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 SSX5 6758 broad.mit.edu 37 X 48053622 48053622 + Missense_Mutation SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chrX:48053622G>A ENST00000311798.1 - 5 398 c.346C>T c.(346-348)Cgg>Tgg p.R116W SSX5_ENST00000347757.1_Missense_Mutation_p.R75W|SSX5_ENST00000376923.1_Missense_Mutation_p.R75W NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 TCTGCGACCCGTTTATTACGC 0.488000 5 206 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + Silent SNP C C T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr1:153907309C>T ENST00000361217.4 - 18 3118 c.2700G>A c.(2698-2700)caG>caA p.Q900Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. p.Q788Q(1)|p.Q900Q(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.642000 4 67 0 0 1 0 0 STAT5B 6777 broad.mit.edu 37 17 40384082 40384082 + Missense_Mutation SNP A A T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr17:40384082A>T ENST00000293328.3 - 2 232 c.64T>A c.(64-66)Tat>Aat p.Y22N NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 22 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TGCTGGCCATATAACGCTTGC 0.443000 5 98 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47958147 47958147 + Silent SNP C C T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr3:47958147C>T ENST00000426837.2 - 8 1308 c.1221G>A c.(1219-1221)ttG>ttA p.L407L MAP4_ENST00000395734.3_Silent_p.L390L|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Silent_p.L390L P27816 MAP4_HUMAN microtubule-associated protein 4 390 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.L390L(2) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGGAAGGAGCCAAGTCCATTT 0.448000 3 117 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 3 111 0 0 1 0 0 TSPAN33 340348 broad.mit.edu 37 7 128804343 128804343 + Missense_Mutation SNP A A G TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr7:128804343A>G ENST00000289407.4 + 5 501 c.392A>G c.(391-393)aAc>aGc p.N131S NM_178562.3 NP_848657.1 Q86UF1 TSN33_HUMAN tetraspanin 33 131 integral to membrane NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 GAGATCATCAACAATGCCATT 0.493000 OREG0018304 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 120 168 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 4 168 0 0 1 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166657 180166657 + Silent SNP G G T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr5:180166657G>T ENST00000307832.2 - 1 442 c.402C>A c.(400-402)gcC>gcA p.A134A NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGTGCATGATGGCCATGTAGT 0.587000 3 64 1 1 1 1 0 GUCY1A3 2982 broad.mit.edu 37 4 156631972 156631972 + Missense_Mutation SNP A A G TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr4:156631972A>G ENST00000296518.7 + 6 864 c.655A>G c.(655-657)Ata>Gta p.I219V GUCY1A3_ENST00000455639.2_Missense_Mutation_p.I219V|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000393832.3_5'UTR Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 219 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TCCCGGCATCATAAAGGCAGC 0.458000 38 84 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 6 151 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139724493 139724493 + Missense_Mutation SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr7:139724493G>A ENST00000263549.3 - 12 2846 c.1973C>T c.(1972-1974)cCc>cTc p.P658L NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 658 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) AAAGATGGAGGGGTCGGACAC 0.577000 5 184 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412245 139412245 + Missense_Mutation SNP C C A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr9:139412245C>A ENST00000277541.6 - 8 1475 c.1400G>T c.(1399-1401)tGc>tTc p.C467F NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 467 EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CTGGTCCAGGCAGGTGGCGTC 0.677000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 5 104 0.217242 0.223927 1 1 0 DDX3X 1654 broad.mit.edu 37 X 41202025 41202025 + Missense_Mutation SNP T T C TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chrX:41202025T>C ENST00000399959.2 + 6 1334 c.479T>C c.