173 Potential. cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1) 1 ATTTACATACCGAATCAGCAG 0.383 12 151 --- --- --- --- PASS ZIC4 84107 broad.mit.edu 37 3 147108988 147108988 + Missense_Mutation SNP A C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:147108988A>C uc003ewd.1 - 4 1007 c.734T>G c.(733-735)TTC>TGC p.F245C ZIC4_uc003ewc.1_Missense_Mutation_p.F175C|ZIC4_uc011bno.1_Missense_Mutation_p.F295C NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 245 C2H2-type 4. nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GCTGTTGGCGAAGCGCCGCTC 0.617 35 19 --- --- --- --- PASS CP 1356 broad.mit.edu 37 3 148917542 148917542 + Silent SNP G A A rs144537170 byFrequency TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:148917542G>A uc003ewy.3 - 8 1711 c.1458C>T c.(1456-1458)AAC>AAT p.N486N CP_uc011bnr.1_RNA|CP_uc003ewx.3_Silent_p.N267N|CP_uc003ewz.2_Silent_p.N486N|CP_uc010hvf.1_Silent_p.N212N NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 486 Plastocyanin-like 3.|F5/8 type A 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) ATGTGCCCTCGTTGTTCTTAT 0.443 32 218 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 151148142 151148142 + Missense_Mutation SNP T C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:151148142T>C uc003eyp.2 + 42 6397 c.6359T>C c.(6358-6360)GTG>GCG p.V2120A MED12L_uc011bnz.1_Missense_Mutation_p.V1784A NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 2120 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCCGCCTTGGTGCGGCAGCTC 0.537 7 65 --- --- --- --- PASS MBNL1 4154 broad.mit.edu 37 3 152174130 152174130 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:152174130G>T uc003ezm.2 + 7 1879 c.1090G>T c.(1090-1092)GCA>TCA p.A364S MBNL1_uc003ezh.2_Missense_Mutation_p.A358S|MBNL1_uc003ezi.2_Missense_Mutation_p.A346S|MBNL1_uc003ezj.2_Missense_Mutation_p.A319S|MBNL1_uc003ezl.2_Intron|MBNL1_uc003ezp.2_Silent_p.L294L|MBNL1_uc003ezn.2_Missense_Mutation_p.A290S|MBNL1_uc003ezo.2_Missense_Mutation_p.A278S|MBNL1_uc010hvp.2_Intron NM_207293 NP_997176 Q9NR56 MBNL1_HUMAN muscleblind-like 1 isoform c 364 embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) TCCCTTCGCTGCAACAGCCAC 0.428 17 103 --- --- --- --- PASS LRRC31 79782 broad.mit.edu 37 3 169569470 169569470 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:169569470G>T uc003fgc.1 - 7 1173 c.1096C>A c.(1096-1098)CCA>ACA p.P366T LRRC31_uc010hwp.1_Missense_Mutation_p.P310T NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 366 ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TTCAATGCTGGTAAAAATCGG 0.403 28 97 --- --- --- --- PASS GHSR 2693 broad.mit.edu 37 3 172165779 172165779 + Missense_Mutation SNP T A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:172165779T>A uc003fib.1 - 1 425 c.425A>T c.(424-426)TAC>TTC p.Y142F GHSR_uc011bpv.1_Missense_Mutation_p.Y142F NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 142 Cytoplasmic (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GATGGCGAAGTAGCGCTCGAC 0.617 29 13 --- --- --- --- PASS HTR3E 285242 broad.mit.edu 37 3 183823602 183823602 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:183823602C>A uc010hxq.2 + 7 1236 c.770C>A c.(769-771)CCC>CAC p.P257H HTR3E_uc003fml.3_Missense_Mutation_p.P242H|HTR3E_uc003fmm.2_Missense_Mutation_p.P272H|HTR3E_uc010hxr.2_Missense_Mutation_p.P283H|HTR3E_uc003fmn.2_Missense_Mutation_p.P257H NM_182589 NP_872395 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine receptor 3 subunit E 257 Helical; Name=1; (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CTTCTCGTGCCCAGTGGCTTT 0.552 19 143 --- --- --- --- PASS RTP2 344892 broad.mit.edu 37 3 187416621 187416621 + Nonsense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:187416621C>A uc003fro.1 - 2 772 c.343G>T c.(343-345)GAG>TAG p.E115* NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN receptor transporting protein 2 115 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding 0 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) ACCAGGCCCTCGATGTTCTCC 0.677 19 22 --- --- --- --- PASS ATP13A5 344905 broad.mit.edu 37 3 193061839 193061839 + Missense_Mutation SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:193061839C>G uc011bsq.1 - 9 820 c.820G>C c.(820-822)GAG>CAG p.E274Q NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 274 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TCCAGCTCCTCCAAACCTACA 0.418 17 58 --- --- --- --- PASS ZFYVE28 57732 broad.mit.edu 37 4 2343208 2343208 + Silent SNP G A A rs74965159 TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr4:2343208G>A uc003gex.1 - 3 634 c.315C>T c.(313-315)GCC>GCT p.A105A ZFYVE28_uc011bvk.1_Silent_p.A35A|ZFYVE28_uc011bvl.1_Silent_p.A105A|ZFYVE28_uc003gey.3_Silent_p.A35A|ZFYVE28_uc003gez.2_Silent_p.A58A|ZFYVE28_uc003gew.1_5'Flank NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 105 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 CCGCTACCTCGGCACCGAACC 0.662 5 11 --- --- --- --- PASS CPZ 8532 broad.mit.edu 37 4 8613866 8613866 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr4:8613866C>A uc003glm.2 + 8 1466 c.1340C>A c.(1339-1341)GCG>GAG p.A447E CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.A310E|CPZ_uc003glo.2_Missense_Mutation_p.A436E|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 447 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 ATCAACGGGGCGGACTGGTAC 0.403 11 3 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62801650 62801650 + Missense_Mutation SNP T A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr4:62801650T>A uc010ihh.2 + 12 2275 c.2102T>A c.(2101-2103)GTT>GAT p.V701D LPHN3_uc003hcq.3_Missense_Mutation_p.V701D|LPHN3_uc003hct.2_Missense_Mutation_p.V94D NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 688 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 GAATTGGAAGTTGCAAGACTG 0.363 3 4 --- --- --- --- PASS AREG 374 broad.mit.edu 37 4 75312287 75312287 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr4:75312287A>G uc011cbl.1 + 2 308 c.98A>G c.(97-99)TAC>TGC p.Y33C NM_001657 NP_001648 P15514 AREG_HUMAN amphiregulin preproprotein 33 cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication cell surface|extracellular space|integral to membrane cytokine activity|growth factor activity 0 Lung(101;0.196) AATGACACCTACTCTGGGAAG 0.488 48 39 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114163341 114163341 + Silent SNP C A A rs113692517 byFrequency TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr4:114163341C>A uc003ibe.3 + 9 967 c.867C>A c.(865-867)GGC>GGA p.G289G ANK2_uc003ibd.3_Silent_p.G268G|ANK2_uc003ibf.3_Silent_p.G289G|ANK2_uc003ibc.2_Silent_p.G265G|ANK2_uc011cgb.1_Silent_p.G304G NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 289 ANK 8. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGGATCGAGGCGGTCAGATCG 0.428 26 26 --- --- --- --- PASS DDX60L 91351 broad.mit.edu 37 4 169305933 169305933 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr4:169305933C>T uc003irq.3 - 30 4167 c.3946G>A c.(3946-3948)GAC>AAC p.D1316N NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1316 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CCAAGCAGGTCTTGACCTCTT 0.423 11 19 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183575036 183575036 + Silent SNP T C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr4:183575036T>C uc003ivd.1 + 5 1138 c.1101T>C c.(1099-1101)TCT>TCC p.S367S NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 367 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CATTACCTTCTGGAGACAATG 0.368 12 17 --- --- --- --- PASS SLC6A3 6531 broad.mit.edu 37 5 1420684 1420684 + Silent SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr5:1420684A>G uc003jck.2 - 6 1048 c.927T>C c.(925-927)TCT>TCC p.S309S NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 309 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CTGTACTCACAGACGCCTCGC 0.592 29 117 --- --- --- --- PASS PRLR 5618 broad.mit.edu 37 5 35065607 35065607 + Nonsense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr5:35065607C>A uc003jjm.2 - 10 1983 c.1453G>T c.(1453-1455)GAG>TAG p.E485* PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Nonsense_Mutation_p.E384* NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 485 Cytoplasmic (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGGTCAGTCTCAGAATGGAAG 0.483 27 58 --- --- --- --- PASS DAB2 1601 broad.mit.edu 37 5 39383066 39383066 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr5:39383066C>A uc003jlx.2 - 10 1526 c.995G>T c.(994-996)AGT>ATT p.S332I DAB2_uc003jlw.2_Missense_Mutation_p.S311I NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 332 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) GGGCCCATTACTCAGCGGAGT 0.498 25 73 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90049535 90049535 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr5:90049535A>G uc003kju.2 + 54 11362 c.11266A>G c.(11266-11268)ATT>GTT p.I3756V GPR98_uc003kjt.2_Missense_Mutation_p.I1462V|GPR98_uc003kjv.2_Missense_Mutation_p.I1356V NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3756 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGGTGCTACTATTGATCAGGA 0.453 21 24 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127648412 127648412 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr5:127648412C>T uc003kuu.2 - 37 5232 c.4793G>A c.(4792-4794)GGG>GAG p.G1598E NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1598 TB 6. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GACGCCCACCCCGATCTCGGT 0.552 105 149 --- --- --- --- PASS KDM3B 51780 broad.mit.edu 37 5 137727932 137727932 + Silent SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr5:137727932C>A uc003lcy.1 + 8 2811 c.2611C>A c.(2611-2613)CGG>AGG p.R871R KDM3B_uc010jew.1_Silent_p.R527R|KDM3B_uc011cys.1_Intron NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 871 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 GGGCCGGCCTCGGACTGCCCC 0.612 3 21 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140209961 140209961 + Missense_Mutation SNP A T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr5:140209961A>T uc003lho.2 + 1 2312 c.2285A>T c.(2284-2286)GAG>GTG p.E762V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.E762V NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 762 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTCCGGGGAGGGCCCACCC 0.597 6 35 --- --- --- --- PASS PCDHGA4 56111 broad.mit.edu 37 5 140736606 140736606 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr5:140736606G>T uc003ljq.1 + 1 1839 c.1839G>T c.(1837-1839)GAG>GAT p.E613D PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.E613D NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 613 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTCCAGCGAGCCGGGACTAT 0.622 21 26 --- --- --- --- PASS KIAA0141 9812 broad.mit.edu 37 5 141316862 141316862 + Missense_Mutation SNP G T T rs137962377 TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr5:141316862G>T uc003lls.2 + 11 1371 c.1249G>T c.(1249-1251)GCT>TCT p.A417S KIAA0141_uc003llt.2_Missense_Mutation_p.A417S|KIAA0141_uc003llu.1_RNA NM_001142603 NP_001136075 Q14154 DELE_HUMAN hypothetical protein LOC9812 precursor 417 TPR 6. apoptosis|regulation of caspase activity mitochondrion protein binding skin(1) 1 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGTCAGCCGCTCTGGGAAA 0.567 26 51 --- --- --- --- PASS KIAA0319 9856 broad.mit.edu 37 6 24596213 24596213 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr6:24596213G>T uc011djo.1 - 3 926 c.689C>A c.(688-690)CCT>CAT p.P230H KIAA0319_uc011djp.1_Missense_Mutation_p.P185H|KIAA0319_uc003neh.1_Missense_Mutation_p.P230H|KIAA0319_uc011djq.1_Missense_Mutation_p.P221H|KIAA0319_uc011djr.1_Missense_Mutation_p.P230H NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 230 Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 ACTTCTCTCAGGGAGTTTTGG 0.552 27 27 --- --- --- --- PASS ZNF76 7629 broad.mit.edu 37 6 35260412 35260412 + Missense_Mutation SNP T C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr6:35260412T>C uc003oki.1 + 10 1218 c.1013T>C c.