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 CHD5 26038 broad.mit.edu 37 1 6202587 6202587 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:6202587G>A uc001amb.1 - 14 2222 c.2122C>T c.(2122-2124)CTC>TTC p.L708F CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 708 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) AGCCAGTTGAGGCCCTCCAGC 0.617 28 69 --- --- --- --- PASS PRAMEF2 65122 broad.mit.edu 37 1 12919947 12919947 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:12919947G>A uc001aum.1 + 3 774 c.687G>A c.(685-687)AAG>AAA p.K229K NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 229 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTTACCTGAAGGAGATGAAGA 0.403 29 231 --- --- --- --- PASS PADI1 29943 broad.mit.edu 37 1 17567205 17567205 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:17567205C>A uc001bah.1 + 15 1800 c.1708C>A c.(1708-1710)CAG>AAG p.Q570K PADI1_uc010oco.1_Missense_Mutation_p.Q127K|PADI1_uc010ocp.1_Intron|PADI1_uc010ocq.1_Missense_Mutation_p.Q41K|PADI1_uc009vpb.1_Intron NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN peptidylarginine deiminase type I 570 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity 0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GGACATTCCCCAGCTCTTCTT 0.587 24 130 --- --- --- --- PASS UBR4 23352 broad.mit.edu 37 1 19491395 19491395 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:19491395C>T uc001bbi.2 - 32 4413 c.4409G>A c.(4408-4410)CGC>CAC p.R1470H UBR4_uc001bbm.1_Missense_Mutation_p.R681H NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1470 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGTAGTCATGCGGGTGAGCCA 0.557 4 128 --- --- --- --- PASS PINK1 65018 broad.mit.edu 37 1 20976998 20976998 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:20976998G>A uc001bdm.2 + 8 1654 c.1560G>A c.(1558-1560)AAG>AAA p.K520K PINK1_uc001bdn.2_Silent_p.K213K NM_032409 NP_115785 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 precursor 520 Cytoplasmic (Potential). cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding ovary(2)|central_nervous_system(1) 3 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TAGCCCTGAAGAATCTGAAGT 0.498 27 33 --- --- --- --- PASS ZNF436 80818 broad.mit.edu 37 1 23693646 23693646 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:23693646C>G uc001bgt.2 - 2 430 c.49G>C c.(49-51)GAA>CAA p.E17Q ZNF436_uc001bgu.2_Missense_Mutation_p.E17Q|C1orf213_uc001bgv.2_5'Flank|C1orf213_uc001bgw.2_5'Flank NM_030634 NP_085137 Q9C0F3 ZN436_HUMAN zinc finger protein 436 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) GCCATATCTTCAAACGTCACA 0.423 19 117 --- --- --- --- PASS MDS2 259283 broad.mit.edu 37 1 23953516 23953516 + RNA SNP T G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:23953516T>G uc001bhi.3 + 3 c.806T>G MDS2_uc001bhj.3_RNA Homo sapiens MDS2 gene. ovary(2) 2 TACACACATTTAAACACGCGT 0.209 T ETV6 MDS 2 2 --- --- --- --- PASS NIPAL3 57185 broad.mit.edu 37 1 24766703 24766703 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:24766703C>T uc001bjh.2 + 3 542 c.135C>T c.(133-135)CTC>CTT p.L45L NIPAL3_uc010oek.1_Silent_p.L45L|NIPAL3_uc001bjg.2_Silent_p.L45L|NIPAL3_uc009vrc.2_5'UTR NM_020448 NP_065181 Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 45 Helical; (Potential). integral to membrane 0 TCGGGCACCTCGTGGTCAGCA 0.542 22 49 --- --- --- --- PASS FAM76A 199870 broad.mit.edu 37 1 28081796 28081796 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:28081796G>C uc001boq.2 + 7 792 c.690G>C c.(688-690)AAG>AAC p.K230N FAM76A_uc009vtb.2_Missense_Mutation_p.K230N|FAM76A_uc001bor.2_Missense_Mutation_p.K264N|FAM76A_uc001bos.2_Missense_Mutation_p.K235N|FAM76A_uc001bot.2_Missense_Mutation_p.K201N|FAM76A_uc010ofm.1_Missense_Mutation_p.K150N NM_152660 NP_689873 Q8TAV0 FA76A_HUMAN hypothetical protein LOC199870 isoform 3 230 Potential. 0 Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649) CCCTGAAGAAGATGTTGCATC 0.438 27 79 --- --- --- --- PASS COL16A1 1307 broad.mit.edu 37 1 32165448 32165448 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:32165448G>A uc001btk.1 - 4 597 c.232C>T c.(232-234)CGC>TGC p.R78C COL16A1_uc001btj.1_5'Flank|COL16A1_uc001btl.3_Missense_Mutation_p.R78C NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 78 TSP N-terminal. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GCCCCCAGGCGCAGGATGAGA 0.592 15 89 --- --- --- --- PASS KIAA0754 643314 broad.mit.edu 37 1 39878590 39878590 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:39878590G>A uc009vvt.1 + 1 3415 c.2653G>A c.(2653-2655)GTT>ATT p.V885I MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 749 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGACATCCTAGTTGCTTCAAT 0.547 4 9 --- --- --- --- PASS ZMPSTE24 10269 broad.mit.edu 37 1 40723960 40723960 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:40723960C>G uc001cfg.2 + 1 228 c.17C>G c.(16-18)TCG>TGG p.S6W uc001cff.2_5'Flank NM_005857 NP_005848 O75844 FACE1_HUMAN zinc metallopeptidase STE24 6 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity 0 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) ATGTGGGCATCGCTGGACGCT 0.632 28 75 --- --- --- --- PASS LEPRE1 64175 broad.mit.edu 37 1 43228017 43228017 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:43228017C>G uc001chv.2 - 2 708 c.595G>C c.(595-597)GAT>CAT p.D199H LEPRE1_uc001chw.2_Missense_Mutation_p.D199H|LEPRE1_uc001chx.3_Missense_Mutation_p.D199H|LEPRE1_uc001chy.3_Missense_Mutation_p.D199H NM_022356 NP_071751 Q32P28 P3H1_HUMAN leprecan 1 isoform 1 199 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity ovary(3)|lung(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GTCTCAAGATCCTTGAAGTCG 0.338 39 213 --- --- --- --- PASS PTCH2 8643 broad.mit.edu 37 1 45292238 45292238 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:45292238C>A uc010olf.1 - 18 2910 c.2898G>T c.(2896-2898)CTG>CTT p.L966L PTCH2_uc010olg.1_Silent_p.L664L NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 966 Helical; (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) TGCAGACGGCCAGCAGGAAGC 0.657 Basal_Cell_Nevus_syndrome 5 32 --- --- --- --- PASS ZCCHC11 23318 broad.mit.edu 37 1 52962837 52962837 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:52962837C>T uc001ctx.2 - 5 1252 c.1018G>A c.(1018-1020)GAG>AAG p.E340K ZCCHC11_uc001cty.2_Missense_Mutation_p.E340K|ZCCHC11_uc001ctz.2_Missense_Mutation_p.E340K|ZCCHC11_uc009vze.1_Missense_Mutation_p.E340K|ZCCHC11_uc009vzf.1_Missense_Mutation_p.E99K|ZCCHC11_uc001cub.2_Missense_Mutation_p.E340K|ZCCHC11_uc001cuc.2_Intron NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 340 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 GAACGAAGCTCACTTTCTTCT 0.279 9 23 --- --- --- --- PASS USP24 23358 broad.mit.edu 37 1 55544314 55544314 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:55544314G>C uc001cyg.3 - 58 6731 c.6731C>G c.(6730-6732)GCT>GGT p.A2244G NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 2404 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 CTCCCGCAAAGCAAACATTAC 0.438 4 22 --- --- --- --- PASS CYP2J2 1573 broad.mit.edu 37 1 60373569 60373569 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:60373569C>T uc001czq.2 - 6 897 c.892G>A c.(892-894)GAA>AAA p.E298K NM_000775 NP_000766 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, 298 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity ovary(1) 1 all_cancers(7;0.000396) AGGTTTTCTTCATGGAAACTT 0.453 28 75 --- --- --- --- PASS CACHD1 57685 broad.mit.edu 37 1 65120429 65120429 + Silent SNP A C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:65120429A>C uc001dbo.1 + 12 1677 c.1572A>C c.(1570-1572)ATA>ATC p.I524I CACHD1_uc001dbp.1_Silent_p.I279I|CACHD1_uc001dbq.1_Silent_p.I279I NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 575 Extracellular (Potential). calcium ion transport integral to membrane ovary(2) 2 CTTGGCACATAAACAAGCTGA 0.458 35 148 --- --- --- --- PASS RAVER2 55225 broad.mit.edu 37 1 65270690 65270690 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:65270690G>C uc001dbs.1 + 8 1352 c.1274G>C c.(1273-1275)GGA>GCA p.G425A RAVER2_uc001dbt.1_Missense_Mutation_p.G317A|RAVER2_uc010opb.1_Intron NM_018211 NP_060681 Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 438 cytoplasm|nucleus nucleotide binding|RNA binding large_intestine(1) 1 GGCTTACTTGGAGAGCCCCCA 0.418 58 88 --- --- --- --- PASS IFI44L 10964 broad.mit.edu 37 1 79107177 79107177 + Missense_Mutation SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:79107177A>T uc010oro.1 + 8 1386 c.1207A>T c.(1207-1209)AAC>TAC p.N403Y IFI44L_uc010orp.1_Missense_Mutation_p.N140Y|IFI44L_uc010orq.1_Missense_Mutation_p.N140Y NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 403 cytoplasm 0 GATGGTTGGAAATTATGCTTC 0.373 29 76 --- --- --- --- PASS ZNF644 84146 broad.mit.edu 37 1 91405187 91405187 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:91405187G>C uc001dnw.2 - 3 1866 c.1724C>G c.(1723-1725)TCT>TGT p.S575C ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.S575C NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 575 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TCCTACTACAGAGTCTTTCAT 0.398 33 93 --- --- --- --- PASS LPPR4 9890 broad.mit.edu 37 1 99771996 99771996 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:99771996C>A uc001dse.2 + 7 1828 c.1722C>A c.(1720-1722)CCC>CCA p.P574P LPPR4_uc010oue.1_Silent_p.P516P NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 574 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) ACAGCCAGCCCCGAATCATGC 0.547 25 54 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103463882 103463882 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:103463882C>G uc001dul.2 - 25 2498 c.2180G>C c.(2179-2181)GGT>GCT p.G727A COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G739A|COL11A1_uc001dun.2_Missense_Mutation_p.G688A|COL11A1_uc009weh.2_Missense_Mutation_p.G611A NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 727 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCCATCAGCACCAGGAAGTCC 0.294 15 24 --- --- --- --- PASS NTNG1 22854 broad.mit.edu 37 1 107937858 107937858 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:107937858C>G uc001dvh.3 + 4 1688 c.970C>G c.(970-972)CCA>GCA p.P324A NTNG1_uc001dvf.3_Missense_Mutation_p.P324A|NTNG1_uc010out.1_Missense_Mutation_p.P324A|NTNG1_uc001dvc.3_Missense_Mutation_p.P324A|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_5'UTR|NTNG1_uc001dvd.1_Missense_Mutation_p.P324A NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 324 Laminin EGF-like 1. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CACTACAGGTCCAGACTGTGG 0.493 65 101 --- --- --- --- PASS AMPD1 270 broad.mit.edu 37 1 115218197 115218197 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:115218197C>G uc001efe.1 - 12 1717 c.1633G>C c.(1633-1635)GCC>CCC p.A545P AMPD1_uc001eff.1_Missense_Mutation_p.A541P NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 545 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) ATGTAGTAGGCATAGTAAGTG 0.473 5 175 --- --- --- --- PASS CD101 9398 broad.mit.edu 37 1 117561160 117561160 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:117561160G>A uc010oxb.1 + 6 2053 c.1995G>A c.(1993-1995)CTG>CTA p.L665L CD101_uc009whd.2_Silent_p.L665L|CD101_uc010oxc.1_Silent_p.L665L|CD101_uc010oxd.1_Silent_p.L603L NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 665 Ig-like C2-type 6.|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 CTCACCCACTGAGGATAGCCG 0.423 29 57 --- --- --- --- PASS MAN1A2 10905 broad.mit.edu 37 1 117944986 117944986 + Missense_Mutation SNP A G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:117944986A>G uc001ehd.1 + 2 1202 c.481A>G c.(481-483)ATT>GTT p.I161V MAN1A2_uc009whg.1_Intron NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 161 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) ACCAGTCCCTATTCCCAACCT 0.383 21 34 --- --- --- --- PASS PLEKHO1 51177 broad.mit.edu 37 1 150131509 150131509 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:150131509C>T uc001ett.2 + 6 1299 c.1021C>T c.(1021-1023)CGG>TGG p.R341W PLEKHO1_uc001etr.2_Missense_Mutation_p.R169W|PLEKHO1_uc001ets.2_Missense_Mutation_p.R158W|PLEKHO1_uc001etu.2_Missense_Mutation_p.R169W NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O 341 Negative regulator of AP-1 activity. cytoplasm|nucleus|plasma membrane lung(1) 1 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GGACCCCCCTCGGTCTCCGCC 0.602 26 62 --- --- --- --- PASS APH1A 51107 broad.mit.edu 37 1 150239862 150239862 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:150239862G>A uc001ety.1 - 4 697 c.375C>T c.(373-375)TTC>TTT p.F125F APH1A_uc010pbx.1_Silent_p.F55F|APH1A_uc001etz.1_Silent_p.F125F|APH1A_uc001eua.1_Silent_p.F125F|APH1A_uc010pby.1_Silent_p.F68F|APH1A_uc001eub.1_Silent_p.F9F|APH1A_uc010pbz.1_Silent_p.F9F NM_001077628 NP_001071096 Q96BI3 APH1A_HUMAN anterior pharynx defective 1 homolog A isoform 125 Helical; Name=4; (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane protein binding ovary(1)|lung(1) 2 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TGATGATACCGAAGGAGAGAC 0.493 19 62 --- --- --- --- PASS TCHH 7062 broad.mit.edu 37 1 152081138 152081138 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:152081138C>G uc001ezp.2 - 2 4555 c.4555G>C c.(4555-4557)GAG>CAG p.E1519Q TCHH_uc009wne.1_Missense_Mutation_p.E1519Q NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1519 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTTCCTCCTCGAGGAATTTT 0.587 39 99 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152282605 152282605 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:152282605G>T uc001ezu.1 - 3 4793 c.4757C>A c.(4756-4758)ACA>AAA p.T1586K NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1586 Ser-rich.|Filaggrin 9. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCGCCTGCTTGTCTTGGACCC 0.592 Ichthyosis 90 214 --- --- --- --- PASS IVL 3713 broad.mit.edu 37 1 152882380 152882380 + Missense_Mutation SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:152882380A>T uc001fau.2 + 2 153 c.107A>T c.(106-108)CAG>CTG p.Q36L NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 36 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAAATGAAACAGCCAACTCCA 0.557 33 72 --- --- --- --- PASS S100A7 6278 broad.mit.edu 37 1 153431478 153431478 + Silent SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:153431478A>T uc001fbv.1 - 2 83 c.12T>A c.(10-12)ACT>ACA p.T4T NM_002963 NP_002954 P31151 S10A7_HUMAN S100 calcium binding protein A7 4 angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding skin(1) 1 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TCTCAGCTTGAGTGTTGCTCA 0.418 46 129 --- --- --- --- PASS NUP210L 91181 broad.mit.edu 37 1 153994764 153994764 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:153994764C>G uc001fdw.2 - 32 4426 c.4354G>C c.(4354-4356)GCT>CCT p.A1452P NUP210L_uc009woq.2_Missense_Mutation_p.A361P|NUP210L_uc010peh.1_Missense_Mutation_p.A1452P NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1452 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CTGTTCACAGCCTGGGCCATG 0.453 24 106 --- --- --- --- PASS DCST2 127579 broad.mit.edu 37 1 155003036 155003036 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:155003036G>A uc001fgm.2 - 6 971 c.891C>T c.(889-891)GCC>GCT p.A297A DCST2_uc009wpb.2_RNA NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 297 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGCTCCGAGAGGCATTGAGAT 0.602 10 49 --- --- --- --- PASS DCST2 127579 broad.mit.edu 37 1 155003037 155003037 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:155003037G>A uc001fgm.2 - 6 970 c.890C>T c.(889-891)GCC>GTC p.A297V DCST2_uc009wpb.2_RNA NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 297 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCTCCGAGAGGCATTGAGATC 0.597 10 49 --- --- --- --- PASS ASH1L 55870 broad.mit.edu 37 1 155385650 155385650 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:155385650C>G uc009wqq.2 - 6 6373 c.5893G>C c.(5893-5895)GAA>CAA p.E1965Q ASH1L_uc001fkt.2_Missense_Mutation_p.E1965Q NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1965 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AAGGTACTTTCAGGTTCAGAA 0.433 28 120 --- --- --- --- PASS YY1AP1 55249 broad.mit.edu 37 1 155657867 155657867 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:155657867C>T uc001fln.2 - 2 197 c.173G>A c.(172-174)CGA>CAA p.R58Q YY1AP1_uc010pgi.1_Missense_Mutation_p.R130Q|YY1AP1_uc001flh.2_Missense_Mutation_p.R130Q|YY1AP1_uc009wqt.2_5'UTR|YY1AP1_uc001flk.2_5'UTR|YY1AP1_uc001fll.2_Intron|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_5'UTR|YY1AP1_uc001fli.2_5'UTR|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_5'UTR|YY1AP1_uc009wqw.2_5'UTR|YY1AP1_uc001flo.2_Intron|YY1AP1_uc001flp.2_Intron|YY1AP1_uc010pgj.1_Missense_Mutation_p.R58Q|YY1AP1_uc009wqx.2_Missense_Mutation_p.R130Q|YY1AP1_uc010pgk.1_Missense_Mutation_p.R130Q|DAP3_uc001flq.2_5'Flank|DAP3_uc001flr.2_5'Flank|DAP3_uc001fls.2_5'Flank|DAP3_uc010pgl.1_5'Flank|DAP3_uc001flt.2_5'Flank|DAP3_uc001flu.2_5'Flank|DAP3_uc010pgm.1_5'Flank NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 58 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) CTCACCGTGTCGGAGGCCGAG 0.627 29 47 --- --- --- --- PASS RHBG 57127 broad.mit.edu 37 1 156347189 156347189 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:156347189C>T uc010pho.1 + 2 323 c.285C>T c.(283-285)CTC>CTT p.L95L RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Silent_p.L26L|RHBG_uc009wrz.2_Silent_p.L26L|RHBG_uc001for.2_Silent_p.L65L NM_020407 NP_065140 Q9H310 RHBG_HUMAN Rhesus blood group, B glycoprotein 95 Helical; (Potential). transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding ovary(2) 2 Hepatocellular(266;0.158) TCACCTTCCTCCTGGCCGCCT 0.622 46 84 --- --- --- --- PASS TTC24 164118 broad.mit.edu 37 1 156552193 156552193 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:156552193C>T uc009wsc.1 + 1 177 c.37C>T c.(37-39)CGG>TGG p.R13W NM_001105669 NP_001099139 A2A3L6 TTC24_HUMAN tetratricopeptide repeat domain 24 293 TPR 6. binding pancreas(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCAGGAAGCTCGGGAGTTTCA 0.622 18 17 --- --- --- --- PASS FCER1A 2205 broad.mit.edu 37 1 159273818 159273818 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:159273818C>T uc001ftq.2 + 4 276 c.177C>T c.(175-177)GTC>GTT p.V59V NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 59 Extracellular (Potential).|Ig-like 1. integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) TCTTTGAAGTCAGTTCCACCA 0.378 13 70 --- --- --- --- PASS ADCY10 55811 broad.mit.edu 37 1 167844384 167844384 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:167844384C>T uc001ger.2 - 13 1745 c.1447G>A c.(1447-1449)GAT>AAT p.D483N ADCY10_uc009wvk.2_Missense_Mutation_p.D391N|ADCY10_uc010plj.1_Missense_Mutation_p.D330N|ADCY10_uc009wvl.2_Missense_Mutation_p.D482N NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 483 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 AAAGGGTAATCCTCCTTTCTG 0.299 14 66 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169505854 169505854 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:169505854G>C uc001ggg.1 - 14 5006 c.4861C>G c.(4861-4863)CGA>GGA p.R1621G NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1621 F5/8 type A 3.|Plastocyanin-like 5. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) AGGTACTTTCGAAAAACTACT 0.368 12 72 --- --- --- --- PASS SELE 6401 broad.mit.edu 37 1 169699685 169699685 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:169699685G>T uc001ggm.3 - 5 760 c.603C>A c.(601-603)AGC>AGA p.S201R C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 201 Sushi 1.|Extracellular (Potential). actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) AAGAATTGTAGCTGAAGTTTC 0.493 31 57 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175293559 175293559 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:175293559G>T uc001gkp.1 - 20 3971 c.3890C>A c.(3889-3891)GCA>GAA p.A1297E TNR_uc009wwu.1_Missense_Mutation_p.A1297E NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1297 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) ATACCACCATGCTCCCTTGTA 0.532 26 77 --- --- --- --- PASS LAMC2 3918 broad.mit.edu 37 1 183192282 183192282 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:183192282G>T uc001gqa.2 + 7 1090 c.776G>T c.(775-777)GGG>GTG p.G259V LAMC2_uc001gpz.3_Missense_Mutation_p.G259V|LAMC2_uc010poa.1_Intron NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 259 Laminin IV type A. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 AAATTTCTTGGGAATCAACAG 0.463 17 43 --- --- --- --- PASS PTPRC 5788 broad.mit.edu 37 1 198687416 198687416 + Silent SNP A G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:198687416A>G uc001gur.1 + 14 1818 c.1638A>G c.(1636-1638)ACA>ACG p.T546T PTPRC_uc001gus.1_Silent_p.T498T|PTPRC_uc001gut.1_Silent_p.T385T|PTPRC_uc009wzf.1_Silent_p.T434T|PTPRC_uc010ppg.1_Silent_p.T482T NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 546 Extracellular (Potential).|Fibronectin type-III 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 AATATTCAACAGACTACACTT 0.323 10 17 --- --- --- --- PASS CACNA1S 779 broad.mit.edu 37 1 201027567 201027567 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:201027567C>T uc001gvv.2 - 28 3805 c.3578G>A c.(3577-3579)AGC>AAC p.S1193N NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1193 IV.|Helical; Name=S3 of repeat IV; (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ATCAATGATGCTGCCAATGAC 0.483 21 56 --- --- --- --- PASS PPP2R5A 5525 broad.mit.edu 37 1 212515550 212515550 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:212515550G>C uc001hjb.2 + 4 1075 c.501G>C c.(499-501)TTG>TTC p.L167F PPP2R5A_uc010ptd.1_Missense_Mutation_p.L108F NM_006243 NP_006234 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B 167 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) AATTCTTCTTGAGATTTTTGG 0.343 40 85 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215821941 215821941 + Silent SNP G A A rs139847770 byFrequency TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:215821941G>A uc001hku.1 - 66 14898 c.14511C>T c.(14509-14511)ATC>ATT p.I4837I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4837 Extracellular (Potential).|Fibronectin type-III 34. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCAGCGTCCCGATTTGTGGAG 0.572 HNSCC(13;0.011) 33 55 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215916599 215916599 + Missense_Mutation SNP A G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:215916599A>G uc001hku.1 - 59 11855 c.11468T>C c.(11467-11469)GTT>GCT p.V3823A NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3823 Fibronectin type-III 23.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATGATGACCAACGGAGAAGGC 0.428 HNSCC(13;0.011) 29 107 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216420520 216420520 + Missense_Mutation SNP A C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:216420520A>C uc001hku.1 - 13 2603 c.2216T>G c.(2215-2217)TTT>TGT p.F739C USH2A_uc001hkv.2_Missense_Mutation_p.F739C NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 739 Laminin EGF-like 4.|Extracellular (Potential). F -> L (in RP39; uncertain pathogenicity). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AACATCATTAAAGCTTCGGAG 0.393 HNSCC(13;0.011) 3 158 --- --- --- --- PASS RRP15 51018 broad.mit.edu 37 1 218480911 218480911 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:218480911G>T uc001hlj.2 + 4 672 c.642G>T c.(640-642)TTG>TTT p.L214F NM_016052 NP_057136 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog 214 mitochondrion|nucleolus protein binding 0 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) TCAGTGTTTTGAGAGGGATGG 0.368 7 38 --- --- --- --- PASS SLC30A10 55532 broad.mit.edu 37 1 220091807 220091807 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:220091807G>A uc001hlw.2 - 3 959 c.748C>T c.(748-750)CTG>TTG p.L250L SLC30A10_uc001hlu.1_RNA|SLC30A10_uc001hlv.2_Silent_p.L5L|SLC30A10_uc001hlx.2_Silent_p.L25L NM_018713 NP_061183 Q6XR72 ZNT10_HUMAN solute carrier family 30 (zinc transporter), 250 Helical; (Potential). zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity 0 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) ACGGACCCCAGGGCATCTCCC 0.527 19 84 --- --- --- --- PASS SIPA1L2 57568 broad.mit.edu 37 1 232650395 232650395 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:232650395G>T uc001hvg.2 - 1 849 c.691C>A c.(691-693)CCT>ACT p.P231T NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 231 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AAAAATTCAGGGAACCCAAAA 0.458 48 95 --- --- --- --- PASS CHRM3 1131 broad.mit.edu 37 1 240072470 240072470 + Nonsense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:240072470C>G uc001hyp.2 + 5 2498 c.1719C>G c.(1717-1719)TAC>TAG p.Y573* NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 573 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) AGCAGCAGTACCAGCAGAGAC 0.493 17 61 --- --- --- --- PASS OR2W5 441932 broad.mit.edu 37 1 247655152 247655152 + Silent SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:247655152G>C uc001icz.1 + 1 723 c.723G>C c.(721-723)CTG>CTC p.L241L NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TTCCACACCTGCTCTTCTCAC 0.562 44 77 --- --- --- --- PASS OR2G3 81469 broad.mit.edu 37 1 247769620 247769620 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:247769620C>A uc010pyz.1 + 1 733 c.733C>A c.(733-735)CTT>ATT p.L245I NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTCCTCCCACCTTACAGTGGT 0.478 33 34 --- --- --- --- PASS OR14A16 284532 broad.mit.edu 37 1 247978591 247978591 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:247978591C>A uc001idm.1 - 1 441 c.441G>T c.(439-441)TGG>TGT p.W147C NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCCCATACAGCCAAGACACAG 0.512 39 87 --- --- --- --- PASS OR2T6 254879 broad.mit.edu 37 1 248551196 248551196 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:248551196C>A uc001iei.1 + 1 287 c.287C>A c.(286-288)GCC>GAC p.A96D NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTTTCATCGCCTGCACTGCT 0.532 41 82 --- --- --- --- PASS OR2T6 254879 broad.mit.edu 37 1 248551197 248551197 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr1:248551197C>A uc001iei.1 + 1 288 c.288C>A c.(286-288)GCC>GCA p.A96A NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTTTCATCGCCTGCACTGCTC 0.532 41 83 --- --- --- --- PASS RSAD2 91543 broad.mit.edu 37 2 7018277 7018277 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:7018277G>A uc002qyp.1 + 1 482 c.346G>A c.(346-348)GGT>AGT p.G116S NM_080657 NP_542388 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 116 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) TAAGGAAGCTGGTGAGTACAT 0.512 4 32 --- --- --- --- PASS NTSR2 23620 broad.mit.edu 37 2 11798693 11798693 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:11798693G>T uc002rbq.3 - 4 1219 c.1145C>A c.(1144-1146)CCC>CAC p.P382H NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 382 Cytoplasmic (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) CCGCTTCATGGGGTGGTGCTC 0.567 11 86 --- --- --- --- PASS MSGN1 343930 broad.mit.edu 37 2 17998202 17998202 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:17998202C>A uc010yjt.1 + 1 417 c.417C>A c.(415-417)ACC>ACA p.T139T NM_001105569 NP_001099039 A6NI15 MSGN1_HUMAN mesogenin 1 139 Helix-loop-helix motif. cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGATGAGGACCTTGGCAGATG 0.602 10 44 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21250815 21250815 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:21250815G>A uc002red.2 - 14 2080 c.1952C>T c.(1951-1953)GCC>GTC p.A651V NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 651 Vitellogenin. 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) TTTGGCTGAGGCTGGGTCAAG 0.398 24 127 --- --- --- --- PASS DNMT3A 1788 broad.mit.edu 37 2 25463181 25463181 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:25463181C>T uc002rgc.2 - 19 2569 c.2312G>A c.(2311-2313)CGA>CAA p.R771Q DNMT3A_uc002rgd.2_Missense_Mutation_p.R771Q|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.R582Q NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 771 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.R771L(1) haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCGAGAAATCGCGAGATGTC 0.542 Mis|F|N|S AML 7 133 --- --- --- --- PASS ASXL2 55252 broad.mit.edu 37 2 25965964 25965964 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:25965964G>A uc002rgs.2 - 12 3463 c.3242C>T c.(3241-3243)TCA>TTA p.S1081L ASXL2_uc002rgt.1_Intron NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 1081 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGGCACAACTGAGAGAAGATT 0.502 24 109 --- --- --- --- PASS GPR113 165082 broad.mit.edu 37 2 26534385 26534385 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:26534385C>T uc002rhe.3 - 11 2211 c.2211G>A c.(2209-2211)CAG>CAA p.Q737Q GPR113_uc010yky.1_Silent_p.Q668Q|GPR113_uc002rhb.1_Silent_p.Q340Q|GPR113_uc010eyk.1_Silent_p.Q538Q|GPR113_uc002rhc.1_Silent_p.Q340Q|GPR113_uc002rhd.1_RNA NM_001145168 NP_001138640 Q8IZF5 GP113_HUMAN G-protein coupled receptor 113 isoform 1 737 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACTGGCCACCTGTGCCTGGC 0.607 20 109 --- --- --- --- PASS OTOF 9381 broad.mit.edu 37 2 26706386 26706386 + Missense_Mutation SNP C T T rs146086924 TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:26706386C>T uc002rhk.2 - 13 1463 c.1336G>A c.(1336-1338)GGT>AGT p.G446S NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 446 Cytoplasmic (Potential).|C2 2. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGTTTTCACCGATGAAAGCC 0.552 13 61 --- --- --- --- PASS PLB1 151056 broad.mit.edu 37 2 28754978 28754978 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:28754978C>A uc002rmb.1 + 9 472 c.472C>A c.(472-474)CTT>ATT p.L158I PLB1_uc010ezj.1_Missense_Mutation_p.L158I NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 158 4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) TATTCAGCAACTTGACTTTCA 0.408 31 236 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33623585 33623585 + Silent SNP T C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:33623585T>C uc002ros.2 + 34 5142 c.5142T>C c.