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 PLK1 5347 broad.mit.edu 37 16 23690256 23690256 + Translation_Start_Site SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:23690256G>A ENST00000300093.4 + 1 114 c.3G>A c.(1-3)atG>atA p.M1I NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 1 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) TCGGGAGCATGAGTGCTGCAG 0.682000 3 3 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30965216 30965216 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:30965216G>A ENST00000295055.8 - 14 1631 c.1455C>T c.(1453-1455)agC>agT p.S485S CAPN13_ENST00000534090.2_Silent_p.S485S NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 485 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TGAAATGGCTGCTCAGGTGCC 0.532000 5 8 0 0 1 0 0 CDH5 1003 broad.mit.edu 37 16 66432402 66432402 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:66432402G>A ENST00000341529.3 + 10 1677 c.1529G>A c.(1528-1530)cGa>cAa p.R510Q CDH5_ENST00000539168.1_5'UTR NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 510 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) ATAACACCACGAAACGTGAAG 0.488000 16 35 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50717351 50717351 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr22:50717351C>T ENST00000449103.1 - 28 4619 c.4479G>A c.(4477-4479)aaG>aaA p.K1493K PLXNB2_ENST00000359337.4_Silent_p.K1493K O15031 PLXB2_HUMAN plexin B2 1493 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGTCAATGATCTTCTCCTTGA 0.642000 11 31 0 0 1 0 0 ERGIC2 51290 broad.mit.edu 37 12 29498396 29498396 + Nonsense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:29498396G>A ENST00000360150.4 - 11 880 c.805C>T c.(805-807)Cag>Tag p.Q269* NM_016570.2 NP_057654.2 Q96RQ1 ERGI2_HUMAN ERGIC and golgi 2 269 vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184) Arsenic trioxide(DB01169) ACAGAAAACTGATGGGTGTCT 0.303000 42 91 0 0 1 0 0 FKBP8 23770 broad.mit.edu 37 19 18650429 18650429 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:18650429C>G ENST00000608443.1 - 3 593 c.394G>C c.(394-396)Gag>Cag p.E132Q FKBP8_ENST00000597960.3_Missense_Mutation_p.E132Q|FKBP8_ENST00000222308.4_Missense_Mutation_p.E132Q|FKBP8_ENST00000596558.2_Missense_Mutation_p.E132Q|FKBP8_ENST00000453489.2_Missense_Mutation_p.E161Q|FKBP8_ENST00000610101.1_Intron Q14318 FKBP8_HUMAN FK506 binding protein 8, 38kDa PPIase FKBP-type. apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 GTGCCATTCTCCAGCGACGTC 0.667000 71 83 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115610376 115610376 + Nonsense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:115610376G>C ENST00000361384.2 - 2 1405 c.488C>G c.(487-489)tCa>tGa p.S163* DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.S163* NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 163 Nuclear localization region. cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) AGGAATGGTTGAGGTACACAG 0.408000 Other identified genes with known or suspected DNA repair function 9 20 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147090999 147090999 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:147090999G>C ENST00000234739.3 + 8 1778 c.1038G>C c.(1036-1038)gaG>gaC p.E346D NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 346 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CACTGGGAGAGAATCCCGATG 0.577000 T """IGH@, IGL@""" B-ALL 74 167 0 0 1 0 0 COQ3 51805 broad.mit.edu 37 6 99823896 99823896 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:99823896C>G ENST00000254759.3 - 5 673 c.649G>C c.(649-651)Gat>Cat p.D217H COQ3_ENST00000369240.1_Intron|COQ3_ENST00000369242.1_Intron NM_017421.3 NP_059117.3 Q9NZJ6 COQ3_HUMAN coenzyme Q3 methyltransferase 217 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity p.D217H(1) cervix(1)|lung(5)|upper_aerodigestive_tract(2) 8 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) ACAACAGCATCAAATGTTTCT 0.388000 40 116 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74005847 74005847 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:74005847C>T ENST00000301607.3 - 22 3692 c.3439G>A c.(3439-3441)Ggg>Agg p.G1147R EVPL_ENST00000586740.1_Missense_Mutation_p.G1169R NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1147 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TGGAGGAGCCCTGGGTCCTGC 0.632000 30 55 0 0 1 0 0 ENOX2 10495 broad.mit.edu 37 X 129771250 129771250 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chrX:129771250C>G ENST00000338144.3 - 12 1768 c.1351G>C c.(1351-1353)Gaa>Caa p.E451Q ENOX2_ENST00000394363.1_Missense_Mutation_p.E422Q|ENOX2_ENST00000370935.1_Missense_Mutation_p.E422Q|ENOX2_ENST00000370927.1_Missense_Mutation_p.E451Q NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 451 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 AGCTGCTGTTCTTTGTTAGGG 0.473000 83 44 0 0 1 0 0 DDX20 11218 broad.mit.edu 37 1 112308378 112308378 + Silent SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:112308378G>C ENST00000475700.1 + 3 2514 c.156G>C c.(154-156)ctG>ctC p.L52L DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000369702.4_Silent_p.L444L Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 444 assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTCTGGTCTGATGGAAGAAT 0.353000 38 74 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 75017811 75017811 + Nonsense_Mutation SNP G G A rs137854855 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:75017811G>A ENST00000261978.4 - 7 2028 c.1642C>T c.(1642-1644)Cga>Tga p.R548* LTBP2_ENST00000556690.1_Nonsense_Mutation_p.R548*|LTBP2_ENST00000557425.1_5'UTR NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 548 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) AGCAGTCCTCGAGGCCTGGGT 0.652000 15 39 0 0 1 0 0 CCDC101 112869 broad.mit.edu 37 16 28601977 28601977 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:28601977G>C ENST00000317058.3 + 8 779 c.592G>C c.(592-594)Gaa>Caa p.E198Q NM_138414.2 NP_612423.1 Q96ES7 SGF29_HUMAN coiled-coil domain containing 101 198 SGF29 C-terminal. establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex methylated histone residue binding central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 CATCGATGAAGAAGGCAAAGA 0.577000 77 138 0 0 1 0 0 HIST1H2AK 8330 broad.mit.edu 37 6 27805964 27805964 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:27805964G>A ENST00000330180.2 - 1 153 c.154C>T c.(154-156)Ctg>Ttg p.L52L NM_003510.2 NP_003501.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ak 52 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2) 10 ACCGCCGCCAGGTACACCGGC 0.652000 4 63 0 0 1 0 0 VPS9D1 9605 broad.mit.edu 37 16 89779125 89779125 + Splice_Site SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:89779125C>T ENST00000561976.1 - 4 599 c.e4-1 VPS9D1_ENST00000389386.3_Splice_Site|VPS9D1-AS1_ENST00000562866.1_RNA VPS9 domain containing 1 CGTCAGCTCTCTGGAAATGTG 0.607000 9 26 0 0 1 0 0 PSG1 5669 broad.mit.edu 37 19 43372352 43372352 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:43372352G>A ENST00000244296.2 - 5 1281 c.1144C>T c.(1144-1146)Cgc>Tgc p.R382C PSG1_ENST00000595124.1_Missense_Mutation_p.R289C|PSG1_ENST00000436291.2_Missense_Mutation_p.R382C|PSG1_ENST00000595356.1_Missense_Mutation_p.R382C|PSG1_ENST00000312439.6_Missense_Mutation_p.R382C|PSG1_ENST00000403380.3_Missense_Mutation_p.R289C NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) GTAATATGGCGGATAAAGAGC 0.463000 87 198 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54647809 54647809 + Missense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:54647809G>T ENST00000406403.1 + 5 1929 c.326G>T c.(325-327)gGc>gTc p.G109V CNOT3_ENST00000221232.5_Missense_Mutation_p.G109V|CNOT3_ENST00000358389.3_5'UTR O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 109 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GAGGGCCTGGGCCTGGCCCAG 0.547000 22 55 2.37509e-13 2.50143e-13 1 1 0 CLEC10A 10462 broad.mit.edu 37 17 6980295 6980295 + Nonsense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:6980295G>A ENST00000576617.1 - 4 465 c.196C>T c.(196-198)Cag>Tag p.Q66* CLEC10A_ENST00000571664.1_Nonsense_Mutation_p.Q66*|CLEC10A_ENST00000416562.2_Nonsense_Mutation_p.Q66*|CLEC10A_ENST00000254868.4_Nonsense_Mutation_p.Q66* Q8IUN9 CLC10_HUMAN C-type lectin domain family 10, member A 66 endocytosis|innate immune response integral to membrane|plasma membrane sugar binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 AGGTCCCTCTGAAATTTGGAA 0.517000 32 47 0 0 1 0 0 PIGN 23556 broad.mit.edu 37 18 59824982 59824982 + Missense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:59824982G>T ENST00000357637.5 - 5 696 c.281C>A c.(280-282)tCt>tAt p.S94Y PIGN_ENST00000400334.3_Missense_Mutation_p.S94Y NM_176787.4 NP_789744.1 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, class N 94 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(73;0.187) ACCTGGCCGAGATTCTGTTGG 0.378000 5 20 0.000602214 0.000608359 1 1 0 MARCH6 10299 broad.mit.edu 37 5 10402684 10402684 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr5:10402684C>G ENST00000274140.5 + 14 1294 c.1162C>G c.(1162-1164)Ctc>Gtc p.L388V MARCH6_ENST00000503788.1_Missense_Mutation_p.L283V|MARCH6_ENST00000510792.1_Missense_Mutation_p.L86V|MARCH6_ENST00000449913.2_Missense_Mutation_p.L340V NM_005885.3 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 388 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 AGTATTCCCTCTCATTTGTGG 0.358000 86 183 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73572328 73572328 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:73572328G>C ENST00000224721.6 + 66 9492 c.9487G>C c.(9487-9489)Gag>Cag p.E3163Q CDH23_ENST00000398788.3_Missense_Mutation_p.E918Q|CDH23_ENST00000475158.1_3'UTR NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 3158 calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GAACCTGAGTGAGATCGCCGA 0.642000 39 72 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72292403 72292403 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:72292403G>A ENST00000334456.5 - 23 2288 c.2043C>T c.(2041-2043)ctC>ctT p.L681L PDE2A_ENST00000540345.1_Silent_p.L672L|PDE2A_ENST00000444035.2_Silent_p.L672L|PDE2A_ENST00000418754.2_Silent_p.L566L|PDE2A_ENST00000376450.3_Silent_p.L425L|PDE2A_ENST00000544570.1_Silent_p.L674L NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 681 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CCACTCACTCGAGGTAGTTGG 0.602000 16 30 0 0 1 0 0 LRFN1 57622 broad.mit.edu 37 19 39798949 39798949 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:39798949G>C ENST00000248668.4 - 2 1639 c.1640C>G c.(1639-1641)tCg>tGg p.S547W NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 547 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GACGAGGACCGAGGCGACGAT 0.667000 11 34 0 0 1 0 0 PARD6A 50855 broad.mit.edu 37 16 67696116 67696116 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:67696116G>A ENST00000458121.2 + 3 695 c.604G>A c.(604-606)Gct>Act p.A202T PARD6A_ENST00000219255.3_Missense_Mutation_p.A203T|PARD6A_ENST00000602551.1_Missense_Mutation_p.A173T NM_001037281.1|NM_016948.2 NP_001032358.1|NP_058644.1 Q9NPB6 PAR6A_HUMAN par-6 family cell polarity regulator alpha 203 Interaction with PARD3 and CDC42 (By similarity).|PDZ. cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) TGGGGGTCTGGCTGAGAGTAC 0.597000 39 67 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65104787 65104787 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:65104787G>A ENST00000358691.5 - 30 4711 c.4545C>T c.(4543-4545)ttC>ttT p.F1515F HELZ_ENST00000580168.1_Silent_p.F1516F NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TCCACTGCTGGAACCGTGCCT 0.502000 37 61 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091193 29091193 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr22:29091193G>C ENST00000544772.1 - 13 2070 c.634C>G c.(634-636)Caa>Gaa p.Q212E CHEK2_ENST00000402731.1_Missense_Mutation_p.Q404E|CHEK2_ENST00000405598.1_Missense_Mutation_p.Q433E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.Q476E|CHEK2_ENST00000382578.1_Missense_Mutation_p.Q342E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.Q404E|CHEK2_ENST00000328354.6_Missense_Mutation_p.Q433E|CHEK2_ENST00000404276.1_Missense_Mutation_p.Q433E|CHEK2_ENST00000403642.1_Missense_Mutation_p.Q342E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 433 cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 AGTGACACTTGAGTCCTATGC 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 11 28 0 0 1 0 0 SAMD11 148398 broad.mit.edu 37 1 865617 865617 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:865617C>G ENST00000342066.3 + 3 238 c.155C>G c.(154-156)tCt>tGt p.S52C AL645608.1_ENST00000598827.1_Missense_Mutation_p.R42T NM_152486.2 NP_689699 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 52 nucleus breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CCCAGCTTCTCTGCCAGCGAT 0.657000 6 20 0 0 1 0 0 DDIT4L 115265 broad.mit.edu 37 4 101109268 101109268 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr4:101109268C>T ENST00000273990.2 - 3 362 c.148G>A c.(148-150)Gag>Aag p.E50K RP11-15B17.1_ENST00000515026.1_RNA NM_145244.3 NP_660287.1 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like 50 negative regulation of signal transduction cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2) 12 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) GTTGATTCCTCAAATATTACC 0.368000 45 72 0 0 1 0 0 TTLL8 164714 broad.mit.edu 37 22 50470355 50470355 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr22:50470355G>A ENST00000266182.6 - 11 1466 c.1467C>T c.(1465-1467)caC>caT p.H489H TTLL8_ENST00000440475.1_Silent_p.H469H tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) CCTTCATGGCGTGGGCGATGG 0.642000 25 36 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61328322 61328322 + Missense_Mutation SNP T T A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:61328322T>A ENST00000283752.5 - 2 272 c.129A>T c.(127-129)ttA>ttT p.L43F SERPINB3_ENST00000332821.8_Missense_Mutation_p.L43F|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 43 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 CTTTGGCTCCTAAGAGGACCA 0.438000 40 100 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 5 48 0 0 1 0 0 CYP3A4 1576 broad.mit.edu 37 7 99367796 99367796 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:99367796C>T ENST00000336411.2 - 5 564 c.381G>A c.(379-381)aaG>aaA p.K127K CYP3A4_ENST00000354593.2_Intron NM_001202855.2|NM_017460.5 NP_001189784.1|NP_059488.2 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 127 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) ATCGTAATCTCTTCCATTCTT 0.378000 34 58 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132182552 132182552 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:132182552G>C ENST00000260818.6 + 17 2031 c.1783G>C c.(1783-1785)Gaa>Caa p.E595Q DNAJC13_ENST00000486798.1_3'UTR NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 595 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 AGGTGATAAAGAAATTGCTAC 0.383000 24 42 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120208662 120208662 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:120208662C>T ENST00000392521.2 - 18 2190 c.2135G>A c.