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 LANCL1 10314 broad.mit.edu 37 2 211302429 211302429 + Silent SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr2:211302429G>A ENST00000443314.1 - 6 1200 c.858C>T c.(856-858)ctC>ctT p.L286L LANCL1_ENST00000233714.4_Silent_p.L286L|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000450366.2_Silent_p.L286L|LANCL1_ENST00000441020.3_Silent_p.L286L|LANCL1_ENST00000431941.2_Silent_p.L286L|AC007970.1_ENST00000433296.1_RNA O43813 LANC1_HUMAN LanC lantibiotic synthetase component C-like 1 (bacterial) 286 cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569) AGGCCTGGATGAGCATGTAGA 0.358000 5 37 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f 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 4 91 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213415627 213415627 + Missense_Mutation SNP A A T TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr1:213415627A>T ENST00000366960.3 + 11 2958 c.2808A>T c.(2806-2808)ttA>ttT p.L936F RPS6KC1_ENST00000543354.1_Missense_Mutation_p.L639F|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L724F|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L924F|RPS6KC1_ENST00000490299.1_3'UTR NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 936 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) ACAACATCTTATTGAATGATA 0.398000 14 119 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 3 13 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) 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) ggaaggggaaaaaaagaaggg 0.413000 4 122 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.537000 4 20 0 0 1 0 0 POM121C 100101267 broad.mit.edu 37 7 75066839 75066839 + Missense_Mutation SNP C C T TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr7:75066839C>T ENST00000453279.2 - 7 1298 c.434G>A c.(433-435)cGc>cAc p.R145H POM121C_ENST00000257665.5_Missense_Mutation_p.R387H NM_001099415.1 NP_001092885.1 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 387 Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 AATGGCATTGCGGCTGGAGCT 0.502000 4 174 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 12 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890365 55890365 + Missense_Mutation SNP A A G TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr11:55890365A>G ENST00000313472.3 + 1 517 c.517A>G c.(517-519)Ata>Gta p.I173V NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TGACTCAAACATAATTCATCA 0.438000 4 228 0 0 1 0 0 DLX4 1748 broad.mit.edu 37 17 48046950 48046950 + Missense_Mutation SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr17:48046950G>A ENST00000240306.3 + 1 413 c.118G>A c.(118-120)Gca>Aca p.A40T DLX4_ENST00000503410.1_Intron|DLX4_ENST00000505318.2_Missense_Mutation_p.A40T NM_138281.2 NP_612138.1 Q92988 DLX4_HUMAN distal-less homeobox 4 40 MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9). multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3) 10 CCCTACAACCGCAGCCTCCCC 0.662000 4 135 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31137681 31137681 + Silent SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr10:31137681G>A ENST00000538351.1 - 7 2260 c.1506C>T c.(1504-1506)agC>agT p.S502S ZNF438_ENST00000436087.2_Silent_p.S551S|ZNF438_ENST00000331737.6_Silent_p.S541S|ZNF438_ENST00000375311.1_Silent_p.S115S|ZNF438_ENST00000452305.1_Silent_p.S541S|ZNF438_ENST00000361310.3_Silent_p.S551S|ZNF438_ENST00000444692.2_Silent_p.S541S|ZNF438_ENST00000442986.1_Silent_p.S551S|ZNF438_ENST00000413025.1_Silent_p.S551S NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 551 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) TCATGTGTGTGCTCAGGCTGC 0.473000 5 214 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 56 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72081809 72081809 + RNA SNP T T C TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr7:72081809T>C ENST00000438125.1 - 0 1246 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity GAACTTTCTCTGCAGTAGGTA 0.498000 4 51 0 0 1 0 0 ZNF512B 57473 broad.mit.edu 37 20 62597735 62597735 + Missense_Mutation SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr20:62597735G>A ENST00000450537.1 - 5 853 c.793C>T c.