(5140-5142)AAT>AAC p.N1714N LTBP1_uc002rot.2_Silent_p.N1388N|LTBP1_uc002rou.2_Silent_p.N1387N|LTBP1_uc002rov.2_Silent_p.N1334N|LTBP1_uc010ymz.1_Silent_p.N1345N|LTBP1_uc010yna.1_Silent_p.N1292N|LTBP1_uc010ynb.1_Silent_p.N611N NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1713 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CCGCCTTGAATTTAGAGAAAG 0.433 35 66 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50723113 50723113 + Silent SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:50723113G>T uc010fbq.2 - 15 4597 c.3120C>A c.(3118-3120)CTC>CTA p.L1040L NRXN1_uc002rxb.3_Silent_p.L672L|NRXN1_uc002rxe.3_Silent_p.L1000L|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TTACAGTGTGGAGGTTGCTGG 0.448 4 45 --- --- --- --- PASS ERLEC1 27248 broad.mit.edu 37 2 54014354 54014354 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:54014354G>A uc002rxl.2 + 1 287 c.7G>A c.(7-9)GAA>AAA p.E3K ASB3_uc002rxg.1_5'Flank|ASB3_uc002rxh.1_5'Flank|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_5'Flank|ERLEC1_uc002rxm.2_Missense_Mutation_p.E3K|ERLEC1_uc002rxn.2_Missense_Mutation_p.E3K NM_015701 NP_056516 Q96DZ1 ERLEC_HUMAN erlectin isoform 1 3 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding ovary(2) 2 GAGGATGGAGGAAGGAGGCGG 0.592 4 26 --- --- --- --- PASS C2orf86 51057 broad.mit.edu 37 2 63631244 63631244 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:63631244G>C uc002sch.2 - 10 1820 c.1374C>G c.(1372-1374)ATC>ATG p.I458M C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.I299M|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.I266M|C2orf86_uc002sci.1_Missense_Mutation_p.I434M|C2orf86_uc010fcr.1_Missense_Mutation_p.I348M NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 458 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 GGAGATCATAGATATCACTAC 0.393 32 134 --- --- --- --- PASS UGP2 7360 broad.mit.edu 37 2 64112851 64112851 + Nonsense_Mutation SNP T A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:64112851T>A uc002scm.2 + 6 1010 c.704T>A c.(703-705)TTG>TAG p.L235* UGP2_uc002scl.2_Nonsense_Mutation_p.L224*|UGP2_uc010ypx.1_Nonsense_Mutation_p.L244* NM_006759 NP_006750 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 isoform a 235 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity 0 AACTCTGGATTGCTTGATACC 0.403 49 176 --- --- --- --- PASS PCYOX1 51449 broad.mit.edu 37 2 70486688 70486688 + Silent SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:70486688C>G uc002sgn.3 + 2 375 c.309C>G c.(307-309)GTC>GTG p.V103V PCYOX1_uc010fdo.2_Silent_p.V26V|PCYOX1_uc010yqu.1_Intron NM_016297 NP_057381 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 precursor 103 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity central_nervous_system(1) 1 AACGTTTTGTCAAAGACCTGG 0.473 48 177 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71780187 71780187 + Nonsense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:71780187C>G uc002sie.2 + 20 2175 c.1799C>G c.(1798-1800)TCA>TGA p.S600* DYSF_uc010feg.2_Nonsense_Mutation_p.S631*|DYSF_uc010feh.2_Nonsense_Mutation_p.S586*|DYSF_uc002sig.3_Nonsense_Mutation_p.S586*|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Nonsense_Mutation_p.S600*|DYSF_uc010fef.2_Nonsense_Mutation_p.S617*|DYSF_uc010fei.2_Nonsense_Mutation_p.S617*|DYSF_uc010fek.2_Nonsense_Mutation_p.S618*|DYSF_uc010fej.2_Nonsense_Mutation_p.S587*|DYSF_uc010fel.2_Nonsense_Mutation_p.S587*|DYSF_uc010feo.2_Nonsense_Mutation_p.S632*|DYSF_uc010fem.2_Nonsense_Mutation_p.S601*|DYSF_uc010fen.2_Nonsense_Mutation_p.S618*|DYSF_uc002sif.2_Nonsense_Mutation_p.S601* NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 600 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 GCCTTCTACTCAGCCACCATG 0.567 20 48 --- --- --- --- PASS GCC2 9648 broad.mit.edu 37 2 109109244 109109244 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:109109244G>T uc002tec.2 + 19 4599 c.4445G>T c.(4444-4446)AGA>ATA p.R1482I GCC2_uc002ted.2_Missense_Mutation_p.R1381I NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 1482 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 CCGACCACAAGAAGTATGTAT 0.368 16 35 --- --- --- --- PASS POTEF 728378 broad.mit.edu 37 2 130872872 130872872 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:130872872C>T uc010fmh.2 - 4 951 c.551G>A c.(550-552)GGG>GAG p.G184E NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 184 ANK 1. cell cortex ATP binding skin(3)|ovary(2) 5 TTCTGAATTCCCATTGGCAGA 0.423 23 149 --- --- --- --- PASS FAM123C 205147 broad.mit.edu 37 2 131520908 131520908 + Silent SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:131520908C>G uc002trw.2 + 2 1453 c.1263C>G c.(1261-1263)GCC>GCG p.A421A FAM123C_uc010fmv.2_Silent_p.A421A|FAM123C_uc010fms.1_Silent_p.A421A|FAM123C_uc010fmt.1_Silent_p.A421A|FAM123C_uc010fmu.1_Silent_p.A421A NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 421 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GTGGGGACGCCCTCTACGAGC 0.632 15 62 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136548373 136548373 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:136548373C>G uc002tuu.1 - 15 5201 c.5190G>C c.(5188-5190)AGG>AGC p.R1730S NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1730 Extracellular (Potential).|4.|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) TCAGGATCCTCCTGAAGCCAA 0.483 19 83 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141598560 141598560 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:141598560C>T uc002tvj.1 - 30 6013 c.5041G>A c.(5041-5043)GAT>AAT p.D1681N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1681 Extracellular (Potential).|LDL-receptor class B 15. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAAGAGCCATCTAGCCTTGCC 0.398 TSP Lung(27;0.18) 6 78 --- --- --- --- PASS PKP4 8502 broad.mit.edu 37 2 159522953 159522953 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:159522953G>A uc002tzv.2 + 16 2866 c.2606G>A c.(2605-2607)CGA>CAA p.R869Q PKP4_uc002tzu.2_Missense_Mutation_p.R869Q|PKP4_uc002tzw.2_Missense_Mutation_p.R869Q|PKP4_uc002tzx.2_Missense_Mutation_p.R526Q|PKP4_uc002uaa.2_Missense_Mutation_p.R721Q|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.R50Q|PKP4_uc002uad.2_RNA|PKP4_uc002uae.1_5'Flank NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 869 ARM 8. cell adhesion desmosome protein binding ovary(5)|skin(2) 7 GCGGCCGTCCGAAAAGAAAAG 0.443 HNSCC(62;0.18) 26 142 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166908383 166908383 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:166908383C>T uc010zcz.1 - 6 828 c.810G>A c.(808-810)ATG>ATA p.M270I SCN1A_uc002udo.3_Missense_Mutation_p.M139I|SCN1A_uc010fpk.2_Missense_Mutation_p.M139I NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 270 Helical; Name=S5 of repeat I; (By similarity).|I. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCAGGTTGCCCATGAACAGCT 0.433 15 89 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168106459 168106459 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:168106459G>C uc002udx.2 + 8 8575 c.8557G>C c.(8557-8559)GTC>CTC p.V2853L XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V2678L|XIRP2_uc010fpq.2_Missense_Mutation_p.V2631L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.V199L NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2678 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ACCAAAGGTCGTCAAGCAAAA 0.353 23 108 --- --- --- --- PASS DYNC1I2 1781 broad.mit.edu 37 2 172582502 172582502 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:172582502C>G uc002uha.1 + 9 846 c.681C>G c.(679-681)GAC>GAG p.D227E DYNC1I2_uc002uhc.2_Missense_Mutation_p.D201E|DYNC1I2_uc002uhb.1_Missense_Mutation_p.D201E|DYNC1I2_uc010zds.1_Missense_Mutation_p.D219E|DYNC1I2_uc002uhd.1_Missense_Mutation_p.D221E|DYNC1I2_uc002uhe.1_Missense_Mutation_p.D227E|DYNC1I2_uc002uhf.1_Missense_Mutation_p.D201E|DYNC1I2_uc010zdt.1_Missense_Mutation_p.D219E|DYNC1I2_uc002uhg.1_Missense_Mutation_p.D142E|DYNC1I2_uc010zdu.1_5'Flank NM_001378 NP_001369 Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 227 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.198) GTTTCTTTGACCATTCTACAA 0.353 9 41 --- --- --- --- PASS SLC25A12 8604 broad.mit.edu 37 2 172669850 172669850 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:172669850C>A uc002uhh.2 - 11 1259 c.1170G>T c.(1168-1170)AGG>AGT p.R390S SLC25A12_uc010fqh.2_Missense_Mutation_p.R283S NM_003705 NP_003696 O75746 CMC1_HUMAN solute carrier family 25, member 12 390 Solcar 1. gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) CTTACTCACCCCTGTAGAGTC 0.433 17 77 --- --- --- --- PASS DLX2 1746 broad.mit.edu 37 2 172965551 172965551 + Nonsense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:172965551G>T uc002uhn.2 - 3 919 c.707C>A c.(706-708)TCA>TAA p.S236* NM_004405 NP_004396 Q07687 DLX2_HUMAN distal-less homeobox 2 236 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.216) GGCCGGCGCTGAGACTGGCGG 0.701 12 18 --- --- --- --- PASS ITGA6 3655 broad.mit.edu 37 2 173338886 173338886 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:173338886G>C uc002uhp.1 + 6 1082 c.879G>C c.(877-879)AAG>AAC p.K293N ITGA6_uc010fqk.1_Missense_Mutation_p.K179N|ITGA6_uc010zdy.1_Missense_Mutation_p.K174N|ITGA6_uc002uho.1_Missense_Mutation_p.K293N|ITGA6_uc010fqm.1_5'Flank NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 332 FG-GAP 4.|Extracellular (Potential). blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) TTTTGCTGAAGAGAGACATGA 0.478 25 57 --- --- --- --- PASS COL3A1 1281 broad.mit.edu 37 2 189867042 189867042 + Missense_Mutation SNP G T T rs121912920 TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:189867042G>T uc002uqj.1 + 35 2527 c.2410G>T c.(2410-2412)GGC>TGC p.G804C NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 804 Triple-helical region. G -> S (in EDS3). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AGGTGAAACTGGCCCTCCAGG 0.438 24 38 --- --- --- --- PASS PMS1 5378 broad.mit.edu 37 2 190742031 190742031 + Missense_Mutation SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:190742031A>T uc002urh.3 + 13 3197 c.2668A>T c.(2668-2670)ATG>TTG p.M890L PMS1_uc002urk.3_Missense_Mutation_p.M851L|PMS1_uc002uri.3_Missense_Mutation_p.M728L|PMS1_uc010zgc.1_Missense_Mutation_p.M714L|PMS1_uc010zgd.1_Missense_Mutation_p.M714L|PMS1_uc002urj.2_RNA|PMS1_uc010frz.2_Missense_Mutation_p.M206L|PMS1_uc002url.2_Missense_Mutation_p.M513L|PMS1_uc002urm.2_RNA NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 890 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) ACAATTACCCATGTACTTATC 0.403 Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 4 60 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196788444 196788444 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:196788444C>A uc002utj.3 - 23 3801 c.3700G>T c.(3700-3702)GTA>TTA p.V1234L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1234 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CCCAGAGTTACGCGATTCTGC 0.398 14 63 --- --- --- --- PASS ABCA12 26154 broad.mit.edu 37 2 215851337 215851337 + Silent SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:215851337G>C uc002vew.2 - 28 4312 c.4092C>G c.(4090-4092)CTC>CTG p.L1364L ABCA12_uc002vev.2_Silent_p.L1046L|ABCA12_uc010zjn.1_Silent_p.L291L NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1364 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGTTCAGATTGAGGTTATCAA 0.428 14 69 --- --- --- --- PASS RNF25 64320 broad.mit.edu 37 2 219532650 219532650 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:219532650C>T uc002vit.2 - 5 430 c.342G>A c.(340-342)CTG>CTA p.L114L RNF25_uc010fvw.2_Silent_p.L2L NM_022453 NP_071898 Q96BH1 RNF25_HUMAN ring finger protein 25 114 RWD. positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGAGTTCATACAGCATGGCAG 0.502 83 102 --- --- --- --- PASS FAM134A 79137 broad.mit.edu 37 2 220047133 220047133 + Nonsense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:220047133C>T uc002vjw.3 + 9 1550 c.1414C>T c.(1414-1416)CAG>TAG p.Q472* FAM134A_uc010fwc.2_Nonsense_Mutation_p.Q265*|FAM134A_uc002vjx.2_Intron NM_024293 NP_077269 Q8NC44 F134A_HUMAN hypothetical protein LOC79137 472 endoplasmic reticulum|integral to membrane ovary(1)|central_nervous_system(1) 2 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCTGTTCCCCAGGACTCACC 0.622 45 58 --- --- --- --- PASS CUL3 8452 broad.mit.edu 37 2 225449700 225449700 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:225449700G>A uc002vny.2 - 1 411 c.27C>T c.(25-27)GGC>GGT p.G9G CUL3_uc010zls.1_Silent_p.G9G NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 9 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) CCTTCCGGCTGCCCGTGCCTT 0.602 4 14 --- --- --- --- PASS SNED1 25992 broad.mit.edu 37 2 241988480 241988480 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:241988480G>A uc002wah.1 + 11 1546 c.1546G>A c.(1546-1548)GAT>AAT p.D516N NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN 6720455I24Rik homolog precursor 516 Follistatin-like 2. cell-matrix adhesion extracellular region calcium ion binding breast(1)|central_nervous_system(1) 2 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) ACAGTGCCCAGATGGGGGCTA 0.587 5 16 --- --- --- --- PASS PASK 23178 broad.mit.edu 37 2 242075391 242075391 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:242075391G>T uc002wao.1 - 8 1293 c.1201C>A c.(1201-1203)CAG>AAG p.Q401K PASK_uc010zol.1_Missense_Mutation_p.Q215K|PASK_uc010zom.1_Missense_Mutation_p.Q366K|PASK_uc010fzl.1_Missense_Mutation_p.Q401K|PASK_uc010zon.1_Missense_Mutation_p.Q182K|PASK_uc002wap.2_5'Flank|PASK_uc002waq.2_Missense_Mutation_p.Q401K NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 401 PAS 2. regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) TCTGGGAGCTGTAATGAGCTG 0.557 64 109 --- --- --- --- PASS ANO7 50636 broad.mit.edu 37 2 242135205 242135205 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr2:242135205C>A uc002wax.2 + 4 519 c.416C>A c.(415-417)ACC>AAC p.T139N ANO7_uc002waw.2_Missense_Mutation_p.T138N NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 139 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 ATGCACAGGACCTGGCGGGAG 0.607 10 55 --- --- --- --- PASS WNT7A 7476 broad.mit.edu 37 3 13896073 13896073 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:13896073C>A uc003bye.1 - 3 831 c.526G>T c.(526-528)GCC>TCC p.A176S NM_004625 NP_004616 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, 176 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity ovary(2)|breast(1) 3 AGAGTCCGGGCATTCTGCTTG 0.582 54 232 --- --- --- --- PASS STT3B 201595 broad.mit.edu 37 3 31677540 31677540 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:31677540C>T uc011axe.1 + 16 2465 c.2465C>T c.(2464-2466)TCT>TTT p.S822F NM_178862 NP_849193 Q8TCJ2 STT3B_HUMAN source of immunodominant MHC-associated 822 S -> F (in Ref. 3; AAH15880). protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding 0 AAGAAAATATCTAAGAAGACT 0.368 13 48 --- --- --- --- PASS PRSS42 339906 broad.mit.edu 37 3 46874683 46874683 + Missense_Mutation SNP T G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:46874683T>G uc011bap.1 - 3 385 c.385A>C c.(385-387)AGT>CGT p.S129R PRSS42_uc003cqj.2_Missense_Mutation_p.S25R NM_182702 NP_874361 Q7Z5A4 PRS42_HUMAN testis serine protease 2 precursor 129 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity pancreas(1) 1 ATCTTGACACTGTAATGGAAA 0.448 5 39 --- --- --- --- PASS COL7A1 1294 broad.mit.edu 37 3 48605026 48605026 + Missense_Mutation SNP T A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:48605026T>A uc003ctz.2 - 108 8028 c.8027A>T c.(8026-8028)GAG>GTG p.E2676V NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2676 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GATCAGGCCCTCCTTGCCAGG 0.637 20 58 --- --- --- --- PASS ACTR8 93973 broad.mit.edu 37 3 53914030 53914030 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:53914030C>T uc003dhd.2 - 2 289 c.230G>A c.(229-231)CGA>CAA p.R77Q ACTR8_uc003dhb.2_5'Flank|ACTR8_uc003dhc.2_5'UTR NM_022899 NP_075050 Q9H981 ARP8_HUMAN actin-related protein 8 77 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) TTTGTGTCTTCGGGCAATGAC 0.478 30 72 --- --- --- --- PASS CCDC66 285331 broad.mit.edu 37 3 56651142 56651142 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:56651142G>A uc003dhz.2 + 14 1933 c.1846G>A c.(1846-1848)GAC>AAC p.D616N CCDC66_uc003dhy.2_Missense_Mutation_p.D252N|CCDC66_uc003dhu.2_Missense_Mutation_p.D582N|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_5'UTR NM_001141947 NP_001135419 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 isoform 1 616 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) TTTTTTAGATGACTTAAATAT 0.274 7 17 --- --- --- --- PASS CADPS 8618 broad.mit.edu 37 3 62388831 62388831 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:62388831G>A uc003dll.2 - 29 4167 c.3807C>T c.(3805-3807)ATC>ATT p.I1269I CADPS_uc003dlj.1_Silent_p.I224I|CADPS_uc003dlk.1_Silent_p.I717I|CADPS_uc003dlm.2_Silent_p.I1230I|CADPS_uc003dln.2_Silent_p.I1190I NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 1269 Mediates targeting and association with DCVs (By similarity). exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) ACCAGGTGCAGATCACGTTCA 0.408 13 42 --- --- --- --- PASS SYNPR 132204 broad.mit.edu 37 3 63601157 63601157 + Silent SNP A G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:63601157A>G uc003dlq.2 + 5 1167 c.798A>G c.(796-798)TAA>TAG p.*266* SYNPR_uc003dlp.2_Silent_p.*286*|SYNPR_uc011bfk.1_RNA|SYNPR_uc011bfl.1_RNA|SYNPR_uc010hnt.2_Silent_p.*275*|SYNPR_uc011bfm.1_RNA NM_144642 NP_653243 Q8TBG9 SYNPR_HUMAN synaptoporin isoform 2 266 cell junction|integral to membrane|synaptic vesicle membrane|synaptosome transporter activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904) ATCAGATTTAACAGAGTAGCA 0.453 8 43 --- --- --- --- PASS PRICKLE2 166336 broad.mit.edu 37 3 64184592 64184592 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:64184592C>A uc003dmf.2 - 2 598 c.12G>T c.(10-12)GTG>GTT p.V4V NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 4 cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CCAGCGGCATCACTGTCACCA 0.483 16 75 --- --- --- --- PASS OR5K4 403278 broad.mit.edu 37 3 98073316 98073316 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:98073316C>G uc011bgv.1 + 1 619 c.619C>G c.(619-621)CAA>GAA p.Q207E NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, 207 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 AATACCAATTCAAATCTTTAC 0.333 7 52 --- --- --- --- PASS GPR15 2838 broad.mit.edu 37 3 98251486 98251486 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:98251486C>A uc011bgy.1 + 1 609 c.609C>A c.(607-609)ACC>ACA p.T203T NM_005290 NP_005281 P49685 GPR15_HUMAN G protein-coupled receptor 15 203 Helical; Name=5; (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) TAATTTTCACCTTTTTTGTCC 0.448 37 78 --- --- --- --- PASS GPR15 2838 broad.mit.edu 37 3 98251494 98251494 + Missense_Mutation SNP T G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:98251494T>G uc011bgy.1 + 1 617 c.617T>G c.(616-618)GTC>GGC p.V206G NM_005290 NP_005281 P49685 GPR15_HUMAN G protein-coupled receptor 15 206 Helical; Name=5; (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) ACCTTTTTTGTCCCTTTGTTG 0.433 35 74 --- --- --- --- PASS CPOX 1371 broad.mit.edu 37 3 98304461 98304461 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:98304461C>A uc003dsx.2 - 5 1089 c.996G>T c.(994-996)CGG>CGT p.R332R NM_000097 NP_000088 P36551 HEM6_HUMAN coproporphyrinogen oxidase precursor 332 mitochondrial intermembrane space coproporphyrinogen oxidase activity|protein homodimerization activity 0 CACCAATGCCCCGCCGTTCTC 0.468 4 132 --- --- --- --- PASS TBC1D23 55773 broad.mit.edu 37 3 100000667 100000667 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:100000667C>T uc003dtt.2 + 3 424 c.247C>T c.(247-249)CAC>TAC p.H83Y TBC1D23_uc003dts.2_Missense_Mutation_p.H83Y NM_018309 NP_060779 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 83 Rab-GAP TBC. intracellular Rab GTPase activator activity ovary(1)|liver(1) 2 GAACACTATTCACAAAGATTG 0.353 15 72 --- --- --- --- PASS NFKBIZ 64332 broad.mit.edu 37 3 101574241 101574241 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:101574241G>A uc003dvp.2 + 8 1708 c.1593G>A c.(1591-1593)GCG>GCA p.A531A NFKBIZ_uc003dvo.2_Silent_p.A431A|NFKBIZ_uc010hpo.2_Silent_p.A431A|NFKBIZ_uc003dvq.2_Silent_p.A409A NM_031419 NP_113607 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene 531 Interaction with NFKB1/p50 (By similarity).|ANK 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(2) 2 ATCTGCAGGCGATTCAGAAGG 0.373 28 57 --- --- --- --- PASS DZIP3 9666 broad.mit.edu 37 3 108409675 108409675 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:108409675G>A uc003dxd.2 + 32 3980 c.3558G>A c.(3556-3558)ACG>ACA p.T1186T DZIP3_uc003dxf.1_Silent_p.T1186T|DZIP3_uc011bhm.1_Silent_p.T637T NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 1186 RING-type; atypical. protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CATGTCCAACGTGCAGACTCC 0.502 30 92 --- --- --- --- PASS MORC1 27136 broad.mit.edu 37 3 108723703 108723703 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:108723703C>G uc003dxl.2 - 20 2133 c.2046G>C c.(2044-2046)TGG>TGC p.W682C MORC1_uc011bhn.1_Missense_Mutation_p.W661C NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 682 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 GTTGAGCTCTCCAGACAGTGG 0.368 63 332 --- --- --- --- PASS C3orf30 152405 broad.mit.edu 37 3 118865623 118865623 + Missense_Mutation SNP G A A rs139845696 byFrequency TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:118865623G>A uc003ecb.1 + 1 627 c.587G>A c.(586-588)CGC>CAC p.R196H IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.R196H NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 196 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) CAGATGGACCGCAGAATGTCT 0.517 29 113 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121414880 121414880 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:121414880C>A uc003eei.3 - 13 4601 c.4475G>T c.(4474-4476)CGA>CTA p.R1492L GOLGB1_uc010hrc.2_Missense_Mutation_p.R1497L|GOLGB1_uc003eej.3_Missense_Mutation_p.R1458L|GOLGB1_uc011bjm.1_Missense_Mutation_p.R1378L|GOLGB1_uc010hrd.1_Missense_Mutation_p.R1456L NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1492 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TGCTTCTTTTCGGGAAATAAG 0.418 56 287 --- --- --- --- PASS PLXNA1 5361 broad.mit.edu 37 3 126747835 126747835 + Splice_Site SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:126747835G>C uc003ejg.2 + 25 4605 c.4601_splice c.e25-1 p.E1534_splice PLXNA1_uc003ejh.2_Splice_Site_p.E202_splice NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) TCCTCCCCCAGAGTGGCGCCA 0.642 8 26 --- --- --- --- PASS RUVBL1 8607 broad.mit.edu 37 3 127806642 127806642 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:127806642C>A uc003ekh.2 - 9 1130 c.1026G>T c.(1024-1026)GAG>GAT p.E342D RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Missense_Mutation_p.E282D|RUVBL1_uc010hss.2_Missense_Mutation_p.E342D NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 342 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.181) ATGTGATGTCCTCAGTGCCTC 0.488 4 73 --- --- --- --- PASS COL29A1 256076 broad.mit.edu 37 3 130159395 130159395 + Silent SNP A C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:130159395A>C uc010htj.1 + 35 6707 c.6213A>C c.(6211-6213)CCA>CCC p.P2071P COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Silent_p.P110P NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 2071 VWFA 9.|Nonhelical region. axon guidance|cell adhesion collagen 0 ATCTTTTTCCAGAAACACCCT 0.398 16 64 --- --- --- --- PASS ACPL2 92370 broad.mit.edu 37 3 140998308 140998308 + Silent SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:140998308A>T uc003etu.2 + 6 626 c.327A>T c.(325-327)ACA>ACT p.T109T ACPL2_uc003etv.2_Silent_p.T109T|ACPL2_uc011bna.1_Silent_p.T71T|ACPL2_uc011bnb.1_Silent_p.T92T NM_152282 NP_689495 Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 precursor 109 extracellular region acid phosphatase activity skin(1) 1 TTCCCAAAACAAAGCGACCAG 0.448 OREG0015847 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 79 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164907140 164907140 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:164907140C>T uc003fej.3 - 2 1923 c.1479G>A c.(1477-1479)CGG>CGA p.R493R SLITRK3_uc003fek.2_Silent_p.R493R NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 493 LRR 10.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GCTGGATTTCCCGGATGACAT 0.488 HNSCC(40;0.11) 5 57 --- --- --- --- PASS ARPM1 84517 broad.mit.edu 37 3 169487114 169487114 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:169487114G>T uc003ffs.1 - 1 570 c.195C>A c.(193-195)TTC>TTA p.F65L NM_032487 NP_115876 Q9BYD9 ARPM1_HUMAN actin related protein M1 65 cytoplasm|cytoskeleton 0 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) GGTACCTGATGAACAGCGAGC 0.478 8 19 --- --- --- --- PASS USP13 8975 broad.mit.edu 37 3 179448430 179448430 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:179448430C>T uc003fkh.2 + 10 1268 c.1187C>T c.(1186-1188)TCA>TTA p.S396L USP13_uc003fkf.2_Missense_Mutation_p.S396L NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 396 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) GGCCTTCTCTCAGGCCAGTAT 0.418 23 43 --- --- --- --- PASS LAMP3 27074 broad.mit.edu 37 3 182871557 182871557 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:182871557C>G uc003flh.3 - 2 896 c.672G>C c.(670-672)AAG>AAC p.K224N NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 224 Lumenal (Potential). cell proliferation integral to membrane|lysosomal membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) AAATTCCAGTCTTGACTGACG 0.547 28 107 --- --- --- --- PASS C3orf43 255798 broad.mit.edu 37 3 196236461 196236461 + Missense_Mutation SNP C T T rs79673145 by1000genomes TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr3:196236461C>T uc003fws.2 - 2 287 c.130G>A c.(130-132)GAA>AAA p.E44K C3orf43_uc003fwr.2_Missense_Mutation_p.E36K NM_001077657 NP_001071125 Q147U7 CC043_HUMAN hypothetical protein LOC255798 44 integral to membrane ovary(1) 1 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00298) CTATGATGTTCGAATTTCTGC 0.438 28 64 --- --- --- --- PASS ZNF595 152687 broad.mit.edu 37 4 59383 59383 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:59383G>C uc003fzv.1 + 2 220 c.64G>C c.(64-66)GAC>CAC p.D22H ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Missense_Mutation_p.D22H|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_Intron NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 22 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) GAAATGTCTGGACCCTGCCCA 0.413 36 491 --- --- --- --- PASS TBC1D14 57533 broad.mit.edu 37 4 6995917 6995917 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:6995917G>A uc011bwg.1 + 4 929 c.850G>A c.(850-852)GAA>AAA p.E284K TBC1D14_uc003gjs.3_Missense_Mutation_p.E284K|TBC1D14_uc010idh.2_Missense_Mutation_p.E4K NM_001113361 NP_001106832 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 isoform a 284 intracellular Rab GTPase activator activity ovary(1)|pancreas(1) 2 ctaggaatatgaagacaaggc 0.284 17 59 --- --- --- --- PASS DEFB131 644414 broad.mit.edu 37 4 9452086 9452086 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:9452086C>G uc011bwt.1 + 2 59 c.59C>G c.(58-60)GCC>GGC p.A20G NM_001040448 NP_001035538 P59861 DB131_HUMAN defensin, beta 131 precursor 20 A -> G (in Ref. 1; AAQ09523). defense response to bacterium extracellular region 0 CTTTTTAAAGCCAGAAGCTTC 0.284 5 32 --- --- --- --- PASS CLRN2 645104 broad.mit.edu 37 4 17517048 17517048 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:17517048G>T uc003gpg.1 + 1 261 c.159G>T c.(157-159)GAG>GAT p.E53D NM_001079827 NP_001073296 A0PK11 CLRN2_HUMAN clarin 2 53 integral to membrane 0 CAGACAGAGAGCTGGTCAAGT 0.552 11 47 --- --- --- --- PASS PPARGC1A 10891 broad.mit.edu 37 4 23815388 23815388 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:23815388G>A uc003gqs.2 - 8 1838 c.1718C>T c.(1717-1719)TCT>TTT p.S573F PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 573 Arg/Ser-rich. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) CCTGTGTCGAGAAAAGGACCT 0.448 15 41 --- --- --- --- PASS KIAA1211 57482 broad.mit.edu 37 4 57182826 57182826 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:57182826C>A uc003hbk.2 + 8 3549 c.3158C>A c.(3157-3159)CCT>CAT p.P1053H KIAA1211_uc010iha.2_Missense_Mutation_p.P1046H|KIAA1211_uc011bzz.1_Missense_Mutation_p.P963H|KIAA1211_uc003hbm.1_Missense_Mutation_p.P939H NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 1053 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) CAAGAGAAACCTTCTCAAACA 0.468 14 29 --- --- --- --- PASS TECRL 253017 broad.mit.edu 37 4 65188436 65188436 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:65188436C>G uc003hcv.2 - 4 515 c.406G>C c.(406-408)GAC>CAC p.D136H TECRL_uc003hcw.2_Missense_Mutation_p.D136H NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 136 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 TGACCTAGGTCTGTAGCATAC 0.308 16 64 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66213899 66213899 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:66213899C>A uc003hcy.2 - 15 2724 c.2531G>T c.(2530-2532)TGG>TTG p.W844L EPHA5_uc003hcx.2_Missense_Mutation_p.W776L|EPHA5_uc003hcz.2_Missense_Mutation_p.W822L|EPHA5_uc011cah.1_Missense_Mutation_p.W845L|EPHA5_uc011cai.1_Missense_Mutation_p.W823L|EPHA5_uc003hda.2_Missense_Mutation_p.W845L NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 844 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TGGGGCAGTCCATCTGATTGG 0.393 TSP Lung(17;0.13) 11 62 --- --- --- --- PASS YTHDC1 91746 broad.mit.edu 37 4 69199062 69199062 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:69199062C>G uc003hdx.2 - 5 1290 c.937G>C c.(937-939)GAT>CAT p.D313H YTHDC1_uc003hdy.2_Missense_Mutation_p.D313H NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 313 upper_aerodigestive_tract(1)|ovary(1) 2 CCACTTCTATCAAAAACAATT 0.343 64 178 --- --- --- --- PASS AFF1 4299 broad.mit.edu 37 4 88029336 88029336 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:88029336G>C uc003hqj.3 + 10 1788 c.1381G>C c.(1381-1383)GTG>CTG p.V461L AFF1_uc011ccz.1_Missense_Mutation_p.V468L|AFF1_uc003hqk.3_Missense_Mutation_p.V461L|AFF1_uc011cda.1_Missense_Mutation_p.V99L NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 461 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TCCAGAACCAGTGGCATCAGC 0.483 4 88 --- --- --- --- PASS EGF 1950 broad.mit.edu 37 4 110915914 110915914 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:110915914G>A uc003hzy.3 + 20 3335 c.2883G>A c.