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 LAMA3 3909 broad.mit.edu 37 18 21513897 21513897 + Nonsense_Mutation SNP C C T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr18:21513897C>T ENST00000313654.9 + 67 9101 c.8860C>T c.(8860-8862)Cag>Tag p.Q2954* LAMA3_ENST00000269217.6_Nonsense_Mutation_p.Q1345*|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.Q2898*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.Q1289* NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2954 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCGTATCAACCAGGTAAGTGT 0.493000 11 60 0 0 1 0 0 FAM111B 374393 broad.mit.edu 37 11 58893249 58893249 + Missense_Mutation SNP G G C TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr11:58893249G>C ENST00000343597.3 + 4 1870 c.1679G>C c.(1678-1680)gGa>gCa p.G560A FAM111B_ENST00000529618.1_Missense_Mutation_p.G530A|FAM111B_ENST00000411426.1_Missense_Mutation_p.G530A NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 560 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 TTTCCTCCAGGACTATGGCGA 0.368000 12 119 0 0 1 0 0 ACADVL 37 broad.mit.edu 37 17 7126073 7126073 + Silent SNP G G A TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr17:7126073G>A ENST00000356839.5 + 10 1145 c.966G>A c.(964-966)gtG>gtA p.V322V ACADVL_ENST00000543245.2_Silent_p.V345V|ACADVL_ENST00000350303.5_Silent_p.V300V NM_000018.3|NM_001270448.1 NP_000009.1|NP_001257377.1 P49748 ACADV_HUMAN acyl-CoA dehydrogenase, very long chain 322 Catalytic. energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1) 21 CGGAGAACGTGCTGGGTGAGG 0.562000 6 11 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118567994 118567994 + Missense_Mutation SNP C C T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr1:118567994C>T ENST00000336338.5 - 27 3841 c.3776G>A c.(3775-3777)cGt>cAt p.R1259H NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1259 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GTAGCTCTGACGGACCATGAT 0.483000 4 96 0 0 1 0 0 SNRNP48 154007 broad.mit.edu 37 6 7601689 7601689 + Missense_Mutation SNP G G T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr6:7601689G>T ENST00000342415.5 + 5 586 c.527G>T c.(526-528)cGc>cTc p.R176L NM_152551.3 NP_689764.3 Q6IEG0 SNR48_HUMAN small nuclear ribonucleoprotein 48kDa (U11/U12) 176 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 AAGAAAAAGCGCTCTGATTCT 0.388000 5 86 3.59834e-05 4.00569e-05 1 1 0 PCDHB6 0 broad.mit.edu 37 5 140530650 140530650 + Missense_Mutation SNP G G C TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr5:140530650G>C ENST00000231136.1 + 1 812 c.812G>C c.(811-813)gGa>gCa p.G271A PCDHB6_ENST00000543635.1_Missense_Mutation_p.G135A NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 271 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTAGATGCAGGATCGTTTGGG 0.498000 5 67 0 0 1 0 0 ALPPL2 251 broad.mit.edu 37 2 233272008 233272008 + Missense_Mutation SNP C C G TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr2:233272008C>G ENST00000295453.3 + 3 249 c.197C>G c.(196-198)tCt>tGt p.S66C NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 66 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) ATGGGGGTGTCTACGGTGACA 0.637000 3 54 0 0 1 0 0 ANKLE2 23141 broad.mit.edu 37 12 133304674 133304674 + Silent SNP C C A TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr12:133304674C>A ENST00000539605.1 - 11 9057 c.2373G>T c.(2371-2373)ccG>ccT p.P791P ANKLE2_ENST00000542657.1_Silent_p.P208P|ANKLE2_ENST00000542282.1_Silent_p.P208P|ANKLE2_ENST00000357997.5_Silent_p.P853P|ANKLE2_ENST00000542374.1_5'UTR Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 853 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) TGTGCACGGCCGGGAACTGAT 0.552000 10 145 7.48243e-07 8.82927e-07 1 1 0 TP53 7157 broad.mit.edu 37 17 7578272 7578272 + Missense_Mutation SNP G G T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr17:7578272G>T ENST00000420246.2 - 6 709 c.577C>A c.(577-579)Cat>Aat p.H193N TP53_ENST00000359597.4_Missense_Mutation_p.H193N|TP53_ENST00000445888.2_Missense_Mutation_p.H193N|TP53_ENST00000269305.4_Missense_Mutation_p.H193N|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H193N|TP53_ENST00000455263.2_Missense_Mutation_p.H193N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGATAAGATGCTGAGGAGGG 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 13 6 0.000308642 0.000331089 1 1 0 TBC1D22B 55633 broad.mit.edu 37 6 37247120 37247120 + Missense_Mutation SNP A A G TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr6:37247120A>G ENST00000373491.3 + 3 300 c.154A>G c.