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 LOC101927079 101927079 broad.mit.edu 37 15 22332570 22332570 + RNA SNP T T C TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr15:22332570T>C ENST00000558896.1 + 0 377 CCCATGCTCATCTGCTCCAAT 0.398000 5 496 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18915370 18915370 + Missense_Mutation SNP C C T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chrX:18915370C>T ENST00000379942.4 - 30 3858 c.3193G>A c.(3193-3195)Ggc>Agc p.G1065S NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1065 Calmodulin-binding (Potential). glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) AGCCACTGGCCCTGCCGCTCA 0.622000 6 122 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496770 20496770 + RNA SNP T T C rs3865047 by1000genomes TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr15:20496770T>C ENST00000555186.1 + 0 823 NR_038836.1 TTATAGTGTGTATTTTAATTA 0.353000 5 44 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 30 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 52 58 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A A T rs76309140 TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr2:97869931A>T ENST00000420699.2 + 50 3236 c.2992A>T c.(2992-2994)Aca>Tca p.T998S ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 998 p.T998S(13) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CATTCAGGCTACAAGTGATGA 0.289000 5 41 0 0 1 0 0 ZNF275 10838 broad.mit.edu 37 X 152613127 152613127 + Missense_Mutation SNP G G T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chrX:152613127G>T ENST00000421401.3 + 4 1161 c.984G>T c.(982-984)aaG>aaT p.K328N ZNF275_ENST00000370249.2_Missense_Mutation_p.K275N|ZNF275_ENST00000440091.1_Missense_Mutation_p.K358N|ZNF275_ENST00000370251.2_Intron NM_001080485.3 NP_001073954.3 A6NFS0 A6NFS0_HUMAN zinc finger protein 275 244 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGTGCGGCAAGGCCTTCCGCC 0.692000 7 39 0.000274275 0.000281688 1 1 0 THUMPD2 80745 broad.mit.edu 37 2 39997221 39997221 + Missense_Mutation SNP C C A TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr2:39997221C>A ENST00000505747.1 - 3 328 c.301G>T c.(301-303)Gat>Tat p.D101Y THUMPD2_ENST00000260619.6_Missense_Mutation_p.D71Y|THUMPD2_ENST00000454352.2_Missense_Mutation_p.D71Y|THUMPD2_ENST00000403537.3_5'UTR NM_025264.4 NP_079540.2 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 101 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 17 all_hematologic(82;0.248) CTTCCTGGATCTTCATTTATA 0.289000 6 57 3.59834e-05 4.02167e-05 1 1 0 CUX2 23316 broad.mit.edu 37 12 111729283 111729283 + Silent SNP T T C TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr12:111729283T>C ENST00000261726.6 + 5 517 c.363T>C c.(361-363)ttT>ttC p.F121F NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 121 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CCCCCAGCTTTGACCCCAGTG 0.627000 4 75 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49071913 49071913 + Silent SNP G G A TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chrX:49071913G>A ENST00000376265.2 - 28 3421 c.3360C>T c.(3358-3360)taC>taT p.Y1120Y CACNA1F_ENST00000323022.5_Silent_p.Y1109Y|CACNA1F_ENST00000376251.1_Silent_p.Y1055Y NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1120 Dihydropyridine binding (By similarity). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) TGATGATGATGTAGACAATGA 0.493000 16 22 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414331 20414331 + Silent SNP G G A rs10964556 TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr9:20414331G>A ENST00000380338.4 - 5 799 c.513C>T c.(511-513)agC>agT p.S171S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S168S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 171 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctgctgctgc 0.537000 T MLL ALL 5 71 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076861 9076861 + Missense_Mutation SNP C C T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr19:9076861C>T ENST00000397910.4 - 3 10788 c.10585G>A c.(10585-10587)Gac>Aac p.D3529N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3530 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGGTTACGTCCAGGATGCTC 0.517000 46 173 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109384207 109384207 + Nonsense_Mutation SNP G G A TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr2:109384207G>A ENST00000283195.6 + 20 7338 c.7212G>A c.(7210-7212)tgG>tgA p.W2404* NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2404 RanBD1 3. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TATGGTTGTGGACTGCATGTG 0.368000 50 831 0 0 1 0 0 ZBTB14 7541 broad.mit.edu 37 18 5291780 5291780 + Missense_Mutation SNP T T G TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr18:5291780T>G ENST00000357006.4 - 4 765 c.427A>C c.(427-429)Aag>Cag p.K143Q ZBTB14_ENST00000400143.3_Missense_Mutation_p.K143Q NM_001143823.2|NM_001243704.1 NP_001137295.1|NP_001230633.1 zinc finger and BTB domain containing 14 AGGCAATACTTACTTTTGGAC 0.448000 47 136 0 0 1 0 0 ZNF613 79898 broad.mit.edu 37 19 52448551 52448551 + Missense_Mutation SNP T T G TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr19:52448551T>G ENST00000293471.6 + 6 2094 c.1415T>G c.(1414-1416)aTt>aGt p.I472S ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.I436S NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 472 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) TCAGGTCTCATTAACCACCAG 0.423000 40 53 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 7 82 0 0 1 0 0 TMEM208 29100 broad.mit.edu 37 16 67262480 67262480 + Missense_Mutation SNP A A G TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr16:67262480A>G ENST00000563953.1 + 4 461 c.35A>G c.