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 GNB1 2782 broad.mit.edu 37 1 1720568 1720568 + Missense_Mutation SNP C A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr1:1720568C>A uc001aif.2 - 10 1172 c.840G>T c.(838-840)AAG>AAT p.K280N GNB1_uc009vky.2_Missense_Mutation_p.K180N NM_002074 NP_002065 P62873 GBB1_HUMAN guanine nucleotide-binding protein, beta-1 280 WD 6. cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission heterotrimeric G-protein complex GTPase activity|GTPase binding|signal transducer activity 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236) GGCGCCCGCTCTTGGAGAAGG 0.587 OREG0012998 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CHD5 26038 broad.mit.edu 37 1 6206730 6206730 + Missense_Mutation SNP G C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr1:6206730G>C uc001amb.1 - 10 1685 c.1585C>G c.(1585-1587)CTA>GTA p.L529V CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 529 Chromo 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CTCACCTGTAGCTCCTTCACC 0.647 CLCNKB 1188 broad.mit.edu 37 1 16377396 16377396 + Silent SNP G A A rs140705060 TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr1:16377396G>A uc001axw.3 + 12 1160 c.1080G>A c.(1078-1080)TCG>TCA p.S360S FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.S360S|CLCNKB_uc001axy.3_Silent_p.S191S NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 360 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity skin(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) ATCTGGACTCGCTGTTCGACA 0.667 PTAFR 5724 broad.mit.edu 37 1 28477001 28477001 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr1:28477001C>T uc001bpl.2 - 2 659 c.532G>A c.(532-534)GAG>AAG p.E178K PTAFR_uc001bpm.3_Missense_Mutation_p.E178K|PTAFR_uc009vte.2_Missense_Mutation_p.E178K NM_000952 NP_000943 P25105 PTAFR_HUMAN platelet-activating factor receptor 178 Extracellular (Potential). chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) CTGCCCTTCTCGTAATGCTCA 0.542 SLC44A5 204962 broad.mit.edu 37 1 75708695 75708695 + Missense_Mutation SNP A G G rs148670291 TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr1:75708695A>G uc001dgu.2 - 8 491 c.347T>C c.(346-348)ATC>ACC p.I116T SLC44A5_uc001dgt.2_Missense_Mutation_p.I116T|SLC44A5_uc001dgs.2_Missense_Mutation_p.I74T|SLC44A5_uc001dgr.2_Missense_Mutation_p.I74T|SLC44A5_uc010oqz.1_Missense_Mutation_p.I155T|SLC44A5_uc010ora.1_Missense_Mutation_p.I110T|SLC44A5_uc010orb.1_5'UTR NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 116 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 GGAGACACAGATCTGTGAACG 0.383 LRRC8C 84230 broad.mit.edu 37 1 90179098 90179098 + Silent SNP T C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr1:90179098T>C uc001dnl.3 + 3 1211 c.969T>C c.(967-969)TAT>TAC p.Y323Y NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member 323 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) CCTTTTGCTATCTGTGCTTTG 0.408 ABCA4 24 broad.mit.edu 37 1 94508933 94508933 + Missense_Mutation SNP C T T rs61750062 TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr1:94508933C>T uc001dqh.2 - 21 3253 c.3149G>A c.(3148-3150)GGC>GAC p.G1050D NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1050 Cytoplasmic.|ABC transporter 1. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GTGGTGGAGGCCTGTGTCCTC 0.582 POU2F1 5451 broad.mit.edu 37 1 167353107 167353107 + Silent SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr1:167353107G>A uc001gec.2 + 9 825 c.663G>A c.(661-663)GCG>GCA p.A221A POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Silent_p.A219A|POU2F1_uc001gee.2_Silent_p.A221A|POU2F1_uc010plh.1_Silent_p.A158A|POU2F1_uc001gef.2_Silent_p.A233A|POU2F1_uc001geg.2_Silent_p.A119A NM_002697 NP_002688 P14859 PO2F1_HUMAN POU class 2 homeobox 1 221 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|skin(2)|breast(1) 5 TCCTGCAAGCGCAAAATCTTC 0.438 IVNS1ABP 10625 broad.mit.edu 37 1 185267320 185267320 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr1:185267320C>T uc001grl.2 - 15 2399 c.1776G>A c.(1774-1776)ATG>ATA p.M592I IVNS1ABP_uc001gri.2_Missense_Mutation_p.M252I|IVNS1ABP_uc001grj.2_Missense_Mutation_p.M252I|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.M374I|IVNS1ABP_uc009wyk.2_RNA NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 592 Kelch 5. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 TTGGTGAAGTCATATTTCCCA 0.423 REN 5972 broad.mit.edu 37 1 204130489 204130489 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr1:204130489C>T uc001haq.2 - 3 348 c.304G>A c.(304-306)GTC>ATC p.V102I NM_000537 NP_000528 P00797 RENI_HUMAN renin preproprotein 102 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity skin(3)|central_nervous_system(1) 4 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) GTGTCAAAGACGACTTTGAAG 0.582 HSD11B1 3290 broad.mit.edu 37 1 209880164 209880164 + Frame_Shift_Del DEL G - - TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr1:209880164delG uc001hhj.2 + 4 437 c.330delG c.(328-330)ATGfs p.M110fs HSD11B1_uc001hhk.2_Frame_Shift_Del_p.M110fs NM_181755 NP_861420 P28845 DHI1_HUMAN 11-beta-hydroxysteroid dehydrogenase 1 110 Lumenal (Potential). glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) GAAAGCTCATGGGTGAGGCTG 0.517 OR2T4 127074 broad.mit.edu 37 1 248525116 248525116 + Silent SNP C A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr1:248525116C>A uc001ieh.1 + 1 234 c.234C>A c.(232-234)ATC>ATA p.I78I NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 78 Helical; Name=1; (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) CTGTCCTGATCCTTCTGATAC 0.473 OR14I1 401994 broad.mit.edu 37 1 248844752 248844752 + Missense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr1:248844752G>A uc001ieu.1 - 1 854 c.854C>T c.(853-855)CCC>CTC p.P285L NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 285 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATATATGATGGGATTGAGGAA 0.403 ANKRD30A 91074 broad.mit.edu 37 10 37486209 37486209 + Missense_Mutation SNP A G G TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr10:37486209A>G uc001iza.1 + 28 2546 c.2447A>G c.(2446-2448)GAG>GGG p.E816G NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 872 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 TGCTTTTTAGAGCCTCCCGAG 0.338 ARID5B 84159 broad.mit.edu 37 10 63816874 63816874 + Splice_Site SNP A C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr10:63816874A>C uc001jlt.1 + 6 873 c.847_splice c.e6-2 p.V283_splice ARID5B_uc001jlu.1_Splice_Site_p.V40_splice NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) TCCCTTTTCCAGGTGAAATGT 0.448 PTEN 5728 broad.mit.edu 37 10 89717664 89717664 + Missense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr10:89717664G>A uc001kfb.2 + 8 1720 c.689G>A c.