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 RBM47 54502 broad.mit.edu 37 4 40434683 40434683 + Silent SNP C C T TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr4:40434683C>T ENST00000319592.4 - 5 2029 c.1320G>A c.(1318-1320)acG>acA p.T440T RBM47_ENST00000381795.6_Silent_p.T440T|RBM47_ENST00000514014.1_Silent_p.T471T|RBM47_ENST00000381793.2_Silent_p.T509T|RBM47_ENST00000295971.7_Silent_p.T509T A0AV96 RBM47_HUMAN RNA binding motif protein 47 509 nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 AAGGTGGTGGCGTCGACACAG 0.552000 7 132 0 0 1 0 0 SUV39H2 79723 broad.mit.edu 37 10 14923614 14923614 + Silent SNP G G A TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr10:14923614G>A ENST00000378325.3 + 2 173 c.147G>A c.(145-147)gtG>gtA p.V49V SUV39H2_ENST00000313519.5_Intron|SUV39H2_ENST00000354919.6_Silent_p.V49V NM_001193426.1|NM_001193427.1 NP_001180355.1|NP_001180356.1 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 (Drosophila) 49 Chromo. cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|chromosome, centromeric region|nucleus histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding p.V49V(1) breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1) 19 ATTATGAGGTGGAATACTTGT 0.353000 31 74 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196746684 196746684 + Silent SNP T T C TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr2:196746684T>C ENST00000312428.6 - 36 5896 c.5796A>G c.(5794-5796)aaA>aaG p.K1932K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1932 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTTCTTTCAATTTCTTTATCC 0.338000 12 28 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214832258 214832258 + Silent SNP C C A TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr1:214832258C>A ENST00000366955.3 + 19 9196 c.9028C>A c.(9028-9030)Cgg>Agg p.R3010R NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 3106 Sufficient for centromere localization.|Sufficient for nuclear localization. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CATGGCAACTCGGACCAGCCC 0.522000 OREG0014250 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 132 0.184627 0.184627 1 1 0 CROCCP2 0 broad.mit.edu 37 1 16956534 16956534 + RNA SNP C C T TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr1:16956534C>T ENST00000412962.1 - 0 294 GACGGCGCCACGCAGGTGTTC 0.602000 7 51 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57187780 57187780 + Missense_Mutation SNP A A C TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr7:57187780A>C ENST00000331162.4 - 5 1612 c.1342T>G c.(1342-1344)Tta>Gta p.L448V NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) GTTGAGGATAAGCTAAAGGCT 0.438000 4 64 0 0 1 0 0 SDS 10993 broad.mit.edu 37 12 113835178 113835178 + Missense_Mutation SNP C C T TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr12:113835178C>T ENST00000257549.4 - 6 567 c.445G>A c.(445-447)Gtg>Atg p.V149M NM_006843.2 NP_006834.2 P20132 SDHL_HUMAN serine dehydratase 149 gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1) 11 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AGCTCTTTCACGATGGAAGCG 0.657000 29 65 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103868 53103868 + Missense_Mutation SNP G G T TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr7:53103868G>T ENST00000408890.4 + 1 520 c.504G>T c.(502-504)gaG>gaT p.E168D NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 168 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 ccgcccAGGAGCTCCTGGACC 0.721000 14 25 4.3838e-07 4.7345e-07 1 1 0 RBM12B 389677 broad.mit.edu 37 8 94747845 94747845 + Missense_Mutation SNP C C T TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr8:94747845C>T ENST00000399300.2 - 3 1007 c.794G>A c.(793-795)cGa>cAa p.R265Q RBM12B_ENST00000517700.1_Missense_Mutation_p.R265Q|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 265 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) AGACCGTTTTCGAAAATGTCT 0.403000 27 46 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661272 22661272 + RNA SNP C C T TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr22:22661272C>T ENST00000426066.1 + 0 360 NR_027293.1 CTGGGATGTACGTCTGCGTTG 0.488000 4 62 0 0 1 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554340 85554340 + Missense_Mutation SNP G G A TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr2:85554340G>A ENST00000377386.3 - 2 977 c.515C>T c.