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 AADACL4 343066 broad.mit.edu 37 1 12726232 12726232 + Missense_Mutation SNP A G G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr1:12726232A>G uc001auf.2 + 4 710 c.710A>G c.(709-711)CAG>CGG p.Q237R NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 237 Lumenal (Potential). integral to membrane carboxylesterase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TCCTTTCAGCAGAACCAAAAT 0.517 C1orf173 127254 broad.mit.edu 37 1 75038917 75038917 + Missense_Mutation SNP G C C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr1:75038917G>C uc001dgg.2 - 14 2696 c.2477C>G c.(2476-2478)ACA>AGA p.T826R NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 826 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CCTTTTTTCTGTAAACTCTTC 0.582 MAGI3 260425 broad.mit.edu 37 1 114215328 114215328 + Missense_Mutation SNP G A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr1:114215328G>A uc001edk.2 + 18 3191 c.3010G>A c.(3010-3012)GCA>ACA p.A1004T MAGI3_uc001edh.3_Missense_Mutation_p.A1029T|MAGI3_uc001edi.3_Missense_Mutation_p.A1004T|MAGI3_uc010owm.1_Missense_Mutation_p.A1029T|MAGI3_uc001edj.2_Missense_Mutation_p.A725T NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 1029 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCTGACACCGCAGTAATTTC 0.458 MTMR11 10903 broad.mit.edu 37 1 149906114 149906114 + Missense_Mutation SNP G A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr1:149906114G>A uc001etl.3 - 7 904 c.653C>T c.(652-654)ACG>ATG p.T218M MTMR11_uc001etm.1_Missense_Mutation_p.T146M|MTMR11_uc010pbm.1_Missense_Mutation_p.T190M|MTMR11_uc010pbn.1_Missense_Mutation_p.T60M NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 218 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) CTCGTTGACCGTGCTGACCCT 0.572 PLXNA2 5362 broad.mit.edu 37 1 208391207 208391207 + Missense_Mutation SNP G T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr1:208391207G>T uc001hgz.2 - 2 819 c.61C>A c.(61-63)CTC>ATC p.L21I PLXNA2_uc001hha.3_Missense_Mutation_p.L75I NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 21 axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) ACCACTGAGAGCAGGACCACA 0.657 PTEN 5728 broad.mit.edu 37 10 89720805 89720808 + Frame_Shift_Del DEL CTTT - - TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr10:89720805_89720808delCTTT uc001kfb.2 + 9 1987_1990 c.956_959delCTTT c.(955-960)ACTTTAfs p.T319fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 319_320 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.T319fs*1(22)|p.L318fs*2(11)|p.T319fs*6(6)|p.R55fs*1(4)|p.T319fs*24(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.L320*(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.T319fs*5(1)|p.W274_F341del(1)|p.V317_K322del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CTAGTACTTACTTTAACAAAAAAT 0.328 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) C10orf12 26148 broad.mit.edu 37 10 98743678 98743678 + Missense_Mutation SNP G T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr10:98743678G>T uc001kmv.2 + 1 2638 c.2531G>T c.(2530-2532)AGG>ATG p.R844M NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 844 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) AGCAAGAAAAGGTCACGGAAA 0.393 CTBP2 1488 broad.mit.edu 37 10 126727602 126727602 + Nonsense_Mutation SNP T A A rs76555439 TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr10:126727602T>A uc009yak.2 - 3 309 c.22A>T c.(22-24)AAA>TAA p.K8* CTBP2_uc009yal.2_Nonsense_Mutation_p.K8*|CTBP2_uc001lif.3_Nonsense_Mutation_p.K8*|CTBP2_uc001lih.3_Nonsense_Mutation_p.K8* NM_001329 NP_001320 P56545 CTBP2_HUMAN C-terminal binding protein 2 isoform 1 8 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding 0 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CTCTTGACTTTGTGCTTATCC 0.453 CTBP2 1488 broad.mit.edu 37 10 126727604 126727604 + Missense_Mutation SNP T C C rs3208567 TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr10:126727604T>C uc009yak.2 - 3 307 c.20A>G c.(19-21)CAC>CGC p.H7R CTBP2_uc009yal.2_Missense_Mutation_p.H7R|CTBP2_uc001lif.3_Missense_Mutation_p.H7R|CTBP2_uc001lih.3_Missense_Mutation_p.H7R NM_001329 NP_001320 P56545 CTBP2_HUMAN C-terminal binding protein 2 isoform 1 7 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding 0 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CTTGACTTTGTGCTTATCCAC 0.453 AMPD3 272 broad.mit.edu 37 11 10514962 10514962 + Missense_Mutation SNP A T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr11:10514962A>T uc001mio.1 + 7 1341 c.1006A>T c.