Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut UBC 7316 broad.mit.edu 37 12 125397415 125397415 + Silent SNP G G A TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr12:125397415G>A ENST00000536769.1 - 1 2479 c.903C>T c.(901-903)ctC>ctT p.L301L UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.L225L|UBC_ENST00000339647.5_Silent_p.L301L P0CG48 UBC_HUMAN ubiquitin C 301 Ubiquitin-like 4. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TCCCACCTCTGAGACGGAGCA 0.532000 5 144 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 8 190 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62199815 62199815 + Missense_Mutation SNP G G C TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr20:62199815G>C ENST00000467148.1 - 5 1695 c.1626C>G c.(1624-1626)atC>atG p.I542M RP4-697K14.12_ENST00000454223.1_RNA NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator AGGGGCCATAGATGAGTAGCG 0.667000 6 5 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70450954 70450954 + Missense_Mutation SNP C C T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr18:70450954C>T ENST00000327305.6 - 7 1484 c.827G>A c.(826-828)cGa>cAa p.R276Q NETO1_ENST00000299430.2_Missense_Mutation_p.R275Q|NETO1_ENST00000583169.1_Missense_Mutation_p.R276Q NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 276 CUB 2. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TCGGCTGTTTCGACTGCCCTC 0.463000 8 164 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113856738 113856738 + Splice_Site SNP C C G TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr11:113856738C>G ENST00000504030.2 + 6 991 c.544_splice c.e6-1 p.I182_splice HTR3A_ENST00000506841.2_Splice_Site_p.I182_splice|HTR3A_ENST00000375498.2_Splice_Site_p.I188_splice|HTR3A_ENST00000299961.5_Splice_Site_p.I167_splice|HTR3A_ENST00000355556.2_Splice_Site_p.I188_splice|HTR3A_ENST00000535865.1_Intron P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 182 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CTCTCTCAGTCCAGGACATCA 0.532000 5 344 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13601009 13601009 + Silent SNP C C T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr4:13601009C>T ENST00000040738.5 - 10 7650 c.7515G>A c.(7513-7515)ctG>ctA p.L2505L NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2505 DNA binding CTGGTCCTCTCAGGTGGGCAG 0.532000 OREG0016115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 49 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 12 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 5 198 0 0 1 0 0 WDR34 89891 broad.mit.edu 37 9 131397371 131397371 + Splice_Site SNP C C T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr9:131397371C>T ENST00000372715.2 - 6 1041 c.981_splice c.e6+1 p.K327_splice WDR34_ENST00000483181.1_5'UTR NM_052844.3 NP_443076.2 Q96EX3 WDR34_HUMAN WD repeat domain 34 327 cytoplasm central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1) 9 GCCCACGTACCTTCTTGAGCT 0.647000 OREG0019522 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 55 0 0 1 0 0 BBS2 583 broad.mit.edu 37 16 56535329 56535329 + Silent SNP G G C rs71387119 TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr16:56535329G>C ENST00000245157.5 - 10 1581 c.1161C>G c.(1159-1161)ctC>ctG p.L387L BBS2_ENST00000568104.1_Silent_p.L387L NM_031885.3 NP_114091.3 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 387 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 GGCTGACTGAGAGCGTGGTGT 0.522000 Bardet-Biedl syndrome 5 194 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 56 0 0 1 0 0 TET2 54790 broad.mit.edu 37 4 106156119 106156119 + Missense_Mutation SNP C C G TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr4:106156119C>G ENST00000513237.1 + 3 1880 c.1083C>G c.(1081-1083)atC>atG p.I361M TET2_ENST00000413648.2_Missense_Mutation_p.I340M|TET2_ENST00000305737.2_Missense_Mutation_p.I340M|TET2_ENST00000545826.1_Missense_Mutation_p.I340M|TET2_ENST00000540549.1_Missense_Mutation_p.I340M|TET2_ENST00000380013.4_Missense_Mutation_p.I340M|TET2_ENST00000394764.1_Missense_Mutation_p.I340M Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 340 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.Q341fs*6(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) AAAATAACATCCAGGGAACCA 0.418000 """Mis N, F""" MDS 4 66 0 0 1 0 0 ALPPL2 251 broad.mit.edu 37 2 233272321 233272321 + Silent SNP G G A TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr2:233272321G>A ENST00000295453.3 + 4 370 c.318G>A c.