(478-480)tTt>tCt p.F160S DDX3X_ENST00000542215.1_Missense_Mutation_p.F204S|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.F144S NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 160 interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 GGGATTAATTTTGAGAAATAC 0.368000 HNSCC(61;0.18) 6 92 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35966455 35966455 + Missense_Mutation SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chrX:35966455G>A ENST00000297866.5 + 4 608 c.542G>A c.(541-543)gGc>gAc p.G181D NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 181 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GAATACCACGGCCAATTACCC 0.413000 60 116 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25428134 25428134 + Silent SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr13:25428134G>A ENST00000255324.5 + 25 3514 c.3462G>A c.(3460-3462)caG>caA p.Q1154Q RNF17_ENST00000381921.1_Silent_p.Q1154Q|RNF17_ENST00000339524.3_Silent_p.Q206Q NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1154 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TCAGTGAACAGAAAGTGTCTG 0.403000 26 34 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64394227 64394227 + Nonsense_Mutation SNP C C T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr6:64394227C>T ENST00000262043.3 + 4 944 c.604C>T c.(604-606)Cga>Tga p.R202* PHF3_ENST00000393387.1_Nonsense_Mutation_p.R202*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.R202* Q92576 PHF3_HUMAN PHD finger protein 3 202 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAGGTGCAGCCGAAATAGCGG 0.403000 34 75 0 0 1 0 0 PCDHB17 0 broad.mit.edu 37 5 140537004 140537004 + Silent SNP C C T rs246697 TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr5:140537004C>T ENST00000539533.1 + 1 1428 c.1428C>T c.(1426-1428)gcC>gcT p.A476A GTGTCAGCGCCACAGACAGAG 0.642000 4 250 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chrX:37027156C>G ENST00000358047.3 + 1 725 c.673C>G c.(673-675)Cag>Gag p.Q225E NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 225 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 TCTCCGCCCACAGCCTCCCAA 0.647000 4 89 0 0 1 0 0 ARNTL 406 broad.mit.edu 37 11 13402768 13402768 + Silent SNP T T C TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr11:13402768T>C ENST00000401424.1 + 18 1981 c.1455T>C c.(1453-1455)ccT>ccC p.P485P ARNTL_ENST00000389707.4_Silent_p.P527P|ARNTL_ENST00000396441.3_Silent_p.P527P|ARNTL_ENST00000403290.1_Silent_p.P528P|ARNTL_ENST00000403510.3_Silent_p.P484P|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000403482.3_Silent_p.P526P|ARNTL_ENST00000361003.4_Silent_p.P410P NM_001030273.1 NP_001025444.1 O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear translocator-like 528 circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1) 20 Epithelial(150;0.0243) CGAGTACGCCTCCCCCTGATG 0.488000 3 152 0 0 1 0 0 DPY19L1 23333 broad.mit.edu 37 7 34977700 34977700 + Missense_Mutation SNP T T A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr7:34977700T>A ENST00000310974.4 - 21 1921 c.1777A>T c.(1777-1779)Agt>Tgt p.S593C NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) 593 integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 GCTTTCCGACTATACATTGAG 0.328000 18 17 0 0 1 0 0 BIRC8 112401 broad.mit.edu 37 19 53793157 53793157 + Silent SNP C C T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr19:53793157C>T ENST00000426466.1 - 1 1718 c.471G>A c.(469-471)caG>caA p.Q157Q NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 157 apoptosis zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) TAGTGTCTTTCTGAGCGCTCA 0.408000 3 52 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47958144 47958144 + Silent SNP A A G TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr3:47958144A>G ENST00000426837.2 - 8 1311 c.1224T>C c.