(688-690)GGA>GAA p.G230E NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 230 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.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.P231fs*12(1)|p.G230fs*26(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.G230E(1)|p.G230R(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) TCCAATTCAGGACCCACACGA 0.428 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) PDCD4 27250 broad.mit.edu 37 10 112655708 112655708 + Silent SNP T C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr10:112655708T>C uc001kzh.2 + 11 1455 c.1212T>C c.(1210-1212)GGT>GGC p.G404G PDCD4_uc001kzg.2_Silent_p.G393G|PDCD4_uc010qre.1_Silent_p.G390G NM_014456 NP_055271 Q53EL6 PDCD4_HUMAN programmed cell death 4 isoform 1 404 MI 2. apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding ovary(1)|breast(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) TGTTGTAGGGTTATGAGAGAA 0.353 USP47 55031 broad.mit.edu 37 11 11969542 11969542 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr11:11969542C>T uc001mjs.2 + 21 3905 c.3142C>T c.(3142-3144)CAT>TAT p.H1048Y USP47_uc001mjr.2_Missense_Mutation_p.H980Y|USP47_uc009ygi.2_5'Flank NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 1068 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) TTTCAAACAACATTTAGAGCC 0.398 RTN3 10313 broad.mit.edu 37 11 63487657 63487657 + Silent SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr11:63487657C>T uc001nxq.2 + 3 1870 c.1683C>T c.(1681-1683)GAC>GAT p.D561D RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Silent_p.D542D|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Silent_p.D449D|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 561 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 TGGTCAGTGACTCTGAGCTGC 0.408 SLC22A20 440044 broad.mit.edu 37 11 64990066 64990067 + Missense_Mutation DNP AG GT GT TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr11:64990066_64990067AG>GT uc010roc.1 + 6 929_930 c.926_927AG>GT c.(925-927)GAG>GGT p.E309G SLC22A20_uc010rob.1_Missense_Mutation_p.G253C NM_001004326 NP_001004326 A6NK97 S22AK_HUMAN solute carrier family 22, member 20 309 Cytoplasmic (Potential). ion transport integral to membrane transmembrane transporter activity central_nervous_system(1) 1 CTGACCAAGGAGGTAAGCGAGC 0.545 CDC42EP2 10435 broad.mit.edu 37 11 65088799 65088799 + Nonsense_Mutation SNP G T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr11:65088799G>T uc001odl.2 + 2 880 c.430G>T c.(430-432)GAG>TAG p.E144* NM_006779 NP_006770 O14613 BORG1_HUMAN Cdc42 effector protein 2 144 actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity 0 TTCCCCACAGGAGGGAGGGAG 0.667 C1S 716 broad.mit.edu 37 12 7177423 7177423 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr12:7177423C>T uc001qsj.2 + 15 2254 c.1535C>T c.(1534-1536)CCG>CTG p.P512L C1S_uc001qsk.2_Missense_Mutation_p.P512L|C1S_uc001qsl.2_Missense_Mutation_p.P512L|C1S_uc009zfr.2_Missense_Mutation_p.P345L|C1S_uc009zfs.2_RNA NM_201442 NP_958850 P09871 C1S_HUMAN complement component 1, s subcomponent 512 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity skin(1) 1 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TTTATTCATCCGGGATGGAAG 0.512 C12orf63 374467 broad.mit.edu 37 12 97087506 97087506 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr12:97087506C>T uc001tet.1 + 12 1624 c.1546C>T c.(1546-1548)CCT>TCT p.P516S NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 516 skin(6)|ovary(1) 7 ATAGGTTCTGCCTCTCCTTGC 0.289 SELPLG 6404 broad.mit.edu 37 12 109017719 109017719 + Missense_Mutation SNP T C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr12:109017719T>C uc001tni.2 - 2 525 c.365A>G c.(364-366)CAG>CGG p.Q122R SELPLG_uc001tnh.2_Missense_Mutation_p.Q122R|SELPLG_uc010sxe.1_Missense_Mutation_p.Q138R NM_003006 NP_002997 Q14242 SELPL_HUMAN selectin P ligand 122 1.|Extracellular (Potential).|12 X 10 AA tandem repeats. blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding 0 TTGAGTGGTCTGTATCTCCAT 0.602 TPCN1 53373 broad.mit.edu 37 12 113729743 113729743 + Missense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr12:113729743G>A uc001tuw.2 + 25 2390 c.2093G>A c.(2092-2094)CGC>CAC p.R698H TPCN1_uc001tux.2_Missense_Mutation_p.R770H|TPCN1_uc010syu.1_5'Flank NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 698 Cytoplasmic (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 AACTACAGCCGCAAGAACCAG 0.498 KSR2 283455 broad.mit.edu 37 12 118198974 118198974 + Silent SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr12:118198974C>T uc001two.2 - 4 796 c.741G>A c.(739-741)ACG>ACA p.T247T NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 276 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCATGGGCGGCGTGCCCGGCG 0.706 CLIP1 6249 broad.mit.edu 37 12 122803873 122803873 + Missense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr12:122803873G>A uc001ucg.1 - 17 3378 c.3272C>T c.(3271-3273)GCC>GTC p.A1091V CLIP1_uc001uch.1_Missense_Mutation_p.A1080V|CLIP1_uc001uci.1_Missense_Mutation_p.A1045V|CLIP1_uc001ucj.1_Missense_Mutation_p.A666V NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 1091 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TATCTGCATGGCATCTTCCGC 0.478 EP400 57634 broad.mit.edu 37 12 132527862 132527862 + Missense_Mutation SNP T A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr12:132527862T>A uc001ujn.2 + 32 6256 c.6221T>A c.(6220-6222)ATT>AAT p.I2074N EP400_uc001ujl.2_Missense_Mutation_p.I2073N|EP400_uc001ujm.2_Missense_Mutation_p.I1993N NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2110 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CTCAAGAGTATTGAGTATCTG 0.463 SLC15A1 6564 broad.mit.edu 37 13 99356577 99356577 + Missense_Mutation SNP G A A rs141206459 TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr13:99356577G>A uc001vno.2 - 17 1459 c.1382C>T c.(1381-1383)ACG>ATG p.T461M NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 461 Extracellular (Potential). digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity ovary(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) CACTAGAAGCGTGTGGCGTTG 0.453 OR11H12 440153 broad.mit.edu 37 14 19378103 19378103 + Missense_Mutation SNP G T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr14:19378103G>T uc010tkp.1 + 1 510 c.510G>T c.(508-510)TGG>TGT p.W170C NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 170 Helical; Name=4; (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) GATTTCTGTGGTTCCTGATCC 0.483 OR4Q3 441669 broad.mit.edu 37 14 20216022 20216022 + Missense_Mutation SNP G T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr14:20216022G>T uc010tkt.1 + 1 436 c.436G>T c.