(154-156)Aag>Gag p.K52E NM_017772.2 NP_060242.2 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 52 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) AGTTCCTCTGAAGAATAAGAA 0.428000 4 130 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39178168 39178168 + Missense_Mutation SNP A A G TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr9:39178168A>G ENST00000297668.6 - 5 801 c.728T>C c.(727-729)tTt>tCt p.F243S CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.F243S|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.F243S|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.F155S|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.F243S NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 243 Laminin G-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ATTAAGAAAAAAGACAAGCTT 0.299000 32 122 0 0 1 0 0 SOX30 11063 broad.mit.edu 37 5 157078493 157078493 + Silent SNP G G A TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr5:157078493G>A ENST00000265007.6 - 1 935 c.594C>T c.(592-594)ggC>ggT p.G198G SOX30_ENST00000311371.5_Silent_p.G198G|SOX30_ENST00000519442.1_Intron NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 198 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGCCTGCCCCGCCTTGCATCG 0.657000 16 104 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22662971 22662971 + RNA SNP A A G TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr22:22662971A>G ENST00000426066.1 + 0 500 NR_027293.1 TGTAAGTAAAATTCACTTTGG 0.323000 2 5 0 0 1 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1774642 1774642 + Nonsense_Mutation SNP C C T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr16:1774642C>T ENST00000250894.4 + 2 560 c.403C>T c.(403-405)Cag>Tag p.Q135* MAPK8IP3_ENST00000356010.5_Nonsense_Mutation_p.Q135* NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 135 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 CCAGACGCGCCAGCTGGAGCT 0.557000 19 28 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36269483 36269483 + Missense_Mutation SNP G G A TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr19:36269483G>A ENST00000007510.4 + 5 532 c.388G>A c.(388-390)Gag>Aag p.E130K ARHGAP33_ENST00000378944.5_5'UTR|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.E130K|ARHGAP33_ENST00000221905.1_3'UTR O14559 RHG33_HUMAN Rho GTPase activating protein 33 130 PX; atypical. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CCCGCCCCCCGAGGGTGCCAG 0.597000 10 32 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44117079 44117079 + Missense_Mutation SNP A A G TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr17:44117079A>G ENST00000262419.6 - 8 2662 c.2192T>C c.(2191-2193)cTa>cCa p.L731P KANSL1_ENST00000393476.3_Missense_Mutation_p.L88P|KANSL1_ENST00000432791.1_Missense_Mutation_p.L731P|KANSL1_ENST00000575318.1_Missense_Mutation_p.L731P|KANSL1_ENST00000574590.1_Missense_Mutation_p.L731P|KANSL1_ENST00000572904.1_Missense_Mutation_p.L731P NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 731 MLL1 complex protein binding GGCTGTTGTTAGGAAGGAGCT 0.468000 28 62 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15841786 15841786 + Missense_Mutation SNP G G A TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr16:15841786G>A ENST00000338282.6 - 18 2301 c.2195C>T c.(2194-2196)gCg>gTg p.A732V MYH11_ENST00000576790.1_Missense_Mutation_p.A732V|MYH11_ENST00000396324.3_Missense_Mutation_p.A739V|MYH11_ENST00000300036.5_Missense_Mutation_p.A732V|MYH11_ENST00000452625.2_Missense_Mutation_p.A739V NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 732 Myosin head-like. 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 NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GGCATTCGCCGCCAGGATCTC 0.612000 T CBFB AML 9 65 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64666958 64666958 + Missense_Mutation SNP G G C TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr3:64666958G>C ENST00000498707.1 - 3 940 c.598C>G c.(598-600)Caa>Gaa p.Q200E ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Q200E|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.Q200E NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 200 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GGTTTGTTTTGTTCCTCTTCA 0.463000 16 32 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr16:90161578G>A ENST00000567960.1 + 0 314 TUBB8P7_ENST00000564451.