(1222-1224)gcT>gcC p.A408A MAP4_ENST00000395734.3_Silent_p.A391A|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Silent_p.A391A P27816 MAP4_HUMAN microtubule-associated protein 4 391 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.A391A(2) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) CCTTGGAAGGAGCCAAGTCCA 0.443000 3 119 0 0 1 0 0 DBX2 440097 broad.mit.edu 37 12 45410365 45410365 + Missense_Mutation SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr12:45410365G>A ENST00000332700.6 - 4 895 c.724C>T c.(724-726)Cgg>Tgg p.R242W NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 242 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) TTGGAATTCCGCCATTTCATC 0.403000 13 140 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111898484 111898484 + Missense_Mutation SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr3:111898484G>A ENST00000305815.5 - 23 3065 c.2813C>T c.(2812-2814)cCg>cTg p.P938L SLC9C1_ENST00000487372.1_Missense_Mutation_p.P890L NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 938 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity GTCAATTATCGGAAAATCTTT 0.358000 4 43 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152807342 152807342 + Missense_Mutation SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chrX:152807342G>A ENST00000370186.1 + 4 948 c.622G>A c.(622-624)Gtg>Atg p.V208M ATP2B3_ENST00000359149.3_Missense_Mutation_p.V208M|ATP2B3_ENST00000349466.2_Missense_Mutation_p.V208M|ATP2B3_ENST00000370181.2_Missense_Mutation_p.V208M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.V208M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.V208M Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 208 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCAGGTCCCCGTGGCTGCGCT 0.622000 6 147 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122598965 122598965 + Splice_Site SNP T T A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chrX:122598965T>A ENST00000264357.5 + 13 2616 c.e13+2 GRIA3_ENST00000371251.1_Splice_Site|GRIA3_ENST00000542149.1_Splice_Site|GRIA3_ENST00000371256.5_Splice_Site|AL356213.1_ENST00000577653.1_RNA NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) AGCATTAAGGTGGGTGGAATA 0.393000 8 109 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5727283 5727283 + Missense_Mutation SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr19:5727283G>A ENST00000381624.3 + 3 192 c.131G>A c.(130-132)cGc>cAc p.R44H CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 44 integral to membrane CTCTAGGACCGCCTGTATTTT 0.338000 6 79 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187275 12187275 + Missense_Mutation SNP G G C TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr19:12187275G>C ENST00000439326.3 + 4 1515 c.1340G>C c.(1339-1341)cGt>cCt p.R447P ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R447P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCGTATGAGTGTA 0.433000 3 63 0 0 1 0 0 NR1H3 10062 broad.mit.edu 37 11 47281984 47281984 + Missense_Mutation SNP A A G TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr11:47281984A>G ENST00000467728.1 + 3 1495 c.257A>G c.(256-258)aAg>aGg p.K86R NR1H3_ENST00000407404.1_Missense_Mutation_p.K86R|NR1H3_ENST00000441012.2_Missense_Mutation_p.K86R|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000481889.2_Missense_Mutation_p.K41R|NR1H3_ENST00000405853.3_Missense_Mutation_p.K86R|NR1H3_ENST00000527949.1_5'UTR|NR1H3_ENST00000395397.3_Missense_Mutation_p.K41R|NR1H3_ENST00000405576.1_Missense_Mutation_p.K41R Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 86 apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5) 20 AAGCGGAAAAAGGGGCCAGCC 0.567000 4 103 0 0 1 0 0 LOXL4 84171 broad.mit.edu 37 10 100012144 100012144 + Silent SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr10:100012144G>A ENST00000260702.3 - 12 2067 c.1917C>T c.