(2881-2883)AGG>AGA p.R961R EGF_uc011cfu.1_Silent_p.R919R|EGF_uc011cfv.1_Silent_p.R920R|EGF_uc010imk.2_Silent_p.R109R NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 961 Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) CTCACCTCAGGGAAGATGACC 0.433 15 64 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123113471 123113471 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:123113471G>T uc003ieh.2 + 9 1034 c.989G>T c.(988-990)GGA>GTA p.G330V KIAA1109_uc003iei.1_Missense_Mutation_p.G84V NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 330 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 CCATGTTGGGGACTGGATATA 0.373 19 61 --- --- --- --- PASS MMAA 166785 broad.mit.edu 37 4 146567233 146567233 + Missense_Mutation SNP G C C rs150376474 TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:146567233G>C uc003ikh.3 + 4 743 c.658G>C c.(658-660)GTG>CTG p.V220L MMAA_uc003ikg.2_Missense_Mutation_p.V220L|MMAA_uc003iki.1_RNA|MMAA_uc010iow.2_RNA NM_172250 NP_758454 Q8IVH4 MMAA_HUMAN methylmalonic aciduria type A precursor 220 mitochondrion GTP binding|nucleoside-triphosphatase activity ovary(1) 1 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTTAGGAGGCGTGACAAGGAC 0.393 21 81 --- --- --- --- PASS LRBA 987 broad.mit.edu 37 4 151752973 151752973 + Silent SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:151752973G>C uc010ipj.2 - 29 5199 c.4725C>G c.(4723-4725)CTC>CTG p.L1575L LRBA_uc003ilt.3_Silent_p.L234L|LRBA_uc003ilu.3_Silent_p.L1575L NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1575 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) ACTTACCAGAGAGTGATACAT 0.328 8 30 --- --- --- --- PASS FHDC1 85462 broad.mit.edu 37 4 153896268 153896268 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:153896268G>A uc003inf.2 + 11 1900 c.1825G>A c.(1825-1827)GAG>AAG p.E609K NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 609 actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) GGGGGGCCAGGAGGAGGCCCC 0.697 34 121 --- --- --- --- PASS RAPGEF2 9693 broad.mit.edu 37 4 160235907 160235907 + Silent SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:160235907A>T uc003iqg.3 + 3 667 c.357A>T c.(355-357)ACA>ACT p.T119T NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 119 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TTGACCGGACAGATGATGACA 0.423 26 79 --- --- --- --- PASS FSTL5 56884 broad.mit.edu 37 4 162463830 162463830 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:162463830C>A uc003iqh.2 - 9 1467 c.1031G>T c.(1030-1032)CGG>CTG p.R344L FSTL5_uc003iqi.2_Missense_Mutation_p.R343L|FSTL5_uc010iqv.2_Missense_Mutation_p.R343L NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 344 Ig-like 2. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TGGATACACCCGGATGACTGG 0.403 10 61 --- --- --- --- PASS TLL1 7092 broad.mit.edu 37 4 166978409 166978409 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:166978409G>T uc003irh.1 + 14 2441 c.1794G>T c.(1792-1794)CAG>CAT p.Q598H TLL1_uc011cjn.1_Missense_Mutation_p.Q621H|TLL1_uc011cjo.1_Missense_Mutation_p.Q422H NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 598 EGF-like 1; calcium-binding (Potential). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GCAGTTACCAGTGTGCCTGTG 0.517 9 46 --- --- --- --- PASS DDX60 55601 broad.mit.edu 37 4 169190038 169190038 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:169190038G>A uc003irp.2 - 20 3045 c.2753C>T c.(2752-2754)TCA>TTA p.S918L NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 918 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TATGGTAGCTGAAAGAGCCAA 0.348 11 74 --- --- --- --- PASS MORF4 10934 broad.mit.edu 37 4 174537601 174537601 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:174537601C>G uc011cke.1 - 1 194 c.194G>C c.(193-195)AGA>ACA p.R65T NM_006792 NP_006783 mortality factor 4 0 Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107) all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) AACTTCAACTCTGTTCATGAA 0.443 27 109 --- --- --- --- PASS STOX2 56977 broad.mit.edu 37 4 184931924 184931924 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:184931924C>A uc003ivz.1 + 3 3368 c.1933C>A c.(1933-1935)CAC>AAC p.H645N STOX2_uc003iwa.1_Missense_Mutation_p.H334N NM_020225 NP_064610 Q9P2F5 STOX2_HUMAN storkhead box 2 645 embryo development|maternal placenta development 0 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) GCAGGTCCCCCACTCCTCCAG 0.612 3 17 --- --- --- --- PASS ENPP6 133121 broad.mit.edu 37 4 185045395 185045395 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:185045395G>T uc003iwc.2 - 3 594 c.452C>A c.(451-453)CCC>CAC p.P151H NM_153343 NP_699174 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 151 Extracellular (Potential). lipid catabolic process extracellular region|integral to membrane|plasma membrane central_nervous_system(1) 1 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) GCAGTAGGTGGGTCTGACACC 0.418 33 132 --- --- --- --- PASS TLR3 7098 broad.mit.edu 37 4 187005962 187005962 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:187005962G>C uc003iyq.2 + 5 2751 c.2650G>C c.(2650-2652)GAA>CAA p.E884Q TLR3_uc011ckz.1_Missense_Mutation_p.E607Q|TLR3_uc003iyr.2_Missense_Mutation_p.E607Q NM_003265 NP_003256 O15455 TLR3_HUMAN toll-like receptor 3 precursor 884 Cytoplasmic (Potential).|TIR. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity ovary(2)|prostate(1)|lung(1)|breast(1) 5 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) AGTTCAGAAAGAACGGATAGG 0.363 19 73 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187629005 187629005 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr4:187629005G>C uc003izf.2 - 2 2165 c.1977C>G c.(1975-1977)ATC>ATG p.I659M FAT1_uc010iso.1_Missense_Mutation_p.I659M NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 659 Extracellular (Potential).|Cadherin 5. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CTGTTATGTTGATATATAATG 0.443 HNSCC(5;0.00058) 18 61 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11098820 11098820 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:11098820G>T uc003jfa.1 - 15 2649 c.2504C>A c.(2503-2505)CCA>CAA p.P835Q CTNND2_uc010itt.2_Missense_Mutation_p.P744Q|CTNND2_uc011cmy.1_Missense_Mutation_p.P498Q|CTNND2_uc011cmz.1_Missense_Mutation_p.P402Q|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.P402Q NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 835 ARM 7. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GATCCCTTTTGGTGGTTCAGC 0.507 23 70 --- --- --- --- PASS ZNF366 167465 broad.mit.edu 37 5 71739897 71739897 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:71739897G>C uc003kce.1 - 5 2107 c.1921C>G c.(1921-1923)CAG>GAG p.Q641E NM_152625 NP_689838 Q8N895 ZN366_HUMAN zinc finger protein 366 641 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GTGCAGAGCTGCTGGCTCTGG 0.652 47 205 --- --- --- --- PASS UTP15 84135 broad.mit.edu 37 5 72873704 72873704 + Silent SNP A G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:72873704A>G uc003kcw.1 + 9 1141 c.918A>G c.(916-918)GTA>GTG p.V306V UTP15_uc011cso.1_Silent_p.V287V|UTP15_uc011csp.1_Silent_p.V116V|UTP15_uc010ize.1_Silent_p.V306V NM_032175 NP_115551 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, 306 WD 7. rRNA processing cytoplasm|nucleolus 0 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) CAATAGTTGTAGGAATGACCA 0.323 12 59 --- --- --- --- PASS ZCCHC9 84240 broad.mit.edu 37 5 80604814 80604814 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:80604814G>A uc003khj.2 + 4 718 c.585G>A c.(583-585)CTG>CTA p.L195L RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Silent_p.L195L|ZCCHC9_uc003khi.2_Silent_p.L195L NM_001131035 NP_001124507 Q8N567 ZCHC9_HUMAN zinc finger, CCHC domain containing 9 195 CCHC-type 3. nucleic acid binding|zinc ion binding ovary(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34) TGGGGCACCTGTCTAGATCTT 0.393 20 84 --- --- --- --- PASS POLR3G 10622 broad.mit.edu 37 5 89781457 89781457 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:89781457G>A uc003kjq.2 + 2 273 c.73G>A c.(73-75)GAA>AAA p.E25K POLR3G_uc011cuc.1_Missense_Mutation_p.E25K NM_006467 NP_006458 O15318 RPC7_HUMAN polymerase (RNA) III (DNA directed) polypeptide 25 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA-directed RNA polymerase activity 0 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22) TAGCAAAGGTGAAAAGTTACC 0.388 26 77 --- --- --- --- PASS KCNN2 3781 broad.mit.edu 37 5 113822800 113822800 + Missense_Mutation SNP T A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:113822800T>A uc003kqo.2 + 6 1765 c.1308T>A c.(1306-1308)AAT>AAA p.N436K KCNN2_uc003kqp.2_Missense_Mutation_p.N88K|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 436 Calmodulin-binding (By similarity). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TTTACAAAAATACAAAGCTAG 0.328 14 61 --- --- --- --- PASS ALDH7A1 501 broad.mit.edu 37 5 125930765 125930765 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:125930765C>T uc003ktx.2 - 1 318 c.126G>A c.(124-126)CTG>CTA p.L42L ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Silent_p.L69L|ALDH7A1_uc003ktz.2_Silent_p.L69L NM_001182 NP_001173 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 42 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity kidney(2)|ovary(1) 3 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) CCAGCTCTTTCAGCCACGCAT 0.612 4 9 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127638692 127638692 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:127638692C>G uc003kuu.2 - 46 6329 c.5890G>C c.(5890-5892)GAA>CAA p.E1964Q NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1964 EGF-like 32; calcium-binding. 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) TGAGTGAGTTCAAACCCTGGG 0.378 25 110 --- --- --- --- PASS IRF1 3659 broad.mit.edu 37 5 131822653 131822653 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:131822653C>G uc003kxa.2 - 4 591 c.357G>C c.(355-357)CAG>CAC p.Q119H IRF1_uc003kxd.2_RNA|IRF1_uc003kxb.2_Missense_Mutation_p.Q119H|IRF1_uc010jdt.1_Missense_Mutation_p.Q119H NM_002198 NP_002189 P10914 IRF1_HUMAN interferon regulatory factor 1 119 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm 0 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) TACCTTTTCTCTGGTTCTTGG 0.582 38 120 --- --- --- --- PASS PPP2CA 5515 broad.mit.edu 37 5 133534875 133534875 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:133534875G>A uc003kze.2 - 6 1157 c.759C>T c.(757-759)GAC>GAT p.D253D NM_002715 NP_002706 P67775 PP2AA_HUMAN protein phosphatase 2, catalytic subunit, alpha 253 ceramide metabolic process|inactivation of MAPK activity|induction of apoptosis|meiosis|negative regulation of cell growth|negative regulation of epithelial to mesenchymal transition|negative regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of protein serine/threonine kinase activity|protein dephosphorylation|regulation of cell adhesion|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction|spindle pole metal ion binding|phosphoprotein phosphatase activity ovary(2)|lung(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Vitamin E(DB00163) CTACATTCCGGTCATGGCACC 0.368 20 50 --- --- --- --- PASS TGFBI 7045 broad.mit.edu 37 5 135388806 135388806 + Nonsense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:135388806C>G uc003lbf.3 + 8 1285 c.1124C>G c.(1123-1125)TCA>TGA p.S375* TGFBI_uc003lbg.3_Nonsense_Mutation_p.S108*|TGFBI_uc003lbh.3_Nonsense_Mutation_p.S201*|TGFBI_uc011cyb.1_Nonsense_Mutation_p.S201*|TGFBI_uc010jed.2_Nonsense_Mutation_p.S108* NM_000358 NP_000349 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 375 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(3)|ovary(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATCCCAGACTCAGGTAGGCCA 0.567 6 29 --- --- --- --- PASS SPOCK1 6695 broad.mit.edu 37 5 136328224 136328224 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:136328224C>T uc003lbo.2 - 6 846 c.655G>A c.(655-657)GAG>AAG p.E219K SPOCK1_uc003lbp.2_Missense_Mutation_p.E219K NM_004598 NP_004589 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains 219 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTCGCATCCTCGTGGAGAGCT 0.478 23 63 --- --- --- --- PASS UBE2D2 7322 broad.mit.edu 37 5 138994186 138994186 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:138994186C>T uc003ler.2 + 3 730 c.104C>T c.(103-105)GCT>GTT p.A35V UBE2D2_uc003leq.2_Missense_Mutation_p.A6V NM_003339 NP_003330 P62837 UB2D2_HUMAN ubiquitin-conjugating enzyme E2D 2 isoform 1 35 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process ATP binding|protein binding|ubiquitin-protein ligase activity central_nervous_system(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CATTGGCAAGCTACAATAATG 0.313 18 80 --- --- --- --- PASS PCDHGB6 56100 broad.mit.edu 37 5 140788511 140788511 + Nonsense_Mutation SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:140788511A>T uc003lkj.1 + 1 742 c.742A>T c.(742-744)AGA>TGA p.R248* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Nonsense_Mutation_p.R248* NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 248 Extracellular (Potential).|Cadherin 3. 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) AGACGAATATAGAATTAGTCT 0.493 4 20 --- --- --- --- PASS DIAPH1 1729 broad.mit.edu 37 5 140958124 140958124 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:140958124G>A uc003llb.3 - 10 1143 c.1002C>T c.(1000-1002)ATC>ATT p.I334I DIAPH1_uc003llc.3_Silent_p.I325I NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 334 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCACTTCTGATGTGAACTC 0.448 36 118 --- --- --- --- PASS JAKMIP2 9832 broad.mit.edu 37 5 147051264 147051264 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:147051264C>G uc003loq.1 - 2 488 c.106G>C c.(106-108)GAG>CAG p.E36Q JAKMIP2_uc011dbx.1_Intron|JAKMIP2_uc003lor.1_Missense_Mutation_p.E36Q|JAKMIP2_uc010jgo.1_Missense_Mutation_p.E36Q NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 36 Potential. Golgi apparatus large_intestine(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATGCAGCTCTATCTGAATG 0.547 14 32 --- --- --- --- PASS SLC36A2 153201 broad.mit.edu 37 5 150726878 150726878 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:150726878C>T uc003lty.2 - 1 274 c.144G>A c.(142-144)TTG>TTA p.L48L GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Silent_p.L48L|SLC36A2_uc011dct.1_Silent_p.L48L NM_181776 NP_861441 Q495M3 S36A2_HUMAN solute carrier family 36, member 2 48 Cytoplasmic (Potential). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGTCTTCTTCAAGCCTGCTG 0.473 42 154 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150907667 150907667 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:150907667G>T uc003lue.3 - 15 10067 c.10054C>A c.(10054-10056)CTA>ATA p.L3352I GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.L45I NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3352 Cadherin 30.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCACTATTTAGGGGTCCATCT 0.542 17 86 --- --- --- --- PASS IL12B 3593 broad.mit.edu 37 5 158747368 158747368 + Missense_Mutation SNP C A A rs79446920 by1000genomes TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:158747368C>A uc003lxr.1 - 5 685 c.643G>T c.(643-645)GTT>TTT p.V215F NM_002187 NP_002178 P29460 IL12B_HUMAN interleukin 12B precursor 215 cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCTTGTGAACGGCATCCACC 0.473 25 102 --- --- --- --- PASS C5orf41 153222 broad.mit.edu 37 5 172513617 172513617 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:172513617C>T uc003mch.2 + 3 427 c.123C>T c.(121-123)TTC>TTT p.F41F C5orf41_uc003mcg.2_Silent_p.F41F|C5orf41_uc003mcf.2_Silent_p.F41F|C5orf41_uc011dfd.1_Silent_p.F41F NM_153607 NP_705835 Q8IUR6 CE041_HUMAN luman-recruiting factor 41 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATCCAGATTTCATGTATGAAC 0.403 25 96 --- --- --- --- PASS DDX41 51428 broad.mit.edu 37 5 176943821 176943821 + Nonsense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:176943821C>A uc003mho.2 - 2 64 c.43G>T c.(43-45)GAG>TAG p.E15* DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_5'UTR|DDX41_uc003mhp.2_5'UTR|DDX41_uc003mhq.1_5'UTR NM_016222 NP_057306 Q9UJV9 DDX41_HUMAN DEAD-box protein abstrakt 15 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) GCAGGCACCTCGTCGGTGCGA 0.687 9 25 --- --- --- --- PASS MGAT1 4245 broad.mit.edu 37 5 180219415 180219415 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr5:180219415G>A uc003mmg.3 - 2 1052 c.557C>T c.(556-558)GCG>GTG p.A186V MGAT1_uc010jlf.2_Missense_Mutation_p.A186V|MGAT1_uc010jlg.2_Missense_Mutation_p.A186V|MGAT1_uc003mmh.3_Missense_Mutation_p.A186V|MGAT1_uc010jlh.2_Missense_Mutation_p.A186V|MGAT1_uc003mmi.3_Missense_Mutation_p.A186V NM_002406 NP_002397 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein 186 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(1) 1 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTAGTGGCGCGCGATCTTGTA 0.687 20 46 --- --- --- --- PASS IRF4 3662 broad.mit.edu 37 6 401436 401436 + Missense_Mutation SNP A C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:401436A>C uc003msz.3 + 7 871 c.758A>C c.(757-759)CAC>CCC p.H253P IRF4_uc010jne.1_Missense_Mutation_p.H253P|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.H252P|IRF4_uc003mtc.1_Missense_Mutation_p.H83P NM_002460 NP_002451 Q15306 IRF4_HUMAN interferon regulatory factor 4 253 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) TGCCGGCTGCACATCTGCCTG 0.607 T IGH@ MM 13 27 --- --- --- --- PASS ERVFRDE1 405754 broad.mit.edu 37 6 11105243 11105243 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:11105243G>T uc003mzt.2 - 2 671 c.301C>A c.(301-303)CCT>ACT p.P101T LOC221710_uc003mzr.2_Intron|LOC221710_uc011dio.1_Intron NM_207582 NP_997465 P60508 EFRD1_HUMAN syncytin 2 101 Extracellular (Potential). integral to membrane|plasma membrane|virion 0 CGGATATCAGGGAAATCTTGC 0.418 26 135 --- --- --- --- PASS NEDD9 4739 broad.mit.edu 37 6 11185539 11185539 + Silent SNP G C C rs145403433 TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:11185539G>C uc003mzv.2 - 7 2528 c.2361C>G c.(2359-2361)CTC>CTG p.L787L NEDD9_uc010joz.2_Silent_p.L787L|NEDD9_uc003mzw.3_Silent_p.L641L NM_006403 NP_006394 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally 787 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding 0 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) CTATGGTCTTGAGCTGCTCGC 0.542 64 120 --- --- --- --- PASS HIVEP1 3096 broad.mit.edu 37 6 12124483 12124483 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:12124483G>A uc003nac.2 + 4 4634 c.4455G>A c.(4453-4455)CAG>CAA p.Q1485Q HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1485 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TGCACTCTCAGACTCAGGTTA 0.423 12 78 --- --- --- --- PASS HIST1H2BF 8343 broad.mit.edu 37 6 26199929 26199929 + Missense_Mutation SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:26199929A>T uc003ngx.2 + 1 143 c.143A>T c.(142-144)CAG>CTG p.Q48L HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank NM_003522 NP_003513 P62807 H2B1C_HUMAN histone cluster 1, H2bf 48 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 all_hematologic(11;0.196) GTGCTAAAGCAGGTCCACCCC 0.567 46 257 --- --- --- --- PASS AGPAT1 10554 broad.mit.edu 37 6 32138256 32138256 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:32138256C>T uc003oae.2 - 4 774 c.456G>A c.(454-456)ACG>ACA p.T152T PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Silent_p.T116T|AGPAT1_uc003oaf.2_Silent_p.T152T|AGPAT1_uc003oag.2_Intron|AGPAT1_uc003oah.2_Silent_p.T152T|AGPAT1_uc003oai.1_Silent_p.T152T|AGPAT1_uc011dpl.1_Silent_p.T40T NM_006411 NP_006402 Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 152 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1) 1 TGGCATCCCCCGTGCGCTTCC 0.627 36 65 --- --- --- --- PASS UHRF1BP1 54887 broad.mit.edu 37 6 34835144 34835144 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:34835144C>T uc003oju.3 + 16 3789 c.3555C>T c.(3553-3555)CTC>CTT p.L1185L UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 1185 ovary(3) 3 GAGAAGACCTCATCTTTCACC 0.493 24 138 --- --- --- --- PASS PNPLA1 285848 broad.mit.edu 37 6 36260877 36260877 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:36260877C>T uc010jwf.2 + 3 478 c.478C>T c.(478-480)CTC>TTC p.L160F PNPLA1_uc003olw.1_Missense_Mutation_p.L65F|PNPLA1_uc010jwe.1_Missense_Mutation_p.L65F NM_001145717 NP_001139189 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 160 Patatin. lipid catabolic process hydrolase activity large_intestine(1)|pancreas(1)|breast(1)|skin(1) 4 GTACTGTGGCCTCATCCCCCC 0.652 57 80 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38813505 38813505 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:38813505G>C uc003ooe.1 + 34 4950 c.4350G>C c.(4348-4350)TTG>TTC p.L1450F NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTATCACTTTGATGGAGGATA 0.363 34 62 --- --- --- --- PASS FOXP4 116113 broad.mit.edu 37 6 41545800 41545800 + Missense_Mutation SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:41545800A>T uc003oql.2 + 3 739 c.281A>T c.(280-282)CAG>CTG p.Q94L FOXP4_uc003oqm.2_Missense_Mutation_p.Q94L|FOXP4_uc003oqn.2_Missense_Mutation_p.Q94L NM_001012426 NP_001012426 Q8IVH2 FOXP4_HUMAN forkhead box P4 isoform 1 94 Gln-rich. embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) GACAGCAAACAGTCTGCCTCT 0.642 10 18 --- --- --- --- PASS PTK7 5754 broad.mit.edu 37 6 43114398 43114398 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:43114398G>A uc003oub.1 + 17 2881 c.2683G>A c.(2683-2685)GAA>AAA p.E895K PTK7_uc003ouc.1_Missense_Mutation_p.E839K|PTK7_uc003oud.1_Missense_Mutation_p.E855K|PTK7_uc003oue.1_Missense_Mutation_p.E765K|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.E903K|PTK7_uc010jyj.1_Missense_Mutation_p.E221K NM_002821 NP_002812 Q13308 PTK7_HUMAN PTK7 protein tyrosine kinase 7 isoform a 895 Cytoplasmic (Potential).|Protein kinase; inactive.|Interaction with CTNNB1. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ovary(2)|large_intestine(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GAGCAAGGATGAAAAATTGAA 0.552 16 85 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51889423 51889423 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:51889423C>A uc003pah.1 - 32 5461 c.5185G>T c.(5185-5187)GCC>TCC p.A1729S PKHD1_uc003pai.2_Missense_Mutation_p.A1729S NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1729 IPT/TIG 12; atypical.|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) AACACCAGGGCAGATGAGGCC 0.502 54 115 --- --- --- --- PASS C6orf142 90523 broad.mit.edu 37 6 54025350 54025350 + Nonsense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:54025350G>T uc003pcg.3 + 6 900 c.787G>T c.(787-789)GAG>TAG p.E263* C6orf142_uc003pcf.2_Nonsense_Mutation_p.E787*|C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Nonsense_Mutation_p.E798* NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN hypothetical protein LOC90523 263 nuclear envelope|PML body protein binding 0 Lung NSC(77;0.0317) GCAAACTGAAGAGCTCTGTGC 0.408 14 55 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56374593 56374593 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:56374593C>A uc003pdf.2 - 68 12530 c.12502G>T c.(12502-12504)GCA>TCA p.A4168S DST_uc003pcz.3_Missense_Mutation_p.A3990S|DST_uc011dxj.1_Missense_Mutation_p.A4019S|DST_uc011dxk.1_Missense_Mutation_p.A4030S|DST_uc003pcy.3_Missense_Mutation_p.A3664S NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6076 Spectrin 12. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCAACCTCTGCAGAGATAGAG 0.458 30 46 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56382353 56382353 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:56382353C>A uc003pdf.2 - 64 11866 c.11838G>T c.(11836-11838)CTG>CTT p.L3946L DST_uc003pcz.3_Silent_p.L3768L|DST_uc011dxj.1_Silent_p.L3797L|DST_uc011dxk.1_Silent_p.L3808L|DST_uc003pcy.3_Silent_p.L3442L NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 5854 Spectrin 10. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGATGTCACCCAGAGACATCA 0.383 5 35 --- --- --- --- PASS PHIP 55023 broad.mit.edu 37 6 79650830 79650830 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:79650830G>C uc003pir.2 - 40 5272 c.5046C>G c.(5044-5046)ATC>ATG p.I1682M PHIP_uc003piq.2_Missense_Mutation_p.I706M|PHIP_uc011dyp.1_Missense_Mutation_p.I1681M|IRAK1BP1_uc010kbg.1_Intron|PHIP_uc003pio.3_Missense_Mutation_p.I568M NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1682 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CTTCATCTCTGATGGGATGCA 0.363 23 134 --- --- --- --- PASS UBE2CBP 90025 broad.mit.edu 37 6 83732255 83732255 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:83732255C>T uc003pjp.2 - 7 871 c.763G>A c.(763-765)GCC>ACC p.A255T UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjq.2_Missense_Mutation_p.A45T NM_198920 NP_944602 Q7Z6J8 UB2CB_HUMAN ubiquitin-conjugating enzyme E2C binding 255 Interaction with UBE2C. cytoplasm ligase activity ovary(1) 1 all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548) BRCA - Breast invasive adenocarcinoma(397;0.0944) AGACACTGGGCGATCACGCTC 0.373 6 31 --- --- --- --- PASS REV3L 5980 broad.mit.edu 37 6 111634624 111634624 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:111634624C>T uc003puy.3 - 28 8858 c.8535G>A c.(8533-8535)CAG>CAA p.Q2845Q REV3L_uc003pux.3_Silent_p.Q2767Q|REV3L_uc003puz.3_Silent_p.Q2767Q|REV3L_uc003pva.1_RNA NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 2845 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTGGGTCCTTCTGATCCAGTG 0.358 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 18 53 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112452258 112452258 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:112452258C>A uc003pvu.2 - 29 4189 c.3880G>T c.(3880-3882)GAT>TAT p.D1294Y LAMA4_uc003pvv.2_Missense_Mutation_p.D1287Y|LAMA4_uc003pvt.2_Missense_Mutation_p.D1287Y NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1294 Laminin G-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CCCTTTACATCCATGATGACA 0.458 30 62 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112452259 112452259 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:112452259C>A uc003pvu.2 - 29 4188 c.3879G>T c.(3877-3879)ATG>ATT p.M1293I LAMA4_uc003pvv.2_Missense_Mutation_p.M1286I|LAMA4_uc003pvt.2_Missense_Mutation_p.M1286I NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1293 Laminin G-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding p.M1286I(1) ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CCTTTACATCCATGATGACAG 0.453 30 63 --- --- --- --- PASS PKIB 5570 broad.mit.edu 37 6 123046281 123046281 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:123046281G>C uc003pyz.2 + 7 639 c.178G>C c.(178-180)GAG>CAG p.E60Q PKIB_uc003pza.2_Missense_Mutation_p.E60Q|PKIB_uc003pzb.2_Missense_Mutation_p.E60Q|PKIB_uc003pzc.2_Missense_Mutation_p.E67Q|PKIB_uc011ebq.1_Missense_Mutation_p.E60Q NM_181794 NP_861459 Q9C010 IPKB_HUMAN cAMP-dependent protein kinase inhibitor beta 60 cAMP-dependent protein kinase inhibitor activity 0 GBM - Glioblastoma multiforme(226;0.164) AGATGCAAAAGAGAAAGATGA 0.299 9 31 --- --- --- --- PASS TMEM200A 114801 broad.mit.edu 37 6 130762297 130762297 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:130762297C>A uc003qca.2 + 3 1601 c.730C>A c.(730-732)CCC>ACC p.P244T TMEM200A_uc010kfh.2_Missense_Mutation_p.P244T|TMEM200A_uc010kfi.2_Missense_Mutation_p.P244T|TMEM200A_uc003qcb.2_Missense_Mutation_p.P244T NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 244 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GCATCTTATGCCCCCTTTGCT 0.483 32 55 --- --- --- --- PASS PLEKHG1 57480 broad.mit.edu 37 6 151121854 151121854 + Splice_Site SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:151121854G>A uc003qny.1 + 7 942 c.630_splice c.e7-1 p.R210_splice PLEKHG1_uc011eel.1_Splice_Site_p.R250_splice|PLEKHG1_uc011eem.1_Splice_Site_p.R269_splice|PLEKHG1_uc003qnz.2_Splice_Site_p.R210_splice NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) TCTTCCTGCAGGTCCGTGGCT 0.433 22 63 --- --- --- --- PASS MTRF1L 54516 broad.mit.edu 37 6 153311084 153311084 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:153311084C>T uc003qpi.3 - 7 1194 c.1089G>A c.(1087-1089)TTG>TTA p.L363L MTRF1L_uc003qpl.3_3'UTR|MTRF1L_uc011efa.1_Silent_p.L327L|MTRF1L_uc003qpj.3_Silent_p.L221L|MTRF1L_uc003qpk.3_3'UTR NM_019041 NP_061914 Q9UGC7 RF1ML_HUMAN mitochondrial translational release factor 363 mitochondrion translation release factor activity, codon specific 0 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888) CGTATTCCTTCAATGACTGTA 0.333 33 133 --- --- --- --- PASS MAS1 4142 broad.mit.edu 37 6 160328255 160328255 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:160328255G>T uc003qsz.2 + 1 282 c.268G>T c.(268-270)GAC>TAC p.D90Y NM_002377 NP_002368 P04201 MAS_HUMAN MAS1 oncogene 90 Extracellular (Potential). anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity ovary(2)|lung(2) 4 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) CTTGTCTATCGACTATGCTTT 0.433 44 159 --- --- --- --- PASS QKI 9444 broad.mit.edu 37 6 163899889 163899889 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:163899889C>T uc003qui.2 + 3 914 c.363C>T c.(361-363)ATC>ATT p.I121I QKI_uc003que.2_Silent_p.I121I|QKI_uc003quf.2_Silent_p.I121I|QKI_uc003qug.2_Silent_p.I121I|QKI_uc003quh.2_Silent_p.I121I|QKI_uc003quj.2_Silent_p.I121I NM_006775 NP_006766 Q96PU8 QKI_HUMAN quaking homolog, KH domain RNA binding isoform 121 KH. mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding large_intestine(1)|ovary(1) 2 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) GATGTAAAATCATGGTCCGAG 0.363 24 92 --- --- --- --- PASS C6orf118 168090 broad.mit.edu 37 6 165715275 165715275 + Missense_Mutation SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:165715275A>T uc003qum.3 - 2 572 c.536T>A c.(535-537)CTG>CAG p.L179Q C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 179 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CAAGTCGGGCAGCCGGAGTTC 0.642 6 41 --- --- --- --- PASS TTLL2 83887 broad.mit.edu 37 6 167753644 167753644 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:167753644C>A uc003qvs.1 + 3 344 c.256C>A c.