(793-795)Ccg>Tcg p.P265S ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S|ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S Q96KM6 Z512B_HUMAN zinc finger protein 512B 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TTGGTGACCGGCACAGACTTG 0.572000 6 438 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1269120 1269120 + Missense_Mutation SNP C C A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr11:1269120C>A ENST00000447027.1 + 31 11077 c.11019C>A c.(11017-11019)caC>caA p.H3673Q MUC5B_ENST00000529681.1_Missense_Mutation_p.H3670Q|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3670 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACTACGGCCACTGCCCCAGCA 0.597000 12 116 7.93312e-07 8.16645e-07 1 1 0 HS3ST3B1 9953 broad.mit.edu 37 17 14204904 14204904 + Silent SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr17:14204904G>A ENST00000360954.2 + 1 505 c.69G>A c.(67-69)ccG>ccA p.P23P NM_006041.1 NP_006032.1 Q9Y662 HS3SB_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 23 heparan sulfate proteoglycan biosynthetic process, enzymatic modification Golgi membrane|integral to plasma membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity large_intestine(3)|lung(3)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0887) CGCAgccgccgccgcccccgc 0.726000 3 4 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 4 75 0 0 1 0 0 PROL1 58503 broad.mit.edu 37 4 71275374 71275374 + Missense_Mutation SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr4:71275374G>A ENST00000399575.2 + 3 503 c.329G>A c.(328-330)aGa>aAa p.R110K PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 110 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) TTCCCACTAAGACCTTACTAT 0.403000 20 195 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152472814 152472814 + Silent SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr6:152472814G>A ENST00000367255.5 - 135 24925 c.24324C>T c.(24322-24324)ggC>ggT p.G8108G SYNE1_ENST00000354674.4_Silent_p.G263G|SYNE1_ENST00000265368.4_Silent_p.G8108G|SYNE1_ENST00000341594.5_Silent_p.G7720G|SYNE1_ENST00000539504.1_Silent_p.G263G|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Silent_p.G8037G|SYNE1_ENST00000423061.1_Silent_p.G8037G|SYNE1_ENST00000356820.4_Silent_p.G2632G NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8108 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCTCACGCTGGCCAATAAAAT 0.428000 HNSCC(10;0.0054) 7 28 0 0 1 0 0 TMEM144 55314 broad.mit.edu 37 4 159158779 159158779 + Silent SNP A A G TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr4:159158779A>G ENST00000296529.6 + 9 1186 c.666A>G c.(664-666)gcA>gcG p.A222A TMEM144_ENST00000503404.1_3'UTR NM_018342.4 NP_060812.2 Q7Z5S9 TM144_HUMAN transmembrane protein 144 222 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1) 19 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) GTATATATGCAGGGGCAAGCC 0.323000 10 38 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 34935028 34935028 + Silent SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr6:34935028G>A ENST00000360359.3 + 2 348 c.210G>A c.(208-210)ggG>ggA p.G70G ANKS1A_ENST00000535627.1_Silent_p.G70G NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 70 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TGTGGAGAGGGCCAAATGTGA 0.423000 4 121 0 0 1 0 0 GPX4 2879 broad.mit.edu 37 19 1105248 1105248 + Missense_Mutation SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr19:1105248G>A ENST00000354171.8 + 2 255 c.148G>A c.(148-150)Gac>Aac p.D50N GPX4_ENST00000589115.1_Missense_Mutation_p.D50N NM_001039847.1|NM_002085.3 NP_001034936.1|NP_002076.2 P36969 GPX4_HUMAN glutathione peroxidase 4 50 multicellular organismal development|phospholipid metabolic process glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity endometrium(1)|kidney(2) 3 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glutathione(DB00143) CAAGGACATCGACGGGCACAT 0.682000 14 83 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 56 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78443848 78443848 + Missense_Mutation SNP T T C TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr12:78443848T>C ENST00000397909.2 + 10 2272 c.2099T>C c.