(2134-2136)cGt>cAt p.R712H CIT_ENST00000261833.7_Intron|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 694 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity p.R713H(1) breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GTTTTCTCTACGCTCCATGGT 0.438000 30 76 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69693744 69693744 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:69693744C>G ENST00000349945.1 + 8 2581 c.1029C>G c.(1027-1029)atC>atG p.I343M NFAT5_ENST00000432919.1_Missense_Mutation_p.I437M|NFAT5_ENST00000566899.1_Missense_Mutation_p.I343M|NFAT5_ENST00000567239.1_Missense_Mutation_p.I437M|NFAT5_ENST00000354436.2_Missense_Mutation_p.I419M|NFAT5_ENST00000393742.2_Missense_Mutation_p.I343M NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 419 RHD. excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GAGTTAATATCATGAGGAAAG 0.398000 46 61 0 0 1 0 0 PIANP 196500 broad.mit.edu 37 12 6806635 6806635 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:6806635C>T ENST00000534837.1 - 3 570 c.341G>A c.(340-342)cGa>cAa p.R114Q PIANP_ENST00000540656.1_Missense_Mutation_p.R114Q|PIANP_ENST00000320591.5_Missense_Mutation_p.R114Q NM_001244014.1 NP_001230943.1 PILR alpha associated neural protein TCCATCCTCTCGAGACACGGT 0.632000 16 24 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40063789 40063789 + Missense_Mutation SNP G G A rs139584437 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:40063789G>A ENST00000352035.2 - 7 783 c.653C>T c.(652-654)gCg>gTg p.A218V ACLY_ENST00000590151.1_Missense_Mutation_p.A218V|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Missense_Mutation_p.A218V|ACLY_ENST00000393896.2_Missense_Mutation_p.A218V NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 218 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CACCTTGGCCGCCAAGTCAAG 0.567000 4 90 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091207 29091207 + Missense_Mutation SNP G G A rs137853011 byFrequency TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr22:29091207G>A ENST00000544772.1 - 13 2056 c.620C>T c.(619-621)tCt>tTt p.S207F CHEK2_ENST00000402731.1_Missense_Mutation_p.S399F|CHEK2_ENST00000405598.1_Missense_Mutation_p.S428F|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.S471F|CHEK2_ENST00000382578.1_Missense_Mutation_p.S337F|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.S399F|CHEK2_ENST00000328354.6_Missense_Mutation_p.S428F|CHEK2_ENST00000404276.1_Missense_Mutation_p.S428F|CHEK2_ENST00000403642.1_Missense_Mutation_p.S337F NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 428 cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCTATGCTCAGAGAAAGGTGG 0.398000 F breast Direct reversal of damage;Other conserved DNA damage response genes 11 29 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 47 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531056 92531056 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:92531056G>A ENST00000298047.6 + 9 4894 c.4877G>A c.(4876-4878)tGc>tAc p.C1626Y FAT3_ENST00000525166.1_Missense_Mutation_p.C1476Y|FAT3_ENST00000409404.2_Missense_Mutation_p.C1626Y Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1626 Cadherin 15. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATCACCATTTGCAAAGAACCA 0.453000 TCGA Ovarian(4;0.039) 47 73 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64032574 64032574 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:64032574C>T ENST00000540288.1 + 23 2907 c.2804C>T c.(2803-2805)cCa>cTa p.P935L PLCB3_ENST00000279230.6_Missense_Mutation_p.P935L|PLCB3_ENST00000325234.5_Missense_Mutation_p.P868L NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 935 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 CTCAGCAGCCCAGGTAAGGAG 0.721000 3 4 0 0 1 0 0 PDE12 201626 broad.mit.edu 37 3 57543222 57543222 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:57543222G>A ENST00000311180.8 + 1 1219 c.1116G>A c.(1114-1116)ggG>ggA p.G372G PDE12_ENST00000487257.1_Silent_p.G372G NM_177966.5 NP_808881.3 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 372 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) GGCTCGAGGGGGTGTTTCGAA 0.547000 11 42 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41556722 41556722 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr22:41556722C>G ENST00000263253.7 + 20 4886 c.3667C>G c.(3667-3669)Caa>Gaa p.Q1223E NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1223 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.Y1198_L1243del(1) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TTCCCAGCCTCAAACGTAAGT 0.413000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 26 41 0 0 1 0 0 OR5F1 338674 broad.mit.edu 37 11 55761768 55761768 + Missense_Mutation SNP A A G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:55761768A>G ENST00000278409.1 - 1 333 c.334T>C c.(334-336)Tgc>Cgc p.C112R NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) AAGAGGATGCATTCGGTTGTC 0.473000 42 103 0 0 1 0 0 LGI3 203190 broad.mit.edu 37 8 22005745 22005745 + Missense_Mutation SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:22005745C>A ENST00000306317.2 - 8 1864 c.1575G>T c.(1573-1575)caG>caT p.Q525H LGI3_ENST00000424267.2_Missense_Mutation_p.Q501H NM_139278.2 NP_644807.1 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 525 exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 17 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) CCAGGAGTAGCTGGGCGTCCC 0.607000 34 39 7.11191e-15 7.51686e-15 1 1 0 FANCA 2175 broad.mit.edu 37 16 89845229 89845229 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:89845229C>T ENST00000389301.3 - 20 1836 c.1806G>A c.(1804-1806)gcG>gcA p.A602A FANCA_ENST00000568369.1_Silent_p.A602A|FANCA_ENST00000567284.2_5'UTR NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 602 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) ACTCTATAAACGCCACACGGG 0.478000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 44 84 0 0 1 0 0 TTC16 158248 broad.mit.edu 37 9 130482603 130482603 + Nonsense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr9:130482603G>T ENST00000373289.3 + 6 666 c.586G>T c.(586-588)Gag>Tag p.E196* TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Nonsense_Mutation_p.E20*|PTRH1_ENST00000429848.1_Intron NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 196 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 CATCACCAACGAGCTGAAGCA 0.622000 50 37 4.18559e-23 4.4878e-23 1 1 0 SIPA1L1 26037 broad.mit.edu 37 14 72125097 72125097 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:72125097G>A ENST00000555818.1 + 6 2389 c.2041G>A c.(2041-2043)Gaa>Aaa p.E681K SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E681K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E681K|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E156K NM_001284247.1|NM_015556.1 NP_001271176.1|NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 681 Rap-GAP. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CAAAGATTATGAAATTATGTT 0.348000 20 35 0 0 1 0 0 OR4P4 81300 broad.mit.edu 37 11 55406520 55406520 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:55406520G>C ENST00000314612.2 + 1 687 c.687G>C c.(685-687)gaG>gaC p.E229D NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 ACTCTGCAGAGAGACGCAGCA 0.383000 26 56 0 0 1 0 0 ZNF454 285676 broad.mit.edu 37 5 178392337 178392337 + Missense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr5:178392337G>T ENST00000320129.3 + 5 1235 c.932G>T c.(931-933)tGc>tTc p.C311F ZNF454_ENST00000519564.1_Missense_Mutation_p.C311F NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) GCCTTTGTGTGCAGGGCACAC 0.378000 21 22 7.33628e-21 7.83768e-21 1 1 0 FAM208A 23272 broad.mit.edu 37 3 56680888 56680888 + Missense_Mutation SNP T T C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:56680888T>C ENST00000431842.2 - 7 1613 c.689A>G c.(688-690)aAt>aGt p.N230S FAM208A_ENST00000355628.5_Missense_Mutation_p.N626S|FAM208A_ENST00000493960.2_Missense_Mutation_p.N626S NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 626 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 AAGTTTTCTATTTTCTTCAAA 0.299000 9 25 0 0 1 0 0 DGAT1 8694 broad.mit.edu 37 8 145540687 145540687 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:145540687C>G ENST00000332324.4 - 15 1519 c.1246G>C c.(1246-1248)Gag>Cag p.E416Q DGAT1_ENST00000527438.1_5'UTR NM_012079.4 NP_036211.2 O75907 DGAT1_HUMAN diacylglycerol O-acyltransferase 1 416 triglyceride biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) GCACTGACCTCGTGGAAGAAG 0.647000 19 37 0 0 1 0 0 PSMD11 5717 broad.mit.edu 37 17 30807212 30807212 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:30807212C>T ENST00000261712.3 + 12 1386 c.1123C>T c.(1123-1125)Cat>Tat p.H375Y PSMD11_ENST00000457654.2_Missense_Mutation_p.H375Y NM_001270482.1|NM_002815.3 NP_001257411.1|NP_002806.2 O00231 PSD11_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 375 PCI. 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 ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) CAAGAAATTTCATGGTAAGTA 0.408000 46 81 0 0 1 0 0 ENTPD7 57089 broad.mit.edu 37 10 101460767 101460767 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:101460767G>A ENST00000370489.4 + 11 1551 c.1373G>A c.(1372-1374)aGa>aAa p.R458K NM_020354.3 NP_065087.1 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 7 458 cytoplasmic vesicle membrane|integral to membrane hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 18 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) CTAACTCAGAGATTCAAGAAT 0.443000 86 168 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51021654 51021654 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:51021654G>A ENST00000599957.1 - 3 1513 c.1316C>T c.(1315-1317)aCg>aTg p.T439M LRRC4B_ENST00000389201.3_Missense_Mutation_p.T439M Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 439 Ig-like C2-type. cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GGCTGAGTTCGTCACCATGCA 0.706000 29 48 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48622525 48622525 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:48622525G>C ENST00000328333.8 - 32 4026 c.3919C>G c.(3919-3921)Cca>Gca p.P1307A COL7A1_ENST00000454817.1_Missense_Mutation_p.P1307A NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1307 Interrupted collagenous region.|Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGCTGCCTGGACGCCCATCT 0.682000 16 41 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95392461 95392461 + Nonsense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:95392461G>C ENST00000336148.5 - 12 2283 c.2159C>G c.(2158-2160)tCa>tGa p.S720* NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) ACCAGCTTTTGAACTTAACAA 0.368000 Direct reversal of damage;Homologous recombination 11 24 0 0 1 0 0 DUSP28 285193 broad.mit.edu 37 2 241500413 241500413 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:241500413G>C ENST00000405954.1 + 1 695 c.312G>C c.(310-312)aaG>aaC p.K104N ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405002.1_5'UTR|DUSP28_ENST00000343217.2_Missense_Mutation_p.K104N|ANKMY1_ENST00000403283.1_5'UTR Q4G0W2 DUS28_HUMAN dual specificity phosphatase 28 104 Tyrosine-protein phosphatase. protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity lung(2)|upper_aerodigestive_tract(1) 3 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311) TCTACTGCAAGAACGGCCGCA 0.741000 4 12 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26558051 26558051 + Silent SNP G G T rs149629039 byFrequency TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:26558051G>T ENST00000376261.3 + 9 1427 c.924G>T c.(922-924)ggG>ggT p.G308G GAD2_ENST00000259271.3_Silent_p.G308G NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 308 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) CTTCCAGAGGGAAAATGATTC 0.403000 17 42 9.16793e-09 9.45443e-09 1 1 0 SIK3 23387 broad.mit.edu 37 11 116741051 116741051 + Nonsense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:116741051G>A ENST00000375300.1 - 14 1809 c.1804C>T c.(1804-1806)Cag>Tag p.Q602* SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000292055.4_Nonsense_Mutation_p.Q544*|SIK3_ENST00000434315.2_Nonsense_Mutation_p.Q443*|SIK3_ENST00000446921.2_Nonsense_Mutation_p.Q554*|SIK3_ENST00000542607.1_Nonsense_Mutation_p.Q496* Q9Y2K2 SIK3_HUMAN SIK family kinase 3 544 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 CATTACCTCTGCACAGCTTCC 0.592000 OREG0003489 type=REGULATORY REGION|Gene=BC063887|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 12 27 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24930608 24930608 + Nonsense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:24930608G>T ENST00000405141.1 + 14 2980 c.2269G>T c.(2269-2271)Gag>Tag p.E757* NCOA1_ENST00000348332.3_Nonsense_Mutation_p.E757*|NCOA1_ENST00000395856.3_Nonsense_Mutation_p.E757*|NCOA1_ENST00000538539.1_Nonsense_Mutation_p.E757*|NCOA1_ENST00000406961.1_Nonsense_Mutation_p.E757*|NCOA1_ENST00000288599.5_Nonsense_Mutation_p.E757*|NCOA1_ENST00000407230.1_Nonsense_Mutation_p.E606* Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 757 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGATAAAGATGAGAAAGATTT 0.378000 T PAX3 alveolar rhadomyosarcoma 12 25 6.42651e-13 6.74443e-13 1 1 0 RTFDC1 51507 broad.mit.edu 37 20 55088466 55088466 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr20:55088466G>A ENST00000023939.4 + 6 680 c.573G>A c.(571-573)ctG>ctA p.L191L RTFDC1_ENST00000395881.3_Silent_p.L191L|GCNT7_ENST00000243913.4_Intron|RTFDC1_ENST00000357348.5_Silent_p.L221L NM_001283035.1|NM_001283036.1|NM_016407.3 NP_001269964.1|NP_001269965.1|NP_057491.2 replication termination factor 2 domain containing 1 AGAGAAGGCTGAGAGCGAAGC 0.562000 3 14 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47379927 47379927 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:47379927C>T ENST00000285039.7 - 31 4412 c.4113G>A c.(4111-4113)gaG>gaA p.E1371E MYO5B_ENST00000324581.6_Silent_p.E486E NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1371 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GTTTGTCCATCTCCTCCTTCA 0.617000 21 51 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6639338 6639338 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:6639338C>T ENST00000333172.6 + 6 2413 c.2220C>T c.(2218-2220)atC>atT p.I740I TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Silent_p.I486I NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 740 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) TCCTCTCCATCAGTGCCTTTG 0.547000 18 52 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27746258 27746258 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:27746258G>C ENST00000264717.2 + 19 1893 c.1830G>C c.(1828-1830)caG>caC p.Q610H GCKR_ENST00000424318.2_Missense_Mutation_p.Q420H NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 610 carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) GGCCAGGTCAGAAGCGCACTG 0.612000 13 54 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6639332 6639332 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:6639332C>T ENST00000333172.6 + 6 2407 c.2214C>T c.