(1915-1917)gcC>gcT p.A639A RP11-34A14.3_ENST00000433374.1_RNA NM_032211.6 NP_115587.6 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 639 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) GACAGAAGCTGGCCTTGTGCC 0.532000 22 203 0 0 1 0 0 PCF11 51585 broad.mit.edu 37 11 82877743 82877743 + Missense_Mutation SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr11:82877743G>A ENST00000298281.4 + 5 2256 c.1804G>A c.(1804-1806)Gaa>Aaa p.E602K NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 602 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 ATCTGGTTGGGAAGAAAATAA 0.318000 27 46 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50534698 50534698 + Missense_Mutation SNP C C T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr15:50534698C>T ENST00000267845.3 - 12 2150 c.1748G>A c.(1747-1749)cGc>cAc p.R583H HDC_ENST00000543581.1_Missense_Mutation_p.R550H NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 583 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity p.R583L(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) ACTGAGGGAGCGCACCGTCTT 0.542000 91 173 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7683487 7683487 + Missense_Mutation SNP G G A rs147216751 TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr17:7683487G>A ENST00000572933.1 + 37 7195 c.5735G>A c.(5734-5736)cGc>cAc p.R1912H DNAH2_ENST00000389173.2_Missense_Mutation_p.R1912H Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1912 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TATGCTGGCCGCACAGAGCTT 0.463000 4 271 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180338435 180338435 + Missense_Mutation SNP C C T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr5:180338435C>T ENST00000231229.4 + 3 728 c.494C>T c.(493-495)gCg>gTg p.A165V BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000508408.1_Missense_Mutation_p.A165V|BTNL8_ENST00000340184.4_Missense_Mutation_p.A165V|BTNL8_ENST00000511704.1_Missense_Mutation_p.A49V|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.A40V NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 165 Ig-like V-type 2. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGCCCACAGCGAAGTGGAAA 0.537000 14 268 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 32 74 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118390456 118390456 + Missense_Mutation SNP A A G TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr11:118390456A>G ENST00000534358.1 + 32 11293 c.11270A>G c.(11269-11271)aAt>aGt p.N3757S KMT2A_ENST00000354520.4_Missense_Mutation_p.N3716S|KMT2A_ENST00000389506.5_Missense_Mutation_p.N3754S|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A p.N3757S(1)|p.N3754S(1) GAGGAGGCCAATGAACCCCCC 0.507000 4 116 0 0 1 0 0 RBM4B 83759 broad.mit.edu 37 11 66436387 66436387 + Missense_Mutation SNP A A G TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr11:66436387A>G ENST00000525754.1 - 2 1456 c.788T>C c.(787-789)cTc>cCc p.L263P RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000310046.4_Missense_Mutation_p.L263P Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 263 Interaction with TNPO3 (By similarity). circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2) 10 AGTAGAGTTGAGGTGGCTGGT 0.562000 3 141 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131521709 131521709 + Silent SNP C C T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr2:131521709C>T ENST00000423981.1 + 2 2174 c.2064C>T c.(2062-2064)aaC>aaT p.N688N AMER3_ENST00000321420.4_Silent_p.N688N NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 TCAGCTCAAACGAACAGCCCC 0.652000 10 6 0 0 1 0 0 CLDN16 10686 broad.mit.edu 37 3 190120187 190120187 + Missense_Mutation SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr3:190120187G>A ENST00000264734.2 + 2 634 c.386G>A c.(385-387)cGc>cAc p.R129H CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 129 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) GATGGGATTCGCACCTGTGAT 0.488000 21 161 0 0 1 0 0 GGT6 124975 broad.mit.edu 37 17 4463042 4463042 + Missense_Mutation SNP C C T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr17:4463042C>T ENST00000301395.3 - 2 213 c.154G>A c.