(256-258)CCG>ACG p.P86T TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 86 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CCTCTTGAAGCCGCTGGTTTT 0.507 17 53 --- --- --- --- PASS DLL1 28514 broad.mit.edu 37 6 170594017 170594017 + Silent SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr6:170594017G>T uc003qxm.2 - 8 1709 c.1239C>A c.(1237-1239)CCC>CCA p.P413P NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 413 Extracellular (Potential).|EGF-like 6. cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) CATTAGAACAGGGTGAAGAGC 0.547 13 47 --- --- --- --- PASS CARD11 84433 broad.mit.edu 37 7 2946460 2946460 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:2946460G>T uc003smv.2 - 25 3681 c.3277C>A c.(3277-3279)CCT>ACT p.P1093T NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1093 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCCGTCTCAGGTCGGGGCAGC 0.682 Mis DLBCL 7 18 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18869172 18869172 + Splice_Site SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:18869172G>T uc003suh.2 + 18 2498 c.2457_splice c.e18+1 p.L819_splice HDAC9_uc003sue.2_Splice_Site_p.L819_splice|HDAC9_uc011jyd.1_Splice_Site_p.L819_splice|HDAC9_uc003sui.2_Splice_Site_p.L822_splice|HDAC9_uc003suj.2_Splice_Site_p.L778_splice|HDAC9_uc003suk.2_Splice_Site_p.L67_splice NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 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) TGTAGATCTGGTATGTATTCC 0.388 22 48 --- --- --- --- PASS ITGB8 3696 broad.mit.edu 37 7 20441706 20441706 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:20441706G>T uc003suu.2 + 10 2349 c.1644G>T c.(1642-1644)AAG>AAT p.K548N ITGB8_uc011jyh.1_Missense_Mutation_p.K413N NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 548 Cysteine-rich tandem repeats.|II.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 ACTGTGAAAAGGATGACTTTT 0.388 33 70 --- --- --- --- PASS ITGB8 3696 broad.mit.edu 37 7 20441707 20441707 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:20441707G>T uc003suu.2 + 10 2350 c.1645G>T c.(1645-1647)GAT>TAT p.D549Y ITGB8_uc011jyh.1_Missense_Mutation_p.D414Y NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 549 Cysteine-rich tandem repeats.|II.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 CTGTGAAAAGGATGACTTTTC 0.388 34 70 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21765525 21765525 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:21765525G>A uc003svc.2 + 46 7415 c.7384G>A c.(7384-7386)GAC>AAC p.D2462N NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2462 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TTATTATGTGGACCACAAAAC 0.423 Kartagener_syndrome 4 14 --- --- --- --- PASS HOXA2 3199 broad.mit.edu 37 7 27142065 27142065 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:27142065C>A uc003syh.2 - 1 330 c.55G>T c.(55-57)GCT>TCT p.A19S NM_006735 NP_006726 O43364 HXA2_HUMAN homeobox A2 19 nucleus sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 AGGCACTCAGCGAGCGACGGC 0.478 17 152 --- --- --- --- PASS AVL9 23080 broad.mit.edu 37 7 32598723 32598723 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:32598723G>C uc003tcv.1 + 10 1008 c.862G>C c.(862-864)GAT>CAT p.D288H AVL9_uc011kai.1_Missense_Mutation_p.D288H|AVL9_uc010kwj.1_Missense_Mutation_p.D129H NM_015060 NP_055875 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 288 integral to membrane 0 CCATGGAGAAGATGCTGCCAT 0.453 15 22 --- --- --- --- PASS KBTBD2 25948 broad.mit.edu 37 7 32909154 32909154 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:32909154C>G uc003tdb.2 - 4 2334 c.1675G>C c.(1675-1677)GAC>CAC p.D559H AVL9_uc011kai.1_Intron NM_015483 NP_056298 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 559 Kelch 5. 0 GBM - Glioblastoma multiforme(11;0.0499) GACCACCGGTCAAGTTCCAGG 0.463 48 105 --- --- --- --- PASS KIAA0895 23366 broad.mit.edu 37 7 36396527 36396527 + Missense_Mutation SNP T A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:36396527T>A uc003tfd.2 - 3 902 c.851A>T c.(850-852)GAC>GTC p.D284V KIAA0895_uc003tfc.2_Missense_Mutation_p.D271V|KIAA0895_uc011kaw.1_Missense_Mutation_p.D133V|KIAA0895_uc003tfb.2_Missense_Mutation_p.D233V|KIAA0895_uc011kax.1_Missense_Mutation_p.D233V|KIAA0895_uc003tfe.2_Missense_Mutation_p.D271V|KIAA0895_uc011kay.1_Missense_Mutation_p.D233V NM_001100425 NP_001093895 Q8NCT3 K0895_HUMAN hypothetical protein LOC23366 isoform 1 284 0 AAGAAATCGGTCAGATGCGTG 0.358 12 51 --- --- --- --- PASS GLI3 2737 broad.mit.edu 37 7 42005006 42005006 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:42005006G>C uc011kbh.1 - 15 3756 c.3665C>G c.(3664-3666)CCC>CGC p.P1222R GLI3_uc011kbg.1_Missense_Mutation_p.P1163R NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1222 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GCCACCGTAGGGGTTGCTGTT 0.637 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 11 79 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48411966 48411966 + Missense_Mutation SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:48411966A>T uc003toq.2 + 33 11030 c.11005A>T c.(11005-11007)AGT>TGT p.S3669C ABCA13_uc010kys.1_Missense_Mutation_p.S743C|ABCA13_uc003tos.1_Missense_Mutation_p.S495C NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3669 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTACCTCTTGAGTGCATTTTT 0.433 53 235 --- --- --- --- PASS DMTF1 9988 broad.mit.edu 37 7 86823350 86823350 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:86823350G>A uc003uih.2 + 16 2286 c.1960G>A c.(1960-1962)GAA>AAA p.E654K DMTF1_uc003uii.2_Missense_Mutation_p.E388K|DMTF1_uc003uij.2_Missense_Mutation_p.E388K|DMTF1_uc011khb.1_Missense_Mutation_p.E566K|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.E654K|DMTF1_uc003uin.2_Missense_Mutation_p.E388K NM_001142327 NP_001135799 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 654 Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(14;0.0058) AACAGAAGAAGAAATCTCTGA 0.388 19 89 --- --- --- --- PASS FZD1 8321 broad.mit.edu 37 7 90895882 90895882 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:90895882G>T uc003ula.2 + 1 2100 c.1687G>T c.(1687-1689)GAC>TAC p.D563Y NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 563 Extracellular (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) GGCCTTCCGGGACCAGTGGGA 0.662 15 51 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100680261 100680261 + Missense_Mutation SNP C A A rs141195508 byFrequency TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:100680261C>A uc003uxp.1 + 3 5617 c.5564C>A c.(5563-5565)ACC>AAC p.T1855N MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1855 Extracellular (Potential).|Ser-rich.|29.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GCTGAAGGTACCAGCATAGCA 0.478 55 240 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113519333 113519333 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:113519333C>A uc010ljy.1 - 4 1845 c.1814G>T c.(1813-1815)AGT>ATT p.S605I NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 605 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 GCTGCCTTCACTAGTCAAATG 0.418 23 141 --- --- --- --- PASS AASS 10157 broad.mit.edu 37 7 121738539 121738539 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:121738539C>A uc003vka.2 - 14 1716 c.1620G>T c.(1618-1620)CTG>CTT p.L540L AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.L540L|AASS_uc011knw.1_Silent_p.L28L NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 540 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) CCAAGAAGCCCAGCTTCTCTT 0.338 25 42 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138579246 138579246 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:138579246G>A uc011kql.1 - 10 3923 c.3874C>T c.(3874-3876)CCG>TCG p.P1292S KIAA1549_uc011kqi.1_Missense_Mutation_p.P76S|KIAA1549_uc003vuk.3_Missense_Mutation_p.P1242S|KIAA1549_uc011kqj.1_Missense_Mutation_p.P1292S|KIAA1549_uc011kqk.1_Missense_Mutation_p.P76S NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1292 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 TGGGATTCCGGAGACGGCCTC 0.493 O BRAF pilocytic astrocytoma 17 66 --- --- --- --- PASS TBXAS1 6916 broad.mit.edu 37 7 139529251 139529251 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:139529251C>T uc011kqv.1 + 1 229 c.65C>T c.(64-66)TCA>TTA p.S22L TBXAS1_uc003vvh.2_Missense_Mutation_p.S22L|TBXAS1_uc010lne.2_Intron|TBXAS1_uc011kqu.1_Missense_Mutation_p.S22L|TBXAS1_uc003vvi.2_Missense_Mutation_p.S22L|TBXAS1_uc003vvj.2_Missense_Mutation_p.S22L|TBXAS1_uc011kqw.1_5'UTR|TBXAS1_uc011kqx.1_Missense_Mutation_p.S22L NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 21 Helical; (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) GTGGCCCTGTCAGTGGCTCTC 0.577 10 36 --- --- --- --- PASS BRAF 673 broad.mit.edu 37 7 140481411 140481411 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:140481411C>A uc003vwc.3 - 11 1458 c.1397G>T c.(1396-1398)GGA>GTA p.G466V NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 466 ATP (By similarity).|Protein kinase. G -> V (in LNCR).|G -> A (in melanoma).|G -> E (in melanoma). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.G466V(12)|p.G466E(5)|p.G466A(3)|p.G466R(2) KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) TCCAAATGATCCAGATCCAAT 0.378 G466V(NCIH1666_LUNG)|G466V(CAL12T_LUNG) 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 31 80 --- --- --- --- PASS OR9A4 130075 broad.mit.edu 37 7 141618739 141618739 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:141618739C>A uc003vwu.1 + 1 64 c.64C>A c.(64-66)CTA>ATA p.L22I NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.0171) CTCTGAAGAACTACATCATAT 0.378 71 169 --- --- --- --- PASS CLCN1 1180 broad.mit.edu 37 7 143039210 143039210 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:143039210C>G uc003wcr.1 + 15 1858 c.1771C>G c.(1771-1773)CCT>GCT p.P591A CLCN1_uc011ktc.1_Missense_Mutation_p.P203A NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 591 Cytoplasmic (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) ACCCTACTTGCCTGACCTTGG 0.552 12 74 --- --- --- --- PASS ARHGEF5 7984 broad.mit.edu 37 7 144060783 144060783 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:144060783C>G uc003wel.2 + 2 1139 c.1021C>G c.(1021-1023)CAG>GAG p.Q341E ARHGEF5_uc003wek.2_Missense_Mutation_p.Q341E NM_005435 NP_005426 Q12774 ARHG5_HUMAN rho guanine nucleotide exchange factor 5 341 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity skin(2) 2 Melanoma(164;0.14) GGCGGACTCTCAGGACGAAAA 0.517 50 71 --- --- --- --- PASS EZH2 2146 broad.mit.edu 37 7 148515176 148515176 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:148515176C>T uc003wfd.1 - 10 1184 c.1018G>A c.(1018-1020)GCT>ACT p.A340T EZH2_uc011kug.1_Missense_Mutation_p.A331T|EZH2_uc003wfb.1_Missense_Mutation_p.A345T|EZH2_uc003wfc.1_Missense_Mutation_p.A301T|EZH2_uc011kuh.1_Missense_Mutation_p.A331T|EZH2_uc011kui.1_Missense_Mutation_p.A340T|EZH2_uc011kuj.1_RNA NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 340 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding p.A345T(1) haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) ATCCGCTCAGCGGTGAGAGCA 0.488 Mis DLBCL 4 161 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149502658 149502658 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:149502658C>T uc010lpk.2 + 58 8471 c.8471C>T c.(8470-8472)CCC>CTC p.P2824L NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2824 TSP type-1 7. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCTGCAGCCCCCCTGTATGC 0.667 9 44 --- --- --- --- PASS GIMAP1 170575 broad.mit.edu 37 7 150417443 150417443 + Silent SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:150417443G>T uc003whq.2 + 3 438 c.351G>T c.(349-351)CTG>CTT p.L117L GIMAP1_uc003whp.2_Silent_p.L125L NM_130759 NP_570115 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 117 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane GTP binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCTGCTCCTGGTGACCCAGT 0.617 15 52 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151932935 151932935 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:151932935C>T uc003wla.2 - 16 2955 c.2736G>A c.(2734-2736)CTG>CTA p.L912L MLL3_uc003wkz.2_5'UTR NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 912 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTCCACTTTTCAGCTTTGACC 0.488 N medulloblastoma 19 94 --- --- --- --- PASS HTR5A 3361 broad.mit.edu 37 7 154862998 154862998 + Nonsense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr7:154862998G>A uc003wlu.1 + 1 453 c.389G>A c.(388-390)TGG>TAG p.W130* uc011kvt.1_Nonsense_Mutation_p.Q6*|uc003wlt.2_Nonsense_Mutation_p.Q6* NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 130 Helical; Name=3; (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) GCCAGCATCTGGAACGTGACG 0.647 11 41 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2815331 2815331 + Splice_Site SNP T A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:2815331T>A uc011kwk.1 - 63 10096 c.9706_splice c.e63-1 p.V3236_splice CSMD1_uc011kwj.1_Splice_Site_p.V2565_splice|CSMD1_uc010lrg.2_Splice_Site_p.V1127_splice NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCTTCCAACCTAGAGAGGAAA 0.458 5 4 --- --- --- --- PASS PRSS55 203074 broad.mit.edu 37 8 10383125 10383125 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:10383125G>A uc003wta.2 + 1 45 c.30G>A c.(28-30)CTG>CTA p.L10L uc010lru.2_Intron NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN hypothetical protein LOC203074 precursor 10 proteolysis integral to membrane serine-type endopeptidase activity ovary(1) 1 TGCTGCTCCTGTCCCTGGTCA 0.672 15 65 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10468421 10468421 + Nonsense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:10468421C>A uc003wtc.2 - 4 3416 c.3187G>T c.(3187-3189)GAG>TAG p.E1063* NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1063 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GCTGGGGCCTCTCTGTCTGCT 0.677 9 10 --- --- --- --- PASS KIAA1967 57805 broad.mit.edu 37 8 22465539 22465539 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:22465539C>A uc003xch.2 + 7 682 c.545C>A c.(544-546)CCT>CAT p.P182H KIAA1967_uc003xci.2_Missense_Mutation_p.P182H|KIAA1967_uc003xcj.1_Translation_Start_Site NM_199205 NP_954675 Q8N163 K1967_HUMAN p30 DBC protein 182 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) AACAGATTTCCTGCCCGGGGC 0.448 5 242 --- --- --- --- PASS KCTD9 54793 broad.mit.edu 37 8 25303650 25303650 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:25303650C>G uc003xeo.2 - 2 323 c.165G>C c.(163-165)TTG>TTC p.L55F PPP2R2A_uc003xek.2_Intron NM_017634 NP_060104 Q7L273 KCTD9_HUMAN potassium channel tetramerisation domain 55 KHA. voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) GTTACCTGATCAAAGCAATAT 0.403 12 44 --- --- --- --- PASS KCTD9 54793 broad.mit.edu 37 8 25303661 25303661 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:25303661C>T uc003xeo.2 - 2 312 c.154G>A c.(154-156)GAT>AAT p.D52N PPP2R2A_uc003xek.2_Intron NM_017634 NP_060104 Q7L273 KCTD9_HUMAN potassium channel tetramerisation domain 52 KHA. voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) AAAGCAATATCATCAATCAGT 0.403 11 53 --- --- --- --- PASS HMBOX1 79618 broad.mit.edu 37 8 28827693 28827693 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:28827693C>G uc003xhd.3 + 3 499 c.157C>G c.(157-159)CTT>GTT p.L53V HMBOX1_uc010lvd.2_Missense_Mutation_p.L53V|HMBOX1_uc003xhc.3_Missense_Mutation_p.L53V|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.L53V|HMBOX1_uc011lay.1_Missense_Mutation_p.L53V|HMBOX1_uc003xhf.2_Missense_Mutation_p.L41V|HMBOX1_uc003xhg.2_Missense_Mutation_p.L41V NM_001135726 NP_001129198 Q6NT76 HMBX1_HUMAN homeobox containing 1 53 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) TTTGGACCGTCTTGATCAAGA 0.443 36 103 --- --- --- --- PASS WRN 7486 broad.mit.edu 37 8 30921849 30921849 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:30921849G>T uc003xio.3 + 4 1042 c.254G>T c.(253-255)TGG>TTG p.W85L NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 85 Interaction with WRNIP1 (By similarity).|3'-5' exonuclease. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) GACATGGAGTGGCCACCATTA 0.328 Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 54 114 --- --- --- --- PASS IDO2 169355 broad.mit.edu 37 8 39806779 39806779 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:39806779C>G uc010lwy.1 + 2 376 c.134C>G c.(133-135)TCT>TGT p.S45C IDO2_uc003xno.1_RNA NM_194294 NP_919270 Q6ZQW0 I23O2_HUMAN indoleamine-pyrrole 2,3 dioxygenase-like 1 32 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity ovary(2) 2 CTTCCAGATTCTCTGGTAAGG 0.383 8 13 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52384806 52384806 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:52384806G>A uc003xqu.3 - 8 854 c.753C>T c.(751-753)GTC>GTT p.V251V NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 251 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AGGTGAAGTAGACGGTATTTC 0.438 50 176 --- --- --- --- PASS CYP7A1 1581 broad.mit.edu 37 8 59410849 59410849 + Missense_Mutation SNP T A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:59410849T>A uc003xtm.3 - 2 323 c.260A>T c.(259-261)AAG>ATG p.K87M NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 87 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) GCACAACACCTTATGGTATGA 0.353 Neonatal_Giant_Cell_Hepatitis 82 86 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69021791 69021791 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:69021791C>G uc003xxv.1 + 25 3106 c.3079C>G c.(3079-3081)CAG>GAG p.Q1027E PREX2_uc011lez.1_Missense_Mutation_p.Q962E NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1027 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 AGACATCTATCAGAAACTGCT 0.453 48 148 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77763549 77763549 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:77763549C>T uc003yav.2 + 10 4644 c.4257C>T c.(4255-4257)CCC>CCT p.P1419P ZFHX4_uc003yau.1_Silent_p.P1464P|ZFHX4_uc003yaw.1_Silent_p.P1419P NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1419 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCTCCTTGCCCGTGAATGGAG 0.507 HNSCC(33;0.089) 12 32 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77765673 77765673 + Silent SNP T G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:77765673T>G uc003yav.2 + 10 6768 c.6381T>G c.(6379-6381)GTT>GTG p.V2127V ZFHX4_uc003yau.1_Silent_p.V2172V|ZFHX4_uc003yaw.1_Silent_p.V2127V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2127 Homeobox 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCCAAAAAGTTATCAAACACT 0.363 HNSCC(33;0.089) 99 122 --- --- --- --- PASS E2F5 1875 broad.mit.edu 37 8 86121488 86121488 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:86121488G>A uc003ycz.3 + 6 764 c.727G>A c.(727-729)GTT>ATT p.V243I E2F5_uc003yda.3_Missense_Mutation_p.V243I|E2F5_uc010mab.2_Missense_Mutation_p.V82I|E2F5_uc003ydb.3_Missense_Mutation_p.V62I NM_001951 NP_001942 Q15329 E2F5_HUMAN E2F transcription factor 5 isoform 1 243 G1 phase of mitotic cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 GGTTTTTCCTGTTCCCCCACC 0.458 13 100 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89339329 89339329 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:89339329C>T uc003yeb.3 - 1 389 c.107G>A c.(106-108)GGA>GAA p.G36E MMP16_uc003yec.2_Missense_Mutation_p.G36E NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 36 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 CTGCTCCGTTCCGCAGACTGT 0.502 6 148 --- --- --- --- PASS RBM12B 389677 broad.mit.edu 37 8 94746677 94746677 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:94746677G>A uc003yfz.2 - 3 2155 c.1962C>T c.(1960-1962)CCC>CCT p.P654P NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 654 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) CCTCCTCAGGGGGTTGCCTGA 0.642 55 221 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100568799 100568799 + Nonsense_Mutation SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:100568799A>T uc003yiv.2 + 31 5053 c.4942A>T c.(4942-4944)AAG>TAG p.K1648* VPS13B_uc003yiw.2_Nonsense_Mutation_p.K1623* NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1648 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAAACCAGAGAAGGAAAGTGT 0.438 9 89 --- --- --- --- PASS LRP12 29967 broad.mit.edu 37 8 105502956 105502956 + Nonsense_Mutation SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:105502956A>T uc003yma.2 - 7 2620 c.2525T>A c.(2524-2526)TTA>TAA p.L842* LRP12_uc003ymb.2_Nonsense_Mutation_p.L823*|LRP12_uc003ylz.2_Nonsense_Mutation_p.L248* NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 842 Cytoplasmic (Potential). endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGTTACTTCTAAGCAAGTGTC 0.433 39 134 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110497275 110497275 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:110497275G>T uc003yne.2 + 58 9683 c.9579G>T c.(9577-9579)GAG>GAT p.E3193D NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3193 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) TTTCTAAGGAGGGAGAAGAGA 0.279 HNSCC(38;0.096) 10 62 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113518987 113518987 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:113518987G>A uc003ynu.2 - 29 4987 c.4828C>T c.(4828-4830)CAT>TAT p.H1610Y CSMD3_uc003yns.2_Missense_Mutation_p.H882Y|CSMD3_uc003ynt.2_Missense_Mutation_p.H1570Y|CSMD3_uc011lhx.1_Missense_Mutation_p.H1506Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1610 Extracellular (Potential).|CUB 9. 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 TCTCTGCTATGCGGATATGGA 0.383 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 87 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 114448937 114448937 + Silent SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:114448937G>C uc003ynu.2 - 1 306 c.147C>G c.(145-147)CTC>CTG p.L49L CSMD3_uc011lhx.1_Silent_p.L49L|CSMD3_uc010mcx.1_Silent_p.L49L|CSMD3_uc003ynx.3_Silent_p.L49L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 49 Helical; (Potential). 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 ATAAAAAGACGAGGTTCCAAA 0.507 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 94 285 --- --- --- --- PASS ZHX2 22882 broad.mit.edu 37 8 123964740 123964740 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:123964740G>A uc003ypk.1 + 3 1557 c.990G>A c.(988-990)CGG>CGA p.R330R NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 330 Required for interaction with NFYA.|Required for homodimerization.|Required for repressor activity.|Required for nuclear localization. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AGGAGGCCCGGAAGAAGATGT 0.597 42 120 --- --- --- --- PASS FAM83A 84985 broad.mit.edu 37 8 124219473 124219473 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:124219473G>A uc003ypv.2 + 5 2864 c.850G>A c.(850-852)GAG>AAG p.E284K FAM83A_uc003ypw.2_Missense_Mutation_p.E284K|FAM83A_uc003ypy.2_Missense_Mutation_p.E228K|FAM83A_uc003ypx.2_Missense_Mutation_p.E284K|FAM83A_uc003ypz.2_Missense_Mutation_p.E284K NM_032899 NP_116288 Q86UY5 FA83A_HUMAN hypothetical protein LOC84985 isoform a 284 ovary(3)|skin(1) 4 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GCTGTTTGACGAGGAGTTCCG 0.572 4 53 --- --- --- --- PASS ATAD2 29028 broad.mit.edu 37 8 124408548 124408548 + Nonsense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:124408548G>T uc003yqh.3 - 1 158 c.50C>A c.(49-51)TCG>TAG p.S17* ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_Intron|ATAD2_uc003yqj.2_Nonsense_Mutation_p.S17* NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GCCCGTGGCCGAGGCCGCGGA 0.682 8 45 --- --- --- --- PASS ASAP1 50807 broad.mit.edu 37 8 131130450 131130450 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:131130450C>A uc003yta.1 - 19 1865 c.1837G>T c.(1837-1839)GAT>TAT p.D613Y ASAP1_uc003ysz.1_Missense_Mutation_p.D424Y|ASAP1_uc011liw.1_Missense_Mutation_p.D606Y NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 613 ANK 1. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 GATGTCTGATCTGCAGTTCGG 0.403 31 102 --- --- --- --- PASS CYP11B2 1585 broad.mit.edu 37 8 143996481 143996481 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:143996481G>C uc003yxk.1 - 3 579 c.576C>G c.(574-576)ATC>ATG p.I192M NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 192 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) TGTAGTGGAAGATGCTGGGCT 0.637 Familial_Hyperaldosteronism_type_I 9 48 --- --- --- --- PASS TIGD5 84948 broad.mit.edu 37 8 144681126 144681126 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:144681126G>T uc003yyx.1 + 1 906 c.906G>T c.(904-906)CAG>CAT p.Q302H EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank NM_032862 NP_116251 Q53EQ6 TIGD5_HUMAN tigger transposable element derived 5 351 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GCCTGCAGCAGAAGGCCGTGC 0.706 5 11 --- --- --- --- PASS TIGD5 84948 broad.mit.edu 37 8 144681439 144681439 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:144681439G>C uc003yyx.1 + 1 1219 c.1219G>C c.(1219-1221)GAC>CAC p.D407H EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank NM_032862 NP_116251 Q53EQ6 TIGD5_HUMAN tigger transposable element derived 5 456 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CATGCTCAAGGACATGCTCTA 0.677 7 36 --- --- --- --- PASS TIGD5 84948 broad.mit.edu 37 8 144681815 144681815 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:144681815G>T uc003yyx.1 + 1 1595 c.1595G>T c.(1594-1596)GGA>GTA p.G532V EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank NM_032862 NP_116251 Q53EQ6 TIGD5_HUMAN tigger transposable element derived 5 581 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) ACCGACTATGGAGGGACCTCA 0.716 6 40 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144996741 144996741 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:144996741G>A uc003zaf.1 - 31 7937 c.7767C>T c.(7765-7767)ATC>ATT p.I2589I PLEC_uc003zab.1_Silent_p.I2452I|PLEC_uc003zac.1_Silent_p.I2456I|PLEC_uc003zad.2_Silent_p.I2452I|PLEC_uc003zae.1_Silent_p.I2420I|PLEC_uc003zag.1_Silent_p.I2430I|PLEC_uc003zah.2_Silent_p.I2438I|PLEC_uc003zaj.2_Silent_p.I2479I NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2589 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CCAGCTCAGCGATGGCCTCCC 0.642 10 57 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 145049349 145049349 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:145049349G>A uc003zaj.2 - 2 238 c.189C>T c.(187-189)ATC>ATT p.I63I PLEC_uc003zah.2_5'Flank NM_000445 NP_000436 Q15149 PLEC_HUMAN plectin isoform 1c Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 AGTTACCTGCGATGCGAATGA 0.687 OREG0019050 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 119 --- --- --- --- PASS KIFC2 90990 broad.mit.edu 37 8 145693754 145693754 + Nonsense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:145693754G>T uc003zcz.2 + 8 918 c.853G>T c.(853-855)GAG>TAG p.E285* CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 285 Potential.|Gln-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CCGGCTTCAGGAGGCCCAAGA 0.667 16 88 --- --- --- --- PASS MFSD3 113655 broad.mit.edu 37 8 145736103 145736103 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr8:145736103G>A uc003zdi.1 + 3 1118 c.953G>A c.(952-954)AGA>AAA p.R318K NM_138431 NP_612440 Q96ES6 MFSD3_HUMAN major facilitator superfamily domain containing 318 Leu-rich. transmembrane transport integral to membrane central_nervous_system(2) 2 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) ACAATCTTGAGAGGTGAGGGG 0.652 21 150 --- --- --- --- PASS ERMP1 79956 broad.mit.edu 37 9 5833008 5833008 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr9:5833008G>A uc003zjm.1 - 1 74 c.20C>T c.(19-21)TCG>TTG p.S7L ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_5'UTR|ERMP1_uc003zjn.1_Missense_Mutation_p.S7L NM_024896 NP_079172 Q7Z2K6 ERMP1_HUMAN aminopeptidase Fxna 7 Cytoplasmic (Potential). proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity ovary(1) 1 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) CACAGCAGCCGACTCAGAACC 0.627 8 6 --- --- --- --- PASS FRMD3 257019 broad.mit.edu 37 9 86004554 86004554 + Missense_Mutation SNP A G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr9:86004554A>G uc004ams.1 - 2 419 c.217T>C c.(217-219)TTT>CTT p.F73L FRMD3_uc004amr.1_Missense_Mutation_p.F59L NM_174938 NP_777598 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 73 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1)|central_nervous_system(1) 2 CGAATGCCAAAGTAGTCCTTC 0.498 19 72 --- --- --- --- PASS RMI1 80010 broad.mit.edu 37 9 86616459 86616459 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr9:86616459C>T uc004anq.3 + 3 966 c.558C>T c.(556-558)AAC>AAT p.N186N RMI1_uc004anr.3_Silent_p.N186N|RMI1_uc004anp.3_Silent_p.N186N|RMI1_uc004ans.3_Silent_p.N186N NM_024945 NP_079221 Q9H9A7 RMI1_HUMAN RMI1, RecQ mediated genome instability 1, 186 DNA replication nucleus 0 AACCAGAAAACGTGAAAGTGT 0.353 29 55 --- --- --- --- PASS PPP3R2 5535 broad.mit.edu 37 9 104357169 104357169 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr9:104357169C>G uc004bbr.2 - 1 115 c.44G>C c.(43-45)TGC>TCC p.C15S GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN protein phosphatase 3 regulatory subunit B, beta 12 calcium ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) AAAGTGGGAGCACATCTCCGC 0.562 32 46 --- --- --- --- PASS KIAA1958 158405 broad.mit.edu 37 9 115421863 115421863 + Silent SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr9:115421863C>G uc004bgf.1 + 4 1840 c.1665C>G c.(1663-1665)CTC>CTG p.L555L KIAA1958_uc011lwx.1_Silent_p.L583L NM_133465 NP_597722 Q8N8K9 K1958_HUMAN hypothetical protein LOC158405 555 skin(1) 1 CTATCACTCTCCTGTCCACTG 0.567 8 16 --- --- --- --- PASS FKBP15 23307 broad.mit.edu 37 9 115940912 115940912 + Nonsense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr9:115940912G>C uc004bgs.2 - 20 2202 c.2084C>G c.(2083-2085)TCA>TGA p.S695* FKBP15_uc010muu.1_Nonsense_Mutation_p.S759*|FKBP15_uc004bgr.2_Nonsense_Mutation_p.S132*|FKBP15_uc011lxc.1_Nonsense_Mutation_p.S276*|FKBP15_uc011lxd.1_Nonsense_Mutation_p.S627*|FKBP15_uc010mut.1_Nonsense_Mutation_p.S563* NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 695 Potential. endocytosis|protein folding axon|early endosome actin binding ovary(3) 3 GCACATACCTGAGAGCTTTGC 0.463 4 7 --- --- --- --- PASS QRFP 347148 broad.mit.edu 37 9 133768899 133768899 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr9:133768899G>T uc011mcb.1 - 1 327 c.327C>A c.