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 8 25 0 0 1 0 0 USP53 54532 broad.mit.edu 37 4 120192824 120192824 + Missense_Mutation SNP A A T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr4:120192824A>T ENST00000450251.1 + 12 2353 c.1809A>T c.(1807-1809)agA>agT p.R603S USP53_ENST00000274030.6_Missense_Mutation_p.R603S Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 603 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 GTGAAAAAAGACAGCATAGTC 0.363000 14 29 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149152891 149152891 + Missense_Mutation SNP G G A TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr7:149152891G>A ENST00000247930.4 - 2 546 c.223C>T c.(223-225)Ctc>Ttc p.L75F NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CCCTTCTGGAGCACATGTGGC 0.587000 26 59 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47773070 47773070 + Silent SNP G G A TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr21:47773070G>A ENST00000359568.5 + 10 1616 c.1509G>A c.(1507-1509)caG>caA p.Q503Q PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 503 Glu-rich. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) ATTTAGAACAGCTGAAGCAGC 0.463000 16 38 0 0 1 0 0 LILRA3 0 broad.mit.edu 37 19 54804140 54804140 + Splice_Site SNP C C T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr19:54804140C>T ENST00000391745.1 - 5 401 c.85_splice c.e5+1 p.G29_splice LILRA3_ENST00000251390.3_Splice_Site_p.G12_splice|LILRA3_ENST00000391744.3_Splice_Site_p.G12_splice 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) CAAATCTCACCGAGACAGATC 0.592000 5 45 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1081442 1081442 + Missense_Mutation SNP C C T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr11:1081442C>T ENST00000441003.2 + 12 1487 c.1460C>T c.(1459-1461)cCg>cTg p.P487L MUC2_ENST00000359061.5_Missense_Mutation_p.P487L NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 487 VWFD 2. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GTCTTCCGCCCGTCTTCCTAC 0.652000 3 40 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 3 16 0 0 1 0 0 HSD17B4 3295 broad.mit.edu 37 5 118865641 118865641 + Missense_Mutation SNP C C T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr5:118865641C>T ENST00000504811.1 + 22 2079 c.1895C>T c.(1894-1896)cCa>cTa p.P632L HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.P589L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.P583L|HSD17B4_ENST00000513628.1_Missense_Mutation_p.P470L|HSD17B4_ENST00000256216.6_Missense_Mutation_p.P607L|HSD17B4_ENST00000509514.1_Missense_Mutation_p.P345L|HSD17B4_ENST00000414835.2_Missense_Mutation_p.P467L NM_001199291.1 NP_001186220.1 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 607 SCP2. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2) 25 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) GATCTTGCACCAACATCTGGT 0.363000 10 117 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237402438 237402438 + Silent SNP C C T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr2:237402438C>T ENST00000409907.3 - 3 703 c.429G>A c.(427-429)gcG>gcA p.A143A IQCA1_ENST00000431676.2_Silent_p.A143A|IQCA1_ENST00000309507.5_Silent_p.A139A Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 143 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 TTCCGCTGTCCGCTAATATTT 0.333000 4 2 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27799480 27799480 + Missense_Mutation SNP A A T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr2:27799480A>T ENST00000408964.2 + 1 92 c.41A>T c.(40-42)tAt>tTt p.Y14F NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 14 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GGTATAAATTATCAAGAGTTG 0.448000 5 57 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44894231 44894231 + Splice_Site SNP G G A TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chrX:44894231G>A ENST00000377967.4 + 7 660 c.e7+1 KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(12)|p.0?(6)|p.?(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 AATGCTGAAAGTAAGTATTAT 0.328000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 5 46 0 0 1 0 0 GPR126 0 broad.mit.edu 37 6 142691610 142691610 + Missense_Mutation SNP T T G TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr6:142691610T>G ENST00000230173.6 + 4 1225 c.749T>G c.