(1006-1008)ACA>TCA p.T336S AMPD3_uc010rbz.1_Missense_Mutation_p.T177S|AMPD3_uc001min.1_Missense_Mutation_p.T345S|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.T343S|AMPD3_uc009yfy.2_Missense_Mutation_p.T336S NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 336 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) CATCAAGCACACATACCAGAC 0.612 VWA5A 4013 broad.mit.edu 37 11 124007318 124007318 + Missense_Mutation SNP C G G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr11:124007318C>G uc001pzu.2 + 14 1771 c.1562C>G c.(1561-1563)ACA>AGA p.T521R VWA5A_uc001pzt.2_Missense_Mutation_p.T521R NM_001130142 NP_001123614 O00534 VMA5A_HUMAN BCSC-1 isoform 1 521 upper_aerodigestive_tract(1)|ovary(1) 2 CTCAAATATACACTCCAGGGC 0.378 DYRK4 8798 broad.mit.edu 37 12 4721722 4721722 + Missense_Mutation SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr12:4721722C>T uc001qmx.2 + 12 1319 c.1159C>T c.(1159-1161)CTT>TTT p.L387F DYRK4_uc009zeh.1_Missense_Mutation_p.L502F|DYRK4_uc001qmy.1_Missense_Mutation_p.L387F|DYRK4_uc001qmz.1_Missense_Mutation_p.L101F|DYRK4_uc001qna.1_Missense_Mutation_p.L24F|DYRK4_uc010ser.1_Missense_Mutation_p.L24F NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 387 Protein kinase. Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|skin(1) 3 Colorectal(7;0.103) GGAACCTTCTCTTCGCATGAC 0.448 ABCC9 10060 broad.mit.edu 37 12 21997717 21997717 + Missense_Mutation SNP T C C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr12:21997717T>C uc001rfi.1 - 25 3249 c.3229A>G c.(3229-3231)ATC>GTC p.I1077V ABCC9_uc001rfh.2_Missense_Mutation_p.I1077V|ABCC9_uc001rfj.1_Missense_Mutation_p.I1041V NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1077 ABC transmembrane type-1 2.|Cytoplasmic (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GGTCCAAGGATTATCTTATTG 0.368 HOXC11 3227 broad.mit.edu 37 12 54367099 54367099 + Missense_Mutation SNP G A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr12:54367099G>A uc001sem.2 + 1 190 c.74G>A c.(73-75)CGA>CAA p.R25Q NM_014212 NP_055027 O43248 HXC11_HUMAN homeobox C11 25 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TTCGGCGAGCGAGGGAGCTGC 0.617 T NUP98 AML TMTC2 160335 broad.mit.edu 37 12 83289748 83289748 + Missense_Mutation SNP G A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr12:83289748G>A uc001szt.2 + 3 1238 c.806G>A c.(805-807)CGC>CAC p.R269H TMTC2_uc001szr.1_Missense_Mutation_p.R269H|TMTC2_uc001szs.1_Missense_Mutation_p.R269H|TMTC2_uc010suk.1_Missense_Mutation_p.R24H NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 269 endoplasmic reticulum|integral to membrane binding ovary(2) 2 CTCCTCACCCGCACTCTCACC 0.527 HNF1A 6927 broad.mit.edu 37 12 121437175 121437175 + Missense_Mutation SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr12:121437175C>T uc001tzg.2 + 8 1629 c.1606C>T c.(1606-1608)CTC>TTC p.L536F HNF1A_uc010szn.1_Missense_Mutation_p.L536F NM_000545 NP_000536 P20823 HNF1A_HUMAN hepatic nuclear factor-1-alpha 536 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1) 116 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCTGGCCAGCCTCACGCCCAC 0.672 Hepatic_Adenoma_Familial_Clustering_of DZIP1 22873 broad.mit.edu 37 13 96234520 96234520 + Missense_Mutation SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr13:96234520C>T uc001vmk.2 - 23 3424 c.2572G>A c.(2572-2574)GTG>ATG p.V858M DZIP1_uc010afn.2_5'Flank|DZIP1_uc001vmi.2_Missense_Mutation_p.V106M|DZIP1_uc001vmj.2_Missense_Mutation_p.V334M|DZIP1_uc001vml.2_Missense_Mutation_p.V839M|DZIP1_uc001vmm.2_RNA NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 858 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) CAATCAGTCACAGTTACTAAG 0.408 OR4K5 79317 broad.mit.edu 37 14 20388930 20388930 + Silent SNP G T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr14:20388930G>T uc010tkw.1 + 1 165 c.165G>T c.(163-165)CTG>CTT p.L55L NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 55 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATACCAGCCTGCACTCCCCTA 0.408 ZFYVE26 23503 broad.mit.edu 37 14 68274502 68274502 + Missense_Mutation SNP G A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr14:68274502G>A uc001xka.2 - 5 638 c.499C>T c.