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 PRMT5 10419 broad.mit.edu 37 14 23395463 23395463 + Missense_Mutation SNP T T G TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr14:23395463T>G ENST00000324366.8 - 7 879 c.656A>C c.(655-657)gAt>gCt p.D219A PRMT5-AS1_ENST00000599580.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.D113A|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.D175A|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000397441.2_Missense_Mutation_p.D202A|PRMT5_ENST00000216350.8_Missense_Mutation_p.D158A NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 219 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 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) AAGCCAGCGATCAATGACATG 0.478000 4 84 0 0 1 0 0 TMEM40 55287 broad.mit.edu 37 3 12783983 12783983 + Missense_Mutation SNP C C T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr3:12783983C>T ENST00000314124.7 - 5 681 c.325G>A c.(325-327)Gtt>Att p.V109I TMEM40_ENST00000435575.1_Missense_Mutation_p.V33I|TMEM40_ENST00000435218.2_Missense_Mutation_p.V79I|TMEM40_ENST00000431022.2_Missense_Mutation_p.V125I|TMEM40_ENST00000264728.8_Missense_Mutation_p.V109I NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 109 integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 TCCTTCAAAACGTCAGGCTCC 0.512000 5 107 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137721798 137721798 + Missense_Mutation SNP G G T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr5:137721798G>T ENST00000314358.5 + 7 1068 c.868G>T c.(868-870)Gct>Tct p.A290S NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 290 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GAGGAAAAGTGCTTCGGACTC 0.483000 4 76 0.150653 0.153443 1 1 0 RGAG1 57529 broad.mit.edu 37 X 109695424 109695424 + Missense_Mutation SNP C C A TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chrX:109695424C>A ENST00000465301.2 + 3 1825 c.1579C>A c.(1579-1581)Caa>Aaa p.Q527K RGAG1_ENST00000540313.1_Missense_Mutation_p.Q527K NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 527 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 GTCCATGCCACAATTGACAGT 0.522000 5 229 8.12818e-05 8.59712e-05 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62301031 62301031 + Silent SNP A A G TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr11:62301031A>G ENST00000378024.4 - 5 1132 c.858T>C c.(856-858)ggT>ggC p.G286G AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 286 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CTACTGCCCTACCCCCAAGAG 0.517000 32 60 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151845755 151845755 + Silent SNP T T C TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr7:151845755T>C ENST00000355193.2 - 53 13646 c.13428A>G c.(13426-13428)ctA>ctG p.L4476L KMT2C_ENST00000262189.6_Silent_p.L4419L lysine (K)-specific methyltransferase 2C CAAGGTTGAGTAGCCTTGCTG 0.493000 30 50 0 0 1 0 0 ELF4 2000 broad.mit.edu 37 X 129203477 129203477 + Nonsense_Mutation SNP G G A TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chrX:129203477G>A ENST00000308167.5 - 8 1364 c.985C>T c.(985-987)Cga>Tga p.R329* ELF4_ENST00000335997.7_Nonsense_Mutation_p.R329* NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 329 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 GAGCTGGTTCGCCGGGTGGTA 0.612000 T ERG AML 7 124 0 0 1 0 0 PTPN7 5778 broad.mit.edu 37 1 202124738 202124738 + Splice_Site SNP C C T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr1:202124738C>T ENST00000309017.3 - 5 1480 c.e5-1 PTPN7_ENST00000492977.1_Splice_Site|PTPN7_ENST00000367279.4_Splice_Site|PTPN7_ENST00000543735.1_Splice_Site|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Splice_Site NM_001199797.1|NM_002832.3 NP_001186726.1|NP_002823.3 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity p.?(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 CTCTGGGGATCTAGGAAATAA 0.527000 4 39 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95035850 95035850 + Missense_Mutation SNP G G A TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr14:95035850G>A ENST00000557004.1 + 5 1623 c.1202G>A c.