(316-318)aaG>aaA p.K106K NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 106 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GTGTAGACAAGCATGTGCCAG 0.567000 4 51 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42490290 42490290 + Missense_Mutation SNP G G C TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr19:42490290G>C ENST00000545399.1 - 5 641 c.488C>G c.(487-489)tCc>tGc p.S163C ATP1A3_ENST00000602133.1_Missense_Mutation_p.S120C|ATP1A3_ENST00000543770.1_Missense_Mutation_p.S161C|ATP1A3_ENST00000302102.5_Missense_Mutation_p.S150C NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 150 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GTTCTTGAAGGACTCCATGAT 0.632000 4 94 0 0 1 0 0 C1orf213 0 broad.mit.edu 37 1 23695869 23695869 + Missense_Mutation SNP G G A TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr1:23695869G>A ENST00000335648.3 + 1 141 c.79G>A c.(79-81)Gca>Aca p.A27T ZNF436_ENST00000314011.4_5'UTR|C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000454117.1_Missense_Mutation_p.A27T|C1orf213_ENST00000437367.2_Missense_Mutation_p.A27T kidney(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) CTCCTGTCCCGCAAAAGATCC 0.572000 4 58 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75475639 75475639 + RNA SNP T T C TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr3:75475639T>C ENST00000459803.1 - 0 890 NR_024241.1 p.H284R(1) CTCTGGGTTGTGGACGGTAAA 0.662000 4 112 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117803286 117803286 + Missense_Mutation SNP G G C TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr9:117803286G>C ENST00000350763.4 - 19 5737 c.5326C>G c.(5326-5328)Ctt>Gtt p.L1776V TNC_ENST00000535648.1_Missense_Mutation_p.L1321V|TNC_ENST00000423613.2_Missense_Mutation_p.L1503V|TNC_ENST00000340094.3_Missense_Mutation_p.L1412V|TNC_ENST00000537320.1_Missense_Mutation_p.L1139V|TNC_ENST00000341037.4_Missense_Mutation_p.L1594V|TNC_ENST00000346706.3_Missense_Mutation_p.L1230V|TNC_ENST00000345230.3_Missense_Mutation_p.L1139V|TNC_ENST00000542877.1_Missense_Mutation_p.L1413V NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1776 Fibronectin type-III 13. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding p.L1776I(1) NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 ATGCTGACAAGGTACTCCACG 0.512000 7 57 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 3 12 0.00909568 0.00922562 1 1 0 POM121L9P 0 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 6 31 0 0 1 0 0 ZBTB43 23099 broad.mit.edu 37 9 129595683 129595683 + Missense_Mutation SNP G G A TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr9:129595683G>A ENST00000373464.4 + 3 1159 c.895G>A c.(895-897)Gaa>Aaa p.E299K ZBTB43_ENST00000449886.1_Missense_Mutation_p.E299K|ZBTB43_ENST00000373457.1_Missense_Mutation_p.E299K NM_014007.3 NP_054726.1 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 GAAGAAAGTGGAAGCTGAGTT 0.522000 15 23 0 0 1 0 0 CC2D2A 57545 broad.mit.edu 37 4 15559105 15559105 + Missense_Mutation SNP G G A TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr4:15559105G>A ENST00000424120.1 + 21 3058 c.2804G>A c.(2803-2805)cGa>cAa p.R935Q CC2D2A_ENST00000413206.1_Missense_Mutation_p.R935Q|CC2D2A_ENST00000389652.5_Missense_Mutation_p.R886Q|CC2D2A_ENST00000503292.1_Missense_Mutation_p.R935Q Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 935 cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 GTCTATGACCGAGAAATTATG 0.358000 7 9 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 32 33 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 62 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 41 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276075 186276075 + Silent SNP T T C TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr1:186276075T>C ENST00000445192.2 + 7 1269 c.1224T>C c.