(499-501)CCA>TCA p.P167S ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.P167S|ZFYVE26_uc010tta.1_Missense_Mutation_p.P167S NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 167 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCCTGTGCTGGCTGGGGAGAC 0.607 PSEN1 5663 broad.mit.edu 37 14 73678621 73678621 + Missense_Mutation SNP G C C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr14:73678621G>C uc001xnr.2 + 10 1384 c.1100G>C c.(1099-1101)AGT>ACT p.S367T PSEN1_uc001xnv.2_Missense_Mutation_p.S363T|PSEN1_uc010ark.2_Missense_Mutation_p.S363T|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA NM_000021 NP_000012 P49768 PSN1_HUMAN presenilin 1 isoform I-467 367 Required for interaction with CTNNB1.|Cytoplasmic (Potential). amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding breast(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) CTTTCCAGCAGTATCCTCGCT 0.493 OR4N3P 390539 broad.mit.edu 37 15 22414178 22414178 + Silent SNP A G G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr15:22414178A>G uc001yuf.2 + 1 477 c.477A>G c.(475-477)ACA>ACG p.T159T NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 CCATGTCCACATGCACCACCC 0.488 NOX5 79400 broad.mit.edu 37 15 69328195 69328195 + Silent SNP G A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr15:69328195G>A uc002ars.1 + 7 1127 c.1107G>A c.(1105-1107)CCG>CCA p.P369P NOX5_uc002arp.1_Silent_p.P351P|NOX5_uc002arq.1_Silent_p.P323P|NOX5_uc010bid.1_Silent_p.P334P|NOX5_uc002arr.1_Silent_p.P341P|NOX5_uc010bie.1_Silent_p.P169P|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 369 Ferric oxidoreductase.|Helical; (Potential). angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 CGGCCTCCCCGACAGGTGTCG 0.632 OTOA 146183 broad.mit.edu 37 16 21726417 21726417 + Missense_Mutation SNP G A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr16:21726417G>A uc002djh.2 + 13 1433 c.1432G>A c.(1432-1434)GTC>ATC p.V478I uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.V399I|OTOA_uc002dji.2_Missense_Mutation_p.V154I|OTOA_uc010vbk.1_Missense_Mutation_p.V126I NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 492 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) GAGAAGTGCCGTCTCCCAGTA 0.577 HERPUD1 9709 broad.mit.edu 37 16 56970643 56970643 + Missense_Mutation SNP G C C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr16:56970643G>C uc002eke.1 + 4 754 c.345G>C c.(343-345)CAG>CAC p.Q115H HERPUD1_uc010vhj.1_Missense_Mutation_p.Q176H|HERPUD1_uc002ekf.1_Missense_Mutation_p.Q114H|HERPUD1_uc002ekg.1_Missense_Mutation_p.Q90H|HERPUD1_uc010cco.1_Missense_Mutation_p.Q176H|HERPUD1_uc010ccp.1_Missense_Mutation_p.Q175H|HERPUD1_uc002ekh.1_5'UTR NM_014685 NP_055500 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum 115 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane protein binding 0 ATCGGGGACAGTATCCTGAGG 0.448 T ERG prostate ANKFY1 51479 broad.mit.edu 37 17 4084568 4084568 + Missense_Mutation SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr17:4084568C>T uc002fxq.1 - 16 2259 c.2221G>A c.(2221-2223)GCC>ACC p.A741T ANKFY1_uc002fxn.2_Missense_Mutation_p.A783T|ANKFY1_uc002fxo.2_Missense_Mutation_p.A742T|ANKFY1_uc002fxp.2_Missense_Mutation_p.A740T|ANKFY1_uc010ckp.2_Missense_Mutation_p.A683T NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 741 ANK 12. endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 AGAAAGCAGGCGGTGGGCTCG 0.522 USP6 9098 broad.mit.edu 37 17 5037255 5037255 + Missense_Mutation SNP G A A rs138849740 byFrequency TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr17:5037255G>A uc002gau.1 + 15 2688 c.458G>A c.(457-459)CGG>CAG p.R153Q USP6_uc002gav.1_Missense_Mutation_p.R153Q|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.2_Missense_Mutation_p.R214Q|uc002gay.1_5'Flank|uc002gba.2_5'Flank|uc002gbb.2_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 153 Rab-GAP TBC. protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 ACGACTCTCCGGAACCATGTC 0.562 T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts MYH13 8735 broad.mit.edu 37 17 10250061 10250061 + Missense_Mutation SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr17:10250061C>T uc002gmk.1 - 13 1289 c.1199G>A c.