(436-438)GTT>TTT p.V146F NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCTTTGGTTGGTTCTTGCCTG 0.488 PABPN1 8106 broad.mit.edu 37 14 23777257 23777258 + Frame_Shift_Ins INS - C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr14:23777257_23777258insC uc001wjh.3 + 3 469_470 c.281_282insC c.(280-282)GGCfs p.G94fs BCL2L2_uc001wjg.3_Frame_Shift_Ins_p.G94fs|BCL2L2_uc001wji.3_Frame_Shift_Ins_p.G94fs NM_004643 NP_004634 Q86U42 PABP2_HUMAN poly(A) binding protein, nuclear 1 Error:Variant_position_missing_in_Q86U42_after_alignment modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle cytoplasm|nucleoplasm|ribonucleoprotein complex nucleotide binding|protein binding|RNA binding ovary(2) 2 all_cancers(95;6.69e-06) GBM - Glioblastoma multiforme(265;0.00643) CCCAACTGGGGCCGCCTTGTAG 0.574 KHNYN 23351 broad.mit.edu 37 14 24901649 24901649 + Silent SNP G C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr14:24901649G>C uc001wph.3 + 3 1384 c.1182G>C c.(1180-1182)CGG>CGC p.R394R KHNYN_uc010tpc.1_Silent_p.R435R|KHNYN_uc010alw.2_Silent_p.R394R|CBLN3_uc001wpg.3_5'Flank NM_015299 NP_056114 O15037 KHNYN_HUMAN hypothetical protein LOC23351 394 ovary(2)|liver(1) 3 GCATGGCACGGGGTCGGGGGC 0.667 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MARK3 4140 broad.mit.edu 37 14 103933475 103933475 + Missense_Mutation SNP A C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr14:103933475A>C uc001ymz.3 + 11 1723 c.1057A>C c.(1057-1059)AAA>CAA p.K353Q MARK3_uc001ymx.3_Missense_Mutation_p.K353Q|MARK3_uc001ymw.3_Missense_Mutation_p.K353Q|MARK3_uc001yna.3_Missense_Mutation_p.K353Q|MARK3_uc001ymy.3_Missense_Mutation_p.K274Q|MARK3_uc010awp.2_Missense_Mutation_p.K376Q|MARK3_uc010tyb.1_Missense_Mutation_p.K164Q NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 353 UBA. ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) TAGTAAGATGAAATACGATGA 0.328 C15orf2 23742 broad.mit.edu 37 15 24924482 24924482 + Silent SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr15:24924482G>A uc001ywo.2 + 1 3942 c.3468G>A c.(3466-3468)CCG>CCA p.P1156P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 1156 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) TCCAACTTCCGTAAGAGCACC 0.423 GRIN2A 2903 broad.mit.edu 37 16 10032404 10032404 + Missense_Mutation SNP G A A rs142566406 TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr16:10032404G>A uc002czo.3 - 3 967 c.419C>T c.(418-420)CCG>CTG p.P140L GRIN2A_uc010uym.1_Missense_Mutation_p.P140L|GRIN2A_uc010uyn.1_5'UTR|GRIN2A_uc002czr.3_Missense_Mutation_p.P140L NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 140 Extracellular (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) GGTAGACGTCGGATCCTGCCA 0.478 MYH11 4629 broad.mit.edu 37 16 15811149 15811149 + Missense_Mutation SNP C G G TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr16:15811149C>G uc002ddy.2 - 38 5459 c.5352G>C c.(5350-5352)GAG>GAC p.E1784D MYH11_uc002ddv.2_Missense_Mutation_p.E1791D|MYH11_uc002ddw.2_Missense_Mutation_p.E1784D|MYH11_uc002ddx.2_Missense_Mutation_p.E1791D|MYH11_uc010bvg.2_Missense_Mutation_p.E1616D|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.E490D NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1784 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 GCCGGGCACTCTCATTCTTCT 0.647 T CBFB AML DNAH3 55567 broad.mit.edu 37 16 20952865 20952865 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr16:20952865C>T uc010vbe.1 - 59 11512 c.11512G>A c.(11512-11514)GAA>AAA p.E3838K DNAH3_uc010vbd.1_Missense_Mutation_p.E1273K NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3838 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) TCAACCACTTCCTTAAAATGC 0.453 OTOA 146183 broad.mit.edu 37 16 21698929 21698929 + Missense_Mutation SNP C T T rs148114778 TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr16:21698929C>T uc002djh.2 + 7 596 c.595C>T c.(595-597)CGG>TGG p.R199W uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.R120W NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 199 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) CATCACAGAGCGGCTCCCTCG 0.473 SETD1A 9739 broad.mit.edu 37 16 30975479 30975479 + Missense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr16:30975479G>A uc002ead.1 + 6 1390 c.704G>A c.(703-705)GGC>GAC p.G235D SETD1A_uc002eae.1_Missense_Mutation_p.G235D NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 ACTGCGGTGGGCACTCCTGGC 0.627 ARHGEF15 22899 broad.mit.edu 37 17 8219094 8219094 + Silent SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr17:8219094C>T uc002glc.2 + 8 1564 c.1443C>T c.(1441-1443)TCC>TCT p.S481S ARHGEF15_uc002gld.2_Silent_p.S481S|ARHGEF15_uc010vuw.1_Silent_p.S370S NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 481 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CGCTCCTGTCCCGTGTGCGCT 0.582 RNF112 7732 broad.mit.edu 37 17 19316608 19316608 + Missense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr17:19316608G>A uc010vyw.1 + 5 803 c.604G>A c.(604-606)GGC>AGC p.G202S RNF112_uc010vyu.1_3'UTR|RNF112_uc010vyv.1_Missense_Mutation_p.G202S|RNF112_uc010vyx.1_Missense_Mutation_p.G85S NM_007148 NP_009079 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 202 GTP binding|GTPase activity|zinc ion binding ovary(2) 2 TGGTGAGGGCGGCCGGCCAAG 0.652 KRT37 8688 broad.mit.edu 37 17 39580498 39580498 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr17:39580498C>T uc002hwp.1 - 1 325 c.278G>A c.(277-279)GGG>GAG p.G93E uc002hwo.1_RNA NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 93 Head. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) GCCGTAGGCCCCACAGATTCC 0.602 TRIM65 201292 broad.mit.edu 37 17 73887344 73887344 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr17:73887344C>T uc002jpx.2 - 6 1106 c.1070G>A c.(1069-1071)CGT>CAT p.R357H NM_173547 NP_775818 Q6PJ69 TRI65_HUMAN tripartite motif-containing 65 357 B30.2/SPRY. intracellular zinc ion binding 0 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CCGGGACTGACGACAGTGCTT 0.627 SMCHD1 23347 broad.mit.edu 37 18 2770043 2770044 + Frame_Shift_Del DEL CA - - TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr18:2770043_2770044delCA uc002klm.3 + 39 5092_5093 c.4903_4904delCA c.(4903-4905)CAGfs p.Q1635fs SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 1635 chromosome organization ATP binding 0 CCAATTATCTCAGTCTATTGTT 0.277 ZNF519 162655 broad.mit.edu 37 18 14105942 14105942 + Silent SNP A G G TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr18:14105942A>G uc002kst.1 - 3 750 c.597T>C c.