(1222-1224)acT>acC p.T408T PRG4_ENST00000367486.3_Silent_p.T365T|PRG4_ENST00000367483.4_Silent_p.T367T|PRG4_ENST00000367485.4_Silent_p.T315T|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 408 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T408T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACTCCCAAGGAGC 0.662000 12 132 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr16:90161618C>T ENST00000564451.1 + 0 971 TUBB8P7_ENST00000567960.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 4 20 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr1:142713944C>T ENST00000369381.2 - 0 661 TGATTACCTCCGAAGTTAAAG 0.308000 3 18 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659593 24659593 + RNA SNP C C T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr22:24659593C>T ENST00000414583.2 + 0 3118 NR_003714.1 TCACTGACATCGAAGGCTGCC 0.632000 6 32 0 0 1 0 0 SLC30A5 64924 broad.mit.edu 37 5 68417622 68417622 + Silent SNP A A G rs144055477 TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr5:68417622A>G ENST00000396591.3 + 13 2281 c.1671A>G c.(1669-1671)tcA>tcG p.S557S CTC-498J12.3_ENST00000504129.1_RNA NM_022902.4 NP_075053.2 Q8TAD4 ZNT5_HUMAN solute carrier family 30 (zinc transporter), member 5 557 His-rich loop. cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane zinc ion binding|zinc ion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) GCTGTCACTCATCTGATCACA 0.517000 11 18 0 0 1 0 0 OR5M3 219482 broad.mit.edu 37 11 56237236 56237236 + Silent SNP G G A TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr11:56237236G>A ENST00000312240.2 - 1 778 c.738C>T c.(736-738)gtC>gtT p.V246V NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) AGAATATAATGACAGCTGTCA 0.478000 4 64 0 0 1 0 0 MRPL41 64975 broad.mit.edu 37 9 140446550 140446550 + Missense_Mutation SNP C C T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr9:140446550C>T ENST00000371443.5 + 2 805 c.17C>T c.(16-18)gCa>gTa p.A6V NM_032477.2 NP_115866.1 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 6 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome breast(1)|lung(1) 2 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) GTCCTGGCCGCAGCGGCGCGC 0.796000 9 29 0 0 1 0 0 LMTK3 114783 broad.mit.edu 37 19 49005719 49005719 + Silent SNP C C T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr19:49005719C>T ENST00000600059.1 - 7 992 c.765G>A c.(763-765)gcG>gcA p.A255A LMTK3_ENST00000270238.3_Silent_p.A284A lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) AATGCAGGTGCGCCAGCCCGC 0.716000 4 62 0 0 1 0 0 LILRA3 0 broad.mit.edu 37 19 54802035 54802035 + Missense_Mutation SNP T T C TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr19:54802035T>C ENST00000391745.1 - 10 1520 c.1204A>G c.(1204-1206)Agt>Ggt p.S402G LILRA3_ENST00000391744.3_Missense_Mutation_p.S321G|LILRA3_ENST00000251390.3_Missense_Mutation_p.S385G leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTCACAGGACTCATGGGGAAT 0.582000 4 110 0 0 1 0 0 TRIP13 9319 broad.mit.edu 37 5 911973 911973 + Silent SNP G G A TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr5:911973G>A ENST00000166345.3 + 10 1238 c.882G>A c.(880-882)gtG>gtA p.V294V NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 294 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) CCAATGTTGTGATTCTGACCA 0.542000 5 77 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3747863 3747863 + Missense_Mutation SNP C C G TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr19:3747863C>G ENST00000541714.2 + 19 2856 c.2394C>G c.(2392-2394)agC>agG p.S798R TJP3_ENST00000587686.1_Missense_Mutation_p.S817R|TJP3_ENST00000539908.2_Missense_Mutation_p.S762R|TJP3_ENST00000589378.1_Missense_Mutation_p.S807R|TJP3_ENST00000382008.3_Missense_Mutation_p.S812R|TJP3_ENST00000262968.9_Missense_Mutation_p.S831R NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 812 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CTGACCTCAGCTGCGACAGCC 0.682000 14 32 0 0 1 0 0 ZDHHC23 254887 broad.mit.edu 37 3 113673157 113673157 + Missense_Mutation SNP G G C TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr3:113673157G>C ENST00000330212.3 + 3 1071 c.772G>C c.