(1012-1014)GTG>GCG p.V338A ZNF76_uc011dsz.1_Missense_Mutation_p.V338A|ZNF76_uc003okj.1_Missense_Mutation_p.V338A NM_003427 NP_003418 P36508 ZNF76_HUMAN zinc finger protein 76 (expressed in testis) 338 C2H2-type 6. regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CACCACGTGGTGCACACACAC 0.617 25 23 --- --- --- --- PASS FGD2 221472 broad.mit.edu 37 6 36981871 36981871 + Missense_Mutation SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr6:36981871C>G uc010jwp.1 + 6 989 c.818C>G c.(817-819)GCC>GGC p.A273G FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Missense_Mutation_p.A79G NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 273 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding upper_aerodigestive_tract(1)|lung(1)|pancreas(1) 3 CAGGCCGATGCCCAGAGTGAG 0.577 21 14 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51618098 51618098 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr6:51618098C>T uc003pah.1 - 57 9127 c.8851G>A c.(8851-8853)GGA>AGA p.G2951R PKHD1_uc010jzn.1_Missense_Mutation_p.G934R|PKHD1_uc003pai.2_Missense_Mutation_p.G2951R NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2951 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GTCAACAGTCCAACCTCAGCA 0.468 15 22 --- --- --- --- PASS KLHL32 114792 broad.mit.edu 37 6 97424046 97424046 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr6:97424046A>G uc010kcm.1 + 3 669 c.197A>G c.(196-198)TAT>TGT p.Y66C KLHL32_uc003poy.2_Missense_Mutation_p.Y66C|KLHL32_uc011ead.1_Missense_Mutation_p.Y66C|KLHL32_uc003poz.2_5'UTR|KLHL32_uc011eae.1_Missense_Mutation_p.Y66C NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 66 BTB. ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) TGCAGTGACTATTTCCGGGTA 0.448 6 43 --- --- --- --- PASS CDC40 51362 broad.mit.edu 37 6 110540601 110540601 + Silent SNP A T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr6:110540601A>T uc003pua.2 + 11 1149 c.1125A>T c.(1123-1125)GTA>GTT p.V375V NM_015891 NP_056975 O60508 PRP17_HUMAN cell division cycle 40 homolog 375 WD 3. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm 0 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) ACCGAAAAGTACCTTATTGTG 0.323 21 17 --- --- --- --- PASS DSE 29940 broad.mit.edu 37 6 116747880 116747880 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr6:116747880A>G uc003pws.2 + 3 754 c.560A>G c.(559-561)TAT>TGT p.Y187C DSE_uc011ebf.1_Missense_Mutation_p.Y187C|DSE_uc011ebg.1_Missense_Mutation_p.Y206C|DSE_uc003pwt.2_Missense_Mutation_p.Y187C NM_001080976 NP_001074445 Q9UL01 DSE_HUMAN dermatan sulfate epimerase precursor 187 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity ovary(1) 1 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) GCCTCAGGGTATATGTATGAA 0.463 21 26 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129649434 129649434 + Silent SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr6:129649434G>T uc003qbn.2 + 29 4293 c.4188G>T c.(4186-4188)CCG>CCT p.P1396P LAMA2_uc003qbo.2_Silent_p.P1396P NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1396 Laminin EGF-like 14; second part. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CATGCTTGCCGGGATTTTATC 0.507 26 23 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18975451 18975451 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr7:18975451G>T uc003suh.2 + 22 2855 c.2814G>T c.(2812-2814)AAG>AAT p.K938N HDAC9_uc003sue.2_Missense_Mutation_p.K938N|HDAC9_uc003sui.2_Missense_Mutation_p.K941N|HDAC9_uc003suj.2_Missense_Mutation_p.K897N|HDAC9_uc003suk.2_Missense_Mutation_p.K186N NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 938 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) ATTTGACGAAGCAATTGATGA 0.378 38 113 --- --- --- --- PASS STK31 56164 broad.mit.edu 37 7 23776540 23776540 + Missense_Mutation SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr7:23776540G>A uc003sws.3 + 8 927 c.860G>A c.(859-861)GGT>GAT p.G287D STK31_uc003swt.3_Missense_Mutation_p.G264D|STK31_uc011jze.1_Missense_Mutation_p.G287D|STK31_uc010kuq.2_Missense_Mutation_p.G264D NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 287 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 TTGGCTGTTGGTGACTTTAAT 0.338 16 33 --- --- --- --- PASS PLEKHA8 84725 broad.mit.edu 37 7 30102343 30102343 + Missense_Mutation SNP A T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr7:30102343A>T uc003tam.1 + 12 1376 c.1285A>T c.(1285-1287)ATC>TTC p.I429F PLEKHA8_uc003tao.2_Missense_Mutation_p.I313F|PLEKHA8_uc003tap.1_Missense_Mutation_p.I429F|PLEKHA8_uc003tan.2_Missense_Mutation_p.I429F NM_032639 NP_116028 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A 429 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(3)|ovary(1) 4 GGAGAAGGATATCCAGACAGC 0.358 19 47 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 38288949 38288949 + Missense_Mutation SNP T G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr7:38288949T>G uc003tfu.3 - 2 275 c.40A>C c.(40-42)ACG>CCG p.T14P uc003tfv.2_Missense_Mutation_p.T14P|uc003tfw.2_RNA|uc003tfx.1_RNA|uc003tfz.1_RNA SubName: Full=TARP protein; TCTGGCACCGTTAACCAGCTA 0.393 41 79 --- --- --- --- PASS EGFR 1956 broad.mit.edu 37 7 55259524 55259524 + Missense_Mutation SNP T A A rs121913444 TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr7:55259524T>A uc003tqk.2 + 21 2828 c.2582T>A c.(2581-2583)CTG>CAG p.L861Q EGFR_uc010kzg.1_Missense_Mutation_p.L816Q|EGFR_uc011kco.1_Missense_Mutation_p.L808Q|uc003tqo.2_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 861 Cytoplasmic (Potential).|Protein kinase. L -> Q (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L861Q(96)|p.L861R(10)|p.A859_L883>V(2)|p.L861F(1)|p.L861V(1)|p.L861P(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTGGCCAAACTGCTGGGTGCG 0.557 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 45 121 --- --- --- --- PASS DOCK4 9732 broad.mit.edu 37 7 111629078 111629078 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr7:111629078C>A uc003vfx.2 - 6 725 c.456G>T c.(454-456)TGG>TGT p.W152C DOCK4_uc003vfy.2_Missense_Mutation_p.W152C|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.W152C|DOCK4_uc003vgb.1_Missense_Mutation_p.W76C NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 152 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) ACTCATTGCCCCAGTCAAGCC 0.562 7 15 --- --- --- --- PASS SLC13A1 6561 broad.mit.edu 37 7 122755604 122755604 + Missense_Mutation SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr7:122755604C>G uc003vkm.2 - 15 1781 c.1756G>C c.(1756-1758)GCT>CCT p.A586P SLC13A1_uc010lks.2_Missense_Mutation_p.A462P NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 586 integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) ATAGCAGGAGCCCACGAAGGG 0.413 14 40 --- --- --- --- PASS OPN1SW 611 broad.mit.edu 37 7 128415130 128415130 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr7:128415130C>T uc003vnt.3 - 2 431 c.431G>A c.(430-432)CGC>CAC p.R144H NM_001708 NP_001699 P03999 OPSB_HUMAN opsin 1 (cone pigments), short-wave-sensitive 144 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 GGAGCTGAAGCGGAAGTTGCC 0.552 15 30 --- --- --- --- PASS OR6B1 135946 broad.mit.edu 37 7 143701479 143701479 + Silent SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr7:143701479C>A uc003wdt.1 + 1 390 c.390C>A c.(388-390)CTC>CTA p.L130L NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) GTCGCCCACTCCACTACCCAA 0.532 21 47 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147336265 147336265 + Silent SNP A T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr7:147336265A>T uc003weu.1 + 13 2481 c.1965A>T c.(1963-1965)CCA>CCT p.P655P NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 655 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GCTACAACCCAGAAAAATACT 0.512 HNSCC(39;0.1) 21 71 --- --- --- --- PASS C7orf33 202865 broad.mit.edu 37 7 148312428 148312428 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr7:148312428C>T uc003wew.2 + 3 830 c.469C>T c.(469-471)CAT>TAT p.H157Y NM_145304 NP_660347 Q8WU49 CG033_HUMAN hypothetical protein LOC202865 157 central_nervous_system(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GGTACGTGGGCATGAAGTAAG 0.388 30 59 --- --- --- --- PASS CLN8 2055 broad.mit.edu 37 8 1728421 1728421 + Silent SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr8:1728421C>G uc003wpo.3 + 3 854 c.549C>G c.(547-549)GGC>GGG p.G183G NM_018941 NP_061764 Q9UBY8 CLN8_HUMAN ceroid-lipofuscinosis, neuronal 8 183 TLC. cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913) TGCAGGCGGGCTGGTCCGAGT 0.453 9 25 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10470689 10470689 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr8:10470689C>T uc003wtc.2 - 4 1148 c.919G>A c.(919-921)GAT>AAT p.D307N NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 307 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TTCATGTCATCGCCAGCCACC 0.647 14 43 --- --- --- --- PASS DLC1 10395 broad.mit.edu 37 8 13357058 13357058 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr8:13357058C>T uc003wwm.2 - 2 967 c.523G>A c.(523-525)GTA>ATA p.V175I DLC1_uc003wwn.2_Missense_Mutation_p.V175I|DLC1_uc011kxy.1_Missense_Mutation_p.V175I NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 175 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 CTTTCTTTTACCAGTGCTAAT 0.408 12 82 --- --- --- --- PASS DLC1 10395 broad.mit.edu 37 8 13357059 13357059 + Silent SNP C A A rs147848228 TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr8:13357059C>A uc003wwm.2 - 2 966 c.522G>T c.(520-522)CTG>CTT p.L174L DLC1_uc003wwn.2_Silent_p.L174L|DLC1_uc011kxy.1_Silent_p.L174L NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 174 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 TTTCTTTTACCAGTGCTAATT 0.408 12 81 --- --- --- --- PASS SLC20A2 6575 broad.mit.edu 37 8 42294928 42294928 + Nonsense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr8:42294928C>A uc010lxl.2 - 8 1796 c.1102G>T c.(1102-1104)GAG>TAG p.E368* SLC20A2_uc010lxm.2_Nonsense_Mutation_p.E368*|SLC20A2_uc003xpe.2_Nonsense_Mutation_p.E368*|SLC20A2_uc011lcu.1_Nonsense_Mutation_p.E170* NM_006749 NP_006740 Q08357 S20A2_HUMAN solute carrier family 20, member 2 368 Cytoplasmic (Potential). interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity ovary(2) 2 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) GGCTTCTCCTCGGGGCCCCTG 0.597 25 63 --- --- --- --- PASS TOX 9760 broad.mit.edu 37 8 59728236 59728236 + Silent SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr8:59728236C>G uc003xtw.1 - 7 1274 c.1053G>C c.(1051-1053)CTG>CTC p.L351L NM_014729 NP_055544 O94900 TOX_HUMAN thymus high mobility group box protein TOX 351 nucleus DNA binding kidney(2)|lung(1)|skin(1) 4 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) TCGAATTGATCAGCTGAGGAG 0.512 15 34 --- --- --- --- PASS GGH 8836 broad.mit.edu 37 8 63938734 63938734 + Missense_Mutation SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr8:63938734G>A uc003xuw.2 - 5 765 c.482C>T c.(481-483)CCG>CTG p.P161L NM_003878 NP_003869 Q92820 GGH_HUMAN gamma-glutamyl hydrolase precursor 161 Gamma-glutamyl hydrolase. glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity 0 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) GAAGTTCAGCGGCATTGCCAC 0.418 10 37 --- --- --- --- PASS CYP7B1 9420 broad.mit.edu 37 8 65509278 65509278 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr8:65509278C>A uc003xvj.2 - 6 1646 c.1442G>T c.(1441-1443)GGA>GTA p.G481V NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 481 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) GTAGTTTAGTCCTATGGGCTT 0.303 10 27 --- --- --- --- PASS CYP7B1 9420 broad.mit.edu 37 8 65509282 65509282 + Missense_Mutation SNP T A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr8:65509282T>A uc003xvj.2 - 6 1642 c.1438A>T c.(1438-1440)ATA>TTA p.I480L NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 480 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TTTAGTCCTATGGGCTTATCA 0.318 9 27 --- --- --- --- PASS PI15 51050 broad.mit.edu 37 8 75737654 75737654 + Missense_Mutation SNP G C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr8:75737654G>C uc003yal.2 + 2 349 c.170G>C c.