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 PEX10 5192 broad.mit.edu 37 1 2340172 2340172 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:2340172C>G uc001ajh.2 - 3 388 c.319G>C c.(319-321)GAC>CAC p.D107H PEX10_uc001ajg.2_Missense_Mutation_p.D107H NM_002617 NP_002608 O60683 PEX10_HUMAN peroxisome biogenesis factor 10 isoform 2 107 protein import into peroxisome matrix|protein import into peroxisome matrix integral to peroxisomal membrane|peroxisomal membrane protein binding|protein C-terminus binding|zinc ion binding|zinc ion binding central_nervous_system(1) 1 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199) AGGGCCTTGTCCAGCAGGTAG 0.687 7 22 --- --- --- --- PASS PRAMEF2 65122 broad.mit.edu 37 1 12921252 12921252 + Missense_Mutation SNP C A A rs150748226 by1000genomes TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:12921252C>A uc001aum.1 + 4 1130 c.1043C>A c.(1042-1044)GCT>GAT p.A348D NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 348 LRR 2. 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;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) GAGAAAATTGCTGCCTCTCTC 0.557 45 107 --- --- --- --- PASS PRAMEF4 400735 broad.mit.edu 37 1 12942116 12942116 + Missense_Mutation SNP C T T rs145911043 byFrequency TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:12942116C>T uc001aun.2 - 3 505 c.434G>A c.(433-435)GGA>GAA p.G145E NM_001009611 NP_001009611 O60810 PRAM4_HUMAN PRAME family member 4 145 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGGCTGCCGTCCTCTCATCCT 0.502 61 205 --- --- --- --- PASS DNAJC16 23341 broad.mit.edu 37 1 15894409 15894409 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:15894409G>T uc001aws.2 + 15 2206 c.2086G>T c.(2086-2088)GGT>TGT p.G696C DNAJC16_uc001awt.2_Missense_Mutation_p.G384C|DNAJC16_uc001awu.2_RNA NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 696 Extracellular (Potential). cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding urinary_tract(1)|lung(1)|kidney(1) 3 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TGACTACACTGGTTATGTACT 0.443 8 175 --- --- --- --- PASS UBR4 23352 broad.mit.edu 37 1 19403254 19403254 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:19403254G>A uc001bbi.2 - 105 15471 c.15467C>T c.(15466-15468)TCA>TTA p.S5156L UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.2_Missense_Mutation_p.S51L|UBR4_uc010ocv.1_Missense_Mutation_p.S679L|UBR4_uc009vph.2_Missense_Mutation_p.S811L|UBR4_uc010ocw.1_Missense_Mutation_p.S820L|UBR4_uc001bbg.2_Missense_Mutation_p.S867L|UBR4_uc001bbh.2_Missense_Mutation_p.S865L NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 5156 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) GAGGAACTCTGAGAAGGTCTC 0.527 98 237 --- --- --- --- PASS UBR4 23352 broad.mit.edu 37 1 19492186 19492186 + Missense_Mutation SNP T A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:19492186T>A uc001bbi.2 - 30 4179 c.4175A>T c.(4174-4176)CAG>CTG p.Q1392L UBR4_uc001bbm.1_Missense_Mutation_p.Q603L NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1392 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) TTTACGAGCCTGGCTACTTTC 0.433 15 46 --- --- --- --- PASS MATN1 4146 broad.mit.edu 37 1 31188829 31188829 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:31188829C>A uc001brz.2 - 5 1168 c.1134G>T c.(1132-1134)AAG>AAT p.K378N uc001bsb.1_5'Flank|MATN1_uc001bsa.1_Missense_Mutation_p.K296N NM_002379 NP_002370 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein precursor 378 VWFA 2. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1) 1 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) CAATGCCCACCTTCTGGGCCC 0.562 22 48 --- --- --- --- PASS ZSCAN20 7579 broad.mit.edu 37 1 33960553 33960553 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:33960553C>A uc001bxj.3 + 8 2776 c.2609C>A c.(2608-2610)TCA>TAA p.S870* ZSCAN20_uc009vui.2_Nonsense_Mutation_p.S869* NM_145238 NP_660281 P17040 ZSC20_HUMAN zinc finger protein 31 870 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AGCACAAACTCAGGGGAGAAA 0.438 8 265 --- --- --- --- PASS EIF2C3 192669 broad.mit.edu 37 1 36506013 36506013 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:36506013C>A uc001bzp.2 + 16 2399 c.2143C>A c.(2143-2145)CGA>AGA p.R715R EIF2C3_uc001bzq.2_Silent_p.R481R NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 715 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ACATCACACTCGATTATTTTG 0.368 4 68 --- --- --- --- PASS INPP5B 3633 broad.mit.edu 37 1 38338764 38338764 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:38338764G>C uc001ccg.1 - 19 2119 c.2025C>G c.(2023-2025)GAC>GAG p.D675E INPP5B_uc009vvk.1_Missense_Mutation_p.D616E|INPP5B_uc001ccf.1_Missense_Mutation_p.D511E NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 755 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CCTCAATTTTGTCTTCACCCG 0.418 40 61 --- --- --- --- PASS HIVEP3 59269 broad.mit.edu 37 1 41976621 41976621 + Missense_Mutation SNP C T T rs147749727 TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:41976621C>T uc001cgz.3 - 9 7935 c.6722G>A c.(6721-6723)CGA>CAA p.R2241Q HIVEP3_uc001cha.3_Missense_Mutation_p.R2240Q|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 2241 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CCAGCGGCCTCGCTCCTGGGC 0.692 15 14 --- --- --- --- PASS HIVEP3 59269 broad.mit.edu 37 1 42045798 42045798 + Silent SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:42045798C>T uc001cgz.3 - 4 5884 c.4671G>A c.(4669-4671)AAG>AAA p.K1557K HIVEP3_uc001cha.3_Silent_p.K1557K|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1557 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CAGGTTGTTCCTTGGAATCTT 0.542 23 54 --- --- --- --- PASS KIAA0467 23334 broad.mit.edu 37 1 43914311 43914311 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:43914311G>T uc001cjk.1 + 55 7763 c.7301G>T c.(7300-7302)TGG>TTG p.W2434L KIAA0467_uc001cjl.1_Missense_Mutation_p.W422L NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 3333 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ACGGTCTCCTGGTACCAGAGC 0.572 10 206 --- --- --- --- PASS PTPRF 5792 broad.mit.edu 37 1 44056897 44056897 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:44056897G>A uc001cjr.2 + 9 1544 c.1204G>A c.(1204-1206)GAG>AAG p.E402K PTPRF_uc001cjs.2_Missense_Mutation_p.E402K|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 402 Extracellular (Potential).|Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GCCGCCCAGCGAGGCAGTGCG 0.697 8 7 --- --- --- --- PASS TESK2 10420 broad.mit.edu 37 1 45821049 45821049 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:45821049G>C uc001cns.1 - 5 869 c.466C>G c.(466-468)CTG>GTG p.L156V TESK2_uc009vxr.1_Missense_Mutation_p.L156V|TESK2_uc010olo.1_Missense_Mutation_p.L73V|TESK2_uc009vxs.1_5'UTR NM_007170 NP_009101 Q96S53 TESK2_HUMAN testis-specific protein kinase 2 156 Protein kinase. actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(2)|pancreas(1) 5 Acute lymphoblastic leukemia(166;0.155) TCATAGGCCAGTTTTACCCTC 0.468 8 26 --- --- --- --- PASS TTC39A 22996 broad.mit.edu 37 1 51753897 51753897 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:51753897C>A uc001csl.2 - 18 1879 c.1774G>T c.(1774-1776)GCC>TCC p.A592S TTC39A_uc001csk.2_Missense_Mutation_p.A557S|TTC39A_uc010ond.1_Missense_Mutation_p.A529S|TTC39A_uc010one.1_Missense_Mutation_p.A556S|TTC39A_uc010onf.1_Missense_Mutation_p.A560S|TTC39A_uc001csj.2_Missense_Mutation_p.A193S NM_001080494 NP_001073963 Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A isoform 2 592 binding skin(1) 1 TGGAGTGTGGCTGCCTGGATT 0.512 5 86 --- --- --- --- PASS SLC1A7 6512 broad.mit.edu 37 1 53554564 53554564 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:53554564C>A uc001cuy.2 - 10 1617 c.1449G>T c.(1447-1449)CGG>CGT p.R483R SLC1A7_uc001cux.2_Silent_p.R136R NM_006671 NP_006662 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), 483 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|large_intestine(1) 3 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) TGCCTGTGTCCCGGGCAAAAT 0.547 17 38 --- --- --- --- PASS FGGY 55277 broad.mit.edu 37 1 59844452 59844452 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:59844452G>A uc001czi.3 + 5 709 c.497G>A c.(496-498)GGA>GAA p.G166E FGGY_uc001czg.2_Missense_Mutation_p.G54E|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.G166E|FGGY_uc001czj.3_Missense_Mutation_p.G166E|FGGY_uc001czk.3_Missense_Mutation_p.G54E|FGGY_uc001czl.3_Missense_Mutation_p.G78E NM_018291 NP_060761 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 166 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(1) 1 all_cancers(7;7.36e-05) GATAAGGCGGGACATTTCTTT 0.393 12 14 --- --- --- --- PASS HFM1 164045 broad.mit.edu 37 1 91778938 91778938 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:91778938G>A uc001doa.3 - 30 3459 c.3359C>T c.(3358-3360)TCA>TTA p.S1120L HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.S799L|HFM1_uc001dob.3_Missense_Mutation_p.S308L|HFM1_uc010osv.1_Missense_Mutation_p.S804L NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 1120 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) AGATATGTCTGAATGTTTAGA 0.328 7 19 --- --- --- --- PASS CNN3 1266 broad.mit.edu 37 1 95368960 95368960 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:95368960C>A uc010otw.1 - 3 260 c.178G>T c.(178-180)GAA>TAA p.E60* CNN3_uc010otv.1_Nonsense_Mutation_p.E19*|CNN3_uc001dqz.3_Nonsense_Mutation_p.E60*|CNN3_uc010otx.1_Nonsense_Mutation_p.E60* NM_001839 NP_001830 Q15417 CNN3_HUMAN calponin 3 60 CH. actomyosin structure organization|smooth muscle contraction actin binding|calmodulin binding|tropomyosin binding|troponin C binding 0 all_lung(203;0.00206)|Lung NSC(277;0.00948) all cancers(265;0.0325)|Epithelial(280;0.0861) GTAACTCACTCGCAGAGGATG 0.507 5 56 --- --- --- --- PASS FNDC7 163479 broad.mit.edu 37 1 109271508 109271508 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:109271508G>T uc001dvx.2 + 8 1624 c.1624G>T c.(1624-1626)GTG>TTG p.V542L FNDC7_uc010ova.1_Missense_Mutation_p.V309L NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 543 extracellular region ovary(1)|skin(1) 2 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) CCTGGAAACAGGTATGTAGCA 0.532 9 16 --- --- --- --- PASS GSTM4 2948 broad.mit.edu 37 1 110201701 110201701 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:110201701C>A uc001dyf.2 + 7 850 c.536C>A c.(535-537)CCA>CAA p.P179Q GSTM4_uc001dyg.2_Missense_Mutation_p.P75Q|GSTM4_uc009wfj.2_Missense_Mutation_p.P118Q|GSTM4_uc001dyh.2_Missense_Mutation_p.P179Q|GSTM2_uc001dyi.2_Intron NM_000850 NP_000841 Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 isoform 1 179 GST C-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity 0 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) GACGCCTTTCCAAATCTGAAG 0.498 9 367 --- --- --- --- PASS CSF1 1435 broad.mit.edu 37 1 110460061 110460061 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:110460061C>A uc001dyu.2 + 4 785 c.372C>A c.(370-372)ACC>ACA p.T124T CSF1_uc001dyt.2_Silent_p.T124T|CSF1_uc001dyv.3_Silent_p.T124T|CSF1_uc001dyw.3_Silent_p.T124T NM_172212 NP_757351 P09603 CSF1_HUMAN colony stimulating factor 1 isoform a precursor 124 Lumenal (Potential). cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) GCTGCTTCACCAAGGATTATG 0.557 8 261 --- --- --- --- PASS CD101 9398 broad.mit.edu 37 1 117556285 117556285 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:117556285C>G uc010oxb.1 + 4 1157 c.1099C>G c.(1099-1101)CTG>GTG p.L367V CD101_uc009whd.2_Missense_Mutation_p.L367V|CD101_uc010oxc.1_Missense_Mutation_p.L367V|CD101_uc010oxd.1_Missense_Mutation_p.L305V NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 367 Ig-like C2-type 3.|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 GATCTTCTCTCTGGGCCCAGA 0.517 14 42 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144873931 144873931 + Missense_Mutation SNP T C C rs137931320 byFrequency TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:144873931T>C uc001elw.3 - 31 5317 c.5026A>G c.(5026-5028)ATC>GTC p.I1676V NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.I1632V|PDE4DIP_uc001elv.3_Missense_Mutation_p.I683V NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1676 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GGCAAGCTGATGGGGTTGCTG 0.517 T PDGFRB MPD 31 248 --- --- --- --- PASS ITGA10 8515 broad.mit.edu 37 1 145531022 145531022 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:145531022G>T uc001eoa.2 + 7 830 c.754G>T c.(754-756)GCC>TCC p.A252S NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.A121S|ITGA10_uc009wiw.2_Missense_Mutation_p.A109S|ITGA10_uc010oyw.1_Missense_Mutation_p.A197S NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 252 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AATAATGGTGGCCTGGTGAGG 0.458 8 21 --- --- --- --- PASS ACP6 51205 broad.mit.edu 37 1 147126410 147126410 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:147126410C>A uc001epr.2 - 6 1143 c.679G>T c.(679-681)GGA>TGA p.G227* ACP6_uc009wjj.1_Nonsense_Mutation_p.G184* NM_016361 NP_057445 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic precursor 227 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding ovary(4) 4 all_hematologic(923;0.0276) TCTGAGATTCCTGGCTGTAAA 0.353 6 57 --- --- --- --- PASS FCGR1A 2209 broad.mit.edu 37 1 149761656 149761656 + Silent SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:149761656C>T uc001esp.3 + 5 656 c.606C>T c.(604-606)CTC>CTT p.L202L HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_Intron NM_000566 NP_000557 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor 202 Extracellular (Potential).|Ig-like C2-type 3. interferon-gamma-mediated signaling pathway|phagocytosis, engulfment integral to membrane|plasma membrane IgG binding|receptor activity|receptor signaling protein activity ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CATCCCCACTCCTGGAGGGGA 0.512 9 21 --- --- --- --- PASS MTMR11 10903 broad.mit.edu 37 1 149905510 149905510 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:149905510C>G uc001etl.3 - 9 1104 c.853G>C c.(853-855)GAT>CAT p.D285H MTMR11_uc001etm.1_Missense_Mutation_p.D213H|MTMR11_uc010pbm.1_Missense_Mutation_p.D257H|MTMR11_uc010pbn.1_Missense_Mutation_p.D127H NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 285 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CACCTGATATCCTCCTTGTTA 0.542 21 46 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152190884 152190884 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:152190884G>T uc001ezt.1 - 3 3297 c.3221C>A c.(3220-3222)TCT>TAT p.S1074Y NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1074 12. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCATGGGTAGAGGAATGACC 0.562 10 360 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152285051 152285051 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:152285051G>T uc001ezu.1 - 3 2347 c.2311C>A c.(2311-2313)CAT>AAT p.H771N uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 771 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTGCTGATGGTGACCAGCC 0.562 Ichthyosis 9 305 --- --- --- --- PASS KPRP 448834 broad.mit.edu 37 1 152732412 152732412 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:152732412G>T uc001fal.1 + 2 406 c.348G>T c.(346-348)GAG>GAT p.E116D NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 116 Gln-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCAATCTGAGGTGTCCTACG 0.502 10 395 --- --- --- --- PASS PGLYRP4 57115 broad.mit.edu 37 1 153318633 153318633 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:153318633C>A uc001fbo.2 - 3 149 c.84G>T c.(82-84)CAG>CAT p.Q28H PGLYRP4_uc001fbp.2_Missense_Mutation_p.Q28H NM_020393 NP_065126 Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein-I-beta 28 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3)|skin(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) CCTCTGATACCTGTTTAGCTT 0.488 7 190 --- --- --- --- PASS CLK2 1196 broad.mit.edu 37 1 155239429 155239429 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:155239429G>T uc001fjy.2 - 3 539 c.249C>A c.(247-249)AGC>AGA p.S83R RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.S83R|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Missense_Mutation_p.S83R NM_003993 NP_003984 P49760 CLK2_HUMAN CDC-like kinase 2 83 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCCGATCCCGGCTATAATCGT 0.527 Other_conserved_DNA_damage_response_genes 23 108 --- --- --- --- PASS ARHGEF11 9826 broad.mit.edu 37 1 156954202 156954202 + Missense_Mutation SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:156954202T>C uc001fqo.2 - 3 1192 c.152A>G c.(151-153)CAA>CGA p.Q51R ARHGEF11_uc001fqn.2_Missense_Mutation_p.Q51R NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 51 PDZ. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGGTCCTTTTGGATAATGAC 0.557 3 5 --- --- --- --- PASS FCRL5 83416 broad.mit.edu 37 1 157504490 157504490 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:157504490G>A uc001fqu.2 - 8 1753 c.1595C>T c.(1594-1596)ACT>ATT p.T532I FCRL5_uc009wsm.2_Missense_Mutation_p.T532I|FCRL5_uc010phv.1_Missense_Mutation_p.T532I|FCRL5_uc010phw.1_Missense_Mutation_p.T447I|FCRL5_uc001fqv.1_Missense_Mutation_p.T532I|FCRL5_uc010phx.1_Missense_Mutation_p.T283I NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 532 Extracellular (Potential).|Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) ATGTCCTTCAGTCAGAGAGAA 0.507 6 15 --- --- --- --- PASS PYHIN1 149628 broad.mit.edu 37 1 158914791 158914791 + Nonsense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:158914791C>T uc001ftb.2 + 7 1563 c.1318C>T c.(1318-1320)CAG>TAG p.Q440* PYHIN1_uc001ftc.2_Nonsense_Mutation_p.Q431*|PYHIN1_uc001ftd.2_Nonsense_Mutation_p.Q440*|PYHIN1_uc001fte.2_Nonsense_Mutation_p.Q431* NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 440 cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) CAAGACTCCTCAGATGCCACC 0.488 10 30 --- --- --- --- PASS OLFML2B 25903 broad.mit.edu 37 1 161967615 161967615 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:161967615C>A uc001gbu.2 - 6 1898 c.1474G>T c.(1474-1476)GGA>TGA p.G492* OLFML2B_uc010pkq.1_Nonsense_Mutation_p.G493* NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 492 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) ATGAACTTACCTATGACATTC 0.542 9 304 --- --- --- --- PASS ILDR2 387597 broad.mit.edu 37 1 166908752 166908752 + Silent SNP T A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:166908752T>A uc001gdx.1 - 4 611 c.555A>T c.(553-555)CCA>CCT p.P185P NM_199351 NP_955383 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 185 Extracellular (Potential). integral to membrane ovary(1) 1 ACCGAATACCTGGCATAATCT 0.413 12 30 --- --- --- --- PASS SMG7 9887 broad.mit.edu 37 1 183511607 183511607 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:183511607G>T uc001gqg.2 + 14 1934 c.1812G>T c.(1810-1812)CAG>CAT p.Q604H SMG7_uc010pob.1_Intron|SMG7_uc001gqf.2_Intron|SMG7_uc001gqh.2_Intron|SMG7_uc001gqi.2_Intron|SMG7_uc010poc.1_Missense_Mutation_p.Q562H NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 604 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 AAAAGTTACAGGAAACAGGAA 0.383 6 72 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186294905 186294905 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:186294905G>C uc001grv.2 - 42 6400 c.6103C>G c.(6103-6105)CAA>GAA p.Q2035E NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 2035 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CCACTGTTTTGAGAATCAGCA 0.338 T NTRK1 papillary thyroid 6 18 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186324872 186324872 + Silent SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:186324872T>C uc001grv.2 - 16 2214 c.1917A>G c.(1915-1917)GCA>GCG p.A639A NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 639 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TTGGAGTTGATGCAAGAGAAA 0.393 T NTRK1 papillary thyroid 22 31 --- --- --- --- PASS CFHR4 10877 broad.mit.edu 37 1 196882045 196882045 + Silent SNP T A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:196882045T>A uc001gto.2 + 3 501 c.432T>A c.(430-432)ATT>ATA p.I144I CFHR4_uc009wyy.2_Silent_p.I390I|CFHR4_uc001gtp.2_Silent_p.I391I NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 144 Sushi 2. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 CACAACCAATTTGCATTAGTA 0.308 13 23 --- --- --- --- PASS SHISA4 149345 broad.mit.edu 37 1 201859588 201859588 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:201859588G>A uc001gxa.2 + 3 343 c.252G>A c.(250-252)AAG>AAA p.K84K NM_198149 NP_937792 Q96DD7 SHSA4_HUMAN shisa homolog 4 precursor 84 Extracellular (Potential). integral to membrane 0 AAAGCCCCAAGACCATAGCAG 0.562 37 110 --- --- --- --- PASS SYT2 127833 broad.mit.edu 37 1 202571625 202571625 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:202571625C>A uc001gye.2 - 5 707 c.514G>T c.(514-516)GGA>TGA p.G172* SYT2_uc010pqb.1_Nonsense_Mutation_p.G172*|SYT2_uc009xaf.2_Nonsense_Mutation_p.G2* NM_001136504 NP_001129976 Q8N9I0 SYT2_HUMAN synaptotagmin II 172 Phospholipid binding (By similarity).|C2 1.|Cytoplasmic (Potential). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) GAGGTGCCTCCCATGTCCAGG 0.537 6 86 --- --- --- --- PASS PPFIA4 8497 broad.mit.edu 37 1 203036822 203036822 + Splice_Site SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:203036822G>C uc001gyz.2 + 13 2126 c.1533_splice c.e13-1 p.R511_splice PPFIA4_uc009xaj.2_Splice_Site_p.R1142_splice|PPFIA4_uc010pqf.1_Splice_Site_p.R724_splice|PPFIA4_uc001gza.2_Splice_Site_p.R502_splice|PPFIA4_uc001gzb.1_Splice_Site_p.R197_splice|PPFIA4_uc001gzc.1_Splice_Site_p.R53_splice NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 TGTGCCTGCAGAACCAGTCTT 0.562 19 34 --- --- --- --- PASS TMEM206 55248 broad.mit.edu 37 1 212558649 212558649 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:212558649G>A uc001hjc.3 - 4 630 c.462C>T c.(460-462)ATC>ATT p.I154I TMEM206_uc010pte.1_Silent_p.I215I NM_018252 NP_060722 Q9H813 TM206_HUMAN transmembrane protein 206 154 Extracellular (Potential). integral to membrane breast(1) 1 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) CCGTGTAGTTGATCCTCTGGG 0.577 10 68 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216052233 216052233 + Missense_Mutation SNP G A A rs111033529 TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:216052233G>A uc001hku.1 - 42 8818 c.8431C>T c.(8431-8433)CCT>TCT p.P2811S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2811 Fibronectin type-III 14.|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) ACATAGGTAGGTAAACTCTCT 0.443 HNSCC(13;0.011) 11 18 --- --- --- --- PASS ESRRG 2104 broad.mit.edu 37 1 216850693 216850693 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:216850693C>A uc001hkw.1 - 2 363 c.197G>T c.(196-198)GGG>GTG p.G66V ESRRG_uc001hky.1_Missense_Mutation_p.G43V|ESRRG_uc009xdp.1_Missense_Mutation_p.G43V|ESRRG_uc001hkz.1_Missense_Mutation_p.G43V|ESRRG_uc010puc.1_Missense_Mutation_p.G43V|ESRRG_uc001hla.1_Missense_Mutation_p.G43V|ESRRG_uc001hlb.1_Missense_Mutation_p.G43V|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.G43V|ESRRG_uc001hld.1_Missense_Mutation_p.G43V|ESRRG_uc001hkx.1_Missense_Mutation_p.G71V|ESRRG_uc009xdo.1_Missense_Mutation_p.G43V|ESRRG_uc001hle.1_Missense_Mutation_p.G43V NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 66 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) ACTGTAGCTCCCACTGGCGTC 0.577 10 21 --- --- --- --- PASS SIPA1L2 57568 broad.mit.edu 37 1 232607249 232607249 + Missense_Mutation SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:232607249T>C uc001hvg.2 - 6 2269 c.2111A>G c.(2110-2112)AAT>AGT p.N704S NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 704 Rap-GAP. 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) GACGATGTCATTTCCTATGTG 0.383 16 33 --- --- --- --- PASS KIAA1383 54627 broad.mit.edu 37 1 232942333 232942333 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:232942333C>G uc001hvh.2 + 1 1696 c.1564C>G c.(1564-1566)CAA>GAA p.Q522E NM_019090 NP_061963 Q9P2G4 K1383_HUMAN hypothetical protein LOC54627 380 ovary(1) 1 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) AGCAACTAATCAAACATGTCA 0.378 15 29 --- --- --- --- PASS HEATR1 55127 broad.mit.edu 37 1 236727825 236727825 + Silent SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:236727825G>C uc001hyd.1 - 32 4697 c.4572C>G c.(4570-4572)CTC>CTG p.L1524L HEATR1_uc009xgh.1_Silent_p.L686L NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 1524 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TGGAAGACAGGAGCTGAGACA 0.358 12 32 --- --- --- --- PASS ACTN2 88 broad.mit.edu 37 1 236917316 236917316 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:236917316C>T uc001hyf.2 + 16 2113 c.1909C>T c.(1909-1911)CGT>TGT p.R637C ACTN2_uc001hyg.2_Missense_Mutation_p.R429C|ACTN2_uc009xgi.1_Missense_Mutation_p.R637C|ACTN2_uc010pxu.1_Missense_Mutation_p.R326C|ACTN2_uc001hyh.2_Missense_Mutation_p.R325C NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 637 Spectrin 4. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TGCTAACGAGCGTCTGAGGCG 0.602 22 35 --- --- --- --- PASS MTR 4548 broad.mit.edu 37 1 236973829 236973829 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:236973829C>G uc001hyi.3 + 5 859 c.436C>G c.(436-438)CTG>GTG p.L146V MTR_uc010pxv.1_RNA|MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Missense_Mutation_p.L146V|MTR_uc010pxy.1_Missense_Mutation_p.L146V|MTR_uc009xgj.1_5'UTR NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 146 Hcy-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GGCAGGGGCTCTGGGTCCGAC 0.373 12 27 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240341241 240341241 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:240341241G>T uc010pyd.1 + 3 2028 c.1803G>T c.(1801-1803)TGG>TGT p.W601C FMN2_uc010pye.1_Missense_Mutation_p.W601C NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 601 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTTATACCTGGGCTGCAGTTA 0.388 14 21 --- --- --- --- PASS KMO 8564 broad.mit.edu 37 1 241712164 241712164 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:241712164G>C uc009xgp.2 + 2 155 c.90G>C c.(88-90)AGG>AGC p.R30S KMO_uc001hyy.2_Missense_Mutation_p.R30S|KMO_uc009xgo.1_Missense_Mutation_p.R30S NM_003679 NP_003670 O15229 KMO_HUMAN kynurenine 3-monooxygenase 30 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity ovary(2) 2 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) TTGCAAAGAGGAATTTCCAGA 0.279 9 31 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525429 248525429 + Silent SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:248525429C>T uc001ieh.1 + 1 547 c.547C>T c.(547-549)CTG>TTG p.L183L NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 183 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTGCTGGTTCCTGGGCTCAGT 0.542 27 77 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685389 248685389 + Missense_Mutation SNP G A A rs138151830 TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr1:248685389G>A uc001ien.1 + 1 442 c.442G>A c.(442-444)GCA>ACA p.A148T NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 148 Helical; Name=4; (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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGCCGGTGGAGCATGGCTCAG 0.577 9 23 --- --- --- --- PASS ATP6V1C2 245973 broad.mit.edu 37 2 10912726 10912726 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:10912726C>A uc002ras.2 + 8 737 c.628C>A c.(628-630)CGA>AGA p.R210R ATP6V1C2_uc002rat.2_Silent_p.R210R NM_001039362 NP_001034451 Q8NEY4 VATC2_HUMAN vacuolar H+ ATPase C2 isoform a 210 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GGTGGTCCCTCGATCAACCAA 0.512 7 348 --- --- --- --- PASS DNMT3A 1788 broad.mit.edu 37 2 25462032 25462032 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:25462032C>T uc002rgc.2 - 20 2632 c.2375G>A c.(2374-2376)CGC>CAC p.R792H DNMT3A_uc002rgd.2_Missense_Mutation_p.R792H|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.R603H NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 792 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.R792H(1) haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAGAAGTAGCGGGCCCTGTG 0.557 Mis|F|N|S AML 6 12 --- --- --- --- PASS SLC4A1AP 22950 broad.mit.edu 37 2 27900188 27900188 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:27900188G>C uc002rlk.3 + 7 1815 c.1533G>C c.(1531-1533)AGG>AGC p.R511S NM_018158 NP_060628 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), 511 Potential. cytoplasm|nucleus double-stranded RNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155) ATGCTGAAAGGGAACTTTCTG 0.259 4 23 --- --- --- --- PASS YIPF4 84272 broad.mit.edu 37 2 32517245 32517245 + Splice_Site SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:32517245G>T uc002rok.2 + 3 501 c.234_splice c.e3-1 p.L78_splice NM_032312 NP_115688 Q9BSR8 YIPF4_HUMAN Yip1 domain family, member 4 endoplasmic reticulum|integral to membrane protein binding 0 Acute lymphoblastic leukemia(172;0.155) taaaattataGGGAAGAATTG 0.284 4 9 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32738083 32738083 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:32738083C>T uc010ezu.2 + 54 10564 c.10430C>T c.