(325-327)AGC>AGA p.S109R NM_198180 NP_937823 P83859 OX26_HUMAN RF(Arg-Phe)amide family 26 amino acid peptide 109 locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior extracellular region neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding 0 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267) CTAACGGGCCGCTGGTCTTCT 0.647 48 58 --- --- --- --- PASS GFI1B 8328 broad.mit.edu 37 9 135866411 135866411 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr9:135866411C>T uc004ccg.2 + 7 1118 c.967C>T c.(967-969)CGC>TGC p.R323C GFI1B_uc010mzy.2_Missense_Mutation_p.R277C NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription 323 C2H2-type 6.|Mediates interaction with GATA1.|Interaction with ARIH2. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) GCGGCGGCACCGCGAGAGCCA 0.652 17 23 --- --- --- --- PASS ABCA2 20 broad.mit.edu 37 9 139909531 139909531 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr9:139909531C>A uc011mem.1 - 24 3861 c.3713G>T c.(3712-3714)AGC>ATC p.S1238I ABCA2_uc011mel.1_Missense_Mutation_p.S1239I|ABCA2_uc004ckl.1_Missense_Mutation_p.S1169I|ABCA2_uc004ckm.1_Missense_Mutation_p.S1269I|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 1238 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) ACCTGGGGGGCTGGATGCCAG 0.652 17 91 --- --- --- --- PASS TUBB8 347688 broad.mit.edu 37 10 93743 93743 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:93743C>G uc001ifi.2 - 4 589 c.589G>C c.(589-591)GAT>CAT p.D197H TUBB8_uc009xhe.2_Missense_Mutation_p.D160H|TUBB8_uc010pzs.1_Missense_Mutation_p.D125H NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 isoform 1 197 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) AAGGTCTCATCTGCGTTTTCT 0.522 71 159 --- --- --- --- PASS ZMYND11 10771 broad.mit.edu 37 10 282786 282786 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:282786G>C uc010pzt.1 + 5 875 c.447G>C c.(445-447)AAG>AAC p.K149N ZMYND11_uc001ifk.2_Missense_Mutation_p.K149N|ZMYND11_uc010pzu.1_Missense_Mutation_p.K149N|ZMYND11_uc010pzv.1_Missense_Mutation_p.K95N|ZMYND11_uc010pzw.1_Missense_Mutation_p.K95N|ZMYND11_uc001ifm.2_Missense_Mutation_p.K95N|ZMYND11_uc010pzx.1_Missense_Mutation_p.K149N|ZMYND11_uc001ifn.2_Missense_Mutation_p.K95N|ZMYND11_uc009xhg.2_Missense_Mutation_p.K132N|ZMYND11_uc009xhh.2_Missense_Mutation_p.K49N|ZMYND11_uc010pzy.1_Missense_Mutation_p.K49N NM_006624 NP_006615 Q15326 ZMY11_HUMAN zinc finger, MYND domain containing 11 isoform 109 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AGAGCATTAAGAAGAAGAATA 0.338 8 48 --- --- --- --- PASS IDI2 91734 broad.mit.edu 37 10 1065705 1065705 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:1065705C>G uc001ifv.1 - 5 501 c.436G>C c.(436-438)GAG>CAG p.E146Q C10orf110_uc010qaf.1_5'Flank|C10orf110_uc001ifx.3_5'Flank|C10orf110_uc001ifw.3_5'Flank|C10orf110_uc001ify.3_5'Flank NM_033261 NP_150286 Q9BXS1 IDI2_HUMAN isopentenyl-diphosphate delta isomerase 2 146 Nudix hydrolase. Magnesium (By similarity). carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding 0 Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.143) Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192) ATTTCATGCTCTCCCCAAATT 0.438 29 74 --- --- --- --- PASS FAM171A1 221061 broad.mit.edu 37 10 15255181 15255181 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:15255181C>A uc001iob.2 - 8 2413 c.2406G>T c.(2404-2406)GGG>GGT p.G802G NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 802 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 AGACCGTGGTCCCACATTCGC 0.622 22 37 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17024625 17024625 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:17024625C>A uc001ioo.2 - 31 4605 c.4553G>T c.(4552-4554)AGT>ATT p.S1518I NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1518 CUB 10. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AATCTCTCCACTGGGAGCCTG 0.443 19 38 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37508275 37508275 + Missense_Mutation SNP T A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:37508275T>A uc001iza.1 + 34 3566 c.3467T>A c.(3466-3468)ATT>AAT p.I1156N NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1212 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CATGATCAAATTGTGACATCA 0.363 17 64 --- --- --- --- PASS ZNF37A 7587 broad.mit.edu 37 10 38407496 38407496 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:38407496G>T uc001izk.2 + 8 2236 c.1417G>T c.(1417-1419)GGG>TGG p.G473W ZNF37A_uc001izl.2_Missense_Mutation_p.G473W|ZNF37A_uc001izm.2_Missense_Mutation_p.G473W NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 473 C2H2-type 10. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 TAATGAATGTGGGAAAACCTT 0.398 17 51 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55591249 55591249 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:55591249G>T uc001jju.1 - 30 4423 c.4028C>A c.(4027-4029)CCG>CAG p.P1343Q PCDH15_uc010qhq.1_Missense_Mutation_p.P1348Q|PCDH15_uc010qhr.1_Missense_Mutation_p.P1343Q|PCDH15_uc010qhs.1_Missense_Mutation_p.P1355Q|PCDH15_uc010qht.1_Missense_Mutation_p.P1350Q|PCDH15_uc010qhu.1_Missense_Mutation_p.P1343Q|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1343Q|PCDH15_uc010qhw.1_Missense_Mutation_p.P1306Q|PCDH15_uc010qhx.1_Missense_Mutation_p.P1272Q|PCDH15_uc010qhy.1_Missense_Mutation_p.P1348Q|PCDH15_uc010qhz.1_Missense_Mutation_p.P1343Q|PCDH15_uc010qia.1_Missense_Mutation_p.P1321Q|PCDH15_uc010qib.1_Missense_Mutation_p.P1321Q NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1343 Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CCCATAATACGGCTGAAAGTC 0.398 HNSCC(58;0.16) 12 67 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55600180 55600180 + Nonsense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:55600180C>A uc001jju.1 - 29 4278 c.3883G>T c.(3883-3885)GGA>TGA p.G1295* PCDH15_uc010qhq.1_Nonsense_Mutation_p.G1300*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.G1295*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.G1307*|PCDH15_uc010qht.1_Nonsense_Mutation_p.G1302*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.G1295*|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Nonsense_Mutation_p.G1295*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.G1258*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.G1224*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.G1300*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.G1295*|PCDH15_uc010qia.1_Nonsense_Mutation_p.G1273*|PCDH15_uc010qib.1_Nonsense_Mutation_p.G1273* NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1295 Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AAGGCATCTCCATGCCGGCGA 0.438 HNSCC(58;0.16) 28 74 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 68526066 68526066 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:68526066C>G uc009xpn.1 - 9 1360 c.1237G>C c.(1237-1239)GAA>CAA p.E413Q CTNNA3_uc001jmw.2_Missense_Mutation_p.E413Q|CTNNA3_uc001jmx.3_Missense_Mutation_p.E413Q NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 413 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 GCAGCATATTCTTTTATTTCC 0.433 50 129 --- --- --- --- PASS COL13A1 1305 broad.mit.edu 37 10 71664711 71664711 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:71664711C>A uc001jpr.1 + 15 1447 c.911C>A c.(910-912)CCA>CAA p.P304Q COL13A1_uc001jqj.1_Missense_Mutation_p.P304Q|COL13A1_uc001jps.1_Missense_Mutation_p.P275Q|COL13A1_uc001jpt.1_Missense_Mutation_p.P263Q|COL13A1_uc001jpu.1_Missense_Mutation_p.P285Q|COL13A1_uc001jpv.1_Missense_Mutation_p.P304Q|COL13A1_uc001jpx.1_Missense_Mutation_p.P282Q|COL13A1_uc001jpw.1_Missense_Mutation_p.P251Q|COL13A1_uc001jpy.1_Missense_Mutation_p.P242Q|COL13A1_uc001jpz.1_Missense_Mutation_p.P247Q|COL13A1_uc001jqa.1_Missense_Mutation_p.P244Q|COL13A1_uc001jqc.1_Missense_Mutation_p.P304Q|COL13A1_uc001jqb.1_Missense_Mutation_p.P253Q|COL13A1_uc001jql.2_Missense_Mutation_p.P304Q|COL13A1_uc001jqd.1_Missense_Mutation_p.P292Q|COL13A1_uc001jqe.1_Missense_Mutation_p.P287Q|COL13A1_uc001jqf.1_Missense_Mutation_p.P285Q|COL13A1_uc001jqg.1_Missense_Mutation_p.P282Q|COL13A1_uc001jqh.1_Missense_Mutation_p.P304Q|COL13A1_uc001jqi.1_Missense_Mutation_p.P304Q|COL13A1_uc010qjf.1_Missense_Mutation_p.P94Q|COL13A1_uc001jqk.1_Missense_Mutation_p.P142Q NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 304 Extracellular (Potential).|Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) CCTCCTGGACCAAAGGTGAGT 0.493 3 7 --- --- --- --- PASS COL13A1 1305 broad.mit.edu 37 10 71682537 71682537 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:71682537C>A uc001jpr.1 + 21 1720 c.1184C>A c.(1183-1185)CCC>CAC p.P395H COL13A1_uc001jqj.1_Missense_Mutation_p.P395H|COL13A1_uc001jps.1_Missense_Mutation_p.P366H|COL13A1_uc001jpt.1_Missense_Mutation_p.P354H|COL13A1_uc001jpu.1_Missense_Mutation_p.P376H|COL13A1_uc001jpv.1_Missense_Mutation_p.P395H|COL13A1_uc001jpx.1_Missense_Mutation_p.P373H|COL13A1_uc001jpw.1_Missense_Mutation_p.P342H|COL13A1_uc001jpy.1_Missense_Mutation_p.P333H|COL13A1_uc001jpz.1_Missense_Mutation_p.P338H|COL13A1_uc001jqa.1_Missense_Mutation_p.P335H|COL13A1_uc001jqc.1_Missense_Mutation_p.P395H|COL13A1_uc001jqb.1_Missense_Mutation_p.P344H|COL13A1_uc001jql.2_Missense_Mutation_p.P395H|COL13A1_uc001jqd.1_Missense_Mutation_p.P383H|COL13A1_uc001jqe.1_Missense_Mutation_p.P378H|COL13A1_uc001jqf.1_Missense_Mutation_p.P376H|COL13A1_uc001jqg.1_Missense_Mutation_p.P373H|COL13A1_uc001jqh.1_Missense_Mutation_p.P395H|COL13A1_uc001jqi.1_Missense_Mutation_p.P395H|COL13A1_uc010qjf.1_Missense_Mutation_p.P185H|COL13A1_uc001jqk.1_Missense_Mutation_p.P233H NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 395 Extracellular (Potential).|Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) CTCCCTGGGCCCCCAGGGCCA 0.617 6 14 --- --- --- --- PASS USP54 159195 broad.mit.edu 37 10 75276616 75276616 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:75276616G>A uc001juo.2 - 18 3585 c.3568C>T c.(3568-3570)CTG>TTG p.L1190L USP54_uc010qkk.1_Silent_p.L372L|USP54_uc001juk.2_Silent_p.L278L|USP54_uc001jul.2_Silent_p.L278L|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1190 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) CCACCCTCCAGAGAGGATTGT 0.502 113 251 --- --- --- --- PASS GLUD1 2746 broad.mit.edu 37 10 88817471 88817471 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:88817471C>T uc001keh.2 - 11 1568 c.1471G>A c.(1471-1473)GCA>ACA p.A491T GLUD1_uc001keg.2_Missense_Mutation_p.A324T|GLUD1_uc010qmp.1_Missense_Mutation_p.A358T NM_005271 NP_005262 P00367 DHE3_HUMAN glutamate dehydrogenase 1 precursor 491 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding 0 L-Glutamic Acid(DB00142)|NADH(DB00157) TGGAACTCTGCCGTGGGTACA 0.428 4 132 --- --- --- --- PASS KIF20B 9585 broad.mit.edu 37 10 91497625 91497625 + Silent SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:91497625C>G uc001kgs.1 + 20 3099 c.3027C>G c.(3025-3027)CTC>CTG p.L1009L KIF20B_uc001kgr.1_Silent_p.L969L|KIF20B_uc001kgt.1_Silent_p.L220L|KIF20B_uc009xtw.1_RNA NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 1009 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 TGCTCAATCTCAGGGATCTGT 0.323 15 88 --- --- --- --- PASS TNKS2 80351 broad.mit.edu 37 10 93608302 93608302 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:93608302C>G uc001khp.2 + 19 2818 c.2521C>G c.(2521-2523)CTT>GTT p.L841V NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 841 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) AGCCAGCAGTCTTGACAACTT 0.493 19 86 --- --- --- --- PASS PKD2L1 9033 broad.mit.edu 37 10 102054753 102054753 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:102054753C>A uc001kqx.1 - 8 1867 c.1484G>T c.(1483-1485)GGC>GTC p.G495V PKD2L1_uc009xwm.1_Missense_Mutation_p.G448V NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 495 Helical; (Potential). signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding ovary(4) 4 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) AAGCAGGTAGCCGAGTTGGGC 0.562 14 58 --- --- --- --- PASS PSD 5662 broad.mit.edu 37 10 104172152 104172152 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:104172152C>T uc001kvg.1 - 6 2261 c.1734G>A c.(1732-1734)CGG>CGA p.R578R PSD_uc001kvh.1_Silent_p.R199R|PSD_uc009xxd.1_Silent_p.R578R NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 578 SEC7. 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) TGCCCAGGTGCCGGGCCACAT 0.597 11 28 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108923810 108923810 + Nonsense_Mutation SNP T A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:108923810T>A uc001kym.2 - 1 483 c.475A>T c.(475-477)AGA>TGA p.R159* SORCS1_uc001kyl.2_Nonsense_Mutation_p.R159*|SORCS1_uc009xxs.2_Nonsense_Mutation_p.R159*|SORCS1_uc001kyn.1_Nonsense_Mutation_p.R159*|SORCS1_uc001kyo.2_Nonsense_Mutation_p.R159* NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 159 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CTGGTCAGTCTCAGCTCCTCC 0.632 12 63 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108923811 108923811 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:108923811C>A uc001kym.2 - 1 482 c.474G>T c.(472-474)CTG>CTT p.L158L SORCS1_uc001kyl.2_Silent_p.L158L|SORCS1_uc009xxs.2_Silent_p.L158L|SORCS1_uc001kyn.1_Silent_p.L158L|SORCS1_uc001kyo.2_Silent_p.L158L NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 158 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGGTCAGTCTCAGCTCCTCCA 0.637 12 64 --- --- --- --- PASS SMC3 9126 broad.mit.edu 37 10 112361435 112361435 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:112361435G>A uc001kze.2 + 24 2811 c.2685G>A c.(2683-2685)AAG>AAA p.K895K NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 895 Potential. cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) CTGGAATTAAGGAGCTTCAGA 0.353 20 147 --- --- --- --- PASS SMC3 9126 broad.mit.edu 37 10 112361436 112361436 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:112361436G>A uc001kze.2 + 24 2812 c.2686G>A c.(2686-2688)GAG>AAG p.E896K NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 896 Potential. cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) TGGAATTAAGGAGCTTCAGAA 0.353 20 146 --- --- --- --- PASS HABP2 3026 broad.mit.edu 37 10 115341888 115341888 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:115341888C>A uc001lai.3 + 9 1195 c.1092C>A c.(1090-1092)ACC>ACA p.T364T HABP2_uc010qrz.1_Intron NM_004132 NP_004123 Q14520 HABP2_HUMAN hyaluronan binding protein 2 preproprotein 364 Peptidase S1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) CCCACTGCACCGAGTAGGTGC 0.637 3 19 --- --- --- --- PASS ATRNL1 26033 broad.mit.edu 37 10 117093882 117093882 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:117093882G>T uc001lcg.2 + 19 3514 c.3128G>T c.(3127-3129)TGT>TTT p.C1043F ATRNL1_uc010qsm.1_Intron|ATRNL1_uc010qsn.1_Intron NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1043 Laminin EGF-like 1.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TGTCAAGATTGTATGCCAGGT 0.368 10 51 --- --- --- --- PASS PNLIPRP3 119548 broad.mit.edu 37 10 118231286 118231286 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:118231286G>A uc001lcl.3 + 10 1168 c.1067G>A c.(1066-1068)AGG>AAG p.R356K NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 356 PLAT. lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) CTAGGTTGGAGGCACAAATTG 0.413 31 166 --- --- --- --- PASS SLC18A2 6571 broad.mit.edu 37 10 119012937 119012937 + Silent SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:119012937G>C uc001ldd.1 + 4 523 c.492G>C c.(490-492)GCG>GCC p.A164A SLC18A2_uc009xyy.1_5'UTR NM_003054 NP_003045 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine), 164 Helical; (Potential). neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity 0 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) CCATATTTGCGGGATTCTGCA 0.433 19 136 --- --- --- --- PASS LRDD 55367 broad.mit.edu 37 11 803520 803520 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:803520C>T uc001lro.1 - 3 505 c.363G>A c.(361-363)CTG>CTA p.L121L LRDD_uc009yck.1_5'Flank|LRDD_uc001lrk.1_Silent_p.L121L|LRDD_uc001lrl.1_5'UTR|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_5'UTR|LRDD_uc001lrp.1_5'UTR NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 121 apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCAGGCCACTCAGACCAGCGG 0.677 8 27 --- --- --- --- PASS CHID1 66005 broad.mit.edu 37 11 884148 884148 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:884148G>A uc001lsl.2 - 9 884 c.723C>T c.(721-723)TTC>TTT p.F241F CHID1_uc010qwu.1_Silent_p.F271F|CHID1_uc010qwv.1_Silent_p.F302F|CHID1_uc001lsn.2_Silent_p.F266F|CHID1_uc001lsm.2_Silent_p.F241F|CHID1_uc001lso.2_Silent_p.F241F|CHID1_uc001lsp.2_Silent_p.F210F|CHID1_uc010qww.1_Silent_p.F241F|uc001lsq.1_5'Flank|uc001lsr.1_5'Flank NM_023947 NP_076436 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 isoform a 241 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity 0 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) CCTTGTGCGTGAACATGCCCA 0.612 9 30 --- --- --- --- PASS MUC2 4583 broad.mit.edu 37 11 1087495 1087495 + Nonsense_Mutation SNP T A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:1087495T>A uc001lsx.1 + 24 3273 c.3246T>A c.(3244-3246)TGT>TGA p.C1082* NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 1082 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CGTGCTCCTGTGACACGGGTG 0.657 6 37 --- --- --- --- PASS OR52B4 143496 broad.mit.edu 37 11 4389100 4389100 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:4389100C>A uc010qye.1 - 1 426 c.426G>T c.(424-426)CTG>CTT p.L142L NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) TTTTCTTGATCAGAGCATTTG 0.383 20 63 --- --- --- --- PASS TPP1 1200 broad.mit.edu 37 11 6635806 6635806 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:6635806C>A uc001mel.1 - 13 1724 c.1663G>T c.(1663-1665)GCT>TCT p.A555S TAF10_uc001mej.1_5'Flank|TPP1_uc001mek.1_Missense_Mutation_p.A312S NM_000391 NP_000382 O14773 TPP1_HUMAN tripeptidyl-peptidase I preproprotein 555 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) TTCAGCAAAGCTGGGAAGTTG 0.562 18 77 --- --- --- --- PASS SERGEF 26297 broad.mit.edu 37 11 18029510 18029510 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:18029510C>T uc001mnm.2 - 2 254 c.174G>A c.(172-174)GGG>GGA p.G58G SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Silent_p.G58G|SERGEF_uc010rcz.1_5'UTR|SERGEF_uc001mno.1_5'UTR NM_012139 NP_036271 Q9UGK8 SRGEF_HUMAN deafness locus associated putative guanine 58 RCC1 1. negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 CAGAGTGGCCCCCTCCTCCTG 0.468 23 62 --- --- --- --- PASS SAAL1 113174 broad.mit.edu 37 11 18111804 18111804 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:18111804C>A uc001mnq.2 - 6 557 c.507G>T c.(505-507)GTG>GTT p.V169V SAAL1_uc001mnr.2_Silent_p.V169V|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Silent_p.V169V NM_138421 NP_612430 Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 169 acute-phase response extracellular region binding 0 AAACACTGGCCACTTCTGCCT 0.373 7 44 --- --- --- --- PASS MRGPRX2 117194 broad.mit.edu 37 11 19077955 19077955 + Translation_Start_Site SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:19077955G>T uc001mph.2 - 2 83 c.-5C>A c.(-7--3)TTCTG>TTATG NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding ovary(1) 1 TCCATGCTCAGAAAACCTCCA 0.413 37 188 --- --- --- --- PASS NAV2 89797 broad.mit.edu 37 11 20124928 20124928 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:20124928G>T uc001mpr.3 + 33 6915 c.6554G>T c.(6553-6555)GGG>GTG p.G2185V NAV2_uc001mpp.2_Missense_Mutation_p.G2118V|NAV2_uc009yhx.2_Missense_Mutation_p.G1246V|NAV2_uc009yhz.2_Missense_Mutation_p.G827V|NAV2_uc001mpu.2_Missense_Mutation_p.G620V|NAV2_uc001mpv.2_5'Flank NM_182964 NP_892009 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 1 2241 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 ATCTTCAATGGGCTGCTCAAC 0.557 18 94 --- --- --- --- PASS ANO5 203859 broad.mit.edu 37 11 22294421 22294421 + Silent SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:22294421G>T uc001mqi.2 + 19 2438 c.2121G>T c.(2119-2121)GTG>GTT p.V707V ANO5_uc001mqj.2_Silent_p.V706V NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 707 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 AGATTCGAGTGGATGCCTGGA 0.393 14 58 --- --- --- --- PASS CCDC73 493860 broad.mit.edu 37 11 32635290 32635290 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:32635290G>A uc001mtv.2 - 16 2618 c.2574C>T c.(2572-2574)TTC>TTT p.F858F NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 858 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) GTCCTTCACTGAACATTTTTC 0.358 29 132 --- --- --- --- PASS CD44 960 broad.mit.edu 37 11 35226076 35226076 + Missense_Mutation SNP A G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:35226076A>G uc001mvu.2 + 10 1605 c.1171A>G c.(1171-1173)AGT>GGT p.S391G CD44_uc001mvv.2_Missense_Mutation_p.S348G|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Intron|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron NM_000610 NP_000601 P16070 CD44_HUMAN CD44 antigen isoform 1 precursor 391 Extracellular (Potential).|Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity pancreas(1) 1 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) AACTCCTAGTAGTACAACGGA 0.443 35 56 --- --- --- --- PASS RAG1 5896 broad.mit.edu 37 11 36595984 36595984 + Nonsense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:36595984C>G uc001mwu.3 + 2 1254 c.1130C>G c.(1129-1131)TCA>TGA p.S377* RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 377 RAG1-type. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) CACCACATCTCAAGTCACAAG 0.468 Familial_Hemophagocytic_Lymphohistiocytosis 16 60 --- --- --- --- PASS API5 8539 broad.mit.edu 37 11 43357478 43357478 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:43357478G>C uc010rfh.1 + 13 1599 c.1426G>C c.(1426-1428)GAT>CAT p.D476H API5_uc010rfg.1_Missense_Mutation_p.D465H|API5_uc001mxf.2_Missense_Mutation_p.D476H|API5_uc010rfi.1_Missense_Mutation_p.D422H|API5_uc001mxg.2_Missense_Mutation_p.D350H NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 isoform a 476 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 ACCAAAAAGAGATGCCAGGCA 0.423 14 52 --- --- --- --- PASS SYT13 57586 broad.mit.edu 37 11 45265766 45265766 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:45265766C>G uc001myq.2 - 6 1244 c.1118G>C c.(1117-1119)AGT>ACT p.S373T SYT13_uc009yku.1_Missense_Mutation_p.S229T NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 373 C2 2.|Cytoplasmic (Potential). transport vesicle ovary(1) 1 CAGCTCCACACTGGAGGCCTG 0.597 18 30 --- --- --- --- PASS CKAP5 9793 broad.mit.edu 37 11 46772716 46772716 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:46772716C>G uc001ndi.1 - 40 5522 c.5412G>C c.(5410-5412)CAG>CAC p.Q1804H CKAP5_uc009ylg.1_Missense_Mutation_p.Q1697H|CKAP5_uc001ndj.1_Missense_Mutation_p.Q1744H|CKAP5_uc001ndh.1_Missense_Mutation_p.Q733H NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 1804 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 TGCTCCCAGTCTGGTCCATAC 0.507 22 79 --- --- --- --- PASS LRP4 4038 broad.mit.edu 37 11 46898789 46898789 + Missense_Mutation SNP T C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:46898789T>C uc001ndn.3 - 23 3384 c.3238A>G c.(3238-3240)ATG>GTG p.M1080V NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1080 Extracellular (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) GTGTTCTTCATGGTAATGTTG 0.498 20 115 --- --- --- --- PASS NUP160 23279 broad.mit.edu 37 11 47809787 47809787 + Silent SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:47809787G>C uc001ngm.2 - 31 3778 c.3693C>G c.(3691-3693)CTC>CTG p.L1231L NUP160_uc009ylw.2_RNA NM_015231 NP_056046 Q12769 NU160_HUMAN nucleoporin 160kDa 1231 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 AAGTCTGACAGAGTGATATGG 0.378 8 32 --- --- --- --- PASS OR4A16 81327 broad.mit.edu 37 11 55110996 55110996 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:55110996G>T uc010rie.1 + 1 320 c.320G>T c.(319-321)GGT>GTT p.G107V NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 107 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 TTACTTGGTGGTGCAGAGGTC 0.448 18 283 --- --- --- --- PASS OR5L1 219437 broad.mit.edu 37 11 55579266 55579266 + Silent SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:55579266G>T uc001nhw.1 + 1 324 c.324G>T c.(322-324)GTG>GTT p.V108V NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) GCACTTGTGTGGTCACTGAGG 0.468 30 156 --- --- --- --- PASS OR5F1 338674 broad.mit.edu 37 11 55761313 55761313 + Missense_Mutation SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:55761313A>T uc010riv.1 - 1 789 c.789T>A c.(787-789)AGT>AGA p.S263R NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 263 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) AGTAGCTGGAACTAGGTCTCA 0.507 23 112 --- --- --- --- PASS OR9G9 504191 broad.mit.edu 37 11 56468503 56468503 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:56468503C>A uc010rjn.1 + 1 640 c.640C>A c.(640-642)CTG>ATG p.L214M NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 214 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGTGCTCATCCTGGCCTCCTA 0.552 13 235 --- --- --- --- PASS YPEL4 219539 broad.mit.edu 37 11 57413795 57413795 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:57413795C>T uc001nkv.3 - 4 713 c.269G>A c.(268-270)TGC>TAC p.C90Y uc001nkt.1_Intron|YPEL4_uc009ymk.2_RNA NM_145008 NP_659445 Q96NS1 YPEL4_HUMAN yippee-like 4 90 nucleolus 0 TGTGGTTTTGCAGCTCTCACA 0.557 4 96 --- --- --- --- PASS MEN1 4221 broad.mit.edu 37 11 64577259 64577259 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:64577259C>A uc001obj.2 - 2 396 c.323G>T c.(322-324)CGA>CTA p.R108L MEN1_uc001obk.2_Missense_Mutation_p.R108L|MEN1_uc001obl.2_Missense_Mutation_p.R108L|MEN1_uc001obm.2_Missense_Mutation_p.R108L|MEN1_uc001obn.2_Missense_Mutation_p.R108L|MEN1_uc001obo.2_Missense_Mutation_p.R108L|MEN1_uc001obp.2_Missense_Mutation_p.R108L|MEN1_uc001obq.2_Missense_Mutation_p.R108L|MEN1_uc001obr.2_Missense_Mutation_p.R108L NM_130800 NP_570712 O00255 MEN1_HUMAN menin isoform 1 108 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.R108*(2) parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1) 238 ACCCCCTTCTCGAGGATAGAG 0.612 D|Mis|N|F|S parathyroid tumors|Pancreatic neuroendocrine tumors parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1 51 28 --- --- --- --- PASS C11orf24 53838 broad.mit.edu 37 11 68029630 68029630 + Nonsense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:68029630G>C uc001onr.3 - 4 1275 c.833C>G c.(832-834)TCA>TGA p.S278* C11orf24_uc001ons.2_Nonsense_Mutation_p.S278* NM_022338 NP_071733 Q96F05 CK024_HUMAN hypothetical protein LOC53838 precursor 278 Extracellular (Potential).|Pro-rich. integral to membrane 0 GGTTGTGTTTGAGGGCATGGG 0.597 61 55 --- --- --- --- PASS TPCN2 219931 broad.mit.edu 37 11 68851475 68851475 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:68851475G>A uc001oos.2 + 19 1868 c.1752G>A c.(1750-1752)GGG>GGA p.G584G TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_RNA NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 584 Helical; Name=S5 of repeat II; (Potential). cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CGTTTGGCGGGATCCTGGTGG 0.657 28 48 --- --- --- --- PASS NOX4 50507 broad.mit.edu 37 11 89165992 89165992 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:89165992C>A uc001pct.2 - 7 747 c.508G>T c.(508-510)GTG>TTG p.V170L NOX4_uc009yvr.2_Missense_Mutation_p.V145L|NOX4_uc001pcu.2_Missense_Mutation_p.V96L|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.V170L|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.V4L|NOX4_uc009yvp.2_Missense_Mutation_p.V170L|NOX4_uc010rtv.1_Missense_Mutation_p.V146L|NOX4_uc009yvq.2_Missense_Mutation_p.V146L|NOX4_uc009yvs.1_RNA NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 170 Ferric oxidoreductase.|Helical; (Potential). cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGGAATAGCACCACCACCATG 0.338 13 10 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92533301 92533301 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:92533301G>A uc001pdj.3 + 9 7139 c.7122G>A c.(7120-7122)CTG>CTA p.L2374L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2374 Cadherin 21.|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) TCCCATCACTGAGCAGTGAGG 0.423 TCGA Ovarian(4;0.039) 23 192 --- --- --- --- PASS CNTN5 53942 broad.mit.edu 37 11 99690344 99690344 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:99690344C>G uc001pga.2 + 4 464 c.125C>G c.(124-126)TCT>TGT p.S42C CNTN5_uc009ywv.1_Missense_Mutation_p.S42C|CNTN5_uc001pfz.2_Missense_Mutation_p.S42C|CNTN5_uc001pgb.2_Intron NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 42 cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AAGAGTTCATCTTCATCTCTC 0.403 11 178 --- --- --- --- PASS CNTN5 53942 broad.mit.edu 37 11 99944898 99944898 + Silent SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:99944898G>T uc001pga.2 + 13 1791 c.1452G>T c.(1450-1452)CTG>CTT p.L484L CNTN5_uc009ywv.1_Silent_p.L484L|CNTN5_uc001pfz.2_Silent_p.L484L|CNTN5_uc001pgb.2_Silent_p.L410L NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 484 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CTTTTGCACTGAATCAACTGA 0.373 31 23 --- --- --- --- PASS MMP13 4322 broad.mit.edu 37 11 102825188 102825188 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:102825188C>A uc001phl.2 - 3 538 c.510G>T c.(508-510)AAG>AAT p.K170N NM_002427 NP_002418 P45452 MMP13_HUMAN matrix metalloproteinase 13 preproprotein 170 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) CATCATTACCCTTAATTCCAA 0.294 18 17 --- --- --- --- PASS NPAT 4863 broad.mit.edu 37 11 108043625 108043625 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:108043625C>T uc001pjz.3 - 13 2188 c.2086G>A c.(2086-2088)GAA>AAA p.E696K NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Missense_Mutation_p.E491K NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 696 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TGACTGTTTTCTACAGGAGTG 0.418 38 32 --- --- --- --- PASS EXPH5 23086 broad.mit.edu 37 11 108381581 108381581 + Missense_Mutation SNP C G G rs146274272 TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:108381581C>G uc001pkk.2 - 6 4764 c.4653G>C c.(4651-4653)GAG>GAC p.E1551D EXPH5_uc010rvy.1_Missense_Mutation_p.E1363D|EXPH5_uc010rvz.1_Missense_Mutation_p.E1395D|EXPH5_uc010rwa.1_Missense_Mutation_p.E1475D NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1551 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CCTTCCTGCTCTCTGTCATAT 0.433 21 82 --- --- --- --- PASS SIK3 23387 broad.mit.edu 37 11 116719898 116719898 + Nonsense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:116719898C>A uc001ppy.2 - 21 3475 c.3439G>T c.