(154-156)Ggg>Agg p.G52R GGT6_ENST00000381550.3_Missense_Mutation_p.G52R|GGT6_ENST00000573591.1_5'UTR|GGT6_ENST00000574154.1_Missense_Mutation_p.G52R NM_153338.2 NP_699169.2 Q6P531 GGT6_HUMAN gamma-glutamyltransferase 6 52 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity p.G52W(1) endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 CCGGGCAGCCCGCCAGCCTTG 0.652000 7 41 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 114 0 0 1 0 0 TBXAS1 6916 broad.mit.edu 37 7 139529240 139529240 + Silent SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr7:139529240G>A ENST00000263552.6 + 5 592 c.54G>A c.(52-54)acG>acA p.T18T TBXAS1_ENST00000539806.1_Silent_p.T18T|TBXAS1_ENST00000416849.2_Silent_p.T18T|TBXAS1_ENST00000414508.2_Silent_p.T18T|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000411653.1_Silent_p.T17T|TBXAS1_ENST00000458722.1_Silent_p.T17T|TBXAS1_ENST00000448866.1_Silent_p.T17T|TBXAS1_ENST00000336425.5_Silent_p.T17T|TBXAS1_ENST00000436047.2_Silent_p.T18T|TBXAS1_ENST00000425687.1_Intron|TBXAS1_ENST00000455353.1_Silent_p.T17T NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 17 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) CCATGGTGACGGTGGCCCTGT 0.572000 3 59 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107956552 107956552 + Missense_Mutation SNP C C G TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr4:107956552C>G ENST00000285311.3 - 1 902 c.197G>C c.(196-198)aGt>aCt p.S66T DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 66 multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GCCCTTCTTACTGCCGCCGAA 0.577000 4 74 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39635168 39635168 + Missense_Mutation SNP C C T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr17:39635168C>T ENST00000246639.2 - 4 833 c.701G>A c.(700-702)cGa>cAa p.R234Q KRT35_ENST00000393989.1_Missense_Mutation_p.R264Q Q92764 KRT35_HUMAN keratin 35 264 Coil 1B.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) CTCCAGAACTCGGTTCAGGTC 0.552000 6 77 0 0 1 0 0 ALDH1A1 216 broad.mit.edu 37 9 75520934 75520934 + Missense_Mutation SNP C C T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr9:75520934C>T ENST00000297785.3 - 12 1427 c.1373G>A c.(1372-1374)gGc>gAc p.G458D NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 458 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) ACTTACCACGCCATAGCAATT 0.343000 14 39 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35993797 35993797 + Missense_Mutation SNP C C A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chrX:35993797C>A ENST00000297866.5 + 15 2546 c.2480C>A c.(2479-2481)aCc>aAc p.T827N NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 827 p.T827N(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AGGTCTTTCACCTTTACAGTG 0.383000 38 57 1.62957e-23 1.76099e-23 1 1 0 H2AFV 94239 broad.mit.edu 37 7 44875212 44875212 + Missense_Mutation SNP G G T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr7:44875212G>T ENST00000222690.6 - 4 346 c.241C>A c.(241-243)Cgt>Agt p.R81S H2AFV_ENST00000521529.1_Intron|H2AFV_ENST00000446531.1_Missense_Mutation_p.R81S|H2AFV_ENST00000437072.1_Missense_Mutation_p.R43S|H2AFV_ENST00000381124.5_Intron|H2AFV_ENST00000350771.3_Missense_Mutation_p.R55S|H2AFV_ENST00000349299.3_Missense_Mutation_p.R43S|H2AFV_ENST00000308153.4_Missense_Mutation_p.R81S NM_138635.3 NP_619541.1 Q71UI9 H2AV_HUMAN H2A histone family, member V 81 nucleosome assembly nucleosome|nucleus DNA binding endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 9 GGAGTGATACGCTTTACTTTG 0.448000 3 73 1 1 1 1 0 NGEF 25791 broad.mit.edu 37 2 233757683 233757683 + Missense_Mutation SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr2:233757683G>A ENST00000264051.3 - 7 1345 c.1067C>T c.