(2212-2214)ctC>ctT p.L738L TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Silent_p.L484L NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 738 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) ATGGCCTCCTCTCCATCAGTG 0.542000 18 48 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136562346 136562346 + Silent SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:136562346G>T ENST00000264162.2 - 10 4465 c.4455C>A c.(4453-4455)atC>atA p.I1485I NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1485 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CCTGGGGCTGGATGCTGGCGG 0.562000 18 41 4.96729e-08 5.10479e-08 1 1 0 KCNS1 3787 broad.mit.edu 37 20 43723922 43723922 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr20:43723922G>A ENST00000306117.1 - 5 1566 c.1170C>T c.(1168-1170)ttC>ttT p.F390F KCNS1_ENST00000537075.1_Silent_p.F390F NM_002251.3 NP_002242.2 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 390 voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding endometrium(1)|lung(3)|ovary(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) CCACACCAGAGAACACTGACA 0.567000 14 40 0 0 1 0 0 PSMD6 9861 broad.mit.edu 37 3 64009039 64009039 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:64009039G>C ENST00000492933.1 - 1 109 c.57C>G c.(55-57)atC>atG p.I19M PSMD6_ENST00000394431.2_Intron|PSMD6_ENST00000295901.4_Missense_Mutation_p.I19M|PSMD6_ENST00000482510.1_Intron NM_001271779.1 NP_001258708.1 Q15008 PSMD6_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 19 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 ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex ATPase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1) 13 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212) GCAGCTGCGCGATACGCAAGT 0.672000 12 17 0 0 1 0 0 DIRC2 84925 broad.mit.edu 37 3 122598123 122598123 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:122598123C>T ENST00000261038.5 + 9 1733 c.1335C>T c.(1333-1335)ttC>ttT p.F445F NM_032839.2 NP_116228.1 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 445 transport integral to membrane endometrium(2)|large_intestine(1)|lung(14)|prostate(1) 18 GBM - Glioblastoma multiforme(114;0.0614) TGTCTTGGTTCAACTGGTGCC 0.463000 103 189 0 0 1 0 0 HMGB1 3146 broad.mit.edu 37 13 31037474 31037474 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr13:31037474C>G ENST00000405805.1 - 3 1106 c.166G>C c.(166-168)Gag>Cag p.E56Q HMGB1_ENST00000399494.1_Missense_Mutation_p.E56Q|HMGB1_ENST00000399489.1_Missense_Mutation_p.E56Q|HMGB1_ENST00000326004.4_Missense_Mutation_p.E56Q|HMGB1_ENST00000341423.5_Missense_Mutation_p.E56Q|HMGB1_ENST00000339872.4_Missense_Mutation_p.E56Q|HMGB1_ENST00000468384.1_5'UTR P09429 HMGB1_HUMAN high mobility group box 1 56 base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1) 8 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) TTTCCTTTCTCTTTAGCAGAC 0.333000 31 36 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149152725 149152725 + Missense_Mutation SNP T T G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:149152725T>G ENST00000247930.4 - 2 712 c.389A>C c.(388-390)cAc>cCc p.H130P NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 130 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) TTCAGGGGAGTGAACGGGGGC 0.612000 98 192 0 0 1 0 0 SUPT7L 9913 broad.mit.edu 37 2 27884012 27884012 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:27884012C>T ENST00000337768.5 - 3 827 c.258G>A c.(256-258)caG>caA p.Q86Q SUPT7L_ENST00000404798.2_Intron|SUPT7L_ENST00000405491.1_Silent_p.Q84Q|SUPT7L_ENST00000464789.2_Silent_p.Q84Q|SUPT7L_ENST00000406540.1_Silent_p.Q84Q NM_001282729.1|NM_014860.1 NP_001269658.1|NP_055675.1 O94864 ST65G_HUMAN suppressor of Ty 7 (S. cerevisiae)-like 86 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 16 Acute lymphoblastic leukemia(172;0.155) GCTGCTGATTCTGGGCCTGAG 0.517000 16 47 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64033997 64033997 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:64033997C>T ENST00000540288.1 + 29 3490 c.3387C>T c.(3385-3387)atC>atT p.I1129I PLCB3_ENST00000279230.6_Silent_p.I1129I|PLCB3_ENST00000325234.5_Silent_p.I1062I NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 1129 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 GTCGGCACATCACTGAGTCAG 0.632000 28 57 0 0 1 0 0 CCDC120 90060 broad.mit.edu 37 X 48925325 48925325 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chrX:48925325G>C ENST00000376396.3 + 10 1789 c.1570G>C c.(1570-1572)Gaa>Caa p.E524Q CCDC120_ENST00000536628.2_Missense_Mutation_p.E512Q|CCDC120_ENST00000603986.1_Missense_Mutation_p.E559Q|CCDC120_ENST00000496529.2_Missense_Mutation_p.E524Q|CCDC120_ENST00000597275.1_Missense_Mutation_p.E524Q|CCDC120_ENST00000422185.2_Missense_Mutation_p.E524Q NM_001271835.1|NM_001271836.1|NM_033626.2 NP_001258764.1|NP_001258765.1|NP_296375.1 Q96HB5 CC120_HUMAN coiled-coil domain containing 120 524 Pro-rich. protein binding breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 AGAGGCTGCCGAAGGCCCTGA 0.657000 4 0 0 0 1 0 0 HAX1 10456 broad.mit.edu 37 1 154245817 154245817 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:154245817G>A ENST00000328703.7 + 2 272 c.59G>A c.(58-60)aGa>aAa p.R20K HAX1_ENST00000483970.2_Missense_Mutation_p.R20K|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 20 Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTCAGCCACAGAGATCCCTTT 0.493000 Kostmann syndrome 31 114 0 0 1 0 0 AP5Z1 9907 broad.mit.edu 37 7 4830402 4830402 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:4830402C>T ENST00000348624.4 + 16 2131 c.2037C>T c.(2035-2037)ttC>ttT p.F679F AP5Z1_ENST00000490487.1_Intron NM_014855.2 NP_055670.1 O43299 K0415_HUMAN adaptor-related protein complex 5, zeta 1 subunit 679 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding CTCTGCTATTCGAGGTCACCC 0.647000 8 11 0 0 1 0 0 ODF2L 57489 broad.mit.edu 37 1 86842058 86842058 + Missense_Mutation SNP A A G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:86842058A>G ENST00000359242.3 - 8 949 c.668T>C c.(667-669)aTg>aCg p.M223T ODF2L_ENST00000370566.3_Missense_Mutation_p.M223T|ODF2L_ENST00000317336.7_Missense_Mutation_p.M223T|ODF2L_ENST00000394731.1_Missense_Mutation_p.M92T|ODF2L_ENST00000294678.2_Missense_Mutation_p.M223T|ODF2L_ENST00000370567.1_Missense_Mutation_p.M223T NM_001007022.2 NP_001007023.2 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like 223 centrosome endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) ATTCTTATTCATTCTTGATTG 0.313000 11 25 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31895930 31895930 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:31895930C>T ENST00000556679.1 + 2 300 c.245C>T c.(244-246)gCg>gTg p.A82V C2_ENST00000299367.5_Missense_Mutation_p.A82V|CFB_ENST00000456570.1_Missense_Mutation_p.A82V|C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Missense_Mutation_p.A82V|C2_ENST00000418949.2_Missense_Mutation_p.A82V|C2_ENST00000442278.2_Intron P00751 CFAB_HUMAN complement factor B 156 Sushi 1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CTGTCTAAGGCGGTCTGCAAA 0.612000 3 13 0 0 1 0 0 MYL6 4637 broad.mit.edu 37 12 56552259 56552259 + Missense_Mutation SNP G G A rs78564374 byFrequency TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:56552259G>A ENST00000536128.1 + 1 114 c.74G>A c.(73-75)gGa>gAa p.G25E MYL6_ENST00000548580.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.G25E|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548293.1_Intron P60660 MYL6_HUMAN myosin, light chain 6, alkali, smooth muscle and non-muscle 0 EF-hand 1. axon guidance|muscle filament sliding|skeletal muscle tissue development cytosol|unconventional myosin complex actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(18;0.0979) GGGGGGCGAGGAGAAGGCAGG 0.642000 12 38 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169623541 169623541 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:169623541C>T ENST00000366787.3 - 19 3052 c.2803G>A c.(2803-2805)Gat>Aat p.D935N XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 935 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) TTGTCAAAATCATCTTTACAA 0.418000 28 54 0 0 1 0 0 MAN2A1 4124 broad.mit.edu 37 5 109051929 109051929 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr5:109051929C>G ENST00000261483.4 + 3 1551 c.499C>G c.(499-501)Caa>Gaa p.Q167E NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 167 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TGAACCCCTTCAAGTCTTTGT 0.378000 24 26 0 0 1 0 0 NDC80 10403 broad.mit.edu 37 18 2608705 2608705 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:2608705G>C ENST00000261597.4 + 15 1746 c.1564G>C c.(1564-1566)Gag>Cag p.E522Q NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 522 Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 ATAGGAAGCAGAGGAAGAGGA 0.388000 24 40 0 0 1 0 0 CCDC181 57821 broad.mit.edu 37 1 169390861 169390861 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:169390861C>G ENST00000545005.1 - 4 1315 c.808G>C c.(808-810)Gaa>Caa p.E270Q CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.E270Q|CCDC181_ENST00000367806.3_Missense_Mutation_p.E270Q coiled-coil domain containing 181 GTAGAATCTTCTTTCTTGGTG 0.468000 50 170 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94964104 94964104 + Missense_Mutation SNP G G C rs61757459 byFrequency TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:94964104G>C ENST00000341228.2 - 3 1426 c.631C>G c.(631-633)Cga>Gga p.R211G SERPINA12_ENST00000556881.1_Missense_Mutation_p.R211G NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 211 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) GCCTTACCTCGAAAGAAAATA 0.408000 14 41 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34824635 34824635 + Nonsense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:34824635C>T ENST00000192788.5 + 11 1531 c.1360C>T c.(1360-1362)Cag>Tag p.Q454* UHRF1BP1_ENST00000452449.2_Nonsense_Mutation_p.Q454* NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 454 Q -> R (in dbSNP:rs11755393). breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 GCCTGCCTTTCAGCCTCCAGC 0.502000 22 47 0 0 1 0 0 REG1B 5968 broad.mit.edu 37 2 79312402 79312402 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:79312402C>G ENST00000305089.3 - 6 521 c.441G>C c.(439-441)aaG>aaC p.K147N NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 147 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 CCTTCCATTTCTTGAATCCTA 0.403000 9 18 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183096408 183096408 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:183096408G>A ENST00000258341.4 + 17 3249 c.2992G>A c.(2992-2994)Gat>Aat p.D998N LAMC1_ENST00000466964.1_3'UTR NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 998 Laminin EGF-like 11. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTGCAAAGATGATGGTCGCTG 0.433000 18 54 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28196616 28196616 + Silent SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:28196616G>C ENST00000305242.5 - 17 2678 c.2586C>G c.(2584-2586)ctC>ctG p.L862L ARMC4_ENST00000537576.1_Silent_p.L554L|ARMC4_ENST00000545014.1_Silent_p.L387L NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 862 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TGCATGGACAGAGTGCCCATG 0.448000 21 37 0 0 1 0 0 KLK15 55554 broad.mit.edu 37 19 51329142 51329142 + Silent SNP G G A rs137922291 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:51329142G>A ENST00000326856.4 - 6 807 c.678C>T c.(676-678)gaC>gaT p.D226D KLK15_ENST00000598239.1_Silent_p.D227D|KLK15_ENST00000596931.1_3'UTR|KLK15_ENST00000301421.2_3'UTR|KLK15_ENST00000416184.1_Silent_p.D142D NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 227 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) CACAAGGGACGTCACCCCAGG 0.557000 16 28 0 0 1 0 0 THBS3 7059 broad.mit.edu 37 1 155167286 155167286 + Missense_Mutation SNP G G A rs150568337 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:155167286G>A ENST00000368378.3 - 20 2487 c.2467C>T c.(2467-2469)Cgg>Tgg p.R823W THBS3_ENST00000541990.1_Missense_Mutation_p.R352W|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R703W|THBS3_ENST00000541576.1_Missense_Mutation_p.R220W NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 823 TSP C-terminal. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCAACCGCCCGGAAGGGTGTA 0.612000 5 207 0 0 1 0 0 SUN1 23353 broad.mit.edu 37 7 883181 883181 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:883181C>G ENST00000457378.2 + 7 981 c.745C>G c.(745-747)Cag>Gag p.Q249E SUN1_ENST00000405266.1_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000403868.1_Missense_Mutation_p.Q228E|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000456758.2_Intron|SUN1_ENST00000452783.2_Intron NM_001171945.1 NP_001165416.1 O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 0 EMD-binding.|SYNE2-binding. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTTTAAAACTCAGAAAAAGGT 0.438000 58 108 0 0 1 0 0 EXOC8 149371 broad.mit.edu 37 1 231473425 231473425 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:231473425C>G ENST00000366645.1 - 1 173 c.55G>C c.(55-57)Gag>Cag p.E19Q EXOC8_ENST00000360394.2_Missense_Mutation_p.E23Q|SPRTN_ENST00000391858.4_5'UTR Q8IYI6 EXOC8_HUMAN exocyst complex component 8 23 exocytosis|protein transport growth cone|nucleus protein binding cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1) 14 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) AGCCGCGCCTCAAAACCCCCT 0.667000 35 109 0 0 1 0 0 NPEPL1 79716 broad.mit.edu 37 20 57268967 57268967 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr20:57268967C>G ENST00000356091.6 + 2 613 c.325C>G c.(325-327)Cgc>Ggc p.R109G NPEPL1_ENST00000525817.1_Missense_Mutation_p.R61G|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Missense_Mutation_p.R81G NM_024663.3 NP_078939.3 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 109 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) CGGAGCGCATCGCTGCATTGT 0.701000 8 17 0 0 1 0 0 ZFAND1 79752 broad.mit.edu 37 8 82626198 82626198 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:82626198C>T ENST00000220669.5 - 6 453 c.435G>A c.(433-435)ttG>ttA p.L145L ZFAND1_ENST00000519523.1_Silent_p.L145L|ZFAND1_ENST00000523096.1_Silent_p.L145L|ZFAND1_ENST00000517588.1_Silent_p.L38L|ZFAND1_ENST00000521895.1_Silent_p.L38L|ZFAND1_ENST00000522520.1_Silent_p.L38L|ZFAND1_ENST00000521287.1_Silent_p.L38L NM_024699.2 NP_078975.2 Q8TCF1 ZFAN1_HUMAN zinc finger, AN1-type domain 1 145 zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 TTAATTTCATCAATGCAACCT 0.358000 19 27 0 0 1 0 0 PRMT5 10419 broad.mit.edu 37 14 23397792 23397792 + Missense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:23397792G>T ENST00000324366.8 - 2 366 c.143C>A c.