(34-36)gAt>gGt p.D12G TMEM208_ENST00000565201.1_Missense_Mutation_p.D82G|TMEM208_ENST00000304800.9_Missense_Mutation_p.D82G|TMEM208_ENST00000563426.1_3'UTR Q9BTX3 TM208_HUMAN transmembrane protein 208 82 integral to membrane breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1) 5 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) TTCTCTGAGGATGGGGCCCTG 0.622000 15 14 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227333333 227333333 + Missense_Mutation SNP T T C TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr1:227333333T>C ENST00000366769.3 - 8 2291 c.1000A>G c.(1000-1002)Ata>Gta p.I334V CDC42BPA_ENST00000535525.1_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.I334V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.I334V NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 334 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) AAGTCTTCTATTCCATTTTGA 0.393000 58 89 0 0 1 0 0 KRT16P6 353194 broad.mit.edu 37 17 16723346 16723346 + RNA SNP C C T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr17:16723346C>T ENST00000417510.1 - 0 773 GTCCAGCACCCCAGCACCTGG 0.557000 33 208 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12712508 12712508 + Missense_Mutation SNP G G A rs148666498 TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chrX:12712508G>A ENST00000380682.1 + 9 1374 c.868G>A c.(868-870)Gtc>Atc p.V290I NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 290 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AATTAGCTTCGTCCCAAAAGA 0.413000 30 83 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74091638 74091638 + Missense_Mutation SNP G G A TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr18:74091638G>A ENST00000443185.2 - 4 2749 c.2432C>T c.(2431-2433)tCc>tTc p.S811F ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 811 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) TCCGCTCCGGGAAAGGAAAAC 0.612000 29 30 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37366507 37366507 + Missense_Mutation SNP A A T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr3:37366507A>T ENST00000361924.2 + 14 3504 c.3130A>T c.(3130-3132)Ata>Tta p.I1044L GOLGA4_ENST00000356847.4_Missense_Mutation_p.I1066L|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1044 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CAATGATGTCATATCAATCTG 0.378000 21 15 0 0 1 0 0 TUBB4A 10382 broad.mit.edu 37 19 6495551 6495551 + Missense_Mutation SNP C C T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr19:6495551C>T ENST00000264071.2 - 4 1330 c.959G>A c.(958-960)cGc>cAc p.R320H TUBB4A_ENST00000540257.1_Missense_Mutation_p.R320H P04350 TBB4_HUMAN tubulin, beta 4A class IVa 320 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity CATGGACATGCGGCCCCGGAA 0.637000 5 192 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77331217 77331217 + Missense_Mutation SNP T T G TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr16:77331217T>G ENST00000282849.5 - 18 3188 c.2770A>C c.(2770-2772)Aaa>Caa p.K924Q NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 924 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTGCAGATTTTGGGCTCAGTT 0.398000 4 97 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21555612 21555612 + Silent SNP G G T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr13:21555612G>T ENST00000382592.4 - 6 3063 c.2658C>A c.(2656-2658)ctC>ctA p.L886L LATS2_ENST00000542899.1_Silent_p.L886L NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 886 Protein kinase. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TACCTTTGCGGAGGAGCACCT 0.607000 13 28 7.07596e-05 7.68247e-05 1 1 0 LOC101928372 101928372 broad.mit.edu 37 1 160905974 160905975 + RNA INS - - T TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr1:160905974_160905975insT ENST00000356006.3 + 0 629 tcttcttcttcttttttttttt 0.391 3 5 --- --- --- --- RNF20 56254 broad.mit.edu 37 9 104307131 104307133 + In_Frame_Del DEL TCT TCT - TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr9:104307131_104307133delTCT ENST00000389120.3 + 6 801_803 c.711_713delTCT c.(709-714)gat>ga p.DL237del NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 237 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) AATTGACAGATCTTCTTCAGGAA 0.458 54 93 --- --- --- --- BCL2L2 599 broad.mit.edu 37 14 23778132 23778132 + Frame_Shift_Del DEL G G - TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr14:23778132delG ENST00000250405.5 + 4 769 c.540delG c.(538-540)ctfs p.L180fs BCL2L2-PABPN1_ENST00000553781.1_Intron|BCL2L2-PABPN1_ENST00000557008.1_Intron NM_001199839.1|NM_004050.4 NP_001186768.1|NP_004041.1 BCL2-like 2 central_nervous_system(1)|lung(4)|prostate(1) 6 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00654) CCGTGGCACTGGGGGCCCTGG 0.652 16 74 --- --- --- --- SCARNA15 677778 broad.mit.edu 37 20 41933319 41933319 + RNA DEL A A - rs79619980 TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr20:41933319delA ENST00000516384.1 + 0 125 TATCaatagcaaaaaaaaaaa 0.318 2 4 --- --- --- --- BCAS1 8537 broad.mit.edu 37 20 52558052 52558052 + Frame_Shift_Del DEL T T - TCGA-QR-A6GW-01A-11D-A35D-08 TCGA-QR-A6GW-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cbc6621-a98f-4724-9162-14b25e317fe5 57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687 g.chr20:52558052delT ENST00000371440.3 - 12 2127 c.1790delA c.(1789-1791)agfs p.K597fs AC005220.3_ENST00000450473.1_RNA O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 0 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) GAAGACACACTTCCCTGTGTA 0.403 2 4 --- --- --- ---