(169-171)AGG>ACG p.R57T uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.R57T NM_015886 NP_056970 O43692 PI15_HUMAN protease inhibitor 15 preproprotein 57 extracellular region peptidase inhibitor activity central_nervous_system(2)|ovary(1) 3 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) CCCAAAGCCAGGCGGAAGCGC 0.448 10 68 --- --- --- --- PASS STMN2 11075 broad.mit.edu 37 8 80553671 80553671 + Missense_Mutation SNP G C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr8:80553671G>C uc003ybj.2 + 3 225 c.174G>C c.(172-174)TTG>TTC p.L58F STMN2_uc010lzp.2_RNA|STMN2_uc011lfn.1_Missense_Mutation_p.L58F NM_007029 NP_008960 Q93045 STMN2_HUMAN superiorcervical ganglia, neural specific 10 58 Regulatory/phosphorylation domain (Potential). intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding ovary(1)|central_nervous_system(1) 2 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) AGCTGATCTTGAAGCCACCAT 0.458 27 34 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110476886 110476886 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr8:110476886G>T uc003yne.2 + 49 7929 c.7825G>T c.(7825-7827)GGC>TGC p.G2609C NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2609 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGTTCCCCTTGGCGAATTTTT 0.433 HNSCC(38;0.096) 25 76 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113697704 113697704 + Missense_Mutation SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr8:113697704G>A uc003ynu.2 - 15 2572 c.2413C>T c.(2413-2415)CAC>TAC p.H805Y CSMD3_uc003yns.2_Missense_Mutation_p.H77Y|CSMD3_uc003ynt.2_Missense_Mutation_p.H765Y|CSMD3_uc011lhx.1_Missense_Mutation_p.H701Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 805 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CGCAGTATGTGACTATTACTA 0.418 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 41 --- --- --- --- PASS ZFAT 57623 broad.mit.edu 37 8 135533199 135533199 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr8:135533199C>A uc003yup.2 - 13 3336 c.3161G>T c.(3160-3162)TGG>TTG p.W1054L ZFAT_uc011ljj.1_Missense_Mutation_p.W173L|ZFAT_uc003yun.2_Missense_Mutation_p.W1042L|ZFAT_uc003yuo.2_Missense_Mutation_p.W1042L|ZFAT_uc010meh.2_Missense_Mutation_p.W1042L|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.W1042L|ZFAT_uc010mej.2_Missense_Mutation_p.W992L NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 1054 C2H2-type 19. 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) ATTGAACTCCCATTTGGTGCC 0.388 17 35 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139611003 139611003 + Missense_Mutation SNP G C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr8:139611003G>C uc003yvd.2 - 61 4771 c.4324C>G c.(4324-4326)CCC>GCC p.P1442A COL22A1_uc011ljo.1_Missense_Mutation_p.P722A NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1442 Pro-rich.|Gly-rich.|Collagen-like 14. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGCCCTGGGGGTCCAACTGGT 0.622 HNSCC(7;0.00092) 19 25 --- --- --- --- PASS ZNF462 58499 broad.mit.edu 37 9 109689491 109689491 + Missense_Mutation SNP C A A rs76712188 TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr9:109689491C>A uc004bcz.2 + 3 3587 c.3298C>A c.(3298-3300)CCC>ACC p.P1100T ZNF462_uc010mto.2_Missense_Mutation_p.P948T|ZNF462_uc004bda.2_Missense_Mutation_p.P948T NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 1100 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 GGGTTCCCCACCCCCCCCACA 0.527 3 12 --- --- --- --- PASS ASB6 140459 broad.mit.edu 37 9 132400573 132400573 + Missense_Mutation SNP G C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr9:132400573G>C uc004byf.1 - 6 928 c.762C>G c.(760-762)AGC>AGG p.S254R ASB6_uc004bye.1_Missense_Mutation_p.S179R|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_Missense_Mutation_p.S175R|ASB6_uc010myx.1_Missense_Mutation_p.S225R NM_017873 NP_060343 Q9NWX5 ASB6_HUMAN ankyrin repeat and SOCS box-containing 6 isoform 254 ANK 5. intracellular signal transduction cytoplasm 0 Ovarian(14;0.00556) CTGGGCACTCGCTGGGGTCGG 0.622 11 14 --- --- --- --- PASS VAV2 7410 broad.mit.edu 37 9 136662858 136662858 + Missense_Mutation SNP G C C rs150680379 TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr9:136662858G>C uc004ces.2 - 10 956 c.910C>G c.(910-912)CGG>GGG p.R304G VAV2_uc004cer.2_Missense_Mutation_p.R299G NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 304 DH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) AAGTCCTCCCGGCTGGCCAGG 0.617 5 9 --- --- --- --- PASS VAV2 7410 broad.mit.edu 37 9 136726513 136726513 + Silent SNP C A A rs145591299 byFrequency TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr9:136726513C>A uc004ces.2 - 3 409 c.363G>T c.(361-363)GCG>GCT p.A121A VAV2_uc004cer.2_Silent_p.A121A NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 121 angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) CTTTGTTCTGCGCGATGCTGT 0.567 3 7 --- --- --- --- PASS NSUN6 221078 broad.mit.edu 37 10 18835047 18835047 + Missense_Mutation SNP T A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr10:18835047T>A uc010qcp.1 - 11 1643 c.1225A>T c.(1225-1227)AGG>TGG p.R409W NSUN6_uc001iqb.2_5'Flank NM_182543 NP_872349 Q8TEA1 NSUN6_HUMAN NOL1/NOP2/Sun domain family, member 6 409 methyltransferase activity|RNA binding ovary(2) 2 CCAGCTCCCCTCATTCCTTCT 0.463 15 86 --- --- --- --- PASS GAD2 2572 broad.mit.edu 37 10 26518595 26518595 + Silent SNP C A A rs149136572 by1000genomes TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr10:26518595C>A uc001isp.2 + 7 1232 c.729C>A c.(727-729)GGC>GGA p.G243G GAD2_uc001isq.2_Silent_p.G243G NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 243 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) CTTTAGGTGGCGCCATATCTA 0.443 12 18 --- --- --- --- PASS APBB1IP 54518 broad.mit.edu 37 10 26789824 26789824 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr10:26789824G>T uc001iss.2 + 5 558 c.237G>T c.(235-237)GAG>GAT p.E79D APBB1IP_uc001isr.2_Missense_Mutation_p.E79D|APBB1IP_uc009xks.1_Missense_Mutation_p.E79D NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 79 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 GTGAGGCTGAGCAGAGGACAA 0.438 21 46 --- --- --- --- PASS SVIL 6840 broad.mit.edu 37 10 29812615 29812615 + Nonsense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr10:29812615G>T uc001iut.1 - 15 3681 c.2928C>A c.(2926-2928)TAC>TAA p.Y976* SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Nonsense_Mutation_p.Y550* NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 976 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) TCAGGATGGGGTAGGATGCTT 0.517 6 47 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37430680 37430680 + Silent SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr10:37430680A>G uc001iza.1 + 7 786 c.687A>G c.(685-687)GCA>GCG p.A229A NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 285 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ATGAGGCTGCACCCTTGGCGG 0.398 9 21 --- --- --- --- PASS ZNF37A 7587 broad.mit.edu 37 10 38407647 38407647 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr10:38407647A>G uc001izk.2 + 8 2387 c.1568A>G c.(1567-1569)TAT>TGT p.Y523C ZNF37A_uc001izl.2_Missense_Mutation_p.Y523C|ZNF37A_uc001izm.2_Missense_Mutation_p.Y523C NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 523 C2H2-type 12. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 GAGAAACCCTATGAATGTAAT 0.358 4 26 --- --- --- --- PASS RBP3 5949 broad.mit.edu 37 10 48389413 48389413 + Missense_Mutation SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr10:48389413C>G uc001jez.2 - 1 1579 c.1465G>C c.(1465-1467)GTG>CTG p.V489L NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 489 4 X approximate tandem repeats.|2. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) AGCAGGGGCACAGCAGAGGAT 0.642 7 6 --- --- --- --- PASS SLC18A3 6572 broad.mit.edu 37 10 50820165 50820165 + Missense_Mutation SNP T A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr10:50820165T>A uc001jhw.2 + 1 1819 c.1379T>A c.(1378-1380)CTG>CAG p.L460Q CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 460 Helical; (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 CTGGCCAACCTGCTCTATGCT 0.637 3 13 --- --- --- --- PASS CHAT 1103 broad.mit.edu 37 10 50856551 50856551 + Splice_Site SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr10:50856551A>G uc001jhz.2 + 9 1435 c.1282_splice c.e9-2 p.F428_splice CHAT_uc001jhv.1_Splice_Site_p.F310_splice|CHAT_uc001jhx.1_Splice_Site_p.F310_splice|CHAT_uc001jhy.1_Splice_Site_p.F310_splice|CHAT_uc001jia.2_Splice_Site_p.F310_splice|CHAT_uc010qgs.1_Splice_Site_p.F310_splice NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TTCCTGTTGCAGTTTGTGGTG 0.607 3 9 --- --- --- --- PASS PDLIM1 9124 broad.mit.edu 37 10 97007015 97007015 + Silent SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr10:97007015C>T uc001kkh.2 - 5 751 c.642G>A c.(640-642)ACG>ACA p.T214T PDLIM1_uc001kki.2_Silent_p.T214T|PDLIM1_uc009xuv.2_Silent_p.T214T|PDLIM1_uc001kkj.1_Silent_p.T214T NM_020992 NP_066272 O00151 PDLI1_HUMAN PDZ and LIM domain 1 214 response to oxidative stress cytoplasm|cytoskeleton zinc ion binding 0 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) CCAAGAAAGACGTGGACTGTT 0.468 19 95 --- --- --- --- PASS C10orf62 414157 broad.mit.edu 37 10 99350269 99350269 + Silent SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr10:99350269C>T uc001koa.2 + 1 786 c.615C>T c.(613-615)CAC>CAT p.H205H DHDPSL_uc001knx.2_Intron|DHDPSL_uc001kny.2_Intron|DHDPSL_uc001knz.2_Intron|PI4K2A_uc010qoy.1_Intron NM_001009997 NP_001009997 Q5T681 CJ062_HUMAN hypothetical protein LOC414157 205 His-rich. protein binding 0 Colorectal(252;0.162) Epithelial(162;9.58e-11)|all cancers(201;8.62e-09) ACAGTCACCACAGTCACCATG 0.532 10 38 --- --- --- --- PASS PSD 5662 broad.mit.edu 37 10 104176612 104176612 + Missense_Mutation SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr10:104176612G>A uc001kvg.1 - 2 711 c.184C>T c.(184-186)CGT>TGT p.R62C PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.R62C|PSD_uc001kvi.1_Missense_Mutation_p.R62C|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 62 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GCTGTCACACGTCCCAGTTCC 0.697 13 23 --- --- --- --- PASS COL17A1 1308 broad.mit.edu 37 10 105814742 105814742 + Nonsense_Mutation SNP T A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr10:105814742T>A uc001kxr.2 - 20 1910 c.1741A>T c.(1741-1743)AAA>TAA p.K581* COL17A1_uc010qqv.1_Nonsense_Mutation_p.K565* NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 581 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TAATTACCTTTAGGGCCTGGA 0.398 6 31 --- --- --- --- PASS FAM53B 9679 broad.mit.edu 37 10 126311970 126311970 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr10:126311970C>A uc001lhv.1 - 5 1633 c.1110G>T c.(1108-1110)CAG>CAT p.Q370H FAM53B_uc001lhu.1_Intron NM_014661 NP_055476 Q14153 FA53B_HUMAN hypothetical protein LOC9679 370 ovary(1)|pancreas(1) 2 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) ACAGGTCCTCCTGGCAGGCGA 0.726 8 12 --- --- --- --- PASS OR51V1 283111 broad.mit.edu 37 11 5221861 5221861 + Missense_Mutation SNP T G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr11:5221861T>G uc010qyz.1 - 1 70 c.70A>C c.(70-72)ACT>CCT p.T24P NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAAATCCAGTGAGAAGAAAG 0.438 21 37 --- --- --- --- PASS OR51B6 390058 broad.mit.edu 37 11 5373352 5373352 + Silent SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr11:5373352C>G uc010qzb.1 + 1 615 c.615C>G c.(613-615)GTC>GTG p.V205V HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTGCAATGGTCTTGTTGGACT 0.443 13 33 --- --- --- --- PASS MYOD1 4654 broad.mit.edu 37 11 17741491 17741491 + Silent SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr11:17741491C>A uc001mni.2 + 1 382 c.162C>A c.