(2098-2100)aTg>aCg p.M700T NAV3_ENST00000536525.2_Missense_Mutation_p.M700T|NAV3_ENST00000228327.6_Missense_Mutation_p.M700T|NAV3_ENST00000266692.7_Missense_Mutation_p.M700T Q8IVL0 NAV3_HUMAN neuron navigator 3 700 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GAAGAGACTATGTCCAGTCTT 0.328000 HNSCC(70;0.22) 5 39 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16000403 16000403 + Missense_Mutation SNP T T C TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr19:16000403T>C ENST00000221700.5 - 7 843 c.748A>G c.(748-750)Acc>Gcc p.T250A CYP4F2_ENST00000592328.1_Missense_Mutation_p.T250A|CYP4F2_ENST00000011989.7_Missense_Mutation_p.T101A NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 250 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CCATCAGGGGTGAGATAATAC 0.557000 33 82 0 0 1 0 0 DIXDC1 85458 broad.mit.edu 37 11 111853098 111853098 + Silent SNP G G A TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr11:111853098G>A ENST00000440460.2 + 7 1101 c.804G>A c.(802-804)cgG>cgA p.R268R DIXDC1_ENST00000315253.5_Silent_p.R57R|DIXDC1_ENST00000389821.4_3'UTR NM_001037954.2 NP_001033043.1 Q155Q3 DIXC1_HUMAN DIX domain containing 1 268 Actin-binding. multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) GAGACTGGCGGCCAGGGAGCC 0.423000 OREG0021331 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 26 0 0 1 0 0 RP11-206L10.10 0 broad.mit.edu 37 1 745643 745643 + RNA DEL C C - TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr1:745643delC ENST00000435300.1 - 0 340 TTCAAAGTGACAGACTGTGGG 0.299 5 3 --- --- --- --- RTN4 57142 broad.mit.edu 37 2 55252907 55252910 + Frame_Shift_Del DEL AAAT AAAT - TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr2:55252907_55252910delAAAT ENST00000337526.6 - 3 2568_2571 c.2325_2328delATTT c.(2323-2328)tcfs p.SF775fs RTN4_ENST00000357376.3_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000404909.1_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000405240.1_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000354474.6_Frame_Shift_Del_p.SF543fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 775 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 TCATTGACTCAAATGAAGTCTCAG 0.363 24 89 --- --- --- --- RP11-324C10.1 0 broad.mit.edu 37 3 172992494 172992494 + RNA DEL C C - rs79222726 TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr3:172992494delC ENST00000447709.1 + 0 216 aacaaacaaacaaaaacatgt 0.512 4 4 --- --- --- --- NFE2L3 9603 broad.mit.edu 37 7 26224911 26224914 + Frame_Shift_Del DEL AGAT AGAT - TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr7:26224911_26224914delAGAT ENST00000056233.3 + 4 1852_1855 c.1593_1596delAGAT c.(1591-1596)acfs p.TD531fs NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 531 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 TTGAAGACACAGATAGAAACTTGA 0.431 31 85 --- --- --- --- FAM66B 100128890 broad.mit.edu 37 8 7191540 7191541 + RNA DEL CA CA - TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr8:7191540_7191541delCA ENST00000606573.1 - 0 703 GGGGTGcacgcacacacacaca 0.530 8 41 --- --- --- --- EBLN1 340900 broad.mit.edu 37 10 22498484 22498485 + In_Frame_Ins INS - - AGA rs145490621 by1000genomes TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr10:22498484_22498485insAGA ENST00000422359.2 - 1 465_466 c.428_429insTCT c.(427-429)cat>cTCTat p.143_143H>LY NM_001199938.1 NP_001186867.1 endogenous Bornavirus-like nucleoprotein 1 CAATGCCTATCAGATCACAGCA 0.455 4 2 --- --- --- --- TRAV9-2 28677 broad.mit.edu 37 14 22409533 22409537 + RNA DEL CTCTC CTCTC - rs57759840 TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr14:22409533_22409537delCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTT 0.410 4 9 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-WB-A81H-01A-11D-A35I-08 TCGA-WB-A81H-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2759a8f9-f3d1-4883-9ce4-ba235595c426 705edc68-43ca-465d-894e-1d6d39ab9d9f g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 7 83 --- --- --- ---