(142-144)cCg>cAg p.P48Q PRMT5_ENST00000216350.8_Missense_Mutation_p.P31Q|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000397441.2_Missense_Mutation_p.P31Q|PRMT5_ENST00000538452.1_Intron|PRMT5_ENST00000397440.4_Missense_Mutation_p.P31Q|PRMT5_ENST00000553897.1_Missense_Mutation_p.P48Q NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 48 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding p.P48L(1)|p.P31L(1) endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) CTTGAAACGCGGATGGAAGAC 0.537000 25 78 3.01185e-09 3.11679e-09 1 1 0 SMCR8 140775 broad.mit.edu 37 17 18221435 18221435 + Missense_Mutation SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:18221435C>A ENST00000406438.3 + 1 2812 c.2332C>A c.(2332-2334)Cag>Aag p.Q778K NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 778 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 TATGGATTTTCAGAAGTGGAA 0.527000 47 92 1.38658e-30 1.49208e-30 1 1 0 CDH11 1009 broad.mit.edu 37 16 65032529 65032529 + Silent SNP A A G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:65032529A>G ENST00000394156.3 - 4 912 c.459T>C c.(457-459)aaT>aaC p.N153N CDH11_ENST00000566827.1_Silent_p.N27N|CDH11_ENST00000268603.4_Silent_p.N153N P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 153 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GAGGGTTGTCATTAATGTCCT 0.582000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 29 55 0 0 1 0 0 TNNT1 7138 broad.mit.edu 37 19 55649415 55649415 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:55649415C>T ENST00000588981.1 - 10 619 c.415G>A c.(415-417)Gag>Aag p.E139K TNNT1_ENST00000356783.5_Missense_Mutation_p.E128K|TNNT1_ENST00000585321.2_Missense_Mutation_p.E69K|TNNT1_ENST00000587758.1_Missense_Mutation_p.E128K|TNNT1_ENST00000587465.2_Missense_Mutation_p.E69K|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000536926.1_Missense_Mutation_p.E128K|TNNT1_ENST00000588426.1_Missense_Mutation_p.E36K|TNNT1_ENST00000291901.8_Missense_Mutation_p.E139K NM_003283.4 NP_003274.3 P13805 TNNT1_HUMAN troponin T type 1 (skeletal, slow) 139 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding endometrium(2)|kidney(3)|lung(4)|ovary(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) TTCTTGGCCTCTTCCTCTTCC 0.567000 43 79 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103357737 103357737 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:103357737G>A ENST00000520539.1 - 8 1379 c.773C>T c.(772-774)tCt>tTt p.S258F UBR5_ENST00000220959.4_Missense_Mutation_p.S258F|UBR5_ENST00000521922.1_Missense_Mutation_p.S258F NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 258 S -> Y (in Ref. 2; AAF88143). cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TGGGTGGGCAGAATGAATGTC 0.413000 17 31 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74616411 74616411 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:74616411G>A ENST00000253159.8 + 12 2162 c.1964G>A c.(1963-1965)aGa>aAa p.R655K ZNF236_ENST00000320610.9_Missense_Mutation_p.R657K NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 655 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) GAAGCAGATAGACCATACAAG 0.348000 19 22 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39828707 39828707 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:39828707G>A ENST00000538976.1 + 3 354 c.172G>A c.(172-174)Gaa>Aaa p.E58K DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000405961.3_Missense_Mutation_p.E58K|DAAM2_ENST00000398904.2_Missense_Mutation_p.E58K|DAAM2_ENST00000274867.4_Missense_Mutation_p.E58K NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 58 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) TTTGCAGGATGAATTGGATCT 0.448000 9 15 0 0 1 0 0 KLHL24 54800 broad.mit.edu 37 3 183368537 183368537 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:183368537C>T ENST00000454652.2 + 4 779 c.393C>T c.(391-393)atC>atT p.I131I KLHL24_ENST00000242810.6_Silent_p.I131I|KLHL24_ENST00000476808.1_Silent_p.I131I NM_017644.3 NP_060114.2 Q6TFL4 KLH24_HUMAN kelch-like family member 24 BTB. axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) AGGTGAAGATCACTACAGAGA 0.408000 6 137 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74616410 74616410 + Missense_Mutation SNP A A G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:74616410A>G ENST00000253159.8 + 12 2161 c.1963A>G c.(1963-1965)Aga>Gga p.R655G ZNF236_ENST00000320610.9_Missense_Mutation_p.R657G NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 655 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) TGAAGCAGATAGACCATACAA 0.348000 18 23 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100896129 100896129 + Splice_Site SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:100896129C>G ENST00000369208.3 - 8 1526 c.e8-1 SIM1_ENST00000262901.4_Splice_Site P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CTCCGCCACCCTGAGGAGAGC 0.637000 4 25 0 0 1 0 0 APOC1 341 broad.mit.edu 37 19 45418151 45418151 + Translation_Start_Site SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:45418151G>A ENST00000588750.1 + 3 328 c.3G>A c.(1-3)atG>atA p.M1I APOC1_ENST00000586638.1_Start_Codon_SNP_p.M1I|APOC1_ENST00000252491.4_Start_Codon_SNP_p.M1I|APOC1_ENST00000592885.1_Start_Codon_SNP_p.M1I|APOC1_ENST00000588802.1_Start_Codon_SNP_p.M1I|APOC1_ENST00000589781.1_Start_Codon_SNP_p.M1I P02654 APOC1_HUMAN apolipoprotein C-I 1 cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity cervix(1)|large_intestine(1)|lung(2) 4 Lung NSC(12;0.0018)|all_lung(12;0.00481) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174) GCCTCGCCATGAGGCTCTTCC 0.607000 10 29 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11168977 11168977 + Nonsense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:11168977C>T ENST00000358026.2 + 32 4851 c.4567C>T c.(4567-4569)Cga>Tga p.R1523* SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.R1491*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.R1460*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.R1491*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.R1460*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.R1461*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.R1458*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.R1461*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.R1457* NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1491 Bromo. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.R1491*(2)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCTGCCCTCGCGAAAGGAGCT 0.637000 """F, N, Mis""" NSCLC 13 28 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61835134 61835134 + Silent SNP T T A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:61835134T>A ENST00000280772.2 - 37 5696 c.5505A>T c.(5503-5505)gcA>gcT p.A1835A ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GTTTCTTTAATGCTGGTTCTG 0.413000 53 150 0 0 1 0 0 UBQLN2 29978 broad.mit.edu 37 X 56591564 56591564 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chrX:56591564C>G ENST00000338222.5 + 1 1539 c.1258C>G c.(1258-1260)Cct>Gct p.P420A NM_013444.3 NP_038472.2 Q9UHD9 UBQL2_HUMAN ubiquilin 2 420 cytoplasm|nucleus|plasma membrane binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1) 21 TACTGCAAATCCTCAGCTGCA 0.542000 12 5 0 0 1 0 0 SWT1 54823 broad.mit.edu 37 1 185130013 185130013 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:185130013C>G ENST00000367500.4 + 2 205 c.40C>G c.(40-42)Cag>Gag p.Q14E SWT1_ENST00000367501.3_Missense_Mutation_p.Q14E NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 14 breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 AGAGACATCTCAGAGGAAAGA 0.323000 15 51 0 0 1 0 0 ALOX12B 242 broad.mit.edu 37 17 7984221 7984221 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:7984221G>A ENST00000319144.4 - 4 768 c.508C>T c.(508-510)Cgc>Tgc p.R170C AC129492.6_ENST00000399413.3_3'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 170 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 TTGGGGTTGCGATGCCTCCGC 0.652000 Multiple Myeloma(8;0.094) 59 95 0 0 1 0 0 SMAD2 4087 broad.mit.edu 37 18 45372078 45372078 + Missense_Mutation SNP T T G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:45372078T>G ENST00000402690.2 - 9 1485 c.1091A>C c.(1090-1092)cAg>cCg p.Q364P SMAD2_ENST00000262160.6_Missense_Mutation_p.Q364P|SMAD2_ENST00000586040.1_Missense_Mutation_p.Q334P|SMAD2_ENST00000356825.4_Missense_Mutation_p.Q334P|SMAD2_ENST00000591214.1_Missense_Mutation_p.Q334P NM_001003652.3 NP_001003652.1 Q15796 SMAD2_HUMAN SMAD family member 2 364 MH2. anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1) 43 GCCATATCTCTGATTACAATT 0.418000 42 52 0 0 1 0 0 VPS54 51542 broad.mit.edu 37 2 64141357 64141357 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:64141357C>G ENST00000409558.4 - 17 2411 c.2257G>C c.(2257-2259)Gtt>Ctt p.V753L VPS54_ENST00000354504.3_Missense_Mutation_p.V612L|VPS54_ENST00000272322.4_Missense_Mutation_p.V765L NM_001005739.1|NM_016516.2 NP_001005739.1|NP_057600.2 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 TCAGTAGTAACAGATGGGATG 0.348000 31 48 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223116319 223116319 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:223116319C>T ENST00000284476.6 + 2 318 c.154C>T c.(154-156)Cca>Tca p.P52S DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Missense_Mutation_p.P52S NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 52 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) AAAAGTGAGTCCAAATGGATG 0.512000 22 78 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123176495 123176495 + Splice_Site SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chrX:123176495G>A ENST00000371160.1 + 7 752 c.462G>A c.(460-462)gaG>gaA p.E154E STAG2_ENST00000371145.3_Splice_Site_p.E154E|STAG2_ENST00000218089.9_Splice_Site_p.E154E|STAG2_ENST00000371144.3_Splice_Site_p.E154E|STAG2_ENST00000371157.3_Splice_Site_p.E154E|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Splice_Site_p.E85E NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 154 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 AATTCGATGAGGTAACTTACT 0.333000 15 5 0 0 1 0 0 MLH1 4292 broad.mit.edu 37 3 37056007 37056007 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:37056007G>C ENST00000231790.2 + 9 978 c.762G>C c.(760-762)aaG>aaC p.K254N MLH1_ENST00000536378.1_Missense_Mutation_p.K13N|MLH1_ENST00000539477.1_Missense_Mutation_p.K13N|MLH1_ENST00000435176.1_Missense_Mutation_p.K156N|MLH1_ENST00000455445.2_Missense_Mutation_p.K13N|MLH1_ENST00000458205.2_Missense_Mutation_p.K13N NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 254 Missing (in HNPCC2). mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 ACTCAGTGAAGAAGTGCATCT 0.383000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 17 21 0 0 1 0 0 DNHD1 144132 broad.mit.edu 37 11 6592276 6592276 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:6592276G>A ENST00000254579.6 + 42 14098 c.13534G>A c.(13534-13536)Ggc>Agc p.G4512S DNHD1_ENST00000527990.2_Missense_Mutation_p.G4512S NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4512 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GCAGCTGAAGGGCGCACCCCC 0.682000 14 33 0 0 1 0 0 TMEM55B 90809 broad.mit.edu 37 14 20929450 20929450 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:20929450G>A ENST00000250489.4 - 1 321 c.35C>T c.(34-36)tCt>tTt p.S12F TMEM55B_ENST00000398020.4_Missense_Mutation_p.S12F Q86T03 TM55B_HUMAN transmembrane protein 55B 12 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1) 11 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) GATGGGCTCAGACAGCAGCGG 0.751000 3 4 0 0 1 0 0 CPNE6 9362 broad.mit.edu 37 14 24543758 24543758 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:24543758G>C ENST00000397016.2 + 7 828 c.517G>C c.(517-519)Gac>Cac p.D173H CPNE6_ENST00000537691.1_Missense_Mutation_p.D228H|CPNE6_ENST00000216775.2_Missense_Mutation_p.D173H NM_001280558.1 NP_001267487.1 O95741 CPNE6_HUMAN copine VI (neuronal) 173 C2 2. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) CAGCAAGTCTGACCCTTTCAT 0.547000 23 64 0 0 1 0 0 RPUSD2 27079 broad.mit.edu 37 15 40864067 40864067 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr15:40864067G>A ENST00000315616.7 + 2 909 c.871G>A c.(871-873)Gag>Aag p.E291K RPUSD2_ENST00000559271.1_Missense_Mutation_p.E230K NM_152260.1 NP_689473.1 Q8IZ73 RUSD2_HUMAN RNA pseudouridylate synthase domain containing 2 291 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding kidney(4)|lung(4)|skin(3) 11 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) TGCAGTCTCTGAGAGAATTCA 0.552000 31 81 0 0 1 0 0 MRPS5 64969 broad.mit.edu 37 2 95766234 95766234 + Nonsense_Mutation SNP T T A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:95766234T>A ENST00000272418.2 - 10 1124 c.916A>T c.(916-918)Aag>Tag p.K306* NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 306 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 GGTTGTTTCTTCATCTTGATA 0.323000 17 39 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24522785 24522785 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:24522785C>G ENST00000355123.4 - 12 1780 c.1337G>C c.(1336-1338)aGa>aCa p.R446T ITSN2_ENST00000361999.3_Missense_Mutation_p.R446T|ITSN2_ENST00000406921.3_Missense_Mutation_p.R446T NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 446 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AACCTCTCGTCTTTCTATGTC 0.289000 14 60 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123886665 123886665 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:123886665G>A ENST00000320891.4 + 1 384 c.384G>A c.(382-384)ccG>ccA p.P128P NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TCAGTTACCCGCTCAGGTACA 0.557000 50 125 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33096819 33096819 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:33096819C>G ENST00000306065.4 - 24 2573 c.2415G>C c.(2413-2415)aaG>aaC p.K805N NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 805 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) TGAGGTCCTTCTTATTGGGTT 0.512000 41 40 0 0 1 0 0 RDH10 157506 broad.mit.edu 37 8 74235043 74235043 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:74235043G>C ENST00000240285.5 + 5 1578 c.900G>C c.(898-900)aaG>aaC p.K300N RDH10_ENST00000519380.1_Missense_Mutation_p.K135N|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA NM_172037.4 NP_742034.1 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 (all-trans) 300 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 11 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) CCTTCATGAAGAGGTAACTGG 0.512000 31 51 0 0 1 0 0 GSTP1 2950 broad.mit.edu 37 11 67353985 67353985 + Silent SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:67353985C>G ENST00000398606.3 + 7 819 c.570C>G c.(568-570)ctC>ctG p.L190L GSTP1_ENST00000398603.1_Silent_p.L154L|GSTP1_ENST00000498765.1_3'UTR NM_000852.3 NP_000843.1 P09211 GSTP1_HUMAN glutathione S-transferase pi 1 190 GST C-terminal. anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process cytosol|protein complex dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding p.L190L(1) central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1) 9 Ethacrynic acid(DB00903)|Glutathione(DB00143) GGCCCAAGCTCAAGGCCTTCC 0.627000 17 28 0 0 1 0 0 GPI 2821 broad.mit.edu 37 19 34868692 34868692 + Missense_Mutation SNP G G A rs148548669 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:34868692G>A ENST00000415930.3 + 6 742 c.572G>A c.