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 MAP3K9 4293 broad.mit.edu 37 14 71209102 71209102 + Missense_Mutation SNP C C A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr14:71209102C>A ENST00000554752.2 - 6 1532 c.1533G>T c.(1531-1533)aaG>aaT p.K511N MAP3K9_ENST00000381250.4_Missense_Mutation_p.K511N|MAP3K9_ENST00000555993.2_Missense_Mutation_p.K511N|MAP3K9_ENST00000554146.1_Missense_Mutation_p.K248N|MAP3K9_ENST00000553414.1_Missense_Mutation_p.K205N P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 511 KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4). activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CATCCTTGAGCTTCAGCCGGC 0.592000 19 90 4.35082e-09 4.54858e-09 1 1 0 NCOA3 8202 broad.mit.edu 37 20 46262832 46262832 + Silent SNP C C T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr20:46262832C>T ENST00000372004.3 + 10 1221 c.1005C>T c.(1003-1005)ttC>ttT p.F335F NCOA3_ENST00000371997.3_Silent_p.F345F|NCOA3_ENST00000371998.3_Silent_p.F335F|NCOA3_ENST00000341724.6_Silent_p.F345F NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 335 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TATATCGATTCTCGTTGGCTG 0.413000 20 94 0 0 1 0 0 NR0B2 8431 broad.mit.edu 37 1 27240111 27240111 + Missense_Mutation SNP A A T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr1:27240111A>T ENST00000254227.3 - 1 346 c.321T>A c.(319-321)ttT>ttA p.F107L NM_021969.2 NP_068804.1 Q15466 NR0B2_HUMAN nuclear receptor subfamily 0, group B, member 2 107 Ligand-binding (By similarity). cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity NS(1)|large_intestine(1)|lung(3) 5 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) CAGCCACCTCAAAGGTCACAG 0.647000 6 21 0 0 1 0 0 MAN2A1 4124 broad.mit.edu 37 5 109049257 109049257 + Missense_Mutation SNP T T G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr5:109049257T>G ENST00000261483.4 + 2 1224 c.172T>G c.(172-174)Ttg>Gtg p.L58V NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 58 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) AATAGACCATTTGGAGCGTTT 0.378000 16 48 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 4 41 0.184627 0.184627 1 1 0 TRIM37 4591 broad.mit.edu 37 17 57134361 57134361 + Missense_Mutation SNP A A T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:57134361A>T ENST00000376149.3 - 13 1517 c.708T>A c.(706-708)aaT>aaA p.N236K TRIM37_ENST00000262294.7_Missense_Mutation_p.N358K|TRIM37_ENST00000393065.2_Missense_Mutation_p.N324K|TRIM37_ENST00000393066.3_Missense_Mutation_p.N358K O94972 TRI37_HUMAN tripartite motif containing 37 358 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) CTCGAATGATATTTTTTGTAG 0.343000 Mulibrey Nanism 10 40 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240549 39240549 + Missense_Mutation SNP C C G rs151117992 by1000genomes TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:39240549C>G ENST00000391417.4 + 1 91 c.91C>G c.(91-93)Cag>Gag p.Q31E NM_033061.3 NP_149050.3 keratin associated protein 4-7 NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 CAGCTGCTGTCAGACCACCTG 0.632000 4 44 0 0 1 0 0 ADNP 23394 broad.mit.edu 37 20 49511038 49511038 + Silent SNP T T C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr20:49511038T>C ENST00000396029.3 - 5 780 c.213A>G c.(211-213)acA>acG p.T71T ADNP_ENST00000349014.3_Silent_p.T71T|ADNP_ENST00000371602.4_Silent_p.T71T|ADNP_ENST00000396032.3_Silent_p.T71T NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 71 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 AGAAAGGTTTTGTCCGATAGT 0.393000 8 42 0 0 1 0 0 PSMD3 5709 broad.mit.edu 37 17 38152483 38152483 + Silent SNP C C G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:38152483C>G ENST00000264639.4 + 10 1542 c.1368C>G c.(1366-1368)ggC>ggG p.G456G PSMD3_ENST00000541736.1_Silent_p.G318G NM_002809.3 NP_002800.2 O43242 PSMD3_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 456 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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) ACGAGAAGGGCTATGTCCAAT 0.527000 37 114 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726072 53726072 + Silent SNP G G A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr16:53726072G>A ENST00000262135.4 - 4 528 c.435C>T c.(433-435)taC>taT p.Y145Y RPGRIP1L_ENST00000564374.1_Silent_p.Y145Y|RPGRIP1L_ENST00000379925.3_Silent_p.Y145Y|RPGRIP1L_ENST00000563746.1_Silent_p.Y145Y NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 145 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) GAGTTTGCCTGTAACCCTGGG 0.398000 50 104 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56487562 56487562 + Missense_Mutation SNP T T A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr19:56487562T>A ENST00000291971.3 + 8 2840 c.2769T>A c.