(10429-10431)CCT>CTT p.P3477L NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3477 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TACATGTGTCCTAACTCCTCA 0.433 14 31 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32740349 32740349 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:32740349G>C uc010ezu.2 + 55 10995 c.10861G>C c.(10861-10863)GAA>CAA p.E3621Q NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3621 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TCAATCTCCTGAAGCTATTAA 0.408 11 40 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32774431 32774431 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:32774431C>G uc010ezu.2 + 65 13161 c.13027C>G c.(13027-13029)CAG>GAG p.Q4343E NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4343 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TGGAGAAGCTCAGTCATCTCA 0.418 3 41 --- --- --- --- PASS ABCG8 64241 broad.mit.edu 37 2 44099383 44099383 + Silent SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:44099383C>T uc002rtq.2 + 8 1239 c.1149C>T c.(1147-1149)ACC>ACT p.T383T ABCG8_uc010yoa.1_Silent_p.T382T NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 383 Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CACTAGACACCAACTGCCTCC 0.592 6 21 --- --- --- --- PASS SIX3 6496 broad.mit.edu 37 2 45169910 45169910 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:45169910G>C uc002run.1 + 1 874 c.667G>C c.(667-669)GAG>CAG p.E223Q NM_005413 NP_005404 O95343 SIX3_HUMAN SIX homeobox 3 223 Homeobox. visual perception nucleus 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CCTGTTGCGGGAGTGGTACCT 0.607 12 21 --- --- --- --- PASS EPCAM 4072 broad.mit.edu 37 2 47612328 47612328 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:47612328G>T uc002rvx.2 + 8 1240 c.882G>T c.(880-882)ATG>ATT p.M294I EPCAM_uc002rvw.2_Missense_Mutation_p.M322I NM_002354 NP_002345 P16422 EPCAM_HUMAN epithelial cell adhesion molecule precursor 294 Cytoplasmic (Potential). positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding skin(1) 1 AGAAGAGAATGGCAAAGTATG 0.353 Lynch_syndrome 8 167 --- --- --- --- PASS MSH2 4436 broad.mit.edu 37 2 47637275 47637275 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:47637275G>T uc002rvy.1 + 3 477 c.409G>T c.(409-411)GGT>TGT p.G137C MSH2_uc010yoh.1_Missense_Mutation_p.G71C|MSH2_uc002rvz.2_Missense_Mutation_p.G137C|MSH2_uc010fbg.2_5'UTR|MSH2_uc010fbf.1_Intron NM_000251 NP_000242 P43246 MSH2_HUMAN mutS homolog 2 137 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1) 55 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) cattctctttggtaacaatga 0.284 D|Mis|N|F|S colorectal|endometrial|ovarian colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 9 247 --- --- --- --- PASS CCDC88A 55704 broad.mit.edu 37 2 55529038 55529038 + Missense_Mutation SNP A T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:55529038A>T uc002ryv.2 - 27 5481 c.4639T>A c.(4639-4641)TTC>ATC p.F1547I CCDC88A_uc010yoz.1_Missense_Mutation_p.F1520I|CCDC88A_uc010ypa.1_Missense_Mutation_p.F1547I|CCDC88A_uc010fbw.2_Intron|CCDC88A_uc002ryu.2_Missense_Mutation_p.F802I|CCDC88A_uc002rys.2_Missense_Mutation_p.F505I|CCDC88A_uc002ryw.2_Missense_Mutation_p.F831I|CCDC88A_uc010fby.1_Missense_Mutation_p.F399I NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1548 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TTGGATCTGAAGCCTGCAGAA 0.393 24 46 --- --- --- --- PASS CCDC104 112942 broad.mit.edu 37 2 55771501 55771501 + Missense_Mutation SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:55771501T>C uc002ryy.2 + 9 1121 c.923T>C c.(922-924)GTA>GCA p.V308A CCDC104_uc002ryx.2_Missense_Mutation_p.V333A NM_080667 NP_542398 Q96G28 CC104_HUMAN coiled-coil domain containing 104 308 ovary(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACTGGGGAGGTAGAGGTATGG 0.378 7 19 --- --- --- --- PASS C2orf86 51057 broad.mit.edu 37 2 63631216 63631216 + Missense_Mutation SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:63631216T>C uc002sch.2 - 10 1848 c.1402A>G c.(1402-1404)AGA>GGA p.R468G C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.R309G|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.R276G|C2orf86_uc002sci.1_Missense_Mutation_p.R444G|C2orf86_uc010fcr.1_Missense_Mutation_p.R358G NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 468 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 AAAGGTCCTCTTTCAAACCTG 0.388 12 32 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73717530 73717530 + Nonsense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:73717530C>G uc002sje.1 + 12 8558 c.8447C>G c.(8446-8448)TCA>TGA p.S2816* ALMS1_uc002sjf.1_Nonsense_Mutation_p.S2772*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.S2202*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.S2202* NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2814 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TTAGAAAGATCAGATTTTACA 0.378 7 40 --- --- --- --- PASS MFSD9 84804 broad.mit.edu 37 2 103353166 103353166 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:103353166G>T uc002tcb.2 - 1 172 c.104C>A c.(103-105)GCC>GAC p.A35D TMEM182_uc002tcc.3_5'Flank|TMEM182_uc002tcd.3_5'Flank|MFSD9_uc010fja.2_RNA NM_032718 NP_116107 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 35 transmembrane transport integral to membrane|plasma membrane transporter activity ovary(2)|breast(2) 4 ACCGGAGTCGGCAGCCTCCGC 0.657 7 12 --- --- --- --- PASS NPHP1 4867 broad.mit.edu 37 2 110926116 110926116 + Silent SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:110926116G>T uc002tfn.3 - 6 631 c.537C>A c.(535-537)CTC>CTA p.L179L NPHP1_uc002tfm.3_Silent_p.L179L|NPHP1_uc002tfl.3_Silent_p.L179L|NPHP1_uc002tfo.3_Silent_p.L117L|NPHP1_uc010ywx.1_Silent_p.L179L|NPHP1_uc010fjv.1_Silent_p.L179L NM_207181 NP_997064 O15259 NPHP1_HUMAN nephrocystin 1 isoform 2 179 SH3. actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity ovary(2) 2 CAATTACAAGGAGAATTTCCC 0.338 5 29 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133618158 133618158 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:133618158C>G uc002ttp.2 - 11 1088 c.714G>C c.(712-714)TTG>TTC p.L238F NCKAP5_uc002ttq.2_Missense_Mutation_p.L238F NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 238 Potential. protein binding 0 CTCTTGTTTTCAACTTCACAC 0.393 4 4 --- --- --- --- PASS STAM2 10254 broad.mit.edu 37 2 152977291 152977291 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:152977291G>C uc002tyc.3 - 14 1725 c.1375C>G c.(1375-1377)CCT>GCT p.P459A NM_005843 NP_005834 O75886 STAM2_HUMAN signal transducing adaptor molecule 2 459 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.22) ATATAAGTAGGATTGGAAACA 0.353 3 30 --- --- --- --- PASS KCNJ3 3760 broad.mit.edu 37 2 155555379 155555379 + Missense_Mutation SNP A T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:155555379A>T uc002tyv.1 + 1 287 c.92A>T c.(91-93)CAG>CTG p.Q31L KCNJ3_uc010zce.1_Missense_Mutation_p.Q31L NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 31 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) GGGCCAGGCCAGGACCCTCAG 0.597 5 21 --- --- --- --- PASS ACVR1 90 broad.mit.edu 37 2 158622653 158622653 + Silent SNP A G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:158622653A>G uc002tzm.3 - 9 1185 c.846T>C c.(844-846)ATT>ATC p.I282I ACVR1_uc002tzn.3_Silent_p.I282I|ACVR1_uc010fog.2_Silent_p.I282I NM_001111067 NP_001104537 Q04771 ACVR1_HUMAN activin A receptor, type I precursor 282 Cytoplasmic (Potential).|Protein kinase. BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) GATAATGTGTAATTAACCACA 0.408 10 38 --- --- --- --- PASS MYO3B 140469 broad.mit.edu 37 2 171073828 171073828 + Splice_Site SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:171073828G>T uc002ufy.2 + 6 670 c.527_splice c.e6-1 p.G176_splice MYO3B_uc002ufv.2_Splice_Site_p.G163_splice|MYO3B_uc010fqb.1_Splice_Site_p.G163_splice|MYO3B_uc002ufz.2_Splice_Site_p.G176_splice|MYO3B_uc002ufw.2_Splice_Site|MYO3B_uc002ufx.2_Splice_Site|MYO3B_uc002uga.2_Splice_Site_p.G163_splice NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 TTTCCTTATAGGTGTTTCAGC 0.348 7 133 --- --- --- --- PASS DIRC1 116093 broad.mit.edu 37 2 189599468 189599468 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:189599468G>A uc002uqi.1 - 2 451 c.180C>T c.(178-180)ATC>ATT p.I60I NM_052952 NP_443184 Q969H9 DIRC1_HUMAN disrupted in renal carcinoma 1 60 0 OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102) TGTCTGAGATGATGGAAGGCT 0.428 7 32 --- --- --- --- PASS RAPH1 65059 broad.mit.edu 37 2 204305807 204305807 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:204305807C>A uc002vad.2 - 14 2331 c.2106G>T c.(2104-2106)CTG>CTT p.L702L NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 702 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1) 10 TGGGGGGTACCAGGATCTGAG 0.468 5 30 --- --- --- --- PASS MAP2 4133 broad.mit.edu 37 2 210559534 210559534 + Silent SNP A G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:210559534A>G uc002vde.1 + 7 2888 c.2640A>G c.(2638-2640)CCA>CCG p.P880P MAP2_uc002vdc.1_Silent_p.P880P|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.P876P NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 880 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TCCCATTGCCATCACCTGTTC 0.458 5 21 --- --- --- --- PASS TNS1 7145 broad.mit.edu 37 2 218682908 218682908 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:218682908G>T uc002vgt.2 - 24 4233 c.3835C>A c.(3835-3837)CAC>AAC p.H1279N TNS1_uc002vgr.2_Missense_Mutation_p.H1266N|TNS1_uc002vgs.2_Missense_Mutation_p.H1258N|TNS1_uc010zjv.1_Missense_Mutation_p.H1258N NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 1279 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TTGCCTTGGTGAGCCCCAGGG 0.657 6 14 --- --- --- --- PASS PRKAG3 53632 broad.mit.edu 37 2 219688495 219688495 + Missense_Mutation SNP A T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:219688495A>T uc002vjb.1 - 13 1479 c.1460T>A c.(1459-1461)CTC>CAC p.L487H NM_017431 NP_059127 Q9UGI9 AAKG3_HUMAN AMP-activated protein kinase, non-catalytic 487 ALGA -> PSGPEKI (in Ref. 1; CAB65117). cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding ovary(1)|lung(1) 2 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCAGGCCCCGAGGGCATCGAT 0.602 29 77 --- --- --- --- PASS CCDC108 255101 broad.mit.edu 37 2 219878615 219878615 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:219878615C>G uc002vjl.1 - 22 3838 c.3754G>C c.(3754-3756)GAG>CAG p.E1252Q NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 1252 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCATCTGCTCCTGCCCAGGA 0.567 6 25 --- --- --- --- PASS TUBA4A 7277 broad.mit.edu 37 2 220115077 220115077 + Silent SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:220115077T>C uc002vkt.1 - 4 1402 c.1344A>G c.(1342-1344)GAA>GAG p.E448E TUBA4A_uc010zkz.1_Silent_p.E433E|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank NM_006000 NP_005991 P68366 TBA4A_HUMAN tubulin, alpha 4a 448 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3) 3 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGCTTTATTCTTCTCCCT 0.493 57 157 --- --- --- --- PASS PAX3 5077 broad.mit.edu 37 2 223066140 223066140 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:223066140G>T uc002vmt.1 - 9 1808 c.1442C>A c.(1441-1443)CCA>CAA p.P481Q PAX3_uc002vmy.1_Missense_Mutation_p.P480Q|PAX3_uc002vmv.1_Missense_Mutation_p.P481Q|PAX3_uc002vmw.1_Missense_Mutation_p.Q399K|PAX3_uc002vmx.1_Missense_Mutation_p.Q399K NM_181459 NP_852124 P23760 PAX3_HUMAN paired box 3 isoform PAX3e Error:Variant_position_missing_in_P23760_after_alignment apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGCGATATCTGGCTTGAGATA 0.453 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 16 59 --- --- --- --- PASS KIAA1486 57624 broad.mit.edu 37 2 226446968 226446968 + Missense_Mutation SNP T G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:226446968T>G uc002voe.2 + 4 1010 c.835T>G c.(835-837)TTG>GTG p.L279V KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.L49V NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 279 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) CTTTGACGACTTGGGCCAAGA 0.547 27 84 --- --- --- --- PASS TRIP12 9320 broad.mit.edu 37 2 230678991 230678991 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:230678991C>A uc002vpw.1 - 11 1747 c.1638G>T c.(1636-1638)TTG>TTT p.L546F TRIP12_uc002vpx.1_Missense_Mutation_p.L594F|TRIP12_uc002vpy.1_Missense_Mutation_p.L249F|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.L552F NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 546 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) ACAACATCTCCAAGGCAGTCA 0.393 6 61 --- --- --- --- PASS SP100 6672 broad.mit.edu 37 2 231404037 231404037 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:231404037G>T uc002vqu.1 + 25 2291 c.2150G>T c.(2149-2151)TGC>TTC p.C717F SP100_uc010fxp.1_Missense_Mutation_p.C35F NM_001080391 NP_001073860 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 1 Error:Variant_position_missing_in_P23497_after_alignment DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CTGTTCTGCTGCGACACTTGT 0.507 16 49 --- --- --- --- PASS DGKD 8527 broad.mit.edu 37 2 234356821 234356821 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:234356821C>A uc002vui.1 + 13 1520 c.1508C>A c.(1507-1509)TCG>TAG p.S503* DGKD_uc002vuj.1_Nonsense_Mutation_p.S459*|DGKD_uc010fyh.1_Nonsense_Mutation_p.S370*|DGKD_uc010fyi.1_RNA NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 503 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GTCATCTCCTCGGCCAAGTGA 0.582 4 56 --- --- --- --- PASS ASB18 401036 broad.mit.edu 37 2 237172907 237172907 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:237172907C>G uc010znh.1 - 1 82 c.82G>C c.(82-84)GAT>CAT p.D28H NM_212556 NP_997721 Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box-containing 18 28 intracellular signal transduction ovary(1) 1 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) CTCTCCTCATCTTTGGCATCC 0.488 24 47 --- --- --- --- PASS GADL1 339896 broad.mit.edu 37 3 30842474 30842474 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:30842474C>T uc003cep.2 - 12 1204 c.1157G>A c.(1156-1158)AGA>AAA p.R386K GADL1_uc003ceq.1_Missense_Mutation_p.R386K NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 386 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) ATCTGGTCTTCTGCTACACTG 0.438 12 14 --- --- --- --- PASS DYNC1LI1 51143 broad.mit.edu 37 3 32574570 32574570 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:32574570C>G uc003cfb.3 - 8 1076 c.988G>C c.(988-990)GAT>CAT p.D330H DYNC1LI1_uc011axh.1_Missense_Mutation_p.D214H NM_016141 NP_057225 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 330 cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole ATP binding|motor activity ovary(1) 1 ATTTTCTTATCATTATCCCAC 0.303 9 25 --- --- --- --- PASS CX3CR1 1524 broad.mit.edu 37 3 39306949 39306949 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:39306949G>A uc003cjl.2 - 2 1144 c.1052C>T c.(1051-1053)GCA>GTA p.A351V NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 351 Cytoplasmic (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) AAGGAGCAATGCATCTCCATC 0.458 71 86 --- --- --- --- PASS DOCK3 1795 broad.mit.edu 37 3 51400047 51400047 + Silent SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:51400047G>C uc011bds.1 + 49 5258 c.5235G>C c.(5233-5235)CTG>CTC p.L1745L NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1745 Ser-rich. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CCTCCAGCCTGAGTTCCACTC 0.572 13 20 --- --- --- --- PASS WDR52 55779 broad.mit.edu 37 3 113135375 113135375 + Silent SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:113135375G>T uc003eae.1 - 6 716 c.670C>A c.(670-672)CGA>AGA p.R224R NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 224 central_nervous_system(1) 1 GACTCACCTCGAAGGACTCTG 0.313 3 11 --- --- --- --- PASS ZNF80 7634 broad.mit.edu 37 3 113955552 113955552 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:113955552G>C uc010hqo.2 - 1 874 c.370C>G c.(370-372)CGC>GGC p.R124G ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 124 C2H2-type 3; atypical. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) TGAATCTGGCGGTAGCACAGG 0.562 16 46 --- --- --- --- PASS NR1I2 8856 broad.mit.edu 37 3 119530414 119530414 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:119530414G>C uc003edj.2 + 4 2199 c.360G>C c.(358-360)GAG>GAC p.E120D NR1I2_uc003edi.2_Missense_Mutation_p.E120D|NR1I2_uc003edk.2_Missense_Mutation_p.E159D|NR1I2_uc003edl.2_Missense_Mutation_p.E8D NM_003889 NP_003880 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 120 Hinge. drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) CCGTGGAGGAGAGGCGGGCCT 0.632 8 22 --- --- --- --- PASS STXBP5L 9515 broad.mit.edu 37 3 120876471 120876471 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:120876471C>G uc003eec.3 + 9 1014 c.874C>G c.(874-876)CAT>GAT p.H292D STXBP5L_uc011bji.1_Missense_Mutation_p.H292D NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 292 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) CACAATTCCACATGGTAAGAT 0.413 4 27 --- --- --- --- PASS PARP14 54625 broad.mit.edu 37 3 122447289 122447289 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:122447289G>T uc003efq.3 + 17 5310 c.5251G>T c.(5251-5253)GGA>TGA p.G1751* PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Nonsense_Mutation_p.G1468* NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1751 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) CTATACACATGGAAATCATTC 0.393 8 117 --- --- --- --- PASS PIK3R4 30849 broad.mit.edu 37 3 130463401 130463401 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:130463401G>A uc003enj.2 - 2 1243 c.662C>T c.(661-663)CCG>CTG p.P221L NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 221 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 GTCTACAAGCGGAGTTGAAGG 0.428 22 73 --- --- --- --- PASS MRPL3 11222 broad.mit.edu 37 3 131220414 131220414 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:131220414G>T uc003eoh.2 - 2 402 c.238C>A c.(238-240)CTG>ATG p.L80M MRPL3_uc011blo.1_Translation_Start_Site|MRPL3_uc011blp.1_Missense_Mutation_p.L107M NM_007208 NP_009139 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 80 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome 0 TCATCTTTCAGAGGACACAGT 0.398 8 205 --- --- --- --- PASS DNAJC13 23317 broad.mit.edu 37 3 132185186 132185186 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:132185186C>A uc003eor.2 + 19 2077 c.2012C>A c.(2011-2013)CCT>CAT p.P671H DNAJC13_uc010htq.1_Missense_Mutation_p.P671H NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 671 heat shock protein binding ovary(1)|breast(1) 2 GATCTCGTACCTGAGAAGGAT 0.393 6 54 --- --- --- --- PASS TF 7018 broad.mit.edu 37 3 133478162 133478162 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:133478162G>T uc003epu.1 + 14 2920 c.1192G>T c.(1192-1194)GCC>TCC p.A398S TF_uc011blt.1_Missense_Mutation_p.A271S|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.A398S NM_001063 NP_001054 P02787 TRFE_HUMAN transferrin precursor 398 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding ovary(1)|skin(1) 2 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) AGACTGCATCGCCAAGATCAT 0.547 53 64 --- --- --- --- PASS SLCO2A1 6578 broad.mit.edu 37 3 133666218 133666218 + Missense_Mutation SNP A G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:133666218A>G uc003eqa.3 - 9 1451 c.1177T>C c.(1177-1179)TCT>CCT p.S393P SLCO2A1_uc003eqb.3_Missense_Mutation_p.S317P|SLCO2A1_uc011blv.1_Missense_Mutation_p.S212P NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, 393 Helical; Name=9; (Potential). sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 GCTTGTAGAGAGAAAACAAAG 0.507 13 51 --- --- --- --- PASS MSL2 55167 broad.mit.edu 37 3 135870092 135870092 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:135870092C>A uc003eqx.1 - 2 2364 c.1631G>T c.(1630-1632)AGT>ATT p.S544I MSL2_uc011bmb.1_Missense_Mutation_p.S470I NM_018133 NP_060603 Q9HCI7 MSL2_HUMAN ring finger protein 184 isoform 1 544 histone H4-K16 acetylation MSL complex zinc ion binding central_nervous_system(1) 1 ATTTATTACACTGGTGCTGGT 0.473 11 56 --- --- --- --- PASS A4GNT 51146 broad.mit.edu 37 3 137843236 137843236 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:137843236C>T uc003ers.2 - 3 1095 c.893G>A c.(892-894)CGG>CAG p.R298Q NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 298 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1) 1 AATCACAGCCCGCCCCTCCTG 0.517 16 66 --- --- --- --- PASS ESYT3 83850 broad.mit.edu 37 3 138183263 138183263 + Nonsense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:138183263C>G uc003esk.2 + 9 1218 c.992C>G c.(991-993)TCA>TGA p.S331* ESYT3_uc010hug.2_RNA NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN family with sequence similarity 62 (C2 domain 331 C2 1. integral to membrane|plasma membrane 0 CGAGGCAAGTCAGATCCCTAC 0.572 20 37 --- --- --- --- PASS ZBTB38 253461 broad.mit.edu 37 3 141163129 141163129 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:141163129G>T uc003etw.2 + 8 2881 c.1899G>T c.(1897-1899)TTG>TTT p.L633F ZBTB38_uc010hun.2_Missense_Mutation_p.L630F|ZBTB38_uc010huo.2_Missense_Mutation_p.L633F|ZBTB38_uc003ety.2_Missense_Mutation_p.L633F|ZBTB38_uc010hup.2_Missense_Mutation_p.L634F NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 633 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CCATCCCATTGGAAACATCTG 0.448 7 114 --- --- --- --- PASS XRN1 54464 broad.mit.edu 37 3 142116193 142116193 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:142116193C>G uc003eus.2 - 20 2384 c.2317G>C c.(2317-2319)GAA>CAA p.E773Q XRN1_uc010huu.2_Missense_Mutation_p.E239Q|XRN1_uc003eut.2_Missense_Mutation_p.E773Q|XRN1_uc003euu.2_Missense_Mutation_p.E773Q|XRN1_uc003euv.1_Missense_Mutation_p.E634Q NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 773 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 CCTTGTACTTCTTTTGCCCAG 0.358 5 21 --- --- --- --- PASS TNIK 23043 broad.mit.edu 37 3 170811686 170811686 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:170811686G>T uc003fhh.2 - 23 3008 c.2663C>A c.(2662-2664)TCT>TAT p.S888Y TNIK_uc003fhi.2_Missense_Mutation_p.S833Y|TNIK_uc003fhj.2_Missense_Mutation_p.S859Y|TNIK_uc003fhk.2_Missense_Mutation_p.S880Y|TNIK_uc003fhl.2_Missense_Mutation_p.S804Y|TNIK_uc003fhm.2_Missense_Mutation_p.S825Y|TNIK_uc003fhn.2_Missense_Mutation_p.S851Y|TNIK_uc003fho.2_Missense_Mutation_p.S796Y|TNIK_uc003fhg.2_Missense_Mutation_p.S66Y NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 888 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GTCCGCATGAGAGGTCTCCAG 0.478 7 88 --- --- --- --- PASS MRPL47 57129 broad.mit.edu 37 3 179316559 179316559 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:179316559C>A uc003fjz.2 - 4 328 c.306G>T c.(304-306)TGG>TGT p.W102C MRPL47_uc003fka.2_5'UTR|MRPL47_uc003fkb.2_Missense_Mutation_p.W82C NM_020409 NP_065142 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 isoform a 102 translation mitochondrial ribosome structural constituent of ribosome 0 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) GTAAGACATACCTATACAAAA 0.383 10 62 --- --- --- --- PASS ABCF3 55324 broad.mit.edu 37 3 183905548 183905548 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:183905548C>A uc003fmz.2 + 5 578 c.445C>A c.(445-447)CTA>ATA p.L149I ABCF3_uc003fna.2_Missense_Mutation_p.L143I|ABCF3_uc003fnb.2_5'Flank NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), 149 ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAGCAACCCTCTGTGAGTGGG 0.522 6 116 --- --- --- --- PASS TMEM207 131920 broad.mit.edu 37 3 190165606 190165606 + Nonsense_Mutation SNP G T T rs138370145 TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:190165606G>T uc003fsj.2 - 2 153 c.86C>A c.(85-87)TCG>TAG p.S29* NM_207316 NP_997199 Q6UWW9 TM207_HUMAN transmembrane protein 207 precursor 29 integral to membrane 0 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.0176) TGGTAGGTCCGAGAGCACCAA 0.353 5 96 --- --- --- --- PASS FGF12 2257 broad.mit.edu 37 3 191888416 191888416 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:191888416C>A uc003fsx.2 - 4 1270 c.444G>T c.(442-444)AAG>AAT p.K148N FGF12_uc003fsy.2_Missense_Mutation_p.K86N NM_021032 NP_066360 P61328 FGF12_HUMAN fibroblast growth factor 12 isoform 1 148 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding ovary(1)|skin(1)|lung(1)|pancreas(1) 4 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) ACACAGATTCCTTGAATTTGC 0.373 7 152 --- --- --- --- PASS FYTTD1 84248 broad.mit.edu 37 3 197501077 197501077 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:197501077C>A uc003fyi.2 + 6 871 c.652C>A c.(652-654)CGT>AGT p.R218S FYTTD1_uc011bui.1_Missense_Mutation_p.R192S|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_Missense_Mutation_p.R151S NM_032288 NP_115664 Q96QD9 UIF_HUMAN forty-two-three domain containing 1 isoform 1 218 mRNA export from nucleus nuclear speck mRNA binding|protein binding 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) AAAGAGAACTCGTCAGTAAGT 0.383 6 200 --- --- --- --- PASS EVC 2121 broad.mit.edu 37 4 5733382 5733382 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:5733382G>A uc003gil.1 + 4 799 c.615G>A c.(613-615)GAG>GAA p.E205E EVC_uc003gim.1_RNA NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 205 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) TGGCCTGCGAGAGGTAAGGAG 0.517 7 10 --- --- --- --- PASS SH3TC1 54436 broad.mit.edu 37 4 8226901 8226901 + Splice_Site SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:8226901G>A uc003gkv.3 + 11 1345 c.1244_splice c.e11-1 p.D415_splice SH3TC1_uc003gkw.3_Splice_Site_p.D339_splice|SH3TC1_uc003gkx.3_Splice_Site NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 binding large_intestine(2)|pancreas(1) 3 TCCCTTGCCAGACTCAGTAGA 0.562 6 8 --- --- --- --- PASS CLRN2 645104 broad.mit.edu 37 4 17517142 17517142 + Missense_Mutation SNP A G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:17517142A>G uc003gpg.1 + 1 355 c.253A>G c.(253-255)ATC>GTC p.I85V NM_001079827 NP_001073296 A0PK11 CLRN2_HUMAN clarin 2 85 integral to membrane 0 CCAATTCACGAGTGAGTATAT 0.488 5 15 --- --- --- --- PASS PCDH7 5099 broad.mit.edu 37 4 30723409 30723409 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:30723409G>T uc003gsk.1 + 1 1373 c.365G>T c.(364-366)AGC>ATC p.S122I PCDH7_uc011bxw.1_Missense_Mutation_p.S122I|PCDH7_uc011bxx.1_Missense_Mutation_p.S122I NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 122 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 CCCTCGCAGAGCTGGGTGGAC 0.612 7 5 --- --- --- --- PASS N4BP2 55728 broad.mit.edu 37 4 40123493 40123493 + Silent SNP A G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:40123493A>G uc003guy.3 + 9 4100 c.3762A>G c.(3760-3762)CTA>CTG p.L1254L N4BP2_uc010ifq.2_Silent_p.L1174L|N4BP2_uc010ifr.2_Silent_p.L1174L NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 1254 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 CAGGTATTCTAAAAGCTACTA 0.373 17 15 --- --- --- --- PASS GABRB1 2560 broad.mit.edu 37 4 47408751 47408751 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:47408751C>A uc003gxh.2 + 8 1262 c.888C>A c.(886-888)ACC>ACA p.T296T GABRB1_uc011bze.1_Silent_p.T226T NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 296 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 ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TCAGGGAGACCCTGCCAAAGA 0.438 6 14 --- --- --- --- PASS CORIN 10699 broad.mit.edu 37 4 47765446 47765446 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:47765446C>A uc003gxm.2 - 4 660 c.567G>T c.(565-567)CTG>CTT p.L189L CORIN_uc011bzf.1_Silent_p.L50L|CORIN_uc011bzg.1_Silent_p.L122L|CORIN_uc011bzh.1_Silent_p.L189L|CORIN_uc011bzi.1_Silent_p.L189L|CORIN_uc003gxn.3_Silent_p.L189L NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 189 Extracellular (Potential).|FZ 1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 TACAGCCAAACAGCATGATAT 0.438 4 7 --- --- --- --- PASS UGT2B28 54490 broad.mit.edu 37 4 70156481 70156481 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:70156481C>T uc003hej.2 + 5 1264 c.1262C>T c.(1261-1263)TCG>TTG p.S421L UGT2B28_uc010ihr.2_Intron NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 421 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) CACACAATGTCGAGTACAGAC 0.423 7 19 --- --- --- --- PASS UTP3 57050 broad.mit.edu 37 4 71555257 71555257 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:71555257G>T uc003hfo.2 + 1 1062 c.863G>T c.(862-864)AGG>ATG p.R288M NM_020368 NP_065101 Q9NQZ2 SAS10_HUMAN UTP3, small subunit processome component 288 brain development|chromatin modification|gene silencing nucleolus 0 Lung(101;0.235) CTGAAAGCTAGGAGAGTCCCA 0.433 10 364 --- --- --- --- PASS MTHFD2L 441024 broad.mit.edu 37 4 75040299 75040299 + Missense_Mutation SNP T A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:75040299T>A uc003hhn.1 + 5 564 c.46T>A c.(46-48)TGG>AGG p.W16R MTHFD2L_uc011cbj.1_Missense_Mutation_p.W16R|MTHFD2L_uc011cbk.1_Missense_Mutation_p.W74R|MTHFD2L_uc003hho.2_RNA|MTHFD2L_uc003hhs.2_RNA NM_001144978 NP_001138450 Q9H903 MTD2L_HUMAN methylenetetrahydrofolate dehydrogenase 2-like 16 folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity ovary(1)|central_nervous_system(1) 2 all cancers(17;0.0101)|Lung(101;0.196) TGTGGAATCATGGGTTTCCCT 0.408 23 9 --- --- --- --- PASS MTHFD2L 441024 broad.mit.edu 37 4 75040300 75040300 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:75040300G>T uc003hhn.1 + 5 565 c.47G>T c.