(1198-1200)GGC>GAC p.G400D MYH13_uc010vvf.1_Missense_Mutation_p.G75D NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 400 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 ACAGCACAGGCCCTTCAGCAT 0.458 KRTAP4-9 100132386 broad.mit.edu 37 17 39261809 39261809 + Missense_Mutation SNP T C C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr17:39261809T>C uc010wfp.1 + 1 169 c.169T>C c.(169-171)TCT>CCT p.S57P NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 57 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].|7. keratin filament 0 GTGCTGCCAGTCTGTGTGCTG 0.652 CDC27 996 broad.mit.edu 37 17 45219355 45219355 + Frame_Shift_Del DEL C - - TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr17:45219355delC uc002ild.3 - 12 1542 c.1415delG c.(1414-1416)GGTfs p.G472fs CDC27_uc002ile.3_Frame_Shift_Del_p.G478fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.G471fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.G411fs|CDC27_uc010wkq.1_Intron NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 472 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding lung(2)|breast(2)|ovary(1) 5 AGCTAAATAACCTTTCCCCAT 0.368 KIF2B 84643 broad.mit.edu 37 17 51900577 51900577 + Silent SNP G T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr17:51900577G>T uc002iua.2 + 1 339 c.183G>T c.(181-183)GTG>GTT p.V61V NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 61 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 TAGAGTGGGTGGAGAAAGCAG 0.557 KIF2B 84643 broad.mit.edu 37 17 51900579 51900579 + Missense_Mutation SNP A G G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr17:51900579A>G uc002iua.2 + 1 341 c.185A>G c.(184-186)GAG>GGG p.E62G NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 62 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 GAGTGGGTGGAGAAAGCAGTC 0.552 GRIN2C 2905 broad.mit.edu 37 17 72845978 72845978 + Missense_Mutation SNP G A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr17:72845978G>A uc002jlt.1 - 7 1742 c.1586C>T c.(1585-1587)ACG>ATG p.T529M GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.T529M NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 529 Extracellular (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) ACTGATGCCCGTCTCCACAAA 0.627 MC5R 4161 broad.mit.edu 37 18 13826125 13826125 + Missense_Mutation SNP A G G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr18:13826125A>G uc010xaf.1 + 1 361 c.361A>G c.(361-363)ATG>GTG p.M121V NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 121 Helical; Name=3; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 GTTTGACTCCATGATCTGCAT 0.517 KIAA0427 9811 broad.mit.edu 37 18 46284644 46284644 + Silent SNP A C C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr18:46284644A>C uc002ldc.2 + 8 1224 c.939A>C c.(937-939)CCA>CCC p.P313P KIAA0427_uc002ldd.2_Silent_p.P313P|KIAA0427_uc002lde.3_5'Flank NM_014772 NP_055587 O43310 CTIF_HUMAN hypothetical protein LOC9811 isoform 1 313 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding 0 GGCTGCCCCCACAGCAGTCAG 0.632 MAN2B1 4125 broad.mit.edu 37 19 12769127 12769127 + Missense_Mutation SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr19:12769127C>T uc002mub.2 - 9 1217 c.1141G>A c.(1141-1143)GCG>ACG p.A381T MAN2B1_uc010dyv.1_Missense_Mutation_p.A380T NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 381 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 GGGCCATCCGCGTAAGGGAAG 0.617 NLRP5 126206 broad.mit.edu 37 19 56565093 56565093 + Missense_Mutation SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr19:56565093C>T uc002qmj.2 + 13 3218 c.3218C>T c.(3217-3219)ACG>ATG p.T1073M NLRP5_uc002qmi.2_Missense_Mutation_p.T1054M NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 1073 LRR 12. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTGGATCTCACGGACAATGCC 0.587 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 C2orf39 92749 broad.mit.edu 37 2 26647184 26647184 + Silent SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr2:26647184C>T uc002rhg.2 + 4 476 c.402C>T c.(400-402)TTC>TTT p.F134F C2orf39_uc010eym.1_Intron NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 134 Potential. 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGACAAATTCGATGAAATCA 0.498 SRBD1 55133 broad.mit.edu 37 2 45801787 45801787 + Missense_Mutation SNP G A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr2:45801787G>A uc002rus.2 - 8 1224 c.1148C>T c.