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 SPATA6L 55064 broad.mit.edu 37 9 4605438 4605438 + Missense_Mutation SNP A A C TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr9:4605438A>C ENST00000454239.2 - 11 1243 c.998T>G c.(997-999)tTc>tGc p.F333C SPATA6L_ENST00000381890.5_Missense_Mutation_p.S273A|SPATA6L_ENST00000475086.1_Missense_Mutation_p.F275C|SPATA6L_ENST00000381895.5_Missense_Mutation_p.F210C B4DIY4 B4DIY4_HUMAN spermatogenesis associated 6-like 275 ACCAGGATGGAACCTGCTCAA 0.413000 18 34 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35627724 35627724 + Missense_Mutation SNP A A G TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr17:35627724A>G ENST00000353139.5 - 10 1518 c.1037T>C c.(1036-1038)aTg>aCg p.M346T ACACA_ENST00000394406.2_Missense_Mutation_p.M309T|ACACA_ENST00000360679.3_Missense_Mutation_p.M251T|ACACA_ENST00000335166.5_Missense_Mutation_p.M231T NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 309 ATP-grasp.|Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GGCCTTGATCATTACTGGATA 0.398000 12 85 0 0 1 0 0 RGS8 85397 broad.mit.edu 37 1 182635109 182635109 + Missense_Mutation SNP T T C TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr1:182635109T>C ENST00000483095.2 - 5 445 c.188A>G c.(187-189)cAt>cGt p.H63R RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000258302.4_Missense_Mutation_p.H81R|RGS8_ENST00000367556.1_Missense_Mutation_p.H63R|RGS8_ENST00000367557.4_Missense_Mutation_p.H63R P57771 RGS8_HUMAN regulator of G-protein signaling 8 63 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5 CTTACACTTATGAGAGAGAAG 0.393000 4 112 0 0 1 0 0 PRMT10 90826 broad.mit.edu 37 4 148575325 148575325 + Missense_Mutation SNP C C T TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr4:148575325C>T ENST00000322396.6 - 9 1965 c.1723G>A c.(1723-1725)Gta>Ata p.V575I PRMT10_ENST00000541232.1_Missense_Mutation_p.V462I|TMEM184C_ENST00000508208.1_Intron NM_138364.2 NP_612373.2 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 (putative) 575 cytoplasm binding|protein methyltransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 ATGTTCTGTACAGTATTACTC 0.448000 5 52 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54871235 54871235 + Missense_Mutation SNP T T C TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr3:54871235T>C ENST00000474759.1 + 15 1496 c.1448T>C c.(1447-1449)gTg>gCg p.V483A CACNA2D3_ENST00000415676.2_Missense_Mutation_p.V483A|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.V483A|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.V389A NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 483 Cache. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) GCCATGCCTGTGTTTAGTAAG 0.542000 4 76 0 0 1 0 0 KDM5C 8242 broad.mit.edu 37 X 53231143 53231143 + Missense_Mutation SNP T T C TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chrX:53231143T>C ENST00000452825.3 - 11 2090 c.1558A>G c.(1558-1560)Aac>Gac p.N520D KDM5C_ENST00000404049.3_Missense_Mutation_p.N586D|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375379.3_Missense_Mutation_p.N587D|KDM5C_ENST00000375383.3_Missense_Mutation_p.N546D|KDM5C_ENST00000375401.3_Missense_Mutation_p.N587D NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 587 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 GCACACTGGTTTGTGCGGACA 0.478000 """N, F, S""" clear cell renal carcinoma 10 36 0 0 1 0 0 PAPSS2 9060 broad.mit.edu 37 10 89472868 89472868 + Missense_Mutation SNP C C T TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr10:89472868C>T ENST00000361175.4 + 3 551 c.182C>T c.(181-183)gCc>gTc p.A61V PAPSS2_ENST00000427144.2_Missense_Mutation_p.A65V|PAPSS2_ENST00000456849.1_Missense_Mutation_p.A61V|PAPSS2_ENST00000482258.1_3'UTR NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 61 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) ATAAGTTTTGCCCTGGAGGAG 0.473000 4 131 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35989875 35989875 + Missense_Mutation SNP T T A TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chrX:35989875T>A ENST00000297866.5 + 12 2209 c.2143T>A c.