(1201-1203)cGg>cAg p.R401Q SERPINA4_ENST00000298841.5_Missense_Mutation_p.R401Q|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R401Q P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 401 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CGATTCAACCGGCCCTTCCTT 0.587000 8 69 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75260418 75260418 + Missense_Mutation SNP A A G TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr10:75260418A>G ENST00000339859.4 - 22 4590 c.4490T>C c.(4489-4491)cTc>cCc p.L1497P RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.L1497P|USP54_ENST00000428547.1_Missense_Mutation_p.L1347P|USP54_ENST00000422491.2_Missense_Mutation_p.L632P|RP11-137L10.6_ENST00000442133.3_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.L538P|RP11-137L10.6_ENST00000593790.1_RNA Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1497 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) GTTACCTGGGAGTCTATTGGG 0.522000 16 52 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10970009 10970009 + Splice_Site SNP C C G TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr21:10970009C>G ENST00000298232.7 - 6 486 c.119_splice c.e6+1 p.S40_splice TPTE_ENST00000361285.4_Splice_Site_p.S40_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S40_splice NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 40 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TATTGCTCACCTTTCTTTCGC 0.438000 15 92 0 0 1 0 0 CPSF3 51692 broad.mit.edu 37 2 9607904 9607904 + Splice_Site SNP C C T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr2:9607904C>T ENST00000460593.1 + 16 2882 c.1745_splice c.e16+1 p.Q582_splice CPSF3_ENST00000489403.1_3'UTR|CPSF3_ENST00000238112.3_Splice_Site_p.Q619_splice Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 619 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) GATCATGCTCCAGTAAGTTTT 0.468000 5 56 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27877971 27877971 + Missense_Mutation SNP G G A TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr1:27877971G>A ENST00000374011.2 - 6 1624 c.656C>T c.(655-657)aCg>aTg p.T219M AHDC1_ENST00000247087.5_Missense_Mutation_p.T219M|AHDC1_ENST00000482400.2_5'UTR NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 219 Pro-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GGCCGCAGCCGTGGCTCCGGG 0.652000 26 11 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 26 0 0 1 0 0 RANBP6 26953 broad.mit.edu 37 9 6012658 6012658 + Missense_Mutation SNP T T G TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr9:6012658T>G ENST00000259569.5 - 1 2960 c.2950A>C c.(2950-2952)Ata>Cta p.I984L NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 984 protein transport cytoplasm|nucleus binding p.I984L(4) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) ATCTTCCCTATTGCTGAGATA 0.363000 3 78 0 0 1 0 0 RABEP1 9135 broad.mit.edu 37 17 5250214 5250214 + Missense_Mutation SNP C C A TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr17:5250214C>A ENST00000262477.6 + 6 1002 c.778C>A c.(778-780)Cat>Aat p.H260N RABEP1_ENST00000546142.2_Missense_Mutation_p.H260N|RABEP1_ENST00000537505.1_Missense_Mutation_p.H217N|RABEP1_ENST00000408982.2_Missense_Mutation_p.H260N|RABEP1_ENST00000341923.6_Missense_Mutation_p.H260N NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 260 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 GAAAGAATTGCATGAAGGTAA 0.308000 3 47 0.00909568 0.00943891 1 1 0 LARP4 113251 broad.mit.edu 37 12 50860853 50860853 + Missense_Mutation SNP G G A TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr12:50860853G>A ENST00000398473.2 + 13 1607 c.1495G>A c.(1495-1497)Gtt>Att p.V499I LARP4_ENST00000429001.3_Missense_Mutation_p.V505I|LARP4_ENST00000293618.8_Missense_Mutation_p.V428I|LARP4_ENST00000347328.5_Missense_Mutation_p.V428I|LARP4_ENST00000518444.1_Missense_Mutation_p.V498I NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 499 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 AGGTGAACTCGTTTTGGAGAA 0.393000 4 60 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791757 42791757 + Missense_Mutation SNP C C T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr19:42791757C>T ENST00000572681.2 + 6 3438 c.3370C>T c.