(1147-1149)ACG>ATG p.T383M NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 383 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) GAAGTCAAGCGTGTCTTTGTC 0.393 GALNT5 11227 broad.mit.edu 37 2 158165186 158165186 + Silent SNP A G G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr2:158165186A>G uc002tzg.2 + 9 2883 c.2628A>G c.(2626-2628)AGA>AGG p.R876R GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 876 Lumenal (Potential).|Ricin B-type lectin. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 GTGATAACAGAAACAAAGGGC 0.388 LY75 4065 broad.mit.edu 37 2 160755282 160755282 + Missense_Mutation SNP C A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr2:160755282C>A uc002ubc.3 - 2 452 c.383G>T c.(382-384)GGA>GTA p.G128V LY75_uc002ubb.3_Missense_Mutation_p.G128V|LY75_uc010fos.2_Missense_Mutation_p.G128V|LY75_uc010fot.1_Missense_Mutation_p.G128V NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 128 Extracellular (Potential).|Ricin B-type lectin. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) TGTGCCATGTCCATCCTTCAG 0.522 VIL1 7429 broad.mit.edu 37 2 219294359 219294359 + Silent SNP C T T rs148795202 TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr2:219294359C>T uc002via.2 + 8 875 c.810C>T c.(808-810)GTC>GTT p.V270V VIL1_uc010zke.1_5'UTR|VIL1_uc002vib.2_Silent_p.V270V|VIL1_uc002vic.1_Silent_p.V270V NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 270 Core.|Gelsolin-like 3. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGAGGGAAGTCGCCACACGGC 0.622 SPEG 10290 broad.mit.edu 37 2 220344732 220344732 + Missense_Mutation SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr2:220344732C>T uc010fwg.2 + 25 5212 c.5212C>T c.(5212-5214)CGG>TGG p.R1738W NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1738 Protein kinase 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCAGCAGGTGCGGATCTGTGA 0.572 D2HGDH 728294 broad.mit.edu 37 2 242681957 242681957 + Missense_Mutation SNP T C C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr2:242681957T>C uc002wce.1 + 4 631 c.458T>C c.(457-459)ATG>ACG p.M153T D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Missense_Mutation_p.M19T|D2HGDH_uc002wcg.1_RNA NM_152783 NP_689996 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase precursor 153 FAD-binding PCMH-type. 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) ACTGCCCGCATGAACCGGGTC 0.642 TNNC2 7125 broad.mit.edu 37 20 44453472 44453472 + Missense_Mutation SNP G A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr20:44453472G>A uc002xpr.2 - 2 71 c.5C>T c.(4-6)ACG>ATG p.T2M NM_003279 NP_003270 P02585 TNNC2_HUMAN fast skeletal muscle troponin C 2 TD -> DT (in Ref. 6; AA sequence). muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium ion binding upper_aerodigestive_tract(1) 1 Myeloproliferative disorder(115;0.0122) CTGCTGGTCCGTCTGCAGGAG 0.612 GOLGA4 2803 broad.mit.edu 37 3 37366849 37366849 + Missense_Mutation SNP G A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr3:37366849G>A uc003cgv.2 + 14 3776 c.3472G>A c.(3472-3474)GTT>ATT p.V1158I GOLGA4_uc010hgr.1_Missense_Mutation_p.V719I|GOLGA4_uc003cgw.2_Missense_Mutation_p.V1180I|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.V1039I NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 1158 Potential.|Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 AGAGCAGCTAGTTGAACTGAA 0.383 FAM86D 692099 broad.mit.edu 37 3 75475655 75475655 + Missense_Mutation SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr3:75475655C>T uc003dpp.3 - 7 942 c.583G>A c.(583-585)GTG>ATG p.V195M FAM86D_uc003dpo.3_RNA|FAM86D_uc003dps.3_RNA|FAM86D_uc003dpq.3_Missense_Mutation_p.V103M|FAM86D_uc003dpr.3_RNA NR_024241 RecName: Full=Protein FAM86B1; 0 GTAAAGGCCACGTAGACCTCA 0.647 CEP63 80254 broad.mit.edu 37 3 134225989 134225989 + Missense_Mutation SNP T C C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr3:134225989T>C uc003eqo.1 + 4 532 c.83T>C c.(82-84)CTC>CCC p.L28P CEP63_uc003eql.1_Missense_Mutation_p.L28P|CEP63_uc003eqm.2_Missense_Mutation_p.L28P|CEP63_uc003eqn.1_Missense_Mutation_p.L28P NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 28 Potential. cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding ovary(1) 1 CTACAGGAGCTCATGAAACAG 0.363 HTR3D 200909 broad.mit.edu 37 3 183756271 183756271 + Missense_Mutation SNP C A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr3:183756271C>A uc011bqv.1 + 7 994 c.994C>A c.