(772-774)Gag>Cag p.E258Q ZDHHC23_ENST00000498275.1_Missense_Mutation_p.E252Q NM_173570.3 NP_775841.2 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC-type containing 23 258 integral to membrane acyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2) 16 CAAAGCGAAGGAGGACTGGTG 0.582000 10 38 0 0 1 0 0 PSMC5 5705 broad.mit.edu 37 17 61907309 61907309 + Splice_Site SNP G G C TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr17:61907309G>C ENST00000310144.6 + 4 572 c.264_splice c.e4+1 p.K88_splice PSMC5_ENST00000581882.1_Splice_Site_p.K80_splice|PSMC5_ENST00000580864.1_Splice_Site_p.K80_splice|FTSJ3_ENST00000580295.1_5'UTR|PSMC5_ENST00000375812.4_Splice_Site_p.K80_splice NM_002805.5 NP_002796.4 P62195 PRS8_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 5 88 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 20 TGTTGGTCAAGGTAAAAGCAG 0.557000 13 51 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661362 22661362 + RNA SNP C C T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr22:22661362C>T ENST00000426066.1 + 0 360 NR_027293.1 TGGGCAACAGCGAGGGAAATG 0.502000 4 66 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30704985 30704985 + Missense_Mutation SNP C C G TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr8:30704985C>G ENST00000256246.2 - 1 1623 c.1549G>C c.(1549-1551)Gat>Cat p.D517H NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 517 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TCCTTTTCATCTATATTGCTG 0.313000 13 30 0 0 1 0 0 TCHP 84260 broad.mit.edu 37 12 110350871 110350871 + Missense_Mutation SNP G G A TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr12:110350871G>A ENST00000312777.5 + 10 1342 c.1128G>A c.(1126-1128)atG>atA p.M376I TCHP_ENST00000405876.4_Missense_Mutation_p.M376I NM_032300.4 NP_115676.1 Q9BT92 TCHP_HUMAN trichoplein, keratin filament binding 376 Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2) 22 ACAGACTGATGAGCGAGGTAA 0.602000 4 73 0 0 1 0 0 MKLN1 4289 broad.mit.edu 37 7 131172392 131172392 + Missense_Mutation SNP G G A TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr7:131172392G>A ENST00000352689.6 + 18 2153 c.2113G>A c.(2113-2115)Gct>Act p.A705T MKLN1_ENST00000421797.2_Missense_Mutation_p.A613T|MKLN1_ENST00000498778.1_3'UTR NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 705 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) TCACACCTATGCTCAAAGAAC 0.408000 10 58 0 0 1 0 0 CATSPER4 378807 broad.mit.edu 37 1 26527933 26527933 + Missense_Mutation SNP G G C TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr1:26527933G>C ENST00000456354.2 + 9 1355 c.1288G>C c.(1288-1290)Gag>Cag p.E430Q NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 430 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) CGGGTCGTTGGAGACTACGTC 0.577000 8 97 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74667954 74667954 + Missense_Mutation SNP C C G TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr18:74667954C>G ENST00000253159.8 + 28 5120 c.4922C>G c.(4921-4923)tCt>tGt p.S1641C ZNF236_ENST00000320610.9_Missense_Mutation_p.S1643C NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1641 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GCTGGCGTCTCTGGGAACCTG 0.592000 7 14 0 0 1 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177590 89177590 + Missense_Mutation SNP G G C TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chrX:89177590G>C ENST00000561129.2 + 1 636 c.506G>C c.(505-507)aGa>aCa p.R169T TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R169T Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 169 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 CAGATGTCAAGAGAGAAGCAA 0.587000 3 50 0 0 1 0 0 PDE12 201626 broad.mit.edu 37 3 57542553 57542553 + Missense_Mutation SNP G G C TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr3:57542553G>C ENST00000311180.8 + 1 550 c.447G>C c.(445-447)caG>caC p.Q149H PDE12_ENST00000487257.1_Missense_Mutation_p.Q149H NM_177966.5 NP_808881.3 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 149 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) CGGTGCTGCAGATCGGCGATG 0.622000 4 54 0 0 1 0 0 TSGA10 80705 broad.mit.edu 37 2 99697773 99697773 + Missense_Mutation SNP C C G TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr2:99697773C>G ENST00000393483.3 - 11 1543 c.699G>C c.