(571-573)cGc>cAc p.R191H GPI_ENST00000586425.1_Missense_Mutation_p.R180H|GPI_ENST00000356487.5_Missense_Mutation_p.R180H NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 180 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) GGAGGTCCCCGCGTCTGGTAT 0.532000 34 53 0 0 1 0 0 OR52A4P 390053 broad.mit.edu 37 11 5142584 5142584 + RNA SNP A A T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:5142584A>T ENST00000498233.1 - 0 814 breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) TGCTAAGTGAAATGTCTGTGG 0.428000 18 53 0 0 1 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1712505 1712505 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:1712505C>G ENST00000397412.3 + 12 2527 c.2428C>G c.(2428-2430)Cca>Gca p.P810A CRAMP1L_ENST00000262317.4_Missense_Mutation_p.P188A|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.P807A|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.P810A Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 810 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 GAGAAACCCTCCAAGACCCCT 0.547000 52 98 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70934909 70934909 + Nonsense_Mutation SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:70934909C>A ENST00000393567.2 - 53 9196 c.9046G>T c.(9046-9048)Gag>Tag p.E3016* NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3016 p.E2967*(1)|p.E3015*(1)|p.E573*(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGCCTCACCTCCAACCGAATA 0.532000 24 181 1.414e-09 1.46839e-09 1 1 0 PARPBP 55010 broad.mit.edu 37 12 102576369 102576369 + Missense_Mutation SNP A A T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:102576369A>T ENST00000327680.2 + 10 1447 c.984A>T c.(982-984)gaA>gaT p.E328D PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.E486D|PARPBP_ENST00000358383.5_Missense_Mutation_p.E409D|PARPBP_ENST00000392911.2_Missense_Mutation_p.E328D NM_017915.3 NP_060385.3 Q9NWS1 PR1BP_HUMAN PARP1 binding protein 409 response to DNA damage stimulus cytoplasm|nucleus DNA binding endometrium(1)|lung(8)|urinary_tract(2) 11 CCCTAAGAGAACGCATCTGTG 0.318000 12 16 0 0 1 0 0 EFNA5 1946 broad.mit.edu 37 5 106722987 106722987 + Missense_Mutation SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr5:106722987C>A ENST00000333274.6 - 4 795 c.514G>T c.(514-516)Gat>Tat p.D172Y EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Intron NM_001962.2 NP_001953.1 P52803 EFNA5_HUMAN ephrin-A5 172 cell-cell signaling anchored to plasma membrane|caveola|extracellular space ephrin receptor binding large_intestine(6) 6 all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241) Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109) AAAACACGATCATGAACACCT 0.328000 8 7 0.00010058 0.000101953 1 1 0 TSC1 7248 broad.mit.edu 37 9 135781236 135781236 + Nonsense_Mutation SNP C C A rs118203570 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr9:135781236C>A ENST00000298552.3 - 15 1950 c.1729G>T c.(1729-1731)Gag>Tag p.E577* TSC1_ENST00000545250.1_Nonsense_Mutation_p.E526*|TSC1_ENST00000440111.2_Nonsense_Mutation_p.E577* NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 577 E -> D. activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) ATACTGGTCTCCAAAGAAGTC 0.547000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 22 21 4.26978e-12 4.44956e-12 1 1 0 NOS3 4846 broad.mit.edu 37 7 150699002 150699002 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:150699002G>C ENST00000297494.3 + 13 1953 c.1596G>C c.(1594-1596)caG>caC p.Q532H NOS3_ENST00000467517.1_Missense_Mutation_p.Q532H|NOS3_ENST00000484524.1_Missense_Mutation_p.Q532H|NOS3_ENST00000461406.1_Missense_Mutation_p.Q326H NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 532 Flavodoxin-like. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GCCGGGCCCAGAGCTACGCAC 0.647000 19 39 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35614640 35614640 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:35614640C>T ENST00000353139.5 - 14 2292 c.1811G>A c.(1810-1812)aGa>aAa p.R604K ACACA_ENST00000360679.3_Missense_Mutation_p.R509K|ACACA_ENST00000335166.5_Missense_Mutation_p.R489K|ACACA_ENST00000394406.2_Missense_Mutation_p.R567K NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 567 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TGCCTCTTCTCTGTTTTCTCC 0.378000 17 44 0 0 1 0 0 ACTC1 70 broad.mit.edu 37 15 35083368 35083368 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr15:35083368C>G ENST00000290378.4 - 6 1592 c.937G>C c.(937-939)Gat>Cat p.D313H ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 313 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TGCATACGATCAGCAATACCA 0.443000 77 152 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34079687 34079687 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:34079687C>T ENST00000254466.6 - 1 210 c.183G>A c.(181-183)acG>acA p.T61T GAS2L2_ENST00000587565.1_Silent_p.T61T NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 61 CH. cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCACCAGGCCCGTTTCCAGCA 0.627000 25 51 0 0 1 0 0 ACTR3C 653857 broad.mit.edu 37 7 149983476 149983476 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:149983476C>G ENST00000539352.1 - 5 702 c.451G>C c.(451-453)Gaa>Caa p.E151Q ACTR3C_ENST00000252071.4_Missense_Mutation_p.E151Q NM_001164458.1 NP_001157930.1 Q9C0K3 ARP3C_HUMAN ARP3 actin-related protein 3 homolog C (yeast) 151 regulation of actin filament polymerization cytoskeleton actin binding|ATP binding AAGAATATTTCAGGTCCCAGG 0.458000 4 197 0 0 1 0 0 GSR 2936 broad.mit.edu 37 8 30557646 30557646 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:30557646C>T ENST00000221130.5 - 6 737 c.647G>A c.(646-648)aGc>aAc p.S216N GSR_ENST00000546342.1_Missense_Mutation_p.S216N|GSR_ENST00000541648.1_Missense_Mutation_p.S216N|GSR_ENST00000537535.1_Missense_Mutation_p.S216N|GSR_ENST00000414019.1_Missense_Mutation_p.S173N NM_000637.3|NM_001195102.1|NM_001195103.1 NP_000628.2|NP_001182031.1|NP_001182032.1 P00390 GSHR_HUMAN glutathione reductase 216 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 23 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) TATTCCTAAGCTGGCACCTAT 0.428000 24 25 0 0 1 0 0 C1orf35 79169 broad.mit.edu 37 1 228288840 228288840 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:228288840C>T ENST00000272139.4 - 8 1018 c.784G>A c.(784-786)Gag>Aag p.E262K C1orf35_ENST00000472617.1_5'UTR NM_024319.2 NP_077295.1 Q9BU76 MMTA2_HUMAN chromosome 1 open reading frame 35 262 E -> K (in Ref. 1; AAN15215). large_intestine(1)|lung(1)|skin(1) 3 Prostate(94;0.0488) CATCAGGCCTCAGAGCCTCTG 0.627000 44 108 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27746223 27746223 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:27746223G>C ENST00000264717.2 + 19 1858 c.1795G>C c.(1795-1797)Gag>Cag p.E599Q GCKR_ENST00000424318.2_Missense_Mutation_p.E409Q NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 599 carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) TTCTGTCTGTGAGGCTGTCAG 0.597000 10 37 0 0 1 0 0 AP1M2 10053 broad.mit.edu 37 19 10689595 10689595 + Silent SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:10689595G>C ENST00000590923.1 - 8 950 c.867C>G c.(865-867)tcC>tcG p.S289S AP1M2_ENST00000250244.6_Silent_p.S287S Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit 287 MHD. cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 9 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) CGCGGCTGTGGGAGAACTTCT 0.512000 3 18 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24522905 24522905 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:24522905C>T ENST00000355123.4 - 12 1660 c.1217G>A c.(1216-1218)cGa>cAa p.R406Q ITSN2_ENST00000361999.3_Missense_Mutation_p.R406Q|ITSN2_ENST00000406921.3_Missense_Mutation_p.R406Q NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 406 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTCTGTTTTCGTTCCCACTC 0.453000 30 114 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 46 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173930937 173930937 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:173930937C>G ENST00000367696.2 - 12 2479 c.2128G>C c.(2128-2130)Gaa>Caa p.E710Q RC3H1_ENST00000258349.4_Missense_Mutation_p.E710Q|RC3H1_ENST00000367694.2_Missense_Mutation_p.E710Q Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 710 Pro-rich. cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 TGGTATCTTTCTCTGGATTCT 0.438000 59 196 0 0 1 0 0 CLEC10A 10462 broad.mit.edu 37 17 6979314 6979314 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:6979314G>A ENST00000576617.1 - 6 698 c.429C>T c.(427-429)ctC>ctT p.L143L CLEC10A_ENST00000571664.1_Silent_p.L143L|CLEC10A_ENST00000416562.2_Silent_p.L143L|CLEC10A_ENST00000254868.4_Silent_p.L170L Q8IUN9 CLC10_HUMAN C-type lectin domain family 10, member A 170 endocytosis|innate immune response integral to membrane|plasma membrane sugar binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 CATTGTTGTTGAGAGTAGCCA 0.547000 27 51 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116741052 116741052 + Silent SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:116741052C>A ENST00000375300.1 - 14 1808 c.1803G>T c.(1801-1803)gtG>gtT p.V601V SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000292055.4_Silent_p.V543V|SIK3_ENST00000434315.2_Silent_p.V442V|SIK3_ENST00000446921.2_Silent_p.V553V|SIK3_ENST00000542607.1_Silent_p.V495V Q9Y2K2 SIK3_HUMAN SIK family kinase 3 543 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 ATTACCTCTGCACAGCTTCCT 0.597000 OREG0003489 type=REGULATORY REGION|Gene=BC063887|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 13 27 4.14922e-12 4.33915e-12 1 1 0 SF3B2 10992 broad.mit.edu 37 11 65831159 65831159 + Silent SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:65831159C>G ENST00000528302.1 + 18 2292 c.2238C>G c.(2236-2238)ctC>ctG p.L746L SF3B2_ENST00000322535.6_Silent_p.L763L Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 763 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 CCCCTGAACTCATTGAGCTGA 0.537000 13 27 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 16 0.004672 0.00470367 1 1 0 EVC 2121 broad.mit.edu 37 4 5754566 5754566 + Missense_Mutation SNP G G A rs145645536 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr4:5754566G>A ENST00000382674.2 + 9 1286 c.1102G>A c.(1102-1104)Gcc>Acc p.A368T EVC_ENST00000264956.6_Missense_Mutation_p.A368T|EVC_ENST00000509451.1_Missense_Mutation_p.A368T P57679 EVC_HUMAN Ellis van Creveld syndrome 368 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) TTTGCAGGACGCCCTGGAGAG 0.557000 39 64 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 6 17 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154625251 154625251 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr4:154625251C>G ENST00000260010.6 + 1 2600 c.1192C>G c.(1192-1194)Cat>Gat p.H398D NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 398 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) AAGGCAAAATCATTTGGCATC 0.363000 19 47 0 0 1 0 0 GSTP1 2950 broad.mit.edu 37 11 67353995 67353995 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:67353995C>T ENST00000398606.3 + 7 829 c.580C>T c.(580-582)Ctg>Ttg p.L194L GSTP1_ENST00000398603.1_Silent_p.L158L|GSTP1_ENST00000498765.1_3'UTR NM_000852.3 NP_000843.1 P09211 GSTP1_HUMAN glutathione S-transferase pi 1 194 GST C-terminal. anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process cytosol|protein complex dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1) 9 Ethacrynic acid(DB00903)|Glutathione(DB00143) CAAGGCCTTCCTGGCCTCCCC 0.622000 16 23 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6639125 6639125 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:6639125C>G ENST00000333172.6 + 6 2200 c.2007C>G c.(2005-2007)ttC>ttG p.F669L TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Missense_Mutation_p.F415L NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 669 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) TACCTACATTCTACCACGCCT 0.522000 37 83 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5040888 5040888 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:5040888G>A ENST00000251170.7 + 5 646 c.466G>A c.(466-468)Gtc>Atc p.V156I NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 156 PRELI/MSF1. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 CACCGCCAACGTCAAGAGGGT 0.537000 4 7 0 0 1 0 0 DENND6A 201627 broad.mit.edu 37 3 57619051 57619051 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:57619051G>C ENST00000311128.5 - 15 1364 c.1294C>G c.(1294-1296)Caa>Gaa p.Q432E RP11-755B10.2_ENST00000470427.1_RNA NM_152678.2 NP_689891.1 DENN/MADD domain containing 6A ATAACACTTTGAGCCTCAGAA 0.303000 14 33 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113529420 113529420 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:113529420G>A ENST00000297405.5 - 28 4843 c.4599C>T c.(4597-4599)gtC>gtT p.V1533V CSMD3_ENST00000455883.2_Silent_p.V1429V|CSMD3_ENST00000352409.3_Silent_p.V1533V|CSMD3_ENST00000343508.3_Silent_p.V1493V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1533 Sushi 8. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CATTCATGGGGACCCCTGGGT 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 30 0 0 1 0 0 TMEM31 203562 broad.mit.edu 37 X 102968912 102968912 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chrX:102968912C>G ENST00000319560.6 + 3 684 c.493C>G c.(493-495)Ctg>Gtg p.L165V GLRA4_ENST00000372617.4_Intron NM_182541.2 NP_872347.2 Q5JXX7 TMM31_HUMAN transmembrane protein 31 165 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3) 7 tgtcttcattctgatcttctt 0.378000 7 2 0 0 1 0 0 ADAM32 203102 broad.mit.edu 37 8 39044508 39044508 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:39044508C>T ENST00000379907.4 + 11 1123 c.996C>T c.(994-996)gaC>gaT p.D332D ADAM32_ENST00000437682.2_Intron|ADAM32_ENST00000519315.1_Intron NM_145004.5 NP_659441 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 332 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.D331D(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) TATCATATGACGACCCAAAGA 0.348000 103 32 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142144273 142144273 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:142144273C>T ENST00000264951.4 - 4 631 c.514G>A c.(514-516)Gag>Aag p.E172K XRN1_ENST00000544157.1_Intron|XRN1_ENST00000463916.1_Missense_Mutation_p.E172K|XRN1_ENST00000392981.2_Missense_Mutation_p.E172K NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 172 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 ATAATAACCTCATGGCCTGAG 0.279000 17 6 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 376347 376347 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:376347G>A ENST00000329962.6 + 13 1293 c.1293G>A c.(1291-1293)ccG>ccA p.P431P NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 431 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCCTCAACCCGGACGGTGAGT 0.617000 12 46 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24522915 24522915 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:24522915C>T ENST00000355123.4 - 12 1650 c.1207G>A c.