(595-597)CCT>CCC p.P199P ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron NM_145287 NP_660330 Q8TB69 ZN519_HUMAN zinc finger protein 519 199 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGATATTTTCAGGGAAAATAA 0.284 ELP2 55250 broad.mit.edu 37 18 33740957 33740957 + Nonsense_Mutation SNP C G G TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr18:33740957C>G uc002kzk.1 + 17 1761 c.1751C>G c.(1750-1752)TCA>TGA p.S584* ELP2_uc010xcg.1_Nonsense_Mutation_p.S649*|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Nonsense_Mutation_p.S558*|ELP2_uc010xch.1_Nonsense_Mutation_p.S579*|ELP2_uc002kzn.1_Nonsense_Mutation_p.S514*|ELP2_uc002kzo.1_Nonsense_Mutation_p.S514* NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 584 WD 10. regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 CTGCTTGCCTCAGCTTGTAAG 0.363 RTTN 25914 broad.mit.edu 37 18 67684705 67684705 + Frame_Shift_Del DEL G - - TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr18:67684705delG uc002lkp.2 - 46 6427 c.6359delC c.(6358-6360)CCTfs p.P2120fs RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Frame_Shift_Del_p.P1208fs|RTTN_uc002lkn.2_Frame_Shift_Del_p.P110fs|RTTN_uc010dqp.2_Frame_Shift_Del_p.P372fs NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 2120 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) GATAAGAAGAGGCAATAAAGG 0.388 RTTN 25914 broad.mit.edu 37 18 67871471 67871471 + Missense_Mutation SNP T C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr18:67871471T>C uc002lkp.2 - 3 316 c.248A>G c.(247-249)GAC>GGC p.D83G RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.D83G NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 83 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) TGCACCAACGTCAACCAAATG 0.388 NFATC1 4772 broad.mit.edu 37 18 77246687 77246687 + Silent SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr18:77246687C>T uc010xfg.1 + 9 2985 c.2532C>T c.(2530-2532)CCC>CCT p.P844P NFATC1_uc002lnd.2_Intron|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Silent_p.P372P|NFATC1_uc002lnf.2_Silent_p.P831P|NFATC1_uc002lng.2_Intron|NFATC1_uc010xfk.1_Intron NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 844 Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CGCTCTGCCCCAGCAGCCCCT 0.751 PQLC1 80148 broad.mit.edu 37 18 77679330 77679330 + Silent SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr18:77679330C>T uc002lnl.2 - 5 634 c.462G>A c.(460-462)ACG>ACA p.T154T PQLC1_uc010dre.2_Silent_p.T71T|PQLC1_uc002lnk.2_Silent_p.T136T|PQLC1_uc010xfm.1_Intron NM_025078 NP_079354 Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 isoform 1 154 Helical; (Potential). integral to membrane large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0212)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258) CCGCCACGCCCGTGAAGGCCA 0.627 FBN3 84467 broad.mit.edu 37 19 8176044 8176044 + Missense_Mutation SNP C T T rs117092804 by1000genomes TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr19:8176044C>T uc002mjf.2 - 32 4129 c.4108G>A c.(4108-4110)GTG>ATG p.V1370M NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1370 EGF-like 21; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CAGAGGTCCACGTTCTCGGCA 0.657 FBN3 84467 broad.mit.edu 37 19 8201272 8201272 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr19:8201272C>T uc002mjf.2 - 10 1366 c.1345G>A c.(1345-1347)GAT>AAT p.D449N NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 449 EGF-like 4; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CGCGGCTCACCAATGCACTCG 0.652 RDH8 50700 broad.mit.edu 37 19 10131987 10131987 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr19:10131987C>T uc002mmr.2 + 5 842 c.593C>T c.(592-594)GCG>GTG p.A198V NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 198 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) AAGCTTCTGGCGCAGGTTTCT 0.602 OR10H5 284433 broad.mit.edu 37 19 15905052 15905052 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr19:15905052C>T uc010xos.1 + 1 194 c.194C>T c.(193-195)GCC>GTC p.A65V NM_001004466 NP_001004466 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTCCTGTGTGCCCTCTCCATC 0.627 TMEM59L 25789 broad.mit.edu 37 19 18724803 18724803 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr19:18724803C>T uc002njy.3 + 2 380 c.293C>T c.(292-294)GCC>GTC p.A98V TMEM59L_uc010ebu.1_Missense_Mutation_p.A98V NM_012109 NP_036241 Q9UK28 TM59L_HUMAN brain-specific membrane-anchored protein 98 Golgi membrane|integral to membrane|membrane fraction ovary(2)|skin(2) 4 AAGCCCAATGCCACCCAAACT 0.652 TSHZ3 57616 broad.mit.edu 37 19 31767776 31767776 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr19:31767776C>T uc002nsy.3 - 2 2988 c.2923G>A c.(2923-2925)GTC>ATC p.V975I NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 975 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CAAAAGAAGACGGGGTGGCCA 0.512 RYR1 6261 broad.mit.edu 37 19 38990563 38990563 + Silent SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr19:38990563G>A uc002oit.2 + 45 7360 c.7230G>A c.(7228-7230)CCG>CCA p.P2410P RYR1_uc002oiu.2_Silent_p.P2410P|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2410 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTGAGGAACCGCCTGAAGAAA 0.632 PVRL2 5819 broad.mit.edu 37 19 45389216 45389216 + Frame_Shift_Del DEL A - - TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr19:45389216delA uc002ozw.1 + 7 1609 c.1219delA c.(1219-1221)AAGfs p.K407fs NM_001042724 NP_001036189 Q92692 PVRL2_HUMAN poliovirus receptor related 2 isoform delta 407 Cytoplasmic (Potential). adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TCCCTCCTACAAGCCACCAAC 0.483 FUT1 2523 broad.mit.edu 37 19 49253750 49253750 + Silent SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr19:49253750G>A uc002pkk.2 - 4 1764 c.789C>T c.(787-789)AAC>AAT p.N263N NM_000148 NP_000139 P19526 FUT1_HUMAN fucosyltransferase 1 263 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity ovary(1) 1 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) ACTCCATGCCGTTGCTGGTGA 0.617 ZNF528 84436 broad.mit.edu 37 19 52918768 52918768 + Silent SNP C G G TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr19:52918768C>G uc002pzh.2 + 7 1089 c.663C>G c.(661-663)GTC>GTG p.V221V ZNF528_uc002pzi.2_5'UTR NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN zinc finger protein 528 221 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) GTGGCAAGGTCTTTAGTTGCA 0.413 KIR2DS4 3809 broad.mit.edu 37 19 55349278 55349278 + Missense_Mutation SNP C A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr19:55349278C>A uc002qhm.1 + 3 364 c.318C>A c.