(697-699)gaG>gaC p.E233D TSGA10_ENST00000539964.1_Missense_Mutation_p.E233D|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Missense_Mutation_p.E233D|TSGA10_ENST00000410001.1_Missense_Mutation_p.E233D|TSGA10_ENST00000355053.4_Missense_Mutation_p.E233D NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 233 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 ACATAATTTTCTCCTGAGTAA 0.299000 25 38 0 0 1 0 0 MRPL41 64975 broad.mit.edu 37 9 140446549 140446549 + Missense_Mutation SNP G G T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr9:140446549G>T ENST00000371443.5 + 2 804 c.16G>T c.(16-18)Gca>Tca p.A6S NM_032477.2 NP_115866.1 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 6 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome breast(1)|lung(1) 2 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) CGTCCTGGCCGCAGCGGCGCG 0.796000 9 27 0.000274275 0.000282225 1 1 0 DDX54 79039 broad.mit.edu 37 12 113603644 113603644 + Silent SNP C C T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr12:113603644C>T ENST00000314045.7 - 13 1635 c.1608G>A c.(1606-1608)gaG>gaA p.E536E DDX54_ENST00000306014.5_Silent_p.E536E NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 536 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CAAGGTCCATCTCCTTGGCCC 0.662000 15 32 0 0 1 0 0 ZNF512B 57473 broad.mit.edu 37 20 62593668 62593668 + Missense_Mutation SNP C C G TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr20:62593668C>G ENST00000450537.1 - 14 2283 c.2223G>C c.(2221-2223)aaG>aaC p.K741N ZNF512B_ENST00000217130.3_Missense_Mutation_p.K741N|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K741N Q96KM6 Z512B_HUMAN zinc finger protein 512B 741 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TCACTTCATTCTTCCATGCCT 0.622000 5 129 0 0 1 0 0 LRCH3 84859 broad.mit.edu 37 3 197598202 197598202 + Missense_Mutation SNP G G C TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr3:197598202G>C ENST00000438796.2 + 19 2043 c.1999G>C c.(1999-2001)Gag>Cag p.E667Q LRCH3_ENST00000425562.2_Missense_Mutation_p.E667Q|LRCH3_ENST00000334859.4_Missense_Mutation_p.E667Q|LRCH3_ENST00000536618.1_Missense_Mutation_p.E262Q|LRCH3_ENST00000414675.2_Missense_Mutation_p.E615Q|LRCH3_ENST00000441090.2_Missense_Mutation_p.E513Q Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 667 CH. extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) TCAGCATATTGAGTACCGGTT 0.373000 4 132 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr6:29977327T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 3 56 0 0 1 0 0 ZNF778 197320 broad.mit.edu 37 16 89294617 89294617 + Missense_Mutation SNP G G A TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr16:89294617G>A ENST00000433976.2 + 6 2169 c.1837G>A c.(1837-1839)Ggt>Agt p.G613S ZNF778_ENST00000306502.6_Missense_Mutation_p.G571S|RP11-46C24.6_ENST00000563182.1_RNA NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 613 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) AACCCACACCGGTGAGAAACC 0.463000 4 91 0 0 1 0 0 C17orf97 400566 broad.mit.edu 37 17 263322 263322 + Missense_Mutation SNP G G A TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr17:263322G>A ENST00000360127.6 + 2 704 c.688G>A c.(688-690)Gag>Aag p.E230K AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 230 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 CCCCGACCCCGAGGCCCTCAA 0.716000 4 29 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75475607 75475607 + RNA SNP C C T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr3:75475607C>T ENST00000459803.1 - 0 922 NR_024241.1 TCACCTAGCTCGGTGGTGAAC 0.652000 4 129 0 0 1 0 0 C12orf65 91574 broad.mit.edu 37 12 123738272 123738272 + Silent SNP C C T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr12:123738272C>T ENST00000253233.1 + 2 695 c.51C>T c.(49-51)tgC>tgT p.C17C RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000366329.2_Silent_p.C17C|C12orf65_ENST00000429587.2_Silent_p.C17C NM_152269.4 NP_689482.1 Q9H3J6 CL065_HUMAN chromosome 12 open reading frame 65 17 mitochondrion translation release factor activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199) CCCGAATATGCCCGGCGCCAT 0.542000 4 103 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277190 186277190 + Missense_Mutation SNP G G A TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr1:186277190G>A ENST00000445192.2 + 7 2384 c.2339G>A c.