(46-48)TGG>TTG p.W16L MTHFD2L_uc011cbj.1_Missense_Mutation_p.W16L|MTHFD2L_uc011cbk.1_Missense_Mutation_p.W74L|MTHFD2L_uc003hho.2_RNA|MTHFD2L_uc003hhs.2_RNA NM_001144978 NP_001138450 Q9H903 MTD2L_HUMAN methylenetetrahydrofolate dehydrogenase 2-like 16 folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity ovary(1)|central_nervous_system(1) 2 all cancers(17;0.0101)|Lung(101;0.196) GTGGAATCATGGGTTTCCCTT 0.408 24 8 --- --- --- --- PASS BTC 685 broad.mit.edu 37 4 75675877 75675877 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:75675877G>T uc003hig.2 - 4 681 c.334C>A c.(334-336)CTA>ATA p.L112I NM_001729 NP_001720 P35070 BTC_HUMAN betacellulin precursor 112 Extracellular (Potential). positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|skin(1) 2 Lung(101;0.219) TCTCCTCTTAGGTAAAACAAG 0.398 8 273 --- --- --- --- PASS G3BP2 9908 broad.mit.edu 37 4 76582779 76582779 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:76582779C>G uc003hir.2 - 4 478 c.313G>C c.(313-315)GAA>CAA p.E105Q G3BP2_uc003his.2_Missense_Mutation_p.E105Q|G3BP2_uc003hit.2_Missense_Mutation_p.E105Q NM_012297 NP_036429 Q9UN86 G3BP2_HUMAN Ras-GTPase activating protein SH3 domain-binding 105 NTF2. cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(2)|central_nervous_system(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AACTTTCTTTCTGGTTGTCCA 0.398 33 390 --- --- --- --- PASS PPEF2 5470 broad.mit.edu 37 4 76782018 76782018 + Missense_Mutation SNP C A A rs148045586 TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:76782018C>A uc003hix.2 - 17 2421 c.2064G>T c.(2062-2064)ATG>ATT p.M688I PPEF2_uc003hiy.2_RNA NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 688 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGTCGATATTCATGTGAGAGC 0.453 23 284 --- --- --- --- PASS SHROOM3 57619 broad.mit.edu 37 4 77661234 77661234 + Silent SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:77661234C>G uc011cbx.1 + 5 2861 c.1908C>G c.(1906-1908)GCC>GCG p.A636A SHROOM3_uc011cbz.1_Silent_p.A460A|SHROOM3_uc003hkf.1_Silent_p.A511A|SHROOM3_uc003hkg.2_Silent_p.A414A NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 636 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) ACCACAATGCCAACCTCTGGA 0.567 8 445 --- --- --- --- PASS AFF1 4299 broad.mit.edu 37 4 88035792 88035792 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:88035792C>G uc003hqj.3 + 11 2193 c.1786C>G c.(1786-1788)CAA>GAA p.Q596E AFF1_uc011ccz.1_Missense_Mutation_p.Q603E|AFF1_uc003hqk.3_Missense_Mutation_p.Q596E|AFF1_uc011cda.1_Missense_Mutation_p.Q234E NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 596 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) GGAGCCCCCACAAAGGCAAAC 0.637 16 27 --- --- --- --- PASS SPP1 6696 broad.mit.edu 37 4 88903701 88903701 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:88903701G>A uc003hra.2 + 7 763 c.598G>A c.(598-600)GGT>AGT p.G200S SPP1_uc003hrb.2_Missense_Mutation_p.G173S|SPP1_uc003hrc.2_Missense_Mutation_p.G186S|SPP1_uc011cde.1_Missense_Mutation_p.G213S|SPP1_uc003hrd.2_Missense_Mutation_p.G159S NM_001040058 NP_001035147 P10451 OSTP_HUMAN secreted phosphoprotein 1 isoform a 200 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity ovary(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) GGAGTTGAATGGTGCATACAA 0.507 17 37 --- --- --- --- PASS SMARCAD1 56916 broad.mit.edu 37 4 95204388 95204388 + Missense_Mutation SNP A T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:95204388A>T uc003htc.3 + 22 3098 c.2843A>T c.(2842-2844)GAT>GTT p.D948V SMARCAD1_uc003htb.3_Missense_Mutation_p.D950V|SMARCAD1_uc003htd.3_Missense_Mutation_p.D950V|SMARCAD1_uc010ila.2_Missense_Mutation_p.D813V|SMARCAD1_uc011cdw.1_Missense_Mutation_p.D518V NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 948 Helicase C-terminal. chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) ATACTTCACGATATTGACTGT 0.333 33 58 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114280136 114280136 + Missense_Mutation SNP G T T rs55726422 TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:114280136G>T uc003ibe.3 + 38 10462 c.10362G>T c.(10360-10362)AGG>AGT p.R3454S ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.R756S|ANK2_uc011cgb.1_Missense_Mutation_p.R3469S NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3421 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTTCCTGCAGGGGGGGCACGA 0.448 12 29 --- --- --- --- PASS UGT8 7368 broad.mit.edu 37 4 115544119 115544119 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:115544119C>A uc003ibs.2 + 2 605 c.83C>A c.(82-84)CCA>CAA p.P28Q UGT8_uc003ibt.2_Missense_Mutation_p.P28Q|UGT8_uc011cge.1_RNA NM_001128174 NP_001121646 Q16880 CGT_HUMAN UDP-galactose-ceramide galactosyltransferase 8 28 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity ovary(1)|skin(1) 2 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) ATCGTGCCGCCAATTATGTTT 0.468 5 17 --- --- --- --- PASS TBC1D9 23158 broad.mit.edu 37 4 141578722 141578722 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:141578722C>G uc010ioj.2 - 12 2438 c.2166G>C c.(2164-2166)TTG>TTC p.L722F NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 722 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CCTTGCAGTTCAACAGTTTGT 0.438 38 110 --- --- --- --- PASS LRBA 987 broad.mit.edu 37 4 151604779 151604779 + Missense_Mutation SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:151604779T>C uc010ipj.2 - 37 6319 c.5845A>G c.(5845-5847)ACA>GCA p.T1949A LRBA_uc003ilt.3_Missense_Mutation_p.T608A|LRBA_uc003ilu.3_Missense_Mutation_p.T1949A NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1949 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TGAGTTGCTGTCACGTGGTCA 0.428 10 28 --- --- --- --- PASS WWC2 80014 broad.mit.edu 37 4 184233499 184233499 + Silent SNP A G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:184233499A>G uc010irx.2 + 22 3572 c.3390A>G c.(3388-3390)GAA>GAG p.E1130E WWC2_uc003ivk.3_Silent_p.E925E|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Silent_p.E812E|WWC2_uc003ivn.3_Silent_p.E645E|WWC2_uc010irz.2_Silent_p.E471E|WWC2_uc003ivo.3_Silent_p.E258E NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 1130 Potential. ovary(2)|lung(1) 3 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) TCCAGGCTGAACAGTCCAAAG 0.458 61 74 --- --- --- --- PASS TRIML1 339976 broad.mit.edu 37 4 189068016 189068016 + Silent SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr4:189068016C>G uc003izm.1 + 6 1012 c.897C>G c.(895-897)CTC>CTG p.L299L TRIML1_uc003izn.1_Silent_p.L23L NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 299 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) ATGCCTATCTCGTGTTGTCGG 0.512 52 83 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13766275 13766275 + Missense_Mutation SNP G A A rs139821753 TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:13766275G>A uc003jfd.2 - 59 9953 c.9911C>T c.(9910-9912)TCG>TTG p.S3304L DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3304 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GGCGATGTCCGAAGGCCTGAT 0.527 Kartagener_syndrome 11 28 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13919404 13919404 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:13919404C>T uc003jfd.2 - 7 898 c.856G>A c.(856-858)GAG>AAG p.E286K DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 286 Potential.|Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TGCTCCAGCTCCGCTCGTGGC 0.537 Kartagener_syndrome 36 119 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19483619 19483619 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:19483619C>A uc003jgc.2 - 11 2050 c.1673G>T c.(1672-1674)CGA>CTA p.R558L CDH18_uc003jgd.2_Missense_Mutation_p.R558L|CDH18_uc011cnm.1_Intron NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 558 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) CTGAACAGTTCGACTAAATCT 0.458 6 20 --- --- --- --- PASS C5orf34 375444 broad.mit.edu 37 5 43487154 43487154 + Missense_Mutation SNP A G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:43487154A>G uc003jnz.1 - 14 2097 c.1780T>C c.(1780-1782)TCT>CCT p.S594P NM_198566 NP_940968 Q96MH7 CE034_HUMAN hypothetical protein LOC375444 594 breast(1) 1 Lung NSC(6;2.07e-05) TGATCAAAAGACTGTTGTTCA 0.333 9 12 --- --- --- --- PASS C5orf34 375444 broad.mit.edu 37 5 43506193 43506193 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:43506193C>T uc003jnz.1 - 5 906 c.589G>A c.(589-591)GAG>AAG p.E197K C5orf34_uc011cpx.1_Missense_Mutation_p.E83K NM_198566 NP_940968 Q96MH7 CE034_HUMAN hypothetical protein LOC375444 197 breast(1) 1 Lung NSC(6;2.07e-05) CAATGAAACTCATTTTCTTTA 0.363 23 41 --- --- --- --- PASS PARP8 79668 broad.mit.edu 37 5 50123778 50123778 + Nonsense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:50123778C>T uc003jon.3 + 21 2160 c.1978C>T c.(1978-1980)CAA>TAA p.Q660* PARP8_uc011cpz.1_Nonsense_Mutation_p.Q552*|PARP8_uc003joo.2_Nonsense_Mutation_p.Q660*|PARP8_uc003jop.2_Nonsense_Mutation_p.Q618* NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 660 PARP catalytic. intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) TAAATGGCAGCAATTGAAGTT 0.338 6 12 --- --- --- --- PASS ITGA2 3673 broad.mit.edu 37 5 52358679 52358679 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:52358679G>T uc003joy.2 + 13 1665 c.1522G>T c.(1522-1524)GTG>TTG p.V508L ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.V432L|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 508 FG-GAP 5.|Extracellular (Potential). axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CATTACAGACGTGCTCTTGGT 0.368 13 22 --- --- --- --- PASS UTP15 84135 broad.mit.edu 37 5 72872776 72872776 + Splice_Site SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:72872776G>T uc003kcw.1 + 8 1033 c.810_splice c.e8-1 p.R270_splice UTP15_uc011cso.1_Splice_Site_p.R251_splice|UTP15_uc011csp.1_Splice_Site_p.R80_splice|UTP15_uc010ize.1_Splice_Site_p.R270_splice NM_032175 NP_115551 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, rRNA processing cytoplasm|nucleolus 0 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) CTTTTTATTAGGAAGGTGAAA 0.323 6 95 --- --- --- --- PASS YTHDC2 64848 broad.mit.edu 37 5 112870077 112870077 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:112870077G>A uc003kqn.2 + 6 1101 c.918G>A c.(916-918)ACG>ACA p.T306T YTHDC2_uc010jce.1_Silent_p.T306T|YTHDC2_uc010jcf.1_Silent_p.T6T NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 306 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) GAGATAGTACGTTGTCGACTG 0.348 18 34 --- --- --- --- PASS SEC24A 10802 broad.mit.edu 37 5 134002525 134002525 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:134002525C>A uc003kzs.2 + 3 866 c.578C>A c.(577-579)CCT>CAT p.P193H SEC24A_uc011cxu.1_5'UTR NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 193 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTTCTGTACCTCCCTTAGTG 0.522 6 100 --- --- --- --- PASS FAM13B 51306 broad.mit.edu 37 5 137347574 137347574 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:137347574G>T uc003lbz.2 - 5 965 c.431C>A c.(430-432)CCT>CAT p.P144H FAM13B_uc003lcb.2_Missense_Mutation_p.P26H|FAM13B_uc003lca.2_Missense_Mutation_p.P144H NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN hypothetical protein LOC51306 isoform 1 144 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 ATAATTAACAGGTGGAAGCTG 0.313 7 69 --- --- --- --- PASS KIF20A 10112 broad.mit.edu 37 5 137520077 137520077 + Nonsense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:137520077C>G uc003lcj.2 + 12 1998 c.1502C>G c.(1501-1503)TCA>TGA p.S501* KIF20A_uc011cyo.1_Nonsense_Mutation_p.S483* NM_005733 NP_005724 O95235 KI20A_HUMAN kinesin family member 20A 501 cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCCAAGTTCTCAGCCATTGCT 0.488 39 119 --- --- --- --- PASS HARS 3035 broad.mit.edu 37 5 140056260 140056260 + Silent SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:140056260G>T uc003lgv.2 - 10 1255 c.1173C>A c.(1171-1173)TCC>TCA p.S391S HARS_uc003lgu.2_Silent_p.S322S|HARS_uc011czm.1_Silent_p.S351S|HARS_uc003lgw.2_Silent_p.S371S|HARS_uc011czn.1_Silent_p.S331S|HARS_uc010jfu.2_Silent_p.S391S|HARS_uc011czo.1_Silent_p.S317S|HARS_uc011czp.1_Silent_p.S277S|HARS_uc011czq.1_Silent_p.S281S NM_002109 NP_002100 P12081 SYHC_HUMAN histidyl-tRNA synthetase 391 histidyl-tRNA aminoacylation cytosol ATP binding|histidine-tRNA ligase activity ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) L-Histidine(DB00117) GTTCCACGATGGAGAAAATCC 0.557 8 184 --- --- --- --- PASS PCDHB2 56133 broad.mit.edu 37 5 140476341 140476341 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:140476341C>A uc003lil.2 + 1 2105 c.1967C>A c.(1966-1968)GCC>GAC p.A656D PCDHB2_uc003lim.1_Missense_Mutation_p.A317D NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 656 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCGCTCGGCCACCGCCACG 0.711 13 15 --- --- --- --- PASS PCDHB13 56123 broad.mit.edu 37 5 140596022 140596022 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:140596022C>A uc003lja.1 + 1 2514 c.2327C>A c.(2326-2328)CCC>CAC p.P776H NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 776 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACTTCCCTCCCCAGTGCCCT 0.468 39 65 --- --- --- --- PASS PCDHGA5 56110 broad.mit.edu 37 5 140746176 140746176 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:140746176C>G uc003lju.1 + 1 2279 c.2279C>G c.(2278-2280)ACC>AGC p.T760S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.T760S NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 760 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCTCCCTCACCGCGGACTCG 0.597 56 130 --- --- --- --- PASS NDST1 3340 broad.mit.edu 37 5 149925029 149925029 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:149925029G>A uc003lsk.3 + 11 2628 c.2126G>A c.(2125-2127)CGG>CAG p.R709Q NDST1_uc011dcj.1_Missense_Mutation_p.R709Q NM_001543 NP_001534 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan 709 Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(1)|skin(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCGCGGACCGGGCCTATTCC 0.557 33 92 --- --- --- --- PASS ANXA6 309 broad.mit.edu 37 5 150496742 150496742 + Splice_Site SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:150496742C>A uc003ltl.1 - 20 1671 c.1519_splice c.e20-1 p.G507_splice ANXA6_uc011dcp.1_Splice_Site_p.G475_splice|ANXA6_uc003ltm.1_Splice_Site_p.G507_splice|ANXA6_uc003ltn.1_Splice_Site_p.G300_splice|ANXA6_uc003lto.1_Splice_Site_p.G94_splice NM_001155 NP_001146 P08133 ANXA6_HUMAN annexin VI isoform 1 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding 0 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CACGATGCCCCTGCAGCAGGA 0.537 16 39 --- --- --- --- PASS SLIT3 6586 broad.mit.edu 37 5 168199840 168199840 + Nonsense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:168199840G>A uc003mab.2 - 14 1825 c.1405C>T c.(1405-1407)CGA>TGA p.R469* SLIT3_uc010jjg.2_Nonsense_Mutation_p.R469*|SLIT3_uc010jji.2_Nonsense_Mutation_p.R469*|SLIT3_uc003mac.1_Nonsense_Mutation_p.R266* NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 469 LRRCT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTGGCGAGTCGGCGCGGGCTG 0.602 9 26 --- --- --- --- PASS CNOT6 57472 broad.mit.edu 37 5 179991578 179991578 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr5:179991578G>T uc003mlx.2 + 5 824 c.475G>T c.(475-477)GGT>TGT p.G159C CNOT6_uc010jld.2_Missense_Mutation_p.G159C|CNOT6_uc010jle.2_Missense_Mutation_p.V159F NM_015455 NP_056270 Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 159 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding 0 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) TAATTTGTCAGGTACTGCAAA 0.338 6 85 --- --- --- --- PASS HIVEP1 3096 broad.mit.edu 37 6 12121781 12121781 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:12121781C>T uc003nac.2 + 4 1932 c.1753C>T c.(1753-1755)CCT>TCT p.P585S HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 585 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) GGATCCCAAGCCTGAACTTTC 0.507 42 25 --- --- --- --- PASS DCDC2 51473 broad.mit.edu 37 6 24178827 24178827 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:24178827C>A uc003ndx.2 - 9 1359 c.1057G>T c.(1057-1059)GGA>TGA p.G353* DCDC2_uc003ndy.2_Nonsense_Mutation_p.G353*|DCDC2_uc003ndw.2_Nonsense_Mutation_p.G104* NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 353 cellular defense response|intracellular signal transduction|neuron migration ovary(1) 1 Ovarian(999;0.101) GCCTTCTCTCCATCTTCTTCC 0.433 33 23 --- --- --- --- PASS ZNF391 346157 broad.mit.edu 37 6 27368847 27368847 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:27368847G>A uc003njf.1 + 3 1216 c.698G>A c.(697-699)CGT>CAT p.R233H NM_001076781 NP_001070249 Q9UJN7 ZN391_HUMAN zinc finger protein 391 233 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(2)|skin(1) 3 TTCGGTGACCGTTCAACCATA 0.423 17 8 --- --- --- --- PASS HIST1H3H 8357 broad.mit.edu 37 6 27778110 27778110 + Missense_Mutation SNP A T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:27778110A>T uc003njm.2 + 1 269 c.259A>T c.(259-261)AGC>TGC p.S87C HIST1H2BL_uc003njl.2_5'Flank NM_003536 NP_003527 P68431 H31_HUMAN histone cluster 1, H3h 87 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 GCGCTTCCAGAGCTCCGCGGT 0.607 38 34 --- --- --- --- PASS HLA-DRB5 3127 broad.mit.edu 37 6 32487330 32487330 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:32487330C>T uc003obj.2 - 3 474 c.469G>A c.(469-471)GAA>AAA p.E157K HLA-DRB1_uc011dqa.1_Intron|HLA-DRB5_uc003obk.3_Missense_Mutation_p.E157K NM_002125 NP_002116 Q30154 DRB5_HUMAN major histocompatibility complex, class II, DR 157 Ig-like C1-type.|Beta-2.|Extracellular (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex 0 CACCTGACTTCAATGCTGCCT 0.552 8 22 --- --- --- --- PASS HLA-DRB1 3123 broad.mit.edu 37 6 32549517 32549517 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:32549517C>T uc003obp.3 - 3 512 c.469G>A c.(469-471)GAA>AAA p.E157K HLA-DRB1_uc011dqa.1_5'UTR|HLA-DRB5_uc003obk.3_Intron|HLA-DRB6_uc003obo.1_Intron|HLA-DRB1_uc011dqb.1_5'UTR|HLA-DRB1_uc011dqc.1_5'UTR NM_002124 NP_002115 P01911 2B1F_HUMAN major histocompatibility complex, class II, DR 157 Ig-like C1-type.|Beta-2.|Extracellular (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex skin(1) 1 CACCTGACTTCAATGCTGCCT 0.547 Rheumatoid_Arthritis|Sj_gren_syndrome Multiple Myeloma(14;0.17) 14 67 --- --- --- --- PASS COL11A2 1302 broad.mit.edu 37 6 33139299 33139299 + Missense_Mutation SNP A T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:33139299A>T uc003ocx.1 - 43 3431 c.3203T>A c.(3202-3204)GTG>GAG p.V1068E COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.V982E|COL11A2_uc003ocz.1_Missense_Mutation_p.V961E NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 1068 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 AGGAAGCCCCACAGGACCCTG 0.632 8 22 --- --- --- --- PASS ZBTB9 221504 broad.mit.edu 37 6 33422975 33422975 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:33422975C>G uc003oeq.2 + 2 366 c.98C>G c.(97-99)TCT>TGT p.S33C NM_152735 NP_689948 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 33 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CATAGCTCGTCTCTGCTGGAA 0.582 37 56 --- --- --- --- PASS PEX6 5190 broad.mit.edu 37 6 42932076 42932076 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:42932076G>T uc003otf.2 - 17 3033 c.2940C>A c.(2938-2940)TGC>TGA p.C980* uc003ote.1_5'Flank|PEX6_uc010jya.2_RNA NM_000287 NP_000278 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 980 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1) 1 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) GGGGCTCCTAGCAGGCAGCAA 0.637 6 31 --- --- --- --- PASS AARS2 57505 broad.mit.edu 37 6 44279966 44279966 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:44279966C>T uc010jza.1 - 2 281 c.278G>A c.(277-279)CGA>CAA p.R93Q SPATS1_uc003oxg.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 93 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CATCTCGCTTCGTGGATCCAC 0.542 24 46 --- --- --- --- PASS CYP39A1 51302 broad.mit.edu 37 6 46620210 46620210 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:46620210G>T uc003oyf.1 - 1 314 c.110C>A c.(109-111)CCT>CAT p.P37H CYP39A1_uc011dwa.1_Missense_Mutation_p.P37H|CYP39A1_uc010jzd.1_5'UTR|SLC25A27_uc011dwb.1_5'Flank|SLC25A27_uc003oyg.2_5'Flank|SLC25A27_uc003oyh.2_5'Flank|SLC25A27_uc011dwc.1_5'Flank NM_016593 NP_057677 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, 37 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(1) 1 TCCAATCCAAGGAATCCAGCC 0.483 10 381 --- --- --- --- PASS RHAG 6005 broad.mit.edu 37 6 49587042 49587042 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:49587042C>G uc003ozk.3 - 2 253 c.191G>C c.(190-192)GGG>GCG p.G64A RHAG_uc010jzl.2_Missense_Mutation_p.G64A|RHAG_uc010jzm.2_Missense_Mutation_p.G64A NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein 64 Helical; (Potential). carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|skin(1) 2 Lung NSC(77;0.0255) GAAGCCAAACCCAACAAATAT 0.418 14 12 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51890331 51890331 + Nonsense_Mutation SNP G T T rs149167975 TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:51890331G>T uc003pah.1 - 32 4553 c.4277C>A c.(4276-4278)TCG>TAG p.S1426* PKHD1_uc003pai.2_Nonsense_Mutation_p.S1426* NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1426 IPT/TIG 9.|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) AAAAGGACCCGAGAGGTCAAC 0.542 6 187 --- --- --- --- PASS HCRTR2 3062 broad.mit.edu 37 6 55128539 55128539 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:55128539C>G uc003pcl.2 + 4 996 c.681C>G c.(679-681)TTC>TTG p.F227L HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.F162L NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 227 Helical; Name=5; (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ACATCTGTTTCTTTCTGGTGA 0.363 5 5 --- --- --- --- PASS PHF3 23469 broad.mit.edu 37 6 64408187 64408187 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:64408187G>T uc003pep.1 + 6 2781 c.2755G>T c.(2755-2757)GCT>TCT p.A919S PHF3_uc010kag.1_Missense_Mutation_p.A831S|PHF3_uc010kah.1_Missense_Mutation_p.A733S|PHF3_uc003pen.2_Missense_Mutation_p.A831S|PHF3_uc011dxs.1_Missense_Mutation_p.A188S NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 919 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TGCTGCTTCTGCTTCCAAGCC 0.348 12 71 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75848583 75848583 + Silent SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:75848583G>C uc003phs.2 - 28 5218 c.5052C>G c.(5050-5052)CTC>CTG p.L1684L COL12A1_uc003pht.2_Silent_p.L520L NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1684 Fibronectin type-III 12. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TTATTCTGTAGAGAGACACAT 0.423 6 24 --- --- --- --- PASS HTR1B 3351 broad.mit.edu 37 6 78172386 78172386 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:78172386G>T uc003pil.1 - 1 735 c.735C>A c.(733-735)AAC>AAA p.N245K NM_000863 NP_000854 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B 245 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity 0 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) TGCCGGTCCTGTTGGGCGTCT 0.622 21 28 --- --- --- --- PASS SLC35A1 10559 broad.mit.edu 37 6 88221170 88221170 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:88221170G>T uc011dzj.1 + 8 1019 c.940G>T c.(940-942)GGA>TGA p.G314* SLC35A1_uc003plx.2_RNA|SLC35A1_uc010kbw.2_Nonsense_Mutation_p.G162*|SLC35A1_uc003plz.2_RNA|SLC35A1_uc011dzi.1_Nonsense_Mutation_p.G180*|SLC35A1_uc003ply.2_RNA|SLC35A1_uc010kbx.2_Nonsense_Mutation_p.G255*|SLC35A1_uc010kby.2_RNA NM_006416 NP_006407 P78382 S35A1_HUMAN solute carrier family 35 (CMP-sialic acid 314 Helical; (Potential). carbohydrate metabolic process|protein modification process Golgi membrane|integral to plasma membrane CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity 0 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0429) ATATCTCTATGGATTACCCAG 0.383 5 58 --- --- --- --- PASS MCHR2 84539 broad.mit.edu 37 6 100403965 100403965 + Nonsense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:100403965C>T uc003pqh.1 - 2 374 c.59G>A c.(58-60)TGG>TAG p.W20* MCHR2_uc003pqi.1_Nonsense_Mutation_p.W20* NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 20 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) CTCTTTATTCCAGGATTTGTT 0.423 20 41 --- --- --- --- PASS POPDC3 64208 broad.mit.edu 37 6 105609460 105609460 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:105609460G>T uc003prb.2 - 2 727 c.325C>A c.(325-327)CAA>AAA p.Q109K uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron NM_022361 NP_071756 Q9HBV1 POPD3_HUMAN popeye protein 3 109 integral to membrane skin(3)|ovary(2) 5 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) TACAACACTTGGAATTCTCGG 0.423 9 249 --- --- --- --- PASS FOXO3 2309 broad.mit.edu 37 6 108985287 108985287 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:108985287C>A uc003psk.2 + 3 1567 c.1251C>A c.(1249-1251)ACC>ACA p.T417T FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Silent_p.T417T|FOXO3_uc011ean.1_Silent_p.T197T|FOXO3_uc010kdj.1_Silent_p.T197T NM_201559 NP_963853 O43524 FOXO3_HUMAN forkhead box O3A 417 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(4)|lung(2) 6 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) TCCCGTATACCACCAAGGGCT 0.597 6 84 --- --- --- --- PASS NCOA7 135112 broad.mit.edu 37 6 126206390 126206390 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:126206390G>T uc010kes.2 + 10 1234 c.785G>T c.(784-786)GGG>GTG p.G262V NCOA7_uc003qae.3_Missense_Mutation_p.G262V|NCOA7_uc003qah.2_Missense_Mutation_p.G262V|NCOA7_uc003qai.2_Missense_Mutation_p.G262V|NCOA7_uc010ket.2_Missense_Mutation_p.G158V|NCOA7_uc003qag.2_Missense_Mutation_p.G262V NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 262 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) ATTGAAAATGGGTGTGAGGAG 0.453 6 87 --- --- --- --- PASS MOXD1 26002 broad.mit.edu 37 6 132643820 132643820 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:132643820G>T uc003qdf.2 - 8 1402 c.1303C>A c.(1303-1305)CCA>ACA p.P435T MOXD1_uc003qde.2_Missense_Mutation_p.P367T NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 isoform 2 435 Lumenal (Potential). catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity ovary(1) 1 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) ATGCATACTGGTAAGATTGTT 0.333 8 16 --- --- --- --- PASS HIVEP2 3097 broad.mit.edu 37 6 143081135 143081135 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:143081135C>G uc003qjd.2 - 9 7033 c.6290G>C c.(6289-6291)AGA>ACA p.R2097T NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 2097 10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CATCTCTCTTCTCAATGCAGC 0.458 10 16 --- --- --- --- PASS SASH1 23328 broad.mit.edu 37 6 148869683 148869683 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:148869683G>C uc003qme.1 + 20 4208 c.3733G>C c.(3733-3735)GAG>CAG p.E1245Q SASH1_uc003qmf.1_Missense_Mutation_p.E655Q NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1245 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GCCAGGCCCTGAGGCCATGTA 0.552 15 43 --- --- --- --- PASS AKAP12 9590 broad.mit.edu 37 6 151671465 151671465 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:151671465G>T uc011eep.1 + 4 2179 c.1939G>T c.(1939-1941)GAG>TAG p.E647* AKAP12_uc003qoe.2_Nonsense_Mutation_p.E647*|AKAP12_uc003qof.2_Nonsense_Mutation_p.E549*|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Nonsense_Mutation_p.E542* NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 647 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GTCTTCCACCGAGAGCACAGC 0.502 5 89 --- --- --- --- PASS CNKSR3 154043 broad.mit.edu 37 6 154744078 154744078 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:154744078C>T uc003qpy.2 - 8 1274 c.769G>A c.(769-771)GAA>AAA p.E257K NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 257 PDZ. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane ovary(2)|breast(1)|skin(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) TGAATGACTTCGTCACCAGCA 0.328 7 31 --- --- --- --- PASS TFB1M 51106 broad.mit.edu 37 6 155579120 155579120 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:155579120G>C uc003qqj.3 - 7 955 c.891C>G c.(889-891)ATC>ATG p.I297M TFB1M_uc003qqk.2_Intron|uc003qqi.1_5'Flank NM_016020 NP_057104 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity skin(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) TAAAGTGTGAGATGGAGAGCT 0.463 27 63 --- --- --- --- PASS TMEM181 57583 broad.mit.edu 37 6 158957791 158957791 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:158957791G>C uc003qrm.3 + 1 324 c.313G>C c.(313-315)GAG>CAG p.E105Q TMEM181_uc010kjr.1_5'UTR NM_020823 NP_065874 Q9P2C4 TM181_HUMAN G protein-coupled receptor 178 105 pathogenesis integral to membrane toxin binding ovary(2)|central_nervous_system(1) 3 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) CCCTGCCTTTGAGCCCCCGCT 0.697 3 3 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 160953575 160953575 + Silent SNP A G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:160953575A>G uc003qtl.2 - 39 6069 c.5949T>C c.