(316-318)CAC>CAA p.H106Q KIR2DS4_uc010yfj.1_Missense_Mutation_p.H99Q|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.H106Q|KIR2DS4_uc002qhn.1_Missense_Mutation_p.H53Q NM_012314 NP_036446 P43632 KI2S4_HUMAN killer cell immunoglobulin-like receptor, two 106 Extracellular (Potential).|Ig-like C2-type 1. integral to plasma membrane receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) CTGTTCCTCACTCCCCCTATC 0.512 ZNF814 730051 broad.mit.edu 37 19 58385748 58385748 + Missense_Mutation SNP G A A rs145250945 TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr19:58385748G>A uc002qqo.2 - 3 1282 c.1010C>T c.(1009-1011)GCT>GTT p.A337V ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 337 C2H2-type 5. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 ACTGAAGCTAGCATATTTGCT 0.353 ZNF274 10782 broad.mit.edu 37 19 58723892 58723892 + Nonsense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr19:58723892C>T uc002qrq.1 + 10 1804 c.1345C>T c.(1345-1347)CGA>TGA p.R449* ZNF274_uc002qrr.1_Nonsense_Mutation_p.R417*|ZNF274_uc002qrs.1_Nonsense_Mutation_p.R344*|ZNF274_uc010eum.1_Nonsense_Mutation_p.R208* NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 449 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) TCCTAGAAAACGATTGCGCAA 0.428 NRXN1 9378 broad.mit.edu 37 2 50280492 50280492 + Missense_Mutation SNP T G G TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr2:50280492T>G uc010fbp.2 - 4 1657 c.850A>C c.(850-852)ACA>CCA p.T284P NRXN1_uc002rxb.3_Missense_Mutation_p.T1021P|NRXN1_uc010fbq.2_Missense_Mutation_p.T1389P|NRXN1_uc002rxe.3_Missense_Mutation_p.T1319P NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 284 Extracellular (Potential). angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ATAATTGATGTGGACATCTCT 0.502 LCT 3938 broad.mit.edu 37 2 136594490 136594490 + Missense_Mutation SNP T A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr2:136594490T>A uc002tuu.1 - 1 261 c.250A>T c.(250-252)ATC>TTC p.I84F NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 84 Extracellular (Potential). carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) TAATGGGTGATCTGACTGGCA 0.507 COBLL1 22837 broad.mit.edu 37 2 165551199 165551199 + Missense_Mutation SNP A T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr2:165551199A>T uc010zcw.1 - 15 3142 c.3018T>A c.(3016-3018)AAT>AAA p.N1006K COBLL1_uc002ucp.2_Missense_Mutation_p.N939K|COBLL1_uc002ucq.2_Missense_Mutation_p.N901K|COBLL1_uc010zcx.1_Missense_Mutation_p.N947K|COBLL1_uc002ucn.2_Missense_Mutation_p.N367K|COBLL1_uc002uco.2_Missense_Mutation_p.N670K NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 977 ovary(2)|pancreas(1) 3 CTGCCTCTTTATTTGTCAGTT 0.468 ZC3H15 55854 broad.mit.edu 37 2 187368763 187368763 + Missense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr2:187368763G>A uc002upo.2 + 6 764 c.539G>A c.(538-540)TGC>TAC p.C180Y NM_018471 NP_060941 Q8WU90 ZC3HF_HUMAN erythropoietin 4 immediate early response 180 C3H1-type 2. cytoplasm|nucleolus|plasma membrane nucleic acid binding|zinc ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233) CTATAGGTGTGCAAGCATTTC 0.438 CCDC150 284992 broad.mit.edu 37 2 197521487 197521487 + Nonsense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr2:197521487C>T uc002utp.1 + 3 442 c.307C>T c.(307-309)CGA>TGA p.R103* CCDC150_uc002uto.1_Nonsense_Mutation_p.R103*|CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 103 0 TCTGGTAAATCGAATGTGCCG 0.398 WFDC11 259239 broad.mit.edu 37 20 44278019 44278020 + Missense_Mutation DNP TT AA AA TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr20:44278019_44278020TT>AA uc002xpa.2 - 4 314_315 c.119_120AA>TT c.(118-120)GAA>GTT p.E40V NM_147197 NP_671730 Q8NEX6 WFD11_HUMAN WAP four-disulfide core domain 11 precursor 40 extracellular region 0 Myeloproliferative disorder(115;0.0122) CCCAGCATTCTTCAAGTAACAA 0.391 KRTAP6-2 337967 broad.mit.edu 37 21 31971188 31971188 + Silent SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr21:31971188G>A uc011adc.1 - 1 6 c.6C>T c.(4-6)TGC>TGT p.C2C KRTAP22-1_uc011add.1_5'Flank NM_181604 NP_853635 Q3LI66 KRA62_HUMAN keratin associated protein 6-2 2 intermediate filament 0 AGTAGCTGCCGCACATCGTGA 0.483 DSCR6 53820 broad.mit.edu 37 21 38380461 38380461 + Missense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr21:38380461G>A uc002yvv.2 + 2 319 c.109G>A c.(109-111)GCG>ACG p.A37T DSCR6_uc011aec.1_5'UTR|DSCR6_uc010gnd.2_5'UTR NM_018962 NP_061835 P57055 DSCR6_HUMAN Down syndrome critical region protein 6 37 nucleus breast(1) 1 Myeloproliferative disorder(46;0.0632) TTCCAGCCCCGCGCCGTGGCG 0.582 MCM3AP 8888 broad.mit.edu 37 21 47662773 47662773 + Missense_Mutation SNP A C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr21:47662773A>C uc002zir.1 - 25 5405 c.5369T>G c.(5368-5370)TTG>TGG p.L1790W MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.L285W|MCM3AP_uc002zip.1_Missense_Mutation_p.L531W|MCM3AP_uc002ziq.1_Missense_Mutation_p.L717W|MCM3APAS_uc002zis.1_Intron NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 1790 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) TTCCCACGACAAAGGAACATC 0.403 HSCB 150274 broad.mit.edu 37 22 29147228 29147228 + Splice_Site SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr22:29147228G>A uc003aea.2 + 5 610 c.569_splice c.e5-1 p.A190_splice NM_172002 NP_741999 Q8IWL3 HSC20_HUMAN J-type co-chaperone HSC20 precursor iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1) 1 TTCTTTTTCAGCTAAACAGAA 0.299 NEK10 152110 broad.mit.edu 37 3 27233608 27233608 + Missense_Mutation SNP T G G TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr3:27233608T>G uc010hfk.2 - 5 582 c.353A>C c.(352-354)GAA>GCA p.E118A NEK10_uc003cds.1_Missense_Mutation_p.E203A|NEK10_uc010hfj.2_Missense_Mutation_p.E118A Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 806 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 TCGTTCCCGTTCTAGCTTCTT 0.423 SLC22A14 9389 broad.mit.edu 37 3 38355344 38355344 + Silent SNP C G G TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr3:38355344C>G uc010hhc.1 + 8 1332 c.1290C>G c.(1288-1290)CTC>CTG p.L430L SLC22A14_uc003cib.2_Silent_p.L430L|SLC22A14_uc011ayo.1_RNA NM_004803 NP_004794 Q9Y267 S22AE_HUMAN organic cation transporter like 4 430 Helical; (Potential). integral to plasma membrane organic cation transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) GCATCTTTCTCCTCCAGCAGA 0.577 CDCP1 64866 broad.mit.edu 37 3 45153846 45153846 + Silent SNP A G G TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr3:45153846A>G uc003com.2 - 3 519 c.384T>C c.(382-384)GAT>GAC p.D128D CDCP1_uc003con.2_Silent_p.D128D NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN CUB domain-containing protein 1 isoform 1 128 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) GAGCTTTGACATCCCAGATGA 0.527 MYH15 22989 broad.mit.edu 37 3 108179152 108179152 + Missense_Mutation SNP G C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr3:108179152G>C uc003dxa.1 - 18 2044 c.1987C>G c.