(2338-2340)gGg>gAg p.G780E PRG4_ENST00000367486.3_Missense_Mutation_p.G737E|PRG4_ENST00000367483.4_Missense_Mutation_p.G739E|PRG4_ENST00000367485.4_Missense_Mutation_p.G687E|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 780 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCCTAAGGGGACTGCTCCA 0.607000 5 248 0 0 1 0 0 HLA-C 3107 broad.mit.edu 37 6 31239819 31239819 + Silent SNP G G T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr6:31239819G>T ENST00000383329.3 - 1 44 c.30C>A c.(28-30)ctC>ctA p.L10L HLA-C_ENST00000376228.5_Silent_p.L10L Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 10 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 AGAGCAGCAGGAGGAGGGCTC 0.697000 8 14 1.33987e-11 1.39898e-11 1 1 0 FAM86DP 0 broad.mit.edu 37 3 75475600 75475600 + RNA SNP C C G TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr3:75475600C>G ENST00000459803.1 - 0 929 NR_024241.1 TGGGGGCTCACCTAGCTCGGT 0.642000 4 128 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 5 214 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600418 29600418 + Missense_Mutation SNP C C T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr13:29600418C>T ENST00000431530.3 + 1 1671 c.1613C>T c.(1612-1614)tCa>tTa p.S538L NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 528 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AGAGCAGATTCAGTTCTCAAT 0.473000 5 71 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.738 7 6 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89498121 89498122 + RNA INS - - A TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr8:89498121_89498122insA ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA gaacagctatgaaaaaaaaaac 0.386 3 4 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651199 1651200 + In_Frame_Ins INS - - GGCTGTGGCTCC rs71025763 TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr11:1651199_1651200insGGCTGTGGCTCC ENST00000399676.2 + 1 167_168 c.129_130insGGCTGTGGCTCC c.(127-132)gggctg>ggGGCTGTGGCTCCgctg p.43_44GL>GAVAPL NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 43 G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccggctgtggaggctgtggggg 0.713 48 40 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 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) agcagcaacaacagcagcagca 0.564 23 53 --- --- --- --- TRAV24 0 broad.mit.edu 37 14 22573825 22573826 + RNA INS - - A rs33991650 by1000genomes TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr14:22573825_22573826insA ENST00000390453.1 + 0 55 GACTCTTTTTTAAAAAAACAGG 0.450 7 13 --- --- --- --- BEGAIN 57596 broad.mit.edu 37 14 101004529 101004530 + Frame_Shift_Ins INS - - C TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr14:101004529_101004530insC ENST00000556751.1 - 5 4770_4771 c.1366_1367insG c.(1366-1368)cggfs p.R456fs BEGAIN_ENST00000355173.2_Frame_Shift_Ins_p.R520fs|BEGAIN_ENST00000443071.2_Frame_Shift_Ins_p.R520fs Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 520 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) CCTGTCCCCGTCCCCCCCCTCG 0.733 3 6 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65918177 65918179 + In_Frame_Del DEL CTG CTG - TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr15:65918177_65918179delCTG ENST00000261892.6 + 2 2046_2048 c.1759_1761delCTG c.(1759-1761)del p.L591del SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 591 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GTGGGAGAGCCTGCTGCTGCTGC 0.547 9 109 --- --- --- --- USP32P2 0 broad.mit.edu 37 17 18431578 18431579 + RNA INS - - T TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr17:18431578_18431579insT ENST00000425211.1 - 0 1497 TGACCTCGGGCTTTTTTTTTCT 0.441 2 4 --- --- --- --- TTC25 83538 broad.mit.edu 37 17 40107001 40107001 + RNA DEL T T - TCGA-IM-A41Y-01A-11D-A23U-08 TCGA-IM-A41Y-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d038b3de-369a-4e8b-8533-bec87a61dedb 4f7e0b18-469e-4124-ae29-dc62d93bed92 g.chr17:40107001delT ENST00000591658.1 + 0 1213 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) CACCAACGCCTTTGAATGAGG 0.522 2 4 --- --- --- ---