(2767-2769)aaT>aaA p.N923K NLRP8_ENST00000590542.1_Missense_Mutation_p.N904K NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 923 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TCTGTAAAAATAAAACCCTGA 0.413000 9 56 0 0 1 0 0 SEC31A 22872 broad.mit.edu 37 4 83778132 83778132 + Silent SNP G G A rs149546168 byFrequency TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr4:83778132G>A ENST00000432794.1 - 16 2017 c.1854C>T c.(1852-1854)ttC>ttT p.F618F SEC31A_ENST00000508479.1_Silent_p.F618F|SEC31A_ENST00000348405.4_Silent_p.F579F|SEC31A_ENST00000395310.2_Silent_p.F618F|SEC31A_ENST00000505472.1_Silent_p.F618F|SEC31A_ENST00000505984.1_Silent_p.F579F|SEC31A_ENST00000500777.2_Silent_p.F579F|SEC31A_ENST00000448323.1_Silent_p.F618F|SEC31A_ENST00000326950.5_Silent_p.F579F|SEC31A_ENST00000443462.2_Silent_p.F613F|SEC31A_ENST00000355196.2_Silent_p.F618F|SEC31A_ENST00000311785.7_Silent_p.F618F|SEC31A_ENST00000513858.1_Silent_p.F579F|SEC31A_ENST00000264405.5_Silent_p.F351F|SEC31A_ENST00000509142.1_Silent_p.F618F|SEC31A_ENST00000508502.1_Silent_p.F618F O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 618 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding p.F618F(2) SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GGGATTTTGCGAAGTATTTTT 0.343000 23 21 0 0 1 0 0 KDM1B 221656 broad.mit.edu 37 6 18207632 18207632 + Missense_Mutation SNP T T C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr6:18207632T>C ENST00000388870.2 + 16 1904 c.1663T>C c.(1663-1665)Tct>Cct p.S555P KDM1B_ENST00000297792.5_Missense_Mutation_p.S323P|KDM1B_ENST00000397244.1_Missense_Mutation_p.S323P|KDM1B_ENST00000546309.2_Intron Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 555 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 TTCCCAGGTATCTGCTCGCTC 0.522000 6 63 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95479763 95479763 + Missense_Mutation SNP C C T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr8:95479763C>T ENST00000336148.5 - 2 129 c.5G>A c.(4-6)aGa>aAa p.R2K RAD54B_ENST00000297592.5_Missense_Mutation_p.R2K 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) TGCAGATCGTCTCATATTCAG 0.378000 Direct reversal of damage;Homologous recombination 8 140 0 0 1 0 0 HIP1R 9026 broad.mit.edu 37 12 123339674 123339674 + Splice_Site SNP A A C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr12:123339674A>C ENST00000253083.4 + 10 976 c.852_splice c.e10+1 p.E284_splice NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 284 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) CGGCTGCCCGAGGTACCACCC 0.637000 24 64 0 0 1 0 0 KIF18B 146909 broad.mit.edu 37 17 43008985 43008985 + Missense_Mutation SNP C C T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:43008985C>T ENST00000587309.1 - 11 1561 c.1538G>A c.(1537-1539)gGg>gAg p.G513E KIF18B_ENST00000590129.1_Missense_Mutation_p.G522E|KIF18B_ENST00000438933.2_Missense_Mutation_p.G513E|KIF18B_ENST00000339151.4_Missense_Mutation_p.G513E|KIF18B_ENST00000593135.1_Missense_Mutation_p.G501E NM_001264573.1 NP_001251503.1 kinesin family member 18B breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) AGAACGGTCCCCATCCAGTTC 0.572000 14 49 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 4 61 0 0 1 0 0 STK16 8576 broad.mit.edu 37 2 220112399 220112399 + Missense_Mutation SNP C C T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr2:220112399C>T ENST00000409638.3 + 6 749 c.577C>T c.(577-579)Cgg>Tgg p.R193W STK16_ENST00000409260.1_Missense_Mutation_p.R238W|STK16_ENST00000396738.2_Missense_Mutation_p.R193W|STK16_ENST00000409743.1_Intron|STK16_ENST00000409516.3_Missense_Mutation_p.R75W NM_001008910.2 NP_001008910.1 O75716 STK16_HUMAN serine/threonine kinase 16 193 Protein kinase. protein complex assembly membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(1) 1 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCAGCCCAGCGGTGCACCAT 0.587000 4 11 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784630 82784630 + Nonsense_Mutation SNP G G A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr7:82784630G>A ENST00000423517.2 - 2 1664 c.1327C>T c.(1327-1329)Cag>Tag p.Q443* PCLO_ENST00000333891.8_Nonsense_Mutation_p.Q443* NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 394 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. A -> T (in Ref. 4; CAB60727). cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCCCAGGCTGCTGAACTGGA 0.592000 15 74 0 0 1 0 0 HS3ST3A1 9955 broad.mit.edu 37 17 13503870 13503870 + Missense_Mutation SNP C C G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:13503870C>G ENST00000284110.1 - 1 1374 c.577G>C c.(577-579)Gac>Cac p.D193H NM_006042.1 NP_006033.1 Q9Y663 HS3SA_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 193 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AGGCCCTTGTCGTAGCTGCGG 0.726000 3 4 0 0 1 0 0 TRAF3IP1 26146 broad.mit.edu 37 2 239253162 239253162 + Nonsense_Mutation SNP C C G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr2:239253162C>G ENST00000373327.4 + 9 1406 c.1184C>G c.