(3370-3372)Cgg>Tgg p.R1124W CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W Q96RK0 CIC_HUMAN capicua transcriptional repressor 215 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R215W(4) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CAAGCGGCACCGGGCCCTGGT 0.612000 """Mis, F, S""" oligodendroglioma 15 19 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255062 155255062 + RNA SNP C C G TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chrX:155255062C>G ENST00000285718.7 + 0 1367 WASH6P_ENST00000461007.1_RNA CACCTTCCCCCCCAGACCCAG 0.627000 3 30 0 0 1 0 0 DDX24 57062 broad.mit.edu 37 14 94545908 94545908 + Missense_Mutation SNP G G A TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr14:94545908G>A ENST00000330836.5 - 2 312 c.181C>T c.(181-183)Cct>Tct p.P61S DDX24_ENST00000555054.1_Missense_Mutation_p.P18S|DDX24_ENST00000544005.1_Intron NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 61 RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) TTCTTGGCAGGGGAGACCAAC 0.468000 5 148 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135383017 135383017 + Missense_Mutation SNP G G A TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr5:135383017G>A ENST00000442011.2 + 6 840 c.679G>A c.(679-681)Ggg>Agg p.G227R TGFBI_ENST00000305126.8_Missense_Mutation_p.G227R NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 227 FAS1 1. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGCAACCAACGGGGTGGTGCA 0.532000 4 152 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 26 70 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104638942 104638942 + Missense_Mutation SNP G G A TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr14:104638942G>A ENST00000315264.7 + 6 1318 c.940G>A c.(940-942)Gtg>Atg p.V314M KIF26A_ENST00000423312.2_Missense_Mutation_p.V453M Q9ULI4 KI26A_HUMAN kinesin family member 26A 453 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CGTGGCCGACGTGCTCCAGTC 0.642000 4 63 0 0 1 0 0 BMX 660 broad.mit.edu 37 X 15561245 15561245 + Missense_Mutation SNP T T A TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chrX:15561245T>A ENST00000357607.2 + 16 1851 c.1663T>A c.(1663-1665)Ttt>Att p.F555I BMX_ENST00000348343.6_Missense_Mutation_p.F555I|BMX_ENST00000342014.6_Missense_Mutation_p.F555I P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 555 Protein kinase. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) AGTATCTGACTTTGGAATGAC 0.418000 31 115 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 4 129 0 0 1 0 0 LRRN4CL 221091 broad.mit.edu 37 11 62455807 62455807 + Silent SNP C C T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr11:62455807C>T ENST00000317449.4 - 2 651 c.174G>A c.(172-174)gtG>gtA p.V58V NM_203422.2 NP_981967.1 Q8ND94 LRN4L_HUMAN LRRN4 C-terminal like 58 integral to membrane cervix(1)|kidney(1) 2 CCTTGCAGGGCACCTGCAGGT 0.682000 7 24 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78430433 78430433 + Splice_Site SNP C C T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr1:78430433C>T ENST00000370767.1 - 10 823 c.e10-1 FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370768.2_Splice_Site Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 CCTTGGCTTGCTAAAGCAGAA 0.373000 """F, N""" oligodendroglioma 10 54 0 0 1 0 0 CRISP1 167 broad.mit.edu 37 6 49814267 49814267 + Missense_Mutation SNP G G A rs139194307 byFrequency TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr6:49814267G>A ENST00000335847.4 - 5 502 c.401C>T c.(400-402)aCg>aTg p.T134M CRISP1_ENST00000507853.1_Missense_Mutation_p.T134M|CRISP1_ENST00000355791.2_Missense_Mutation_p.T134M|CRISP1_ENST00000536021.1_Missense_Mutation_p.T134M|CRISP1_ENST00000505118.1_Missense_Mutation_p.T134M|CRISP1_ENST00000329411.5_Missense_Mutation_p.T134M NM_001131.2 NP_001122.2 P54107 CRIS1_HUMAN cysteine-rich secretory protein 1 134 fusion of sperm to egg plasma membrane extracellular space endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) GTCATCATCCGTTGTTGTCCA 0.398000 4 86 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49031241 49031241 + Silent SNP C C T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr15:49031241C>T ENST00000380950.2 - 27 4525 c.4338G>A c.(4336-4338)ggG>ggA p.G1446G CEP152_ENST00000399334.3_Silent_p.G1390G NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1390 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) AACTACCATCCCCAAACTGGA 0.448000 11 115 0 0 1 0 0 RP11-812E19.9 0 broad.mit.edu 37 16 33647320 33647320 + Missense_Mutation SNP C C T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr16:33647320C>T ENST00000558425.1 - 2 279 c.280G>A c.