(994-996)CAC>AAC p.H332N HTR3D_uc003fmj.2_Missense_Mutation_p.H157N|HTR3D_uc011bqu.1_Missense_Mutation_p.H282N|HTR3D_uc010hxp.2_Missense_Mutation_p.H111N NM_001163646 NP_001157118 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine receptor 3 subunit D isoform 332 Cytoplasmic (Potential). integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity 0 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCACCTGCTGCACGTGGCCAC 0.652 TRIML2 205860 broad.mit.edu 37 4 189018255 189018255 + Silent SNP G A A rs144128750 TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr4:189018255G>A uc003izl.2 - 6 591 c.555C>T c.(553-555)TGC>TGT p.C185C TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Silent_p.C260C NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 185 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CTCTTATGTGGCATAAACTCA 0.493 HCN1 348980 broad.mit.edu 37 5 45262592 45262592 + Missense_Mutation SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr5:45262592C>T uc003jok.2 - 8 2129 c.2104G>A c.(2104-2106)GCG>ACG p.A702T NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 702 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CTGCAGACCGCGGTGGTGTAG 0.592 RGNEF 64283 broad.mit.edu 37 5 73048878 73048878 + Missense_Mutation SNP G A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr5:73048878G>A uc011csq.1 + 3 337 c.326G>A c.(325-327)CGC>CAC p.R109H RGNEF_uc003kcx.2_Missense_Mutation_p.R109H|RGNEF_uc003kcy.1_Missense_Mutation_p.R109H|RGNEF_uc010izf.2_Missense_Mutation_p.R109H NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Rho-guanine nucleotide exchange factor 109 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding 0 Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) CAGGCCAATCGCCTCACAGCC 0.617 FBXO38 81545 broad.mit.edu 37 5 147807459 147807459 + Missense_Mutation SNP C A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr5:147807459C>A uc003lpf.1 + 15 2722 c.2602C>A c.(2602-2604)CTA>ATA p.L868I FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 868 cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGAGGCCCCTAACCAGGGC 0.562 FOXI1 2299 broad.mit.edu 37 5 169535162 169535162 + Silent SNP C A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr5:169535162C>A uc003mai.3 + 2 729 c.684C>A c.(682-684)TCC>TCA p.S228S FOXI1_uc003maj.3_Intron NM_012188 NP_036320 Q12951 FOXI1_HUMAN forkhead box I1 isoform a 228 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCACAGCCTCCTTGGCCTTAG 0.532 Pendred_syndrome DAXX 1616 broad.mit.edu 37 6 33286946 33286946 + Missense_Mutation SNP C A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr6:33286946C>A uc003oec.2 - 7 2195 c.1991G>T c.(1990-1992)TGT>TTT p.C664F ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Missense_Mutation_p.C589F|DAXX_uc011dre.1_Missense_Mutation_p.C676F|DAXX_uc003oed.2_Missense_Mutation_p.C664F NM_001350 NP_001341 Q9UER7 DAXX_HUMAN death-domain associated protein isoform a 664 Interaction with SPOP. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding pancreas(18)|ovary(2)|skin(2)|prostate(1) 23 GGGCAGGGTACATATCTTTTT 0.542 Mis|F|N Pancreatic neuroendocrine tumors IP6K3 117283 broad.mit.edu 37 6 33690701 33690701 + Silent SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr6:33690701C>T uc010jvf.2 - 7 1565 c.1029G>A c.(1027-1029)CCG>CCA p.P343P IP6K3_uc003ofb.2_Silent_p.P343P NM_001142883 NP_001136355 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 343 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity 0 CGTGAGGATGCGGGCTGCCTG 0.552 ABCB5 340273 broad.mit.edu 37 7 20782599 20782599 + Nonsense_Mutation SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr7:20782599C>T uc003suw.3 + 16 2335 c.1789C>T c.(1789-1791)CGA>TGA p.R597* ABCB5_uc010kuh.2_Nonsense_Mutation_p.R1042* NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 597 Cytoplasmic (Potential).|ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 CAGTATTGAGCGAGGAAAGAC 0.483 C7orf60 154743 broad.mit.edu 37 7 112461814 112461814 + Missense_Mutation SNP T C C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr7:112461814T>C uc003vgo.1 - 5 1330 c.1203A>G c.