(1207-1209)Gag>Aag p.E403K ITSN2_ENST00000361999.3_Missense_Mutation_p.E403K|ITSN2_ENST00000406921.3_Missense_Mutation_p.E403K NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 403 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGTTCCCACTCTTCCTTTTCT 0.453000 32 118 0 0 1 0 0 ZNF226 7769 broad.mit.edu 37 19 44680638 44680638 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:44680638C>G ENST00000590089.1 + 7 1590 c.1223C>G c.(1222-1224)tCc>tGc p.S408C ZNF226_ENST00000454662.2_Missense_Mutation_p.S408C|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.S408C Q9NYT6 ZN226_HUMAN zinc finger protein 226 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) CATCTTCAATCCCATCAAAGA 0.443000 24 33 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134072260 134072260 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr4:134072260C>G ENST00000264360.5 + 1 1791 c.965C>G c.(964-966)cCa>cGa p.P322R NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GAAGAGAGCCCAGTGTACCAA 0.612000 41 78 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36121033 36121033 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:36121033G>A ENST00000258840.6 - 31 4667 c.4277C>T c.(4276-4278)tCa>tTa p.S1426L RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S1392L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S1379L|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S1379L NM_001283044.1 NP_001269973.1 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1379 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TTCATAAGATGAAGCCTCTGT 0.274000 25 64 0 0 1 0 0 IRS2 8660 broad.mit.edu 37 13 110435362 110435362 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr13:110435362C>T ENST00000375856.3 - 1 3553 c.3039G>A c.(3037-3039)ccG>ccA p.P1013P NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1013 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) acggcggATACGGGGAGGAGG 0.766000 3 2 0 0 1 0 0 LARS 51520 broad.mit.edu 37 5 145557190 145557190 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr5:145557190C>G ENST00000394434.2 - 2 211 c.45G>C c.(43-45)aaG>aaC p.K15N LARS_ENST00000510191.1_Intron|LARS_ENST00000545646.1_Missense_Mutation_p.K15N|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000274562.9_Missense_Mutation_p.K15N NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 15 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding p.K15K(1) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CTTTCTCAATCTTCTTCAAAA 0.363000 20 16 0 0 1 0 0 ASL 435 broad.mit.edu 37 7 65548157 65548157 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:65548157G>C ENST00000304874.9 + 6 544 c.442G>C c.(442-444)Gag>Cag p.E148Q ASL_ENST00000395332.3_Missense_Mutation_p.E148Q|ASL_ENST00000395331.3_Missense_Mutation_p.E148Q|ASL_ENST00000380839.4_Missense_Mutation_p.E148Q NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 148 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) GGATCGGGCAGAGGCGTGAGT 0.637000 16 22 0 0 1 0 0 REN 5972 broad.mit.edu 37 1 204125342 204125342 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:204125342G>A ENST00000367195.2 - 7 958 c.915C>T c.(913-915)ctC>ctT p.L305L REN_ENST00000272190.8_Silent_p.L308L P00797 RENI_HUMAN renin 308 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) AGGCCTCCATGAGCTTCTCTA 0.562000 100 357 0 0 1 0 0 DDX1 1653 broad.mit.edu 37 2 15753407 15753407 + Splice_Site SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:15753407G>C ENST00000381341.2 + 15 1405 c.1016G>C c.(1015-1017)gGa>gCa p.G339A DDX1_ENST00000233084.3_Splice_Site_p.G339A Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 339 Helicase ATP-binding.|Necessary for interaction with RELA. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) TTGGAAAATGGAGTAAGTTGT 0.323000 8 28 0 0 1 0 0 PTGDR2 11251 broad.mit.edu 37 11 60620311 60620311 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:60620311G>A ENST00000332539.4 - 2 996 c.885C>T c.(883-885)ttC>ttT p.F295F NM_004778.2 NP_004769.2 Q9Y5Y4 GPR44_HUMAN prostaglandin D2 receptor 2 295 immune response integral to plasma membrane N-formyl peptide receptor activity CCACGCTGTTGAAGAAGGCCA 0.706000 3 7 0 0 1 0 0 OSTCP1 202459 broad.mit.edu 37 6 159262845 159262845 + RNA SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:159262845G>A ENST00000522287.1 - 0 498 NR_028496.1 ATGAATAGAAGAAGAAATCTA 0.408000 35 89 0 0 1 0 0 SPANXC 64663 broad.mit.edu 37 X 140336533 140336533 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chrX:140336533C>T ENST00000358993.2 - 1 96 c.58G>A c.(58-60)Gag>Aag p.E20K NM_022661.2 NP_073152.1 Q9NY87 SPNXC_HUMAN SPANX family, member C 20 cytoplasm|nucleus large_intestine(2)|lung(3)|pancreas(1) 6 Acute lymphoblastic leukemia(192;7.65e-05) TCATTCACCTCGTTGGATTCA 0.493000 52 30 0 0 1 0 0 FKBP8 23770 broad.mit.edu 37 19 18650529 18650529 + Splice_Site SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:18650529C>T ENST00000608443.1 - 3 493 c.294G>A c.(292-294)ggG>ggA p.G98G FKBP8_ENST00000597960.3_Splice_Site_p.G98G|FKBP8_ENST00000222308.4_Splice_Site_p.G98G|FKBP8_ENST00000596558.2_Splice_Site_p.G98G|FKBP8_ENST00000453489.2_Splice_Site_p.G127G|FKBP8_ENST00000610101.1_Intron Q14318 FKBP8_HUMAN FK506 binding protein 8, 38kDa apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 ACAGCCCGTTCCCTGCCAGGG 0.662000 66 84 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92471361 92471361 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:92471361G>C ENST00000267622.4 - 11 3332 c.2959C>G c.(2959-2961)Caa>Gaa p.Q987E NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 987 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTATCTGTTTGAATGTCCTGT 0.333000 T PDGFRB AML 15 36 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73185578 73185578 + Missense_Mutation SNP T T C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr4:73185578T>C ENST00000286657.4 - 8 1241 c.1205A>G c.(1204-1206)cAt>cGt p.H402R NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 402 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GACTTACACATGGCCCGTTTC 0.448000 18 26 0 0 1 0 0 METTL13 51603 broad.mit.edu 37 1 171753057 171753057 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:171753057C>T ENST00000361735.3 + 2 597 c.331C>T c.(331-333)Cct>Tct p.P111S METTL13_ENST00000458517.1_Missense_Mutation_p.P110S|METTL13_ENST00000367737.5_Missense_Mutation_p.P111S|METTL13_ENST00000362019.3_Missense_Mutation_p.P25S NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 111 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 GATGGAGTTTCCTGATGCCTC 0.527000 21 75 0 0 1 0 0 FAM151B 167555 broad.mit.edu 37 5 79797732 79797732 + Silent SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr5:79797732G>C ENST00000282226.4 + 2 302 c.147G>C c.(145-147)ctG>ctC p.L49L FAM151B_ENST00000511718.1_3'UTR NM_205548.2 NP_991111.2 Q6UXP7 F151B_HUMAN family with sequence similarity 151, member B 49 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 7 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36) ATGAGGCACTGAAAAGTAAGT 0.368000 39 33 0 0 1 0 0 IPO8 10526 broad.mit.edu 37 12 30802107 30802107 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:30802107G>A ENST00000256079.4 - 20 2570 c.2232C>T c.(2230-2232)gtC>gtT p.V744V IPO8_ENST00000544829.1_Silent_p.V539V NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 744 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GAAGAATGATGACTTCCAGAA 0.428000 37 77 0 0 1 0 0 FMNL3 91010 broad.mit.edu 37 12 50050233 50050233 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:50050233C>T ENST00000335154.5 - 9 1072 c.839G>A c.(838-840)cGa>cAa p.R280Q FMNL3_ENST00000293590.5_Missense_Mutation_p.R280Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.R280Q|FMNL3_ENST00000352151.5_Missense_Mutation_p.R229Q NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 280 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 GTGACCTCCTCGCACCAAACA 0.512000 10 32 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46398102 46398102 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:46398102C>T ENST00000454345.1 + 25 2879 c.2754C>T c.(2752-2754)atC>atT p.I918I DGKZ_ENST00000343674.6_Silent_p.I746I|DGKZ_ENST00000395574.3_Silent_p.I696I|DGKZ_ENST00000456247.2_Silent_p.I729I|DGKZ_ENST00000527911.1_Silent_p.I730I|DGKZ_ENST00000528615.1_Silent_p.I508I|DGKZ_ENST00000543978.1_Silent_p.I82I|DGKZ_ENST00000318201.8_Silent_p.I707I|DGKZ_ENST00000532868.2_Silent_p.I734I|DGKZ_ENST00000421244.2_Silent_p.I730I NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 918 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding p.I746I(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) TCTACAGGATCGACCGAGCCC 0.672000 42 89 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100751235 100751235 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:100751235G>C ENST00000323346.5 + 1 379 c.66G>C c.(64-66)aaG>aaC p.K22N SLC17A8_ENST00000392989.3_Missense_Mutation_p.K22N NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 22 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 AAGGAGTGAAGAACGCCGTGG 0.413000 36 88 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31540716 31540716 + Missense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:31540716G>T ENST00000389082.5 - 21 3910 c.3646C>A c.(3646-3648)Cgc>Agc p.R1216S DENND5B_ENST00000536562.1_Missense_Mutation_p.R1251S|DENND5B_ENST00000306833.6_Missense_Mutation_p.R1251S NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1216 RUN 2. integral to membrane p.R1216C(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GGGAGCAGGCGATCCCTACAG 0.527000 15 31 2.31682e-05 2.35649e-05 1 1 0 LHX8 431707 broad.mit.edu 37 1 75609605 75609605 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:75609605G>A ENST00000294638.5 + 7 1350 c.686G>A c.(685-687)cGg>cAg p.R229Q LHX8_ENST00000356261.3_Missense_Mutation_p.R219Q NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 229 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 AAAAGAGCTCGGACCAGCTTT 0.403000 14 37 0 0 1 0 0 SUGP2 10147 broad.mit.edu 37 19 19136463 19136463 + Nonsense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:19136463G>A ENST00000601879.1 - 3 991 c.694C>T c.(694-696)Cag>Tag p.Q232* SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000600377.1_Nonsense_Mutation_p.Q246*|SUGP2_ENST00000337018.6_Nonsense_Mutation_p.Q232*|SUGP2_ENST00000452918.2_Nonsense_Mutation_p.Q232*|SUGP2_ENST00000456085.2_Intron Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 232 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 AGCAGGCCCTGAGTCTCCCCC 0.522000 36 37 0 0 1 0 0 PPM1M 132160 broad.mit.edu 37 3 52282393 52282393 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:52282393C>G ENST00000296487.4 + 6 759 c.355C>G c.(355-357)Ctg>Gtg p.L119V PPM1M_ENST00000457351.2_Missense_Mutation_p.L280V|PPM1M_ENST00000409502.3_Missense_Mutation_p.L68V|PPM1M_ENST00000323588.4_Missense_Mutation_p.L119V Q96MI6 PPM1M_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1M 119 PP2C-like. protein dephosphorylation nucleus CTD phosphatase activity|manganese ion binding prostate(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194) GTTCACCCGACTGGAGTTCCC 0.592000 9 23 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89392633 89392633 + RNA SNP T T A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:89392633T>A ENST00000532352.1 + 0 528 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTAAGTGTAATATTGAAAATT 0.343000 7 5 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45478126 45478126 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:45478126C>G ENST00000361462.2 + 6 3098 c.2915C>G c.(2914-2916)tCt>tGt p.S972C FAM179B_ENST00000361577.3_Missense_Mutation_p.S972C|FAM179B_ENST00000382233.2_Intron|KLHL28_ENST00000553817.1_Intron Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 972 Ser-rich. binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 ATGCATAGCTCTCTTAGGTCC 0.338000 21 47 0 0 1 0 0 BCL2L10 10017 broad.mit.edu 37 15 52402123 52402123 + Nonsense_Mutation SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr15:52402123C>A ENST00000561198.1 - 2 648 c.607G>T c.(607-609)Gag>Tag p.E203* BCL2L10_ENST00000260442.3_Missense_Mutation_p.W179C Q9HD36 B2L10_HUMAN BCL2-like 10 (apoptosis facilitator) 0 activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 all cancers(107;0.0148) GCTGTTTTCTCCAAAAAGCCA 0.438000 65 110 1.63498e-16 1.73425e-16 1 1 0 BRD1 23774 broad.mit.edu 37 22 50216812 50216812 + Translation_Start_Site SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr22:50216812C>T ENST00000342989.5 - 0 41 BRD1_ENST00000542442.1_Missense_Mutation_p.C24Y|BRD1_ENST00000457780.2_Missense_Mutation_p.C385Y|BRD1_ENST00000216267.8_Missense_Mutation_p.C385Y|BRD1_ENST00000404760.1_Missense_Mutation_p.C385Y|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000404034.1_Missense_Mutation_p.C385Y O95696 BRD1_HUMAN bromodomain containing 1 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GTGGACATCACAGTAAGCGGT 0.542000 66 112 0 0 1 0 0 TRAPPC8 22878 broad.mit.edu 37 18 29437531 29437531 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:29437531C>T ENST00000283351.4 - 20 3495 c.3160G>A c.(3160-3162)Gaa>Aaa p.E1054K TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E1000K NM_014939.3 NP_055754 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 1054 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTGACACTTTCATAGTAAAAC 0.348000 18 37 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561856 11561856 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:11561856G>A ENST00000294484.6 + 2 945 c.807G>A c.(805-807)acG>acA p.T269T PTCHD2_ENST00000389575.3_Silent_p.T269T NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 269 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) ACACTCAGACGCACGCGCACT 0.677000 12 20 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11607583 11607583 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:11607583G>C ENST00000262442.4 + 25 5283 c.5215G>C c.(5215-5217)Gag>Cag p.E1739Q DNAH9_ENST00000454412.2_Missense_Mutation_p.E1739Q NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGCCAGGCTGGAGGAAGGCTA 0.512000 39 86 0 0 1 0 0 ENOX2 10495 broad.mit.edu 37 X 129771262 129771262 + Missense_Mutation SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chrX:129771262C>A ENST00000338144.3 - 12 1756 c.1339G>T c.(1339-1341)Gac>Tac p.D447Y ENOX2_ENST00000394363.1_Missense_Mutation_p.D418Y|ENOX2_ENST00000370935.1_Missense_Mutation_p.D418Y|ENOX2_ENST00000370927.1_Missense_Mutation_p.D447Y NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 447 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 TTGTTAGGGTCATCTTCTCTG 0.473000 84 41 5.00475e-40 5.42486e-40 1 1 0 HRH3 11255 broad.mit.edu 37 20 60794805 60794805 + Silent SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr20:60794805G>C ENST00000340177.5 - 1 506 c.222C>G c.(220-222)ctC>ctG p.L74L HRH3_ENST00000317393.6_Silent_p.L74L NM_007232.2 NP_009163.2 Q9Y5N1 HRH3_HUMAN histamine receptor H3 74 G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) TGGCGAGGTTGAGCAGGAAGA 0.682000 18 46 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56492874 56492874 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:56492874C>T ENST00000370754.5 - 32 4461 c.4462G>A c.