(160-162)GGC>GGA p.G54G NM_002478 NP_002469 P15172 MYOD1_HUMAN myogenic differentiation 1 54 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development nuclear chromatin|transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity breast(2)|ovary(1) 3 TGCACGTGGGCGCGCTCCTGA 0.687 11 4 --- --- --- --- PASS MRGPRX1 259249 broad.mit.edu 37 11 18955986 18955986 + Missense_Mutation SNP C G G rs145122494 TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr11:18955986C>G uc001mpg.2 - 1 564 c.346G>C c.(346-348)GTG>CTG p.V116L NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 116 Helical; Name=3; (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 TCGGTGCTCACGGCACTCAGA 0.567 25 31 --- --- --- --- PASS OR4C11 219429 broad.mit.edu 37 11 55371721 55371721 + Silent SNP A T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr11:55371721A>T uc010rii.1 - 1 129 c.129T>A c.(127-129)ATT>ATA p.I43I NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGGTCACAATAATGAGCATAT 0.403 27 30 --- --- --- --- PASS OR5M9 390162 broad.mit.edu 37 11 56230073 56230073 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr11:56230073C>A uc010rjj.1 - 1 805 c.805G>T c.(805-807)GGC>TGC p.G269C NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 269 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) ACCATTTTGCCCTGCTCTACG 0.458 19 19 --- --- --- --- PASS NXF1 10482 broad.mit.edu 37 11 62569222 62569222 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr11:62569222C>T uc001nvf.1 - 6 764 c.628G>A c.(628-630)GAA>AAA p.E210K NXF1_uc001nvg.1_Missense_Mutation_p.E210K|NXF1_uc009yog.1_Missense_Mutation_p.E253K|NXF1_uc010rmh.1_Missense_Mutation_p.E73K NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 isoform 1 210 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(3) 3 TTTAGCTGTTCTACTTGTTCT 0.473 101 58 --- --- --- --- PASS SLCO2B1 11309 broad.mit.edu 37 11 74883491 74883491 + Silent SNP T A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr11:74883491T>A uc001owb.2 + 7 1236 c.849T>A c.(847-849)GCT>GCA p.A283A SLCO2B1_uc010rrq.1_Silent_p.A28A|SLCO2B1_uc010rrr.1_Silent_p.A139A|SLCO2B1_uc010rrs.1_Silent_p.A167A|SLCO2B1_uc001owc.2_Silent_p.A56A|SLCO2B1_uc001owd.2_Silent_p.A261A NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 283 Helical; Name=6; (Potential). sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) TCCTCATCGCTGCCGGTGCAG 0.562 25 25 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92495111 92495111 + Silent SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr11:92495111G>A uc001pdj.3 + 4 3776 c.3759G>A c.(3757-3759)CAG>CAA p.Q1253Q NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1253 Cadherin 11.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACAAGCCCCAGTTCCCAGAGA 0.483 TCGA Ovarian(4;0.039) 109 91 --- --- --- --- PASS CD3D 915 broad.mit.edu 37 11 118211200 118211200 + Missense_Mutation SNP A T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr11:118211200A>T uc001pss.1 - 2 301 c.164T>A c.(163-165)ATT>AAT p.I55N CD3D_uc001pst.1_Missense_Mutation_p.I55N NM_000732 NP_000723 P04234 CD3D_HUMAN CD3 antigen, delta subunit isoform A precursor 55 Extracellular (Potential). positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway cytoplasm|integral to membrane protein heterodimerization activity ovary(1) 1 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) CAGTCTTGTAATGTCTGAGAG 0.448 13 25 --- --- --- --- PASS OR8B2 26595 broad.mit.edu 37 11 124252427 124252427 + Missense_Mutation SNP T G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr11:124252427T>G uc010sai.1 - 1 813 c.813A>C c.(811-813)AAA>AAC p.K271N NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, 271 Helical; Name=7; (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) CAGAAGAAACTTTTCCCTGCT 0.418 13 73 --- --- --- --- PASS OR8B2 26595 broad.mit.edu 37 11 124252924 124252924 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr11:124252924A>G uc010sai.1 - 1 316 c.316T>C c.(316-318)TTT>CTT p.F106L NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, 106 Helical; Name=3; (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) ATGACGAAAAAGAGAAAGAAA 0.388 61 48 --- --- --- --- PASS LST-3TM12 338821 broad.mit.edu 37 12 21175876 21175876 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr12:21175876G>T uc010sin.1 + 4 433 c.433G>T c.(433-435)GGG>TGG p.G145W SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.G192W NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 145 membrane transporter activity 0 AGTACCATTGGGGATTTCTTA 0.383 10 21 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43858395 43858395 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr12:43858395A>G uc010skx.1 - 10 1508 c.1508T>C c.(1507-1509)ATA>ACA p.I503T NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 503 Disintegrin. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTTTCTTACTATATGGGGACA 0.338 16 37 --- --- --- --- PASS ERBB3 2065 broad.mit.edu 37 12 56495001 56495001 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr12:56495001A>G uc001sjh.2 + 27 3551 c.3358A>G c.(3358-3360)AGG>GGG p.R1120G ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.R477G|ERBB3_uc010sqc.1_Missense_Mutation_p.R1061G|ERBB3_uc009zok.2_Missense_Mutation_p.R385G|ERBB3_uc001sjk.2_Missense_Mutation_p.R361G|ERBB3_uc001sjl.2_Missense_Mutation_p.R240G NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 1120 Cytoplasmic (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GAGCCGGAGCAGGAGCCGGAG 0.612 13 17 --- --- --- --- PASS GEFT 115557 broad.mit.edu 37 12 58006770 58006770 + Missense_Mutation SNP T G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr12:58006770T>G uc001spb.2 + 2 615 c.155T>G c.(154-156)CTG>CGG p.L52R GEFT_uc009zpy.2_Missense_Mutation_p.L91R|GEFT_uc001soz.1_Intron|GEFT_uc001spa.2_Intron|uc001spc.2_RNA|GEFT_uc001spd.2_5'Flank NM_182947 NP_891992 Q86VW2 ARHGP_HUMAN RhoA/RAC/CDC42 exchange factor isoform 1 52 regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity 0 Melanoma(17;0.122) GCCTCCGGTCTGGCTGCCCCc 0.493 14 44 --- --- --- --- PASS DYRK2 8445 broad.mit.edu 37 12 68051334 68051334 + Missense_Mutation SNP A T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr12:68051334A>T uc001str.3 + 3 1049 c.647A>T c.(646-648)GAT>GTT p.D216V DYRK2_uc001sts.3_Missense_Mutation_p.D143V NM_006482 NP_006473 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 216 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(1)|central_nervous_system(1) 4 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) GTGCCCCACGATCACGTGGCT 0.552 4 25 --- --- --- --- PASS MGAT4C 25834 broad.mit.edu 37 12 86374058 86374058 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr12:86374058C>T uc001tai.3 - 8 1696 c.446G>A c.(445-447)CGT>CAT p.R149H MGAT4C_uc001tal.3_Missense_Mutation_p.R149H|MGAT4C_uc001taj.3_Missense_Mutation_p.R149H|MGAT4C_uc001tak.3_Missense_Mutation_p.R149H|MGAT4C_uc010sum.1_Missense_Mutation_p.R173H|MGAT4C_uc001tah.3_Missense_Mutation_p.R149H NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 149 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 CATGGCATCACGCCAGGAAGA 0.398 5 34 --- --- --- --- PASS IKBIP 121457 broad.mit.edu 37 12 99007962 99007962 + Missense_Mutation SNP G C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr12:99007962G>C uc001tfv.2 - 3 564 c.454C>G c.(454-456)CAA>GAA p.Q152E IKBIP_uc001tfw.2_3'UTR NM_201612 NP_963906 Q70UQ0 IKIP_HUMAN IKK interacting protein isoform 2 152 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding 0 GTAATGTCTTGAGAAAGCGTC 0.363 6 54 --- --- --- --- PASS SCYL2 55681 broad.mit.edu 37 12 100709335 100709335 + Splice_Site SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr12:100709335G>T uc001thn.2 + 9 1146 c.1096_splice c.e9-1 p.R366_splice SCYL2_uc009ztw.1_Splice_Site_p.R193_splice|SCYL2_uc001thm.1_Splice_Site_p.R366_splice NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN SCY1-like 2 protein endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding lung(3)|ovary(2)|skin(1) 6 TTGCCTTTCAGCGTGTCATTG 0.318 12 22 --- --- --- --- PASS NR1H4 9971 broad.mit.edu 37 12 100897258 100897258 + Missense_Mutation SNP T A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr12:100897258T>A uc001tht.1 + 1 121 c.93T>A c.(91-93)AGT>AGA p.S31R NR1H4_uc001thp.1_Intron|NR1H4_uc001thq.1_Intron|NR1H4_uc010svj.1_Intron|NR1H4_uc001thr.1_Intron|NR1H4_uc010svk.1_Intron|NR1H4_uc001ths.1_Missense_Mutation_p.S31R NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 31 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 AAATGATGAGTATGAAGCCCG 0.463 4 23 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104133214 104133214 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr12:104133214A>G uc001tjw.2 + 54 5908 c.5722A>G c.(5722-5724)ACT>GCT p.T1908A STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1908 Extracellular (Potential). 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 CTGTGTCAATACTCCCAGCTG 0.398 4 34 --- --- --- --- PASS NAA25 80018 broad.mit.edu 37 12 112481660 112481660 + Silent SNP T C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr12:112481660T>C uc001ttm.2 - 18 2039 c.2019A>G c.(2017-2019)GAA>GAG p.E673E NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Silent_p.E645E|NAA25_uc009zwa.1_Silent_p.E673E NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 673 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 TCTTATGTTCTTCAGAAACGT 0.333 8 49 --- --- --- --- PASS GPR12 2835 broad.mit.edu 37 13 27333507 27333507 + Missense_Mutation SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr13:27333507G>A uc010aal.2 - 2 680 c.458C>T c.(457-459)ACG>ATG p.T153M GPR12_uc010tdl.1_Translation_Start_Site NM_005288 NP_005279 P47775 GPR12_HUMAN G protein-coupled receptor 12 153 Cytoplasmic (Potential). integral to plasma membrane 0 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) AAACGTGACCGTCCTCTCCGA 0.577 8 52 --- --- --- --- PASS NUFIP1 26747 broad.mit.edu 37 13 45517626 45517626 + Missense_Mutation SNP T A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr13:45517626T>A uc001uzp.2 - 9 1364 c.1322A>T c.(1321-1323)TAT>TTT p.Y441F NM_012345 NP_036477 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein 441 box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding 0 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) TAACGTTTGATAGTTGTGATA 0.323 29 33 --- --- --- --- PASS EDNRB 1910 broad.mit.edu 37 13 78492558 78492558 + Missense_Mutation SNP T C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr13:78492558T>C uc001vko.2 - 1 409 c.151A>G c.(151-153)AAG>GAG p.K51E uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.K51E|EDNRB_uc010aez.1_Missense_Mutation_p.K51E|EDNRB_uc001vkp.1_Missense_Mutation_p.K134E|EDNRB_uc010afa.1_Missense_Mutation_p.K51E NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 51 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) CATAAGGTCTTAGTGGGTGGC 0.632 22 23 --- --- --- --- PASS GPC5 2262 broad.mit.edu 37 13 92345764 92345764 + Missense_Mutation SNP A T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr13:92345764A>T uc010tif.1 + 3 1015 c.649A>T c.(649-651)AGG>TGG p.R217W NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 217 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) ACAGATGGGGAGGTCCCTGCT 0.522 11 13 --- --- --- --- PASS SLC10A2 6555 broad.mit.edu 37 13 103705015 103705015 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr13:103705015C>T uc001vpy.3 - 3 1137 c.540G>A c.(538-540)ATG>ATA p.M180I NM_000452 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid 180 Extracellular (Potential). bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(3)|skin(1) 4 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GATTAACAAACATTCCAATGG 0.388 32 30 --- --- --- --- PASS OR4K5 79317 broad.mit.edu 37 14 20388876 20388876 + Silent SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr14:20388876C>A uc010tkw.1 + 1 111 c.111C>A c.