(1066-1068)gCg>gTg p.A356V NGEF_ENST00000539537.1_Missense_Mutation_p.A79V|NGEF_ENST00000373552.4_Missense_Mutation_p.A264V NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 356 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GTGGTCGGCCGCATAACGGTA 0.562000 4 162 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31538334 31538334 + Missense_Mutation SNP C C T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr18:31538334C>T ENST00000261592.5 - 7 1402 c.1105G>A c.(1105-1107)Gta>Ata p.V369I NOL4_ENST00000589544.1_Missense_Mutation_p.V369I|NOL4_ENST00000535384.1_Missense_Mutation_p.V84I|NOL4_ENST00000535475.1_Missense_Mutation_p.V214I|NOL4_ENST00000269185.4_Missense_Mutation_p.V255I|NOL4_ENST00000538587.1_Missense_Mutation_p.V295I NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 369 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 CCTCGGTCTACACTCTCATTT 0.448000 54 127 0 0 1 0 0 DPP7 29952 broad.mit.edu 37 9 140006206 140006206 + Splice_Site SNP T T C TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr9:140006206T>C ENST00000371579.2 - 11 1212 c.1207_splice c.e11-1 p.D403_splice NM_013379.2 NP_037511.2 Q9UHL4 DPP2_HUMAN dipeptidyl-peptidase 7 403 cytoplasmic membrane-bounded vesicle|extracellular region|lysosome aminopeptidase activity|protein binding|serine-type peptidase activity endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633) GGCTCTGAGATCTGCAAGGGG 0.652000 3 82 0 0 1 0 0 DDX5 1655 broad.mit.edu 37 17 62498337 62498337 + Missense_Mutation SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr17:62498337G>A ENST00000225792.5 - 10 1500 c.1099C>T c.(1099-1101)Cct>Tct p.P367S DDX5_ENST00000450599.2_Missense_Mutation_p.P288S|DDX5_ENST00000578804.1_Missense_Mutation_p.P367S NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 367 Helicase C-terminal. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) CCCATGGCAGGCCACCTAAGT 0.398000 T ETV4 prostate 3 33 0 0 1 0 0 CCIN 881 broad.mit.edu 37 9 36170121 36170121 + Missense_Mutation SNP C C T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr9:36170121C>T ENST00000335119.2 + 1 733 c.622C>T c.(622-624)Cgg>Tgg p.R208W NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 208 BACK. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) GGTGTACTTCCGGAAGGAGGA 0.488000 17 32 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128480693 128480693 + Silent SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr7:128480693G>A ENST00000325888.8 + 10 1902 c.1641G>A c.(1639-1641)gtG>gtA p.V547V FLNC_ENST00000346177.6_Silent_p.V547V NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 547 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 AGTATGTGGTGACCATCACGT 0.637000 6 472 0 0 1 0 0 PNMAL2 57469 broad.mit.edu 37 19 46998156 46998156 + Silent SNP G G A TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr19:46998156G>A ENST00000599531.1 - 1 1599 c.567C>T c.(565-567)ccC>ccT p.P189P AC011484.1_ENST00000377652.3_Silent_p.A89A|PNMAL2_ENST00000377655.2_Silent_p.P189P|PNMAL2_ENST00000594749.1_Intron NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 189 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CACTCCTCGCGGGAGCAGACG 0.647000 3 39 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47755624 47755624 + Missense_Mutation SNP T T C TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr11:47755624T>C ENST00000263773.5 - 10 1651 c.1639A>G c.(1639-1641)Aat>Gat p.N547D FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 547 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 GATTGTCTATTAATGCCTAGA 0.328000 21 38 0 0 1 0 0 SETMAR 6419 broad.mit.edu 37 3 4358185 4358185 + Missense_Mutation SNP A A G TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr3:4358185A>G ENST00000358065.4 + 3 1377 c.1310A>G c.(1309-1311)aAt>aGt p.N437S SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.N298S NM_006515.3 NP_006506.3 Q53H47 SETMR_HUMAN SET domain and mariner transposase fusion gene 424 Mariner transposase Hsmar1. DNA integration|DNA repair|transposition, DNA-mediated chromosome|nucleus DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Melanoma(143;0.0657) Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114) gaagaactcaatgtcaaccat 0.448000 Chromatin Structure 6 13 0 0 1 0 0 CCDC70 83446 broad.mit.edu 37 13 52439604 52439604 + Silent SNP G G A rs112168960 TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr13:52439604G>A ENST00000242819.4 + 2 386 c.90G>A c.