(1201-1203)ATA>ATG p.I401M C7orf60_uc011kms.1_Missense_Mutation_p.I427M NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 401 ovary(2)|skin(1) 3 TTAAAAGTAATATGGGGTCTT 0.358 PPP1R3A 5506 broad.mit.edu 37 7 113518832 113518832 + Missense_Mutation SNP G A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr7:113518832G>A uc010ljy.1 - 4 2346 c.2315C>T c.(2314-2316)GCG>GTG p.A772V NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 772 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TGGATCAAACGCTGTTTCCTT 0.403 OR2A1 346528 broad.mit.edu 37 7 144015510 144015510 + Missense_Mutation SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr7:144015510C>T uc011kud.1 + 1 275 c.275C>T c.(274-276)ACG>ATG p.T92M OR2A9P_uc003wec.1_Intron NM_001001802 NP_001001802 Q8NGT9 OR2A1_HUMAN olfactory receptor, family 2, subfamily A, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.14) GGCTGCATGACGCAGACCTTT 0.577 GIMAP1 170575 broad.mit.edu 37 7 150417468 150417468 + Missense_Mutation SNP G A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr7:150417468G>A uc003whq.2 + 3 463 c.376G>A c.(376-378)GCC>ACC p.A126T GIMAP1_uc003whp.2_Missense_Mutation_p.A134T NM_130759 NP_570115 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 126 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane GTP binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCGGTTCACCGCCCAGGACCA 0.637 FAM110B 90362 broad.mit.edu 37 8 59059573 59059573 + Missense_Mutation SNP G C C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr8:59059573G>C uc003xtj.1 + 5 1664 c.784G>C c.(784-786)GAC>CAC p.D262H NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 262 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) GTCTAAGTCAGACTTGAGTGA 0.562 ZFHX4 79776 broad.mit.edu 37 8 77768255 77768255 + Nonsense_Mutation SNP C G G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr8:77768255C>G uc003yav.2 + 10 9350 c.8963C>G c.(8962-8964)TCA>TGA p.S2988* ZFHX4_uc003yau.1_Nonsense_Mutation_p.S3033*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.S2988* NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2988 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGCACATTTCAAAAGTGAGG 0.537 HNSCC(33;0.089) FAM83H 286077 broad.mit.edu 37 8 144808629 144808629 + Missense_Mutation SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr8:144808629C>T uc003yzk.2 - 5 3071 c.3002G>A c.(3001-3003)CGT>CAT p.R1001H FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 1001 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CAGTGACAGACGCCGCGGGCT 0.697 PIP5K1B 8395 broad.mit.edu 37 9 71509330 71509330 + Missense_Mutation SNP A G G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr9:71509330A>G uc004agu.2 + 8 852 c.547A>G c.(547-549)ATC>GTC p.I183V PIP5K1B_uc011lrq.1_Missense_Mutation_p.I183V|PIP5K1B_uc004agv.2_RNA NM_003558 NP_003549 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 183 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding stomach(1) 1 Lung(182;0.133) AGGCATTAATATCAGGATTGT 0.373 C9orf79 286234 broad.mit.edu 37 9 90501883 90501883 + Silent SNP C G G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chr9:90501883C>G uc004app.3 + 4 2516 c.2481C>G c.(2479-2481)CTC>CTG p.L827L C9orf79_uc004apo.1_Silent_p.L639L NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 827 integral to membrane ovary(3) 3 TTTCCTTCCTCCATCCCTGCA 0.562 MXRA5 25878 broad.mit.edu 37 X 3240193 3240193 + Missense_Mutation SNP T C C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:3240193T>C uc004crg.3 - 5 3690 c.3533A>G c.(3532-3534)GAG>GGG p.E1178G NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1178 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) AGAAAAAGTCTCTGATGGGGC 0.488 RAI2 10742 broad.mit.edu 37 X 17818870 17818870 + Missense_Mutation SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:17818870C>T uc004cyf.2 - 3 1831 c.1261G>A c.(1261-1263)GAA>AAA p.E421K RAI2_uc004cyg.2_Missense_Mutation_p.E421K|RAI2_uc010nfa.2_Missense_Mutation_p.E421K|RAI2_uc004cyh.3_Missense_Mutation_p.E421K|RAI2_uc011miy.1_Missense_Mutation_p.E371K NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 421 embryo development ovary(1)|breast(1) 2 Hepatocellular(33;0.183) GCCTTGACTTCGCCGCTGGGG 0.567 KLHL34 257240 broad.mit.edu 37 X 21675213 21675213 + Missense_Mutation SNP C G G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:21675213C>G uc004czz.1 - 1 1236 c.694G>C c.