(1183-1185)tCa>tGa p.S395* TRAF3IP1_ENST00000391993.3_Intron|TRAF3IP1_ENST00000391994.2_Nonsense_Mutation_p.S395* NM_015650.3 NP_056465.2 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting protein 1 395 DISC1-interaction domain. cytoplasm|cytoskeleton protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2) 23 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) AATATTAACTCAACTAGTATT 0.403000 8 22 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228474605 228474605 + Missense_Mutation SNP G G A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr1:228474605G>A ENST00000570156.2 + 40 10770 c.10696G>A c.(10696-10698)Ggg>Agg p.G3566R OBSCN_ENST00000284548.11_Missense_Mutation_p.G3137R|OBSCN_ENST00000359599.6_Missense_Mutation_p.G1984R|OBSCN_ENST00000366709.4_Missense_Mutation_p.G256R|OBSCN_ENST00000422127.1_Missense_Mutation_p.G3137R|OBSCN_ENST00000366707.4_Missense_Mutation_p.G256R NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2599 Ig-like 36. 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) GACCCTGCGGGGGTCTGCCCG 0.642000 5 31 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53664186 53664186 + Nonsense_Mutation SNP C C T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr12:53664186C>T ENST00000257934.4 + 4 1259 c.1168C>T c.(1168-1170)Cag>Tag p.Q390* ESPL1_ENST00000552462.1_Nonsense_Mutation_p.Q390* NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 390 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CTCCAAGCAACAGCAGTCTTT 0.512000 26 102 0 0 1 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 4 27 0 0 1 0 0 EDN1 1906 broad.mit.edu 37 6 12292703 12292703 + Missense_Mutation SNP A A G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr6:12292703A>G ENST00000379375.5 + 2 461 c.194A>G c.(193-195)tAc>tGc p.Y65C NM_001168319.1|NM_001955.4 NP_001161791.1|NP_001946.3 P05305 EDN1_HUMAN endothelin 1 65 artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) GAGTGTGTCTACTTCTGCCAC 0.582000 21 73 0 0 1 0 0 C2CD2 25966 broad.mit.edu 37 21 43321836 43321836 + Silent SNP C C T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr21:43321836C>T ENST00000380486.3 - 12 1696 c.1455G>A c.(1453-1455)tcG>tcA p.S485S C2CD2_ENST00000329623.7_Silent_p.S330S NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 485 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 CCACTGGATCCGAACCATTCA 0.428000 8 44 0 0 1 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49971706 49971706 + Silent SNP G G A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr19:49971706G>A ENST00000293350.4 + 15 2170 c.2007G>A c.(2005-2007)ccG>ccA p.P669P ALDH16A1_ENST00000540132.1_Silent_p.P506P|ALDH16A1_ENST00000455361.2_Silent_p.P618P|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Silent_p.P504P NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 669 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) TGGTGTGTCCGGACGAGTGGC 0.697000 19 186 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518628 113518628 + Missense_Mutation SNP C C T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr7:113518628C>T ENST00000284601.3 - 4 2587 c.2519G>A c.(2518-2520)gGa>gAa p.G840E NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 840 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TGTTATATTTCCAGTGCCACA 0.373000 27 128 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45749907 45749907 + Missense_Mutation SNP A A G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr22:45749907A>G ENST00000357450.4 - 21 3223 c.3224T>C c.(3223-3225)aTc>aCc p.I1075T SMC1B_ENST00000404354.3_Missense_Mutation_p.I1075T NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 1075 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) ATCAATTGAGATTGAGACATG 0.433000 19 106 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520479 33520479 + Missense_Mutation SNP C C T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:33520479C>T ENST00000297307.5 - 1 933 c.848G>A c.(847-849)tGc>tAc p.C283Y NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 283 DUF6 2. integral to membrane TAGGACAGCGCACACCAGGGC 0.582000 29 88 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240560 39240560 + Silent SNP T T C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:39240560T>C ENST00000391417.4 + 1 102 c.102T>C c.(100-102)tgT>tgC p.C34C NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.C34C(2) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 AGACCACCTGTTGCAGGACCA 0.647000 4 46 0 0 1 0 0 ATP6V1G1 9550 broad.mit.edu 37 9 117359956 117359956 + Missense_Mutation SNP A A G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr9:117359956A>G ENST00000374050.3 + 3 383 c.290A>G c.