(748-750)tTt>tGt p.F250C GPR126_ENST00000367609.3_Missense_Mutation_p.F250C|GPR126_ENST00000367608.2_Missense_Mutation_p.F250C|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000296932.8_Missense_Mutation_p.F250C NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 250 Pentaxin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) GCAGAAAGCTTTGAACAGCTC 0.338000 8 38 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102516424 102516424 + RNA SNP G G T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr15:102516424G>T ENST00000557932.1 + 0 1372 p.P449P(4) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGCCGCCACCGCAGCAGCCAC 0.647000 4 28 1.23904e-05 1.40583e-05 1 1 0 OR1N1 138883 broad.mit.edu 37 9 125288736 125288736 + Silent SNP C C A TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr9:125288736C>A ENST00000304880.2 - 1 836 c.837G>T c.(835-837)gtG>gtT p.V279V NM_012363.1 NP_036495.1 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, member 1 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 ACATGGGAGTCACTATGGTGT 0.483000 34 64 2.85442e-18 3.43695e-18 1 1 0 GSDMA 284110 broad.mit.edu 37 17 38133155 38133155 + Silent SNP C C T rs138595723 by1000genomes TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr17:38133155C>T ENST00000301659.4 + 12 1300 c.1182C>T c.(1180-1182)gaC>gaT p.D394D NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 394 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 CCCTTGGGGACGAGGAGCTGA 0.597000 5 81 0 0 1 0 0 PCDHA5 0 broad.mit.edu 37 5 140203514 140203514 + Silent SNP C C T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr5:140203514C>T ENST00000529859.1 + 1 2154 c.2154C>T c.(2152-2154)acC>acT p.T718T PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.T718T|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.T718T NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGTACACCGCGCTGCGGT 0.672000 7 51 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 6 27 0 0 1 0 0 EEF1D 1936 broad.mit.edu 37 8 144672319 144672319 + Missense_Mutation SNP G G A TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr8:144672319G>A ENST00000532741.1 - 1 311 c.83C>T c.(82-84)aCg>aTg p.T28M EEF1D_ENST00000423316.2_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000442189.2_Intron P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 0 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CCGCAGCCCCGTGCCCACCCT 0.667000 3 19 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73337651 73337651 + Missense_Mutation SNP G G C TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr13:73337651G>C ENST00000377767.4 - 16 2165 c.2065C>G c.(2065-2067)Cga>Gga p.R689G DIS3_ENST00000377780.4_Missense_Mutation_p.R659G|DIS3_ENST00000545453.1_Missense_Mutation_p.R527G NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 689 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) GGATGTTTTCGAAGCAGAGCA 0.368000 Multiple Myeloma(4;0.011) 16 46 0 0 1 0 0 ANO6 196527 broad.mit.edu 37 12 45816826 45816826 + Missense_Mutation SNP C C T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr12:45816826C>T ENST00000320560.8 + 19 2709 c.2507C>T c.(2506-2508)gCt>gTt p.A836V ANO6_ENST00000423947.3_Missense_Mutation_p.A857V|ANO6_ENST00000435642.1_Missense_Mutation_p.A836V|ANO6_ENST00000425752.2_Missense_Mutation_p.A836V|ANO6_ENST00000441606.2_Missense_Mutation_p.A818V NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 836 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GCCAAGCTGGCTTTTATCATT 0.408000 5 89 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73787590 73787590 + Missense_Mutation SNP G G A TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr6:73787590G>A ENST00000342056.2 + 5 1296 c.898G>A c.(898-900)Gat>Aat p.D300N KCNQ5_ENST00000403813.2_Missense_Mutation_p.D300N|KCNQ5_ENST00000402622.2_Missense_Mutation_p.D300N|KCNQ5_ENST00000370392.1_Missense_Mutation_p.D300N|KCNQ5_ENST00000370398.1_Missense_Mutation_p.D300N|KCNQ5_ENST00000355635.3_Missense_Mutation_p.D300N|KCNQ5_ENST00000355194.4_Missense_Mutation_p.D300N|KCNQ5_ENST00000414165.2_Missense_Mutation_p.D300N NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 300 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TACATATGCAGATGCTCTCTG 0.328000 24 51 0 0 1 0 0 ZNF586 54807 broad.mit.edu 37 19 58288003 58288003 + Translation_Start_Site SNP G G A TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr19:58288003G>A ENST00000391702.3 + 0 367 ZNF586_ENST00000396150.4_Intron|ZNF586_ENST00000396154.2_Silent_p.V43V|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron NM_001204814.1 NP_001191743.1 Q9NXT0 ZN586_HUMAN zinc finger protein 586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1) 15 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACCGTGACGTGATGCTGGAGA 0.473000 54 129 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161119123 161119123 + Missense_Mutation SNP G G T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr5:161119123G>T ENST00000523217.1 + 8 1215 c.973G>T c.