(109-111)GTC>GTA p.V37V NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 37 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTATACAGTCATTGTGCTGG 0.408 10 88 --- --- --- --- PASS KCNH5 27133 broad.mit.edu 37 14 63246548 63246548 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr14:63246548G>T uc001xfx.2 - 10 1968 c.1917C>A c.(1915-1917)CAC>CAA p.H639Q KCNH5_uc001xfy.2_Intron|KCNH5_uc001xfz.1_Missense_Mutation_p.H581Q NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 639 cNMP.|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) GCTTGATGATGTGTAGGTCAC 0.478 28 40 --- --- --- --- PASS SNW1 22938 broad.mit.edu 37 14 78187074 78187074 + Missense_Mutation SNP T C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr14:78187074T>C uc001xuf.2 - 12 1255 c.1228A>G c.(1228-1230)AGG>GGG p.R410G SNW1_uc010tvm.1_Missense_Mutation_p.R335G|SNW1_uc010asu.2_Missense_Mutation_p.R248G|SNW1_uc010tvn.1_Missense_Mutation_p.R410G NM_012245 NP_036377 Q13573 SNW1_HUMAN SKI-interacting protein 410 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) TTGAAGAGCCTTTGGTCATAC 0.393 29 66 --- --- --- --- PASS SNW1 22938 broad.mit.edu 37 14 78187123 78187123 + Silent SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr14:78187123A>G uc001xuf.2 - 12 1206 c.1179T>C c.(1177-1179)GCT>GCC p.A393A SNW1_uc010tvm.1_Silent_p.A318A|SNW1_uc010asu.2_Silent_p.A231A|SNW1_uc010tvn.1_Silent_p.A393A NM_012245 NP_036377 Q13573 SNW1_HUMAN SKI-interacting protein 393 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) GAACACCGAGAGCAATAACTT 0.388 24 55 --- --- --- --- PASS SNW1 22938 broad.mit.edu 37 14 78187124 78187124 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr14:78187124G>T uc001xuf.2 - 12 1205 c.1178C>A c.(1177-1179)GCT>GAT p.A393D SNW1_uc010tvm.1_Missense_Mutation_p.A318D|SNW1_uc010asu.2_Missense_Mutation_p.A231D|SNW1_uc010tvn.1_Missense_Mutation_p.A393D NM_012245 NP_036377 Q13573 SNW1_HUMAN SKI-interacting protein 393 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) AACACCGAGAGCAATAACTTC 0.383 24 54 --- --- --- --- PASS NRXN3 9369 broad.mit.edu 37 14 79432744 79432744 + Silent SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr14:79432744C>A uc001xun.2 + 9 2144 c.1653C>A c.(1651-1653)GTC>GTA p.V551V NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.V676V NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 924 Extracellular (Potential).|Laminin G-like 5. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TCGAGCTTGTCAAGGGGTAAG 0.423 12 77 --- --- --- --- PASS JAG2 3714 broad.mit.edu 37 14 105615534 105615534 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr14:105615534C>T uc001yqg.2 - 13 2130 c.1726G>A c.(1726-1728)GAG>AAG p.E576K JAG2_uc010axf.2_5'Flank|JAG2_uc001yqf.2_5'UTR|JAG2_uc001yqh.2_Missense_Mutation_p.E538K NM_002226 NP_002217 Q9Y219 JAG2_HUMAN jagged 2 isoform a precursor 576 Extracellular (Potential).|EGF-like 10; atypical. auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding lung(3)|breast(2) 5 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) GGGCACGGCTCGCGGGGCACG 0.677 8 37 --- --- --- --- PASS GABRA5 2558 broad.mit.edu 37 15 27185220 27185220 + Silent SNP T G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr15:27185220T>G uc001zbd.1 + 10 1212 c.873T>G c.(871-873)GTT>GTG p.V291V GABRB3_uc001zbb.2_5'Flank NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 291 Helical; (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCAGGACAGTTTTTGGTGAGT 0.522 3 16 --- --- --- --- PASS CHRM5 1133 broad.mit.edu 37 15 34355670 34355670 + Missense_Mutation SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr15:34355670G>A uc001zhk.1 + 3 1422 c.752G>A c.(751-753)AGA>AAA p.R251K CHRM5_uc001zhl.1_Missense_Mutation_p.R251K NM_012125 NP_036257 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 251 Cytoplasmic (By similarity). cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(1)|central_nervous_system(1) 2 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) GCTCTGTTCAGATCCTGCTTG 0.602 14 66 --- --- --- --- PASS SLC12A6 9990 broad.mit.edu 37 15 34553129 34553129 + Missense_Mutation SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr15:34553129C>G uc001zhw.2 - 3 573 c.409G>C c.(409-411)GAG>CAG p.E137Q SLC12A6_uc001zhv.2_Missense_Mutation_p.E86Q|SLC12A6_uc001zhx.2_Missense_Mutation_p.E122Q|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.E78Q|SLC12A6_uc001zib.2_Missense_Mutation_p.E128Q|SLC12A6_uc001zic.2_Missense_Mutation_p.E137Q|SLC12A6_uc010bau.2_Missense_Mutation_p.E137Q|SLC12A6_uc001zid.2_Missense_Mutation_p.E78Q|SLC12A6_uc001zhu.2_5'UTR NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 137 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) AATATTACCTCAAAGAGTGCC 0.333 5 18 --- --- --- --- PASS TYRO3 7301 broad.mit.edu 37 15 41857334 41857334 + Missense_Mutation SNP G C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr15:41857334G>C uc001zof.1 + 6 1002 c.778G>C c.(778-780)GTT>CTT p.V260L NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 260 Fibronectin type-III 1.|Extracellular (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GTCCTGTACAGTTCAGGTAGG 0.587 4 29 --- --- --- --- PASS ZFP106 64397 broad.mit.edu 37 15 42720257 42720257 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr15:42720257C>A uc001zpw.2 - 12 5223 c.4888G>T c.(4888-4890)GCG>TCG p.A1630S ZFP106_uc001zpu.2_Missense_Mutation_p.A728S|ZFP106_uc001zpv.2_Missense_Mutation_p.A815S|ZFP106_uc001zpx.2_Missense_Mutation_p.A858S NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 1630 nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) GCCAGTCCCGCATAGAGGATT 0.493 10 63 --- --- --- --- PASS SEMA6D 80031 broad.mit.edu 37 15 48063828 48063828 + Missense_Mutation SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr15:48063828C>G uc010bek.2 + 19 3428 c.3068C>G c.(3067-3069)CCT>CGT p.P1023R SEMA6D_uc001zvw.2_Missense_Mutation_p.P961R|SEMA6D_uc001zvy.2_Missense_Mutation_p.P1023R|SEMA6D_uc001zvz.2_Missense_Mutation_p.P967R|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.P961R|SEMA6D_uc001zwc.2_Missense_Mutation_p.P948R NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 1023 Cytoplasmic (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CATCTGCAGCCTTCCCTCTCC 0.542 18 111 --- --- --- --- PASS HDC 3067 broad.mit.edu 37 15 50534871 50534871 + Missense_Mutation SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr15:50534871C>G uc001zxz.2 - 12 1681 c.1575G>C c.(1573-1575)CAG>CAC p.Q525H HDC_uc001zxy.2_Missense_Mutation_p.Q268H|HDC_uc010uff.1_Missense_Mutation_p.Q492H NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 525 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CACGCTGAGGCTGCTTGATGA 0.577 8 18 --- --- --- --- PASS LMAN1L 79748 broad.mit.edu 37 15 75108845 75108845 + Silent SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr15:75108845C>A uc002ayt.1 + 3 410 c.408C>A c.(406-408)ATC>ATA p.I136I LMAN1L_uc010bkd.2_Silent_p.I64I|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Silent_p.I136I NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like precursor 136 Lumenal (Potential).|L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding 0 GCATCGGGATCTTCTTTGACT 0.502 6 32 --- --- --- --- PASS RASGRF1 5923 broad.mit.edu 37 15 79296437 79296437 + Missense_Mutation SNP C T T rs150222693 TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr15:79296437C>T uc002beq.2 - 16 2579 c.2204G>A c.(2203-2205)CGC>CAC p.R735H RASGRF1_uc002bep.2_Missense_Mutation_p.R719H|RASGRF1_uc010blm.1_Missense_Mutation_p.R644H|RASGRF1_uc002ber.3_Missense_Mutation_p.R719H|RASGRF1_uc010unh.1_Missense_Mutation_p.R130H|RASGRF1_uc002beo.2_5'UTR NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 735 N-terminal Ras-GEF. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 GGAGAACTTGCGGGTGGCGCG 0.647 8 27 --- --- --- --- PASS BCL2A1 597 broad.mit.edu 37 15 80253456 80253456 + Missense_Mutation SNP T A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr15:80253456T>A uc002bfc.3 - 2 663 c.481A>T c.(481-483)ACA>TCA p.T161S BCL2A1_uc002bfd.3_3'UTR NM_004049 NP_004040 Q16548 B2LA1_HUMAN BCL2-related protein A1 isoform 1 161 anti-apoptosis|apoptosis cytoplasm protein binding pancreas(1) 1 ATCTTTCCTGTAACTTCTAGA 0.353 11 28 --- --- --- --- PASS MEF2A 4205 broad.mit.edu 37 15 100211761 100211761 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr15:100211761C>T uc010urw.1 + 4 654 c.295C>T c.(295-297)CCA>TCA p.P99S MEF2A_uc010urv.1_Intron|MEF2A_uc010bos.2_Intron|MEF2A_uc002bvf.2_Missense_Mutation_p.P99S|MEF2A_uc002bve.2_Intron|MEF2A_uc002bvg.2_Intron|MEF2A_uc002bvi.2_Intron|MEF2A_uc010bot.2_Intron NM_005587 NP_005578 Q02078 MEF2A_HUMAN myocyte enhancer factor 2A isoform 1 99 apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding ovary(1) 1 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) GTGCGACAGCCCAGACCCTGA 0.333 3 12 --- --- --- --- PASS SOLH 6650 broad.mit.edu 37 16 603410 603410 + Missense_Mutation SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr16:603410G>A uc002chi.2 + 14 3518 c.3155G>A c.(3154-3156)CGC>CAC p.R1052H SOLH_uc002chj.2_Missense_Mutation_p.R112H NM_005632 NP_005623 O75808 CAN15_HUMAN small optic lobes 1052 proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1) 2 Hepatocellular(780;0.00335) CTGGCACATCGCAAGGCAGCC 0.677 14 35 --- --- --- --- PASS SSTR5 6755 broad.mit.edu 37 16 1129327 1129327 + Silent SNP G T T rs141899937 TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr16:1129327G>T uc002ckq.2 + 1 547 c.459G>T c.(457-459)CCG>CCT p.P153P LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank NM_001053 NP_001044 P35346 SSR5_HUMAN somatostatin receptor 5 153 Cytoplasmic (Potential). negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity lung(1) 1 Hepatocellular(780;0.00369) Octreotide(DB00104) GGCGCCGCCCGCGTGTGGCCA 0.687 7 5 --- --- --- --- PASS MAPK8IP3 23162 broad.mit.edu 37 16 1798307 1798307 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr16:1798307G>T uc002cmk.2 + 7 1174 c.1054G>T c.(1054-1056)GAC>TAC p.D352Y MAPK8IP3_uc002cml.2_Missense_Mutation_p.D352Y|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.D353Y NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 352 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 GCCAGAGCTGGACATGTGTCC 0.607 17 20 --- --- --- --- PASS MEFV 4210 broad.mit.edu 37 16 3306572 3306572 + Missense_Mutation SNP T C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr16:3306572T>C uc002cun.1 - 1 56 c.16A>G c.(16-18)AGT>GGT p.S6G NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 6 DAPIN. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) AGATGGTCACTAGGGGTCTTA 0.552 12 41 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3823884 3823884 + Silent SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr16:3823884A>G uc002cvv.2 - 13 2535 c.2331T>C c.(2329-2331)GGT>GGC p.G777G CREBBP_uc002cvw.2_Silent_p.G739G NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 777 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGGTGTGTGCACCCATCATGT 0.587 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 24 52 --- --- --- --- PASS PARN 5073 broad.mit.edu 37 16 14576629 14576629 + Silent SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr16:14576629A>G uc010uzd.1 - 22 1678 c.1536T>C c.(1534-1536)TAT>TAC p.Y512Y PARN_uc010uzc.1_Silent_p.Y451Y|PARN_uc010uze.1_Silent_p.Y466Y|PARN_uc010uzf.1_Silent_p.Y337Y NM_002582 NP_002573 O95453 PARN_HUMAN poly(A)-specific ribonuclease (deadenylation 512 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding ovary(2) 2 TTCTCCCCATATATTCAGCAT 0.413 8 25 --- --- --- --- PASS GP2 2813 broad.mit.edu 37 16 20335162 20335162 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr16:20335162A>G uc002dgv.2 - 3 594 c.511T>C c.(511-513)TGG>CGG p.W171R GP2_uc002dgw.2_Missense_Mutation_p.W171R|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 171 anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 AGATTACACCAGGGAGTGCCT 0.577 5 11 --- --- --- --- PASS PDILT 204474 broad.mit.edu 37 16 20370844 20370844 + Missense_Mutation SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr16:20370844C>G uc002dhc.1 - 12 1775 c.1552G>C c.