(289-291)gAc>gGc p.D97G NM_004888.3 NP_004879.1 O75348 VATG1_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 97 cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances endometrium(1)|lung(2)|prostate(1)|skin(1) 5 GAAGTCTTGGACAACCTCTTG 0.502000 9 30 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 58287686 58287686 + Missense_Mutation SNP T T G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr5:58287686T>G ENST00000340635.6 - 8 1336 c.1161A>C c.(1159-1161)aaA>aaC p.K387N PDE4D_ENST00000546160.1_Missense_Mutation_p.K326N|PDE4D_ENST00000358923.6_Missense_Mutation_p.K85N|PDE4D_ENST00000405755.2_Missense_Mutation_p.K265N|PDE4D_ENST00000360047.5_Missense_Mutation_p.K251N|PDE4D_ENST00000503258.1_Missense_Mutation_p.K257N|PDE4D_ENST00000507116.1_Missense_Mutation_p.K323N|PDE4D_ENST00000502484.2_Missense_Mutation_p.K326N|PDE4D_ENST00000317118.8_Missense_Mutation_p.K96N NM_001104631.1 NP_001098101.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 387 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) CTTGTTCAGTTTTAACTCCAA 0.358000 7 8 0 0 1 0 0 ABHD5 51099 broad.mit.edu 37 3 43756543 43756543 + Missense_Mutation SNP A A G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr3:43756543A>G ENST00000458276.2 + 5 889 c.766A>G c.(766-768)Act>Gct p.T256A NM_016006.4 NP_057090.2 Q8WTS1 ABHD5_HUMAN abhydrolase domain containing 5 256 cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process cytosol|lipid particle 1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1) 14 Renal(3;0.0134) KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687) TAATGTGCAGACTCCAAGGTG 0.393000 13 68 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15079275 15079275 + Missense_Mutation SNP G G A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr19:15079275G>A ENST00000598504.1 - 6 1747 c.388C>T c.(388-390)Cgg>Tgg p.R130W SLC1A6_ENST00000600144.1_Missense_Mutation_p.R130W|SLC1A6_ENST00000430939.2_Intron|SLC1A6_ENST00000221742.3_Missense_Mutation_p.R130W|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R130W NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 130 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) ACAGCTGCCCGCATCCCCATC 0.607000 6 16 0 0 1 0 0 MPPED1 758 broad.mit.edu 37 22 43831006 43831006 + Missense_Mutation SNP G G A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr22:43831006G>A ENST00000417669.1 + 3 721 c.277G>A c.(277-279)Gtc>Atc p.V93I MPPED1_ENST00000542779.1_Missense_Mutation_p.V93I|MPPED1_ENST00000443721.1_Missense_Mutation_p.V93I|MPPED1_ENST00000538182.1_Missense_Mutation_p.V126I|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000439548.1_Intron O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 93 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) CACCCGCTTCGTCTGCGTCTC 0.652000 22 117 0 0 1 0 0 SLC9B1 150159 broad.mit.edu 37 4 103867814 103867814 + Missense_Mutation SNP A A G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr4:103867814A>G ENST00000296422.7 - 5 656 c.515T>C c.(514-516)cTc>cCc p.L172P SLC9B1_ENST00000394789.3_Missense_Mutation_p.L172P NM_139173.3 NP_631912.2 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 172 integral to membrane solute:hydrogen antiporter activity CTGTGGATCGAGTCCAAGCCC 0.348000 22 52 0 0 1 0 0 DDAH2 23564 broad.mit.edu 37 6 31696023 31696023 + Missense_Mutation SNP C C T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr6:31696023C>T ENST00000375792.3 - 5 1148 c.518G>A c.(517-519)cGc>cAc p.R173H DDAH2_ENST00000480913.1_5'UTR|DDAH2_ENST00000375789.2_Missense_Mutation_p.R173H|DDAH2_ENST00000375787.2_Missense_Mutation_p.R173H O95865 DDAH2_HUMAN dimethylarginine dimethylaminohydrolase 2 173 anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction cytoplasm dimethylargininase activity|protein binding endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 11 L-Citrulline(DB00155) GCAGAGACCGCGCAGGTGGGA 0.672000 7 39 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105420799 105420799 + Missense_Mutation SNP G G C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr10:105420799G>C ENST00000369774.4 - 8 822 c.546C>G c.(544-546)aaC>aaG p.N182K SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.N49K|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.N182K|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.N17K|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.N44K Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 182 SH3 1. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) TCAGCTCCGAGTTCTCCTGCT 0.627000 32 133 0 0 1 0 0 SLC25A3 5250 broad.mit.edu 37 12 98992445 98992445 + Missense_Mutation SNP C C T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr12:98992445C>T ENST00000188376.5 + 4 959 c.605C>T c.