(3439-3441)GAG>TAG p.E1147* SIK3_uc001ppz.2_Nonsense_Mutation_p.E986*|SIK3_uc001pqa.2_Nonsense_Mutation_p.E1087*|SIK3_uc001ppw.2_Nonsense_Mutation_p.E504*|SIK3_uc001ppx.2_Nonsense_Mutation_p.E525* NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 1147 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 CTGTGGTGCTCATGGACGGAG 0.597 20 54 --- --- --- --- PASS OR10G4 390264 broad.mit.edu 37 11 123886831 123886831 + Missense_Mutation SNP C G G rs149568158 TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:123886831C>G uc010sac.1 + 1 550 c.550C>G c.(550-552)CTG>GTG p.L184V NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L184L(1) skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) ACCGCCCATCCTGAAACTGGC 0.532 167 100 --- --- --- --- PASS OR10G7 390265 broad.mit.edu 37 11 123909463 123909463 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr11:123909463G>A uc001pzq.1 - 1 246 c.246C>T c.(244-246)ACC>ACT p.T82T NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GGGACACCAAGGTCATCAGCA 0.532 136 106 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6103190 6103190 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:6103190G>C uc001qnn.1 - 37 6686 c.6436C>G c.(6436-6438)CTG>GTG p.L2146V VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2146 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) TCAGCAAACAGTGGTAAGAGG 0.602 10 62 --- --- --- --- PASS USP5 8078 broad.mit.edu 37 12 6965209 6965209 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:6965209G>A uc001qri.3 + 4 392 c.333G>A c.(331-333)GAG>GAA p.E111E USP5_uc001qrh.3_Silent_p.E111E NM_001098536 NP_001092006 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 isoform 1 111 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding lung(2)|breast(1)|skin(1) 4 ACCTTAGCGAGGAGAAGTTTG 0.512 67 174 --- --- --- --- PASS SLC2A14 144195 broad.mit.edu 37 12 7982360 7982360 + Splice_Site SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:7982360A>T uc001qtk.2 - 10 1375 c.582_splice c.e10+1 p.Q194_splice SLC2A14_uc001qtl.2_Splice_Site_p.Q171_splice|SLC2A14_uc001qtm.2_Splice_Site_p.Q171_splice|SLC2A14_uc010sgg.1_Splice_Site_p.Q85_splice|SLC2A14_uc001qtn.2_Splice_Site_p.Q194_splice|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Splice_Site_p.Q209_splice NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN glucose transporter 14 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity ovary(1) 1 Kidney(36;0.0883) GTTCTAGAGTACCTGGGCCAC 0.368 21 56 --- --- --- --- PASS A2M 2 broad.mit.edu 37 12 9242563 9242563 + Missense_Mutation SNP T C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:9242563T>C uc001qvk.1 - 21 2766 c.2653A>G c.(2653-2655)ACT>GCT p.T885A A2M_uc009zgk.1_Missense_Mutation_p.T735A NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 885 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) GGCACCTCAGTCCCACACAGC 0.428 28 192 --- --- --- --- PASS STYK1 55359 broad.mit.edu 37 12 10786662 10786662 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:10786662G>A uc001qys.2 - 4 635 c.114C>T c.(112-114)CTC>CTT p.L38L NM_018423 NP_060893 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 38 Helical; (Potential). integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 CAAGAAGGATGAGGAAGATAG 0.463 HNSCC(73;0.22) 106 235 --- --- --- --- PASS KCNJ8 3764 broad.mit.edu 37 12 21919488 21919488 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:21919488C>T uc001rff.2 - 3 782 c.444G>A c.(442-444)ATG>ATA p.M148I NM_004982 NP_004973 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel J8 148 Extracellular (By similarity). voltage-gated potassium channel complex 0 Levosimendan(DB00922) ATTCCTCTGTCATCATCCTCC 0.418 26 47 --- --- --- --- PASS ST8SIA1 6489 broad.mit.edu 37 12 22354968 22354968 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:22354968G>C uc001rfo.3 - 5 1071 c.589C>G c.(589-591)CAG>GAG p.Q197E ST8SIA1_uc009zix.2_Missense_Mutation_p.Q54E NM_003034 NP_003025 Q92185 SIA8A_HUMAN alpha-2,8-sialyltransferase 1 197 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(3) 3 AGAAGGTTCTGAAACCTATTG 0.378 9 56 --- --- --- --- PASS LRMP 4033 broad.mit.edu 37 12 25259900 25259900 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:25259900C>T uc001rgh.2 + 20 2206 c.1172C>T c.(1171-1173)TCT>TTT p.S391F LRMP_uc010sja.1_Missense_Mutation_p.S391F|LRMP_uc010sjb.1_Missense_Mutation_p.S338F|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Missense_Mutation_p.S391F|LRMP_uc010sjd.1_Missense_Mutation_p.S338F NM_006152 NP_006143 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 447 Cytoplasmic (Potential). vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) TCAGAGCCATCTGGAGAAGAA 0.308 9 21 --- --- --- --- PASS TMTC1 83857 broad.mit.edu 37 12 29670466 29670466 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:29670466G>T uc001rjb.2 - 14 2213 c.1739C>A c.(1738-1740)CCT>CAT p.P580H TMTC1_uc001riz.2_Missense_Mutation_p.P337H|TMTC1_uc001rja.2_Missense_Mutation_p.P424H|TMTC1_uc001riy.2_Missense_Mutation_p.P33H NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 688 TPR 7. integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TGCTCCCAAAGGTGACAATAT 0.468 38 150 --- --- --- --- PASS TMTC1 83857 broad.mit.edu 37 12 29904607 29904607 + Silent SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:29904607G>T uc001rjb.2 - 5 1080 c.606C>A c.(604-606)TCC>TCA p.S202S TMTC1_uc001rjc.1_Silent_p.S202S NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 310 integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) acctcatcatggaccacacag 0.368 28 81 --- --- --- --- PASS TMTC1 83857 broad.mit.edu 37 12 29904660 29904660 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:29904660G>T uc001rjb.2 - 5 1027 c.553C>A c.(553-555)CCA>ACA p.P185T TMTC1_uc001rjc.1_Missense_Mutation_p.P185T NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 293 integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GGTTCTGGTGGCAGTGGAGAG 0.418 29 67 --- --- --- --- PASS DENND5B 160518 broad.mit.edu 37 12 31604942 31604942 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:31604942C>A uc001rki.1 - 5 1747 c.1561G>T c.(1561-1563)GTC>TTC p.V521F DENND5B_uc001rkh.1_Missense_Mutation_p.V556F|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Missense_Mutation_p.V543F|DENND5B_uc001rkk.1_Missense_Mutation_p.V443F NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 521 dDENN. integral to membrane ovary(1)|central_nervous_system(1) 2 GTCTGAATGACAAATGCTTCG 0.443 43 73 --- --- --- --- PASS KIF21A 55605 broad.mit.edu 37 12 39752079 39752079 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:39752079C>G uc001rly.2 - 8 1262 c.1116G>C c.(1114-1116)AAG>AAC p.K372N KIF21A_uc001rlx.2_Missense_Mutation_p.K372N|KIF21A_uc001rlz.2_Missense_Mutation_p.K372N|KIF21A_uc010skl.1_Missense_Mutation_p.K372N|KIF21A_uc001rma.1_Missense_Mutation_p.K380N NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 372 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) TCACCTTATTCTTGATATTTC 0.423 89 226 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40618961 40618961 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:40618961G>A uc001rmg.3 + 1 149 c.28G>A c.(28-30)GAA>AAA p.E10K NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 10 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TCAGGGGTGCGAAGAGGACGA 0.582 13 45 --- --- --- --- PASS CCNT1 904 broad.mit.edu 37 12 49087619 49087619 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:49087619G>C uc001rse.1 - 9 1701 c.1378C>G c.(1378-1380)CTC>GTC p.L460V LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.L175V NM_001240 NP_001231 O60563 CCNT1_HUMAN cyclin T1 460 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding ovary(3)|lung(1)|breast(1)|skin(1) 6 CTCATTTTGAGAGCTGTTTTG 0.443 36 92 --- --- --- --- PASS WNT10B 7480 broad.mit.edu 37 12 49360170 49360170 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:49360170C>A uc001rss.2 - 5 1224 c.878G>T c.(877-879)GGA>GTA p.G293V WNT10B_uc001rst.2_3'UTR NM_003394 NP_003385 O00744 WN10B_HUMAN wingless-type MMTV integration site family, 293 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity skin(4)|lung(3) 7 CTGGAAGGCTCCAGAATTGCG 0.637 43 108 --- --- --- --- PASS KRT6C 286887 broad.mit.edu 37 12 52863615 52863615 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:52863615C>A uc001sal.3 - 7 1311 c.1263G>T c.(1261-1263)AAG>AAT p.K421N NM_173086 NP_775109 P48668 K2C6C_HUMAN keratin 6C 421 Rod.|Coil 2. cytoskeleton organization keratin filament structural molecule activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0828) TCTTAGCATCCTTGAGTGCCA 0.577 18 68 --- --- --- --- PASS KRT76 51350 broad.mit.edu 37 12 53170983 53170983 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:53170983G>T uc001sax.2 - 1 147 c.93C>A c.(91-93)AGC>AGA p.S31R NM_015848 NP_056932 Q01546 K22O_HUMAN keratin 76 31 Head. cytoskeleton organization keratin filament structural molecule activity breast(1)|skin(1) 2 GGGCCACACAGCTCATCCTGC 0.607 44 75 --- --- --- --- PASS ITGB7 3695 broad.mit.edu 37 12 53589169 53589169 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:53589169C>T uc009zmv.2 - 8 1221 c.1150G>A c.(1150-1152)GAT>AAT p.D384N ITGB7_uc001scc.2_Missense_Mutation_p.D384N|ITGB7_uc010snz.1_RNA NM_000889 NP_000880 P26010 ITB7_HUMAN integrin, beta 7 precursor 384 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1) 8 TTATAAGCATCCATGATGAGC 0.552 21 86 --- --- --- --- PASS AMHR2 269 broad.mit.edu 37 12 53818661 53818661 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:53818661C>G uc001scx.1 + 3 479 c.401C>G c.(400-402)TCC>TGC p.S134C AMHR2_uc009zmy.1_Missense_Mutation_p.S134C NM_020547 NP_065434 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II isoform 134 Extracellular (Potential). Mullerian duct regression ATP binding|hormone binding|metal ion binding ovary(1)|skin(1) 2 Adenosine triphosphate(DB00171) ACTCCTGGCTCCCAGGGTCCC 0.632 Persistant_Mullerian_Duct_Syndrome_(type_I_and_II) 45 136 --- --- --- --- PASS HNRNPA1 3178 broad.mit.edu 37 12 54676268 54676268 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:54676268G>C uc001sfl.2 + 5 685 c.581G>C c.(580-582)AGA>ACA p.R194T CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.R194T|HNRNPA1_uc009zng.2_Missense_Mutation_p.R194T|HNRNPA1_uc009znh.2_Missense_Mutation_p.R194T|HNRNPA1_uc009zni.2_Missense_Mutation_p.R194T|HNRNPA1_uc001sfn.2_Missense_Mutation_p.R194T|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.R149T|HNRNPA1_uc009znj.1_Missense_Mutation_p.R149T NM_031157 NP_112420 P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 194 interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding skin(2)|ovary(1) 3 TCCAGCCAAAGAGGTATGCTT 0.368 8 42 --- --- --- --- PASS OR6C65 403282 broad.mit.edu 37 12 55794865 55794865 + Missense_Mutation SNP A G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:55794865A>G uc010spl.1 + 1 553 c.553A>G c.(553-555)ATT>GTT p.I185V NM_001005518 NP_001005518 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, 185 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TATGCTGCTGATTGCTTGCAC 0.443 121 292 --- --- --- --- PASS GLI1 2735 broad.mit.edu 37 12 57857555 57857555 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:57857555C>A uc001snx.2 + 2 159 c.81C>A c.(79-81)GCC>GCA p.A27A GLI1_uc009zpp.2_Intron|GLI1_uc009zpq.2_Intron|GLI1_uc009zpr.1_Intron NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 27 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) GTCAGGGGGCCCCCAGTGTGG 0.607 21 39 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70981033 70981033 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:70981033G>T uc001swb.3 - 7 1441 c.1411C>A c.(1411-1413)CTC>ATC p.L471I PTPRB_uc010sto.1_Missense_Mutation_p.L471I|PTPRB_uc010stp.1_Missense_Mutation_p.L381I|PTPRB_uc001swc.3_Missense_Mutation_p.L689I|PTPRB_uc001swa.3_Missense_Mutation_p.L689I|PTPRB_uc001swd.3_Missense_Mutation_p.L688I|PTPRB_uc009zrr.1_Missense_Mutation_p.L568I NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 471 Fibronectin type-III 6.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CGAAGCTGGAGGACAGCCAGG 0.468 12 58 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78362332 78362332 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:78362332G>A uc001syp.2 + 5 694 c.521G>A c.(520-522)GGG>GAG p.G174E NAV3_uc001syo.2_Missense_Mutation_p.G174E NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 174 CH. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GCCATTCTAGGGCTGTTTTTC 0.348 HNSCC(70;0.22) 24 73 --- --- --- --- PASS MYF6 4618 broad.mit.edu 37 12 81101810 81101810 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:81101810G>A uc001szf.1 + 1 365 c.312G>A c.(310-312)AGG>AGA p.R104R NM_002469 NP_002460 P23409 MYF6_HUMAN myogenic factor 6 104 Basic motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 GCGAAAGGAGGAGGCTAAAGA 0.607 30 67 --- --- --- --- PASS RASSF9 9182 broad.mit.edu 37 12 86199572 86199572 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:86199572C>T uc001taf.1 - 2 555 c.216G>A c.(214-216)GGG>GGA p.G72G NM_005447 NP_005438 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family 72 Ras-associating. endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity ovary(1) 1 CACTGGGCTTCCCCAGAAGAA 0.498 32 199 --- --- --- --- PASS TMCC3 57458 broad.mit.edu 37 12 94965215 94965215 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:94965215C>G uc001tdj.2 - 4 1548 c.1430G>C c.(1429-1431)AGA>ACA p.R477T TMCC3_uc001tdi.2_Missense_Mutation_p.R446T NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 477 integral to membrane ovary(1)|skin(1) 2 GTGGCTTCATCTTGGTATTAT 0.388 20 63 --- --- --- --- PASS VEZT 55591 broad.mit.edu 37 12 95611648 95611648 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:95611648G>C uc001tdz.2 + 1 127 c.22G>C c.(22-24)GAG>CAG p.E8Q FGD6_uc001tdp.3_5'Flank|FGD6_uc009zsx.2_5'Flank|VEZT_uc009zsy.1_5'UTR|VEZT_uc001tdr.2_5'UTR|VEZT_uc001tds.2_5'UTR|VEZT_uc001tdt.2_5'UTR|VEZT_uc009zsz.1_Missense_Mutation_p.E8Q|VEZT_uc001tdv.2_5'UTR|VEZT_uc001tdw.1_5'Flank NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane 8 acrosomal vesicle|adherens junction|integral to membrane|nucleus ovary(1) 1 GTTTGACGAAGAGGTGGTTTT 0.582 33 79 --- --- --- --- PASS SNRPF 6636 broad.mit.edu 37 12 96259141 96259141 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:96259141G>A uc001tej.2 + 3 312 c.169G>A c.(169-171)GGA>AGA p.G57R NM_003095 NP_003086 P62306 RUXF_HUMAN small nuclear ribonucleoprotein polypeptide F 57 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding 0 AGCTTTGTCTGGACATCTGGG 0.328 41 115 --- --- --- --- PASS ANO4 121601 broad.mit.edu 37 12 101436227 101436227 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:101436227C>G uc010svm.1 + 12 1707 c.1135C>G c.(1135-1137)CTG>GTG p.L379V ANO4_uc001thw.2_Missense_Mutation_p.L344V|ANO4_uc001thx.2_Missense_Mutation_p.L379V NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 379 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 CGTCACCACTCTGGATCACAG 0.483 HNSCC(74;0.22) 28 98 --- --- --- --- PASS KIAA1033 23325 broad.mit.edu 37 12 105543464 105543464 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:105543464C>G uc001tld.2 + 25 2673 c.2586C>G c.(2584-2586)ATC>ATG p.I862M KIAA1033_uc010swr.1_Missense_Mutation_p.I863M|KIAA1033_uc010sws.1_Missense_Mutation_p.I674M NM_015275 NP_056090 Q2M389 WAHS7_HUMAN hypothetical protein LOC23325 862 endosome transport WASH complex kidney(1)|central_nervous_system(1) 2 ATGAACACATCAAATCCAGAT 0.254 60 156 --- --- --- --- PASS RIC8B 55188 broad.mit.edu 37 12 107279770 107279770 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:107279770G>C uc001tlx.2 + 9 1665 c.1540G>C c.(1540-1542)GAG>CAG p.E514Q RIC8B_uc001tly.2_3'UTR|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA NM_018157 NP_060627 Q9NVN3 RIC8B_HUMAN resistance to inhibitors of cholinesterase 8 514 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity ovary(1) 1 TGTCATCGAAGAGACCAGCTC 0.433 31 142 --- --- --- --- PASS FOXN4 121643 broad.mit.edu 37 12 109724503 109724503 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:109724503G>A uc001toe.3 - 7 748 c.643C>T c.(643-645)CCT>TCT p.P215S FOXN4_uc009zvg.2_Missense_Mutation_p.P12S|FOXN4_uc001tof.3_Missense_Mutation_p.P35S NM_213596 NP_998761 Q96NZ1 FOXN4_HUMAN forkhead box N4 215 Fork-head. axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(1)|lung(1) 2 TCGCTCACAGGCAGGCTGCCT 0.483 7 22 --- --- --- --- PASS TCTN1 79600 broad.mit.edu 37 12 111066671 111066671 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:111066671C>T uc009zvs.2 + 4 680 c.572C>T c.(571-573)TCA>TTA p.S191L TCTN1_uc010syb.1_Missense_Mutation_p.S191L|TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.S131L|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.S191L|TCTN1_uc001trn.3_Missense_Mutation_p.S191L|TCTN1_uc001tri.2_Missense_Mutation_p.S135L|TCTN1_uc001trj.1_Missense_Mutation_p.S135L|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron NM_001082537 NP_001076006 Q2MV58 TECT1_HUMAN tectonic family member 1 isoform 2 191 multicellular organismal development extracellular region 0 AATGCTGAATCATATGTTTCC 0.333 28 52 --- --- --- --- PASS C12orf51 283450 broad.mit.edu 37 12 112617177 112617177 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:112617177C>G uc009zwc.2 - 56 9764 c.9746G>C c.(9745-9747)AGA>ACA p.R3249T NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 CAGAACCTCTCTGGCTCCGGG 0.537 7 19 --- --- --- --- PASS RPH3A 22895 broad.mit.edu 37 12 113325651 113325651 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:113325651G>A uc010syl.1 + 17 1848 c.1486G>A c.(1486-1488)GAG>AAG p.E496K RPH3A_uc001ttz.2_Missense_Mutation_p.E496K|RPH3A_uc001tty.2_Missense_Mutation_p.E492K|RPH3A_uc009zwe.1_Missense_Mutation_p.E492K|RPH3A_uc010sym.1_Missense_Mutation_p.E447K|RPH3A_uc001tua.2_Missense_Mutation_p.E256K NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 496 C2 1. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) ATTTATTGGTGAGACCAGATT 0.458 31 223 --- --- --- --- PASS DDX54 79039 broad.mit.edu 37 12 113617062 113617062 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:113617062G>T uc001tup.2 - 4 478 c.450C>A c.(448-450)TTC>TTA p.F150L DDX54_uc001tuq.3_Missense_Mutation_p.F150L NM_024072 NP_076977 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 150 Helicase ATP-binding. estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity skin(2)|central_nervous_system(1) 3 TTGGGAGGAGGAAGCAGGCTG 0.657 12 32 --- --- --- --- PASS TBX3 6926 broad.mit.edu 37 12 115110029 115110029 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:115110029C>T uc001tvt.1 - 8 2813 c.1849G>A c.(1849-1851)GCG>ACG p.A617T TBX3_uc001tvu.1_Missense_Mutation_p.A597T NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 617 Transcription repression. SAAASSSVHRHPF -> LRQPQLRCTAPL (in Ref. 1). anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) GAGGCTGCCGCAGAGGAGGCG 0.667 5 7 --- --- --- --- PASS PXN 5829 broad.mit.edu 37 12 120660757 120660757 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:120660757C>T uc001txt.2 - 4 533 c.402G>A c.(400-402)ATG>ATA p.M134I PXN_uc001txv.2_Missense_Mutation_p.M1I|PXN_uc001txx.2_Missense_Mutation_p.M1I|PXN_uc001txy.2_Missense_Mutation_p.M134I|PXN_uc001txz.2_RNA|uc001tya.2_5'Flank NM_001080855 NP_001074324 P49023 PAXI_HUMAN paxillin isoform 1 134 cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding ovary(1)|breast(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGACGTGCTCATTACGGTGG 0.547 21 70 --- --- --- --- PASS ZCCHC8 55596 broad.mit.edu 37 12 122958049 122958049 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:122958049C>G uc001ucn.2 - 14 2250 c.2119G>C c.(2119-2121)GAA>CAA p.E707Q ZCCHC8_uc001ucl.2_Missense_Mutation_p.E318Q|ZCCHC8_uc001ucm.2_Missense_Mutation_p.E469Q|ZCCHC8_uc009zxp.2_Missense_Mutation_p.E469Q|ZCCHC8_uc009zxq.2_Missense_Mutation_p.E469Q NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 707 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) AGCCATTATTCAGAGGCCTTT 0.368 13 54 --- --- --- --- PASS MPHOSPH9 10198 broad.mit.edu 37 12 123687559 123687559 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr12:123687559G>A uc001uel.2 - 6 1044 c.937C>T c.(937-939)CCG>TCG p.P313S MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 313 M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) AGGGCATTCGGAAGGCCGTGA 0.458 75 169 --- --- --- --- PASS N4BP2L1 90634 broad.mit.edu 37 13 33002142 33002142 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr13:33002142G>A uc001uuc.2 - 1 174 c.78C>T c.(76-78)CCC>CCT p.P26P N4BP2L1_uc001uud.2_Silent_p.P26P|N4BP2L1_uc010tdy.1_Silent_p.P26P|N4BP2L1_uc001uuf.2_Silent_p.P26P NM_052818 NP_438169 Q5TBK1 N42L1_HUMAN NEDD4 binding protein 2-like 1 isoform 1 26 cell killing ATP binding ovary(1) 1 Lung SC(185;0.0262) all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171) ggggcggccggggcggccgct 0.468 5 6 --- --- --- --- PASS MAB21L1 4081 broad.mit.edu 37 13 36049686 36049686 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr13:36049686G>T uc001uvc.2 - 1 1147 c.590C>A c.(589-591)CCC>CAC p.P197H NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN mab-21-like protein 1 197 anatomical structure morphogenesis nucleus ovary(2) 2 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) CACCCGGTTGGGTCCCGGCCA 0.642 28 47 --- --- --- --- PASS LRCH1 23143 broad.mit.edu 37 13 47127780 47127780 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr13:47127780G>C uc001vbj.2 + 1 485 c.249G>C c.(247-249)TTG>TTC p.L83F LRCH1_uc010acp.2_Missense_Mutation_p.L83F|LRCH1_uc001vbk.2_Missense_Mutation_p.L83F|LRCH1_uc001vbl.3_Missense_Mutation_p.L83F NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 83 ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) CCAGGAAATTGAAGGAATTTC 0.692 5 8 --- --- --- --- PASS OR4K14 122740 broad.mit.edu 37 14 20482684 20482684 + Silent SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:20482684G>T uc010tky.1 - 1 669 c.669C>A c.(667-669)CTC>CTA p.L223L NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) TGATAGCGAGGAGGATCACGG 0.498 11 39 --- --- --- --- PASS JPH4 84502 broad.mit.edu 37 14 24040504 24040504 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:24040504G>A uc001wkq.2 - 6 2354 c.1436C>T c.(1435-1437)CCA>CTA p.P479L JPH4_uc010tnr.1_Missense_Mutation_p.P144L|JPH4_uc001wkr.2_Missense_Mutation_p.P479L NM_032452 NP_115828 Q96JJ6 JPH4_HUMAN junctophilin 4 479 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane ovary(1)|pancreas(1) 2 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) AGGAGGCAGTGGGCTCCGGCA 0.667 28 73 --- --- --- --- PASS TGM1 7051 broad.mit.edu 37 14 24724586 24724586 + Silent SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:24724586G>C uc001wod.2 - 11 1753 c.1629C>G c.(1627-1629)CTC>CTG p.L543L TGM1_uc010tog.1_Silent_p.L101L NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 543 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) GGTGCTTATAGAGGTAGGTGA 0.542 16 31 --- --- --- --- PASS AKAP6 9472 broad.mit.edu 37 14 33293734 33293734 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:33293734G>T uc001wrq.2 + 13 6885 c.6715G>T c.(6715-6717)GCA>TCA p.A2239S NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 2239 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CAGTGGCTGTGCAGAAAACTT 0.448 13 53 --- --- --- --- PASS PAX9 5083 broad.mit.edu 37 14 37132112 37132112 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:37132112C>T uc001wty.3 + 3 732 c.15C>T c.(13-15)TTC>TTT p.F5F NM_006194 NP_006185 P55771 PAX9_HUMAN paired box 9 5 Paired. multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) AGCCAGCCTTCGGGGAGGTGA 0.662 32 76 --- --- --- --- PASS MIPOL1 145282 broad.mit.edu 37 14 37717107 37717107 + Nonsense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:37717107C>G uc001wuc.2 + 4 517 c.14C>G c.(13-15)TCA>TGA p.S5* MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_5'UTR|MIPOL1_uc001wud.2_Nonsense_Mutation_p.S5*|MIPOL1_uc010ams.2_Nonsense_Mutation_p.S5*|MIPOL1_uc001wue.2_5'UTR|MIPOL1_uc010amt.2_Intron NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 5 ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) GAGAACTGGTCAAAAGGTAAG 0.373 14 37 --- --- --- --- PASS KLHL28 54813 broad.mit.edu 37 14 45414864 45414864 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:45414864C>A uc001wvq.2 - 2 514 c.268G>T c.(268-270)GTG>TTG p.V90L KLHL28_uc001wvr.2_Missense_Mutation_p.V90L|KLHL28_uc001wvt.3_Missense_Mutation_p.V90L NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 90 BTB. ovary(1) 1 GCATACTCCACAATGGCCTGG 0.428 25 56 --- --- --- --- PASS KTN1 3895 broad.mit.edu 37 14 56138564 56138564 + Missense_Mutation SNP A C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:56138564A>C uc001xcb.2 + 38 3802 c.3500A>C c.(3499-3501)AAG>ACG p.K1167T KTN1_uc001xce.2_Missense_Mutation_p.K1138T|KTN1_uc001xcc.2_Missense_Mutation_p.K1167T|KTN1_uc001xcd.2_Missense_Mutation_p.K1144T|KTN1_uc010trb.1_Missense_Mutation_p.K1167T|KTN1_uc001xcf.1_Missense_Mutation_p.K1144T|KTN1_uc010aoq.2_Missense_Mutation_p.K433T|KTN1_uc010trc.1_Missense_Mutation_p.K172T|KTN1_uc001xcg.2_Missense_Mutation_p.K128T NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 1167 Lumenal (Potential).|Potential. microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 TGGAAAGTTAAGGTCGATGAA 0.249 T RET papillary thryoid 24 69 --- --- --- --- PASS KIAA0586 9786 broad.mit.edu 37 14 58915116 58915116 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:58915116C>T uc001xdv.3 + 7 1139 c.866C>T c.(865-867)TCC>TTC p.S289F KIAA0586_uc010trr.1_Missense_Mutation_p.S330F|KIAA0586_uc001xdt.3_Missense_Mutation_p.S245F|KIAA0586_uc001xdu.3_Missense_Mutation_p.S274F|KIAA0586_uc010trs.1_Missense_Mutation_p.S204F|KIAA0586_uc010trt.1_Missense_Mutation_p.S149F|KIAA0586_uc010tru.1_Missense_Mutation_p.S149F NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 289 ovary(1) 1 AGTATGCCCTCCTCCAGAGCA 0.338 43 101 --- --- --- --- PASS PPM1A 5494 broad.mit.edu 37 14 60749451 60749451 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:60749451G>A uc010apn.2 + 3 432 c.30G>A c.(28-30)ATG>ATA p.M10I PPM1A_uc001xew.3_Missense_Mutation_p.M83I|PPM1A_uc001xex.3_Missense_Mutation_p.M10I|PPM1A_uc001xey.3_Missense_Mutation_p.M10I NM_021003 NP_066283 P35813 PPM1A_HUMAN protein phosphatase 1A isoform 1 10 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.046) AGCCAAAGATGGAAAAGCATA 0.443 76 171 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64444689 64444689 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:64444689C>T uc001xgm.2 + 13 1590 c.1360C>T c.(1360-1362)CAC>TAC p.H454Y SYNE2_uc001xgl.2_Missense_Mutation_p.H454Y NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 454 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GGATGAAAATCACTTGCCATT 0.378 18 46 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64676674 64676674 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:64676674G>C uc001xgm.2 + 103 18785 c.18555G>C c.(18553-18555)CAG>CAC p.Q6185H SYNE2_uc001xgl.2_Missense_Mutation_p.Q6185H|SYNE2_uc010apy.2_Missense_Mutation_p.Q2570H|SYNE2_uc001xgn.2_Missense_Mutation_p.Q1147H|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.Q155H|SYNE2_uc001xgq.2_Missense_Mutation_p.Q550H|SYNE2_uc001xgr.2_5'UTR NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6185 Spectrin 7.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTCAGCGGCAGATTCATGAGC 0.617 29 60 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71413810 71413810 + Nonsense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:71413810C>A uc001xmo.2 + 2 778 c.332C>A c.(331-333)TCA>TAA p.S111* PCNX_uc001xmn.3_Nonsense_Mutation_p.S111*|PCNX_uc010are.1_Nonsense_Mutation_p.S111* NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 111 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GGCAACTGTTCAACCAGGAGA 0.403 12 22 --- --- --- --- PASS JDP2 122953 broad.mit.edu 37 14 75936092 75936092 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:75936092C>T uc010asj.2 + 4 473 c.406C>T c.(406-408)CGC>TGC p.R136C JDP2_uc010tvb.1_Missense_Mutation_p.R136C|JDP2_uc010tvc.1_Missense_Mutation_p.R136C|JDP2_uc001xrq.2_Missense_Mutation_p.R147C NM_001135047 NP_001128519 Q8WYK2 JDP2_HUMAN Jun dimerization protein 2 isoform a 136 nucleus sequence-specific DNA binding 0 BRCA - Breast invasive adenocarcinoma(234;0.0296) GAACCGACACCGCCCCACCTG 0.592 15 52 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102478379 102478379 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:102478379C>T uc001yks.2 + 33 6950 c.6786C>T c.(6784-6786)GAC>GAT p.D2262D NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2262 AAA 2 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TCAGCAAAGACCACCTCTACG 0.547 14 61 --- --- --- --- PASS PPP1R13B 23368 broad.mit.edu 37 14 104208264 104208264 + Nonsense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:104208264G>C uc001yof.1 - 11 1968 c.1685C>G c.(1684-1686)TCA>TGA p.S562* PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Nonsense_Mutation_p.S429* NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 562 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) CTGTGGCCTTGACCCTTTATC 0.552 54 97 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107035121 107035121 + RNA SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr14:107035121G>C uc010tyt.1 - 153 c.7193C>G uc001ysz.2_Silent_p.L14L Parts of antibodies, mostly variable regions. 0 ACTGACCTTGGAGAACAGCCA 0.582 4 31 --- --- --- --- PASS MKRN3 7681 broad.mit.edu 37 15 23811409 23811409 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:23811409C>A uc001ywh.3 + 1 956 c.480C>A c.(478-480)CCC>CCA p.P160P MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.P160P NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 160 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) CGGAAGCCCCCCCGGCTGCAT 0.647 16 32 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26825604 26825604 + Splice_Site SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:26825604C>T uc001zaz.2 - 6 687 c.545_splice c.e6-1 p.Y182_splice GABRB3_uc010uae.1_Splice_Site_p.Y97_splice|GABRB3_uc001zba.2_Splice_Site_p.Y182_splice|GABRB3_uc001zbb.2_Splice_Site_p.Y238_splice NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GTGTAGCCATCTGCCAAGAGA 0.493 32 44 --- --- --- --- PASS GABRG3 2567 broad.mit.edu 37 15 27772743 27772743 + Nonsense_Mutation SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:27772743A>T uc001zbg.1 + 8 1196 c.1030A>T c.