(1552-1554)GCT>CCT p.A518P NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 518 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 TTTTCCTCAGCTAGCACTTCC 0.383 25 54 --- --- --- --- PASS LOC81691 81691 broad.mit.edu 37 16 20839834 20839834 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr16:20839834A>G uc002dhv.2 + 11 1396 c.1133A>G c.(1132-1134)TAT>TGT p.Y378C ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.Y378C|LOC81691_uc002dhw.2_Missense_Mutation_p.Y121C|LOC81691_uc002dhy.3_Missense_Mutation_p.Y378C NM_030941 NP_112203 Q96IC2 REXON_HUMAN exonuclease NEF-sp isoform 1 378 nucleolus exonuclease activity|nucleotide binding|RNA binding ovary(1)|kidney(1) 2 TTGGCTCGGTATTTCCTTAAG 0.398 23 28 --- --- --- --- PASS AQP8 343 broad.mit.edu 37 16 25238511 25238511 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr16:25238511G>T uc002doc.2 + 5 807 c.725G>T c.(724-726)GGA>GTA p.G242V NM_001169 NP_001160 O94778 AQP8_HUMAN aquaporin 8 242 Helical; (Potential). cellular response to cAMP integral to plasma membrane water channel activity upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(48;0.044) CTGCTTGTTGGACTGCTCATT 0.597 5 27 --- --- --- --- PASS MAZ 4150 broad.mit.edu 37 16 29818992 29818992 + Nonsense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr16:29818992C>T uc002dty.2 + 2 1054 c.886C>T c.(886-888)CGA>TGA p.R296* uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Nonsense_Mutation_p.R273*|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Nonsense_Mutation_p.R296*|MAZ_uc010bzg.2_Intron|MAZ_uc002dtz.1_Nonsense_Mutation_p.R14*|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank NM_002383 NP_002374 P56270 MAZ_HUMAN MYC-associated zinc finger protein isoform 1 296 C2H2-type 2. regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 CCACCTGAACCGACACAAGCT 0.642 5 20 --- --- --- --- PASS ABCC11 85320 broad.mit.edu 37 16 48209318 48209318 + Silent SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr16:48209318G>A uc002eff.1 - 25 3899 c.3549C>T c.(3547-3549)TCC>TCT p.S1183S ABCC11_uc002efg.1_Silent_p.S1183S|ABCC11_uc002efh.1_Silent_p.S1183S|ABCC11_uc010cbg.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 1183 ABC transporter 2.|Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CCATGCCCAAGGAGGACTTCC 0.612 Cerumen_Type 8 12 --- --- --- --- PASS LDHD 197257 broad.mit.edu 37 16 75147555 75147555 + Missense_Mutation SNP T C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr16:75147555T>C uc002fdm.2 - 8 1080 c.1033A>G c.(1033-1035)ATA>GTA p.I345V LDHD_uc002fdn.2_Missense_Mutation_p.I322V NM_153486 NP_705690 Q86WU2 LDHD_HUMAN D-lactate dehydrogenase isoform 1 precursor 345 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding 0 TGCTGGACTATCTCCTCTGCA 0.667 4 13 --- --- --- --- PASS CLEC3A 10143 broad.mit.edu 37 16 78064611 78064611 + Missense_Mutation SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr16:78064611G>A uc002ffh.3 + 3 548 c.467G>A c.(466-468)CGT>CAT p.R156H NM_005752 NP_005743 O75596 CLC3A_HUMAN C-type lectin domain family 3 member A 156 C-type lectin. skeletal system development extracellular region sugar binding 0 AACTGGGACCGTGCACAGCCT 0.532 17 44 --- --- --- --- PASS CTU2 348180 broad.mit.edu 37 16 88781041 88781041 + Silent SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr16:88781041G>A uc002flm.2 + 12 1296 c.1248G>A c.(1246-1248)CAG>CAA p.Q416Q CTU2_uc002fln.2_Silent_p.Q416Q|CTU2_uc010chz.2_Silent_p.Q487Q|CTU2_uc010cia.2_Silent_p.Q329Q NM_001012759 NP_001012777 Q2VPK5 CTU2_HUMAN cytoplasmic tRNA 2-thiolation protein 2 isoform 416 tRNA thio-modification|tRNA wobble uridine modification cytoplasm|protein complex|soluble fraction protein binding skin(1) 1 GTCTCTCCCAGATGCAGTCAC 0.697 15 27 --- --- --- --- PASS OR3A4 390756 broad.mit.edu 37 17 3213890 3213890 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr17:3213890C>T uc002fvi.2 + 1 352 c.286C>T c.(286-288)CCC>TCC p.P96S NR_024128 RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24; Short=OR17-24; ovary(1) 1 CAGAAGCATTCCCTATAAGGC 0.547 16 17 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7573982 7573982 + Nonsense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr17:7573982C>A uc002gim.2 - 10 1239 c.1045G>T c.(1045-1047)GAA>TAA p.E349* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.E217*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.E349* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 349 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2. E -> D (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.E349*(5)|p.E349fs*21(2)|p.I332fs*5(1)|p.?(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) TCCTTGAGTTCCAAGGCCTCA 0.567 111 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) 12 11 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7573983 7573983 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr17:7573983C>A uc002gim.2 - 10 1238 c.1044G>T c.(1042-1044)TTG>TTT p.L348F TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.L216F|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.L348F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 348 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2. L -> S (in a sporadic cancer; somatic mutation).|L -> F (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.L348F(2)|p.L348*(2)|p.L348fs*22(1)|p.L348fs*0(1)|p.?(1)|p.I332fs*5(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTGAGTTCCAAGGCCTCAT 0.567 111 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) 12 11 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10352030 10352030 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr17:10352030C>T uc002gmn.2 - 32 4547 c.4436G>A c.(4435-4437)CGT>CAT p.R1479H uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1479 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GCTGAGAGAACGCGACTCCTT 0.448 6 38 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10442558 10442558 + Missense_Mutation SNP G C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr17:10442558G>C uc010coi.2 - 14 1508 c.1380C>G c.(1378-1380)ATC>ATG p.I460M uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.I460M|MYH2_uc010coj.2_Missense_Mutation_p.I460M NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 460 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CCAAGACCCCGATGAAGTACT 0.478 49 71 --- --- --- --- PASS SEZ6 124925 broad.mit.edu 37 17 27285076 27285076 + Missense_Mutation SNP C T T rs139179377 by1000genomes TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr17:27285076C>T uc002hdp.2 - 11 2385 c.2191G>A c.(2191-2193)GGC>AGC p.G731S SEZ6_uc010crx.1_5'Flank|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.G731S|SEZ6_uc002hdq.1_Missense_Mutation_p.G606S NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN seizure related 6 homolog isoform 1 731 Extracellular (Potential).|Sushi 3. integral to membrane|plasma membrane large_intestine(1)|central_nervous_system(1) 2 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) ACCACGGTGCCGTGCACTAGC 0.612 11 62 --- --- --- --- PASS ADAM11 4185 broad.mit.edu 37 17 42848951 42848951 + Splice_Site SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr17:42848951G>A uc002ihh.2 + 5 382 c.382_splice c.e5-1 p.G128_splice ADAM11_uc010wjd.1_Splice_Site NM_002390 NP_002381 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 preproprotein integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) TGCTCCTTCAGGGGGCTGGAG 0.647 27 61 --- --- --- --- PASS MPO 4353 broad.mit.edu 37 17 56355373 56355373 + Missense_Mutation SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr17:56355373C>G uc002ivu.1 - 7 1196 c.1019G>C c.(1018-1020)AGC>ACC p.S340T NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 340 Calcium. anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) GTACACCATGCTGGCGTCCAC 0.647 6 80 --- --- --- --- PASS TRIM37 4591 broad.mit.edu 37 17 57158532 57158532 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr17:57158532C>A uc002iwy.3 - 6 862 c.418G>T c.(418-420)GTC>TTC p.V140F TRIM37_uc002iwz.3_Missense_Mutation_p.V140F|TRIM37_uc002ixa.3_Missense_Mutation_p.V18F|TRIM37_uc010woc.1_Missense_Mutation_p.V106F NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 140 Potential. perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) ACTTTAGTGACGTGTTGCTCA 0.368 Mulibrey_Nanism 24 71 --- --- --- --- PASS USP36 57602 broad.mit.edu 37 17 76795011 76795011 + Silent SNP G A A rs148007252 TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr17:76795011G>A uc002jvz.1 - 19 3544 c.3219C>T c.(3217-3219)GAC>GAT p.D1073D USP36_uc002jwa.1_Silent_p.D1073D|USP36_uc002jvy.1_Silent_p.D133D NM_025090 NP_079366 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 1071 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CAAACTCTTCGTCCCAGTCAT 0.587 16 130 --- --- --- --- PASS C17orf55 284185 broad.mit.edu 37 17 79279081 79279081 + Silent SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr17:79279081C>T uc002kac.1 - 4 513 c.84G>A c.(82-84)AGG>AGA p.R28R NM_178519 NP_848614 hypothetical protein LOC284185 0 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GATGAGCTGCCCTGTACCATG 0.672 3 9 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5397253 5397253 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr18:5397253G>T uc002kmt.1 - 18 2731 c.2645C>A c.(2644-2646)GCA>GAA p.A882E EPB41L3_uc010wzh.1_Missense_Mutation_p.A713E|EPB41L3_uc002kmu.1_Missense_Mutation_p.A660E|EPB41L3_uc010dkq.1_Missense_Mutation_p.A551E|EPB41L3_uc002kms.1_Missense_Mutation_p.A117E|EPB41L3_uc010wze.1_Missense_Mutation_p.A187E|EPB41L3_uc010wzf.1_Missense_Mutation_p.A179E|EPB41L3_uc010wzg.1_Missense_Mutation_p.A154E|EPB41L3_uc010dkr.2_Missense_Mutation_p.A274E NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 882 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 TGCGGGCTGTGCTGCAGCATC 0.612 20 60 --- --- --- --- PASS NPC1 4864 broad.mit.edu 37 18 21115532 21115532 + Missense_Mutation SNP G C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr18:21115532G>C uc002kum.3 - 22 3652 c.3378C>G c.(3376-3378)ATC>ATG p.I1126M NPC1_uc010dlu.1_5'Flank|NPC1_uc010xaz.1_Missense_Mutation_p.I859M NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor 1126 Helical; (Potential). autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity ovary(2) 2 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) TGGCACACATGATGACTGCAG 0.537 17 20 --- --- --- --- PASS FAM59A 64762 broad.mit.edu 37 18 29848546 29848546 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr18:29848546C>A uc002kxl.2 - 6 1975 c.1919G>T c.(1918-1920)AGT>ATT p.S640I FAM59A_uc002kxk.1_Missense_Mutation_p.S639I NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 640 ovary(1)|skin(1) 2 CAGGAAGTCACTCCTGGTCTG 0.502 12 23 --- --- --- --- PASS LIPG 9388 broad.mit.edu 37 18 47107969 47107969 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr18:47107969G>T uc002ldv.2 + 6 1230 c.978G>T c.(976-978)ATG>ATT p.M326I LIPG_uc002ldu.1_Missense_Mutation_p.M326I|LIPG_uc010xdh.1_Missense_Mutation_p.M252I NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 326 Heparin-binding (By similarity). cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 CCAAGAAAATGAGGAACAAGA 0.493 50 81 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56246130 56246130 + Silent SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr18:56246130G>A uc002lhj.3 - 4 2092 c.1878C>T c.(1876-1878)GGC>GGT p.G626G NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 626 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 AATTTGTGTTGCCTTCTTTGG 0.438 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 76 --- --- --- --- PASS CCDC102B 79839 broad.mit.edu 37 18 66504606 66504606 + Silent SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr18:66504606G>A uc002lkk.2 + 4 829 c.606G>A c.