(4462-4464)Gaa>Aaa p.E1488K DST_ENST00000244364.6_Missense_Mutation_p.E984K|DST_ENST00000518935.1_Missense_Mutation_p.E984K|DST_ENST00000446842.2_Missense_Mutation_p.E984K|DST_ENST00000361203.3_Missense_Mutation_p.E1310K|DST_ENST00000421834.2_Missense_Mutation_p.E1310K|DST_ENST00000370769.4_Missense_Mutation_p.E1310K|DST_ENST00000312431.6_Missense_Mutation_p.E1310K|DST_ENST00000370765.6_Missense_Mutation_p.E984K|DST_ENST00000370788.2_Missense_Mutation_p.E1310K Q03001 DYST_HUMAN dystonin 1310 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGAGTAGTTTCAACCTGCTGG 0.388000 21 48 0 0 1 0 0 TCF12 6938 broad.mit.edu 37 15 57545488 57545488 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr15:57545488G>C ENST00000267811.5 + 15 1521 c.1217G>C c.(1216-1218)aGa>aCa p.R406T TCF12_ENST00000343827.3_Missense_Mutation_p.R236T|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Missense_Mutation_p.R430T|TCF12_ENST00000452095.2_Missense_Mutation_p.R426T|TCF12_ENST00000557843.1_Missense_Mutation_p.R406T|TCF12_ENST00000543579.1_Missense_Mutation_p.R260T|TCF12_ENST00000537840.1_Missense_Mutation_p.R170T|TCF12_ENST00000438423.2_Missense_Mutation_p.R430T|TCF12_ENST00000559703.1_Missense_Mutation_p.R64T|TCF12_ENST00000559710.1_Missense_Mutation_p.R40T NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 406 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) CGTTTAGACAGACTGGATGAT 0.443000 T TEC extraskeletal myxoid chondrosarcoma 23 66 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413526 105413526 + Missense_Mutation SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:105413526C>A ENST00000333244.5 - 7 8381 c.8262G>T c.(8260-8262)aaG>aaT p.K2754N AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2754 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CGTTGGGGCCCTTAACATCTA 0.612000 100 172 4.31119e-35 4.65608e-35 1 1 0 NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:178098810C>G ENST00000397062.3 - 2 789 c.235G>C c.(235-237)Gag>Cag p.E79Q NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E79K(10)|p.E79Q(10) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCACCTGTCTCTTCATCTAGT 0.443000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 16 34 0 0 1 0 0 SMCO1 255798 broad.mit.edu 37 3 196236536 196236536 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:196236536C>G ENST00000397537.2 - 2 211 c.55G>C c.(55-57)Gac>Cac p.D19H NM_001077657.1 NP_001071125.1 single-pass membrane protein with coiled-coil domains 1 AGTTTGTGGTCTACTCTGTAG 0.373000 46 86 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr4:1803568C>G ENST00000340107.4 + 7 1002 c.746C>G c.(745-747)tCc>tGc p.S249C FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 249 S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1204)|p.R248_S249del(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.736000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 11 19 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5222225 5222225 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:5222225G>A ENST00000372412.4 - 19 3346 c.3113C>T c.(3112-3114)cCc>cTc p.P1038L PTPRS_ENST00000357368.4_Missense_Mutation_p.P1037L|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1033L|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1037L|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1015L|PTPRS_ENST00000592099.1_Missense_Mutation_p.P606L|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1015L|PTPRS_ENST00000353284.2_Missense_Mutation_p.P606L Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1037 Fibronectin type-III 8. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GAAGTTCTTGGGCGAGACTGC 0.607000 3 39 0 0 1 0 0 TEKT4P2 100132288 broad.mit.edu 37 21 9907373 9907373 + RNA SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr21:9907373C>G ENST00000416067.1 - 0 1419 NR_037872.1|NR_038327.1 TGTGGATGTCCTTGAGGTTGC 0.577000 4 42 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89858462 89858462 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:89858462C>T ENST00000389301.3 - 13 1128 c.1098G>A c.(1096-1098)ctG>ctA p.L366L FANCA_ENST00000568369.1_Silent_p.L366L NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 366 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) CCTCTGCACTCAGCATCACAA 0.527000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 21 73 0 0 1 0 0 SUN1 23353 broad.mit.edu 37 7 883137 883137 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:883137C>G ENST00000456758.2 + 8 812 c.812C>G c.(811-813)tCt>tGt p.S271C SUN1_ENST00000405266.1_Missense_Mutation_p.S213C|SUN1_ENST00000457378.2_Missense_Mutation_p.S234C|SUN1_ENST00000425407.2_Missense_Mutation_p.S163C|SUN1_ENST00000401592.1_Missense_Mutation_p.S213C|SUN1_ENST00000403868.1_Missense_Mutation_p.S213C|SUN1_ENST00000389574.3_Missense_Mutation_p.S163C|SUN1_ENST00000452783.2_Intron O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 213 EMD-binding.|SYNE2-binding. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGAGTTTATTCTAGGGACAGG 0.502000 79 186 0 0 1 0 0 STK32C 282974 broad.mit.edu 37 10 134059433 134059433 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:134059433G>A ENST00000368625.4 - 2 413 c.328C>T c.(328-330)Cgg>Tgg p.R110W STK32C_ENST00000368622.1_5'UTR Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 97 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1) 23 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) CCAATGGCCCGAAGGATCTGG 0.627000 22 58 0 0 1 0 0 GLB1L3 112937 broad.mit.edu 37 11 134181051 134181051 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:134181051C>G ENST00000431683.2 + 13 1274 c.1274C>G c.(1273-1275)tCc>tGc p.S425C NM_001080407.2 NP_001073876.2 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 425 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) GACGCCCTATCCTACTTAAAT 0.582000 114 196 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73491426 73491426 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:73491426C>T ENST00000314256.7 + 21 3184 c.2790C>T c.(2788-2790)atC>atT p.I930I KIAA0195_ENST00000579208.1_Silent_p.I581I|KIAA0195_ENST00000375248.5_Silent_p.I940I NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 930 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CGGACCTCATCAGCTTCCAGC 0.597000 16 53 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109732234 109732234 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:109732234C>T ENST00000369939.3 + 11 1552 c.1369C>T c.(1369-1371)Cac>Tac p.H457Y KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.H370Y NM_020775.4 NP_065826 Q6UXG2 K1324_HUMAN KIAA1324 457 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GGCTGGTGATCACATTTACAC 0.517000 15 21 0 0 1 0 0 CTDSPL2 51496 broad.mit.edu 37 15 44778881 44778881 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr15:44778881C>T ENST00000260327.4 + 4 1021 c.458C>T c.(457-459)tCa>tTa p.S153L CTDSPL2_ENST00000558966.1_Missense_Mutation_p.S153L|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.S153L|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.S153L NM_016396.2 NP_057480.2 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 153 phosphoprotein phosphatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 13 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) AACTTTTTTTCACCAGCAAAT 0.303000 22 80 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81111214 81111214 + Silent SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:81111214C>G ENST00000228644.3 + 1 524 c.372C>G c.(370-372)ctC>ctG p.L124L NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 124 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 TGGAGATCCTCAGGAATGCCA 0.597000 52 81 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13068356 13068356 + Splice_Site SNP A A G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:13068356A>G ENST00000506447.1 + 24 4838 c.e24-1 CEP192_ENST00000430049.2_Splice_Site|CEP192_ENST00000325971.8_Splice_Site NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TTAATTTTATAGGATCCAGAA 0.294000 18 27 0 0 1 0 0 CCZ1 51622 broad.mit.edu 37 7 5942310 5942310 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:5942310C>G ENST00000325974.6 + 6 523 c.457C>G c.(457-459)Ctg>Gtg p.L153V CCZ1_ENST00000537980.1_Missense_Mutation_p.L10V NM_015622.5 NP_056437.4 P86790 CCZ1L_HUMAN CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae) 153 lysosomal membrane large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 6 TGGTACATTTCTGAAAGCCAT 0.323000 19 33 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24523032 24523032 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:24523032C>G ENST00000355123.4 - 12 1533 c.1090G>C c.(1090-1092)Gag>Cag p.E364Q ITSN2_ENST00000361999.3_Missense_Mutation_p.E364Q|ITSN2_ENST00000406921.3_Missense_Mutation_p.E364Q NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 364 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGTTTGTCCTCAAAAGTAACT 0.448000 39 55 0 0 1 0 0 SLC25A18 83733 broad.mit.edu 37 22 18070755 18070755 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr22:18070755G>A ENST00000327451.6 + 9 1178 c.640G>A c.(640-642)Gag>Aag p.E214K SLC25A18_ENST00000399813.1_Missense_Mutation_p.E214K|AC004019.13_ENST00000443935.1_RNA NM_031481.1 NP_113669.1 Q9H1K4 GHC2_HUMAN solute carrier family 25 (glutamate carrier), member 18 integral to membrane|mitochondrial inner membrane binding|symporter activity breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 18 Lung(27;0.124) L-Glutamic Acid(DB00142) GGGGTTCAACGAGCTCGCCGG 0.532000 42 69 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133073771 133073771 + Missense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:133073771G>T ENST00000326499.6 - 4 779 c.655C>A c.(655-657)Cct>Act p.P219T VNN2_ENST00000525270.1_Missense_Mutation_p.P166T|VNN2_ENST00000525289.1_Intron NM_004665.2 NP_004656 O95498 VNN2_HUMAN vanin 2 219 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) GTAACACCAGGATCATAGAAG 0.438000 45 109 9.84934e-19 1.04848e-18 1 1 0 ZC3H12B 340554 broad.mit.edu 37 X 64722819 64722819 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chrX:64722819G>C ENST00000338957.4 + 5 2308 c.2241G>C c.(2239-2241)ttG>ttC p.L747F ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L736F NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 736 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCTATCCCTTGAGTAACAGCC 0.557000 16 11 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24800967 24800967 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:24800967C>T ENST00000395799.3 + 6 1133 c.1004C>T c.(1003-1005)tCt>tTt p.S335F TNRC6A_ENST00000315183.7_Missense_Mutation_p.S335F NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 335 Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) GAAAGCAAATCTGAAAGTAGC 0.438000 39 49 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 88053553 88053553 + Missense_Mutation SNP A A G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr4:88053553A>G ENST00000307808.6 + 18 3703 c.3283A>G c.(3283-3285)Att>Gtt p.I1095V AFF1_ENST00000395146.4_Missense_Mutation_p.I1102V|AFF1_ENST00000544085.1_Missense_Mutation_p.I733V NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 1095 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TTCTCCATGCATTGCAAGGTA 0.343000 17 25 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228556048 228556048 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:228556048C>T ENST00000570156.2 + 99 22643 c.22569C>T c.(22567-22569)gtC>gtT p.V7523V OBSCN_ENST00000422127.1_Silent_p.V6566V|OBSCN_ENST00000366707.4_Silent_p.V4200V NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6566 Ig-like 55. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGTCAAGGTCTACATCCAGC 0.622000 4 9 0 0 1 0 0 CHIT1 1118 broad.mit.edu 37 1 203192777 203192777 + Missense_Mutation SNP A A T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:203192777A>T ENST00000367229.1 - 5 360 c.326T>A c.(325-327)aTg>aAg p.M109K CHIT1_ENST00000255427.3_Missense_Mutation_p.M90K|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.M100K NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 109 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 CGTGGCTACCATATCTGTGAA 0.542000 51 180 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3819201 3819201 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:3819201C>T ENST00000262367.5 - 15 3843 c.3034G>A c.(3034-3036)Gaa>Aaa p.E1012K CREBBP_ENST00000382070.3_Missense_Mutation_p.E974K NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1012 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.E1012K(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CCTTTGGATTCACCAGGATCG 0.592000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 36 57 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101349412 101349412 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:101349412C>G ENST00000534062.1 - 1 1772 c.1714G>C c.(1714-1716)Gat>Cat p.D572H MIR127_ENST00000384876.1_RNA NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 572 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 GTCTCATCATCTGCTTCCTTC 0.572000 7 13 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112476059 112476059 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:112476059C>G ENST00000230538.7 - 16 2447 c.2050G>C c.(2050-2052)Gag>Cag p.E684Q RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.E677Q|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.E677Q|LAMA4_ENST00000424408.2_Missense_Mutation_p.E677Q|RP1-142L7.5_ENST00000588689.1_RNA NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 684 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding p.E677K(1) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TTACTAGACTCTGCCTTTGCT 0.393000 25 58 0 0 1 0 0 HAS2 3037 broad.mit.edu 37 8 122626714 122626714 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:122626714C>G ENST00000303924.4 - 4 1831 c.1294G>C c.(1294-1296)Gtc>Ctc p.V432L NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 432 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) AAGACCATGACGATATTTCCT 0.428000 9 206 0 0 1 0 0 TFAP2C 7022 broad.mit.edu 37 20 55206428 55206428 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr20:55206428G>A ENST00000201031.2 + 2 459 c.216G>A c.(214-216)tcG>tcA p.S72S TFAP2C_ENST00000544508.1_5'UTR NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 72 Gln/Pro-rich (transactivation domain). cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) ACTCCCAGTCGGCCGACCCCT 0.701000 15 34 0 0 1 0 0 POLD3 10714 broad.mit.edu 37 11 74303737 74303737 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:74303737G>A ENST00000263681.2 + 1 163 c.34G>A c.(34-36)Gag>Aag p.E12K POLD3_ENST00000532784.1_3'UTR|POLD3_ENST00000532497.1_5'UTR|POLD3_ENST00000527458.1_5'UTR NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 12 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) AAATATAGACGAGTTCGTCAC 0.642000 15 18 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43298877 43298877 + Missense_Mutation SNP G G A rs75817094 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr21:43298877G>A ENST00000269844.3 - 3 450 c.340C>T c.