(604-606)gCa>gTa p.A202V SLC25A3_ENST00000228318.3_Missense_Mutation_p.A203V|SLC25A3_ENST00000552981.1_Missense_Mutation_p.A202V|SLC25A3_ENST00000551917.1_Missense_Mutation_p.A203V|SLC25A3_ENST00000549338.1_Missense_Mutation_p.A202V|SLC25A3_ENST00000548847.1_Missense_Mutation_p.A202V|SLC25A3_ENST00000401722.3_Missense_Mutation_p.A202V NM_002635.3|NM_213611.2 NP_002626.1|NP_998776.1 Q00325 MPCP_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 203 generation of precursor metabolites and energy integral to plasma membrane|mitochondrial inner membrane phosphate carrier activity|symporter activity breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1) 16 Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255) GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115) TTGAGGGATGCAGCTCCCAAA 0.388000 8 22 0 0 1 0 0 DUSP4 1846 broad.mit.edu 37 8 29207480 29207480 + Missense_Mutation SNP T T C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr8:29207480T>C ENST00000240100.2 - 1 705 c.316A>G c.(316-318)Atc>Gtc p.I106V NM_001394.6 NP_001385.1 Q13115 DUS4_HUMAN dual specificity phosphatase 4 106 Rhodanese. endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity endometrium(1)|large_intestine(1)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) TCGTAGACGATGACCGCCGAG 0.736000 4 6 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90311961 90311961 + Missense_Mutation SNP C C T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr9:90311961C>T ENST00000469640.2 + 22 2828 c.2453C>T c.(2452-2454)cCt>cTt p.P818L DAPK1_ENST00000358077.5_Missense_Mutation_p.P818L|DAPK1_ENST00000408954.3_Missense_Mutation_p.P818L|DAPK1_ENST00000491893.1_Intron|DAPK1_ENST00000472284.1_Missense_Mutation_p.P818L P53355 DAPK1_HUMAN death-associated protein kinase 1 818 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TCTGGAAATCCTGTGTATTTC 0.393000 Chronic Lymphocytic Leukemia, Familial Clustering of 12 127 0 0 1 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55284920 55284920 + Missense_Mutation SNP C C A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr19:55284920C>A ENST00000336077.6 + 3 246 c.206C>A c.(205-207)aCt>aAt p.T69N KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.T69N NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 69 Ig-like C2-type 1. immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) TTTAACGACACTTTGCGCCTC 0.517000 12 79 2.61681e-11 2.79938e-11 1 1 0 ZZEF1 23140 broad.mit.edu 37 17 4017708 4017708 + Missense_Mutation SNP T T G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:4017708T>G ENST00000381638.2 - 4 875 c.751A>C c.(751-753)Aag>Cag p.K251Q ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 251 DOC. calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GCATAGCACTTTGCTACTGAC 0.438000 23 50 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69681869 69681869 + Silent SNP A A G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr4:69681869A>G ENST00000265403.7 + 1 159 c.132A>G c.(130-132)gaA>gaG p.E44E UGT2B10_ENST00000458688.2_Silent_p.E44E NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 44 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TCCTGAAAGAACTTGTTCAGA 0.423000 4 91 0 0 1 0 0 WDR91 29062 broad.mit.edu 37 7 134878103 134878103 + Silent SNP C C T rs148472782 byFrequency TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr7:134878103C>T ENST00000354475.4 - 11 1570 c.1539G>A c.(1537-1539)tcG>tcA p.S513S WDR91_ENST00000423565.1_Silent_p.S478S|WDR91_ENST00000344400.5_Silent_p.S513S NM_014149.3 NP_054868.3 A4D1P6 WDR91_HUMAN WD repeat domain 91 513 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 GAGCTGCTGCCGAACAGACGA 0.622000 5 52 0 0 1 0 0 OR4E2 26686 broad.mit.edu 37 14 22133491 22133491 + Silent SNP T T C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr14:22133491T>C ENST00000408935.1 + 1 195 c.195T>C c.(193-195)aaT>aaC p.N65N NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TCCTGAGCAATCTGTCCTTTA 0.423000 46 201 0 0 1 0 0 MED23 9439 broad.mit.edu 37 6 131937080 131937080 + Silent SNP A A G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr6:131937080A>G ENST00000403834.3 - 10 1016 c.843T>C c.(841-843)gaT>gaC p.D281D MED23_ENST00000539158.1_Silent_p.D281D|MED23_ENST00000368068.3_Silent_p.D281D|MED23_ENST00000368058.1_Silent_p.D281D|MED23_ENST00000354577.4_Silent_p.D281D|MED23_ENST00000540546.1_Silent_p.D281D|MED23_ENST00000368053.4_Silent_p.D281D|MED23_ENST00000368060.3_Silent_p.D281D Q9ULK4 MED23_HUMAN mediator complex subunit 23 281 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) TGCAGACCATATCCCTGGAAT 0.353000 3 39 0 0 1 0 0 TARS2 80222 broad.mit.edu 37 1 150468960 150468960 + Missense_Mutation SNP C C G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr1:150468960C>G ENST00000369064.3 + 8 811 c.777C>G c.(775-777)aaC>aaG p.N259K TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000369054.2_Intron NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 259 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) TCACACAGAACTCATCATCCT 0.493000 21 143 0 0 1 0 0 CXorf58 254158 broad.mit.edu 37 X 23933851 23933851 + Missense_Mutation SNP T T C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chrX:23933851T>C ENST00000379211.3 + 4 800 c.251T>C c.