(280-282)Gcc>Acc p.A94T GAGTTATTGGCGTTGTCCCTG 0.498000 55 182 0 0 1 0 0 AASDH 132949 broad.mit.edu 37 4 57221383 57221383 + Silent SNP A A G TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr4:57221383A>G ENST00000205214.6 - 6 1248 c.1068T>C c.(1066-1068)taT>taC p.Y356Y AASDH_ENST00000513376.1_Silent_p.Y256Y|AASDH_ENST00000502617.1_Silent_p.Y356Y|AASDH_ENST00000602986.1_Silent_p.Y203Y|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000451613.1_Silent_p.Y356Y NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 356 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) CTGGAATCCTATAAATGGTCG 0.368000 9 68 0 0 1 0 0 NTN1 9423 broad.mit.edu 37 17 9083253 9083253 + Missense_Mutation SNP C C T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr17:9083253C>T ENST00000173229.2 + 4 1444 c.1337C>T c.(1336-1338)tCt>tTt p.S446F NTN1_ENST00000546090.1_Missense_Mutation_p.S446F|NTN1_ENST00000538852.1_Missense_Mutation_p.S446F NM_004822.2 NP_004813.2 O95631 NET1_HUMAN netrin 1 446 Laminin EGF-like 3. apoptosis|axon guidance protein binding NTN1/ACLY(2) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5) 13 CAGAGCCGCTCTCCCATCGCC 0.582000 5 52 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99697242 99697242 + Silent SNP T T C TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr7:99697242T>C ENST00000303887.5 - 3 891 c.246A>G c.(244-246)caA>caG p.Q82Q MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Silent_p.Q82Q NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 82 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) GCAGCAGCTCTTGTACGGCAT 0.532000 43 69 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158454620 158454620 + Missense_Mutation SNP T T C TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr6:158454620T>C ENST00000355585.4 + 4 694 c.619T>C c.(619-621)Tct>Cct p.S207P SYNJ2_ENST00000449859.2_Missense_Mutation_p.S156P|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S207P|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S207P NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 207 SAC. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CTGCCTCGTCTCTCGCGTTAG 0.622000 4 53 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5039171 5039171 + Silent SNP C C T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr17:5039171C>T ENST00000574788.1 + 17 2842 c.612C>T c.(610-612)gaC>gaT p.D204D USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Silent_p.D204D|USP6_ENST00000332776.4_Silent_p.D204D P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 204 Rab-GAP TBC. protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CTGAGGAGGACGCATTCTGGG 0.617000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 6 66 0 0 1 0 0 PM20D1 148811 broad.mit.edu 37 1 205819111 205819111 + Missense_Mutation SNP G G T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr1:205819111G>T ENST00000367136.4 - 1 134 c.90C>A c.(88-90)agC>agA p.S30R PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 30 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GATGCTCCCCGCTCCTCGGGC 0.602000 4 77 0.184627 0.184627 1 1 0 TTN 7273 broad.mit.edu 37 2 179429186 179429186 + Missense_Mutation SNP C C T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr2:179429186C>T ENST00000589042.1 - 326 81897 c.81673G>A c.(81673-81675)Gta>Ata p.V27225I TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V18160I|TTN_ENST00000342992.6_Missense_Mutation_p.V24657I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18285I|TTN_ENST00000591111.1_Missense_Mutation_p.V25584I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18352I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25584 Fibronectin type-III 98. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V18160I(1)|p.V24657I(1)|p.V18352I(1)|p.V18285I(1)|p.V24655I(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTTCTAATACGTTGGTAAAG 0.383000 3 23 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145327548 145327548 + Missense_Mutation SNP A A G TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr1:145327548A>G ENST00000342960.5 + 32 4140 c.4105A>G c.(4105-4107)Aat>Gat p.N1369D NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1369 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GGACTCACTGAATAGATGTTA 0.473000 3 15 0 0 1 0 0 EFHC2 80258 broad.mit.edu 37 X 44109649 44109649 + Missense_Mutation SNP C C G TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chrX:44109649C>G ENST00000420999.1 - 5 732 c.649G>C c.