(5947-5949)ACT>ACC p.T1983T NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4491 Peptidase S1. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GGCAACTGTCAGTGCCTCTGG 0.463 11 27 --- --- --- --- PASS MAP3K4 4216 broad.mit.edu 37 6 161514085 161514085 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:161514085C>A uc003qtn.2 + 14 3487 c.3345C>A c.(3343-3345)TTC>TTA p.F1115L MAP3K4_uc010kkc.1_Missense_Mutation_p.F1115L|MAP3K4_uc003qto.2_Missense_Mutation_p.F1115L|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.F568L|MAP3K4_uc003qtp.2_Missense_Mutation_p.F105L NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1115 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AAGATGACTTCTTGGTATGGA 0.323 4 20 --- --- --- --- PASS AGPAT4 56895 broad.mit.edu 37 6 161653130 161653130 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:161653130C>A uc003qtr.1 - 2 343 c.116G>T c.(115-117)TGG>TTG p.W39L AGPAT4_uc003qts.1_5'UTR|AGPAT4_uc011egb.1_Missense_Mutation_p.W39L|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_Missense_Mutation_p.W39L|AGPAT4_uc011egd.1_Intron|AGPAT4_uc011ege.1_Missense_Mutation_p.W39L NM_020133 NP_064518 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 39 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding 0 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) GTTAATGGGCCAGAGGAGGAG 0.463 5 52 --- --- --- --- PASS MLLT4 4301 broad.mit.edu 37 6 168352586 168352586 + Silent SNP C T T rs141139097 TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:168352586C>T uc003qwd.2 + 29 4670 c.4528C>T c.(4528-4530)CTG>TTG p.L1510L MLLT4_uc003qwb.1_Silent_p.L1495L|MLLT4_uc003qwc.1_Silent_p.L1511L|MLLT4_uc003qwg.1_Silent_p.L820L NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1511 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GGGGGACAGTCTGTCCCCCGA 0.602 T MLL AL 14 26 --- --- --- --- PASS SNX8 29886 broad.mit.edu 37 7 2297430 2297430 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:2297430C>A uc003slw.2 - 8 967 c.924G>T c.(922-924)CAG>CAT p.Q308H NM_013321 NP_037453 Q9Y5X2 SNX8_HUMAN sorting nexin 8 308 cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding large_intestine(1)|ovary(1) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) CGTTCTCTTCCTGCTTACCCT 0.612 9 346 --- --- --- --- PASS MMD2 221938 broad.mit.edu 37 7 4959907 4959907 + Missense_Mutation SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:4959907T>C uc003sno.3 - 3 381 c.185A>G c.(184-186)GAT>GGT p.D62G MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.D62G|MMD2_uc010ksq.2_Missense_Mutation_p.D62G NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN monocyte to macrophage 62 Extracellular (Potential). integral to membrane receptor activity central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) CTCCCAGTCATCGTCCGACAG 0.617 15 5 --- --- --- --- PASS ZDHHC4 55146 broad.mit.edu 37 7 6628525 6628525 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:6628525G>T uc003sqi.2 + 9 1377 c.1019G>T c.(1018-1020)AGG>ATG p.R340M ZDHHC4_uc003sql.2_Missense_Mutation_p.R340M|ZDHHC4_uc003sqh.2_Missense_Mutation_p.R340M|ZDHHC4_uc003sqj.2_Missense_Mutation_p.R340M|ZDHHC4_uc003sqk.2_Missense_Mutation_p.R340M|ZDHHC4_uc003sqm.2_Missense_Mutation_p.R340M|uc011jwy.1_5'Flank|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank|C7orf26_uc003sqq.1_5'Flank NM_001134388 NP_001127860 Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 340 integral to membrane acyltransferase activity|zinc ion binding breast(1)|pancreas(1) 2 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) TGTCATGAGAGGAAGAAACAA 0.473 10 250 --- --- --- --- PASS AHR 196 broad.mit.edu 37 7 17378616 17378616 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:17378616G>T uc011jxz.1 + 10 1780 c.1167G>T c.(1165-1167)GAG>GAT p.E389D AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 389 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) TTAGAGATGAGGAAGGAACAG 0.303 6 113 --- --- --- --- PASS HOXA11 3207 broad.mit.edu 37 7 27224653 27224653 + Silent SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:27224653G>T uc003syx.2 - 1 183 c.111C>A c.(109-111)ACC>ACA p.T37T HOXA11_uc003syy.2_Intron|HOXA11AS_uc003syz.1_5'Flank NM_005523 NP_005514 P31270 HXA11_HUMAN homeobox A11 37 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|breast(1) 2 GCGAAGACGGGGTCTGGGGCA 0.562 T NUP98 CML OREG0003747 type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 49 44 --- --- --- --- PASS MYO1G 64005 broad.mit.edu 37 7 45016187 45016187 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:45016187G>T uc003tmh.2 - 3 518 c.374C>A c.(373-375)CCA>CAA p.P125Q MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Missense_Mutation_p.P10Q|MYO1G_uc003tmi.1_Missense_Mutation_p.P37Q|MYO1G_uc003tmj.2_5'UTR NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 125 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 CCTCTGGCTTGGATTGGTGAC 0.597 5 61 --- --- --- --- PASS SEC61G 23480 broad.mit.edu 37 7 54823496 54823496 + Missense_Mutation SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:54823496T>C uc003tqf.2 - 3 264 c.173A>G c.(172-174)CAT>CGT p.H58R SEC61G_uc003tqg.2_Missense_Mutation_p.H58R NM_001012456 NP_001012474 P60059 SC61G_HUMAN Sec61 gamma subunit 58 Helical; (Potential). protein targeting to ER endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity lung(1) 1 Esophageal squamous(2;7.55e-08)|Breast(14;0.0654) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164) AATAGGAATATGGATCAATTT 0.323 12 113 --- --- --- --- PASS LANCL2 55915 broad.mit.edu 37 7 55493093 55493093 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:55493093G>T uc003tqp.2 + 7 1733 c.1155G>T c.(1153-1155)CAG>CAT p.Q385H NM_018697 NP_061167 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 385 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding ovary(1)|skin(1) 2 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) GTCTCACGCAGGATAAGAAGT 0.537 10 327 --- --- --- --- PASS SEPT14 346288 broad.mit.edu 37 7 55863741 55863741 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:55863741C>G uc003tqz.2 - 10 1281 c.1164G>C c.(1162-1164)GAG>GAC p.E388D NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 388 Potential. cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GCTTCCTTATCTCCTCCTGTT 0.438 62 24 --- --- --- --- PASS DBF4 10926 broad.mit.edu 37 7 87526637 87526637 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:87526637G>T uc003ujf.1 + 8 1167 c.663G>T c.(661-663)AAG>AAT p.K221N DBF4_uc003ujh.1_Translation_Start_Site|DBF4_uc003ujg.1_Translation_Start_Site|DBF4_uc011khf.1_Intron NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN activator of S phase kinase 221 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding lung(2) 2 Esophageal squamous(14;0.00202) Breast(660;0.0334) CTTTTGTAAAGGTGGAAGATA 0.313 9 245 --- --- --- --- PASS AKAP9 10142 broad.mit.edu 37 7 91726596 91726596 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:91726596G>T uc003ulg.2 + 41 10548 c.10323G>T c.(10321-10323)CAG>CAT p.Q3441H AKAP9_uc003ulf.2_Missense_Mutation_p.Q3433H|AKAP9_uc003uli.2_Missense_Mutation_p.Q3064H|AKAP9_uc003ulj.2_Missense_Mutation_p.Q1211H|AKAP9_uc003ull.2_Missense_Mutation_p.Q337H NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3445 Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAATCATGCAGGAATTCCAGA 0.393 T BRAF papillary thyroid 7 104 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98508832 98508832 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:98508832G>T uc003upp.2 + 17 2154 c.1945G>T c.(1945-1947)GAA>TAA p.E649* TRRAP_uc011kis.1_Nonsense_Mutation_p.E649*|TRRAP_uc003upr.2_Nonsense_Mutation_p.E341* NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 649 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AACGTTCAAAGAAATCTTCCA 0.403 10 106 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98588092 98588092 + Missense_Mutation SNP G C C rs77396759 TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:98588092G>C uc003upp.2 + 63 9827 c.9618G>C c.(9616-9618)TTG>TTC p.L3206F TRRAP_uc011kis.1_Missense_Mutation_p.L3177F|TRRAP_uc003upr.2_Missense_Mutation_p.L2894F NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3206 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGTGGCTTTTGAGTTTTGATG 0.473 14 222 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98601931 98601931 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:98601931G>T uc003upp.2 + 67 10595 c.10386G>T c.(10384-10386)GAG>GAT p.E3462D TRRAP_uc011kis.1_Missense_Mutation_p.E3433D|TRRAP_uc003upr.2_Missense_Mutation_p.E3168D NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3462 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCCTCATAGAGGAAAAGTGCC 0.428 15 588 --- --- --- --- PASS EPHB4 2050 broad.mit.edu 37 7 100404041 100404041 + Splice_Site SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:100404041C>T uc003uwn.1 - 14 2975 c.2484_splice c.e14+1 p.D828_splice EPHB4_uc003uwm.1_Splice_Site_p.D735_splice|EPHB4_uc010lhj.1_Splice_Site_p.D828_splice NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) GGGACACTTACGTCCTGATTG 0.542 23 25 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100679392 100679392 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:100679392C>A uc003uxp.1 + 3 4748 c.4695C>A c.(4693-4695)ACC>ACA p.T1565T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1565 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|24. 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) GCATGCAAACCTCAACTTATA 0.488 8 189 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100683654 100683654 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:100683654G>A uc003uxp.1 + 3 9010 c.8957G>A c.(8956-8958)AGA>AAA p.R2986K MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2986 Extracellular (Potential).|Ser-rich.|48.|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) GGCGAAAGAAGAACTCCATTA 0.517 101 107 --- --- --- --- PASS IQUB 154865 broad.mit.edu 37 7 123104992 123104992 + Silent SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:123104992T>C uc003vkn.2 - 10 2230 c.1653A>G c.(1651-1653)GGA>GGG p.G551G IQUB_uc003vko.2_Silent_p.G551G|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Silent_p.G551G NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 551 ovary(3)|large_intestine(1) 4 GATGTTTGACTCCTCTCATCA 0.323 4 13 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131853105 131853105 + Missense_Mutation SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:131853105T>C uc003vra.3 - 22 4473 c.4244A>G c.(4243-4245)AAG>AGG p.K1415R NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1415 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CTCCAGGTTCTTGTCAATGAG 0.607 6 15 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131872233 131872233 + Missense_Mutation SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:131872233T>C uc003vra.3 - 15 3219 c.2990A>G c.(2989-2991)CAC>CGC p.H997R NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 997 IPT/TIG 2.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 GAGTTACCTGTGGAAGAGACA 0.532 75 106 --- --- --- --- PASS SLC13A4 26266 broad.mit.edu 37 7 135387595 135387595 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:135387595C>A uc003vta.2 - 6 1317 c.628G>T c.(628-630)GAG>TAG p.E210* SLC13A4_uc003vtb.2_Nonsense_Mutation_p.E211* NM_012450 NP_036582 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate 210 integral to plasma membrane sodium:sulfate symporter activity 0 GGCCATACCTCGTTGTGCATC 0.522 5 95 --- --- --- --- PASS DENND2A 27147 broad.mit.edu 37 7 140301337 140301337 + Silent SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:140301337G>T uc010lnj.2 - 1 1006 c.861C>A c.(859-861)ATC>ATA p.I287I DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.I287I|DENND2A_uc003vvw.2_Silent_p.I287I|DENND2A_uc003vvx.2_Silent_p.I287I NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 287 ovary(3)|breast(1) 4 Melanoma(164;0.00956) TCCTGAAGCCGATGCCAGGCT 0.378 4 50 --- --- --- --- PASS EZH2 2146 broad.mit.edu 37 7 148512011 148512011 + Nonsense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:148512011G>C uc003wfd.1 - 14 1818 c.1652C>G c.(1651-1653)TCA>TGA p.S551* EZH2_uc011kug.1_Intron|EZH2_uc003wfb.1_Nonsense_Mutation_p.S556*|EZH2_uc003wfc.1_Nonsense_Mutation_p.S512*|EZH2_uc011kuh.1_Nonsense_Mutation_p.S542* NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 551 Cys-rich. 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 haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) CTTACACTCTGAACTACATTG 0.373 Mis DLBCL 8 11 --- --- --- --- PASS ZNF425 155054 broad.mit.edu 37 7 148801651 148801651 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:148801651C>T uc003wfj.2 - 4 1385 c.1312G>A c.(1312-1314)GGG>AGG p.G438R NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 438 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GGCCGCTTCCCAATGTGCTGC 0.607 28 26 --- --- --- --- PASS SMARCD3 6604 broad.mit.edu 37 7 150939642 150939642 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr7:150939642C>A uc003wjs.2 - 5 605 c.504G>T c.(502-504)GCG>GCT p.A168A SMARCD3_uc003wjt.2_Silent_p.A155A|SMARCD3_uc003wju.2_Silent_p.A155A|SMARCD3_uc011kvh.1_Silent_p.A168A|SMARCD3_uc010lqa.1_Silent_p.A168A NM_001003801 NP_001003801 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin 168 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATCAGGCTTCGCAGGGTTAA 0.577 5 94 --- --- --- --- PASS SGCZ 137868 broad.mit.edu 37 8 14412436 14412436 + Splice_Site SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:14412436C>T uc003wwq.2 - 2 700 c.40_splice c.e2-1 p.M14_splice SGCZ_uc010lss.2_Splice_Site_p.M1_splice NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CTCGTGTCATCTGaaaaagaa 0.289 6 12 --- --- --- --- PASS XPO7 23039 broad.mit.edu 37 8 21848343 21848343 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:21848343G>T uc003xaa.3 + 18 2056 c.1954G>T c.(1954-1956)GGT>TGT p.G652C XPO7_uc010lti.2_Missense_Mutation_p.G661C|XPO7_uc010ltk.2_Missense_Mutation_p.G653C NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b 652 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TTCATTTTTGGGTATTAACAA 0.408 6 99 --- --- --- --- PASS CHMP7 91782 broad.mit.edu 37 8 23114092 23114092 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:23114092C>A uc003xdc.2 + 5 1425 c.777C>A c.(775-777)TCC>TCA p.S259S CHMP7_uc011kzs.1_RNA|CHMP7_uc003xdd.2_Silent_p.S149S|CHMP7_uc003xde.2_Silent_p.S117S NM_152272 NP_689485 Q8WUX9 CHMP7_HUMAN CHMP family, member 7 259 Potential. cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity 0 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) AGTCCTTATCCCAGGAAGCAG 0.512 8 144 --- --- --- --- PASS NRG1 3084 broad.mit.edu 37 8 32617716 32617716 + Splice_Site SNP A T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:32617716A>T uc003xiv.2 + 11 1579 c.1062_splice c.e11-2 p.S354_splice NRG1_uc011lbf.1_Splice_Site_p.S351_splice|NRG1_uc010lvo.2_Splice_Site_p.S351_splice|NRG1_uc003xiu.2_Splice_Site_p.S359_splice|NRG1_uc003xiw.2_Splice_Site_p.S351_splice|NRG1_uc003xit.2_Splice_Site_p.S354_splice|NRG1_uc010lvr.2_Splice_Site_p.S96_splice|NRG1_uc010lvs.2_Splice_Site_p.S96_splice|NRG1_uc010lvp.2_Splice_Site_p.S308_splice|NRG1_uc010lvq.2_Splice_Site_p.S291_splice|NRG1_uc011lbg.1_Splice_Site_p.S200_splice|NRG1_uc011lbh.1_Splice_Site_p.S197_splice|NRG1_uc003xja.2_Splice_Site_p.S165_splice NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TTTCCTCCGCAGCTGGAGCAA 0.433 14 24 --- --- --- --- PASS FUT10 84750 broad.mit.edu 37 8 33246586 33246586 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:33246586C>A uc003xje.2 - 4 1463 c.1107G>T c.(1105-1107)AGG>AGT p.R369S FUT10_uc003xjc.2_Missense_Mutation_p.R376S|FUT10_uc003xjd.2_Missense_Mutation_p.R341S|FUT10_uc011lbi.1_Missense_Mutation_p.R419S|FUT10_uc003xjf.2_Missense_Mutation_p.R307S|FUT10_uc003xjg.2_Missense_Mutation_p.R341S|FUT10_uc003xjh.2_Missense_Mutation_p.R369S NM_032664 NP_116053 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 369 Lumenal (Potential). embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) ATTTCCGTTCCCTGAGAGCTG 0.483 7 67 --- --- --- --- PASS BAG4 9530 broad.mit.edu 37 8 38067632 38067632 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:38067632C>A uc003xky.1 + 5 1277 c.995C>A c.(994-996)TCA>TAA p.S332* BAG4_uc003xkz.1_Nonsense_Mutation_p.S296* NM_004874 NP_004865 O95429 BAG4_HUMAN BCL2-associated athanogene 4 332 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity ovary(1) 1 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) AATGATGATTCAGATCTTTTG 0.458 28 43 --- --- --- --- PASS AGPAT6 137964 broad.mit.edu 37 8 41467233 41467233 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:41467233G>T uc003xnz.2 + 4 1234 c.295G>T c.(295-297)GGT>TGT p.G99C NM_178819 NP_848934 Q86UL3 GPAT4_HUMAN lysophosphatidic acid acyltransferase zeta 99 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity 0 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) TCGTCGAAGTGGTAGTAGTAA 0.468 11 219 --- --- --- --- PASS ANK1 286 broad.mit.edu 37 8 41615563 41615563 + Silent SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:41615563G>T uc003xok.2 - 2 204 c.120C>A c.(118-120)ACC>ACA p.T40T NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.T40T|ANK1_uc003xoj.2_Silent_p.T40T|ANK1_uc003xol.2_Silent_p.T40T|ANK1_uc003xom.2_Silent_p.T73T NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 40 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CCTGGTTACAGGTGTTAATAT 0.498 11 533 --- --- --- --- PASS KIAA0146 23514 broad.mit.edu 37 8 48614343 48614343 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:48614343G>T uc003xqd.2 + 13 1843 c.1834G>T c.(1834-1836)GGA>TGA p.G612* KIAA0146_uc011ldb.1_Nonsense_Mutation_p.G612*|KIAA0146_uc010lxs.2_Nonsense_Mutation_p.G87*|KIAA0146_uc011ldc.1_Nonsense_Mutation_p.G542*|KIAA0146_uc011ldd.1_Nonsense_Mutation_p.G552*|KIAA0146_uc003xqe.2_Nonsense_Mutation_p.G87*|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Nonsense_Mutation_p.G301*|KIAA0146_uc010lxt.2_Nonsense_Mutation_p.G301*|KIAA0146_uc011ldf.1_Nonsense_Mutation_p.G117*|KIAA0146_uc011ldg.1_Nonsense_Mutation_p.G102*|KIAA0146_uc010lxv.1_Nonsense_Mutation_p.G106* NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 612 0 Lung NSC(58;0.175) TCCAAATCTGGGACAAATTGA 0.403 8 187 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55533754 55533754 + Silent SNP C A A rs142600056 byFrequency TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:55533754C>A uc003xsd.1 + 2 376 c.228C>A c.(226-228)CTC>CTA p.L76L RP1_uc011ldy.1_Silent_p.L76L NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 76 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGGTGCCCCTCCCTTTTGGAG 0.612 31 94 --- --- --- --- PASS KCNB2 9312 broad.mit.edu 37 8 73848373 73848373 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:73848373C>G uc003xzb.2 + 3 1371 c.783C>G c.(781-783)TTC>TTG p.F261L NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 261 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) AATGGAAGTTCTTCAAAGGCC 0.453 6 96 --- --- --- --- PASS LRRCC1 85444 broad.mit.edu 37 8 86050478 86050478 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:86050478G>T uc003ycw.2 + 16 2856 c.2702G>T c.(2701-2703)AGT>ATT p.S901I LRRCC1_uc010maa.1_3'UTR|LRRCC1_uc003ycx.2_Missense_Mutation_p.S808I|LRRCC1_uc003ycy.2_Missense_Mutation_p.S881I NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 901 cell division|mitosis centriole|nucleus 0 AAAGCTTACAGGTATTATATA 0.289 6 27 --- --- --- --- PASS RPL30 6156 broad.mit.edu 37 8 99057209 99057209 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:99057209C>A uc003yif.2 - 3 199 c.129G>T c.(127-129)GCG>GCT p.A43A RPL30_uc010mbk.1_Silent_p.A43A|SNORA72_uc003yig.1_5'Flank NM_000989 NP_000980 P62888 RL30_HUMAN ribosomal protein L30 43 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome 0 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.192) TGACCAATTTCGCTTTGCCTT 0.488 7 303 --- --- --- --- PASS DCAF13 25879 broad.mit.edu 37 8 104427350 104427350 + Silent SNP G C C rs140179211 byFrequency TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:104427350G>C uc003yln.2 + 1 409 c.132G>C c.(130-132)ACG>ACC p.T44T SLC25A32_uc003yll.2_5'UTR|SLC25A32_uc011lhr.1_5'UTR|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR NM_015420 NP_056235 Q9NV06 DCA13_HUMAN WD repeats and SOF1 domain containing Error:Variant_position_missing_in_Q9NV06_after_alignment rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex breast(1) 1 GGGCAAGAACGGGGCACAGAC 0.657 23 34 --- --- --- --- PASS KCNV1 27012 broad.mit.edu 37 8 110984530 110984530 + Silent SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:110984530C>G uc003ynr.3 - 2 1290 c.948G>C c.(946-948)CTG>CTC p.L316L KCNV1_uc010mcw.2_Silent_p.L316L NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 316 Helical; Voltage-sensor; Name=Segment S4; (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GAGCCCTGAGCAGCCTCAACA 0.507 8 40 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113249469 113249469 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:113249469C>A uc003ynu.2 - 67 10736 c.10577G>T c.(10576-10578)GGG>GTG p.G3526V CSMD3_uc003yns.2_Missense_Mutation_p.G2728V|CSMD3_uc003ynt.2_Missense_Mutation_p.G3486V|CSMD3_uc011lhx.1_Missense_Mutation_p.G3357V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3526 Extracellular (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 GTTAACTCTCCCAGTGGAAGC 0.378 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 34 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113301647 113301647 + Nonsense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:113301647G>C uc003ynu.2 - 57 9254 c.9095C>G c.(9094-9096)TCA>TGA p.S3032* CSMD3_uc003yns.2_Nonsense_Mutation_p.S2234*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.S2992*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S2863* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3032 Sushi 21.|Extracellular (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 GCAGGTTCTTGATGACTGGCC 0.443 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 12 15 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113332130 113332130 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:113332130C>A uc003ynu.2 - 46 7405 c.7246G>T c.(7246-7248)GGT>TGT p.G2416C CSMD3_uc003yns.2_Missense_Mutation_p.G1618C|CSMD3_uc003ynt.2_Missense_Mutation_p.G2376C|CSMD3_uc011lhx.1_Missense_Mutation_p.G2312C|CSMD3_uc003ynw.1_Missense_Mutation_p.G127C NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2416 Extracellular (Potential).|Sushi 13. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACAGCTTTACCTATTTCAAAT 0.363 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 30 --- --- --- --- PASS TRPS1 7227 broad.mit.edu 37 8 116631517 116631517 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:116631517C>T uc003ynz.2 - 2 1228 c.769G>A c.(769-771)GAT>AAT p.D257N TRPS1_uc011lhy.1_Missense_Mutation_p.D261N|TRPS1_uc003yny.2_Missense_Mutation_p.D270N|TRPS1_uc010mcy.2_Missense_Mutation_p.D257N NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 257 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AGCTCAGCATCTTGCCTGGTG 0.468 Langer-Giedion_syndrome 13 33 --- --- --- --- PASS SLC45A4 57210 broad.mit.edu 37 8 142228416 142228416 + Silent SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr8:142228416C>G uc003ywd.1 - 4 1478 c.1170G>C c.(1168-1170)CGG>CGC p.R390R SLC45A4_uc003ywc.1_Silent_p.R390R|SLC45A4_uc010meq.1_Silent_p.R388R NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 441 transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CGTTGGCGCGCCGGTAGCGGT 0.687 18 18 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8436665 8436665 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr9:8436665G>T uc003zkk.2 - 34 4724 c.4013C>A c.(4012-4014)CCC>CAC p.P1338H PTPRD_uc003zkp.2_Missense_Mutation_p.P932H|PTPRD_uc003zkq.2_Missense_Mutation_p.P931H|PTPRD_uc003zkr.2_Missense_Mutation_p.P922H|PTPRD_uc003zks.2_Missense_Mutation_p.P931H|PTPRD_uc003zkl.2_Missense_Mutation_p.P1329H|PTPRD_uc003zkm.2_Missense_Mutation_p.P1325H|PTPRD_uc003zkn.2_Missense_Mutation_p.P927H|PTPRD_uc003zko.2_Missense_Mutation_p.P928H NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1338 Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTCCAAGATGGGTATTGGAGG 0.338 TSP Lung(15;0.13) 4 12 --- --- --- --- PASS TYRP1 7306 broad.mit.edu 37 9 12695714 12695714 + Silent SNP A C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr9:12695714A>C uc003zkv.3 + 3 763 c.585A>C c.(583-585)TCA>TCC p.S195S NM_000550 NP_000541 P17643 TYRP1_HUMAN tyrosinase-related protein 1 precursor 195 Lumenal, melanosome (Potential). melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity lung(1) 1 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) ACTATTACTCAGTCAAAAAGA 0.453 Oculocutaneous_Albinism 10 12 --- --- --- --- PASS ELAVL2 1993 broad.mit.edu 37 9 23701421 23701421 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr9:23701421G>A uc003zpu.2 - 5 944 c.669C>T c.(667-669)AAC>AAT p.N223N ELAVL2_uc003zps.2_Silent_p.N223N|ELAVL2_uc003zpt.2_Silent_p.N223N|ELAVL2_uc003zpv.2_Silent_p.N223N|ELAVL2_uc003zpw.2_Silent_p.N223N NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 223 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) GATACCTTCTGTTTGGAGACT 0.488 39 50 --- --- --- --- PASS HINT2 84681 broad.mit.edu 37 9 35813519 35813519 + Nonsense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr9:35813519G>A uc003zyh.2 - 3 316 c.250C>T c.(250-252)CAG>TAG p.Q84* SPAG8_uc003zye.2_5'Flank|SPAG8_uc003zyf.2_5'Flank|SPAG8_uc003zyg.2_5'Flank|HINT2_uc003zyi.2_Nonsense_Mutation_p.Q80* NM_032593 NP_115982 Q9BX68 HINT2_HUMAN PKCI-1-related HIT protein precursor 84 HIT. apoptosis|steroid biosynthetic process mitochondrion hydrolase activity 0 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) ACAGGAGCCTGAGGGGCCACA 0.542 OREG0019179 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 22 --- --- --- --- PASS ECM2 1842 broad.mit.edu 37 9 95256390 95256390 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr9:95256390G>A uc004asf.3 - 10 2057 c.1907C>T c.(1906-1908)TCA>TTA p.S636L CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor Error:Variant_position_missing_in_O94769_after_alignment cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 GGCCACATCTGATCTGTTTGT 0.423 26 60 --- --- --- --- PASS ZNF484 83744 broad.mit.edu 37 9 95609565 95609565 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr9:95609565C>A uc004asu.1 - 5 1653 c.1504G>T c.(1504-1506)GGT>TGT p.G502C ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.G504C|ZNF484_uc010mrb.1_Missense_Mutation_p.G466C|ZNF484_uc004asv.1_Missense_Mutation_p.G466C NM_031486 NP_113674 Q5JVG2 ZN484_HUMAN zinc finger protein 484 isoform a 502 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAGGCCTTACCACACACAGTA 0.378 4 29 --- --- --- --- PASS KIAA1529 57653 broad.mit.edu 37 9 100124649 100124649 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr9:100124649C>G uc011lut.1 + 40 5150 c.4377C>G c.(4375-4377)TTC>TTG p.F1459L KIAA1529_uc004axe.1_Missense_Mutation_p.F1254L|KIAA1529_uc004axg.1_Missense_Mutation_p.F1320L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.F439L NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) CCAAAGGCTTCAAGCGACATC 0.617 63 47 --- --- --- --- PASS PPP3R2 5535 broad.mit.edu 37 9 104357046 104357046 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr9:104357046G>A uc004bbr.2 - 1 238 c.167C>T c.(166-168)CCG>CTG p.P56L GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN protein phosphatase 3 regulatory subunit B, beta 53 EF-hand 2. calcium ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) CCGCACCAACGGGTTGTGGCG 0.562 38 28 --- --- --- --- PASS TNC 3371 broad.mit.edu 37 9 117853072 117853072 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr9:117853072C>A uc004bjj.3 - 2 588 c.226G>T c.(226-228)GAC>TAC p.D76Y TNC_uc010mvf.2_Missense_Mutation_p.D76Y NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 76 cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GGTGCCAGGTCTTTCTCCCCA 0.547 80 56 --- --- --- --- PASS BAT2L1 84726 broad.mit.edu 37 9 134305587 134305587 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr9:134305587C>T uc004can.3 + 1 111 c.56C>T c.(55-57)TCG>TTG p.S19L BAT2L1_uc004cam.1_Missense_Mutation_p.S19L NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 19 protein binding 0 AGCAAGTACTCGACTCTCAGC 0.458 22 20 --- --- --- --- PASS POMT1 10585 broad.mit.edu 37 9 134393924 134393924 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr9:134393924G>T uc004cav.2 + 14 1633 c.1431G>T c.(1429-1431)AAG>AAT p.K477N POMT1_uc004cax.2_Missense_Mutation_p.K455N|POMT1_uc011mcj.1_Missense_Mutation_p.K233N|POMT1_uc004cau.2_Missense_Mutation_p.K455N|POMT1_uc004caw.2_Missense_Mutation_p.K401N|POMT1_uc011mck.1_Missense_Mutation_p.K338N|POMT1_uc011mcl.1_Missense_Mutation_p.K303N|POMT1_uc011mcm.1_Missense_Mutation_p.K425N|POMT1_uc011mcn.1_Missense_Mutation_p.K180N NM_007171 NP_009102 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 isoform a 477 MIR 3. multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding upper_aerodigestive_tract(1) 1 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) CTGTCTTAAAGGTAAGGACAC 0.552 9 194 --- --- --- --- PASS SETX 23064 broad.mit.edu 37 9 135204730 135204730 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr9:135204730G>A uc004cbk.2 - 10 2438 c.2255C>T c.