(694-696)GTA>CTA p.V232L NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 232 BACK. ovary(1) 1 CGCCGCAGTACGTCGGCGGGA 0.667 DUSP21 63904 broad.mit.edu 37 X 44703624 44703624 + Silent SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:44703624C>T uc004dgd.2 + 1 376 c.246C>T c.(244-246)TAC>TAT p.Y82Y NM_022076 NP_071359 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 82 Tyrosine-protein phosphatase.|Sufficient for mitochondrial localization (By similarity). cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1) 2 CGCGTCTCTACGACTTTTTTG 0.542 EDA2R 60401 broad.mit.edu 37 X 65819404 65819404 + Silent SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:65819404C>T uc004dwq.2 - 5 827 c.816G>A c.(814-816)GAG>GAA p.E272E EDA2R_uc004dwr.2_Intron|EDA2R_uc004dws.2_Silent_p.E272E|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_Silent_p.E148E|EDA2R_uc010nkt.1_Silent_p.E272E|EDA2R_uc004dwt.1_Silent_p.E293E NM_021783 NP_068555 Q9HAV5 TNR27_HUMAN X-linked ectodysplasin receptor 272 Cytoplasmic (Potential). cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity upper_aerodigestive_tract(1) 1 CCCCCAAGGTCTCAGCTCCAG 0.547 PCDH11X 27328 broad.mit.edu 37 X 91873723 91873723 + Silent SNP C A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:91873723C>A uc004efk.1 + 7 4673 c.3828C>A c.(3826-3828)GTC>GTA p.V1276V PCDH11X_uc004efl.1_Silent_p.V1266V|PCDH11X_uc004efo.1_Silent_p.V1239V|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Silent_p.V1268V|PCDH11X_uc004efn.1_Silent_p.V1258V NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1276 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 AATCATCAGTCAGTTTGCAGC 0.517 CSTF2 1478 broad.mit.edu 37 X 100075435 100075435 + Silent SNP G T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:100075435G>T uc004egh.2 + 1 88 c.30G>T c.(28-30)GCG>GCT p.A10A CSTF2_uc010nnd.2_Silent_p.A10A|CSTF2_uc004egi.2_Silent_p.A10A NM_001325 NP_001316 P33240 CSTF2_HUMAN cleavage stimulation factor subunit 2 10 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|protein binding|RNA binding skin(1) 1 GAGACCCAGCGGTGGATCGTT 0.562 TEX13B 56156 broad.mit.edu 37 X 107224498 107224498 + Missense_Mutation SNP C G G TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:107224498C>G uc004enn.1 - 3 844 c.751G>C c.(751-753)GTC>CTC p.V251L NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 251 ovary(1) 1 AGAAGACAGACATGGCTGTTT 0.552 TRPC5 7224 broad.mit.edu 37 X 111020072 111020072 + Silent SNP G A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:111020072G>A uc004epl.1 - 11 3310 c.2391C>T c.(2389-2391)GTC>GTT p.V797V NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 797 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 AATTAAAAGAGACACTCTTGG 0.483 AFF2 2334 broad.mit.edu 37 X 148059892 148059892 + Silent SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:148059892C>T uc004fcp.2 + 18 3956 c.3477C>T c.(3475-3477)TGC>TGT p.C1159C AFF2_uc004fcq.2_Silent_p.C1149C|AFF2_uc004fcr.2_Silent_p.C1120C|AFF2_uc011mxb.1_Silent_p.C1124C|AFF2_uc004fcs.2_Silent_p.C1124C|AFF2_uc011mxc.1_Silent_p.C800C NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 1159 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) ATCACCACAGCTACCGATGTT 0.378 MTMR1 8776 broad.mit.edu 37 X 149931076 149931076 + Silent SNP C A A TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:149931076C>A uc004fei.2 + 15 2007 c.1872C>A c.(1870-1872)GTC>GTA p.V624V MTMR1_uc011mya.1_Silent_p.V530V|MTMR1_uc004feh.1_Silent_p.V632V|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron NM_003828 NP_003819 Q13613 MTMR1_HUMAN myotubularin-related protein 1 624 plasma membrane protein tyrosine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TGCTGGCCGTCAGGGCGGAGC 0.627 ABCD1 215 broad.mit.edu 37 X 153008746 153008746 + Missense_Mutation SNP C T T TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx c8d06abf-437d-4bc9-804b-44345af74f36 7acdfba8-5a3c-4192-923e-1b0c6a34cf91 g.chrX:153008746C>T uc004fif.2 + 9 2336 c.1937C>T c.(1936-1938)GCG>GTG p.A646V ABCD1_uc004fig.2_Missense_Mutation_p.A146V|ABCD1_uc004fih.2_RNA NM_000033 NP_000024 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 646 ABC transporter. A -> P (in X-ALD). fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATCTTCCAGGCGGCCAAGGAC 0.672