(649-651)Gac>Cac p.D217H NM_025184.3 NP_079460.2 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 217 calcium ion binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 TTCAGGGTGTCGAGGGATTCG 0.438000 6 33 0 0 1 0 0 RNF19A 25897 broad.mit.edu 37 8 101287223 101287223 + Missense_Mutation SNP G G A TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr8:101287223G>A ENST00000519449.1 - 4 1157 c.841C>T c.(841-843)Cgt>Tgt p.R281C RNF19A_ENST00000341084.2_Missense_Mutation_p.R281C NM_015435.3 NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 281 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) GATGAAGAACGTATAGTTCTC 0.378000 46 79 0 0 1 0 0 TMEM40 55287 broad.mit.edu 37 3 12790221 12790221 + Missense_Mutation SNP G G T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr3:12790221G>T ENST00000314124.7 - 3 500 c.144C>A c.(142-144)aaC>aaA p.N48K TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_Missense_Mutation_p.N48K|TMEM40_ENST00000431022.2_Missense_Mutation_p.N64K|TMEM40_ENST00000264728.8_Missense_Mutation_p.N48K NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 48 integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 aagaagaCTTGTTTCTCTCAT 0.448000 47 124 3.76525e-18 4.14177e-18 1 1 0 FUBP1 8880 broad.mit.edu 37 1 78430905 78430906 + Frame_Shift_Ins INS - - T TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr1:78430905_78430906insT ENST00000370767.1 - 8 570_571 c.483_484insA c.(481-486)aaggttfs p.V162fs FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.V162fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.V183fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 162 KH 1. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 TCCAGTAACCGTTTTGCTGACC 0.381 """F, N""" oligodendroglioma 8 75 --- --- --- --- RBM27 54439 broad.mit.edu 37 5 145610427 145610427 + Frame_Shift_Del DEL C C - TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr5:145610427delC ENST00000265271.5 + 6 963 c.797delC c.(796-798)tcfs p.S266fs RBM27_ENST00000506502.1_Frame_Shift_Del_p.S266fs NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 266 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATAGCTCTTCCAATTCTTTT 0.423 20 80 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149518533 149518533 + RNA DEL C C - rs11353848 TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr7:149518533delC ENST00000378016.2 + 0 12602 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGGAGCAGTCCCAGAGCCAG 0.711 6 4 --- --- --- --- ZNF334 55713 broad.mit.edu 37 20 45131690 45131691 + Frame_Shift_Del DEL AT AT - TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr20:45131690_45131691delAT ENST00000457685.2 - 6 1496_1497 c.173_174delAT c.(172-174)cfs p.H58fs ZNF334_ENST00000593880.1_Frame_Shift_Del_p.H119fs|ZNF334_ENST00000347606.4_Frame_Shift_Del_p.H96fs Q9HCZ1 ZN334_HUMAN zinc finger protein 334 96 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) TTTGTGTCAAATGTTTATCTTG 0.351 27 33 --- --- --- --- U2AF1 7307 broad.mit.edu 37 21 44514659 44514661 + In_Frame_Del DEL CCT CCT - TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chr21:44514659_44514661delCCT ENST00000459639.1 - 6 1300_1302 c.276_278delAGG c.(274-279)cgc>cg p.RG92del U2AF1_ENST00000398137.1_In_Frame_Del_p.RG92del|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000291552.4_In_Frame_Del_p.RG165del|U2AF1_ENST00000380276.2_In_Frame_Del_p.RG165del Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 165 RRM. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 126 GCAGAAGCCGCCTCGTGTGCATT 0.571 Mis """CLL, MDS""" 8 63 --- --- --- --- ALG13 79868 broad.mit.edu 37 X 110988026 110988026 + Frame_Shift_Del DEL T T - TCGA-S9-A7J3-01A-21D-A34J-08 TCGA-S9-A7J3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8532359d-7b4d-4556-afdf-2885c7604b66 d3de3deb-2955-44a3-853f-56f22803d4a2 g.chrX:110988026delT ENST00000394780.3 + 24 2838 c.2826delT c.(2824-2826)ccfs p.P945fs ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Intron NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 945 Pro-rich. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 ctcctcctcctcctcctcctg 0.572 2 4 --- --- --- ---