(2254-2256)ACT>ATT p.T752I SETX_uc004cbj.2_Missense_Mutation_p.T371I|SETX_uc010mzt.2_Missense_Mutation_p.T371I NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 752 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CAAAGCATCAGTGCTAGAATC 0.373 36 21 --- --- --- --- PASS DIP2C 22982 broad.mit.edu 37 10 372998 372998 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:372998C>T uc001ifp.2 - 31 3962 c.3872G>A c.(3871-3873)CGG>CAG p.R1291Q NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 1291 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GCTGACGGCCCGCGGGTGAAG 0.607 10 17 --- --- --- --- PASS ITIH5 80760 broad.mit.edu 37 10 7608015 7608015 + Silent SNP G T T rs149503594 TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:7608015G>T uc001ijq.2 - 13 2584 c.2505C>A c.(2503-2505)TCC>TCA p.S835S ITIH5_uc001ijp.2_Silent_p.S621S NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 835 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 GGCAGTTGCTGGAAAGGCCCT 0.557 23 30 --- --- --- --- PASS ITIH5 80760 broad.mit.edu 37 10 7679442 7679442 + Splice_Site SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:7679442C>G uc001ijq.2 - 5 481 c.402_splice c.e5-1 p.G134_splice ITIH5_uc001ijr.1_Splice_Site_p.G134_splice NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 CCCCTTCTCTCTGTCAGGAAA 0.547 19 22 --- --- --- --- PASS TAF3 83860 broad.mit.edu 37 10 8007024 8007024 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:8007024C>A uc010qbd.1 + 3 1551 c.1551C>A c.(1549-1551)TCC>TCA p.S517S NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 517 Lys-rich. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 AGCTGCCTTCCTCCGTGGAGG 0.338 5 35 --- --- --- --- PASS SPAG6 9576 broad.mit.edu 37 10 22675703 22675703 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:22675703G>C uc001iri.2 + 5 635 c.493G>C c.(493-495)GAT>CAT p.D165H SPAG6_uc001irj.2_Missense_Mutation_p.D165H|SPAG6_uc010qct.1_Missense_Mutation_p.D135H|SPAG6_uc009xkh.2_Missense_Mutation_p.D143H NM_012443 NP_036575 O75602 SPAG6_HUMAN sperm associated antigen 6 isoform 1 165 ARM 4. cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(1) 1 AGCTGTGGTGGATGCAGGAGC 0.458 6 6 --- --- --- --- PASS NRP1 8829 broad.mit.edu 37 10 33552639 33552639 + Nonsense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:33552639G>C uc001iwx.3 - 4 1116 c.593C>G c.(592-594)TCA>TGA p.S198* NRP1_uc001iwv.3_Nonsense_Mutation_p.S198*|NRP1_uc009xlz.2_Nonsense_Mutation_p.S198*|NRP1_uc001iww.3_Nonsense_Mutation_p.S17*|NRP1_uc001iwy.3_Nonsense_Mutation_p.S198*|NRP1_uc001iwz.2_Nonsense_Mutation_p.S198*|NRP1_uc001ixa.2_Nonsense_Mutation_p.S198*|NRP1_uc001ixb.1_Nonsense_Mutation_p.S198*|NRP1_uc001ixc.1_Nonsense_Mutation_p.S198* NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 198 Extracellular (Potential).|CUB 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) TGGAGGATTTGAGTCAGGCTC 0.463 5 32 --- --- --- --- PASS AGAP7 653268 broad.mit.edu 37 10 51465352 51465352 + Silent SNP C A A rs4043643 TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:51465352C>A uc001jio.2 - 7 1230 c.1104G>T c.(1102-1104)CCG>CCT p.P368P PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron NM_001077685 NP_001071153 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 368 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 GAGAGGGGGGCGGGTTGAGCT 0.512 83 117 --- --- --- --- PASS TMEM26 219623 broad.mit.edu 37 10 63212763 63212763 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:63212763C>A uc001jlo.2 - 1 446 c.77G>T c.(76-78)CGA>CTA p.R26L TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA|uc001jlr.2_RNA NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 26 integral to membrane 0 Prostate(12;0.0112) CTCGGTCACTCGCCAGACCCC 0.632 5 71 --- --- --- --- PASS CH25H 9023 broad.mit.edu 37 10 90966727 90966727 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:90966727G>A uc001kfz.2 - 1 345 c.323C>T c.(322-324)GCC>GTC p.A108V NM_003956 NP_003947 O95992 CH25H_HUMAN cholesterol 25-hydroxylase 108 bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process cytosol|endoplasmic reticulum membrane|integral to membrane cholesterol 25-hydroxylase activity|iron ion binding 0 Colorectal(252;0.0161) GBM - Glioblastoma multiforme(2;0.000133) CGGGCTGCGGGCCCAATGCAG 0.627 15 6 --- --- --- --- PASS CPEB3 22849 broad.mit.edu 37 10 93841226 93841226 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:93841226C>A uc001khw.1 - 9 1893 c.1720G>T c.(1720-1722)GGT>TGT p.G574C CPEB3_uc001khu.1_Missense_Mutation_p.G583C|CPEB3_uc001khv.1_Missense_Mutation_p.G560C|CPEB3_uc010qnn.1_Missense_Mutation_p.G560C NM_014912 NP_055727 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding 574 RRM 2. nucleotide binding|RNA binding 0 Colorectal(252;0.0869) CAGACACCACCATACAAACGG 0.473 4 45 --- --- --- --- PASS TMEM20 159371 broad.mit.edu 37 10 95661025 95661025 + Silent SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:95661025G>T uc001kjg.1 + 3 937 c.876G>T c.(874-876)GGG>GGT p.G292G TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Silent_p.G291G|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Silent_p.G275G|TMEM20_uc001kjj.2_Intron NM_001134658 NP_001128130 Q2M3R5 TMM20_HUMAN transmembrane protein 20 isoform 1 292 DUF6 2.|Helical; (Potential). integral to membrane upper_aerodigestive_tract(1) 1 Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189) STAD - Stomach adenocarcinoma(243;0.00345) TATTCATTGGGCTCTTTGGTT 0.428 12 12 --- --- --- --- PASS SORBS1 10580 broad.mit.edu 37 10 97170424 97170424 + Silent SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:97170424G>C uc001kkp.2 - 8 966 c.921C>G c.(919-921)GTC>GTG p.V307V SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Silent_p.V140V|SORBS1_uc001kkm.2_Silent_p.V163V|SORBS1_uc001kko.2_Silent_p.V307V|SORBS1_uc001kkq.2_Silent_p.V238V|SORBS1_uc001kkr.2_Silent_p.V143V|SORBS1_uc001kks.2_Silent_p.V143V|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.V184V|SORBS1_uc001kkv.2_Silent_p.V275V|SORBS1_uc001kkw.2_Silent_p.V307V|SORBS1_uc010qoe.1_Silent_p.V152V|SORBS1_uc010qof.1_Silent_p.V505V NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 307 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) TAGTAGGATTGACAATCGTTG 0.463 12 26 --- --- --- --- PASS SORBS1 10580 broad.mit.edu 37 10 97174525 97174525 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:97174525G>C uc001kkp.2 - 7 581 c.536C>G c.(535-537)CCT>CGT p.P179R SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.P179R|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Missense_Mutation_p.P147R|SORBS1_uc001kkw.2_Missense_Mutation_p.P179R|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Missense_Mutation_p.P377R|SORBS1_uc001kkx.1_Missense_Mutation_p.P147R NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 179 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) AGGTGTTGGAGGTCTGGCAGT 0.582 40 17 --- --- --- --- PASS PDCD11 22984 broad.mit.edu 37 10 105166544 105166544 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:105166544G>A uc001kwy.1 + 7 954 c.867G>A c.(865-867)CAG>CAA p.Q289Q NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 289 S1 motif 3. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CTCAGGTACAGAAGGTAAGCT 0.323 6 44 --- --- --- --- PASS ITPRIP 85450 broad.mit.edu 37 10 106074526 106074526 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:106074526G>A uc001kye.2 - 2 1357 c.1284C>T c.(1282-1284)CTC>CTT p.L428L ITPRIP_uc001kyf.2_Silent_p.L428L|ITPRIP_uc001kyg.2_Silent_p.L428L NM_033397 NP_203755 Q8IWB1 IPRI_HUMAN inositol 1,4,5-triphosphate receptor interacting 428 plasma membrane 0 GGTAGCTGCTGAGCCCGCTGG 0.667 9 24 --- --- --- --- PASS NRAP 4892 broad.mit.edu 37 10 115381824 115381824 + Missense_Mutation SNP A T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:115381824A>T uc001laj.2 - 24 2737 c.2573T>A c.(2572-2574)CTG>CAG p.L858Q NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.L823Q|NRAP_uc001lal.3_Missense_Mutation_p.L858Q NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 858 Nebulin 21. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CTTGTACTCCAGCTCACTCTG 0.517 24 19 --- --- --- --- PASS DHX32 55760 broad.mit.edu 37 10 127555576 127555576 + Silent SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:127555576G>T uc001ljf.1 - 2 950 c.459C>A c.(457-459)ACC>ACA p.T153T DHX32_uc001ljg.1_Silent_p.T153T NM_018180 NP_060650 Q7L7V1 DHX32_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32 153 Helicase ATP-binding. mitochondrion|nucleus ATP binding|helicase activity breast(2)|ovary(1)|lung(1) 4 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) TTGTTTCGTTGGTACAGCAGT 0.502 6 108 --- --- --- --- PASS LRRC27 80313 broad.mit.edu 37 10 134175013 134175013 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:134175013C>A uc010quw.1 + 9 1418 c.1223C>A c.(1222-1224)CCA>CAA p.P408Q LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.P408Q|LRRC27_uc001llj.2_Missense_Mutation_p.P346Q|LRRC27_uc001llk.3_Missense_Mutation_p.P281Q NM_030626 NP_085129 Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 isoform a 408 ovary(1) 1 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) AGGAAAGTACCACTGAATCCG 0.433 9 227 --- --- --- --- PASS OR51G1 79324 broad.mit.edu 37 11 4945326 4945326 + Missense_Mutation SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:4945326T>C uc010qyr.1 - 1 244 c.244A>G c.(244-246)ACT>GCT p.T82A NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CCCAGCACAGTGGGCAGTGTG 0.493 11 13 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6648290 6648290 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:6648290C>A uc001mem.1 - 14 6390 c.5980G>T c.(5980-5982)GGT>TGT p.G1994C NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1994 Cadherin 19.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCATTGGCACCAGCATCACGA 0.622 5 37 --- --- --- --- PASS NLRP10 338322 broad.mit.edu 37 11 7982058 7982058 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:7982058C>G uc001mfv.1 - 2 1118 c.1101G>C c.(1099-1101)CAG>CAC p.Q367H NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 367 NACHT. ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCTCTCCATCTGCCCCTGCA 0.522 19 46 --- --- --- --- PASS MICAL2 9645 broad.mit.edu 37 11 12280014 12280014 + Splice_Site SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:12280014G>T uc001mjz.2 + 25 3431 c.3143_splice c.e25-1 p.G1048_splice MICAL2_uc010rch.1_Splice_Site_p.G858_splice|MICAL2_uc001mka.2_Splice_Site_p.G1048_splice|MICAL2_uc010rci.1_Splice_Site_p.G1027_splice|MICAL2_uc001mkb.2_Splice_Site_p.G822_splice|MICAL2_uc001mkc.2_Splice_Site_p.G801_splice|MICAL2_uc001mkd.2_Splice_Site_p.G630_splice|MICAL2_uc010rcj.1_Splice_Site_p.G260_splice|MICAL2_uc001mkf.2_Splice_Site NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) TCTTTTTACAGGCAAATTTTA 0.408 6 107 --- --- --- --- PASS C11orf58 10944 broad.mit.edu 37 11 16766187 16766187 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:16766187G>A uc001mmk.2 + 2 281 c.103G>A c.(103-105)GAA>AAA p.E35K C11orf58_uc010rct.1_5'UTR NM_014267 NP_055082 O00193 SMAP_HUMAN small acidic protein isoform a 35 0 CTTGGGTAATGAAGAGAGAAA 0.333 10 16 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 31099473 31099473 + Splice_Site SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:31099473C>T uc009yjk.1 - 6 651 c.582_splice c.e6-1 p.R194_splice uc009yjl.1_Splice_Site_p.R122_splice|DCDC1_uc001msu.1_Splice_Site_p.R365_splice RecName: Full=Doublecortin domain-containing protein 5; TCCACTATGTCTGTAACGAAA 0.368 6 6 --- --- --- --- PASS TRIM48 79097 broad.mit.edu 37 11 55032762 55032762 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:55032762C>A uc010rid.1 + 2 517 c.431C>A c.(430-432)CCC>CAC p.P144H NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 128 B box-type. intracellular zinc ion binding 0 AGACACTGTCCCGCTGAGTGG 0.493 11 24 --- --- --- --- PASS OR5D13 390142 broad.mit.edu 37 11 55541450 55541450 + Silent SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:55541450T>C uc010ril.1 + 1 537 c.537T>C c.(535-537)TTT>TTC p.F179F NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TAAATAATTTTATCTGTGACC 0.418 21 27 --- --- --- --- PASS OR5R1 219479 broad.mit.edu 37 11 56184925 56184925 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:56184925G>C uc010rji.1 - 1 784 c.784C>G c.(784-786)CCC>GCC p.P262A NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TTTGATTTGGGCTGTAGGTAC 0.448 23 19 --- --- --- --- PASS OR5M1 390168 broad.mit.edu 37 11 56380709 56380709 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:56380709C>A uc001nja.1 - 1 270 c.270G>T c.(268-270)AAG>AAT p.K90N NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 AGGAGATGGTCTTCTGTTCTG 0.448 20 55 --- --- --- --- PASS OR5AR1 219493 broad.mit.edu 37 11 56431846 56431846 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:56431846C>T uc010rjm.1 + 1 685 c.685C>T c.(685-687)CGT>TGT p.R229C NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CATCAGAATGCGTTCAGCTGA 0.478 21 24 --- --- --- --- PASS MS4A2 2206 broad.mit.edu 37 11 59857872 59857872 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:59857872G>C uc001nop.2 + 3 352 c.250G>C c.(250-252)GAT>CAT p.D84H MS4A2_uc009ymu.2_Missense_Mutation_p.D84H NM_000139 NP_000130 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 84 Extracellular (Potential). cell proliferation|humoral immune response integral to plasma membrane calcium channel activity ovary(1) 1 all_epithelial(135;0.245) Omalizumab(DB00043) CTCTGTACTTGATATTTCACA 0.323 30 38 --- --- --- --- PASS MS4A13 503497 broad.mit.edu 37 11 60310041 60310041 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:60310041C>T uc001nps.2 + 7 775 c.452C>T c.(451-453)ACT>ATT p.T151I MS4A13_uc009ync.2_Missense_Mutation_p.T111I|MS4A13_uc009ynd.2_Missense_Mutation_p.T92I NM_001012417 NP_001012417 Q5J8X5 M4A13_HUMAN membrane-spanning 4-domains, subfamily A, member 151 integral to membrane 0 GCTGAGAGCACTCCTTAAAAA 0.358 3 11 --- --- --- --- PASS CCDC88B 283234 broad.mit.edu 37 11 64124516 64124516 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:64124516G>T uc001nzy.2 + 27 4425 c.4381G>T c.(4381-4383)GAG>TAG p.E1461* CCDC88B_uc001oaa.2_Silent_p.L565L|CCDC88B_uc001oab.1_3'UTR|CCDC88B_uc001oac.2_Silent_p.L76L|RPS6KA4_uc001oad.2_5'Flank|RPS6KA4_uc001oae.2_5'Flank|RPS6KA4_uc010rnl.1_5'Flank|RPS6KA4_uc001oaf.2_5'Flank|RPS6KA4_uc009ypp.2_5'Flank NM_032251 NP_115627 A6NC98 CC88B_HUMAN coiled-coil domain containing 88 1461 microtubule cytoskeleton organization cytoplasm microtubule binding ovary(3)|skin(1) 4 TCTAGGCCCTGAGGTACAGGA 0.637 6 122 --- --- --- --- PASS ATG2A 23130 broad.mit.edu 37 11 64664289 64664289 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:64664289C>T uc001obx.2 - 38 5318 c.5203G>A c.(5203-5205)GAC>AAC p.D1735N ATG2A_uc001obw.2_Missense_Mutation_p.D500N NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1735 protein binding ovary(1)|central_nervous_system(1) 2 TTGCGGATGTCCTGCAGCCAC 0.637 OREG0004026 type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 10 22 --- --- --- --- PASS C11orf80 79703 broad.mit.edu 37 11 66555707 66555707 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:66555707G>A uc001ojf.2 + 5 607 c.600G>A c.(598-600)ATG>ATA p.M200I C11orf80_uc001ojg.2_5'UTR|C11orf80_uc001ojh.2_Intron|C11orf80_uc001oji.2_5'UTR|C11orf80_uc010rpk.1_Missense_Mutation_p.M34I NM_024650 NP_078926 Q8N6T0 CK080_HUMAN hypothetical protein LOC79703 45 0 CTCAGGATATGACAGGGGTAA 0.388 10 55 --- --- --- --- PASS PPFIA1 8500 broad.mit.edu 37 11 70171654 70171654 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:70171654G>T uc001opo.2 + 5 778 c.580G>T c.(580-582)GAG>TAG p.E194* PPFIA1_uc001opn.1_Nonsense_Mutation_p.E194*|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_5'Flank NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 194 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TTTGTTAGAAGAGGAATTAGG 0.373 6 113 --- --- --- --- PASS ATG16L2 89849 broad.mit.edu 37 11 72539821 72539821 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:72539821G>T uc001otd.2 + 16 1710 c.1670G>T c.(1669-1671)AGC>ATC p.S557I ATG16L2_uc001ote.2_Missense_Mutation_p.S451I|ATG16L2_uc009ytj.1_3'UTR|ATG16L2_uc001otf.2_Missense_Mutation_p.S312I|ATG16L2_uc001otg.2_Missense_Mutation_p.S291I|ATG16L2_uc009ytk.2_Missense_Mutation_p.S312I NM_033388 NP_203746 Q8NAA4 A16L2_HUMAN ATG16 autophagy related 16-like 2 557 WD 6. autophagy|protein transport cytoplasm protein binding 0 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) GCTGTGTTCAGGTATGTCCGT 0.587 9 196 --- --- --- --- PASS SLCO2B1 11309 broad.mit.edu 37 11 74880411 74880411 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:74880411C>A uc001owb.2 + 5 1029 c.642C>A c.(640-642)ATC>ATA p.I214I SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Silent_p.I70I|SLCO2B1_uc010rrs.1_Silent_p.I98I|SLCO2B1_uc001owc.2_Intron|SLCO2B1_uc001owd.2_Silent_p.I192I NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 214 Helical; Name=4; (Potential). sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) TCTCCTACATCGATGACTTTG 0.602 4 59 --- --- --- --- PASS AQP11 282679 broad.mit.edu 37 11 77301476 77301476 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:77301476C>T uc001oyj.2 + 1 797 c.439C>T c.(439-441)CAC>TAC p.H147Y AQP11_uc009yuu.2_Intron NM_173039 NP_766627 Q8NBQ7 AQP11_HUMAN aquaporin 11 147 cell surface|integral to membrane transporter activity 0 all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249) Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) GACCCAGTATCACGTCAGCGA 0.592 19 51 --- --- --- --- PASS GRM5 2915 broad.mit.edu 37 11 88780767 88780767 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:88780767C>A uc001pcq.2 - 1 474 c.274G>T c.(274-276)GGC>TGC p.G92C GRM5_uc009yvm.2_Missense_Mutation_p.G92C|GRM5_uc009yvn.1_Missense_Mutation_p.G92C NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 92 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.G92R(1) central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) ATCTCACAGCCCAGTGTGATG 0.522 7 16 --- --- --- --- PASS TRPC6 7225 broad.mit.edu 37 11 101362388 101362388 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:101362388C>A uc001pgk.3 - 3 1452 c.1027G>T c.(1027-1029)GAG>TAG p.E343* TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Nonsense_Mutation_p.E343* NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 343 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AGAATGGCCTCGACTTCTTCA 0.408 6 167 --- --- --- --- PASS BIRC3 330 broad.mit.edu 37 11 102201750 102201750 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:102201750G>A uc001pgx.2 + 7 1324 c.1102G>A c.(1102-1104)GAA>AAA p.E368K NM_182962 NP_892007 Q13489 BIRC3_HUMAN baculoviral IAP repeat-containing protein 3 368 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|skin(1) 4 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) TGAACCTGGAGAAGACCATTC 0.333 T MALT1 MALT 7 45 --- --- --- --- PASS BIRC3 330 broad.mit.edu 37 11 102201903 102201903 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:102201903G>C uc001pgx.2 + 7 1477 c.1255G>C c.(1255-1257)GAC>CAC p.D419H NM_182962 NP_892007 Q13489 BIRC3_HUMAN baculoviral IAP repeat-containing protein 3 419 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|skin(1) 4 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) TCTTGTGTTAGACTTACTCAA 0.363 T MALT1 MALT 11 51 --- --- --- --- PASS TMPRSS5 80975 broad.mit.edu 37 11 113568023 113568023 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:113568023C>A uc001poc.3 - 5 568 c.446G>T c.(445-447)TGG>TTG p.W149L TMPRSS5_uc009yys.2_Missense_Mutation_p.W140L|TMPRSS5_uc009yyt.2_Missense_Mutation_p.W105L|TMPRSS5_uc001pod.3_5'UTR|TMPRSS5_uc010rww.1_Missense_Mutation_p.W139L|TMPRSS5_uc009yyu.2_5'UTR|TMPRSS5_uc010rwx.1_Missense_Mutation_p.W105L NM_030770 NP_110397 Q9H3S3 TMPS5_HUMAN transmembrane protease, serine 5 149 SRCR.|Extracellular (Potential). proteolysis integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity ovary(1) 1 all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502) CCCAAGGCTCCAGCAGATCTG 0.617 6 76 --- --- --- --- PASS TMPRSS5 80975 broad.mit.edu 37 11 113570845 113570845 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:113570845C>T uc001poc.3 - 2 171 c.49G>A c.(49-51)GAG>AAG p.E17K TMPRSS5_uc009yys.2_5'UTR|TMPRSS5_uc009yyt.2_Intron|TMPRSS5_uc001pod.3_Intron|TMPRSS5_uc010rww.1_Missense_Mutation_p.E7K|TMPRSS5_uc009yyu.2_Intron|TMPRSS5_uc010rwx.1_Intron NM_030770 NP_110397 Q9H3S3 TMPS5_HUMAN transmembrane protease, serine 5 17 Cytoplasmic (Potential). proteolysis integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity ovary(1) 1 all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502) GGGCCCTCCTCTGCATACTGG 0.602 7 11 --- --- --- --- PASS SIDT2 51092 broad.mit.edu 37 11 117063911 117063911 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:117063911C>A uc001pqh.1 + 23 2189 c.2148C>A c.(2146-2148)TCC>TCA p.S716S SIDT2_uc010rxe.1_Silent_p.S716S|SIDT2_uc001pqg.2_Silent_p.S737S|SIDT2_uc001pqi.1_Silent_p.S713S|SIDT2_uc001pqj.1_Silent_p.S28S NM_001040455 NP_001035545 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 precursor 716 Helical; (Potential). integral to membrane|lysosomal membrane 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) ATTTCGCTTCCTACTTGTTGG 0.552 13 621 --- --- --- --- PASS RNF214 257160 broad.mit.edu 37 11 117153509 117153509 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:117153509C>G uc001pqt.2 + 13 1938 c.1893C>G c.(1891-1893)ATC>ATG p.I631M RNF214_uc001pqu.2_Missense_Mutation_p.I631M|RNF214_uc010rxf.1_Missense_Mutation_p.I476M NM_207343 NP_997226 Q8ND24 RN214_HUMAN ring finger protein 214 631 zinc ion binding 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) TGGCCCAAATCAGTACCCCAA 0.478 11 63 --- --- --- --- PASS VSIG2 23584 broad.mit.edu 37 11 124617436 124617436 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:124617436C>A uc001qas.2 - 7 1055 c.979G>T c.(979-981)GTG>TTG p.V327L NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 327 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) AGAAGTCACACGACCATAGGG 0.527 27 40 --- --- --- --- PASS ADAMTS8 11095 broad.mit.edu 37 11 130286835 130286835 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr11:130286835C>G uc001qgg.3 - 3 1454 c.1096G>C c.(1096-1098)GGG>CGG p.G366R NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 366 Peptidase M12B. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CAAATCTTACCTAGTTCATGG 0.562 49 47 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 1005676 1005676 + Missense_Mutation SNP A G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:1005676A>G uc001qio.3 + 24 6530 c.6023A>G c.(6022-6024)AAT>AGT p.N2008S WNK1_uc001qip.3_Missense_Mutation_p.N1760S|WNK1_uc001qir.3_Missense_Mutation_p.N1181S NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 2008 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TCACATCTAAATGGGCCGTCT 0.502 28 61 --- --- --- --- PASS A2ML1 144568 broad.mit.edu 37 12 8975787 8975787 + Silent SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:8975787G>T uc001quz.3 + 2 170 c.72G>T c.(70-72)CTG>CTT p.L24L NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor Error:Variant_position_missing_in_B3KVV6_after_alignment extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 GAAACTACCTGGTGACATTAC 0.368 5 58 --- --- --- --- PASS TAS2R42 353164 broad.mit.edu 37 12 11339450 11339450 + Missense_Mutation SNP A T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:11339450A>T uc001qzr.1 - 1 94 c.94T>A c.(94-96)TGC>AGC p.C32S PRB4_uc001qzf.1_Intron NM_181429 NP_852094 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 32 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.0455) CCTTCAGAGCAGTTTACCAGT 0.448 14 32 --- --- --- --- PASS PRB4 5545 broad.mit.edu 37 12 11461631 11461631 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:11461631G>C uc001qzf.1 - 3 320 c.286C>G c.(286-288)CCA>GCA p.P96A PRB4_uc001qzt.2_Missense_Mutation_p.P96A NM_002723 NP_002714 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 117 4.|9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. Missing (in allele M and allele S). extracellular region ovary(1) 1 GGCTTTCCTGGATGAGGTGGG 0.597 HNSCC(22;0.051) 16 308 --- --- --- --- PASS CMAS 55907 broad.mit.edu 37 12 22208428 22208428 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:22208428G>A uc001rfm.2 + 3 522 c.443G>A c.(442-444)TGT>TAT p.C148Y CMAS_uc001rfn.2_RNA NM_018686 NP_061156 Q8NFW8 NEUA_HUMAN cytidine monophospho-N-acetylneuraminic acid 148 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity ovary(1)|pancreas(1)|skin(1) 3 ACTTCTCCATGTTTACATCCT 0.343 8 18 --- --- --- --- PASS PRICKLE1 144165 broad.mit.edu 37 12 42853690 42853690 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:42853690G>T uc010skv.1 - 8 2704 c.2417C>A c.(2416-2418)CCC>CAC p.P806H PRICKLE1_uc001rnl.2_Missense_Mutation_p.P806H|PRICKLE1_uc010skw.1_Missense_Mutation_p.P806H|PRICKLE1_uc001rnm.2_Missense_Mutation_p.P806H|PRICKLE1_uc001rnk.1_5'Flank NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 806 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) CTGAGGGGTGGGAAGTGCAGA 0.433 25 61 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43833468 43833468 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:43833468C>A uc010skx.1 - 18 2550 c.2550G>T c.(2548-2550)TGG>TGT p.W850C ADAMTS20_uc001rno.1_Missense_Mutation_p.W4C|ADAMTS20_uc001rnp.1_Missense_Mutation_p.W4C NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 850 TSP type-1 2. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CATAGGGGTCCCATGTGAACA 0.423 5 48 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49441761 49441761 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:49441761C>A uc001rta.3 - 14 4223 c.4223G>T c.(4222-4224)TGT>TTT p.C1408F NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1408 Cys-rich.|PHD-type 3. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GCTGTTGACACAGTAAGGGTG 0.552 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 13 24 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49443899 49443899 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:49443899C>A uc001rta.3 - 11 3472 c.3472G>T c.(3472-3474)GAG>TAG p.E1158* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1158 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GCCAGCTCCTCGGGGTCCAGG 0.602 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 4 60 --- --- --- --- PASS SCN8A 6334 broad.mit.edu 37 12 52162746 52162746 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:52162746C>A uc001ryw.2 + 17 3177 c.2999C>A c.(2998-3000)TCA>TAA p.S1000* SCN8A_uc010snl.1_Nonsense_Mutation_p.S865* NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 1000 II. axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CTCCAGATCTCAGTGATCCGT 0.537 6 61 --- --- --- --- PASS MIR148B 442892 broad.mit.edu 37 12 54731020 54731020 + RNA SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:54731020G>T hsa-mir-148b|MI0000811 + c.21G>T COPZ1_uc001sfs.1_Intron|COPZ1_uc001sft.2_Intron|COPZ1_uc009znm.1_Intron|COPZ1_uc010sot.1_Intron|uc010sou.1_RNA 0 TAGCATTTGAGGTGAAGTTCT 0.398 10 142 --- --- --- --- PASS RDH5 5959 broad.mit.edu 37 12 56115129 56115129 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:56115129G>C uc001shk.2 + 2 344 c.161G>C c.(160-162)CGA>CCA p.R54P BLOC1S1_uc001shj.3_Intron|RDH5_uc010spt.1_Missense_Mutation_p.R54P|RDH5_uc010spu.1_5'UTR|RDH5_uc001shl.2_Missense_Mutation_p.R54P NM_002905 NP_002896 Q92781 RDH1_HUMAN retinol dehydrogenase 5 (11-cis and 9-cis) 54 NADP (By similarity). response to stimulus|visual perception membrane binding|retinol dehydrogenase activity ovary(1) 1 NADH(DB00157)|Vitamin A(DB00162) AGAGGCTTCCGAGTCCTGGCC 0.662 OREG0021907 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 29 --- --- --- --- PASS DGKA 1606 broad.mit.edu 37 12 56347166 56347166 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:56347166G>T uc001sij.2 + 23 2360 c.2096G>T c.(2095-2097)GGA>GTA p.G699V DGKA_uc001sik.2_Missense_Mutation_p.G699V|DGKA_uc001sil.2_Missense_Mutation_p.G699V|DGKA_uc001sim.2_Missense_Mutation_p.G699V|DGKA_uc001sin.2_Missense_Mutation_p.G699V|DGKA_uc009zof.2_Missense_Mutation_p.G345V|DGKA_uc001sio.2_Missense_Mutation_p.G441V NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 699 G -> V (in Ref. 1; CAA44396). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) CAAATTGACGGAGAACCCTGG 0.468 10 338 --- --- --- --- PASS ANKRD52 283373 broad.mit.edu 37 12 56645804 56645804 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:56645804G>A uc001skm.3 - 15 1677 c.1587C>T c.(1585-1587)GCC>GCT p.A529A NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 529 ANK 15. protein binding ovary(2) 2 CTCACAAGAAGGCCTCCTTCC 0.562 19 30 --- --- --- --- PASS INHBC 3626 broad.mit.edu 37 12 57843575 57843575 + Missense_Mutation SNP A T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:57843575A>T uc001snv.1 + 2 956 c.829A>T c.