(250-252)gTg>gCg p.V84A NM_001169574.1|NM_152761.2 NP_001163045.1|NP_689974.2 Q96LI9 CX058_HUMAN chromosome X open reading frame 58 84 breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14 CTGAAGAAAGTGGCCCCCTTA 0.358000 6 22 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 4 40 0 0 1 0 0 RBM22 55696 broad.mit.edu 37 5 150076186 150076186 + Missense_Mutation SNP G G A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr5:150076186G>A ENST00000199814.4 - 6 575 c.454C>T c.(454-456)Cgg>Tgg p.R152W RBM22_ENST00000540000.1_Missense_Mutation_p.R103W|RBM22_ENST00000447771.2_Missense_Mutation_p.R103W NM_018047.2 NP_060517.1 Q9NW64 RBM22_HUMAN RNA binding motif protein 22 152 protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1) 17 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTGTGGTCCGGGCCAGTTTG 0.507000 12 43 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44941192 44941192 + Missense_Mutation SNP T T C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr15:44941192T>C ENST00000261866.7 - 7 1490 c.1474A>G c.(1474-1476)Att>Gtt p.I492V SPG11_ENST00000559193.1_Missense_Mutation_p.I492V|SPG11_ENST00000558319.1_Missense_Mutation_p.I492V|SPG11_ENST00000427534.2_Missense_Mutation_p.I492V|SPG11_ENST00000535302.2_Missense_Mutation_p.I492V NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 492 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CCAAACAAAATCAGAGAGAGT 0.338000 7 17 0 0 1 0 0 C2CD2 25966 broad.mit.edu 37 21 43319241 43319241 + Silent SNP G G A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr21:43319241G>A ENST00000380486.3 - 13 2032 c.1791C>T c.(1789-1791)gtC>gtT p.V597V C2CD2_ENST00000329623.7_Silent_p.V442V NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 597 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 GGTCCAGCAGGACCTGGCTGC 0.637000 4 74 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15132166 15132166 + Splice_Site SNP G G A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr19:15132166G>A ENST00000292574.3 + 4 958 c.874_splice c.e4-1 p.A292_splice NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 292 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 CATTTGCAGCGTGCGCCTTGG 0.617000 4 31 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 4 42 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164781303 164781303 + Missense_Mutation SNP T T G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr3:164781303T>G ENST00000264382.3 - 8 896 c.834A>C c.(832-834)caA>caC p.Q278H NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 278 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAAAGAATGTTTGATGGCCGT 0.239000 HNSCC(35;0.089) 14 66 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114299424 114299424 + Missense_Mutation SNP C C G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr7:114299424C>G ENST00000408937.3 + 13 1931 c.1557C>G c.(1555-1557)aaC>aaG p.N519K FOXP2_ENST00000393489.3_Missense_Mutation_p.N402K|FOXP2_ENST00000393498.2_Missense_Mutation_p.N473K|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000393494.2_Missense_Mutation_p.N494K|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.N494K|FOXP2_ENST00000403559.4_Missense_Mutation_p.N511K NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 494 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 TTGCCCCAAACTATGAATTTT 0.274000 12 47 0 0 1 0 0 RORC 6097 broad.mit.edu 37 1 151785727 151785727 + Missense_Mutation SNP A A G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr1:151785727A>G ENST00000356728.6 - 7 1253 c.1099T>C c.(1099-1101)Ttc>Ctc p.F367L RORC_ENST00000318247.6_Missense_Mutation_p.F388L|RORC_ENST00000392697.3_Missense_Mutation_p.F442L|RORC_ENST00000480719.1_5'UTR NM_001001523.1 NP_001001523.1 P51449 RORG_HUMAN RAR-related orphan receptor C 388 Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AAGGCTCGGAACAGCTCCATG 0.562000 7 398 0 0 1 0 0 KRTAP12-2 353323 broad.mit.edu 37 21 46086466 46086466 + Missense_Mutation SNP A A G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr21:46086466A>G ENST00000360770.3 - 1 378 c.338T>C c.(337-339)gTc>gCc p.V113A TSPEAR_ENST00000323084.4_Intron NM_181684.2 NP_859012.1 P59991 KR122_HUMAN keratin associated protein 12-2 113 23 X 5 AA approximate repeats. keratin filament central_nervous_system(1)|endometrium(1)|lung(3) 5 CGCATACACGACAGGCCTGCA 0.632000 14 72 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100523393 100523393 + Missense_Mutation SNP C C A rs146761003 TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr8:100523393C>A ENST00000358544.2 + 29 4472 c.4361C>A c.