(1987-1989)CAT>GAT p.H663D NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 663 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 ATTACTTTATGCAGAGATGCA 0.299 GOLGB1 2804 broad.mit.edu 37 3 121413693 121413693 + Frame_Shift_Del DEL G - - TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr3:121413693delG uc003eei.3 - 13 5788 c.5662delC c.(5662-5664)CAGfs p.Q1888fs GOLGB1_uc010hrc.2_Frame_Shift_Del_p.Q1893fs|GOLGB1_uc003eej.3_Frame_Shift_Del_p.Q1854fs|GOLGB1_uc011bjm.1_Frame_Shift_Del_p.Q1774fs|GOLGB1_uc010hrd.1_Frame_Shift_Del_p.Q1852fs NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1888 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) ACTTCCTCCTGAAGCATTTTT 0.368 DIRC2 84925 broad.mit.edu 37 3 122514299 122514299 + Missense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr3:122514299G>A uc003efw.3 + 1 399 c.260G>A c.(259-261)AGC>AAC p.S87N DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_5'UTR|HSPBAP1_uc003efu.1_5'Flank|HSPBAP1_uc003efv.1_5'Flank NM_032839 NP_116228 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 87 transport integral to membrane 0 GBM - Glioblastoma multiforme(114;0.0614) GGCTTCTCCAGCTGGGACATC 0.662 SELT 51714 broad.mit.edu 37 3 150321196 150321196 + Missense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr3:150321196G>A uc011bnx.1 + 1 131 c.47G>A c.(46-48)CGG>CAG p.R16Q SERP1_uc003exz.2_5'Flank|uc003eye.1_5'Flank NM_016275 NP_057359 P62341 SELT_HUMAN selenoprotein T precursor 16 RSE -> WSD (in Ref. 4; AAH09611). cell redox homeostasis|selenocysteine incorporation selenium binding 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GCGATGGTCCGGAGCGAGGCC 0.597 PIK3CA 5290 broad.mit.edu 37 3 178916614 178916614 + Missense_Mutation SNP A G G TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr3:178916614A>G uc003fjk.2 + 2 158 c.1A>G c.(1-3)ATG>GTG p.M1V NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATCAGAACAATGCCTCCACG 0.378 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) MFSD7 84179 broad.mit.edu 37 4 680439 680439 + Missense_Mutation SNP T C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr4:680439T>C uc003gay.2 - 2 233 c.176A>G c.(175-177)GAG>GGG p.E59G MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Missense_Mutation_p.E59G|MFSD7_uc003gaz.2_Intron|MFSD7_uc003gba.2_Missense_Mutation_p.E59G|MFSD7_uc003gbb.1_5'UTR NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 59 transmembrane transport integral to membrane 0 GACCAAGTCCTCAGCAATGAC 0.622 DRD5 1816 broad.mit.edu 37 4 9784960 9784960 + Missense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr4:9784960G>A uc003gmb.3 + 1 1703 c.1307G>A c.(1306-1308)CGC>CAC p.R436H NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 436 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CCTTTCGATCGCATGTTCCAG 0.552 UGT2A1 10941 broad.mit.edu 37 4 70513056 70513056 + Missense_Mutation SNP T C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr4:70513056T>C uc003hem.3 - 1 370 c.307A>G c.(307-309)ACC>GCC p.T103A UGT2A1_uc011caq.1_Missense_Mutation_p.T103A|UGT2A1_uc010ihu.2_Missense_Mutation_p.T103A|UGT2A1_uc010iht.2_Missense_Mutation_p.T103A NM_006798 NP_006789 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, 103 Extracellular (Potential). detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity|glucuronosyltransferase activity ovary(1) 1 CTCCAAATGGTTGAAGGAGAT 0.408 EGF 1950 broad.mit.edu 37 4 110883096 110883096 + Missense_Mutation SNP T A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr4:110883096T>A uc003hzy.3 + 8 1719 c.1267T>A c.(1267-1269)TGT>AGT p.C423S EGF_uc011cfu.1_Missense_Mutation_p.C381S|EGF_uc011cfv.1_Missense_Mutation_p.C423S NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 423 EGF-like 3.|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) CTTATGTTTCTGTCCTGAAGG 0.393 PDZD2 23037 broad.mit.edu 37 5 32074373 32074381 + In_Frame_Del DEL CCTATGCAG - - TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr5:32074373_32074381delCCTATGCAG uc003jhl.2 + 18 3549_3557 c.3161_3169delCCTATGCAG c.(3160-3171)TCCTATGCAGCC>TCC p.YAA1055del PDZD2_uc003jhm.2_In_Frame_Del_p.YAA1055del|PDZD2_uc011cnx.1_In_Frame_Del_p.YAA881del NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1055_1057 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GATGCTGCGTCCTATGCAGCCAACCTCAC 0.569 ADAMTS12 81792 broad.mit.edu 37 5 33751608 33751608 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr5:33751608C>T uc003jia.1 - 3 698 c.535G>A c.(535-537)GTG>ATG p.V179M ADAMTS12_uc010iuq.1_Missense_Mutation_p.V179M|ADAMTS12_uc003jib.1_Missense_Mutation_p.V179M NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 179 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TGCTTCTTCACGGGTTCAATG 0.423 HNSCC(64;0.19) ACSL6 23305 broad.mit.edu 37 5 131296260 131296260 + Nonsense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr5:131296260G>A uc010jdo.1 - 19 1920 c.1837C>T c.(1837-1839)CAG>TAG p.Q613* ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Nonsense_Mutation_p.Q638*|ACSL6_uc003kvy.1_Nonsense_Mutation_p.Q638*|ACSL6_uc003kwb.2_Nonsense_Mutation_p.Q603*|ACSL6_uc003kvz.1_Nonsense_Mutation_p.Q538*|ACSL6_uc003kwa.1_Nonsense_Mutation_p.Q624*|ACSL6_uc003kvw.1_Nonsense_Mutation_p.Q259*|ACSL6_uc010jdn.1_Nonsense_Mutation_p.Q628* NM_015256 NP_056071 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 613 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTCTCTTCTGGGCCCAGGAG 0.458 CSF1R 1436 broad.mit.edu 37 5 149456956 149456956 + Frame_Shift_Del DEL G - - TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr5:149456956delG uc003lrl.2 - 5 967 c.772delC c.(772-774)CAAfs p.Q258fs CSF1R_uc011dcd.1_Frame_Shift_Del_p.Q110fs|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Frame_Shift_Del_p.Q258fs|CSF1R_uc011dce.1_Frame_Shift_Del_p.Q258fs|CSF1R_uc011dcf.1_Frame_Shift_Del_p.Q258fs NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 258 Extracellular (Potential).|Ig-like C2-type 3. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) AGGACTTTTTGGTAACGGTTA 0.443 FABP6 2172 broad.mit.edu 37 5 159656578 159656578 + Missense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr5:159656578G>A uc003lya.1 + 1 142 c.14G>A c.(13-15)GGC>GAC p.G5D FABP6_uc003lxx.1_Missense_Mutation_p.G54D|FABP6_uc003lxz.1_Missense_Mutation_p.G54D NM_001445 NP_001436 P51161 FABP6_HUMAN gastrotropin isoform 2 5 bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation cytosol transporter activity 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCTTTCACCGGCAAGTTCGAG 0.537 PGBD1 84547 broad.mit.edu 37 6 28269185 28269186 + Missense_Mutation DNP GT TA TA TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr6:28269185_28269186GT>TA uc003nky.2 + 7 1924_1925 c.1554_1555GT>TA c.