(829-831)ATA>TTA p.I277L NM_005538 NP_005529 P55103 INHBC_HUMAN inhibin beta C chain preproprotein 277 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding 0 GAACTTCTGCATAGGGCAGTG 0.542 14 37 --- --- --- --- PASS MON2 23041 broad.mit.edu 37 12 62954451 62954451 + Missense_Mutation SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:62954451T>C uc001sre.2 + 26 3981 c.3590T>C c.(3589-3591)GTT>GCT p.V1197A MON2_uc009zqj.2_Missense_Mutation_p.V1197A|MON2_uc010ssl.1_Missense_Mutation_p.V1125A|MON2_uc010ssm.1_Missense_Mutation_p.V1174A|MON2_uc010ssn.1_Missense_Mutation_p.V1197A|MON2_uc001srf.2_Missense_Mutation_p.V960A|MON2_uc001srg.2_Missense_Mutation_p.V72A NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 1198 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) CCTGTGCCTGTTCTTATAGGG 0.448 9 13 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70933760 70933760 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:70933760C>A uc001swb.3 - 22 5013 c.4983G>T c.(4981-4983)AGG>AGT p.R1661S PTPRB_uc010sto.1_Missense_Mutation_p.R1571S|PTPRB_uc010stp.1_Missense_Mutation_p.R1571S|PTPRB_uc001swc.3_Missense_Mutation_p.R1879S|PTPRB_uc001swa.3_Missense_Mutation_p.R1791S NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1661 Cytoplasmic (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) ATGGTCGATCCCTACGAATGC 0.408 8 17 --- --- --- --- PASS SLC6A15 55117 broad.mit.edu 37 12 85255533 85255533 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:85255533C>A uc001szv.2 - 12 2564 c.2071G>T c.(2071-2073)GGT>TGT p.G691C SLC6A15_uc010sul.1_Missense_Mutation_p.G584C|SLC6A15_uc001szw.1_3'UTR NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 691 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 ATATTTTTACCAAAATTTGGA 0.443 8 16 --- --- --- --- PASS CEP290 80184 broad.mit.edu 37 12 88449427 88449427 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:88449427G>T uc001tar.2 - 50 7230 c.6886C>A c.(6886-6888)CTT>ATT p.L2296I CEP290_uc001taq.2_Missense_Mutation_p.L1356I|uc001tas.2_Intron NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 2296 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 AGCTGTTTAAGGTCAGTAATG 0.294 4 10 --- --- --- --- PASS CEP290 80184 broad.mit.edu 37 12 88479931 88479931 + Nonsense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:88479931G>C uc001tar.2 - 34 4666 c.4322C>G c.(4321-4323)TCA>TGA p.S1441* CEP290_uc001taq.2_Nonsense_Mutation_p.S501* NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 1441 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 GTCAGGGATTGATCCTGTAGC 0.348 13 22 --- --- --- --- PASS BTG1 694 broad.mit.edu 37 12 92539232 92539232 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:92539232C>G uc001tby.3 - 1 442 c.80G>C c.(79-81)CGC>CCC p.R27P BTG1_uc001tbv.1_5'Flank|BTG1_uc001tbw.1_5'Flank|BTG1_uc001tbx.1_5'Flank|BTG1_uc009zss.1_5'Flank|uc001tca.2_5'Flank NM_001731 NP_001722 P62324 BTG1_HUMAN B-cell translocation protein 1 27 cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|transcription cofactor activity 0 Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09) CCCCTTGGTGCGGAGAAACTT 0.592 T MYC BCLL 9 39 --- --- --- --- PASS ANO4 121601 broad.mit.edu 37 12 101490328 101490328 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:101490328G>C uc010svm.1 + 19 2325 c.1753G>C c.(1753-1755)GAG>CAG p.E585Q ANO4_uc001thw.2_Missense_Mutation_p.E550Q|ANO4_uc001thx.2_Missense_Mutation_p.E585Q|ANO4_uc001thy.2_Missense_Mutation_p.E105Q NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 585 Extracellular (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 GCCTCGCACAGAGTCTGAGTG 0.478 HNSCC(74;0.22) 19 17 --- --- --- --- PASS CIT 11113 broad.mit.edu 37 12 120139707 120139707 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:120139707G>A uc001txi.1 - 41 5288 c.5235C>T c.(5233-5235)CTC>CTT p.L1745L CIT_uc001txh.1_Silent_p.L1264L|CIT_uc001txj.1_Silent_p.L1787L NM_007174 NP_009105 O14578 CTRO_HUMAN citron 1745 CNH. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TGGTTCCAATGAGGATACTGT 0.512 39 97 --- --- --- --- PASS MLEC 9761 broad.mit.edu 37 12 121132899 121132899 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:121132899G>T uc001tyy.1 + 4 744 c.593G>T c.(592-594)GGG>GTG p.G198V NM_014730 NP_055545 Q14165 MLEC_HUMAN malectin precursor 198 Lumenal (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding ovary(1) 1 TTTTCCTAGGGGTACTATGAC 0.493 9 193 --- --- --- --- PASS RAN 5901 broad.mit.edu 37 12 131359125 131359125 + Silent SNP G T T rs1802283 TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:131359125G>T uc001uir.2 + 5 347 c.282G>T c.(280-282)TCG>TCT p.S94S RAN_uc010tbk.1_Silent_p.S6S|RAN_uc010tbl.1_Silent_p.S6S|RAN_uc001uis.2_Silent_p.S114S NM_006325 NP_006316 P62826 RAN_HUMAN ras-related nuclear protein 94 androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle cytosol|melanosome|nuclear pore|nucleoplasm androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06) OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40) ATGTAACATCGAGAGTTACTT 0.408 4 40 --- --- --- --- PASS ZNF10 7556 broad.mit.edu 37 12 133733275 133733275 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr12:133733275G>A uc009zzb.2 + 5 1890 c.1443G>A c.(1441-1443)AGG>AGA p.R481R ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Silent_p.R481R NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 481 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TGCATCAGAGGATACACACTG 0.428 9 27 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23912516 23912516 + Silent SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr13:23912516G>T uc001uon.2 - 10 6088 c.5499C>A c.(5497-5499)TCC>TCA p.S1833S SACS_uc001uoo.2_Silent_p.S1686S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1833 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TCTCACTCAGGGAAAACTTCA 0.478 6 56 --- --- --- --- PASS MTMR6 9107 broad.mit.edu 37 13 25835837 25835837 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr13:25835837C>G uc001uqf.3 - 6 1014 c.695G>C c.(694-696)CGC>CCC p.R232P MTMR6_uc001uqe.1_Missense_Mutation_p.R232P NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 232 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2)|skin(2) 4 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) GTACATATAGCGATTGACTGG 0.383 13 29 --- --- --- --- PASS FLT1 2321 broad.mit.edu 37 13 28893635 28893635 + Missense_Mutation SNP T A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr13:28893635T>A uc001usb.3 - 24 3496 c.3211A>T c.(3211-3213)ATC>TTC p.I1071F FLT1_uc010aap.2_Missense_Mutation_p.I76F|FLT1_uc010aaq.2_Missense_Mutation_p.I196F|FLT1_uc001usa.3_Missense_Mutation_p.I289F NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 1071 Cytoplasmic (Potential).|Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TTGTCAAAGATAGATTCAGGA 0.468 10 34 --- --- --- --- PASS NHLRC3 387921 broad.mit.edu 37 13 39621263 39621263 + Silent SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr13:39621263C>T uc001uxc.2 + 6 1087 c.765C>T c.(763-765)TTC>TTT p.F255F NHLRC3_uc001uxd.2_Silent_p.F188F|NHLRC3_uc001uxe.2_Silent_p.F58F NM_001012754 NP_001012772 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 isoform a 255 extracellular region skin(1) 1 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) ATAATTGTTTCACAGAAGAGG 0.393 23 44 --- --- --- --- PASS LCP1 3936 broad.mit.edu 37 13 46730703 46730703 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr13:46730703C>A uc001vaz.3 - 5 487 c.361G>T c.(361-363)GAA>TAA p.E121* LCP1_uc001vba.3_Nonsense_Mutation_p.E121* NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 121 Actin-binding 1.|CH 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TACTTTTCTTCCTCTGCAAGT 0.373 T BCL6 NHL 28 92 --- --- --- --- PASS SUCLA2 8803 broad.mit.edu 37 13 48563071 48563071 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr13:48563071C>G uc001vbs.2 - 3 374 c.317G>C c.(316-318)AGA>ACA p.R106T SUCLA2_uc010tgb.1_Missense_Mutation_p.R46T|SUCLA2_uc010tgc.1_5'UTR|SUCLA2_uc010tgd.1_Missense_Mutation_p.R46T|SUCLA2_uc001vbt.1_RNA|SUCLA2_uc001vbu.1_Missense_Mutation_p.R106T NM_003850 NP_003841 Q9P2R7 SUCB1_HUMAN succinate-CoA ligase, ADP-forming, beta subunit 106 ATP-grasp. succinyl-CoA pathway|tricarboxylic acid cycle mitochondrial matrix ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity central_nervous_system(1) 1 all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;2.1e-06) Succinic acid(DB00139) TCCTTTTCCTCTACCACCAGC 0.373 40 81 --- --- --- --- PASS CAB39L 81617 broad.mit.edu 37 13 49885033 49885033 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr13:49885033C>G uc001vcw.2 - 9 1429 c.931G>C c.(931-933)GAA>CAA p.E311Q CAB39L_uc001vcx.2_Missense_Mutation_p.E311Q|CAB39L_uc010adf.2_Missense_Mutation_p.E308Q NM_030925 NP_112187 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 311 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding 0 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) TCCGTCCTTTCTTTTTGGAAG 0.473 47 125 --- --- --- --- PASS SOX1 6656 broad.mit.edu 37 13 112722129 112722129 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr13:112722129C>T uc001vsb.1 + 1 217 c.157C>T c.(157-159)CGG>TGG p.R53W NM_005986 NP_005977 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 53 HMG box. chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) CCGGGTCAAACGGCCCATGAA 0.517 6 7 --- --- --- --- PASS OR11H12 440153 broad.mit.edu 37 14 19377713 19377713 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:19377713C>A uc010tkp.1 + 1 120 c.120C>A c.(118-120)ATC>ATA p.I40I NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 40 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CAATTCAGATCTTCCTCTTCT 0.428 17 15 --- --- --- --- PASS CHD8 57680 broad.mit.edu 37 14 21884067 21884067 + Splice_Site SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:21884067C>T uc001was.1 - 6 974 c.880_splice c.e6-1 p.K294_splice CHD8_uc001war.1_Splice_Site_p.K190_splice NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AGCGTCTCTTCTGTAGAGCAA 0.368 21 76 --- --- --- --- PASS PRKD1 5587 broad.mit.edu 37 14 30105671 30105671 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:30105671C>T uc001wqh.2 - 7 1196 c.1015G>A c.(1015-1017)GTG>ATG p.V339M NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 339 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TCCATGACCACATCAGACTCT 0.458 5 26 --- --- --- --- PASS FANCM 57697 broad.mit.edu 37 14 45658053 45658053 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:45658053G>A uc001wwd.3 + 20 4927 c.4828G>A c.(4828-4830)GAA>AAA p.E1610K FANCM_uc010anf.2_Missense_Mutation_p.E1584K|FANCM_uc001wwe.3_Missense_Mutation_p.E1146K|FANCM_uc010ang.2_Missense_Mutation_p.E824K NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1610 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 TTGTGTTGATGAAGAGGAGTC 0.294 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 7 23 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47389363 47389363 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:47389363C>A uc001wwj.3 - 10 2079 c.1883G>T c.(1882-1884)GGA>GTA p.G628V MDGA2_uc001wwi.3_Missense_Mutation_p.G399V|MDGA2_uc010ani.2_Missense_Mutation_p.G188V NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 628 spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 ATAGGCCTTTCCTGAAAACAG 0.358 8 43 --- --- --- --- PASS ACTR10 55860 broad.mit.edu 37 14 58678108 58678108 + Silent SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:58678108G>T uc001xdf.2 + 5 544 c.441G>T c.(439-441)CTG>CTT p.L147L C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_5'UTR|ACTR10_uc001xdh.2_5'UTR|ACTR10_uc010trp.1_5'Flank|ACTR10_uc010apc.2_5'Flank NM_018477 NP_060947 Q9NZ32 ARP10_HUMAN uncharacterized hypothalamus protein HARP11 147 cytoplasm central_nervous_system(1) 1 GGGAAAGCCTGGTGTTACCCA 0.383 6 95 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64491954 64491954 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:64491954C>A uc001xgm.2 + 41 6297 c.6067C>A c.(6067-6069)CAG>AAG p.Q2023K SYNE2_uc001xgl.2_Missense_Mutation_p.Q2023K NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2023 Potential.|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) GGATAGATACCAGACATTACT 0.373 6 41 --- --- --- --- PASS C14orf50 145376 broad.mit.edu 37 14 65056048 65056048 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:65056048C>A uc001xhl.1 + 12 1357 c.1261C>A c.(1261-1263)CCT>ACT p.P421T C14orf50_uc001xhm.1_Missense_Mutation_p.P151T NM_172365 NP_758953 Q96LQ0 CN050_HUMAN hypothetical protein LOC145376 421 skin(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488) TACATCATGCCCTAAGTAACC 0.333 16 41 --- --- --- --- PASS C14orf45 80127 broad.mit.edu 37 14 74516689 74516689 + Silent SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:74516689G>T uc010tup.1 + 8 1200 c.1077G>T c.(1075-1077)GTG>GTT p.V359V C14orf45_uc001xpm.1_RNA NM_025057 NP_079333 Q8ND07 CN045_HUMAN hypothetical protein LOC80127 359 Potential. 0 BRCA - Breast invasive adenocarcinoma(234;0.00351) GAACAGAAGTGGAAAGATTCT 0.403 6 53 --- --- --- --- PASS ATXN3 4287 broad.mit.edu 37 14 92549498 92549498 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:92549498C>A uc001yac.3 - 7 649 c.580G>T c.(580-582)GAA>TAA p.E194* ATXN3_uc010aug.2_Nonsense_Mutation_p.E179*|ATXN3_uc001yad.3_Nonsense_Mutation_p.E139*|ATXN3_uc010auh.2_Nonsense_Mutation_p.E128*|ATXN3_uc001yae.3_Nonsense_Mutation_p.E96*|ATXN3_uc010twl.1_RNA NM_004993 NP_004984 P54252 ATX3_HUMAN ataxin 3 reference isoform 194 cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) GCTAATTCTTCTCCAATAAGT 0.373 22 64 --- --- --- --- PASS WDR25 79446 broad.mit.edu 37 14 100847918 100847918 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:100847918G>T uc010avx.2 + 2 750 c.657G>T c.(655-657)GAG>GAT p.E219D WDR25_uc001yhm.2_Missense_Mutation_p.E211D|WDR25_uc001yhn.2_Missense_Mutation_p.E219D|WDR25_uc010avy.2_RNA|WDR25_uc001yho.2_5'Flank NM_001161476 NP_001154948 Q64LD2 WDR25_HUMAN WD repeat domain 25 219 0 Melanoma(154;0.212) GAGTGTCTGAGTTTATTCAGC 0.562 11 11 --- --- --- --- PASS MIR495 574453 broad.mit.edu 37 14 101500125 101500125 + RNA SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:101500125C>T hsa-mir-495|MI0003135 + c.34C>T 0 ATGTTATTTTCGCTTTATATG 0.522 8 45 --- --- --- --- PASS PPP2R5C 5527 broad.mit.edu 37 14 102276371 102276371 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:102276371G>A uc001yko.2 + 1 232 c.92G>A c.(91-93)CGA>CAA p.R31Q PPP2R5C_uc001ykj.3_Intron|PPP2R5C_uc010txr.1_Intron|PPP2R5C_uc001ykk.2_Intron|PPP2R5C_uc010txt.1_Missense_Mutation_p.R21Q|PPP2R5C_uc001ykn.2_Missense_Mutation_p.R31Q|PPP2R5C_uc001ykp.2_Missense_Mutation_p.R31Q|PPP2R5C_uc010txs.1_Missense_Mutation_p.R21Q NM_002719 NP_002710 Q13362 2A5G_HUMAN gamma isoform of regulatory subunit B56, protein 31 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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity ovary(1)|breast(1) 2 CTCCATATTCGAGGTAAGTTA 0.468 8 26 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102467534 102467534 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:102467534G>T uc001yks.2 + 20 4402 c.4238G>T c.(4237-4239)TGG>TTG p.W1413L NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 1413 Stem (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 GACCGCCATTGGAAACAGCTC 0.423 16 581 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102493548 102493548 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:102493548G>T uc001yks.2 + 45 8973 c.8809G>T c.(8809-8811)GGT>TGT p.G2937C NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2937 AAA 4 (By similarity).|ATP (Potential). 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 GCTTCTGATTGGTGTTAGTGG 0.463 10 351 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102515002 102515002 + Silent SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:102515002G>T uc001yks.2 + 74 13532 c.13368G>T c.(13366-13368)GTG>GTT p.V4456V NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 4456 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 ACGAGCTAGTGAAAGGTGCGT 0.607 14 39 --- --- --- --- PASS ZNF839 55778 broad.mit.edu 37 14 102800977 102800977 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:102800977G>A uc001ylo.2 + 4 1505 c.1155G>A c.(1153-1155)CTG>CTA p.L385L ZNF839_uc010awk.1_Silent_p.L501L|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Silent_p.L385L|ZNF839_uc001ylr.2_Silent_p.L310L|ZNF839_uc001yls.2_5'UTR|ZNF839_uc001ylt.2_5'Flank NM_018335 NP_060805 A8K0R7 ZN839_HUMAN zinc finger protein 839 385 intracellular zinc ion binding ovary(1)|central_nervous_system(1) 2 AGTTTCTTCTGATGAAGGTGA 0.398 13 27 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105410132 105410132 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:105410132G>T uc010axc.1 - 7 11776 c.11656C>A c.(11656-11658)CTG>ATG p.L3886M AHNAK2_uc001ypx.2_Missense_Mutation_p.L3786M NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3886 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACCTTGGGCAGGTGTCCTTTG 0.587 9 338 --- --- --- --- PASS GPR132 29933 broad.mit.edu 37 14 105517538 105517538 + Silent SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:105517538C>T uc001yqd.2 - 4 1835 c.936G>A c.(934-936)ACG>ACA p.T312T GPR132_uc001yqc.2_Silent_p.T124T|GPR132_uc001yqe.2_Silent_p.T303T NM_013345 NP_037477 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 312 Cytoplasmic (Potential). response to stress integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) GGGAATGGTCCGTGGCCAGCA 0.582 12 26 --- --- --- --- PASS MTA1 9112 broad.mit.edu 37 14 105927231 105927231 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr14:105927231C>A uc001yqx.2 + 10 1070 c.883C>A c.(883-885)CTT>ATT p.L295I MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Missense_Mutation_p.L209I|MTA1_uc001yra.1_Missense_Mutation_p.L209I|MTA1_uc001yrb.2_Missense_Mutation_p.L56I NM_004689 NP_004680 Q13330 MTA1_HUMAN metastasis associated protein 295 SANT. signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1) 2 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) AGAGGCCAACCTTTTCGAGGA 0.587 7 115 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24923588 24923588 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr15:24923588G>A uc001ywo.2 + 1 3048 c.2574G>A c.(2572-2574)GGG>GGA p.G858G NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 858 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CTGGTTCTGGGAACACACTAC 0.493 18 49 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33833011 33833011 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr15:33833011G>T uc001zhi.2 + 7 636 c.566G>T c.(565-567)GGT>GTT p.G189V RYR3_uc010bar.2_Missense_Mutation_p.G189V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 189 MIR 2.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GTATCAAATGGTAACATACAA 0.428 11 23 --- --- --- --- PASS PGBD4 161779 broad.mit.edu 37 15 34396159 34396159 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr15:34396159C>A uc001zho.2 + 1 1886 c.1427C>A c.(1426-1428)CCT>CAT p.P476H C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank NM_152595 NP_689808 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 476 0 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) AAGGATAATCCTGAGCACACG 0.433 5 52 --- --- --- --- PASS SLC12A1 6557 broad.mit.edu 37 15 48539204 48539204 + Missense_Mutation SNP A T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr15:48539204A>T uc001zwn.3 + 12 1767 c.1551A>T c.(1549-1551)AAA>AAT p.K517N SLC12A1_uc010uew.1_Missense_Mutation_p.K323N|SLC12A1_uc010bem.2_Missense_Mutation_p.K517N|SLC12A1_uc001zwq.3_Missense_Mutation_p.K288N|SLC12A1_uc001zwr.3_Missense_Mutation_p.K244N NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 517 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GCGCACCCAAAGTGTTCCAGG 0.498 29 87 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48782117 48782117 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr15:48782117C>A uc001zwx.1 - 25 3341 c.3013G>T c.(3013-3015)GAG>TAG p.E1005* NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1005 TB 5. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CACAGCTCCTCGTACTCAGGA 0.537 4 54 --- --- --- --- PASS C15orf33 196951 broad.mit.edu 37 15 49867260 49867260 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr15:49867260G>A uc001zxl.2 - 8 887 c.593C>T c.(592-594)TCC>TTC p.S198F C15orf33_uc001zxm.2_Missense_Mutation_p.S198F NM_152647 NP_689860 Q96M60 CO033_HUMAN hypothetical protein LOC196951 198 ovary(1) 1 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) AAGAGCAATGGAGGCTTCTGA 0.303 10 15 --- --- --- --- PASS HERC1 8925 broad.mit.edu 37 15 63932475 63932475 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr15:63932475C>A uc002amp.2 - 61 11925 c.11777G>T c.(11776-11778)TGG>TTG p.W3926L NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 3926 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 ACATTCTAACCAGGCCCATTC 0.498 20 45 --- --- --- --- PASS SNX1 6642 broad.mit.edu 37 15 64418374 64418374 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr15:64418374C>G uc002amv.2 + 6 643 c.607C>G c.(607-609)CAG>GAG p.Q203E SNX1_uc010bgv.2_5'UTR|SNX1_uc010uio.1_Missense_Mutation_p.Q203E|SNX1_uc002amw.2_Missense_Mutation_p.Q203E|SNX1_uc002amx.2_Missense_Mutation_p.Q138E|SNX1_uc002amy.2_Missense_Mutation_p.Q132E|SNX1_uc010bgw.2_Missense_Mutation_p.Q105E NM_003099 NP_003090 Q13596 SNX1_HUMAN sorting nexin 1 isoform a 203 PX. cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport early endosome membrane|Golgi apparatus phosphatidylinositol binding|protein binding|protein transporter activity 0 GAAGCACTCTCAGAATGGCTT 0.443 13 43 --- --- --- --- PASS ISL2 64843 broad.mit.edu 37 15 76629258 76629258 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr15:76629258G>T uc002bbw.1 + 1 112 c.34G>T c.(34-36)GGT>TGT p.G12C NM_145805 NP_665804 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 12 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TCCTTTTCTGGGTGCTATGGG 0.468 9 348 --- --- --- --- PASS IDH3A 3419 broad.mit.edu 37 15 78454050 78454050 + Missense_Mutation SNP T G G rs61752770 byFrequency TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr15:78454050T>G uc002bdd.2 + 5 444 c.417T>G c.(415-417)GAT>GAG p.D139E IDH3A_uc010umt.1_Missense_Mutation_p.D104E|IDH3A_uc010umu.1_Missense_Mutation_p.D30E|IDH3A_uc002bde.2_Missense_Mutation_p.D89E|IDH3A_uc010umv.1_Missense_Mutation_p.D89E|IDH3A_uc002bdf.2_5'UTR|IDH3A_uc002bdg.2_Missense_Mutation_p.D52E NM_005530 NP_005521 P50213 IDH3A_HUMAN isocitrate dehydrogenase 3 (NAD+) alpha 139 carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding 0 NADH(DB00157) CTTACACCGATGTAAATATTG 0.418 41 149 --- --- --- --- PASS TMC3 342125 broad.mit.edu 37 15 81654635 81654635 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr15:81654635C>T uc002bgo.1 - 4 320 c.320G>A c.(319-321)CGG>CAG p.R107Q TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.R107Q NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 107 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 AGCAAATTTCCGCCAGAGCTA 0.468 18 22 --- --- --- --- PASS ALPK3 57538 broad.mit.edu 37 15 85405880 85405880 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr15:85405880G>A uc002ble.2 + 10 4917 c.4750G>A c.(4750-4752)GAG>AAG p.E1584K ALPK3_uc010upc.1_5'Flank NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1584 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGAAGAGATTGAGATGACCCC 0.572 30 47 --- --- --- --- PASS WDR93 56964 broad.mit.edu 37 15 90260146 90260146 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr15:90260146C>T uc002boj.2 + 7 862 c.761C>T c.(760-762)TCC>TTC p.S254F WDR93_uc010bnr.2_Missense_Mutation_p.S254F NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN WD repeat domain 93 254 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH ovary(2) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TCTCAGAACTCCCTTGGTCCC 0.338 9 58 --- --- --- --- PASS C15orf51 196968 broad.mit.edu 37 15 100331935 100331935 + RNA SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr15:100331935G>A uc010urx.1 - 5 c.2257C>T C15orf51_uc010ury.1_RNA NR_003260 Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288. 0 CCTGCCTTCTGATTTCTCTGG 0.572 7 33 --- --- --- --- PASS PCSK6 5046 broad.mit.edu 37 15 101970216 101970216 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr15:101970216C>T uc002bwy.2 - 6 1024 c.710G>A c.(709-711)CGA>CAA p.R237Q PCSK6_uc010bpd.2_Missense_Mutation_p.R107Q|PCSK6_uc010bpe.2_Missense_Mutation_p.R237Q|PCSK6_uc002bxa.2_Missense_Mutation_p.R237Q|PCSK6_uc002bxb.2_Missense_Mutation_p.R237Q|PCSK6_uc002bxc.1_Missense_Mutation_p.R237Q|PCSK6_uc002bxd.1_Missense_Mutation_p.R237Q|PCSK6_uc002bxe.2_Missense_Mutation_p.R237Q|PCSK6_uc002bxg.1_Missense_Mutation_p.R237Q NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 237 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GGCATCATATCGTGGAGATGG 0.507 11 77 --- --- --- --- PASS CHTF18 63922 broad.mit.edu 37 16 847697 847697 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:847697G>C uc002cke.3 + 21 2800 c.2737G>C c.(2737-2739)GAG>CAG p.E913Q CHTF18_uc002ckf.3_Missense_Mutation_p.E941Q|CHTF18_uc010brf.2_Missense_Mutation_p.E495Q|CHTF18_uc002ckg.3_Missense_Mutation_p.E431Q NM_022092 NP_071375 Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 913 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity kidney(1) 1 Hepatocellular(780;0.00335) CCATCAGCCTGAGAAGGACTT 0.612 15 39 --- --- --- --- PASS SRRM2 23524 broad.mit.edu 37 16 2815495 2815495 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:2815495G>T uc002crk.2 + 11 5515 c.4966G>T c.(4966-4968)GAG>TAG p.E1656* SRRM2_uc002crj.1_Nonsense_Mutation_p.E1560*|SRRM2_uc002crl.1_Nonsense_Mutation_p.E1656*|SRRM2_uc010bsu.1_Nonsense_Mutation_p.E1560* NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 1656 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CAGCAGTACCGAGTCCTCTCC 0.572 4 35 --- --- --- --- PASS ZNF263 10127 broad.mit.edu 37 16 3339825 3339825 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:3339825G>T uc002cuq.2 + 6 1651 c.1319G>T c.(1318-1320)GGG>GTG p.G440V ZNF263_uc010uww.1_Missense_Mutation_p.G88V|ZNF263_uc002cur.2_Missense_Mutation_p.G88V NM_005741 NP_005732 O14978 ZN263_HUMAN zinc finger protein 263 440 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(3)|ovary(1) 4 CTTGAATGTGGGAAATGCTTC 0.532 7 69 --- --- --- --- PASS BTBD12 84464 broad.mit.edu 37 16 3633448 3633448 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:3633448G>T uc002cvp.2 - 14 5430 c.4803C>A c.(4801-4803)TAC>TAA p.Y1601* NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 1601 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 TCTGGTGAGTGTACTGGAATA 0.597 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 5 126 --- --- --- --- PASS C16orf68 79091 broad.mit.edu 37 16 8722882 8722882 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:8722882G>T uc002cyz.2 + 3 705 c.429G>T c.(427-429)AAG>AAT p.K143N C16orf68_uc002cza.2_Intron NM_024109 NP_077014 Q9BUU2 MET22_HUMAN hypothetical protein LOC79091 143 methyltransferase activity 0 TGAGAGACAAGGTACATCCCA 0.537 8 220 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9857084 9857084 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:9857084G>T uc002czo.3 - 13 4865 c.4317C>A c.(4315-4317)TAC>TAA p.Y1439* GRIN2A_uc010uym.1_Nonsense_Mutation_p.Y1439*|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1439 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGGGGGTAGAGTACATATTAT 0.403 11 32 --- --- --- --- PASS XYLT1 64131 broad.mit.edu 37 16 17292262 17292262 + Missense_Mutation SNP A C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:17292262A>C uc002dfa.2 - 5 1181 c.1096T>G c.(1096-1098)TAC>GAC p.Y366D NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 366 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 CGATGCAGGTAATTAGAGCGC 0.587 10 28 --- --- --- --- PASS TMC5 79838 broad.mit.edu 37 16 19475265 19475265 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:19475265C>G uc002dgc.3 + 8 2153 c.1404C>G c.(1402-1404)TTC>TTG p.F468L TMC5_uc010vaq.1_Missense_Mutation_p.F468L|TMC5_uc002dgb.3_Missense_Mutation_p.F468L|TMC5_uc010var.1_Missense_Mutation_p.F468L|TMC5_uc002dgd.1_Missense_Mutation_p.F222L|TMC5_uc002dge.3_Missense_Mutation_p.F222L|TMC5_uc002dgf.3_Missense_Mutation_p.F151L|TMC5_uc002dgg.3_Missense_Mutation_p.F109L NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 468 Helical; (Potential). integral to membrane skin(1) 1 TCCTGAACTTCAGCTTCATCA 0.458 16 37 --- --- --- --- PASS ACSM2B 348158 broad.mit.edu 37 16 20548587 20548587 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:20548587G>A uc002dhj.3 - 15 1937 c.1727C>T c.(1726-1728)GCG>GTG p.A576V ACSM2B_uc002dhk.3_Missense_Mutation_p.A576V NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 576 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 GCCTCACTGCGCACGGGCTTT 0.463 36 86 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 21151983 21151983 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:21151983C>A uc010vbe.1 - 5 570 c.570G>T c.(568-570)GAG>GAT p.E190D DNAH3_uc002die.2_Missense_Mutation_p.E161D NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 190 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) ATGTCTTTACCTCCTTCTTCA 0.468 6 72 --- --- --- --- PASS DCTN5 84516 broad.mit.edu 37 16 23677023 23677023 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:23677023C>A uc002dly.1 + 5 482 c.425C>A c.