(4360-4362)aCa>aAa p.T1454K VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.T1429K NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1454 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTGACATACACAAAAGCTGTA 0.378000 14 83 9.05144e-12 9.79685e-12 1 1 0 ZNF10 7556 broad.mit.edu 37 12 133732769 133732769 + Missense_Mutation SNP A A C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr12:133732769A>C ENST00000248211.6 + 5 1159 c.937A>C c.(937-939)Aag>Cag p.K313Q ZNF10_ENST00000426665.2_Missense_Mutation_p.K313Q|ZNF10_ENST00000402932.2_Missense_Mutation_p.K179Q|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TGGACATCAAAAGACCCATAC 0.418000 16 54 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8219100 8219100 + Silent SNP G G A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:8219100G>A ENST00000361926.3 + 8 1559 c.1449G>A c.(1447-1449)gtG>gtA p.V483V ARHGEF15_ENST00000421050.1_Silent_p.V483V NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 483 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 TGTCCCGTGTGCGCTCTTCCC 0.572000 3 27 0 0 1 0 0 KCNAB3 9196 broad.mit.edu 37 17 7830986 7830986 + Missense_Mutation SNP T T G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:7830986T>G ENST00000303790.2 - 3 312 c.313A>C c.(313-315)Atc>Ctc p.I105L RP11-1099M24.7_ENST00000573621.1_3'UTR NM_004732.3 NP_004723.2 O43448 KCAB3_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 3 105 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 8 Prostate(122;0.157) TCATCTGAGATCTGAGAACCA 0.493000 67 208 0 0 1 0 0 C9orf96 169436 broad.mit.edu 37 9 136269951 136269951 + Missense_Mutation SNP G G A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr9:136269951G>A ENST00000371957.3 + 17 1878 c.1771G>A c.(1771-1773)Ggc>Agc p.G591S C9orf96_ENST00000371955.1_Missense_Mutation_p.G124S NM_153710.3 NP_714921.3 Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 591 ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GGAGGAGGGCGGCAGTGGCCT 0.632000 19 91 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83847482 83847482 + Missense_Mutation SNP A A T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr6:83847482A>T ENST00000349129.2 + 21 3981 c.3721A>T c.(3721-3723)Att>Ttt p.I1241F DOPEY1_ENST00000369739.3_Missense_Mutation_p.I1232F|DOPEY1_ENST00000237163.5_Missense_Mutation_p.I1222F|DOPEY1_ENST00000484282.1_3'UTR NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1241 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CTCACCTTGTATTTCAGGAAC 0.428000 14 65 0 0 1 0 0 HNF1A 6927 broad.mit.edu 37 12 121426830 121426830 + Missense_Mutation SNP C C T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr12:121426830C>T ENST00000257555.6 + 2 747 c.521C>T c.(520-522)gCg>gTg p.A174V HNF1A_ENST00000544413.1_Missense_Mutation_p.A174V|HNF1A_ENST00000543427.1_Missense_Mutation_p.A57V|HNF1A_ENST00000402929.1_Missense_Mutation_p.A174V|HNF1A_ENST00000400024.2_Missense_Mutation_p.A174V|HNF1A_ENST00000541395.1_Missense_Mutation_p.A174V|HNF1A_ENST00000538626.1_Intron P20823 HNF1A_HUMAN HNF1 homeobox A 174 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.A174V(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CGAGAGGTGGCGCAGCGTAAG 0.612000 Hepatic Adenoma, Familial Clustering of 7 30 0 0 1 0 0 N4BP1 9683 broad.mit.edu 37 16 48594763 48594763 + Silent SNP T T C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr16:48594763T>C ENST00000262384.3 - 2 2027 c.1791A>G c.(1789-1791)cgA>cgG p.R597R RP11-44I10.3_ENST00000563994.1_RNA NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 597 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) TTAGAGTATCTCGAAACCTTT 0.428000 10 50 0 0 1 0 0 NDUFS8 4728 broad.mit.edu 37 11 67803764 67803764 + Silent SNP G G T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr11:67803764G>T ENST00000313468.5 + 6 524 c.417G>T c.(415-417)cgG>cgT p.R139R NDUFS8_ENST00000528492.1_5'UTR|NDUFS8_ENST00000526542.1_3'UTR NM_002496.3 NP_002487.1 O00217 NDUS8_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 139 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(1)|lung(5)|skin(1) 8 NADH(DB00157) GCAGCCGCCGGACCACCCGCT 0.662000 4 13 0.000602214 0.000622514 1 1 0 ARFGEF2 10564 broad.mit.edu 37 20 47580376 47580376 + Missense_Mutation SNP A A G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr20:47580376A>G ENST00000371917.4 + 7 848 c.848A>G c.(847-849)gAc>gGc p.D283G NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 283 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) GGGACTGATGACGGAGCCCAG 0.448000 5 26 0 0 1 0 0 HIRIP3 8479 broad.mit.edu 37 16 30006059 30006059 + Nonsense_Mutation SNP G G C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr16:30006059G>C ENST00000279392.3 - 4 1237 c.407C>G c.(406-408)tCa>tGa p.S136* HIRIP3_ENST00000564026.1_Intron NM_003609.4 NP_003600.2 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 136 Glu-rich. chromatin assembly or disassembly nucleus protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9) 17 AACTGCCTTTGAGGCTCGCCT 0.597000 8 110 0 0 1 0 0 FNDC7 163479 broad.mit.edu 37 1 109273432 109273432 + Silent SNP T T G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr1:109273432T>G ENST00000370017.3 + 9 2038 c.1761T>G c.