(1552-1557)AAGTTT>AATATT p.518_519KF>NI PGBD1_uc003nkz.2_Missense_Mutation_p.518_519KF>NI NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 518_519 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 AAAAAGATAAGTTTACAAAGTT 0.356 TRIM10 10107 broad.mit.edu 37 6 30126240 30126240 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr6:30126240C>T uc003npo.3 - 3 768 c.692G>A c.(691-693)CGG>CAG p.R231Q TRIM10_uc003npn.2_Missense_Mutation_p.R231Q NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN tripartite motif-containing 10 isoform 1 231 cytoplasm zinc ion binding 0 AGCACTAAACCGGCAGATCTC 0.542 C6orf27 80737 broad.mit.edu 37 6 31742303 31742303 + Silent SNP C A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr6:31742303C>A uc011dog.1 - 5 949 c.711G>T c.(709-711)CCG>CCT p.P237P C6orf27_uc003nxd.2_5'UTR|C6orf27_uc011doh.1_RNA NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 237 extracellular region ovary(3) 3 CTGGAGGTTTCGGGGGATGAG 0.542 TAP2 6891 broad.mit.edu 37 6 32797852 32797852 + Silent SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr6:32797852C>T uc003occ.2 - 9 1681 c.1650G>A c.(1648-1650)GGG>GGA p.G550G TAP2_uc011dqf.1_Silent_p.G550G|TAP2_uc003ocb.1_Silent_p.G550G|TAP2_uc003ocd.2_Silent_p.G550G NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family 550 ABC transporter.|Cytoplasmic (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 CAGGCTCCTGCCCAACTGAAA 0.587 CRISP3 10321 broad.mit.edu 37 6 49700907 49700907 + Splice_Site SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr6:49700907C>T uc003ozs.2 - 6 536 c.521_splice c.e6+1 p.A174_splice NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TATATACTTACGCAGGACAAT 0.299 NT5E 4907 broad.mit.edu 37 6 86203692 86203692 + Silent SNP T C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr6:86203692T>C uc003pko.3 + 9 2251 c.1695T>C c.(1693-1695)CTT>CTC p.L565L NT5E_uc010kbr.2_Silent_p.L515L NM_002526 NP_002517 P21589 5NTD_HUMAN 5' nucleotidase, ecto precursor 565 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding ovary(3)|central_nervous_system(1) 4 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) TTCTTTCACTTTGGGCAGTGA 0.358 MAP3K5 4217 broad.mit.edu 37 6 137041637 137041637 + Missense_Mutation SNP T C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr6:137041637T>C uc003qhc.2 - 2 900 c.539A>G c.(538-540)AAC>AGC p.N180S MAP3K5_uc011edk.1_Missense_Mutation_p.N25S|MAP3K5_uc010kgw.1_Missense_Mutation_p.N180S NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 180 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) GAGGATGATGTTGTTGGCCAT 0.473 GLI3 2737 broad.mit.edu 37 7 42005081 42005081 + Missense_Mutation SNP A G G TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr7:42005081A>G uc011kbh.1 - 15 3681 c.3590T>C c.(3589-3591)ATG>ACG p.M1197T GLI3_uc011kbg.1_Missense_Mutation_p.M1138T NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1197 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GTGGACGACCATGCCGTTGCA 0.662 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome LMTK2 22853 broad.mit.edu 37 7 97822800 97822800 + Missense_Mutation SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr7:97822800C>T uc003upd.1 + 11 3316 c.3023C>T c.(3022-3024)GCG>GTG p.A1008V NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 1008 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GTCCACGAAGCGCTACTGGAC 0.587 LAMB1 3912 broad.mit.edu 37 7 107566693 107566693 + Missense_Mutation SNP C A A rs143093758 TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr7:107566693C>A uc003vew.2 - 32 5334 c.4999G>T c.(4999-5001)GGG>TGG p.G1667W LAMB1_uc003vev.2_Missense_Mutation_p.G1691W|LAMB1_uc003veu.2_Missense_Mutation_p.G150W NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1667 Potential.|Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTGCCTCCCCGGAGTTTTGG 0.428 LAMB4 22798 broad.mit.edu 37 7 107703420 107703420 + Silent SNP G A A rs144037364 byFrequency TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr7:107703420G>A uc010ljo.1 - 23 3165 c.3081C>T c.(3079-3081)TCC>TCT p.S1027S LAMB4_uc003vey.2_Silent_p.S1027S|LAMB4_uc010ljp.1_5'UTR NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1027 Laminin EGF-like 11. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 GACTCACGCCGGAAGCATGGC 0.517 MET 4233 broad.mit.edu 37 7 116340174 116340174 + Missense_Mutation SNP T C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr7:116340174T>C uc003vij.2 + 2 1223 c.1036T>C c.(1036-1038)TTC>CTC p.F346L MET_uc010lkh.2_Missense_Mutation_p.F346L|MET_uc011knc.1_Missense_Mutation_p.F346L|MET_uc011knd.1_Missense_Mutation_p.F346L|MET_uc011kne.1_Missense_Mutation_p.F346L|MET_uc011knf.1_Missense_Mutation_p.F346L|MET_uc011kng.1_Missense_Mutation_p.F346L|MET_uc011knh.1_Missense_Mutation_p.F346L|MET_uc011kni.1_Missense_Mutation_p.F346L|MET_uc003vii.1_Missense_Mutation_p.F365L|MET_uc010lkg.2_Missense_Mutation_p.F346L|MET_uc011kmz.1_Missense_Mutation_p.F346L|MET_uc011kna.1_Missense_Mutation_p.F346L|MET_uc011knb.1_Missense_Mutation_p.F346L NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 346 Extracellular (Potential).|Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TTTCGGGGTGTTCGCACAAAG 0.468 Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) MET 4233 broad.mit.edu 37 7 116340270 116340270 + Missense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr7:116340270G>A uc003vij.2 + 2 1319 c.1132G>A c.(1132-1134)GTC>ATC p.V378I MET_uc010lkh.2_Missense_Mutation_p.V378I|MET_uc011knc.1_Missense_Mutation_p.V378I|MET_uc011knd.1_Missense_Mutation_p.V378I|MET_uc011kne.1_Missense_Mutation_p.V378I|MET_uc011knf.1_Missense_Mutation_p.V378I|MET_uc011kng.1_Missense_Mutation_p.V378I|MET_uc011knh.1_Missense_Mutation_p.V378I|MET_uc011kni.1_Missense_Mutation_p.V378I|MET_uc003vii.1_Missense_Mutation_p.V397I|MET_uc010lkg.2_Missense_Mutation_p.V378I|MET_uc011kmz.1_Missense_Mutation_p.V378I|MET_uc011kna.1_Missense_Mutation_p.V378I|MET_uc011knb.1_Missense_Mutation_p.V378I NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 378 Extracellular (Potential).|Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CAACAAGATCGTCAACAAAAA 0.433 Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) KCNH2 3757 broad.mit.edu 37 7 150645539 150645539 + Silent SNP C T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr7:150645539C>T uc003wic.2 - 11 2698 c.2685G>A c.