(973-975)Gcc>Tcc p.A325S GABRA6_ENST00000274545.5_Missense_Mutation_p.A335S NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 335 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GACACAGAAGGCCAAAAGGAA 0.433000 TCGA Ovarian(5;0.080) 5 109 0.000602214 0.000634476 1 1 0 FMO3 2328 broad.mit.edu 37 1 171086373 171086373 + Missense_Mutation SNP G G C TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr1:171086373G>C ENST00000367755.4 + 9 1501 c.1390G>C c.(1390-1392)Ggc>Cgc p.G464R FMO3_ENST00000392085.2_Missense_Mutation_p.G464R|FMO3_ENST00000538429.1_Missense_Mutation_p.G401R|FMO3_ENST00000542847.1_Missense_Mutation_p.G444R NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 464 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGTTTATTTTGGCCCTTGTAG 0.517000 7 47 0 0 1 0 0 TMEM102 284114 broad.mit.edu 37 17 7339883 7339883 + Missense_Mutation SNP C C A TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr17:7339883C>A ENST00000323206.1 + 3 858 c.585C>A c.(583-585)agC>agA p.S195R RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.S195R NM_178518.2 NP_848613.1 Q8N9M5 TM102_HUMAN transmembrane protein 102 195 regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding kidney(1)|lung(3)|skin(1) 5 Prostate(122;0.173) AGCCGCACAGCTACGTCACTG 0.577000 5 35 0.184627 0.187811 1 1 0 KALRN 8997 broad.mit.edu 37 3 124044870 124044870 + Missense_Mutation SNP G G A rs138101634 TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr3:124044870G>A ENST00000360013.3 + 7 1257 c.1130G>A c.(1129-1131)cGc>cAc p.R377H KALRN_ENST00000460856.1_Missense_Mutation_p.R377H|KALRN_ENST00000240874.3_Missense_Mutation_p.R377H NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 377 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GTGGCTTCCCGCCTCTCTGAG 0.547000 10 54 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44117077 44117077 + Missense_Mutation SNP T T C TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr17:44117077T>C ENST00000262419.6 - 8 2664 c.2194A>G c.(2194-2196)Aca>Gca p.T732A KANSL1_ENST00000393476.3_Missense_Mutation_p.T89A|KANSL1_ENST00000432791.1_Missense_Mutation_p.T732A|KANSL1_ENST00000575318.1_Missense_Mutation_p.T732A|KANSL1_ENST00000574590.1_Missense_Mutation_p.T732A|KANSL1_ENST00000572904.1_Missense_Mutation_p.T732A NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 732 MLL1 complex protein binding CTGGCTGTTGTTAGGAAGGAG 0.478000 28 62 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55032718 55032718 + Missense_Mutation SNP G G T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr11:55032718G>T ENST00000417545.2 + 2 473 c.387G>T c.(385-387)ttG>ttT p.L129F NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 113 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TGCTCTGTTTGCTGTGCTCCA 0.527000 6 92 0.248553 0.248553 1 1 0 HSPD1P6 0 broad.mit.edu 37 3 36810380 36810381 + RNA INS - - T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr3:36810380_36810381insT ENST00000424886.1 - 0 405_406 TGAGTGAGGCCttttttttttt 0.540 3 5 --- --- --- --- HGFAC 3083 broad.mit.edu 37 4 3446102 3446102 + Frame_Shift_Del DEL C C - TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr4:3446102delC ENST00000382774.3 + 6 778 c.663delC c.(661-663)cgfs p.R221fs HGFAC_ENST00000511533.1_Frame_Shift_Del_p.R221fs NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 221 Fibronectin type-I. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCCGCGTGCGCCAGGGCCACG 0.672 2 4 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(157-162)gcccgc>gcGCCccgc p.53_54AR>APR KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 53 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 3 6 --- --- --- --- PCP2 126006 broad.mit.edu 37 19 7697378 7697382 + Frame_Shift_Del DEL GTCCA GTCCA - TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c0aa301-47a5-4e4f-bba7-2d4928ad174f c1021edb-96b3-4849-9d2f-23a76cf0dd31 g.chr19:7697378_7697382delGTCCA ENST00000311069.5 - 3 478_482 c.188_192delTGGAC c.(187-192)afs p.MD63fs CTD-3214H19.4_ENST00000595866.1_Intron|PCP2_ENST00000598935.1_Frame_Shift_Del_p.MD47fs NM_174895.1 NP_777555.1 Q8IVA1 PCP2_HUMAN Purkinje cell protein 2 63 GoLoco 2. signal transduction GTPase activator activity endometrium(1)|urinary_tract(1) 2 CCATGAGGCTGTCCATCTCGGGGGT 0.659 26 65 --- --- --- ---