(2143-2145)Tct>Act p.S715T NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 715 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 GGAGGAAGAGTCTGTGAGAAG 0.383000 18 27 0 0 1 0 0 VEZT 55591 broad.mit.edu 37 12 95660174 95660174 + Missense_Mutation SNP T T G TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr12:95660174T>G ENST00000436874.1 + 5 581 c.476T>G c.(475-477)aTg>aGg p.M159R VEZT_ENST00000261219.6_Missense_Mutation_p.M111R|VEZT_ENST00000356859.4_3'UTR NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 159 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 TTGCTCGTTATGCTTCCCACT 0.408000 96 106 0 0 1 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166493 180166493 + Missense_Mutation SNP G G A TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr5:180166493G>A ENST00000307832.2 - 1 606 c.566C>T c.(565-567)gCg>gTg p.A189V NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 189 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) TTCTGTGTCCGCACAAGCCAA 0.507000 4 58 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19553785 19553785 + Silent SNP C C T TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr14:19553785C>T ENST00000409832.3 + 1 421 c.369C>T c.(367-369)taC>taT p.Y123Y NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 123 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 GGGGAGACTACGACGACAGCG 0.592000 5 576 0 0 1 0 0 MXD3 83463 broad.mit.edu 37 5 176737513 176737513 + Missense_Mutation SNP G G A TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr5:176737513G>A ENST00000427908.2 - 4 302 c.235C>T c.(235-237)Cgg>Tgg p.R79W MXD3_ENST00000513063.1_Missense_Mutation_p.R79W|MXD3_ENST00000423571.2_Missense_Mutation_p.R79W|MXD3_ENST00000439742.2_Missense_Mutation_p.R79W NM_001142935.1 NP_001136407.1 Q9BW11 MAD3_HUMAN MAX dimerization protein 3 79 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGCTTCAGCCGCTCCAGGCAC 0.692000 5 9 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29551323 29551323 + Missense_Mutation SNP G G A TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr2:29551323G>A ENST00000389048.3 - 6 2213 c.1307C>T c.(1306-1308)gCc>gTc p.A436V ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 436 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.A436V(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GCTCTGCAGGGCCATCTTGGA 0.592000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 3 31 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183504057 183504057 + Missense_Mutation SNP G G A TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr3:183504057G>A ENST00000305135.5 + 20 3076 c.2881G>A c.(2881-2883)Gtg>Atg p.V961M NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 961 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TTCCCCTGCCGTGGCCCTCTC 0.517000 3 31 0 0 1 0 0 DENND5A 23258 broad.mit.edu 37 11 9225671 9225671 + Missense_Mutation SNP T T C TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr11:9225671T>C ENST00000328194.3 - 4 805 c.485A>G c.(484-486)gAt>gGt p.D162G DENND5A_ENST00000530044.1_Missense_Mutation_p.D162G NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 162 breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 ATGTAGGACATCATACTCAGC 0.507000 3 25 0 0 1 0 0 C14orf28 122525 broad.mit.edu 37 14 45369991 45369991 + Missense_Mutation SNP A A G TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr14:45369991A>G ENST00000325192.3 + 2 628 c.353A>G c.(352-354)tAc>tGc p.Y118C C14orf28_ENST00000553841.1_3'UTR|C14orf28_ENST00000557112.1_Missense_Mutation_p.Y118C|RP11-857B24.5_ENST00000555157.1_RNA NM_001017923.1 NP_001017923.1 Q4W4Y0 CN028_HUMAN chromosome 14 open reading frame 28 118 endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2) 11 AAACAGCAATACAAATCTGAA 0.323000 3 40 0 0 1 0 0 OR4F6 390648 broad.mit.edu 37 15 102346304 102346304 + Nonsense_Mutation SNP A A T TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr15:102346304A>T ENST00000328882.4 + 1 403 c.382A>T c.