(424-426)CCA>CAA p.P142Q NM_032486 NP_115875 Q9BTE1 DCTN5_HUMAN dynactin 5 142 centrosome transferase activity upper_aerodigestive_tract(1) 1 GBM - Glioblastoma multiforme(48;0.0156) GTGGTTCCACCATTCACTGTC 0.393 5 34 --- --- --- --- PASS PLK1 5347 broad.mit.edu 37 16 23701356 23701356 + Missense_Mutation SNP C T T rs34001032 byFrequency TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:23701356C>T uc002dlz.1 + 10 1837 c.1784C>T c.(1783-1785)TCG>TTG p.S595L NM_005030 NP_005021 P53350 PLK1_HUMAN polo-like kinase 1 595 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding lung(1)|skin(1) 2 GBM - Glioblastoma multiforme(48;0.0156) AGCTCACGCTCGGCCAGCAAC 0.652 5 19 --- --- --- --- PASS CD19 930 broad.mit.edu 37 16 28943342 28943342 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:28943342C>A uc002drs.2 + 1 83 c.21C>A c.(19-21)CTC>CTA p.L7L uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.L7L NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 7 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 CTCGCCTCCTCTTCTTCCTCC 0.557 6 80 --- --- --- --- PASS ITGAD 3681 broad.mit.edu 37 16 31425870 31425870 + Silent SNP C A A rs149370240 by1000genomes TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:31425870C>A uc002ebv.1 + 17 2144 c.2095C>A c.(2095-2097)CGA>AGA p.R699R ITGAD_uc010cap.1_Silent_p.R700R NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 699 Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 CACTTTGACTCGAAGAAAAAC 0.522 8 366 --- --- --- --- PASS ABCC11 85320 broad.mit.edu 37 16 48212568 48212568 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:48212568C>A uc002eff.1 - 23 3638 c.3288G>T c.(3286-3288)CGG>CGT p.R1096R ABCC11_uc002efg.1_Silent_p.R1096R|ABCC11_uc002efh.1_Silent_p.R1096R|ABCC11_uc010cbg.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 1096 Cytoplasmic (Potential).|ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CCAAGCCAATCCGGGCAGTGG 0.582 Cerumen_Type 10 22 --- --- --- --- PASS NOD2 64127 broad.mit.edu 37 16 50759418 50759418 + Silent SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:50759418C>G uc002egm.1 + 10 3006 c.2901C>G c.(2899-2901)CTC>CTG p.L967L NOD2_uc010vgq.1_Silent_p.L12L NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 967 LRR 7. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) AGAACCATCTCCAGGATGAAG 0.413 22 39 --- --- --- --- PASS SLC6A2 6530 broad.mit.edu 37 16 55719166 55719166 + Silent SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:55719166C>G uc002eif.2 + 5 867 c.756C>G c.(754-756)CTC>CTG p.L252L SLC6A2_uc010ccd.2_Silent_p.L252L|SLC6A2_uc002eig.2_Silent_p.L252L|SLC6A2_uc002eih.2_Silent_p.L252L|SLC6A2_uc002eii.2_Silent_p.L147L|SLC6A2_uc002eij.2_Silent_p.L11L NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 252 Helical; Name=4; (Potential). synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) ATTTTAGCCTCTGGAAAGGGG 0.483 19 67 --- --- --- --- PASS SLC6A2 6530 broad.mit.edu 37 16 55731808 55731808 + Splice_Site SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:55731808G>T uc002eif.2 + 10 1372 c.1261_splice c.e10-1 p.M421_splice SLC6A2_uc010ccd.2_Splice_Site_p.M421_splice|SLC6A2_uc002eig.2_Splice_Site_p.M421_splice|SLC6A2_uc002eih.2_Splice_Site_p.M421_splice|SLC6A2_uc002eii.2_Splice_Site_p.M316_splice|SLC6A2_uc002eij.2_Splice_Site_p.M135_splice NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) GTTCCCTCCAGATGGGAGGCA 0.597 7 19 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61858997 61858997 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:61858997G>A uc002eog.1 - 5 1006 c.754C>T c.(754-756)CAC>TAC p.H252Y CDH8_uc002eoh.2_Missense_Mutation_p.H21Y NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 252 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CCACCAGAGTGTCCACCCATA 0.453 13 13 --- --- --- --- PASS TMCO7 79613 broad.mit.edu 37 16 68893908 68893908 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:68893908C>A uc002ewi.3 + 2 228 c.216C>A c.(214-216)CTC>CTA p.L72L TMCO7_uc002ewh.2_Silent_p.L72L NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 72 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) ATCTGAAACTCCTAAGAGATG 0.408 5 48 --- --- --- --- PASS ZNF23 7571 broad.mit.edu 37 16 71483756 71483756 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:71483756C>A uc002faf.2 - 6 986 c.172G>T c.(172-174)GAA>TAA p.E58* ZNF23_uc002fad.2_5'UTR|ZNF23_uc002fae.2_5'UTR|ZNF23_uc010vmf.1_5'UTR|ZNF23_uc002fag.2_5'UTR|ZNF23_uc002fah.2_Nonsense_Mutation_p.E58*|ZNF23_uc002fai.2_Nonsense_Mutation_p.E97* NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 58 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) TCATACATTTCCTTTGTCAAA 0.333 11 17 --- --- --- --- PASS ZFHX3 463 broad.mit.edu 37 16 72845851 72845851 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:72845851G>C uc002fck.2 - 6 4289 c.3616C>G c.(3616-3618)CTC>GTC p.L1206V ZFHX3_uc002fcl.2_Missense_Mutation_p.L292V NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 1206 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) TTCGAAGAGAGGGGAGACTCT 0.532 48 137 --- --- --- --- PASS CMIP 80790 broad.mit.edu 37 16 81641237 81641237 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr16:81641237G>T uc002fgp.2 + 2 438 c.366G>T c.(364-366)TGG>TGT p.W122C CMIP_uc002fgq.1_Missense_Mutation_p.W28C|CMIP_uc010vnq.1_5'Flank NM_198390 NP_938204 Q8IY22 CMIP_HUMAN c-Maf-inducing protein isoform C-mip 88 PH. cytoplasm|nucleus 0 TGCTGTCCTGGGAGAATGCCC 0.458 10 122 --- --- --- --- PASS VPS53 55275 broad.mit.edu 37 17 613825 613825 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:613825C>A uc002frn.2 - 2 263 c.116G>T c.(115-117)CGA>CTA p.R39L VPS53_uc010cjo.1_Missense_Mutation_p.R39L|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.R39L|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Missense_Mutation_p.R39L NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 39 protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) GAAATCTGCTCGATCTAGAGG 0.328 4 48 --- --- --- --- PASS SMYD4 114826 broad.mit.edu 37 17 1703966 1703966 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:1703966G>T uc002ftm.3 - 5 890 c.722C>A c.(721-723)CCT>CAT p.P241H SMYD4_uc002ftn.1_Missense_Mutation_p.P96H NM_052928 NP_443160 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 241 zinc ion binding skin(3)|kidney(2) 5 ACCTTTTAAAGGATCTACGCA 0.507 6 81 --- --- --- --- PASS GABARAP 11337 broad.mit.edu 37 17 7144663 7144663 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:7144663G>T uc002gfb.2 - 3 390 c.286C>A c.(286-288)CAG>AAG p.Q96K PHF23_uc002gfa.2_5'Flank|PHF23_uc010vtt.1_5'Flank|PHF23_uc010cma.2_5'Flank NM_007278 NP_009209 O95166 GBRAP_HUMAN GABA(A) receptor-associated protein 96 Interaction with GPHN (By similarity). protein targeting|synaptic transmission autophagic vacuole membrane|Golgi membrane|microtubule|plasma membrane beta-tubulin binding|GABA receptor binding 0 CACCATACCTGGTACAGCTGA 0.488 10 339 --- --- --- --- PASS EIF4A1 1973 broad.mit.edu 37 17 7481668 7481668 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:7481668G>T uc002gho.1 + 19 2410 c.1085G>T c.(1084-1086)CGA>CTA p.R362L EIF4A1_uc002ghr.1_Silent_p.S341S|EIF4A1_uc002ghq.1_Silent_p.S335S|EIF4A1_uc002ghp.1_Missense_Mutation_p.R362L|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank NM_001416 NP_001407 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A 362 Helicase C-terminal. nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity ovary(1) 1 AGAATCGGTCGAGGTGGACGG 0.507 4 58 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7579494 7579494 + Nonsense_Mutation SNP T A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:7579494T>A uc002gim.2 - 4 387 c.193A>T c.(193-195)AGA>TGA p.R65* TP53_uc002gig.1_Nonsense_Mutation_p.R65*|TP53_uc002gih.2_Nonsense_Mutation_p.R65*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.R65*|TP53_uc010cni.1_Nonsense_Mutation_p.R65*|TP53_uc002gij.2_Nonsense_Mutation_p.R65*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.R26*|TP53_uc010cnk.1_Nonsense_Mutation_p.R80* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 65 Interaction with HRMT1L2. R -> T (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R65*(8)|p.0?(7)|p.G59fs*23(3)|p.264_265insSSGNL(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(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) TCTGGCATTCTGGGAGCTTCA 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) 55 75 --- --- --- --- PASS PIK3R6 146850 broad.mit.edu 37 17 8738701 8738701 + Silent SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:8738701C>T uc002glq.1 - 8 774 c.534G>A c.(532-534)GCG>GCA p.A178A PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA NM_001010855 NP_001010855 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 178 platelet activation cytosol 0 GCGCCTGGGCCGCCTCGATCT 0.652 8 17 --- --- --- --- PASS MYH3 4621 broad.mit.edu 37 17 10542913 10542913 + Silent SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:10542913G>T uc002gmq.1 - 22 2966 c.2889C>A c.(2887-2889)GCC>GCA p.A963A NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 963 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TCTCAACCTTGGCCAGGGTCA 0.433 40 78 --- --- --- --- PASS ELAC2 60528 broad.mit.edu 37 17 12897091 12897091 + Silent SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:12897091C>T uc002gnz.3 - 23 2261 c.2166G>A c.(2164-2166)CTG>CTA p.L722L ELAC2_uc002gnu.3_Silent_p.L119L|ELAC2_uc002gnv.3_Silent_p.L350L|ELAC2_uc002gnw.3_Silent_p.L378L|ELAC2_uc002gnx.3_Silent_p.L482L|ELAC2_uc010vvo.1_Silent_p.L520L|ELAC2_uc010vvp.1_Silent_p.L703L|ELAC2_uc010vvq.1_Silent_p.L721L|ELAC2_uc010vvr.1_Silent_p.L682L NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN elaC homolog 2 isoform 1 722 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding 0 TGAAGTGGTTCAGCATAATGA 0.547 Hereditary_Prostate_Cancer 18 24 --- --- --- --- PASS FLCN 201163 broad.mit.edu 37 17 17127237 17127237 + Missense_Mutation SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:17127237T>C uc002gra.3 - 6 1121 c.617A>G c.(616-618)AAG>AGG p.K206R PLD6_uc010cpn.2_Intron|FLCN_uc002grb.3_Missense_Mutation_p.K206R NM_144997 NP_659434 Q8NFG4 FLCN_HUMAN folliculin isoform 1 206 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 3 TGAATTCACCTTGAGCGCCTT 0.622 Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer 8 5 --- --- --- --- PASS SHMT1 6470 broad.mit.edu 37 17 18250933 18250933 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:18250933C>A uc002gta.2 - 5 586 c.396G>T c.(394-396)GTG>GTT p.V132V SHMT1_uc002gtb.2_Silent_p.V132V|SHMT1_uc010cqb.2_Silent_p.V132V|SHMT1_uc010vxt.1_5'UTR|SHMT1_uc002gtd.1_Silent_p.V132V|SHMT1_uc010vxu.1_Silent_p.V132V NM_004169 NP_004160 P34896 GLYC_HUMAN serine hydroxymethyltransferase 1 (soluble) 132 carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process cytosol|nucleus glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1) 1 Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CATGGGGTTCCACCAGGGCAG 0.552 31 22 --- --- --- --- PASS NEK8 284086 broad.mit.edu 37 17 27064326 27064326 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:27064326C>G uc002hcp.2 + 5 621 c.621C>G c.(619-621)AAC>AAG p.N207K NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 207 Protein kinase. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1) 6 Lung NSC(42;0.0158) CTTCACAGAACTTGCCAGCAC 0.547 4 6 --- --- --- --- PASS AMAC1 146861 broad.mit.edu 37 17 33520358 33520358 + Silent SNP A G G rs74740601 by1000genomes TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:33520358A>G uc002hjd.2 - 1 1055 c.969T>C c.(967-969)ATT>ATC p.I323I NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 323 DUF6 2.|Helical; (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) TCTGGGCTGTAATGATGGCAA 0.547 3 72 --- --- --- --- PASS SRCIN1 80725 broad.mit.edu 37 17 36734771 36734771 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:36734771C>A uc002hqd.2 - 2 521 c.296G>T c.(295-297)CGA>CTA p.R99L SRCIN1_uc002hqh.1_Missense_Mutation_p.R133L NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN SNAP25-interacting protein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding 0 CTGCTGGCCTCGCAGGGCCAG 0.706 11 11 --- --- --- --- PASS KPNB1 3837 broad.mit.edu 37 17 45755688 45755688 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:45755688G>T uc002ilt.1 + 19 2598 c.2262G>T c.(2260-2262)ATG>ATT p.M754I KPNB1_uc010wkw.1_Missense_Mutation_p.M609I|KPNB1_uc010wkx.1_Missense_Mutation_p.M538I NM_002265 NP_002256 Q14974 IMB1_HUMAN karyopherin beta 1 754 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 ACTATGACATGGTGGATTATC 0.438 6 54 --- --- --- --- PASS COL1A1 1277 broad.mit.edu 37 17 48278790 48278790 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:48278790C>T uc002iqm.2 - 1 211 c.85G>A c.(85-87)GAG>AAG p.E29K NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 29 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) TCTTGGCCCTCGACTTGGCCT 0.587 T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 8 22 --- --- --- --- PASS CA10 56934 broad.mit.edu 37 17 50008392 50008392 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:50008392G>T uc002itw.3 - 3 1223 c.237C>A c.(235-237)GAC>GAA p.D79E CA10_uc002itv.3_Missense_Mutation_p.D85E|CA10_uc002itx.3_Missense_Mutation_p.D79E|CA10_uc002ity.3_Missense_Mutation_p.D79E|CA10_uc002itz.2_Missense_Mutation_p.D79E NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 79 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TCAGAAAGGGGTCGAAGATCA 0.498 32 72 --- --- --- --- PASS HLF 3131 broad.mit.edu 37 17 53392768 53392768 + Missense_Mutation SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:53392768T>C uc002iug.1 + 3 1157 c.632T>C c.(631-633)ATC>ACC p.I211T HLF_uc010dce.1_Missense_Mutation_p.I126T|HLF_uc002iuh.2_Missense_Mutation_p.I126T|HLF_uc010wni.1_Missense_Mutation_p.I158T NM_002126 NP_002117 Q16534 HLF_HUMAN hepatic leukemia factor 211 multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 CAGCCCATGATCAAGAAAGCT 0.493 T TCF3 ALL 4 41 --- --- --- --- PASS APPBP2 10513 broad.mit.edu 37 17 58538126 58538126 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:58538126G>A uc002iys.1 - 9 1247 c.959C>T c.(958-960)TCA>TTA p.S320L APPBP2_uc010ddl.1_Missense_Mutation_p.S249L NM_006380 NP_006371 Q92624 APBP2_HUMAN amyloid beta precursor protein-binding protein 320 TPR 4. intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) ACCAAACACTGACTGTCTAAT 0.358 8 47 --- --- --- --- PASS GPRC5C 55890 broad.mit.edu 37 17 72443069 72443069 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:72443069G>T uc002jks.2 + 3 1267 c.1228G>T c.(1228-1230)GCT>TCT p.A410S GPRC5C_uc002jkp.2_Missense_Mutation_p.A455S|GPRC5C_uc002jkq.2_3'UTR|GPRC5C_uc002jkr.2_Missense_Mutation_p.A422S|GPRC5C_uc002jkt.2_Missense_Mutation_p.A410S|GPRC5C_uc002jku.2_Missense_Mutation_p.A165S NM_018653 NP_061123 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor family C, group 5, 410 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1) 5 GACCCTGCGGGCTGAAGACAT 0.607 8 45 --- --- --- --- PASS GRIN2C 2905 broad.mit.edu 37 17 72840421 72840421 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:72840421G>A uc002jlt.1 - 12 2733 c.2577C>T c.(2575-2577)TTC>TTT p.F859F GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.F859F NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 859 Cytoplasmic (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) CCACCCTGCTGAAAGCCAGCA 0.617 10 40 --- --- --- --- PASS UBE2O 63893 broad.mit.edu 37 17 74394450 74394450 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:74394450C>A uc002jrm.3 - 12 1976 c.1911G>T c.(1909-1911)GAG>GAT p.E637D UBE2O_uc002jrn.3_Missense_Mutation_p.E637D|UBE2O_uc002jrl.3_Missense_Mutation_p.E240D NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 637 ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 TCACATCTTCCTCTTCTCCAA 0.547 OREG0024751 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 420 --- --- --- --- PASS ENGASE 64772 broad.mit.edu 37 17 77077136 77077136 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:77077136G>A uc002jwv.2 + 6 861 c.853G>A c.(853-855)GAA>AAA p.E285K ENGASE_uc002jwu.1_Missense_Mutation_p.E285K|ENGASE_uc010wtz.1_Missense_Mutation_p.E99K|ENGASE_uc002jww.2_5'UTR NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 285 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity skin(1) 1 ATGGCAAGACGAACTCAACCA 0.652 5 11 --- --- --- --- PASS ENPP7 339221 broad.mit.edu 37 17 77707323 77707323 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:77707323C>G uc002jxa.2 + 2 291 c.271C>G c.(271-273)CAC>GAC p.H91D NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 91 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TATCGAGAACCACGGGGTGGT 0.617 33 98 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 17 78282825 78282825 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr17:78282825G>T uc002jyf.2 + 14 2652 c.2509G>T c.(2509-2511)GAG>TAG p.E837* uc002jyg.1_Nonsense_Mutation_p.E568* NM_020954 NP_066005 hypothetical protein LOC57714 CAGGATTCCCGAGGAGGCCTT 0.478 7 94 --- --- --- --- PASS MYOM1 8736 broad.mit.edu 37 18 3129295 3129295 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr18:3129295G>T uc002klp.2 - 18 3063 c.2729C>A c.(2728-2730)CCA>CAA p.P910Q MYOM1_uc002klq.2_Intron NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 910 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 TTTCTGTGGTGGCGGGGTAAG 0.488 OREG0024838 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 91 --- --- --- --- PASS MYOM1 8736 broad.mit.edu 37 18 3187488 3187488 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr18:3187488G>T uc002klp.2 - 5 1253 c.919C>A c.(919-921)CGT>AGT p.R307S MYOM1_uc002klq.2_Missense_Mutation_p.R307S NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 307 Ig-like C2-type 1. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 CACGTGACACGAGGTTCTGGC 0.438 8 247 --- --- --- --- PASS AFG3L2 10939 broad.mit.edu 37 18 12358705 12358705 + Silent SNP T A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr18:12358705T>A uc002kqz.1 - 8 1103 c.990A>T c.(988-990)CCA>CCT p.P330P NM_006796 NP_006787 Q9Y4W6 AFG32_HUMAN AFG3 ATPase family gene 3-like 2 330 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 Adenosine triphosphate(DB00171) GATACTGCTTTGGGTTTTTCA 0.353 6 55 --- --- --- --- PASS PSMA8 143471 broad.mit.edu 37 18 23731821 23731821 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr18:23731821G>T uc002kvq.2 + 3 361 c.247G>T c.(247-249)GGA>TGA p.G83* PSMA8_uc002kvo.2_Splice_Site_p.G39_splice|PSMA8_uc002kvp.2_Splice_Site_p.G77_splice|PSMA8_uc002kvr.2_Splice_Site_p.G51_splice NM_144662 NP_653263 Q8TAA3 PSA7L_HUMAN proteasome alpha 8 subunit isoform 1 83 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity skin(1) 1 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) AATTTTTATAGGACTTACTGC 0.353 7 147 --- --- --- --- PASS CHST9 83539 broad.mit.edu 37 18 24722673 24722673 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr18:24722673C>A uc002kwd.2 - 1 299 c.101G>T c.(100-102)TGG>TTG p.W34L C18orf16_uc010xbm.1_Intron|CHST9_uc002kwe.2_Missense_Mutation_p.W34L NM_031422 NP_113610 Q7L1S5 CHST9_HUMAN GalNAc-4-sulfotransferase 2 34 Lumenal (Potential). carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity ovary(2)|skin(1) 3 all_lung(6;0.0145)|Ovarian(20;0.124) TTCTTCAATCCAGACTTGCAA 0.348 7 120 --- --- --- --- PASS TCEB3C 162699 broad.mit.edu 37 18 44555132 44555132 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr18:44555132G>T uc010xdb.1 - 1 1318 c.1082C>A c.(1081-1083)TCG>TAG p.S361* KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 361 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 TTCAAGAACCGAGTAGGGGAC 0.627 10 453 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56202524 56202524 + Missense_Mutation SNP A G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr18:56202524A>G uc002lhj.3 - 5 5109 c.4895T>C c.(4894-4896)ATA>ACA p.I1632T ALPK2_uc002lhk.1_Missense_Mutation_p.I963T NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1632 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 AAGCACCTCTATTTTAGGTTC 0.448 9 29 --- --- --- --- PASS PHLPP1 23239 broad.mit.edu 37 18 60563036 60563036 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr18:60563036G>T uc002lis.2 + 7 878 c.700G>T c.(700-702)GGA>TGA p.G234* NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 746 LRR 5. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 TTTGTTGGATGGAAACTTTCT 0.328 5 63 --- --- --- --- PASS GALR1 2587 broad.mit.edu 37 18 74962936 74962936 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr18:74962936C>A uc002lms.3 + 1 929 c.432C>A c.(430-432)TCC>TCA p.S144S NM_001480 NP_001471 P47211 GALR1_HUMAN galanin receptor 1 144 Cytoplasmic (Potential). digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity lung(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) GGCGCTCCTCCTCCCTCAGGG 0.667 12 18 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76753968 76753968 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr18:76753968G>A uc002lmt.2 + 2 1977 c.1977G>A c.(1975-1977)TCG>TCA p.S659S SALL3_uc010dra.2_Silent_p.S266S NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 659 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TGCAAACGTCGGAAACCTCGA 0.647 11 11 --- --- --- --- PASS CIRBP 1153 broad.mit.edu 37 19 1271623 1271623 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:1271623C>A uc002lrr.3 + 5 572 c.423C>A c.(421-423)TAC>TAA p.Y141* C19orf23_uc010xgk.1_5'Flank|CIRBP_uc010dsg.1_Nonsense_Mutation_p.Y130*|CIRBP_uc002lrt.2_Nonsense_Mutation_p.Y141*|CIRBP_uc010xgl.1_Nonsense_Mutation_p.Y107*|CIRBP_uc002lrv.3_Nonsense_Mutation_p.Y141*|CIRBP_uc002lru.2_RNA NM_001280 NP_001271 Q14011 CIRBP_HUMAN cold inducible RNA binding protein 141 Gly-rich. mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly nucleoplasm|stress granule mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity 0 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014) 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) CCAGAGACTACTATAGCAGGT 0.642 3 8 --- --- --- --- PASS TJP3 27134 broad.mit.edu 37 19 3738570 3738570 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:3738570C>G uc010xhv.1 + 11 1401 c.1401C>G c.(1399-1401)TTC>TTG p.F467L TJP3_uc010xhs.1_Missense_Mutation_p.F434L|TJP3_uc010xht.1_Missense_Mutation_p.F398L|TJP3_uc010xhu.1_Missense_Mutation_p.F443L|TJP3_uc010xhw.1_Missense_Mutation_p.F453L NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 448 PDZ 3. tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) ACGTGCCATTCCAGAACCTGA 0.577 28 47 --- --- --- --- PASS TJP3 27134 broad.mit.edu 37 19 3738989 3738989 + Silent SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:3738989C>T uc010xhv.1 + 12 1587 c.1587C>T c.(1585-1587)TTC>TTT p.F529F TJP3_uc010xhs.1_Silent_p.F496F|TJP3_uc010xht.1_Silent_p.F460F|TJP3_uc010xhu.1_Silent_p.F505F|TJP3_uc010xhw.1_Silent_p.F515F NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 510 SH3. tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTGGGCTTCACCCGTGGCG 0.662 18 16 --- --- --- --- PASS KIAA1543 57662 broad.mit.edu 37 19 7675643 7675643 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:7675643G>T uc002mgv.3 + 7 1059 c.958G>T c.(958-960)GAC>TAC p.D320Y KIAA1543_uc002mgu.3_Missense_Mutation_p.D347Y NM_020902 NP_065953 Q9P1Y5 CAMP3_HUMAN NEZHA isoform 2 320 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding pancreas(1) 1 GCTCAAGCCCGACTTTGTGCA 0.667 6 87 --- --- --- --- PASS ZNF559 84527 broad.mit.edu 37 19 9449884 9449884 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:9449884G>C uc002mlg.2 + 5 696 c.49G>C c.(49-51)GAG>CAG p.E17Q ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Intron|ZNF559_uc010dwm.1_Missense_Mutation_p.E17Q|ZNF559_uc002mle.3_Missense_Mutation_p.E81Q|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_Missense_Mutation_p.E81Q|ZNF559_uc010dwo.1_Missense_Mutation_p.E45Q|ZNF559_uc002mlh.1_RNA|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron NM_032497 NP_115886 Q9BR84 ZN559_HUMAN zinc finger protein 559 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGTGACCTTTGAGGATGTGGC 0.478 4 59 --- --- --- --- PASS ZSWIM4 65249 broad.mit.edu 37 19 13941475 13941475 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:13941475G>T uc002mxh.1 + 13 2770 c.2581G>T c.(2581-2583)GAG>TAG p.E861* ZSWIM4_uc010xng.1_Nonsense_Mutation_p.E784* NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 861 zinc ion binding central_nervous_system(2) 2 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GGGCCGGCACGAGCTCTCTGC 0.657 5 118 --- --- --- --- PASS RLN3 117579 broad.mit.edu 37 19 14141522 14141522 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:14141522G>T uc002mxw.1 + 2 191 c.191G>T c.(190-192)GGA>GTA p.G64V IL27RA_uc002mxx.2_5'Flank|RLN3_uc010dzj.1_Missense_Mutation_p.E101D NM_080864 NP_543140 Q8WXF3 REL3_HUMAN relaxin 3 preproprotein 64 extracellular region hormone activity 0 TCTTTTGCAGGAGATACCTTC 0.567 6 81 --- --- --- --- PASS BRD4 23476 broad.mit.edu 37 19 15349944 15349944 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:15349944C>A uc002nar.2 - 18 3930 c.3708G>T c.(3706-3708)GAG>GAT p.E1236D NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 1236 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CCTTCTCACGCTCCTCTTTCT 0.662 T NUT|C15orf55 lethal midline carcinoma of young people 5 13 --- --- --- --- PASS TMEM38A 79041 broad.mit.edu 37 19 16791207 16791207 + Splice_Site SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:16791207G>T uc002nes.2 + 3 373 c.282_splice c.e3-1 p.W94_splice NM_024074 NP_076979 Q9H6F2 TM38A_HUMAN transmembrane protein 38A integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|ovary(1) 3 CTCCCCAAAAGGTACTTGATT 0.547 10 330 --- --- --- --- PASS ZNF85 7639 broad.mit.edu 37 19 21132556 21132556 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:21132556C>A uc002npg.3 + 4 1363 c.1236C>A c.(1234-1236)ACC>ACA p.T412T ZNF85_uc010ecn.2_Silent_p.T347T|ZNF85_uc010eco.2_Silent_p.T360T|ZNF85_uc002npi.2_Silent_p.T353T NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 412 C2H2-type 10. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 ACTCTTCAACCCTTACTAAAC 0.308 5 13 --- --- --- --- PASS ZNF43 7594 broad.mit.edu 37 19 21990893 21990893 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:21990893G>C uc002nqj.2 - 4 2076 c.1946C>G c.(1945-1947)CCC>CGC p.P649R ZNF43_uc010ecv.2_Missense_Mutation_p.P643R|ZNF43_uc002nql.2_Missense_Mutation_p.P643R|ZNF43_uc002nqm.2_Missense_Mutation_p.P643R|ZNF43_uc002nqk.2_Missense_Mutation_p.P579R NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 649 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) ACATTTGTAGGGTTTCTCCTC 0.373 4 19 --- --- --- --- PASS ZNF675 171392 broad.mit.edu 37 19 23836935 23836935 + Missense_Mutation SNP T A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:23836935T>A uc002nri.2 - 4 982 c.800A>T c.(799-801)CAG>CTG p.Q267L NM_138330 NP_612203 Q8TD23 ZN675_HUMAN zinc finger protein 675 267 C2H2-type 5. bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(1)|kidney(1) 2 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) GTGTGAGGACTGGTTAAAGGC 0.358 6 28 --- --- --- --- PASS ZNF681 148213 broad.mit.edu 37 19 23927658 23927658 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:23927658C>A uc002nrk.3 - 4 836 c.694G>T c.(694-696)GGC>TGC p.G232C ZNF681_uc002nrl.3_Missense_Mutation_p.G163C|ZNF681_uc002nrj.3_Missense_Mutation_p.G163C NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 232 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CAGGCTTTGCCACATTCTTCA 0.343 5 12 --- --- --- --- PASS KIAA0355 9710 broad.mit.edu 37 19 34818703 34818703 + Nonsense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:34818703G>T uc002nvd.3 + 5 1733 c.874G>T c.(874-876)GGA>TGA p.G292* NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 292 ovary(1) 1 Esophageal squamous(110;0.162) GGAAAGCTTAGGACACTGTGA 0.383 6 85 --- --- --- --- PASS SCGBL 284402 broad.mit.edu 37 19 35085114 35085114 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:35085114G>T uc002nvn.2 - 2 234 c.212C>A c.(211-213)TCC>TAC p.S71Y NM_001025591 NP_001020762 Q4G0G5 SCGBL_HUMAN secretoglobin-like precursor 71 extracellular region binding 0 TTCTGTCACGGAGACATTGGC 0.547 6 104 --- --- --- --- PASS LIN37 55957 broad.mit.edu 37 19 36245203 36245203 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:36245203G>C uc002obm.2 + 9 756 c.642G>C c.(640-642)TGG>TGC p.W214C uc002obl.2_5'Flank NM_019104 NP_061977 Q96GY3 LIN37_HUMAN lin-37 homolog 214 protein binding 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGCAGCGCTGGAAACGCATCC 0.637 23 103 --- --- --- --- PASS NPHS1 4868 broad.mit.edu 37 19 36335228 36335228 + Silent SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:36335228G>C uc002oby.2 - 15 2064 c.2064C>G c.(2062-2064)CTC>CTG p.L688L NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 688 Extracellular (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CACCTGGACTGAGGCGATAGC 0.697 6 18 --- --- --- --- PASS ZFP14 57677 broad.mit.edu 37 19 36832139 36832139 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:36832139C>T uc002odx.1 - 4 682 c.589G>A c.