(604-606)AAG>AAA p.K202K CCDC102B_uc002lki.2_Silent_p.K202K|CCDC102B_uc002lkj.1_Silent_p.K202K NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 202 ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) CAAATAATAAGGTAAGAAAAA 0.323 10 80 --- --- --- --- PASS ZNF407 55628 broad.mit.edu 37 18 72346027 72346027 + Nonsense_Mutation SNP A T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr18:72346027A>T uc002llw.2 + 1 3109 c.3052A>T c.(3052-3054)AAG>TAG p.K1018* ZNF407_uc010xfc.1_Nonsense_Mutation_p.K1018*|ZNF407_uc010dqu.1_Nonsense_Mutation_p.K1018*|ZNF407_uc002llu.2_Nonsense_Mutation_p.K1017* NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 1018 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) AGGTGAGAATAAGTGTTTGCA 0.448 39 74 --- --- --- --- PASS TMEM146 257062 broad.mit.edu 37 19 5776198 5776198 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:5776198C>A uc002mda.2 + 21 2029 c.1968C>A c.(1966-1968)AAC>AAA p.N656K NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 656 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 ACGACCCCAACAACAATGCCC 0.592 10 36 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9046849 9046849 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:9046849G>T uc002mkp.2 - 5 34986 c.34782C>A c.(34780-34782)AAC>AAA p.N11594K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11596 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 TATGGGAAAAGTTGGGAATTG 0.517 6 49 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9075949 9075949 + Missense_Mutation SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:9075949C>G uc002mkp.2 - 3 11701 c.11497G>C c.(11497-11499)GCA>CCA p.A3833P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3834 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 AGAGTTGTTGCTGCTGATCTG 0.502 15 94 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9084683 9084683 + Missense_Mutation SNP T C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:9084683T>C uc002mkp.2 - 1 7336 c.7132A>G c.(7132-7134)ATA>GTA p.I2378V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2378 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAAGAAGCTATGGAGGTGTTG 0.438 18 38 --- --- --- --- PASS OR7D2 162998 broad.mit.edu 37 19 9297245 9297245 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:9297245C>T uc002mkz.1 + 1 976 c.788C>T c.(787-789)GCG>GTG p.A263V NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, 263 Extracellular (Potential). regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|upper_aerodigestive_tract(1) 3 TTCACTTCTGCGGTGACTCAC 0.507 7 67 --- --- --- --- PASS COL5A3 50509 broad.mit.edu 37 19 10071197 10071197 + Missense_Mutation SNP T A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:10071197T>A uc002mmq.1 - 67 5214 c.5128A>T c.(5128-5130)AGC>TGC p.S1710C NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1710 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CGAGAAGAGCTGAATTCGAAA 0.572 24 57 --- --- --- --- PASS RGL3 57139 broad.mit.edu 37 19 11527293 11527293 + Silent SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:11527293G>A uc002mrp.2 - 4 484 c.420C>T c.(418-420)AAC>AAT p.N140N RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Silent_p.N140N|RGL3_uc002mrq.2_3'UTR NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 140 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 CCCACCTCAGGTTCTTGTTGA 0.542 24 85 --- --- --- --- PASS SLC1A6 6511 broad.mit.edu 37 19 15061032 15061032 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:15061032C>T uc002naa.1 - 9 1678 c.1670G>A c.(1669-1671)CGG>CAG p.R557Q SLC1A6_uc010dzu.1_Missense_Mutation_p.R479Q|SLC1A6_uc010xod.1_Missense_Mutation_p.R493Q NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 557 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) GTTGCCTCCCCGTCCCCGGGA 0.652 21 20 --- --- --- --- PASS MRPL34 64981 broad.mit.edu 37 19 17417103 17417103 + Missense_Mutation SNP G C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:17417103G>C uc002ngc.1 + 2 419 c.194G>C c.(193-195)GGC>GCC p.G65A ABHD8_uc002ngb.3_5'Flank NM_023937 NP_076426 Q9BQ48 RM34_HUMAN mitochondrial ribosomal protein L34 precursor 65 translation structural constituent of ribosome 0 AACAAGCACGGCTGGGTCCGG 0.667 2 2 --- --- --- --- PASS C19orf50 79036 broad.mit.edu 37 19 18672950 18672950 + Missense_Mutation SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:18672950C>G uc002njo.2 + 2 226 c.84C>G c.(82-84)ATC>ATG p.I28M C19orf50_uc002njp.2_RNA|C19orf50_uc002njq.2_Missense_Mutation_p.I28M NM_024069 NP_076974 Q9BQD3 CS050_HUMAN hypothetical protein LOC79036 28 protein binding 0 ACGCCATCATCCTGGCCCAGA 0.617 4 19 --- --- --- --- PASS KLHL26 55295 broad.mit.edu 37 19 18778681 18778681 + Silent SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:18778681G>A uc002njz.1 + 3 501 c.474G>A c.(472-474)GCG>GCA p.A158A NM_018316 NP_060786 Q53HC5 KLH26_HUMAN kelch-like 26 158 ovary(1) 1 TCCTGAAGGCGGCCATGAGCG 0.647 7 36 --- --- --- --- PASS NCAN 1463 broad.mit.edu 37 19 19345811 19345811 + Nonsense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:19345811C>A uc002nlz.2 + 10 3255 c.3156C>A c.(3154-3156)TGC>TGA p.C1052* NCAN_uc010ecc.1_Nonsense_Mutation_p.C616* NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 1052 EGF-like 2; calcium-binding (Potential). axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) ACTGCCTCTGCAGCCCCTGTG 0.537 8 74 --- --- --- --- PASS MLL4 9757 broad.mit.edu 37 19 36212435 36212435 + Missense_Mutation SNP A G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:36212435A>G uc010eei.2 + 3 2186 c.2186A>G c.(2185-2187)AAC>AGC p.N729S NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 729 Pro-rich. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCTCTGAGCAACGGGCCACAG 0.662 10 37 --- --- --- --- PASS ZNF260 339324 broad.mit.edu 37 19 37005980 37005980 + Missense_Mutation SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:37005980G>A uc002oee.1 - 4 1005 c.161C>T c.(160-162)TCT>TTT p.S54F ZNF260_uc002oed.1_Missense_Mutation_p.S51F|ZNF260_uc010eey.1_Missense_Mutation_p.S51F|ZNF260_uc002oef.1_Missense_Mutation_p.S51F NM_001012756 NP_001012774 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 54 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) GCATTCATGAGATTTCTCTCC 0.363 28 61 --- --- --- --- PASS NUMBL 9253 broad.mit.edu 37 19 41186909 41186909 + Silent SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:41186909G>A uc002oon.2 - 6 621 c.453C>T c.(451-453)CGC>CGT p.R151R NUMBL_uc010xvq.1_Silent_p.R110R|NUMBL_uc002ooo.2_Silent_p.R151R|NUMBL_uc010xvr.1_Silent_p.R110R NM_004756 NP_004747 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 151 PID. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding lung(3)|ovary(1)|breast(1) 5 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) TGTCCAGGTTGCGGTCAGGAG 0.547 42 93 --- --- --- --- PASS ZNF229 7772 broad.mit.edu 37 19 44934577 44934577 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:44934577G>T uc002oze.1 - 6 813 c.379C>A c.(379-381)CAA>AAA p.Q127K ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.Q121K NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 127 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) TCTTTTCCTTGCAGATTTACT 0.468 18 66 --- --- --- --- PASS VASP 7408 broad.mit.edu 37 19 46021024 46021024 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:46021024C>A uc002pcg.2 + 2 451 c.109C>A c.(109-111)CAG>AAG p.Q37K VASP_uc010eki.2_Silent_p.S20S|VASP_uc002pci.2_Missense_Mutation_p.Q24K NM_003370 NP_003361 P50552 VASP_HUMAN vasodilator-stimulated phosphoprotein 37 WH1. axon guidance|cell junction assembly|T cell receptor signaling pathway actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane actin binding|profilin binding|SH3 domain binding 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) CAGCCGCGTCCAGATCTACCA 0.642 27 63 --- --- --- --- PASS VASP 7408 broad.mit.edu 37 19 46021195 46021195 + Silent SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:46021195C>T uc002pcg.2 + 3 528 c.186C>T c.(184-186)ATC>ATT p.I62I VASP_uc010eki.2_Missense_Mutation_p.S46L|VASP_uc002pci.2_Silent_p.I49I NM_003370 NP_003361 P50552 VASP_HUMAN vasodilator-stimulated phosphoprotein 62 WH1. axon guidance|cell junction assembly|T cell receptor signaling pathway actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane actin binding|profilin binding|SH3 domain binding 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) AGGTGGTCATCAACTGTGCCA 0.468 9 21 --- --- --- --- PASS LILRB1 10859 broad.mit.edu 37 19 55144519 55144519 + Silent SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:55144519C>A uc002qgj.2 + 8 1351 c.1011C>A c.(1009-1011)GCC>GCA p.A337A LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.A337A|LILRB1_uc002qgk.2_Silent_p.A337A|LILRB1_uc002qgm.2_Silent_p.A337A|LILRB1_uc010erq.2_Silent_p.A337A|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 337 Ig-like C2-type 4.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) CCACGGTGGCCTCAGGAGAGA 0.597 HNSCC(37;0.09) 22 24 --- --- --- --- PASS NLRP7 199713 broad.mit.edu 37 19 55441986 55441986 + Missense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:55441986C>A uc002qih.3 - 9 2767 c.2691G>T c.(2689-2691)GAG>GAT p.E897D NLRP7_uc002qig.3_Missense_Mutation_p.E869D|NLRP7_uc002qii.3_Missense_Mutation_p.E897D|NLRP7_uc010esk.2_Missense_Mutation_p.E897D|NLRP7_uc010esl.2_Missense_Mutation_p.E925D NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 897 LRR 7. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CTTGGAGCGCCTCTGAGAGAT 0.478 18 51 --- --- --- --- PASS PLCB4 5332 broad.mit.edu 37 20 9371211 9371211 + Nonsense_Mutation SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr20:9371211C>A uc002wnf.2 + 16 1408 c.1272C>A c.(1270-1272)TGC>TGA p.C424* PLCB4_uc010gbw.1_Nonsense_Mutation_p.C424*|PLCB4_uc010gbx.2_Nonsense_Mutation_p.C424*|PLCB4_uc002wne.2_Nonsense_Mutation_p.C424*|PLCB4_uc002wnh.2_Nonsense_Mutation_p.C271* NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 424 PI-PLC X-box. 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 CCAAATATTGCGAAGATCTAT 0.353 12 22 --- --- --- --- PASS C20orf71 128861 broad.mit.edu 37 20 31814784 31814784 + Silent SNP T C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr20:31814784T>C uc002wyr.2 + 6 878 c.670T>C c.(670-672)TTG>CTG p.L224L C20orf71_uc002wys.2_Silent_p.L188L NM_178466 NP_848561 Q9BQP9 SPLC3_HUMAN short long palate, lung and nasal epithelium 224 extracellular region lipid binding ovary(1)|skin(1) 2 TGTGAAACTGTTGAAAAGCCT 0.552 21 75 --- --- --- --- PASS FAM83C 128876 broad.mit.edu 37 20 33875512 33875512 + Missense_Mutation SNP A T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr20:33875512A>T uc010zux.1 - 4 1188 c.1070T>A c.(1069-1071)ATG>AAG p.M357K EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 357 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) GGAGCGACCCATAAGCGGTGA 0.652 14 25 --- --- --- --- PASS RALGAPB 57148 broad.mit.edu 37 20 37179733 37179733 + Missense_Mutation SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr20:37179733G>A uc002xiw.2 + 21 3286 c.3029G>A c.(3028-3030)CGC>CAC p.R1010H RALGAPB_uc002xix.2_Missense_Mutation_p.R1006H|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.R788H NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 1010 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 CCTGAACCTCGCCCAGTTCCT 0.393 27 128 --- --- --- --- PASS SLC32A1 140679 broad.mit.edu 37 20 37353631 37353631 + Silent SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr20:37353631C>A uc002xjc.2 + 1 527 c.264C>A c.(262-264)GGC>GGA p.G88G NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 88 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) ATCAGCGAGGCAGCGGAGCTC 0.672 24 37 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40713432 40713432 + Silent SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr20:40713432G>T uc002xkg.2 - 29 4210 c.4026C>A c.