(382-384)Aag>Tag p.K128* NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) GGCCATATGTAAGCCTCTCCA 0.448000 51 138 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66638898 66638898 + Silent SNP C C T TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr11:66638898C>T ENST00000393960.1 - 6 656 c.375G>A c.(373-375)gcG>gcA p.A125A PC_ENST00000524491.1_Silent_p.A85A|PC_ENST00000393958.2_Silent_p.A125A|PC_ENST00000355677.3_Silent_p.A125A|PC_ENST00000393955.2_Silent_p.A125A NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 125 Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GGGCGAAGTCCGCTCGCTCAG 0.632000 17 72 0 0 1 0 0 DNASE2B 58511 broad.mit.edu 37 1 84878060 84878060 + Silent SNP C C T TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr1:84878060C>T ENST00000370665.3 + 5 609 c.576C>T c.(574-576)aaC>aaT p.N192N DNASE2B_ENST00000370662.3_5'UTR NM_021233.2 NP_067056.2 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta 192 DNA metabolic process lysosome deoxyribonuclease II activity endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) GCAACCCCAACGTCTATAGCT 0.478000 15 34 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501812 140501812 + Missense_Mutation SNP C C T TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr5:140501812C>T ENST00000194152.1 + 1 232 c.232C>T c.(232-234)Cgt>Tgt p.R78C NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 78 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGCTGGATCGTCAGACTGG 0.552000 19 26 0 0 1 0 0 TRDN 10345 broad.mit.edu 37 6 123786033 123786033 + Frame_Shift_Del DEL A A - TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr6:123786033delA ENST00000546248.1 - 9 1022 c.889delT c.(889-891)ctfs p.S297fs RP11-532N4.2_ENST00000427828.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA NM_001256020.1 NP_001242949.1 Q13061 TRDN_HUMAN triadin 0 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) GATCTTTAAGAAAAAAAAAAG 0.388 2 4 --- --- --- --- MMS19 64210 broad.mit.edu 37 10 99220451 99220451 + Splice_Site DEL C C - TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr10:99220451delC ENST00000438925.2 - 25 2805 c.e25+1 MMS19_ENST00000355839.6_Splice_Site|MMS19_ENST00000370782.2_Splice_Site|MMS19_ENST00000327277.7_Splice_Site|MMS19_ENST00000327238.10_Splice_Site NM_022362.4 NP_071757.4 Q96T76 MMS19_HUMAN MMS19 nucleotide excision repair homolog (S. cerevisiae) chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay) cytoplasm|holo TFIIH complex|MMXD complex estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1) 16 Colorectal(252;0.0846) Epithelial(162;3.33e-10)|all cancers(201;2.74e-08) AAAGGACGTACCCGGGCTGTA 0.493 Direct reversal of damage 2 4 --- --- --- --- TESPA1 9840 broad.mit.edu 37 12 55359857 55359857 + Frame_Shift_Del DEL C C - TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr12:55359857delC ENST00000524622.1 - 5 673 c.12delG c.(10-12)ggfs p.G4fs TESPA1_ENST00000449076.1_Frame_Shift_Del_p.G142fs|TESPA1_ENST00000316577.8_Frame_Shift_Del_p.G142fs|TESPA1_ENST00000531122.1_Frame_Shift_Del_p.G4fs|TESPA1_ENST00000532804.1_Frame_Shift_Del_p.G4fs|TESPA1_ENST00000524959.1_Intron NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 142 TCTTGTTGGTCCCCCCAGTCA 0.512 2 4 --- --- --- --- SCAF4 57466 broad.mit.edu 37 21 33044257 33044259 + In_Frame_Del DEL GCT GCT - TCGA-QR-A6ZZ-01A-11D-A35D-08 TCGA-QR-A6ZZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42d183e8-221b-4e70-8f87-5945d04bfcc3 b7d26f9e-964c-436f-9e04-437792522c0b g.chr21:33044257_33044259delGCT ENST00000286835.7 - 20 3279_3281 c.2897_2899delAGC c.(2896-2901)cca>c p.QP966del SCAF4_ENST00000399804.1_In_Frame_Del_p.QP944del|SCAF4_ENST00000434667.3_In_Frame_Del_p.QP951del NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 966 Poly-Gln. nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GATGGTGgtggctgctgctgctg 0.581 8 107 --- --- --- ---