(1759-1761)acT>acG p.T587T FNDC7_ENST00000271311.2_Silent_p.T588T NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 588 Fibronectin type-III 7. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) AGTGTCACACTCATCAAAACC 0.478000 12 47 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 47 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65918233 65918233 + Silent SNP T T C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr15:65918233T>C ENST00000261892.6 + 2 2102 c.1815T>C c.(1813-1815)caT>caC p.H605H SLC24A1_ENST00000399033.4_Silent_p.H605H|SLC24A1_ENST00000339868.6_Silent_p.H605H|SLC24A1_ENST00000546330.1_Silent_p.H605H|SLC24A1_ENST00000544319.2_Silent_p.H605H|SLC24A1_ENST00000537259.1_Silent_p.H605H NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 605 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GGAACAAGCATATCGAGGTCT 0.542000 6 99 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53045434 53045434 + Missense_Mutation SNP C C T TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr12:53045434C>T ENST00000309680.3 - 1 514 c.493G>A c.(493-495)Gtg>Atg p.V165M NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 165 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) TCAACTTTCACGTTGAGAGGC 0.522000 26 79 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154133231 154133231 + Missense_Mutation SNP T T C TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chrX:154133231T>C ENST00000360256.4 - 16 5641 c.5441A>G c.(5440-5442)gAt>gGt p.D1814G NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1814 F5/8 type A 3.|Plastocyanin-like 5. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTGCCTCTGATCTTCCTCATA 0.373000 7 45 0 0 1 0 0 DDHD1 80821 broad.mit.edu 37 14 53619556 53619556 + Missense_Mutation SNP C C G TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr14:53619556C>G ENST00000357758.3 - 1 444 c.261G>C c.(259-261)gaG>gaC p.E87D DDHD1_ENST00000395606.1_Missense_Mutation_p.E87D|DDHD1_ENST00000323669.5_Missense_Mutation_p.E87D NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 87 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) AGTCATAGTTCTCGTCACTGA 0.706000 3 26 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751332 19751332 + Missense_Mutation SNP C C A TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr13:19751332C>A ENST00000400113.3 - 4 895 c.791G>T c.(790-792)cGc>cTc p.R264L NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 264 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.R264H(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GAAGTGGATGCGGGGGTACGG 0.612000 29 48 7.11191e-15 7.78923e-15 1 1 0 PRDM16 63976 broad.mit.edu 37 1 3313064 3313064 + Frame_Shift_Del DEL A A - TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr1:3313064delA ENST00000378398.3 + 6 668 c.586delA c.(586-588)aafs p.K196fs PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Frame_Shift_Del_p.K195fs|PRDM16_ENST00000441472.2_Frame_Shift_Del_p.K195fs|PRDM16_ENST00000514189.1_Frame_Shift_Del_p.K196fs|PRDM16_ENST00000511072.1_Frame_Shift_Del_p.K196fs|PRDM16_ENST00000378391.2_Frame_Shift_Del_p.K195fs|PRDM16_ENST00000270722.5_Frame_Shift_Del_p.K195fs Q9HAZ2 PRD16_HUMAN PR domain containing 16 195 SET. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GATTTACTATAAAGTCATTAA 0.557 T EVI1 """MDS, AML""" 2 4 --- --- --- --- TAF1B 9014 broad.mit.edu 37 2 9989571 9989571 + Frame_Shift_Del DEL A A - TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr2:9989571delA ENST00000263663.5 + 3 375 c.187delA c.(187-189)aafs p.K65fs TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR NM_005680.2 NP_005671.2 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 65 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CCGGGGGCTTAAAAAAAAAAA 0.333 4 8 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 2 4 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396277 + RNA DEL G G - rs148140777 by1000genomes TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr10:118396277delG ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTT 0.423 3 4 --- --- --- --- LOC102723841 102723841 broad.mit.edu 37 16 33365420 33365420 + RNA DEL A A - TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr16:33365420delA ENST00000568520.1 - 0 249 TACAAACTATAAAAAAACAGA 0.358 3 6 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29628226 29628226 + Splice_Site DEL G G - rs78710112 by1000genomes TCGA-EB-A4OY-01A-11D-A25O-08 TCGA-EB-A4OY-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx F787897A-2061-4022-A72D-6264896E6D62 625EE15D-0BAE-44E7-8F70-669DA183CEAA g.chr20:29628226delG ENST00000278882.3 + 6 608 c.e6-1 FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTTCACTTAGGGGAAAATGG 0.358 7 127 --- --- --- ---