(4024-4026)GCC>GCA p.A1342A PTPRT_uc010ggj.2_Silent_p.A1361A|PTPRT_uc010ggi.2_Silent_p.A545A NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1342 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGTCCCGGTAGGCAGGCCAGC 0.597 5 23 --- --- --- --- PASS ZFP64 55734 broad.mit.edu 37 20 50769544 50769544 + Missense_Mutation SNP T A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr20:50769544T>A uc002xwl.2 - 6 1536 c.1187A>T c.(1186-1188)GAC>GTC p.D396V ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.D394V|ZFP64_uc002xwn.2_Missense_Mutation_p.D342V NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CTTAACCATGTCCCCATGGAA 0.552 21 66 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10921941 10921941 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr21:10921941G>T uc002yip.1 - 18 1450 c.1082C>A c.(1081-1083)ACT>AAT p.T361N TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.T343N|TPTE_uc002yir.1_Missense_Mutation_p.T323N|TPTE_uc010gkv.1_Missense_Mutation_p.T223N NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 361 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TACCTTTGCAGTTGAACATAT 0.338 7 79 --- --- --- --- PASS ADAMTS5 11096 broad.mit.edu 37 21 28296372 28296372 + Silent SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr21:28296372C>T uc002ymg.2 - 8 3522 c.2793G>A c.(2791-2793)TAG>TAA p.*931* NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 931 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 TAACCACAGGCTAACATTTCT 0.468 6 10 --- --- --- --- PASS HSCB 150274 broad.mit.edu 37 22 29139937 29139937 + Missense_Mutation SNP C G G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr22:29139937C>G uc003aea.2 + 2 345 c.304C>G c.(304-306)CAC>GAC p.H102D CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adw.1_5'Flank|CHEK2_uc003adx.1_5'Flank|CHEK2_uc003ady.1_5'Flank|CHEK2_uc003adz.1_5'Flank NM_172002 NP_741999 Q8IWL3 HSC20_HUMAN J-type co-chaperone HSC20 precursor 102 J. HPD->AAA: Does not interact with HSPA9. Does not inhibit interaction with ISCU. iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1) 1 GCGTCTTGTCCACCCAGATTT 0.478 19 63 --- --- --- --- PASS SMTN 6525 broad.mit.edu 37 22 31484072 31484072 + Missense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr22:31484072G>T uc003ajl.1 + 3 391 c.173G>T c.(172-174)CGG>CTG p.R58L SMTN_uc003ajk.1_Missense_Mutation_p.R58L|SMTN_uc003ajm.1_Missense_Mutation_p.R58L|SMTN_uc011ale.1_Missense_Mutation_p.R112L|SMTN_uc011alf.1_Missense_Mutation_p.R114L|SMTN_uc003ajn.1_Missense_Mutation_p.R50L|SMTN_uc011alg.1_5'Flank NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 58 Potential. muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 CGTGCCGAGCGGCAGGACAAC 0.657 3 5 --- --- --- --- PASS LARGE 9215 broad.mit.edu 37 22 34157438 34157438 + Missense_Mutation SNP C T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr22:34157438C>T uc003and.3 - 3 605 c.26G>A c.(25-27)CGG>CAG p.R9Q LARGE_uc003ane.3_Missense_Mutation_p.R9Q|LARGE_uc010gwp.2_Missense_Mutation_p.R9Q|LARGE_uc011ame.1_Intron|LARGE_uc011amf.1_Missense_Mutation_p.R9Q NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 9 Cytoplasmic (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) CAAGAATTTCCGTCTCCCCCT 0.532 9 73 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37027907 37027907 + Missense_Mutation SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chrX:37027907G>A uc004ddl.1 + 1 1438 c.1424G>A c.(1423-1425)TGC>TAC p.C475Y NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 475 ovary(3) 3 TCCCATCTCTGCCCGGAGCCT 0.627 31 32 --- --- --- --- PASS TSPAN7 7102 broad.mit.edu 37 X 38546888 38546888 + Silent SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chrX:38546888G>T uc004deg.3 + 7 786 c.717G>T c.(715-717)CGG>CGT p.R239R TSPAN7_uc011mkj.1_Silent_p.R265R|TSPAN7_uc011mkk.1_Silent_p.R256R|TSPAN7_uc004deh.2_Silent_p.R147R NM_004615 NP_004606 P41732 TSN7_HUMAN tetraspanin 7 239 Cytoplasmic (Potential). interspecies interaction between organisms integral to plasma membrane ovary(1) 1 GTCTGTCCCGGTTCATCACGG 0.473 13 7 --- --- --- --- PASS KDM6A 7403 broad.mit.edu 37 X 44941830 44941830 + Nonsense_Mutation SNP G T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chrX:44941830G>T uc004dge.3 + 21 3529 c.3154G>T c.(3154-3156)GAA>TAA p.E1052* KDM6A_uc011mkz.1_Nonsense_Mutation_p.E1104*|KDM6A_uc011mla.1_Nonsense_Mutation_p.E1007*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.E1059*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.E756*|KDM6A_uc011mld.1_Nonsense_Mutation_p.E691* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1052 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 GGAAGAAAATGAAAAAAGAAG 0.313 D|N|F|S renal|oesophageal SCC|MM 20 10 --- --- --- --- PASS PSMD10 5716 broad.mit.edu 37 X 107334727 107334727 + Silent SNP T A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chrX:107334727T>A uc004enp.1 - 1 122 c.24A>T c.(22-24)CTA>CTT p.L8L ATG4A_uc004enr.2_5'Flank|ATG4A_uc004ent.2_5'Flank|ATG4A_uc004ens.2_5'Flank|ATG4A_uc011msl.1_5'Flank|ATG4A_uc010npi.2_5'Flank|PSMD10_uc004enq.1_Silent_p.L8L|PSMD10_uc010nph.1_Silent_p.L8L NM_002814 NP_002805 O75832 PSD10_HUMAN proteasome 26S non-ATPase subunit 10 isoform 1 8 ANK 1.|Interaction with RB1.|Required for nuclear localization. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle transcription factor binding ovary(1) 1 TGCAGACCATTAGGTTAGACA 0.562 45 25 --- --- --- --- PASS DCAF12L1 139170 broad.mit.edu 37 X 125686112 125686112 + Silent SNP G A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chrX:125686112G>A uc004eul.2 - 1 731 c.480C>T c.(478-480)TCC>TCT p.S160S NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 160 WD 1. skin(3)|ovary(1) 4 GAAGCGTCTTGGAGGGATTCA 0.667 10 13 --- --- --- --- PASS BRS3 680 broad.mit.edu 37 X 135570420 135570420 + Silent SNP C A A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chrX:135570420C>A uc004ezv.1 + 1 296 c.147C>A c.(145-147)GCC>GCA p.A49A NM_001727 NP_001718 P32247 BRS3_HUMAN bombesin-like receptor 3 49 Helical; Name=1; (Potential). adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) CATTGTGTGCCATCTATATTA 0.398 34 25 --- --- --- --- PASS MCF2 4168 broad.mit.edu 37 X 138692464 138692464 + Nonsense_Mutation SNP A T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chrX:138692464A>T uc004fau.2 - 11 1691 c.1397T>A c.(1396-1398)TTA>TAA p.L466* MCF2_uc004fav.2_Nonsense_Mutation_p.L482*|MCF2_uc011mwl.1_Nonsense_Mutation_p.L443*|MCF2_uc010nsh.1_Nonsense_Mutation_p.L466*|MCF2_uc011mwm.1_Nonsense_Mutation_p.L427*|MCF2_uc011mwn.1_Nonsense_Mutation_p.L611*|MCF2_uc004faw.2_Nonsense_Mutation_p.L526*|MCF2_uc011mwo.1_Nonsense_Mutation_p.L542* NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 466 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) ATTTACTTTTAAGTTGCTCTG 0.299 3 5 --- --- --- --- PASS MAGEA8 4107 broad.mit.edu 37 X 149013145 149013145 + Silent SNP T C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chrX:149013145T>C uc004fdw.1 + 3 314 c.99T>C c.(97-99)GCT>GCC p.A33A NM_005364 NP_005355 P43361 MAGA8_HUMAN melanoma antigen family A, 8 33 0 Acute lymphoblastic leukemia(192;6.56e-05) TTCCCACAGCTGAGGAGCAGA 0.567 4 12 --- --- --- --- PASS NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG - - TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:120612003_120612004delGG uc001eik.2 - 1 273_274 c.17_18delCC c.(16-18)CCCfs p.P6fs NOTCH2_uc001eil.2_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.3_5'UTR NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.663 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 10 5 --- --- --- --- OR10K1 391109 broad.mit.edu 37 1 158435542 158435542 + Frame_Shift_Del DEL C - - TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr1:158435542delC uc010pij.1 + 1 191 c.191delC c.(190-192)GCCfs p.A64fs NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TTCTTCCTTGCCATCCTTTCT 0.478 106 93 --- --- --- --- REG1P 5969 broad.mit.edu 37 2 79362646 79362647 + RNA INS - T T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr2:79362646_79362647insT uc002soa.1 - 4 c.1667_1668insA REG1P_uc002sob.1_RNA|REG1P_uc002soc.1_RNA Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds. 0 AAACATGTTTATTTTTATTGTT 0.426 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 3 195963973 195963974 + RNA INS - AG AG rs147293878 by1000genomes TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr3:195963973_195963974insAG uc003fwf.1 - 1 c.812_813insCT Homo sapiens full length insert cDNA clone ZD56D02. ACAGTCCTAGCAGAGGCAAGGA 0.480 0 8 --- --- --- --- CASP4 837 broad.mit.edu 37 11 104822634 104822635 + Frame_Shift_Del DEL TT - - TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr11:104822634_104822635delTT uc001pid.1 - 3 433_434 c.360_361delAA c.(358-363)GAAAGAfs p.E120fs CASP4_uc001pib.1_Frame_Shift_Del_p.E64fs|CASP4_uc009yxg.1_Frame_Shift_Del_p.E29fs|CASP4_uc010rux.1_Frame_Shift_Del_p.E120fs|CASP4_uc010ruy.1_Frame_Shift_Del_p.E120fs NM_001225 NP_001216 P49662 CASP4_HUMAN caspase 4 isoform alpha precursor 120_121 apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding lung(2)|ovary(1)|skin(1) 4 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) TCTTCAGCTCTTTCTTTACATA 0.406 24 12 --- --- --- --- ZNF268 10795 broad.mit.edu 37 12 133780828 133780829 + Frame_Shift_Ins INS - C C TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr12:133780828_133780829insC uc010tcf.1 + 6 2886_2887 c.2556_2557insC c.(2554-2559)CTTGTAfs p.L852fs ZNF268_uc010tbv.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tbw.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tbx.1_Frame_Shift_Ins_p.L712fs|ZNF268_uc010tby.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tbz.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tca.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tcb.1_Frame_Shift_Ins_p.L712fs|ZNF268_uc010tcc.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tcd.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tce.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tcg.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tch.1_Frame_Shift_Ins_p.L852fs NM_003415 NP_003406 Q14587 ZN268_HUMAN zinc finger protein 268 isoform a 852_853 C2H2-type 21. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TACGCCTTCTTGTACACCAGAG 0.411 4 2 --- --- --- --- ULK2 9706 broad.mit.edu 37 17 19744820 19744820 + Frame_Shift_Del DEL T - - TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr17:19744820delT uc002gwm.3 - 9 1195 c.686delA c.(685-687)AACfs p.N229fs ULK2_uc002gwn.2_Frame_Shift_Del_p.N229fs NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 229 Protein kinase. signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) TAAGCTCCTGTTTTTTTCATA 0.308 16 10 --- --- --- --- FAM108A1 81926 broad.mit.edu 37 19 1881526 1881528 + In_Frame_Del DEL AGA - - TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr19:1881526_1881528delAGA uc002lug.2 - 2 444_446 c.38_40delTCT c.(37-42)TTCTGC>TGC p.F13del FAM108A1_uc002lud.2_In_Frame_Del_p.F13del|FAM108A1_uc002lue.2_In_Frame_Del_p.F13del|FAM108A1_uc002luf.2_In_Frame_Del_p.F13del NM_001130111 NP_001123583 Q96GS6 F18A1_HUMAN hypothetical protein LOC81926 isoform 2 13 extracellular region hydrolase activity 0 Ovarian(11;0.000137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGGGCAGCAGAAGAGGCAGCA 0.567 6 3 --- --- --- --- TSSK2 23617 broad.mit.edu 37 22 19119776 19119776 + Frame_Shift_Del DEL G - - rs139504972 TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chr22:19119776delG uc002zow.2 + 1 1456 c.864delG c.(862-864)GAGfs p.E288fs DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA NM_053006 NP_443732 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 288 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1) 1 Colorectal(54;0.0993) TCAAGAGGGAGGGGGAGGGCA 0.637 42 21 --- --- --- --- SSX8 280659 broad.mit.edu 37 X 52662823 52662824 + RNA DEL AC - - TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 07047a99-45bd-4df6-ad6f-934a48e8e213 09de7b21-79a1-4b8c-a835-7f7a4481f4d5 g.chrX:52662823_52662824delAC uc011mob.1 + 8 c.1272_1273delAC NR_027250 Homo sapiens cDNA FLJ56587 complete cds, highly similar to Protein SSX8. 0 acaccacacaacacacacacac 0.391 4 2 --- --- --- ---