(340-342)Cgg>Tgg p.R114W PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000422911.1_Intron NM_022115.3 NP_071398.3 P57071 PRD15_HUMAN PR domain containing 15 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 GGCTGTACCCGAGGGCGGGGG 0.766000 12 6 0 0 1 0 0 IQCB1 9657 broad.mit.edu 37 3 121491473 121491473 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:121491473C>G ENST00000310864.6 - 14 1712 c.1498G>C c.(1498-1500)Gaa>Caa p.E500Q IQCB1_ENST00000349820.6_Missense_Mutation_p.E367Q NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 500 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) GCTCGCTCTTCTAGGGCCCTG 0.498000 41 84 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49427126 49427126 + Nonsense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:49427126G>A ENST00000301067.7 - 39 11361 c.11362C>T c.(11362-11364)Cag>Tag p.Q3788* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GACAGCTGCTGGACCAGGAGG 0.667000 5 6 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48312697 48312697 + Missense_Mutation SNP A A G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:48312697A>G ENST00000435803.1 + 17 3458 c.3434A>G c.(3433-3435)cAc>cGc p.H1145R NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1145 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ATGTCCATTCACTGTACCGTT 0.353000 15 43 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129185821 129185821 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:129185821C>G ENST00000296266.3 + 9 997 c.805C>G c.(805-807)Ctg>Gtg p.L269V IFT122_ENST00000348417.2_Missense_Mutation_p.L218V|IFT122_ENST00000431818.2_Missense_Mutation_p.L68V|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000347300.2_Intron NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 218 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 CCCTTCCACTCTGAAGTCAGC 0.498000 33 64 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95392433 95392433 + Silent SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:95392433G>T ENST00000336148.5 - 12 2311 c.2187C>A c.(2185-2187)ctC>ctA p.L729L NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) ATCCTCCAATGAGGTTAAGTC 0.353000 Direct reversal of damage;Homologous recombination 14 19 1.49906e-05 1.52997e-05 1 1 0 VPS53 55275 broad.mit.edu 37 17 617947 617947 + Translation_Start_Site SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:617947C>G ENST00000437048.2 - 1 149 c.3G>C c.(1-3)atG>atC p.M1I VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000401468.3_Start_Codon_SNP_p.M1I|VPS53_ENST00000574029.1_Start_Codon_SNP_p.M1I|VPS53_ENST00000571805.1_Start_Codon_SNP_p.M1I|VPS53_ENST00000291074.5_Start_Codon_SNP_p.M1I NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 1 protein transport endosome membrane|Golgi apparatus breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) CCTCCTCCATCATTCCGCCAC 0.706000 35 79 0 0 1 0 0 MMS22L 253714 broad.mit.edu 37 6 97626386 97626386 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:97626386G>A ENST00000275053.4 - 18 2877 c.2612C>T c.(2611-2613)tCa>tTa p.S871L MMS22L_ENST00000369251.2_Missense_Mutation_p.S831L NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 871 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 TTGGGCCTTTGAGAAAATACT 0.299000 14 46 0 0 1 0 0 ZNF682 91120 broad.mit.edu 37 19 20118011 20118011 + Silent SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:20118011C>A ENST00000397165.2 - 4 460 c.300G>T c.(298-300)ctG>ctT p.L100L ZNF682_ENST00000358523.5_Silent_p.L68L|ZNF682_ENST00000397162.1_Silent_p.L68L|ZNF682_ENST00000597972.1_Silent_p.L106L|ZNF682_ENST00000593468.1_3'UTR|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Silent_p.L24L NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L100L(1) endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 CATATCTTCTCAGTATCACTT 0.358000 9 5 7.48243e-07 7.66304e-07 1 1 0 UBN2 254048 broad.mit.edu 37 7 138968238 138968238 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:138968238C>G ENST00000473989.3 + 15 2587 c.2587C>G c.(2587-2589)Cag>Gag p.Q863E UBN2_ENST00000288561.8_Missense_Mutation_p.Q780E NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 TTCTTCCATTCAGAACCCTAA 0.463000 42 66 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115609492 115609492 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:115609492G>A ENST00000361384.2 - 2 2289 c.1372C>T c.(1372-1374)Ctt>Ttt p.L458F DCLRE1A_ENST00000369305.1_Missense_Mutation_p.L458F NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 458 Nuclear focus formation. cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) ACTAACGGAAGAGAAACTTGA 0.343000 Other identified genes with known or suspected DNA repair function 19 38 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48622544 48622544 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:48622544G>A ENST00000328333.8 - 32 4007 c.3900C>T c.(3898-3900)ttC>ttT p.F1300F COL7A1_ENST00000454817.1_Silent_p.F1300F NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1300 Interrupted collagenous region.|Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTGCTCCAGGGAAGCCCTGAG 0.667000 12 37 0 0 1 0 0 GPSM1 26086 broad.mit.edu 37 9 139250815 139250815 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr9:139250815C>T ENST00000440944.1 + 13 1854 c.1634C>T c.(1633-1635)tCg>tTg p.S545L GPSM1_ENST00000392944.1_Missense_Mutation_p.S36L|GPSM1_ENST00000429455.1_Missense_Mutation_p.S36L NM_001145638.1 NP_001139110 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 545 cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) ATGACGGCCTCGCCCCAGACC 0.721000 9 8 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90402857 90402857 + Nonsense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:90402857G>A ENST00000369393.3 - 63 10007 c.9892C>T c.(9892-9894)Caa>Taa p.Q3298* MDN1_ENST00000428876.1_Nonsense_Mutation_p.Q3298* Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3298 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCCATCCTTTGGCGAAGCAGC 0.473000 8 26 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098799 178098799 + Missense_Mutation SNP T T A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:178098799T>A ENST00000397062.3 - 2 800 c.246A>T c.(244-246)gaA>gaT p.E82D NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66D|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66D|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66D|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66D NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 82 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E82D(8)|p.G81_F83delGEF(1) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TTGGGAGAAATTCACCTGTCT 0.433000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 20 33 0 0 1 0 0 LRFN1 57622 broad.mit.edu 37 19 39804928 39804928 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:39804928C>T ENST00000248668.4 - 1 1048 c.1049G>A c.(1048-1050)cGg>cAg p.R350Q NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 350 Ig-like. cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CCCGTCCCCCCGGACCCGGGT 0.692000 7 16 0 0 1 0 0 KLHL41 10324 broad.mit.edu 37 2 170371102 170371102 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:170371102G>A ENST00000284669.1 + 2 1206 c.1129G>A c.(1129-1131)Gaa>Aaa p.E377K BBS5_ENST00000554017.1_Missense_Mutation_p.E315K|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.E315K|KLHL41_ENST00000463400.1_3'UTR NM_006063.2 NP_006054.2 kelch-like family member 41 CATAGCATCTGAATGGGTTGG 0.398000 24 33 0 0 1 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48204667 48204667 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:48204667C>T ENST00000396720.3 + 15 3872 c.3678C>T c.(3676-3678)ccC>ccT p.P1226P CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 1226 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GCCACGGCCCCCTGTCGTCTT 0.692000 6 11 0 0 1 0 0 IL22RA1 58985 broad.mit.edu 37 1 24463780 24463780 + Frame_Shift_Del DEL C C - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:24463780delC ENST00000270800.1 - 3 234 c.196delG c.(196-198)gtgfs p.V66fs NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 66 Fibronectin type-III 1. integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) TTCTTTGCCACCCAGTCCCTC 0.587 22 75 --- --- --- --- NGEF 25791 broad.mit.edu 37 2 233744322 233744324 + In_Frame_Del DEL CTC CTC - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:233744322_233744324delCTC ENST00000264051.3 - 15 2286_2288 c.2008_2010delGAG c.(2008-2010)gagdel p.E670del NGEF_ENST00000539537.1_In_Frame_Del_p.E393del|NGEF_ENST00000373552.4_In_Frame_Del_p.E578del NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 670 SH3. apoptosis|cell differentiation|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 cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GATTCAAGATCTCCTCAGTCATG 0.581 44 106 --- --- --- --- CDKN1A 1026 broad.mit.edu 37 6 36652009 36652010 + Frame_Shift_Ins INS - - GG TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:36652009_36652010insGG ENST00000405375.1 + 2 366_367 c.131_132insGG c.(130-135)gaggccfs p.A45fs CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.A45fs|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.A79fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.A45fs NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 45 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 TGCATCCAGGAGGCCCGTGAGC 0.658 17 39 --- --- --- --- UNC5CL 222643 broad.mit.edu 37 6 40996310 40996316 + Frame_Shift_Del DEL GGGGCTG GGGGCTG - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:40996310_40996316delGGGGCTG ENST00000244565.3 - 9 1441_1447 c.1353_1359delCAGCCCC c.(1351-1359)cgcagccccfs p.RSP451fs UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000373164.1_Frame_Shift_Del_p.RSP451fs NM_173561.2 NP_775832.2 Q8IV45 UN5CL_HUMAN unc-5 homolog C (C. elegans)-like 451 Death. signal transduction cytoplasm|integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) TGGCCGCTGCGGGGCTGCGCTGGCAGG 0.671 12 66 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151845284 151845288 + Frame_Shift_Del DEL GAAGA GAAGA - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:151845284_151845288delGAAGA ENST00000355193.2 - 53 14113_14117 c.13895_13899delTCTTC c.(13894-13899)ctcttcfs p.LF4632fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.LF4575fs lysine (K)-specific methyltransferase 2C AGCCCACAGGGAAGAGTGCTTTAGG 0.566 16 41 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151877140 151877140 + Frame_Shift_Del DEL C C - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:151877140delC ENST00000355193.2 - 37 7439 c.7221delG c.(7219-7221)gggfs p.G2407fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.G2407fs lysine (K)-specific methyltransferase 2C AGTCCTGTGACCCCTTCTCCT 0.522 118 249 --- --- --- --- LOC441666 441666 broad.mit.edu 37 10 42832502 42832503 + RNA INS - - TATCA TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:42832502_42832503insTATCA ENST00000609841.1 - 0 1400_1401 NR_024380.1 CCCCTATCAATTATGTTTAGTA 0.366 3 4 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)cggagtdel p.RS1367del ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 3 5 --- --- --- --- LEPREL2 10536 broad.mit.edu 37 12 6940594 6940594 + RNA DEL C C - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:6940594delC ENST00000251761.8 + 0 1155 LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA NM_014262.3 NP_055077.2 leprecan-like 2 breast(1)|cervix(1)|endometrium(2)|lung(6) 10 TGGACCCCCACCCCCCGCTGG 0.602 9 11 --- --- --- --- CAB39L 81617 broad.mit.edu 37 13 49957036 49957037 + Frame_Shift_Ins INS - - T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr13:49957036_49957037insT ENST00000355854.4 - 2 507_508 c.10_11insA c.(10-12)atgfs p.M4fs CAB39L_ENST00000476943.1_5'UTR|CAB39L_ENST00000347776.5_Frame_Shift_Ins_p.M4fs|CAB39L_ENST00000409308.1_Frame_Shift_Ins_p.M4fs|CAB39L_ENST00000410043.1_Frame_Shift_Ins_p.M4fs NM_030925.2 NP_112187.2 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 4 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1) 12 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) AAACAAAGGCATTTTTTTCATG 0.287 16 63 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061263 38061263 + Frame_Shift_Del DEL G G - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:38061263delG ENST00000250448.2 - 2 787 c.726delC c.(724-726)tccfs p.S242fs FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Del_p.S209fs NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 242 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) GCGTCCAGTAGGAGCCCTTGC 0.647 46 39 --- --- --- --- SPG21 51324 broad.mit.edu 37 15 65275846 65275846 + Splice_Site DEL T T - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr15:65275846delT ENST00000204566.2 - 2 357 c.62delA c.(61-63)aag>ag p.K21fs SPG21_ENST00000416889.2_Splice_Site_p.K21fs|SPG21_ENST00000560564.1_Intron|SPG21_ENST00000433215.2_Splice_Site_p.K21fs NM_016630.3 NP_057714.1 Q9NZD8 SPG21_HUMAN spastic paraplegia 21 (autosomal recessive, Mast syndrome) 21 cell death cytosol|endosome membrane|trans-Golgi network transport vesicle CD4 receptor binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1) 10 CATACATACCTTTTTAAGGGG 0.333 2 4 --- --- --- --- TNRC6A 27327 broad.mit.edu 37 16 24807240 24807240 + Frame_Shift_Del DEL A A - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:24807240delA ENST00000395799.3 + 9 3670 c.3541delA c.(3541-3543)aaafs p.K1182fs TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1182 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTGAGTGGCAAAAAAAGGAG 0.398 7 164 --- --- --- --- MYOM1 8736 broad.mit.edu 37 18 3164366 3164366 + Frame_Shift_Del DEL G G - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:3164366delG ENST00000356443.4 - 10 1744 c.1411delC c.(1411-1413)catfs p.H471fs MYOM1_ENST00000261606.7_Frame_Shift_Del_p.H471fs|MYOM1_ENST00000400569.3_Frame_Shift_Del_p.H471fs NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 471 Ig-like C2-type 2. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTGTTGAGATGGGAAAATGTC 0.393 9 15 --- --- --- --- SMARCA4 6597 broad.mit.edu 37 19 11138595 11138596 + Frame_Shift_Ins INS - - TA TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:11138595_11138596insTA ENST00000358026.2 + 24 3635_3636 c.3351_3352insTA c.(3352-3354)tatfs p.Y1118fs SMARCA4_ENST00000590574.1_Frame_Shift_Ins_p.Y1118fs|SMARCA4_ENST00000541122.2_Frame_Shift_Ins_p.Y1118fs|SMARCA4_ENST00000429416.3_Frame_Shift_Ins_p.Y1118fs|SMARCA4_ENST00000413806.3_Frame_Shift_Ins_p.Y1118fs|SMARCA4_ENST00000450717.3_Frame_Shift_Ins_p.Y1118fs|SMARCA4_ENST00000344626.4_Frame_Shift_Ins_p.Y1118fs|SMARCA4_ENST00000444061.3_Frame_Shift_Ins_p.Y1118fs|SMARCA4_ENST00000589677.1_Frame_Shift_Ins_p.Y1118fs NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1118 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(2) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) ATTACTTTGCGTATCGCGGCTT 0.475 """F, N, Mis""" NSCLC 7 196 --- --- --- ---