(2683-2685)ACG>ACA p.T895T KCNH2_uc003wib.2_Silent_p.T555T|KCNH2_uc011kux.1_Silent_p.T799T NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 895 Cytoplasmic (Potential). T->A: Abolishes phosphorylation; when associated with A-283; A-890 and A-1137. blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) cacccTTGTCCGTGCGCCTGC 0.368 NEFM 4741 broad.mit.edu 37 8 24775127 24775127 + Missense_Mutation SNP A G G TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr8:24775127A>G uc003xed.3 + 3 1792 c.1759A>G c.(1759-1761)AAA>GAA p.K587E NEFM_uc011lac.1_Missense_Mutation_p.K587E|NEFM_uc010lue.2_Missense_Mutation_p.K211E NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 587 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) agaggaaaagaaagtggagga 0.249 UBR5 51366 broad.mit.edu 37 8 103297923 103297923 + Missense_Mutation SNP C G G TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr8:103297923C>G uc003ykr.1 - 39 5335 c.5302G>C c.(5302-5304)GCT>CCT p.A1768P UBR5_uc003yks.1_Missense_Mutation_p.A1768P NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1768 Poly-Ala. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GCTTCCAAAGCAGCTGCTGCA 0.468 CSMD3 114788 broad.mit.edu 37 8 113420584 113420584 + Silent SNP T C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr8:113420584T>C uc003ynu.2 - 34 5727 c.5568A>G c.(5566-5568)GGA>GGG p.G1856G CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Silent_p.G1816G|CSMD3_uc011lhx.1_Silent_p.G1752G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1856 Extracellular (Potential).|CUB 10. 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 CTGTTATTGGTCCAACTGAAG 0.343 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) BICD2 23299 broad.mit.edu 37 9 95480999 95480999 + Missense_Mutation SNP G T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chr9:95480999G>T uc004aso.1 - 5 1985 c.1928C>A c.(1927-1929)GCA>GAA p.A643E BICD2_uc004asp.1_Missense_Mutation_p.A643E NM_015250 NP_056065 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 isoform 2 643 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding skin(1) 1 GTCCACGGCTGCCTGCAGGTG 0.622 ARSH 347527 broad.mit.edu 37 X 2933417 2933417 + Silent SNP A G G TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chrX:2933417A>G uc011mhj.1 + 4 747 c.747A>G c.(745-747)GCA>GCG p.A249A NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 249 integral to membrane arylsulfatase activity|metal ion binding lung(1) 1 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TGAAGGAGGCACTTGCTTTCA 0.398 FRMPD4 9758 broad.mit.edu 37 X 12736450 12736450 + Missense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chrX:12736450G>A uc004cuz.1 + 16 4011 c.3505G>A c.(3505-3507)GCT>ACT p.A1169T FRMPD4_uc011mij.1_Missense_Mutation_p.A1161T NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1169 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 CCCAGAGGACGCTGACTCGTC 0.542 CXorf59 286464 broad.mit.edu 37 X 36091481 36091481 + Missense_Mutation SNP G T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chrX:36091481G>T uc004ddk.1 + 4 602 c.416G>T c.(415-417)AGG>ATG p.R139M NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 139 integral to membrane central_nervous_system(1) 1 ACTATAAGAAGGTGAGAGTCC 0.343 BCOR 54880 broad.mit.edu 37 X 39911637 39911637 + Missense_Mutation SNP G T T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chrX:39911637G>T uc004den.3 - 15 5285 c.4993C>A c.(4993-4995)CTG>ATG p.L1665M BCOR_uc004dep.3_Missense_Mutation_p.L1631M|BCOR_uc004deo.3_Missense_Mutation_p.L1613M|BCOR_uc010nhb.2_3'UTR|BCOR_uc004dem.3_Missense_Mutation_p.L1631M NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 1665 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 TCCGAAAGCAGTAGCCAGTTT 0.393 HUWE1 10075 broad.mit.edu 37 X 53571567 53571567 + Silent SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chrX:53571567G>A uc004dsp.2 - 72 11607 c.11205C>T c.(11203-11205)GAC>GAT p.D3735D HUWE1_uc004dsn.2_Silent_p.D2543D|HUWE1_uc004dsq.1_Silent_p.D50D NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3735 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GGCGCGTGTCGTCCCGGAGCT 0.552 OPHN1 4983 broad.mit.edu 37 X 67331781 67331781 + Missense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chrX:67331781G>A uc004dww.3 - 18 1735 c.1441C>T c.(1441-1443)CGC>TGC p.R481C OPHN1_uc011mpg.1_Missense_Mutation_p.R481C NM_002547 NP_002538 O60890 OPHN1_HUMAN oligophrenin 1 481 Rho-GAP. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(2) 2 GCTCCTAGGCGGTAATCCAGG 0.403 TAF1 6872 broad.mit.edu 37 X 70598242 70598246 + Frame_Shift_Del DEL ACTAT - - TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chrX:70598242_70598246delACTAT uc004dzu.3 + 7 1139_1143 c.1088_1092delACTAT c.(1087-1092)GACTATfs p.D363fs BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Frame_Shift_Del_p.D384fs NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 363_364 Protein kinase 1. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) AGTGGGTTTGACTATGGCTTCAAAC 0.454 CAPN6 827 broad.mit.edu 37 X 110494471 110494471 + Missense_Mutation SNP G C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chrX:110494471G>C uc004epc.1 - 7 1105 c.937C>G c.(937-939)CTG>GTG p.L313V CAPN6_uc011msu.1_Missense_Mutation_p.L58V NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 313 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 ACAAGCCCCAGGTTCTTGCGA 0.393 GRIA3 2892 broad.mit.edu 37 X 122538688 122538688 + Missense_Mutation SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chrX:122538688G>A uc004etq.3 + 11 1716 c.1423G>A c.(1423-1425)GTT>ATT p.V475I GRIA3_uc004etr.3_Missense_Mutation_p.V475I|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.V459I NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 475 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) ATTGTCCATCGTTGGTGACGG 0.418 GPR112 139378 broad.mit.edu 37 X 135496349 135496349 + Missense_Mutation SNP G C C TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chrX:135496349G>C uc004ezu.1 + 25 9359 c.9068G>C c.(9067-9069)GGA>GCA p.G3023A GPR112_uc010nsb.1_Missense_Mutation_p.G2818A NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 3023 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) ATAAAGGTTGGATATAAACAG 0.318 PLXNA3 55558 broad.mit.edu 37 X 153694760 153694760 + Silent SNP G A A TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx f41d5328-3310-4384-be5a-775bdbb2393f 0fe3a646-734e-4f89-b0cf-1c3b4c5b2285 g.chrX:153694760G>A uc004flm.2 + 16 3014 c.2841G>A c.(2839-2841)GCG>GCA p.A947A NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 947 IPT/TIG 2.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTGGCCCGGCGTCCGGGGGCA 0.662