(1030-1032)AGA>TGA p.R344* NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 344 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) TTCCAGCTGTAGAAAACCAAC 0.517 9 15 --- --- --- --- PASS CAPN3 825 broad.mit.edu 37 15 42681211 42681211 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:42681211G>A uc001zpn.1 + 5 1024 c.718G>A c.(718-720)GAG>AAG p.E240K CAPN3_uc001zpk.1_Missense_Mutation_p.E13K|CAPN3_uc001zpl.1_Missense_Mutation_p.E153K|CAPN3_uc010udf.1_Missense_Mutation_p.E153K|CAPN3_uc010udg.1_Missense_Mutation_p.E153K|CAPN3_uc001zpo.1_Missense_Mutation_p.E240K|CAPN3_uc001zpp.1_Missense_Mutation_p.E240K NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 240 Calpain catalytic. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) AGAGTTTTTTGAGATCAGGGA 0.522 61 69 --- --- --- --- PASS UBR1 197131 broad.mit.edu 37 15 43262764 43262764 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:43262764G>A uc001zqq.2 - 40 4477 c.4411C>T c.(4411-4413)CAT>TAT p.H1471Y NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1471 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) GATGCGGAATGAGCCTCTTCA 0.358 33 123 --- --- --- --- PASS UBR1 197131 broad.mit.edu 37 15 43262791 43262791 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:43262791G>C uc001zqq.2 - 40 4450 c.4384C>G c.(4384-4386)CAG>GAG p.Q1462E NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1462 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) TCTTGAACCTGAGCAAGGGGT 0.353 28 101 --- --- --- --- PASS UBR1 197131 broad.mit.edu 37 15 43313514 43313514 + Nonsense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:43313514G>A uc001zqq.2 - 27 2965 c.2899C>T c.(2899-2901)CAG>TAG p.Q967* UBR1_uc010udk.1_Nonsense_Mutation_p.Q967* NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 967 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) CCTTCTAACTGGGGAATTCCT 0.313 70 70 --- --- --- --- PASS KIAA1370 56204 broad.mit.edu 37 15 52901085 52901085 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:52901085C>G uc002acg.3 - 6 2179 c.2026G>C c.(2026-2028)GAT>CAT p.D676H KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.D588H|KIAA1370_uc010ugf.1_Missense_Mutation_p.D683H NM_019600 NP_062546 Q32MH5 K1370_HUMAN hypothetical protein LOC56204 676 0 all cancers(107;0.0803) TTGGAATCATCAGACTGAAGA 0.274 10 50 --- --- --- --- PASS MNS1 55329 broad.mit.edu 37 15 56748594 56748594 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:56748594G>T uc002adr.2 - 3 516 c.351C>A c.(349-351)AAC>AAA p.N117K MNS1_uc010bfo.2_Intron NM_018365 NP_060835 Q8NEH6 MNS1_HUMAN meiosis-specific nuclear structural 1 117 Potential.|Glu-rich. meiosis ovary(1) 1 all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101) CAAGATACCTGTTTTCTCTTA 0.323 11 44 --- --- --- --- PASS HERC1 8925 broad.mit.edu 37 15 64010802 64010802 + Nonsense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:64010802G>A uc002amp.2 - 21 4097 c.3949C>T c.(3949-3951)CAA>TAA p.Q1317* HERC1_uc010uil.1_Intron NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 1317 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 GACCTTGTTTGAATAAGTTCA 0.358 5 12 --- --- --- --- PASS SPG21 51324 broad.mit.edu 37 15 65273231 65273231 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:65273231G>C uc002aod.2 - 3 289 c.196C>G c.(196-198)CTG>GTG p.L66V SPG21_uc002aoe.2_Missense_Mutation_p.L66V|SPG21_uc010bhb.2_Missense_Mutation_p.L66V|SPG21_uc010bhc.2_5'UTR NM_001127889 NP_001121361 Q9NZD8 SPG21_HUMAN spastic paraplegia 21 isoform a 66 cell death cytosol|endosome membrane|trans-Golgi network transport vesicle CD4 receptor binding 0 CATCCAGTCAGAGCCAAAATC 0.463 15 49 --- --- --- --- PASS ISL2 64843 broad.mit.edu 37 15 76633489 76633489 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:76633489G>A uc002bbw.1 + 5 888 c.810G>A c.(808-810)CTG>CTA p.L270L NM_145805 NP_665804 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 270 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TTCAGGGACTGACTGGGACGC 0.647 21 19 --- --- --- --- PASS IL16 3603 broad.mit.edu 37 15 81585375 81585375 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:81585375C>T uc002bgh.3 + 12 2275 c.1899C>T c.(1897-1899)GGC>GGT p.G633G IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Intron|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.G675G|IL16_uc002bgg.2_Silent_p.G633G|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Silent_p.G127G|IL16_uc002bgk.2_5'Flank NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 633 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 CCACCTGTGGCCAGGTAAGAG 0.498 7 46 --- --- --- --- PASS C15orf40 123207 broad.mit.edu 37 15 83679055 83679055 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:83679055C>T uc010uoo.1 - 2 206 c.172G>A c.(172-174)GAT>AAT p.D58N C15orf40_uc010uon.1_Missense_Mutation_p.D58N|C15orf40_uc002bjm.2_Missense_Mutation_p.D58N|C15orf40_uc010uop.1_Missense_Mutation_p.D58N|C15orf40_uc010uoq.1_RNA|C15orf40_uc010uor.1_Missense_Mutation_p.D58N NM_001160115 NP_001153587 Q8WUR7 CO040_HUMAN hypothetical protein LOC123207 isoform d 31 skin(1) 1 CCTTTAGGATCAACTGCCACA 0.463 25 148 --- --- --- --- PASS ADAMTSL3 57188 broad.mit.edu 37 15 84558983 84558983 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:84558983G>C uc002bjz.3 + 11 1419 c.1195G>C c.(1195-1197)GAT>CAT p.D399H ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D399H|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.D399H NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 399 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) ATGCAGCATGGATCCCTGCCC 0.413 15 56 --- --- --- --- PASS ADAMTSL3 57188 broad.mit.edu 37 15 84611357 84611357 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:84611357G>A uc002bjz.3 + 18 2351 c.2127G>A c.(2125-2127)GTG>GTA p.V709V ADAMTSL3_uc010bmt.1_Silent_p.V709V|ADAMTSL3_uc010bmu.1_Silent_p.V709V NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 709 TSP type-1 5. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) GGTGGCATGTGGGCTCTTGGG 0.547 11 87 --- --- --- --- PASS ANPEP 290 broad.mit.edu 37 15 90334279 90334279 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr15:90334279G>T uc002bop.3 - 19 2866 c.2574C>A c.(2572-2574)GAC>GAA p.D858E NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 858 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TAGAGGTGGCGTCCTGCTTCC 0.512 22 96 --- --- --- --- PASS CASKIN1 57524 broad.mit.edu 37 16 2233646 2233646 + Splice_Site SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr16:2233646C>A uc010bsg.1 - 16 1661 c.1629_splice c.e16+1 p.P543_splice NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 signal transduction cytoplasm skin(2) 2 GGTGGCCTTACGGGTTTGTGC 0.577 18 22 --- --- --- --- PASS VWA3A 146177 broad.mit.edu 37 16 22143039 22143039 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr16:22143039G>T uc010vbq.1 + 19 1957 c.1861G>T c.(1861-1863)GAC>TAC p.D621Y VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Missense_Mutation_p.D629Y NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 621 VWFA 1. extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) GGGCATCCCCGACCAGGACAT 0.562 16 16 --- --- --- --- PASS ATXN2L 11273 broad.mit.edu 37 16 28844802 28844802 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr16:28844802C>G uc002drc.2 + 15 2166 c.1998C>G c.(1996-1998)TTC>TTG p.F666L uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.F666L|ATXN2L_uc002dqy.2_Missense_Mutation_p.F666L|ATXN2L_uc002dra.2_Missense_Mutation_p.F666L|ATXN2L_uc002dqz.2_Missense_Mutation_p.F666L|ATXN2L_uc010vdb.1_Missense_Mutation_p.F672L|ATXN2L_uc002dre.2_Missense_Mutation_p.F666L|ATXN2L_uc002drf.2_Missense_Mutation_p.F75L|ATXN2L_uc002drg.2_5'Flank NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 666 membrane upper_aerodigestive_tract(1)|ovary(1) 2 CTAAGGAGTTCAATCCTACAA 0.473 21 20 --- --- --- --- PASS ADCY7 113 broad.mit.edu 37 16 50326585 50326585 + Splice_Site SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr16:50326585A>T uc002egd.1 + 4 806 c.538_splice c.e4-2 p.L180_splice ADCY7_uc002egb.1_Splice_Site_p.L180_splice|ADCY7_uc002egc.1_Splice_Site_p.L180_splice NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) GTCTACCCGCAGCTGCTGGCC 0.602 37 48 --- --- --- --- PASS COG4 25839 broad.mit.edu 37 16 70524265 70524265 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr16:70524265C>T uc002ezc.2 - 13 1689 c.1678G>A c.(1678-1680)GAA>AAA p.E560K COG4_uc002eza.2_5'UTR|COG4_uc002ezb.2_Intron|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Intron|COG4_uc002eze.2_Missense_Mutation_p.E254K NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 556 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) GAGATGTTTTCACTGCAGACT 0.507 30 46 --- --- --- --- PASS MAF 4094 broad.mit.edu 37 16 79633671 79633671 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr16:79633671G>A uc002ffn.2 - 1 952 c.129C>T c.(127-129)ATC>ATT p.I43I MAF_uc002ffm.2_Silent_p.I43I NM_001031804 NP_001026974 O75444 MAF_HUMAN v-maf musculoaponeurotic fibrosarcoma oncogene 43 transcription from RNA polymerase II promoter chromatin|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211) UCEC - Uterine corpus endometrioid carcinoma (2;0.0178) CGCACTGGCTGATGATGCGGT 0.622 T IGH@ MM 23 29 --- --- --- --- PASS RNMTL1 55178 broad.mit.edu 37 17 685696 685696 + Silent SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:685696G>T uc002frw.2 + 1 184 c.78G>T c.(76-78)GCG>GCT p.A26A GLOD4_uc002fru.2_5'Flank|GLOD4_uc010vqc.1_5'Flank|GLOD4_uc002frv.2_5'Flank NM_018146 NP_060616 Q9HC36 RMTL1_HUMAN RNA methyltransferase like 1 26 RNA processing protein binding|RNA binding|RNA methyltransferase activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0219) ACCTTGACGCGAGGCGCTGGG 0.677 23 34 --- --- --- --- PASS OR3A1 4994 broad.mit.edu 37 17 3195848 3195848 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:3195848G>T uc002fvh.1 - 1 29 c.29C>A c.(28-30)ACA>AAA p.T10K NM_002550 NP_002541 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|central_nervous_system(1) 3 AGCAATGACTGTTCCATTGGC 0.502 23 55 --- --- --- --- PASS NLRP1 22861 broad.mit.edu 37 17 5421084 5421084 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:5421084C>T uc002gci.2 - 15 4594 c.4039G>A c.(4039-4041)GAG>AAG p.E1347K NLRP1_uc002gcg.1_Missense_Mutation_p.E1351K|NLRP1_uc002gck.2_Missense_Mutation_p.E1303K|NLRP1_uc002gcj.2_Missense_Mutation_p.E1317K|NLRP1_uc002gcl.2_Missense_Mutation_p.E1273K|NLRP1_uc002gch.3_Missense_Mutation_p.E1303K NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 1347 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) ACCAAGGCCTCCCACACCAGA 0.448 17 136 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577088 7577088 + Missense_Mutation SNP T G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:7577088T>G uc002gim.2 - 8 1044 c.850A>C c.(850-852)ACA>CCA p.T284P TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.T284P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T152P|TP53_uc010cng.1_Missense_Mutation_p.T152P|TP53_uc002gii.1_Missense_Mutation_p.T152P|TP53_uc010cnh.1_Missense_Mutation_p.T284P|TP53_uc010cni.1_Missense_Mutation_p.T284P|TP53_uc002gij.2_Missense_Mutation_p.T284P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 284 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> A (in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.T284P(7)|p.T284fs*61(3)|p.T284T(3)|p.T284A(3)|p.?(2)|p.T284fs*21(2)|p.T284fs*62(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.T284I(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.R283fs*59(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) TCTTCCTCTGTGCGCCGGTCT 0.562 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 44 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7579355 7579355 + Missense_Mutation SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:7579355A>T uc002gim.2 - 4 526 c.332T>A c.(331-333)CTG>CAG p.L111Q TP53_uc002gig.1_Missense_Mutation_p.L111Q|TP53_uc002gih.2_Missense_Mutation_p.L111Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.L111Q|TP53_uc010cni.1_Missense_Mutation_p.L111Q|TP53_uc002gij.2_Missense_Mutation_p.L111Q|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.L72Q|TP53_uc010cnk.1_Missense_Mutation_p.L126Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 111 |Interaction with HIPK1 (By similarity). L -> Q (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> M (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.L111P(6)|p.L111Q(4)|p.L111R(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.Y107fs*44(1)|p.L111L(1)|p.L111M(1)|p.L111fs*10(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(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) CAAGAAGCCCAGACGGAAACC 0.617 111 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) 23 48 --- --- --- --- PASS EFNB3 1949 broad.mit.edu 37 17 7612580 7612580 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:7612580C>T uc002gis.2 + 5 1106 c.709C>T c.(709-711)CTG>TTG p.L237L NM_001406 NP_001397 Q15768 EFNB3_HUMAN ephrin-B3 precursor 237 Helical; (Potential). cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity ovary(1) 1 all_cancers(10;1.14e-06)|Prostate(122;0.081) GGGGCTGGCGCTGCTCTTGCT 0.716 9 22 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7643162 7643162 + Nonsense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:7643162G>T uc002giu.1 + 8 1296 c.1282G>T c.(1282-1284)GAG>TAG p.E428* DNAH2_uc002git.2_Nonsense_Mutation_p.E510*|DNAH2_uc010vuk.1_Nonsense_Mutation_p.E428* NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 428 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) GCTGGAGATTGAGGACATCTT 0.527 7 45 --- --- --- --- PASS NTN1 9423 broad.mit.edu 37 17 9066153 9066153 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:9066153C>T uc002glw.3 + 3 1149 c.1042C>T c.(1042-1044)CGG>TGG p.R348W NM_004822 NP_004813 O95631 NET1_HUMAN netrin 1 precursor 348 Laminin EGF-like 2. apoptosis|axon guidance protein binding 0 CCTGCATGCCCGGCGCTGCCG 0.642 51 82 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10356989 10356989 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:10356989C>G uc002gmn.2 - 23 3016 c.2905G>C c.(2905-2907)GAG>CAG p.E969Q uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 969 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 TTCTCCTTCTCAACCTTGGCC 0.378 44 224 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10399469 10399469 + Missense_Mutation SNP T A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:10399469T>A uc002gmo.2 - 35 5061 c.4967A>T c.(4966-4968)GAT>GTT p.D1656V uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1656 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.D1656Y(1) ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 GAGCTGGGTATCCTGTGGAAC 0.547 38 52 --- --- --- --- PASS MYOCD 93649 broad.mit.edu 37 17 12656532 12656532 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:12656532G>A uc002gnn.2 + 10 2226 c.1927G>A c.(1927-1929)GTG>ATG p.V643M MYOCD_uc002gno.2_Missense_Mutation_p.V643M|MYOCD_uc002gnp.1_Missense_Mutation_p.V547M|MYOCD_uc002gnq.2_Missense_Mutation_p.V362M NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 643 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GCTGGGGGCTGTGAAAAGCCC 0.557 31 122 --- --- --- --- PASS FLII 2314 broad.mit.edu 37 17 18148479 18148479 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:18148479C>G uc002gsr.1 - 30 3834 c.3783G>C c.(3781-3783)TGG>TGC p.W1261C FLII_uc002gsq.1_Missense_Mutation_p.W1132C|FLII_uc010cpy.1_Missense_Mutation_p.W1250C|FLII_uc010vxn.1_Missense_Mutation_p.W1230C|FLII_uc010vxo.1_Missense_Mutation_p.W1206C NM_002018 NP_002009 Q13045 FLII_HUMAN flightless I homolog 1261 multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(1)|skin(1) 2 all_neural(463;0.228) AGAAGGCGCTCCAGGCGTGGA 0.637 40 163 --- --- --- --- PASS FLII 2314 broad.mit.edu 37 17 18148904 18148904 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:18148904C>T uc002gsr.1 - 28 3625 c.3574G>A c.(3574-3576)GAT>AAT p.D1192N FLII_uc002gsq.1_Missense_Mutation_p.D1063N|FLII_uc010cpy.1_Missense_Mutation_p.D1181N|FLII_uc010vxn.1_Missense_Mutation_p.D1161N|FLII_uc010vxo.1_Missense_Mutation_p.D1137N NM_002018 NP_002009 Q13045 FLII_HUMAN flightless I homolog 1192 Gelsolin-like 5. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(1)|skin(1) 2 all_neural(463;0.228) ATGTCATCATCTGCCAGGTCA 0.512 31 136 --- --- --- --- PASS MFAP4 4239 broad.mit.edu 37 17 19288704 19288704 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:19288704C>A uc002gvt.2 - 4 329 c.304G>T c.(304-306)GGC>TGC p.G102C MFAP4_uc002gvr.2_Intron|MFAP4_uc002gvs.2_Missense_Mutation_p.G126C NM_002404 NP_002395 P55083 MFAP4_HUMAN microfibrillar-associated protein 4 precursor 102 Fibrinogen C-terminal. cell adhesion|signal transduction microfibril receptor binding 0 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CGGCCGAAGCCCAGCTTGTAG 0.577 31 59 --- --- --- --- PASS MFAP4 4239 broad.mit.edu 37 17 19288705 19288705 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:19288705C>A uc002gvt.2 - 4 328 c.303G>T c.(301-303)CTG>CTT p.L101L MFAP4_uc002gvr.2_Intron|MFAP4_uc002gvs.2_Silent_p.L125L NM_002404 NP_002395 P55083 MFAP4_HUMAN microfibrillar-associated protein 4 precursor 101 Fibrinogen C-terminal. cell adhesion|signal transduction microfibril receptor binding 0 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) GGCCGAAGCCCAGCTTGTAGT 0.582 31 58 --- --- --- --- PASS SUPT6H 6830 broad.mit.edu 37 17 27002030 27002030 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:27002030G>T uc002hby.2 + 5 478 c.388G>T c.(388-390)GAT>TAT p.D130Y SUPT6H_uc010crt.2_Missense_Mutation_p.D130Y NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 130 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) TGACGAGGACGATGACGAGGA 0.498 3 63 --- --- --- --- PASS IKZF3 22806 broad.mit.edu 37 17 37922313 37922313 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:37922313C>A uc002hsu.2 - 8 1322 c.1260G>T c.(1258-1260)GAG>GAT p.E420D IKZF3_uc002htd.2_Missense_Mutation_p.E386D|IKZF3_uc010cwd.2_Missense_Mutation_p.E277D|IKZF3_uc002hsv.2_Missense_Mutation_p.E347D|IKZF3_uc010cwe.2_Missense_Mutation_p.E286D|IKZF3_uc010cwf.2_Missense_Mutation_p.E238D|IKZF3_uc010cwg.2_Missense_Mutation_p.E199D|IKZF3_uc002hsw.2_Missense_Mutation_p.E381D|IKZF3_uc002hsx.2_Missense_Mutation_p.E364D|IKZF3_uc002hsy.2_Missense_Mutation_p.E381D|IKZF3_uc002hsz.2_Missense_Mutation_p.E325D|IKZF3_uc002hta.2_Missense_Mutation_p.E342D|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.E333D|IKZF3_uc002htc.2_Missense_Mutation_p.E173D|IKZF3_uc010wel.1_Missense_Mutation_p.E173D NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN aiolos isoform 1 420 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2)|kidney(2)|skin(2) 6 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) AGCGGGGAACCTCCTTCAGAA 0.542 53 114 --- --- --- --- PASS CDC6 990 broad.mit.edu 37 17 38449707 38449707 + Splice_Site SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:38449707G>A uc002huj.1 + 5 871 c.661_splice c.e5-1 p.K221_splice NM_001254 NP_001245 Q99741 CDC6_HUMAN cell division cycle 6 protein cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity ovary(2)|breast(1) 3 TTTTTTTCCAGAAGGAACTGA 0.403 17 45 --- --- --- --- PASS CDC6 990 broad.mit.edu 37 17 38449807 38449807 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:38449807G>A uc002huj.1 + 5 970 c.760G>A c.(760-762)GAG>AAG p.E254K NM_001254 NP_001245 Q99741 CDC6_HUMAN cell division cycle 6 protein 254 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity ovary(2)|breast(1) 3 TTGTCAGGAAGAGGTATCCAG 0.453 36 67 --- --- --- --- PASS CDC6 990 broad.mit.edu 37 17 38453016 38453016 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:38453016G>A uc002huj.1 + 9 1456 c.1246G>A c.(1246-1248)GAA>AAA p.E416K NM_001254 NP_001245 Q99741 CDC6_HUMAN cell division cycle 6 protein 416 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity ovary(2)|breast(1) 3 ACCACTGTCTGAATGTAAGTA 0.328 29 43 --- --- --- --- PASS KLHL11 55175 broad.mit.edu 37 17 40021343 40021343 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:40021343C>T uc002hyf.1 - 1 287 c.281G>A c.(280-282)TGC>TAC p.C94Y NM_018143 NP_060613 Q9NVR0 KLH11_HUMAN kelch-like 11 precursor 94 BTB. extracellular region 0 Breast(137;0.00156) GGTAATGTCGCAGAAGAGGCC 0.687 10 20 --- --- --- --- PASS RUNDC1 146923 broad.mit.edu 37 17 41143266 41143266 + Missense_Mutation SNP T G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:41143266T>G uc002ici.1 + 5 1387 c.1375T>G c.(1375-1377)TTG>GTG p.L459V RUNDC1_uc010whi.1_Missense_Mutation_p.L229V NM_173079 NP_775102 Q96C34 RUND1_HUMAN RUN domain containing 1 459 RUN. 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) TATTGCTTGTTTGCTGCCAGC 0.577 8 45 --- --- --- --- PASS COL1A1 1277 broad.mit.edu 37 17 48266583 48266583 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:48266583G>A uc002iqm.2 - 40 3009 c.2883C>T c.(2881-2883)GTC>GTT p.V961V NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 961 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) CAGGCAGGCCGACCACACCAC 0.622 T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 9 27 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51901867 51901867 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:51901867C>T uc002iua.2 + 1 1629 c.1473C>T c.(1471-1473)CAC>CAT p.H491H uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 491 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 ACAAGCCTCACACCCCATTCA 0.527 28 40 --- --- --- --- PASS TANC2 26115 broad.mit.edu 37 17 61432487 61432487 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:61432487C>T uc002jal.3 + 12 2119 c.2096C>T c.(2095-2097)TCT>TTT p.S699F TANC2_uc010wpe.1_Missense_Mutation_p.S609F|TANC2_uc002jam.1_Missense_Mutation_p.S66F NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 699 binding ovary(2) 2 CCAACCCAGTCTTCCTTTGAC 0.478 15 96 --- --- --- --- PASS SCN4A 6329 broad.mit.edu 37 17 62022729 62022729 + Silent SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:62022729G>C uc002jds.1 - 19 3788 c.3711C>G c.(3709-3711)CTC>CTG p.L1237L NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1237 III. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) CCACCTGCAGGAGGGAGAGGT 0.617 13 47 --- --- --- --- PASS SDK2 54549 broad.mit.edu 37 17 71394258 71394258 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:71394258C>A uc010dfm.2 - 24 3270 c.3270G>T c.(3268-3270)CAG>CAT p.Q1090H SDK2_uc002jjt.3_Missense_Mutation_p.Q249H|SDK2_uc010dfn.2_Missense_Mutation_p.Q769H NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1090 Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 CCTGCAGGGTCTGGATCTTTC 0.622 13 52 --- --- --- --- PASS RECQL5 9400 broad.mit.edu 37 17 73658595 73658595 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:73658595G>T uc010dgl.2 - 4 891 c.735C>A c.(733-735)TTC>TTA p.F245L RECQL5_uc010dgk.2_Missense_Mutation_p.F218L|RECQL5_uc002jpb.1_Missense_Mutation_p.F245L|RECQL5_uc002joz.3_Missense_Mutation_p.F245L|RECQL5_uc002jpa.3_Missense_Mutation_p.F245L NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 245 Helicase C-terminal. DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CCTTAAGGCAGAAGTCCTTCA 0.522 Other_identified_genes_with_known_or_suspected_DNA_repair_function 65 349 --- --- --- --- PASS LGALS3BP 3959 broad.mit.edu 37 17 76967757 76967757 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr17:76967757C>A uc002jwh.2 - 6 1838 c.1659G>T c.(1657-1659)TCG>TCT p.S553S LGALS3BP_uc002jwi.2_Silent_p.S359S|LGALS3BP_uc010dhr.2_Silent_p.S359S NM_005567 NP_005558 Q08380 LG3BP_HUMAN galectin 3 binding protein 553 cell adhesion|cellular defense response extracellular space|membrane|proteinaceous extracellular matrix protein binding|scavenger receptor activity central_nervous_system(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) AGGTGCTCTTCGAGCTGTTGG 0.612 OREG0024787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 47 --- --- --- --- PASS ZNF519 162655 broad.mit.edu 37 18 14105322 14105322 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr18:14105322C>A uc002kst.1 - 3 1370 c.1217G>T c.(1216-1218)TGT>TTT p.C406F ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron NM_145287 NP_660330 Q8TB69 ZN519_HUMAN zinc finger protein 519 406 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACATTCCTTACACTTGAAAGG 0.393 43 117 --- --- --- --- PASS SMAD4 4089 broad.mit.edu 37 18 48584787 48584787 + Nonsense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr18:48584787C>T uc010xdp.1 + 7 1403 c.865C>T c.(865-867)CAG>TAG p.Q289* SMAD4_uc002lfb.3_Nonsense_Mutation_p.Q134* NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 289 SAD. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.?(2) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CGGCCATCTTCAGCACCACCC 0.463 Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 28 43 --- --- --- --- PASS WDR7 23335 broad.mit.edu 37 18 54423878 54423878 + Missense_Mutation SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr18:54423878A>T uc002lgk.1 + 15 2265 c.2054A>T c.(2053-2055)GAC>GTC p.D685V WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.D685V NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 685 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) AACCTAACAGACCCGGACATA 0.348 41 43 --- --- --- --- PASS KIAA1468 57614 broad.mit.edu 37 18 59925844 59925844 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr18:59925844G>C uc002lil.2 + 15 2352 c.2137G>C c.(2137-2139)GAA>CAA p.E713Q KIAA1468_uc002lik.1_Missense_Mutation_p.E713Q|KIAA1468_uc010xel.1_Missense_Mutation_p.E713Q|KIAA1468_uc002lim.2_Missense_Mutation_p.E357Q NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 713 binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) GTGGACTACAGAACTTGGAAA 0.373 34 37 --- --- --- --- PASS TMPRSS9 360200 broad.mit.edu 37 19 2413846 2413846 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:2413846C>T uc010xgx.1 + 9 1301 c.1301C>T c.(1300-1302)GCC>GTC p.A434V TMPRSS9_uc002lvv.1_Missense_Mutation_p.A468V NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 434 Extracellular (Potential).|Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATCCTGGAGGCCACCACCAAA 0.672 11 12 --- --- --- --- PASS PNPLA6 10908 broad.mit.edu 37 19 7620514 7620514 + Silent SNP A G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:7620514A>G uc010xjq.1 + 26 3183 c.2988A>G c.(2986-2988)GTA>GTG p.V996V PNPLA6_uc002mgq.1_Silent_p.V948V|PNPLA6_uc010xjp.1_Silent_p.V921V|PNPLA6_uc002mgr.1_Silent_p.V948V|PNPLA6_uc002mgs.2_Silent_p.V986V|PNPLA6_uc002mgt.1_RNA NM_006702 NP_006693 Q8IY17 PLPL6_HUMAN neuropathy target esterase isoform b 987 Patatin.|Cytoplasmic (Potential). cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity ovary(3) 3 ACATCGGAGTACTAAAGGCAT 0.667 11 26 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8186173 8186173 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:8186173C>G uc002mjf.2 - 24 3201 c.3180G>C c.(3178-3180)GAG>GAC p.E1060D NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1060 EGF-like 13; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 TGAAGCCACTCTCGTAGCCGG 0.627 21 32 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 8976368 8976368 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:8976368C>A uc002mkp.2 - 75 42664 c.42460G>T c.(42460-42462)GGC>TGC p.G14154C MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.G954C|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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 AGCCCGGGGCCCACAGGGTCA 0.597 10 17 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 8976594 8976594 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:8976594G>A uc002mkp.2 - 74 42586 c.42382C>T c.(42382-42384)CTG>TTG p.L14128L MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.L928L|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 14159 SEA 14.|Extracellular (Potential). Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGGGAGATCAGTTGGCAACCC 0.567 8 14 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9067184 9067184 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:9067184G>T uc002mkp.2 - 3 20466 c.20262C>A c.(20260-20262)GAC>GAA p.D6754E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6756 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 TAGTTGGTGTGTCCAAGGTAA 0.483 102 119 --- --- --- --- PASS OR1M1 125963 broad.mit.edu 37 19 9203994 9203994 + Missense_Mutation SNP C A A rs61738474 byFrequency TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:9203994C>A uc010xkj.1 + 1 74 c.74C>A c.(73-75)ACG>AAG p.T25K NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, 25 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 GAGCAGGAGACGCTTCTCTTT 0.522 33 28 --- --- --- --- PASS SMARCA4 6597 broad.mit.edu 37 19 11130342 11130342 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:11130342G>A uc002mqf.3 + 18 2865 c.2581G>A c.(2581-2583)GAG>AAG p.E861K SMARCA4_uc010dxp.2_Missense_Mutation_p.E861K|SMARCA4_uc010dxo.2_Missense_Mutation_p.E861K|SMARCA4_uc002mqg.1_Missense_Mutation_p.E861K|SMARCA4_uc010dxq.2_Missense_Mutation_p.E861K|SMARCA4_uc010dxr.2_Missense_Mutation_p.E861K|SMARCA4_uc002mqj.3_Missense_Mutation_p.E861K|SMARCA4_uc010dxs.2_Missense_Mutation_p.E861K|SMARCA4_uc010dxt.1_Missense_Mutation_p.E81K|SMARCA4_uc002mqh.3_5'UTR|SMARCA4_uc002mqi.1_5'Flank NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 861 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GACGACGTACGAGTACATCAT 0.597 F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 5 23 --- --- --- --- PASS CD97 976 broad.mit.edu 37 19 14518791 14518791 + Silent SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:14518791C>A uc002myl.2 + 19 2571 c.2448C>A c.(2446-2448)ACC>ACA p.T816T CD97_uc002mym.2_Silent_p.T767T|CD97_uc002myn.2_Silent_p.T723T NM_078481 NP_510966 P48960 CD97_HUMAN CD97 antigen isoform 1 precursor 816 Cytoplasmic (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(3)|breast(1) 4 TCACCTCCACCACGTCTGGCA 0.657 7 21 --- --- --- --- PASS PIK3R2 5296 broad.mit.edu 37 19 18271322 18271322 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:18271322G>T uc002nia.1 + 3 876 c.364G>T c.