(88-90)gcG>gcA p.A30A NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 30 extracellular region|plasma membrane p.A30A(1) breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) GGTCCCTGGCGGCATCCTCTC 0.507000 14 126 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95670323 95670323 + Missense_Mutation SNP C C T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr14:95670323C>T ENST00000298912.4 - 9 1476 c.1363G>A c.(1363-1365)Gaa>Aaa p.E455K NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 455 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) CTCAATGATTCCTTTGCCACT 0.468000 14 37 0 0 1 0 0 SLMO2 51012 broad.mit.edu 37 20 57613539 57613539 + Silent SNP C C T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr20:57613539C>T ENST00000355937.4 - 2 361 c.183G>A c.(181-183)ctG>ctA p.L61L SLMO2_ENST00000371033.5_Silent_p.L61L NM_016045.2 NP_057129.2 Q9Y3B1 SLMO2_HUMAN slowmo homolog 2 (Drosophila) 61 PRELI/MSF1. endometrium(1)|lung(2)|skin(2) 5 all_lung(29;0.00711) Colorectal(105;0.109) CAATGGAAGGCAGTCCCCACT 0.443000 5 105 0 0 1 0 0 CDKN3 1033 broad.mit.edu 37 14 54884631 54884631 + Nonsense_Mutation SNP C C T TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr14:54884631C>T ENST00000556102.2 + 7 580 c.514C>T c.(514-516)Cga>Tga p.R172* CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000458126.2_Nonsense_Mutation_p.R171*|CDKN3_ENST00000335183.6_Nonsense_Mutation_p.R172*|CDKN3_ENST00000543789.2_3'UTR|CDKN3_ENST00000395577.2_Nonsense_Mutation_p.R126*|CDKN3_ENST00000442975.2_Nonsense_Mutation_p.R132* Q16667 CDKN3_HUMAN cyclin-dependent kinase inhibitor 3 172 cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity perinuclear region of cytoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(2)|stomach(1) 3 AGACAGCCTGCGAGACCTAAG 0.458000 9 15 0 0 1 0 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20170029 20170029 + RNA SNP C C T rs144252881 by1000genomes TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr15:20170029C>T ENST00000338912.5 - 0 242 CCTGGAACTTCTGTGCATAGC 0.547000 4 215 0 0 1 0 0 AC007092.1 0 broad.mit.edu 37 2 58655794 58655796 + RNA DEL TGC TGC - rs10589511 TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr2:58655794_58655796delTGC ENST00000452840.1 + 0 127 TCTGTTCGTTtgctgctgctgct 0.700 3 3 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481923 142481925 + RNA DEL CAA CAA - TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr7:142481923_142481925delCAA ENST00000603901.1 + 0 591 NR_001296.3 GTGATTAGACCAACCCTTCCCAT 0.537 8 269 --- --- --- --- TSNARE1 203062 broad.mit.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - rs142964918 TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr8:143310866_143310868delGAT ENST00000524325.1 - 13 1691_1693 c.1516_1518delATC c.(1516-1518)del p.I506del TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 507 Poly-Ile. vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGAGGTGGCGATGATGATGATG 0.512 7 134 --- --- --- --- LINC00621 0 broad.mit.edu 37 13 23471558 23471558 + RNA DEL G G - TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr13:23471558delG ENST00000577004.1 - 0 652 CGGAGGCTGTGGGGGCCCGGG 0.617 2 4 --- --- --- --- SCAF1 58506 broad.mit.edu 37 19 50155567 50155569 + In_Frame_Del DEL AAG AAG - TCGA-FG-8186-01A-11D-2253-08 TCGA-FG-8186-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729f5374-cda6-4f84-8843-8d638ede22d1 033c9e3a-1498-4e9d-bbb1-2ab70851c8b8 g.chr19:50155567_50155569delAAG ENST00000360565.3 + 7 2045_2047 c.1921_1923delAAG c.(1921-1923)del p.K645del NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 645 Arg-rich.|Ser-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TGGCGGCAGCAAGAAGAAGAAGA 0.744 2 4 --- --- --- ---