(589-591)GAG>AAG p.E197K ZFP14_uc010xtd.1_Missense_Mutation_p.E198K|ZFP14_uc010eex.1_Missense_Mutation_p.E197K NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) TAAGGTTTCTCACCAGTATGA 0.428 23 78 --- --- --- --- PASS ZNF420 147923 broad.mit.edu 37 19 37619911 37619911 + Missense_Mutation SNP A G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:37619911A>G uc002ofl.2 + 5 2233 c.2018A>G c.(2017-2019)TAT>TGT p.Y673C NM_144689 NP_653290 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTTTTGAATATAAGGAATGT 0.378 11 36 --- --- --- --- PASS SUPT5H 6829 broad.mit.edu 37 19 39950220 39950220 + Silent SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:39950220C>G uc002olo.3 + 9 725 c.546C>G c.(544-546)GTC>GTG p.V182V SUPT5H_uc002olp.3_Silent_p.V182V|SUPT5H_uc002olq.3_Silent_p.V178V|SUPT5H_uc002oln.3_Silent_p.V182V|SUPT5H_uc002olr.3_Silent_p.V182V NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 182 Interaction with SUPT4H1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TGTGGACTGTCAAATGTAAGG 0.557 37 81 --- --- --- --- PASS TEX101 83639 broad.mit.edu 37 19 43922125 43922125 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:43922125C>A uc010xwo.1 + 5 682 c.487C>A c.(487-489)CGA>AGA p.R163R TEX101_uc002owk.2_Silent_p.R181R NM_001130011 NP_001123483 Q9BY14 TX101_HUMAN testis expressed 101 isoform 2 163 anchored to membrane|plasma membrane ovary(1) 1 Prostate(69;0.0199) TGGTACAACTCGATGCTATCA 0.473 5 83 --- --- --- --- PASS TEX101 83639 broad.mit.edu 37 19 43922432 43922432 + Missense_Mutation SNP T A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:43922432T>A uc010xwo.1 + 6 828 c.633T>A c.(631-633)CAT>CAA p.H211Q TEX101_uc002owk.2_Missense_Mutation_p.H229Q NM_001130011 NP_001123483 Q9BY14 TX101_HUMAN testis expressed 101 isoform 2 211 anchored to membrane|plasma membrane ovary(1) 1 Prostate(69;0.0199) CGTGCCCACATCAGCTGCTCA 0.532 29 64 --- --- --- --- PASS ZNF45 7596 broad.mit.edu 37 19 44418134 44418134 + Nonsense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:44418134G>C uc002oxu.1 - 4 1553 c.1454C>G c.(1453-1455)TCA>TGA p.S485* ZNF45_uc002oxw.1_Nonsense_Mutation_p.S485*|ZNF45_uc002oxv.1_Nonsense_Mutation_p.S485* NM_003425 NP_003416 Q02386 ZNF45_HUMAN zinc finger protein 45 485 C2H2-type 12. multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 ATTAAGATCTGAGCTCCGACT 0.502 11 36 --- --- --- --- PASS ZNF229 7772 broad.mit.edu 37 19 44934257 44934257 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:44934257G>A uc002oze.1 - 6 1133 c.699C>T c.(697-699)TTC>TTT p.F233F ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.F227F NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) CTATTTCAGGGAATCTGTGAT 0.378 18 47 --- --- --- --- PASS PPP1R13L 10848 broad.mit.edu 37 19 45885827 45885827 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:45885827C>A uc002pbn.2 - 12 2483 c.2406G>T c.(2404-2406)GCG>GCT p.A802A PPP1R13L_uc002pbm.2_Silent_p.A381A|PPP1R13L_uc002pbo.2_Silent_p.A802A NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 802 SH3. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GGCCGTGCAGCGCGGCCCACC 0.697 11 28 --- --- --- --- PASS LIG1 3978 broad.mit.edu 37 19 48631193 48631193 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:48631193G>T uc002pia.1 - 20 2026 c.1906C>A c.(1906-1908)CAA>AAA p.Q636K LIG1_uc010xze.1_Missense_Mutation_p.Q329K|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.Q568K|LIG1_uc010xzg.1_Missense_Mutation_p.Q605K NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 636 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) GTGAGCACTTGGAATGGCTGG 0.572 NER 8 181 --- --- --- --- PASS HRC 3270 broad.mit.edu 37 19 49657014 49657014 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:49657014G>C uc002pmv.2 - 1 1668 c.1481C>G c.(1480-1482)TCC>TGC p.S494C NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 494 muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) TTCCTCATGGGAGCCGGGGTC 0.547 8 53 --- --- --- --- PASS ETFB 2109 broad.mit.edu 37 19 51857558 51857558 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:51857558C>A uc002pwh.2 - 2 154 c.62G>T c.(61-63)CGA>CTA p.R21L ETFB_uc002pwg.2_Missense_Mutation_p.R112L NM_001985 NP_001976 P38117 ETFB_HUMAN electron-transfer-flavoprotein, beta polypeptide 21 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661) AGGCTTCACTCGGATCTGCCC 0.532 4 58 --- --- --- --- PASS ZNF28 7576 broad.mit.edu 37 19 53302992 53302992 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:53302992C>A uc002qad.2 - 4 2226 c.2106G>T c.(2104-2106)CAG>CAT p.Q702H ZNF28_uc002qac.2_Missense_Mutation_p.Q649H|ZNF28_uc010eqe.2_Missense_Mutation_p.Q648H NM_006969 NP_008900 P17035 ZNF28_HUMAN zinc finger protein 28 702 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) GGTTTGACATCTGACTGAAGG 0.413 18 40 --- --- --- --- PASS KIR3DX1 90011 broad.mit.edu 37 19 55045040 55045040 + RNA SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:55045040C>T uc010yfa.1 + 3 c.266C>T KIR3DX1_uc010yfb.1_RNA|KIR3DX1_uc010yfc.1_RNA|KIR3DX1_uc010yfd.1_RNA NR_026716 Homo sapiens mRNA for FLJ00060 protein, partial cds. ovary(1) 1 GBM - Glioblastoma multiforme(193;0.099) TTCCCATCTTCGGTTTGTCAT 0.537 7 53 --- --- --- --- PASS KIR2DS4 3809 broad.mit.edu 37 19 55349259 55349259 + Missense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:55349259G>A uc002qhm.1 + 3 345 c.299G>A c.(298-300)TGC>TAC p.C100Y KIR2DS4_uc010yfj.1_Missense_Mutation_p.C93Y|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.C100Y|KIR2DS4_uc002qhn.1_Missense_Mutation_p.C47Y NM_012314 NP_036446 P43632 KI2S4_HUMAN killer cell immunoglobulin-like receptor, two 100 Extracellular (Potential).|Ig-like C2-type 1. integral to plasma membrane receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) ACCTACAGATGCTACGGTTCT 0.507 73 252 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56370258 56370258 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:56370258G>T uc002qmd.3 + 3 1921 c.1499G>T c.(1498-1500)GGG>GTG p.G500V NLRP4_uc002qmf.2_Missense_Mutation_p.G425V|NLRP4_uc010etf.2_Missense_Mutation_p.G331V NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 500 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ATTTTTTTGGGGTGTTTTCTA 0.408 48 75 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56390162 56390162 + Missense_Mutation SNP T G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:56390162T>G uc002qmd.3 + 9 3121 c.2699T>G c.(2698-2700)TTG>TGG p.L900W NLRP4_uc002qmf.2_Missense_Mutation_p.L825W|NLRP4_uc010etf.2_Missense_Mutation_p.L675W NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 900 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TATTGCAGGTTGGAAGAATGT 0.532 9 18 --- --- --- --- PASS ESF1 51575 broad.mit.edu 37 20 13756704 13756704 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr20:13756704C>A uc002woj.2 - 3 958 c.850G>T c.(850-852)GAG>TAG p.E284* ESF1_uc002wok.1_Nonsense_Mutation_p.E284* NM_016649 NP_057733 Q9H501 ESF1_HUMAN ABT1-associated protein 284 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm ovary(1) 1 tcttcatcctcctcttcatct 0.229 13 30 --- --- --- --- PASS PCSK2 5126 broad.mit.edu 37 20 17208026 17208026 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr20:17208026G>C uc002wpm.2 + 1 396 c.76G>C c.(76-78)GAG>CAG p.E26Q PCSK2_uc002wpl.2_Missense_Mutation_p.E7Q|PCSK2_uc010zrm.1_Missense_Mutation_p.E26Q NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 26 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGCATCTGCTGAGCGACCGGT 0.527 17 64 --- --- --- --- PASS SUN5 140732 broad.mit.edu 37 20 31577469 31577469 + Missense_Mutation SNP G T T rs150666576 TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr20:31577469G>T uc002wyi.2 - 9 663 c.570C>A c.(568-570)CAC>CAA p.H190Q NM_080675 NP_542406 Q8TC36 SUN5_HUMAN sperm associated antigen 4-like 190 spermatogenesis skin(1) 1 TGTAATCTCCGTGTATCATCT 0.488 14 43 --- --- --- --- PASS CDK5RAP1 51654 broad.mit.edu 37 20 31967387 31967387 + Silent SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr20:31967387G>T uc010gek.2 - 9 1153 c.1029C>A c.(1027-1029)ACC>ACA p.T343T CDK5RAP1_uc002wyy.2_Silent_p.T239T|CDK5RAP1_uc002wyz.2_Silent_p.T329T|CDK5RAP1_uc002wza.2_Silent_p.T329T|CDK5RAP1_uc010gel.2_Silent_p.T238T|CDK5RAP1_uc010gem.2_Intron|CDK5RAP1_uc002wzc.1_Silent_p.T329T NM_016408 NP_057492 Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 343 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity ovary(2)|skin(2)|lung(1) 5 TTTTATAGTTGGTGGTAAAGC 0.463 5 46 --- --- --- --- PASS PHF20 51230 broad.mit.edu 37 20 34459591 34459591 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr20:34459591G>T uc002xek.1 + 9 1233 c.1122G>T c.(1120-1122)TTG>TTT p.L374F PHF20_uc002xei.1_Missense_Mutation_p.L374F|PHF20_uc010gfo.1_Missense_Mutation_p.L374F|PHF20_uc002xej.1_Missense_Mutation_p.L258F NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 374 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) AGTCTGCTTTGGAAGCTGGCC 0.448 6 107 --- --- --- --- PASS C20orf24 55969 broad.mit.edu 37 20 35240420 35240420 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr20:35240420G>T uc002xfq.2 + 4 544 c.356G>T c.(355-357)TGG>TTG p.W119L C20orf24_uc002xfo.2_Missense_Mutation_p.W145L|C20orf24_uc002xfp.2_3'UTR|C20orf24_uc002xft.2_RNA|C20orf24_uc002xfr.2_Nonsense_Mutation_p.G76*|C20orf24_uc002xfs.2_Missense_Mutation_p.L128F NM_018840 NP_061328 Q9BUV8 CT024_HUMAN RAB5-interacting protein isoform a 119 LFMVCVADSFTTGHLDHLLHCHPL -> IVHGHLLLLFTSH PYSMMVSDSK (in Ref. 6; AAB50849). protein binding 0 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) TAGGTCATTTGGATCATCTTT 0.463 8 209 --- --- --- --- PASS C20orf117 140710 broad.mit.edu 37 20 35443568 35443568 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr20:35443568C>A uc002xgd.1 - 5 1890 c.1563G>T c.(1561-1563)AAG>AAT p.K521N C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 521 0 Myeloproliferative disorder(115;0.00874) GAAGAATCTCCTTAGAGAGCC 0.463 8 150 --- --- --- --- PASS SEMG2 6407 broad.mit.edu 37 20 43851673 43851673 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr20:43851673C>A uc010ggz.2 + 2 1457 c.1400C>A c.(1399-1401)TCA>TAA p.S467* SEMG2_uc002xnk.2_Nonsense_Mutation_p.S467*|SEMG2_uc002xnl.2_Intron NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 467 Repeat-rich region.|4 X 60 AA tandem repeats, type I. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) AATAAAATGTCATACCAATCT 0.368 24 37 --- --- --- --- PASS ZSWIM3 140831 broad.mit.edu 37 20 44505923 44505923 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr20:44505923G>T uc002xqd.2 + 2 929 c.726G>T c.(724-726)AAG>AAT p.K242N ZSWIM3_uc010zxg.1_Missense_Mutation_p.K236N NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM domain containing 3 242 zinc ion binding ovary(2) 2 Myeloproliferative disorder(115;0.0122) TGGAGAACAAGGAACGAGAAA 0.527 6 70 --- --- --- --- PASS ZNF335 63925 broad.mit.edu 37 20 44586512 44586512 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr20:44586512G>C uc002xqw.2 - 16 2432 c.2309C>G c.(2308-2310)TCT>TGT p.S770C ZNF335_uc010zxk.1_Missense_Mutation_p.S615C NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 770 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) CAGGGTGTCAGAACAGAGCAA 0.597 22 63 --- --- --- --- PASS SLC13A3 64849 broad.mit.edu 37 20 45192078 45192078 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr20:45192078G>T uc002xsf.1 - 12 1645 c.1607C>A c.(1606-1608)TCT>TAT p.S536Y SLC13A3_uc010ghn.1_Missense_Mutation_p.S505Y|SLC13A3_uc010zxw.1_Missense_Mutation_p.S486Y|SLC13A3_uc002xsg.1_Missense_Mutation_p.S489Y|SLC13A3_uc010gho.1_Missense_Mutation_p.S454Y|SLC13A3_uc010zxx.1_Missense_Mutation_p.S438Y|SLC13A3_uc002xse.1_Missense_Mutation_p.S27Y|SLC13A3_uc010ghm.1_Missense_Mutation_p.S123Y|SLC13A3_uc010zxv.1_Missense_Mutation_p.S121Y NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN solute carrier family 13 member 3 isoform a 536 Cytoplasmic (Potential). integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) CAAGTGTCCAGAGGCGAAGGC 0.622 5 38 --- --- --- --- PASS KCNG1 3755 broad.mit.edu 37 20 49626715 49626715 + Missense_Mutation SNP T A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr20:49626715T>A uc002xwa.3 - 2 456 c.161A>T c.(160-162)CAG>CTG p.Q54L KCNG1_uc002xwb.2_Missense_Mutation_p.Q54L NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, 54 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 CTGACAGCCCTGGCGGGGCTC 0.706 7 8 --- --- --- --- PASS RAE1 8480 broad.mit.edu 37 20 55953067 55953067 + Splice_Site SNP A G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr20:55953067A>G uc002xyg.2 + 12 1362 c.1021_splice c.e12-2 p.G341_splice RAE1_uc002xyh.2_Splice_Site_p.G341_splice|RAE1_uc002xyi.2_Splice_Site_p.G341_splice NM_003610 NP_003601 P78406 RAE1L_HUMAN RAE1 (RNA export 1, S.pombe) homolog carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore microtubule binding|RNA binding 0 Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08) TGCTCTCTTTAGGGACATGAA 0.373 11 33 --- --- --- --- PASS PHACTR3 116154 broad.mit.edu 37 20 58322835 58322835 + Silent SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr20:58322835C>A uc002yau.2 + 3 770 c.303C>A c.(301-303)GGC>GGA p.G101G PHACTR3_uc002yat.2_Silent_p.G98G|PHACTR3_uc010zzw.1_Silent_p.G60G|PHACTR3_uc002yav.2_Silent_p.G60G|PHACTR3_uc002yaw.2_Silent_p.G60G|PHACTR3_uc002yax.2_Silent_p.G60G NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 101 RPEL 1. 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) AGATGGCCGGCAGGCAAGGCC 0.607 45 61 --- --- --- --- PASS TAF4 6874 broad.mit.edu 37 20 60582658 60582658 + Missense_Mutation SNP C A A rs149456775 TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr20:60582658C>A uc002ybs.2 - 6 1919 c.1919G>T c.(1918-1920)AGG>ATG p.R640M NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 640 TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TCGGTATAACCTGCTTGTGAA 0.438 9 199 --- --- --- --- PASS LIPI 149998 broad.mit.edu 37 21 15537643 15537643 + Missense_Mutation SNP A T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr21:15537643A>T uc002yjm.2 - 6 875 c.865T>A c.(865-867)TGC>AGC p.C289S LIPI_uc010gkw.1_Missense_Mutation_p.C192S NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 268 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) ATAAAATTGCAGTTTGTTTCT 0.353 7 13 --- --- --- --- PASS RUNX1 861 broad.mit.edu 37 21 36252918 36252918 + Silent SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr21:36252918G>A uc002yuh.2 - 2 1941 c.363C>T c.(361-363)ACC>ACT p.T121T RUNX1_uc002yui.2_Silent_p.T121T|RUNX1_uc010gmu.2_Silent_p.T148T|RUNX1_uc010gmv.2_Silent_p.T148T|RUNX1_uc002yuj.3_Silent_p.T16T|RUNX1_uc002yuk.3_Silent_p.T148T|RUNX1_uc002yum.1_Silent_p.T16T|RUNX1_uc010gmw.1_Silent_p.T148T|RUNX1_uc002yuo.1_Silent_p.T121T|RUNX1_uc002yur.1_Silent_p.T16T NM_001001890 NP_001001890 Q01196 RUNX1_HUMAN runt-related transcription factor 1 isoform 121 Runt. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus|nucleus ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding p.L121fs*2(1)|p.A149fs*2(1) haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1) 387 TCATGGCTGCGGTAGCATTTC 0.483 T RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4 AML|preB- ALL|T-ALL Platelet_disorder_associated_with_Myeloid_Malignancies 7 6 --- --- --- --- PASS CCT8L2 150160 broad.mit.edu 37 22 17072852 17072852 + Missense_Mutation SNP T C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr22:17072852T>C uc002zlp.1 - 1 849 c.589A>G c.(589-591)AGC>GGC p.S197G NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 197 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GGCTTGAAGCTGCCGTCTAGT 0.617 12 32 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23135303 23135303 + RNA SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr22:23135303C>A uc011aim.1 + 251 c.11945C>A Parts of antibodies, mostly variable regions. 0 ACTATGTCTCCTGGTACCAAC 0.552 10 331 --- --- --- --- PASS RFPL2 10739 broad.mit.edu 37 22 32598391 32598391 + Silent SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr22:32598391G>T uc003amg.3 - 2 984 c.48C>A c.(46-48)TCC>TCA p.S16S RFPL2_uc003amf.3_5'UTR|RFPL2_uc003amh.3_5'UTR NM_001098527 NP_001091997 O75678 RFPL2_HUMAN ret finger protein-like 2 isoform 2 16 zinc ion binding skin(1) 1 gacagatcctggattgggaca 0.030 9 23 --- --- --- --- PASS EIF3L 51386 broad.mit.edu 37 22 38247364 38247364 + Missense_Mutation SNP A G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr22:38247364A>G uc003auf.2 + 3 247 c.160A>G c.(160-162)AAC>GAC p.N54D EIF3L_uc003aue.1_Missense_Mutation_p.N54D|EIF3L_uc011ann.1_Missense_Mutation_p.N54D|EIF3L_uc003aug.2_5'UTR NM_016091 NP_057175 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3 54 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 GGTGATCAAAAACTTCATCCA 0.433 10 45 --- --- --- --- PASS L3MBTL2 83746 broad.mit.edu 37 22 41613159 41613159 + Missense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr22:41613159C>A uc003azo.2 + 5 607 c.553C>A c.(553-555)CTG>ATG p.L185M L3MBTL2_uc010gyi.1_Missense_Mutation_p.L94M|L3MBTL2_uc003azn.2_RNA|uc003azp.1_RNA NM_031488 NP_113676 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 185 MBT 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 GGGGAAGTTCCTGAAGGATCA 0.637 6 83 --- --- --- --- PASS CYP2D6 1565 broad.mit.edu 37 22 42524814 42524814 + Missense_Mutation SNP A G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr22:42524814A>G uc003bce.2 - 4 728 c.638T>C c.(637-639)CTG>CCG p.L213P uc003bcd.1_Intron|CYP2D6_uc010gyu.2_5'UTR|CYP2D6_uc003bcf.2_Missense_Mutation_p.L162P NM_000106 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, 213 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen breast(1)|skin(1) 2 CTCCTCCTTCAGTCCCTCCTG 0.672 3 20 --- --- --- --- PASS ZBED4 9889 broad.mit.edu 37 22 50277561 50277561 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr22:50277561G>T uc003bix.2 + 2 721 c.251G>T c.(250-252)GGC>GTC p.G84V NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 84 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GATGACTATGGCGCGCTGTTC 0.627 28 57 --- --- --- --- PASS RPGR 6103 broad.mit.edu 37 X 38146439 38146439 + Missense_Mutation SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chrX:38146439C>G uc004ded.1 - 15 1981 c.1813G>C c.(1813-1815)GAG>CAG p.E605Q RPGR_uc004deb.2_Missense_Mutation_p.E605Q|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_Intron NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C 605 Glu-rich. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 gcttctacctcttgctcctct 0.204 5 6 --- --- --- --- PASS NHSL2 340527 broad.mit.edu 37 X 71360443 71360443 + Silent SNP C G G TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chrX:71360443C>G uc011mqa.1 + 6 3045 c.3045C>G c.(3043-3045)CTC>CTG p.L1015L NHSL2_uc004eak.1_Silent_p.L649L|NHSL2_uc010nli.2_Silent_p.L784L NM_001013627 NP_001013649 Q5HYW2 NHSL2_HUMAN NHS-like 2 1015 0 Renal(35;0.156) ACCTGCCTCTCACTTCTCCCA 0.542 6 11 --- --- --- --- PASS TGIF2LX 90316 broad.mit.edu 37 X 89177748 89177748 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chrX:89177748G>T uc004efe.2 + 2 713 c.664G>T c.(664-666)GAT>TAT p.D222Y NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 222 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 GCTGCTAGTCGATGCAGCAGT 0.507 13 12 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91133967 91133967 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chrX:91133967G>T uc004efk.1 + 2 3573 c.2728G>T c.(2728-2730)GAT>TAT p.D910Y PCDH11X_uc004efl.1_Missense_Mutation_p.D910Y|PCDH11X_uc004efo.1_Missense_Mutation_p.D910Y|PCDH11X_uc010nmv.1_Missense_Mutation_p.D910Y|PCDH11X_uc004efm.1_Missense_Mutation_p.D910Y|PCDH11X_uc004efn.1_Missense_Mutation_p.D910Y|PCDH11X_uc004efh.1_Missense_Mutation_p.D910Y|PCDH11X_uc004efj.1_Missense_Mutation_p.D910Y NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 910 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CCTTCCTATTGATCTAGAAGA 0.428 17 14 --- --- --- --- PASS BTK 695 broad.mit.edu 37 X 100611126 100611126 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chrX:100611126G>T uc004ehg.2 - 15 1673 c.1480C>A c.(1480-1482)CAG>AAG p.Q494K BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Missense_Mutation_p.Q64K|BTK_uc010nnn.2_Intron|BTK_uc010nno.2_Missense_Mutation_p.Q528K|BTK_uc004ehh.1_Intron|BTK_uc004ehi.2_Missense_Mutation_p.Q494K NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 494 Protein kinase. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 TGCTGAGTCTGGAAGCGGTGG 0.547 Agammaglobulinemia_X-linked 6 41 --- --- --- --- PASS IRS4 8471 broad.mit.edu 37 X 107977075 107977075 + Missense_Mutation SNP C T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chrX:107977075C>T uc004eoc.2 - 1 2533 c.2500G>A c.(2500-2502)GGA>AGA p.G834R NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 834 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 AGGAACTTTCCAGGTAACATT 0.488 96 71 --- --- --- --- PASS PAK3 5063 broad.mit.edu 37 X 110439768 110439768 + Missense_Mutation SNP G C C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chrX:110439768G>C uc004epa.2 + 13 1379 c.1352G>C c.(1351-1353)CGA>CCA p.R451P PAK3_uc010npt.1_Missense_Mutation_p.R436P|PAK3_uc010npu.1_Missense_Mutation_p.R436P|PAK3_uc004eoy.1_Missense_Mutation_p.R191P|PAK3_uc004eoz.2_Missense_Mutation_p.R436P|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.R472P|PAK3_uc010npw.1_Missense_Mutation_p.R457P NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 451 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 GTGGTGACTCGAAAAGCTTAT 0.473 TSP Lung(19;0.15) 11 16 --- --- --- --- PASS KIAA1210 57481 broad.mit.edu 37 X 118220998 118220998 + Nonsense_Mutation SNP C A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chrX:118220998C>A uc004era.3 - 11 4195 c.4195G>T c.(4195-4197)GGA>TGA p.G1399* NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1399 ovary(4)|skin(1) 5 TCATCTCTTCCTAGGAACCAA 0.443 6 86 --- --- --- --- PASS PHF6 84295 broad.mit.edu 37 X 133512083 133512083 + Missense_Mutation SNP G T T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chrX:133512083G>T uc004exj.2 + 3 389 c.187G>T c.(187-189)GGT>TGT p.G63C PHF6_uc004exk.2_Missense_Mutation_p.G63C|PHF6_uc011mvk.1_Intron|PHF6_uc004exh.2_Missense_Mutation_p.G63C|PHF6_uc010nrr.2_Missense_Mutation_p.G63C|PHF6_uc004exi.2_Missense_Mutation_p.G63C NM_001015877 NP_001015877 Q8IWS0 PHF6_HUMAN PHD finger protein 6 isoform 1 63 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) TGAAAGTCTTGGTGGATTTTC 0.294 5 25 --- --- --- --- PASS SRY 6736 broad.mit.edu 37 Y 2655257 2655257 + Nonsense_Mutation SNP G A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chrY:2655257G>A uc004fqg.1 - 1 536 c.388C>T c.(388-390)CGA>TGA p.R130* NM_003140 NP_003131 Q05066 SRY_HUMAN sex determining region Y 130 Sufficient for interaction with EP300.|Required for nuclear localization.|Sufficient for interaction with KPNB1. cell differentiation|male sex determination|positive regulation of transcription, DNA-dependent|sex differentiation cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 CGACGAGGTCGATACTTATAA 0.498 Swyer_syndrome 5 1 --- --- --- --- PASS FER1L5 90342 broad.mit.edu 37 2 97329243 97329243 + Frame_Shift_Del DEL A - - TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:97329243delA uc010fia.2 + 13 1088 c.1088delA c.(1087-1089)CAGfs p.Q363fs NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 363 C2 3. integral to membrane ovary(1) 1 TTCCGGATTCAGGTATGGCTC 0.552 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 2 130725823 130725823 + RNA DEL G - - TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr2:130725823delG uc002tpw.1 - 6 c.802delC Homo sapiens cDNA FLJ41458 fis, clone BRSTN2014490. GCAAGCTTGTGGACATCCTCA 0.458 17 9 --- --- --- --- OXSR1 9943 broad.mit.edu 37 3 38207437 38207437 + Frame_Shift_Del DEL G - - TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:38207437delG uc003chy.2 + 1 412 c.70delG c.(70-72)GGGfs p.G24fs OXSR1_uc010hhb.2_5'UTR|OXSR1_uc010hha.1_5'UTR NM_005109 NP_005100 O95747 OXSR1_HUMAN oxidative-stress responsive 1 24 Protein kinase.|ATP (By similarity). intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GGAGGTGATCGGTGAGAGCAG 0.716 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 3 195427029 195427029 + RNA DEL T - - rs75389211 TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr3:195427029delT uc011btd.1 + 1 c.208delT uc003fux.1_RNA Homo sapiens cDNA FLJ46488 fis, clone THYMU3026869. gcaacaggaattttttcaggc 0.015 9 4 --- --- --- --- BAK1 578 broad.mit.edu 37 6 33541613 33541623 + Frame_Shift_Del DEL GCCCAACAGAA - - TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr6:33541613_33541623delGCCCAACAGAA uc003oes.2 - 6 893_903 c.593_603delTTCTGTTGGGC c.(592-603)GTTCTGTTGGGCfs p.V198fs BAK1_uc003oer.2_Frame_Shift_Del_p.V128fs|BAK1_uc003oet.2_RNA|BAK1_uc010jvb.2_Frame_Shift_Del_p.V198fs|BAK1_uc003oeu.2_Frame_Shift_Del_p.V139fs NM_001188 NP_001179 Q16611 BAK_HUMAN BCL2-antagonist/killer 1 198_201 Helical; (Potential). activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria integral to mitochondrial outer membrane|pore complex metal ion binding|protein heterodimerization activity ovary(1) 1 CCACAAACTGGCCCAACAGAACCACACCCAG 0.559 12 20 --- --- --- --- GLIS3 169792 broad.mit.edu 37 9 3829318 3829318 + Frame_Shift_Del DEL C - - TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr9:3829318delC uc003zhw.1 - 9 2377 c.2183delG c.(2182-2184)GGCfs p.G728fs GLIS3_uc003zhx.1_Frame_Shift_Del_p.G883fs|GLIS3_uc010mhf.1_Frame_Shift_Del_p.G277fs|GLIS3_uc003zhv.1_RNA NM_152629 NP_689842 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform b 728 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) ACCTGTAATGCCCGAGTGAGT 0.552 16 13 --- --- --- --- CNTNAP3 79937 broad.mit.edu 37 9 39149853 39149853 + Frame_Shift_Del DEL C - - TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr9:39149853delC uc004abi.2 - 10 1838 c.1599delG c.(1597-1599)GCGfs p.A533fs CNTNAP3_uc004abj.2_Frame_Shift_Del_p.A533fs|CNTNAP3_uc011lqr.1_Intron|CNTNAP3_uc004abk.1_Frame_Shift_Del_p.A533fs|CNTNAP3_uc011lqs.1_Intron|CNTNAP3_uc004abl.1_Intron NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN cell recognition molecule CASPR3 precursor 533 Extracellular (Potential).|Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AACTCCCCAGCGCCCCCTGCT 0.542 4 4 --- --- --- --- ACBD7 414149 broad.mit.edu 37 10 15059240 15059240 + Frame_Shift_Del DEL G - - TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr10:15059240delG uc010qby.1 - 6 442 c.133delC c.(133-135)CAAfs p.Q45fs Q8N6N7 ACBD7_HUMAN SubName: Full=cDNA FLJ52263, highly similar to Artemis protein (EC 3.1.-.-); Error:Variant_position_missing_in_Q8N6N7_after_alignment fatty-acyl-CoA binding 0 CTTGGAATTTGGTAAAATCTT 0.368 31 19 --- --- --- --- CELF6 60677 broad.mit.edu 37 15 72582506 72582507 + Frame_Shift_Ins INS - A A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr15:72582506_72582507insA uc002auh.2 - 4 794_795 c.484_485insT c.(484-486)GAGfs p.E162fs uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Frame_Shift_Ins_p.E49fs|CELF6_uc010ukl.1_Frame_Shift_Ins_p.E47fs|CELF6_uc010ukm.1_Frame_Shift_Ins_p.E162fs|CELF6_uc002aui.2_Frame_Shift_Ins_p.E268fs|CELF6_uc002auj.2_Frame_Shift_Ins_p.E49fs NM_052840 NP_443072 Q96J87 CELF6_HUMAN bruno-like 6, RNA binding protein 162 RRM 2. mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding large_intestine(1)|central_nervous_system(1)|skin(1) 3 GACCGTGCACTCCTCGATGTGG 0.599 36 20 --- --- --- --- DKFZp434J0226 93429 broad.mit.edu 37 19 46716265 46716265 + RNA DEL C - - TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:46716265delC uc010xxw.1 + 4 c.516delC NR_027003 Homo sapiens mRNA; cDNA DKFZp434J0226 (from clone DKFZp434J0226). 0 CCATGAGCTGCAGGTGAGTGA 0.557 4 2 --- --- --- --- ZNF160 90338 broad.mit.edu 37 19 53571486 53571486 + Frame_Shift_Del DEL C - - TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr19:53571486delC uc010eqk.2 - 7 2717 c.2301delG c.(2299-2301)GGGfs p.G767fs ZNF160_uc002qaq.3_Frame_Shift_Del_p.G767fs|ZNF160_uc002qar.3_Frame_Shift_Del_p.G767fs NM_001102603 NP_001096073 Q9HCG1 ZN160_HUMAN zinc finger protein 160 767 C2H2-type 19. hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(134;0.02) TAAAGGCTTTCCCACACTCTG 0.433 45 23 --- --- --- --- CHMP4B 128866 broad.mit.edu 37 20 32399279 32399279 + Frame_Shift_Del DEL C - - TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr20:32399279delC uc002xaa.2 + 1 161 c.5delC c.(4-6)TCGfs p.S2fs NM_176812 NP_789782 Q9H444 CHM4B_HUMAN chromatin modifying protein 4B 2 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding ovary(1)|central_nervous_system(1) 2 GCAACCATGTCGGTGTTCGGG 0.403 4 2 --- --- --- --- KRTAP10-3 386682 broad.mit.edu 37 21 45978509 45978509 + Frame_Shift_Del DEL G - - TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d732196f-ef85-43ea-aac7-7c9060bf19c5 7ad070ce-6ace-4f7a-97e5-e234783df2ec g.chr21:45978509delG uc002zfj.1 - 1 135 c.90delC c.(88-90)CCCfs p.P30fs C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198696 NP_941969 P60369 KR103_HUMAN keratin associated protein 10-3 30 1.|18 X 5 AA repeats of C-C-X(3). keratin filament skin(1) 1 TGGCGCAGCAGGGGGGCTCAC 0.697 16 9 --- --- --- ---