(364-366)GAT>TAT p.D122Y PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 122 Rho-GAP. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 CTCCCCACCTGATGTGGCTCC 0.567 4 26 --- --- --- --- PASS DPF1 8193 broad.mit.edu 37 19 38713015 38713015 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:38713015G>T uc002ohl.2 - 3 388 c.361C>A c.(361-363)CCC>ACC p.P121T DPF1_uc002ohm.2_Missense_Mutation_p.P121T|DPF1_uc002ohn.2_Missense_Mutation_p.P39T|DPF1_uc010xtu.1_Missense_Mutation_p.P95T|DPF1_uc010xtv.1_Missense_Mutation_p.P95T|DPF1_uc010xtw.1_Missense_Mutation_p.P95T NM_004647 NP_004638 Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 isoform 121 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding 0 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TACTCGCAGGGCCTGAGTCTG 0.612 113 86 --- --- --- --- PASS LGALS4 3960 broad.mit.edu 37 19 39299479 39299479 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:39299479C>T uc002ojg.2 - 3 458 c.244G>A c.(244-246)GGG>AGG p.G82R LGALS4_uc010xuj.1_Missense_Mutation_p.G82R NM_006149 NP_006140 P56470 LEG4_HUMAN galectin-4 82 Galectin 1. cell adhesion cytosol|plasma membrane sugar binding ovary(1)|skin(1) 2 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) CCCCACTTCCCGCCCTGCAAC 0.582 17 100 --- --- --- --- PASS CNTD2 79935 broad.mit.edu 37 19 40730462 40730462 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:40730462C>A uc010xvi.1 - 3 495 c.446G>T c.(445-447)CGC>CTC p.R149L CNTD2_uc002ond.2_RNA NM_024877 NP_079153 Q9H8S5 CNTD2_HUMAN cyclin N-terminal domain containing 2 isoform 2 149 regulation of cyclin-dependent protein kinase activity protein kinase binding 0 CAGCTGCAGGCGATGTAGACG 0.612 141 72 --- --- --- --- PASS PSG7 5676 broad.mit.edu 37 19 43430769 43430769 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:43430769G>T uc002ovl.3 - 5 911 c.809C>A c.(808-810)ACC>AAC p.T270N PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.T148N NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 270 Ig-like C2-type 2. female pregnancy extracellular region 0 Prostate(69;0.00682) CCAAATGTAGGTGTAGTTCTC 0.488 342 201 --- --- --- --- PASS CD177 57126 broad.mit.edu 37 19 43859925 43859925 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:43859925G>T uc002owi.2 + 4 534 c.492G>T c.(490-492)AGG>AGT p.R164S CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA NM_020406 NP_065139 Q8N6Q3 CD177_HUMAN CD177 molecule precursor 164 UPAR/Ly6 1. blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1) 1 Prostate(69;0.00682) GCCTCCTCAGGCTCAGGGGAG 0.582 30 119 --- --- --- --- PASS TEX101 83639 broad.mit.edu 37 19 43922079 43922079 + Silent SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:43922079G>T uc010xwo.1 + 5 636 c.441G>T c.(439-441)GGG>GGT p.G147G TEX101_uc002owk.2_Silent_p.G165G NM_001130011 NP_001123483 Q9BY14 TX101_HUMAN testis expressed 101 isoform 2 147 anchored to membrane|plasma membrane ovary(1) 1 Prostate(69;0.0199) TGGCTTTGGGGACCTGTTTCA 0.493 11 278 --- --- --- --- PASS PLAUR 5329 broad.mit.edu 37 19 44169569 44169569 + Nonsense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:44169569G>C uc002oxf.1 - 3 439 c.209C>G c.(208-210)TCA>TGA p.S70* PLAUR_uc002oxd.1_Nonsense_Mutation_p.S70*|PLAUR_uc002oxe.1_Nonsense_Mutation_p.S65*|PLAUR_uc002oxg.1_Nonsense_Mutation_p.S70* NM_002659 NP_002650 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 70 UPAR/Ly6 1. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity ovary(1) 1 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) GGTCTTCTCTGAGTGGGTACA 0.542 75 43 --- --- --- --- PASS SULT2A1 6822 broad.mit.edu 37 19 48386955 48386955 + Nonsense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:48386955G>T uc002phr.2 - 2 364 c.224C>A c.(223-225)TCA>TAA p.S75* NM_003167 NP_003158 Q06520 ST2A1_HUMAN bile-salt sulfotransferase 2A1 75 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity ovary(1)|pancreas(1) 2 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) TACCCAGGGTGATCGCTCCCA 0.517 56 26 --- --- --- --- PASS LIG1 3978 broad.mit.edu 37 19 48654549 48654549 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:48654549C>G uc002pia.1 - 7 634 c.514G>C c.(514-516)GAG>CAG p.E172Q LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Missense_Mutation_p.E141Q|LIG1_uc010xzh.1_RNA NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 172 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CCTTCCTTCTCTGTGGCCACT 0.562 NER 30 171 --- --- --- --- PASS TULP2 7288 broad.mit.edu 37 19 49392767 49392767 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:49392767C>G uc002pkz.2 - 7 787 c.636G>C c.(634-636)AAG>AAC p.K212N NM_003323 NP_003314 O00295 TULP2_HUMAN tubby like protein 2 212 visual perception cytoplasm|extracellular region ovary(1)|kidney(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) ATTTTCCTACCTTTTGGAAGG 0.493 103 67 --- --- --- --- PASS SLC6A16 28968 broad.mit.edu 37 19 49814440 49814440 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:49814440C>T uc002pmz.2 - 2 399 c.165G>A c.(163-165)CGG>CGA p.R55R SLC6A16_uc002pna.2_Silent_p.R55R|hsa-mir-4324|MI0015854_5'Flank NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 55 Cytoplasmic (Potential). integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) CCTCTGCAACCCGGGCTGCTG 0.547 36 23 --- --- --- --- PASS POLD1 5424 broad.mit.edu 37 19 50905612 50905612 + Missense_Mutation SNP A T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:50905612A>T uc002psb.3 + 6 796 c.740A>T c.(739-741)AAC>ATC p.N247I POLD1_uc002psc.3_Missense_Mutation_p.N247I|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.N247I NM_002691 NP_002682 P28340 DPOD1_HUMAN DNA-directed DNA polymerase delta 1 247 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) TACGAGGCCAACGTCGACTTT 0.711 DNA_polymerases_(catalytic_subunits) 40 29 --- --- --- --- PASS ZNF665 79788 broad.mit.edu 37 19 53678738 53678738 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:53678738C>A uc010eqm.1 - 3 202 c.102G>T c.(100-102)AGG>AGT p.R34S NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 Error:Variant_position_missing_in_Q9H7R5_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) ACATGACGTCCCTGTACAAAG 0.453 129 61 --- --- --- --- PASS CACNG7 59284 broad.mit.edu 37 19 54418653 54418653 + Silent SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:54418653C>G uc002qcr.1 + 3 333 c.318C>G c.(316-318)GTC>GTG p.V106V CACNG7_uc010era.1_Silent_p.V106V NM_031896 NP_114102 P62955 CCG7_HUMAN voltage-dependent calcium channel gamma-7 106 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(1) 1 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) TCCCCATGGTCAGCCTCTTCC 0.602 47 30 --- --- --- --- PASS ZNF579 163033 broad.mit.edu 37 19 56089972 56089972 + Nonsense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:56089972G>C uc002qlh.2 - 2 1087 c.1034C>G c.(1033-1035)TCA>TGA p.S345* NM_152600 NP_689813 Q8NAF0 ZN579_HUMAN zinc finger protein 579 345 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) CCCCTTGGCTGAGTTCCGTGC 0.667 19 7 --- --- --- --- PASS ZNF579 163033 broad.mit.edu 37 19 56090271 56090271 + Silent SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:56090271G>C uc002qlh.2 - 2 788 c.735C>G c.(733-735)CTC>CTG p.L245L NM_152600 NP_689813 Q8NAF0 ZN579_HUMAN zinc finger protein 579 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) GGTGCGCCTTGAGCTCGCCCT 0.701 9 4 --- --- --- --- PASS ZSCAN4 201516 broad.mit.edu 37 19 58190226 58190226 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:58190226G>A uc002qpu.2 + 5 1952 c.1255G>A c.(1255-1257)GAG>AAG p.E419K NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 419 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAGGACTCATGAGAAAATTAC 0.418 98 57 --- --- --- --- PASS ZSCAN1 284312 broad.mit.edu 37 19 58565154 58565154 + Missense_Mutation SNP C A A rs143175520 TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:58565154C>A uc002qrc.1 + 6 1209 c.962C>A c.(961-963)CCG>CAG p.P321Q NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 321 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGGCCCTTTCCGTGCCCCGAG 0.632 53 31 --- --- --- --- PASS ZNF324B 388569 broad.mit.edu 37 19 58967450 58967450 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:58967450G>A uc002qsv.1 + 4 1246 c.1139G>A c.(1138-1140)CGC>CAC p.R380H ZNF324B_uc002qsu.1_Missense_Mutation_p.R370H|ZNF324B_uc010euq.1_Missense_Mutation_p.R380H NM_207395 NP_997278 Q6AW86 Z324B_HUMAN zinc finger protein 324B 380 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CGCTTCTGCCGCAACTCGCAC 0.652 3 51 --- --- --- --- PASS MZF1 7593 broad.mit.edu 37 19 59073609 59073609 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:59073609G>A uc002qto.2 - 6 2596 c.2035C>T c.(2035-2037)CGG>TGG p.R679W LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Missense_Mutation_p.R679W NM_198055 NP_932172 P28698 MZF1_HUMAN zinc finger protein 42 isoform 2 679 viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) GCGTAGGGCCGTTCACCCGTG 0.692 3 29 --- --- --- --- PASS SIRPG 55423 broad.mit.edu 37 20 1617104 1617104 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:1617104G>T uc002wfm.1 - 3 543 c.478C>A c.(478-480)CCT>ACT p.P160T SIRPG_uc002wfn.1_Missense_Mutation_p.P160T|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma isoform 1 160 Extracellular (Potential).|Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding ovary(1) 1 GTATGCTCAGGTGTGGTCCTC 0.512 31 69 --- --- --- --- PASS HSPA12B 116835 broad.mit.edu 37 20 3732708 3732708 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:3732708G>C uc002wjd.2 + 13 2059 c.1956G>C c.(1954-1956)GAG>GAC p.E652D HSPA12B_uc010zqi.1_Missense_Mutation_p.E651D|HSPA12B_uc002wje.2_Missense_Mutation_p.E565D|HSPA12B_uc010zqj.1_Missense_Mutation_p.E486D NM_052970 NP_443202 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 652 ATP binding 0 GCCGCCGCGAGATCCGCGCCG 0.692 3 14 --- --- --- --- PASS RIN2 54453 broad.mit.edu 37 20 19956105 19956105 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:19956105C>T uc002wro.1 + 7 1472 c.1436C>T c.(1435-1437)TCC>TTC p.S479F RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Missense_Mutation_p.S273F NM_018993 NP_061866 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 479 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity lung(4)|ovary(1) 5 CCCATCAAGTCCAAAAAGAAA 0.592 9 60 --- --- --- --- PASS NKX2-2 4821 broad.mit.edu 37 20 21493106 21493106 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:21493106C>A uc002wsi.2 - 2 634 c.277G>T c.(277-279)GGG>TGG p.G93W NM_002509 NP_002500 O95096 NKX22_HUMAN NK2 transcription factor related, locus 2 93 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity pancreas(1)|skin(1) 2 GGGGGCGCCCCGGCAGCCAGA 0.726 5 19 --- --- --- --- PASS TRPC4AP 26133 broad.mit.edu 37 20 33593507 33593507 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:33593507C>G uc002xbk.2 - 16 1961 c.1927G>C c.(1927-1929)GAT>CAT p.D643H TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Missense_Mutation_p.D234H|TRPC4AP_uc002xbl.2_Missense_Mutation_p.D635H|TRPC4AP_uc010zur.1_Missense_Mutation_p.D604H NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a 643 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) CCTTTCATATCCACCTGGTTT 0.517 33 60 --- --- --- --- PASS UQCC 55245 broad.mit.edu 37 20 33969754 33969754 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:33969754C>A uc002xcd.2 - 4 367 c.300G>T c.(298-300)ATG>ATT p.M100I UQCC_uc010zuy.1_Missense_Mutation_p.M1I|UQCC_uc010zuz.1_Intron|UQCC_uc010zva.1_Intron|UQCC_uc002xce.2_Missense_Mutation_p.M100I|UQCC_uc002xcg.2_5'UTR|UQCC_uc010gfb.2_Missense_Mutation_p.M100I|UQCC_uc010zvb.1_Intron|UQCC_uc002xcf.2_Intron|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_Missense_Mutation_p.M54I|UQCC_uc010gfd.1_Missense_Mutation_p.M86I NM_018244 NP_060714 Q9NVA1 UQCC_HUMAN basic FGF-repressed Zic binding protein isoform 100 cytoplasmic membrane-bounded vesicle breast(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) CCGTGAATCCCATGGCTTCTA 0.378 74 178 --- --- --- --- PASS TGM2 7052 broad.mit.edu 37 20 36766704 36766704 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:36766704G>A uc002xhr.2 - 10 1526 c.1426C>T c.(1426-1428)CGG>TGG p.R476W TGM2_uc010zvx.1_Missense_Mutation_p.R395W|TGM2_uc010zvy.1_Missense_Mutation_p.R416W|TGM2_uc002xhs.1_Missense_Mutation_p.R452W|TGM2_uc002xht.2_Missense_Mutation_p.R476W NM_004613 NP_004604 P21980 TGM2_HUMAN transglutaminase 2 isoform a 476 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(1)|lung(1)|ovary(1) 3 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) ACACGGATCCGCATGGCCATC 0.587 15 73 --- --- --- --- PASS RALGAPB 57148 broad.mit.edu 37 20 37126041 37126041 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:37126041G>A uc002xiw.2 + 4 692 c.435G>A c.(433-435)CTG>CTA p.L145L RALGAPB_uc010zvz.1_Silent_p.L145L|RALGAPB_uc002xix.2_Silent_p.L145L|RALGAPB_uc002xiy.1_Silent_p.L145L|RALGAPB_uc002xiz.2_Intron NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 145 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 TACAGGTCCTGAGAGCCATTC 0.483 16 85 --- --- --- --- PASS PLCG1 5335 broad.mit.edu 37 20 39802170 39802170 + Silent SNP T C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:39802170T>C uc002xjp.1 + 28 3511 c.3390T>C c.(3388-3390)TTT>TTC p.F1130F PLCG1_uc002xjo.1_Silent_p.F1130F|PLCG1_uc010zwe.1_Silent_p.F756F NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 1130 C2. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) AGACAGAGTTTGTGGGTCAGT 0.562 OREG0025953 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 52 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40713430 40713430 + Missense_Mutation SNP T C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:40713430T>C uc002xkg.2 - 29 4212 c.4028A>G c.(4027-4029)TAC>TGC p.Y1343C PTPRT_uc010ggj.2_Missense_Mutation_p.Y1362C|PTPRT_uc010ggi.2_Missense_Mutation_p.Y546C NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1343 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) CGTGTCCCGGTAGGCAGGCCA 0.592 9 34 --- --- --- --- PASS SULF2 55959 broad.mit.edu 37 20 46295089 46295089 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:46295089G>T uc002xto.2 - 12 2050 c.1720C>A c.(1720-1722)CAA>AAA p.Q574K SULF2_uc002xtr.2_Missense_Mutation_p.Q574K|SULF2_uc002xtq.2_Missense_Mutation_p.Q574K|SULF2_uc010zyd.1_5'Flank NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 574 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 TTGTCATCTTGGTCCTCAGGG 0.632 37 79 --- --- --- --- PASS B4GALT5 9334 broad.mit.edu 37 20 48259098 48259098 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:48259098C>T uc002xuu.3 - 5 707 c.513G>A c.(511-513)CGG>CGA p.R171R NM_004776 NP_004767 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 171 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) CGTGGCGGTTCCGGAAGGGGA 0.522 25 66 --- --- --- --- PASS DPM1 8813 broad.mit.edu 37 20 49552786 49552786 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:49552786C>G uc002xvw.1 - 8 577 c.577G>C c.(577-579)GAA>CAA p.E193Q DPM1_uc002xvv.1_Missense_Mutation_p.E123Q|DPM1_uc002xvx.1_RNA NM_003859 NP_003850 O60762 DPM1_HUMAN dolichyl-phosphate mannosyltransferase 1 193 C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding ovary(1) 1 TCTAGAACTTCTTTTCGGTAT 0.333 22 32 --- --- --- --- PASS BCAS1 8537 broad.mit.edu 37 20 52570115 52570115 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:52570115C>T uc002xws.2 - 11 1874 c.1536G>A c.(1534-1536)CAG>CAA p.Q512Q BCAS1_uc010zza.1_Silent_p.Q178Q|BCAS1_uc010zzb.1_Silent_p.Q438Q|BCAS1_uc010gim.2_Silent_p.Q368Q|BCAS1_uc002xwt.2_Silent_p.Q498Q|BCAS1_uc010gil.1_Silent_p.Q434Q NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 512 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) TGTTGCTCTTCTGCTTGTTCA 0.547 20 97 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57768531 57768531 + Silent SNP C G G rs57571629 by1000genomes TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:57768531C>G uc002yan.2 + 1 2457 c.2457C>G c.(2455-2457)CCC>CCG p.P819P NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 819 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) ACAAGCTCCCCTCAGAGAGGA 0.637 14 44 --- --- --- --- PASS PHACTR3 116154 broad.mit.edu 37 20 58318184 58318184 + Silent SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:58318184G>T uc002yau.2 + 2 608 c.141G>T c.(139-141)CCG>CCT p.P47P PHACTR3_uc002yat.2_Silent_p.P44P|PHACTR3_uc010zzw.1_Silent_p.P6P|PHACTR3_uc002yav.2_Silent_p.P6P|PHACTR3_uc002yaw.2_Silent_p.P6P|PHACTR3_uc002yax.2_Silent_p.P6P NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 47 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) AAACGCCCCCGGCGCGTCCTG 0.572 23 118 --- --- --- --- PASS COL20A1 57642 broad.mit.edu 37 20 61939981 61939981 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr20:61939981C>T uc011aau.1 + 8 963 c.863C>T c.(862-864)ACG>ATG p.T288M COL20A1_uc011aav.1_Missense_Mutation_p.T109M NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 288 VWFA. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) ATTCTGGTGACGGACGGCAAG 0.667 6 18 --- --- --- --- PASS BTG3 10950 broad.mit.edu 37 21 18977217 18977217 + Missense_Mutation SNP T A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr21:18977217T>A uc002ykk.2 - 3 532 c.272A>T c.(271-273)GAG>GTG p.E91V BTG3_uc002ykl.2_Missense_Mutation_p.E91V NM_006806 NP_006797 Q14201 BTG3_HUMAN B-cell translocation gene 3 isoform b 91 negative regulation of cell proliferation|negative regulation of mitotic cell cycle cytoplasm 0 Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971) GAGAGTGAGCTCCTTTGGCAA 0.453 27 30 --- --- --- --- PASS BTG3 10950 broad.mit.edu 37 21 18977219 18977219 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr21:18977219C>A uc002ykk.2 - 3 530 c.270G>T c.(268-270)AAG>AAT p.K90N BTG3_uc002ykl.2_Missense_Mutation_p.K90N NM_006806 NP_006797 Q14201 BTG3_HUMAN B-cell translocation gene 3 isoform b 90 negative regulation of cell proliferation|negative regulation of mitotic cell cycle cytoplasm 0 Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971) GAGTGAGCTCCTTTGGCAAGC 0.453 28 28 --- --- --- --- PASS GRIK1 2897 broad.mit.edu 37 21 31015280 31015280 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr21:31015280C>G uc002yno.1 - 7 1428 c.964G>C c.(964-966)GCT>CCT p.A322P GRIK1_uc002ynn.2_Missense_Mutation_p.A322P|GRIK1_uc011acs.1_Missense_Mutation_p.A322P|GRIK1_uc011act.1_Missense_Mutation_p.A266P|GRIK1_uc010glq.1_Missense_Mutation_p.A180P|GRIK1_uc002ynr.2_Missense_Mutation_p.A322P NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 322 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TACATCAGAGCCGCTTCAGTC 0.517 54 55 --- --- --- --- PASS MRPS6 64968 broad.mit.edu 37 21 35514721 35514721 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr21:35514721G>T uc002ytp.2 + 3 377 c.199G>T c.(199-201)GAT>TAT p.D67Y NM_032476 NP_115865 P82932 RT06_HUMAN mitochondrial ribosomal protein S6 67 translation mitochondrion|small ribosomal subunit rRNA binding|structural constituent of ribosome skin(1) 1 TTTCTTGGTGGATTTTTATGC 0.383 40 38 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 41414427 41414427 + Nonsense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr21:41414427C>A uc002yyq.1 - 32 6009 c.5557G>T c.(5557-5559)GAG>TAG p.E1853* DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1853 Cytoplasmic (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCCGTGTACTCATTTGTCCCT 0.537 82 73 --- --- --- --- PASS PRDM15 63977 broad.mit.edu 37 21 43256623 43256623 + Missense_Mutation SNP C A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr21:43256623C>A uc002yzq.1 - 16 2346 c.2235G>T c.(2233-2235)AAG>AAT p.K745N PRDM15_uc002yzo.2_Missense_Mutation_p.K416N|PRDM15_uc002yzp.2_Missense_Mutation_p.K416N|PRDM15_uc002yzr.1_Missense_Mutation_p.K416N NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 745 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCTGGAAGATCTTGCTGCAGA 0.468 69 66 --- --- --- --- PASS PWP2 5822 broad.mit.edu 37 21 45547881 45547881 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr21:45547881G>A uc002zeb.2 + 18 2299 c.2209G>A c.(2209-2211)GAC>AAC p.D737N NM_005049 NP_005040 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog 737 WD 14. cytoplasm|nucleolus signal transducer activity pancreas(1) 1 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CGTGCTCTTTGACCCGTTTGA 0.627 30 37 --- --- --- --- PASS KRTAP12-4 386684 broad.mit.edu 37 21 46074512 46074512 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr21:46074512G>C uc002zfs.1 - 1 65 c.20C>G c.(19-21)TCT>TGT p.S7C C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198698 NP_941971 P60329 KR124_HUMAN keratin associated protein 12-4 7 keratin filament ovary(1) 1 GCAGCCCGAAGAGTGGCTGGT 0.662 11 7 --- --- --- --- PASS DIP2A 23181 broad.mit.edu 37 21 47952109 47952109 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr21:47952109G>C uc002zjo.2 + 10 1447 c.1264G>C c.(1264-1266)GAG>CAG p.E422Q DIP2A_uc011afy.1_Missense_Mutation_p.E358Q|DIP2A_uc011afz.1_Missense_Mutation_p.E418Q|DIP2A_uc002zjl.2_Missense_Mutation_p.E422Q|DIP2A_uc002zjm.2_Missense_Mutation_p.E422Q|DIP2A_uc010gql.2_Missense_Mutation_p.E379Q|DIP2A_uc002zjn.2_Missense_Mutation_p.E422Q|DIP2A_uc002zjp.1_Missense_Mutation_p.E167Q NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 422 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TCTCCTGGCAGAGCTGGTTCC 0.478 23 29 --- --- --- --- PASS DGCR8 54487 broad.mit.edu 37 22 20079140 20079140 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr22:20079140G>A uc002zri.2 + 6 1839 c.1489G>A c.(1489-1491)GCA>ACA p.A497T DGCR8_uc010grz.2_Missense_Mutation_p.A497T|DGCR8_uc002zrj.2_Missense_Mutation_p.A140T NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN DiGeorge syndrome critical region gene 8 497 Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding 0 Colorectal(54;0.0993) AGTGCAAGATGCACCCACAAA 0.463 100 91 --- --- --- --- PASS TRMT2A 27037 broad.mit.edu 37 22 20100675 20100675 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr22:20100675G>A uc002zrk.1 - 11 1730 c.1515C>T c.(1513-1515)CTC>CTT p.L505L TRMT2A_uc002zrl.1_Silent_p.L505L|TRMT2A_uc002zrm.1_Silent_p.L327L|TRMT2A_uc002zrn.1_Silent_p.L523L NM_182984 NP_892029 Q8IZ69 TRM2A_HUMAN HpaII tiny fragments locus 9C 505 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(1) 1 GGATGGCCACGAGGTGCTGGG 0.612 36 49 --- --- --- --- PASS PRAME 23532 broad.mit.edu 37 22 22890745 22890745 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr22:22890745C>G uc002zwf.2 - 5 1430 c.1274G>C c.(1273-1275)AGT>ACT p.S425T LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.S409T|PRAME_uc010gtr.2_Missense_Mutation_p.S425T|PRAME_uc002zwg.2_Missense_Mutation_p.S425T|PRAME_uc002zwh.2_Missense_Mutation_p.S425T|PRAME_uc002zwi.2_Missense_Mutation_p.S425T|PRAME_uc002zwj.2_Missense_Mutation_p.S425T|PRAME_uc002zwk.2_Missense_Mutation_p.S425T NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 425 LRR 4.|Mediates interaction with RARA. apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) CTGCAGGAGACTCTGCAAGGC 0.557 9 53 --- --- --- --- PASS SEZ6L 23544 broad.mit.edu 37 22 26769434 26769434 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr22:26769434G>A uc003acb.2 + 14 2968 c.2812G>A c.(2812-2814)GAA>AAA p.E938K SEZ6L_uc003acc.2_Missense_Mutation_p.E938K|SEZ6L_uc011akc.1_Intron|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Intron|SEZ6L_uc003ace.2_Intron|SEZ6L_uc003acf.1_Missense_Mutation_p.E711K|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.1_Intron NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 938 Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 AGACAGTTTTGAACATGCTTT 0.323 33 48 --- --- --- --- PASS RFPL3 10738 broad.mit.edu 37 22 32756478 32756478 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr22:32756478G>T uc003amj.2 + 2 818 c.613G>T c.(613-615)GGG>TGG p.G205W RFPL3_uc010gwn.2_Missense_Mutation_p.G176W|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA NM_001098535 NP_001092005 O75679 RFPL3_HUMAN ret finger protein-like 3 isoform 1 205 B30.2/SPRY. zinc ion binding ovary(1) 1 TCACTGCAAAGGGAAGATCCA 0.567 41 60 --- --- --- --- PASS CELSR1 9620 broad.mit.edu 37 22 46932349 46932349 + Missense_Mutation SNP C G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr22:46932349C>G uc003bhw.1 - 1 719 c.719G>C c.(718-720)AGA>ACA p.R240T NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 240 Extracellular (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CAGGCTCCCTCTGCCGCTCGT 0.537 9 14 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3235316 3235316 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chrX:3235316G>T uc004crg.3 - 6 6563 c.6406C>A c.(6406-6408)CAG>AAG p.Q2136K NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2136 Ig-like C2-type 5. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) ACGTTCAGCTGCACCGTCCTG 0.687 9 3 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32591903 32591903 + Missense_Mutation SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chrX:32591903G>T uc004dda.1 - 14 1907 c.1663C>A c.(1663-1665)CAA>AAA p.Q555K DMD_uc004dcz.2_Missense_Mutation_p.Q432K|DMD_uc004dcy.1_Missense_Mutation_p.Q551K|DMD_uc004ddb.1_Missense_Mutation_p.Q547K|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.Q547K|DMD_uc010ngp.1_Nonsense_Mutation_p.Y74*|DMD_uc010ngq.1_RNA NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 555 Spectrin 2. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGGATGTCTTGTAAAAGAACC 0.433 17 25 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34149269 34149269 + Missense_Mutation SNP T C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chrX:34149269T>C uc004ddg.2 - 1 1160 c.1127A>G c.(1126-1128)CAC>CGC p.H376R NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 376 ovary(4)|central_nervous_system(1) 5 AGGCTCCGCGTGGAGACTGGA 0.637 11 25 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34149330 34149330 + Missense_Mutation SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chrX:34149330C>T uc004ddg.2 - 1 1099 c.1066G>A c.(1066-1068)GAG>AAG p.E356K NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 356 ovary(4)|central_nervous_system(1) 5 ACTCCAGTCTCGGAAGGCTCC 0.657 9 21 --- --- --- --- PASS XK 7504 broad.mit.edu 37 X 37587032 37587032 + Missense_Mutation SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chrX:37587032G>A uc004ddq.2 + 3 734 c.652G>A c.(652-654)GAG>AAG p.E218K NM_021083 NP_066569 P51811 XK_HUMAN membrane transport protein XK 218 Helical; (Potential). amino acid transport integral to membrane protein binding|transporter activity 0 all_lung(315;0.175) GAGGAGCTTTGAGATTGCCAC 0.458 27 17 --- --- --- --- PASS GPRASP2 114928 broad.mit.edu 37 X 101970929 101970929 + Missense_Mutation SNP G C C TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chrX:101970929G>C uc004ejk.2 + 4 2466 c.1132G>C c.(1132-1134)GAA>CAA p.E378Q GPRASP2_uc004ejl.2_Missense_Mutation_p.E378Q|GPRASP2_uc004ejm.2_Missense_Mutation_p.E378Q|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 378 cytoplasm protein binding ovary(1) 1 GGTCAAACAAGAACCCAGGTT 0.478 43 25 --- --- --- --- PASS TEX13B 56156 broad.mit.edu 37 X 107225187 107225187 + Silent SNP G A A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chrX:107225187G>A uc004enn.1 - 2 264 c.171C>T c.(169-171)AGC>AGT p.S57S NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 57 ovary(1) 1 TGGGCACCTCGCTGTCCTCCA 0.602 63 43 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123870953 123870953 + Silent SNP G T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chrX:123870953G>T uc004euj.2 - 4 694 c.630C>A c.(628-630)CCC>CCA p.P210P ODZ1_uc011muj.1_Silent_p.P210P|ODZ1_uc010nqy.2_Silent_p.P210P NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 210 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CCGCTGCAGGGGGTGGCTTCC 0.622 45 41 --- --- --- --- PASS BCORL1 63035 broad.mit.edu 37 X 129147552 129147552 + Silent SNP C T T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chrX:129147552C>T uc004evb.1 + 4 918 c.804C>T c.(802-804)CTC>CTT p.L268L BCORL1_uc010nrd.1_Silent_p.L170L NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 268 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 TGCCCACGCTCATCTCTGACT 0.592 67 49 --- --- --- --- PASS MAMLD1 10046 broad.mit.edu 37 X 149639719 149639719 + Missense_Mutation SNP A G G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chrX:149639719A>G uc004fee.1 + 3 1950 c.1874A>G c.(1873-1875)CAG>CGG p.Q625R MAMLD1_uc011mxt.1_Missense_Mutation_p.Q587R|MAMLD1_uc011mxu.1_Missense_Mutation_p.Q600R|MAMLD1_uc011mxv.1_Missense_Mutation_p.Q600R|MAMLD1_uc011mxw.1_Missense_Mutation_p.Q552R NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 625 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) CAGCGTTTTCAGCGATCAGTG 0.388 4 100 --- --- --- --- PASS LOC731789 731789 broad.mit.edu 37 10 26939628 26939628 + RNA DEL C - - TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr10:26939628delC uc001isu.3 + 4 c.5622delC NR_026794 Homo sapiens mRNA; cDNA DKFZp686G1626 (from clone DKFZp686G1626). 0 ACCCAGCCGTCCCCcaggaga 0.284 18 8 --- --- --- --- HYDIN 54768 broad.mit.edu 37 16 71218891 71218891 + Frame_Shift_Del DEL A - - TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr16:71218891delA uc002ezr.2 - 3 266 c.138delT c.(136-138)CTTfs p.L46fs HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Frame_Shift_Del_p.L46fs|HYDIN_uc010vmc.1_Frame_Shift_Del_p.L63fs|HYDIN_uc010vmd.1_Frame_Shift_Del_p.L73fs|HYDIN_uc002ezw.3_Frame_Shift_Del_p.L63fs NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 46 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CTGAGGGTGTAAGCTAGAATG 0.393 29 18 --- --- --- --- UBE2M 9040 broad.mit.edu 37 19 59068153 59068153 + Frame_Shift_Del DEL C - - TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 3b21ce38-16c6-4c68-9104-fa11f1b619b1 bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f g.chr19:59068153delC uc002qtl.3 - 4 843 c.248delG c.(247-249)GGCfs p.G83fs CHMP2A_uc002qti.2_5'Flank|CHMP2A_uc002qtj.2_5'Flank|CHMP2A_uc002qtk.2_5'Flank|LOC100131691_uc002qtm.2_5'Flank NM_003969 NP_003960 P61081 UBC12_HUMAN ubiquitin-conjugating enzyme E2M 83 protein neddylation ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity ovary(1)|pancreas(1) 2 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) GTAACCCTGGCCCACCTGGCT 0.597 66 60 --- --- --- ---