(514-516)gCg>gTg p.A172V TGOLN2_ENST00000444342.2_Missense_Mutation_p.A172V|TGOLN2_ENST00000282120.2_Missense_Mutation_p.A74V|TGOLN2_ENST00000409015.1_Missense_Mutation_p.A172V|TGOLN2_ENST00000398263.2_Missense_Mutation_p.A172V|TGOLN2_ENST00000409232.3_Missense_Mutation_p.A172V O43493 TGON2_HUMAN trans-golgi network protein 2 172 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding TGTGGTCTGCGCCTCCGAACC 0.597000 43 528 0 0 1 0 0 FRMD6 122786 broad.mit.edu 37 14 52188751 52188751 + Missense_Mutation SNP A A G TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr14:52188751A>G ENST00000395718.2 + 12 1706 c.1421A>G c.(1420-1422)tAc>tGc p.Y474C FRMD6_ENST00000344768.5_Missense_Mutation_p.Y482C|FRMD6_ENST00000554167.1_Missense_Mutation_p.Y405C|FRMD6_ENST00000356218.4_Missense_Mutation_p.Y474C|FRMD6_ENST00000553556.1_Missense_Mutation_p.Y124C NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 482 cytoskeleton|mitochondrion|plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) ATGTGCATCTACATCACAGAG 0.493000 4 54 0 0 1 0 0 GSN 2934 broad.mit.edu 37 9 124062285 124062285 + Splice_Site SNP T T G TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr9:124062285T>G ENST00000373818.4 + 1 213 c.e1+2 GSN_ENST00000412819.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000545652.1_Intron NM_000177.4|NM_001258029.1 NP_000168.1|NP_001244958.1 P06396 GELS_HUMAN gelsolin actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 gaggcgcgggtgagtgcccgg 0.697000 9 20 0 0 1 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87446746 87446746 + Silent SNP G G C TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr16:87446746G>C ENST00000268616.4 - 11 1465 c.1248C>G c.(1246-1248)tcC>tcG p.S416S NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 416 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) AGTACTCCGAGGAACTGCCTT 0.642000 4 18 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350361 100350361 + RNA SNP T T C TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr7:100350361T>C ENST00000542585.1 + 0 2781 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACGGAAAAACTCACCATCCCC 0.502000 7 157 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 24 0 0 1 0 0 AKR1C3 8644 broad.mit.edu 37 10 5136713 5136713 + Missense_Mutation SNP C C A TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr10:5136713C>A ENST00000380554.3 + 1 729 c.77C>A c.(76-78)cCt>cAt p.P26H AKR1C3_ENST00000605149.1_Intron|AKR1C3_ENST00000439082.2_Intron|AKR1C3_ENST00000470862.2_Intron NM_001253908.1|NM_003739.5 NP_001240837.1|NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 26 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) ACCTATGCACCTCCAGAGGTA 0.418000 4 143 0.150653 0.156448 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 32 49 0 0 1 0 0 TYRO3 7301 broad.mit.edu 37 15 41862822 41862822 + Missense_Mutation SNP G G A rs142874537 TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr15:41862822G>A ENST00000263798.3 + 12 1728 c.1504G>A c.(1504-1506)Gat>Aat p.D502N TYRO3_ENST00000559066.1_Missense_Mutation_p.D457N NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 502 integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GGGCATCAGCGATGAACTAAA 0.547000 14 114 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150554897 150554897 + Missense_Mutation SNP G G A TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr7:150554897G>A ENST00000493429.1 + 4 1923 c.1339G>A c.(1339-1341)Ggc>Agc p.G447S AOC1_ENST00000467291.1_Missense_Mutation_p.G447S|AOC1_ENST00000416793.2_Missense_Mutation_p.G447S|AOC1_ENST00000360937.4_Missense_Mutation_p.G447S amine oxidase, copper containing 1 GGGGCTGAAGGGCCAGGTGCT 0.522000 5 45 0 0 1 0 0 ZNF284 342909 broad.mit.edu 37 19 44590377 44590377 + Missense_Mutation SNP A A T TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr19:44590377A>T ENST00000421176.3 + 5 962 c.746A>T c.(745-747)cAt>cTt p.H249L ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) ATGTATGTTCATTGCAAATTA 0.418000 5 81 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39799059 39799060 + Frame_Shift_Ins INS - - G TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr1:39799059_39799060insG ENST00000564288.1 + 37 7576_7577 c.6799_6800insG c.(6799-6801)ggafs p.G2267fs MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2272 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATAGTGGCAGGGAAATTTTT 0.391 19 93 --- --- --- --- NR1I3 0 broad.mit.edu 37 1 161202999 161203000 + Frame_Shift_Ins INS - - G rs139473535 by1000genomes TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr1:161202999_161203000insG ENST00000367983.4 - 4 661_662 c.367_368insC c.(367-369)ccafs p.P123fs NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 123 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCCATGTGGCGGGTGTGGGCC 0.564 7 197 --- --- --- --- RP11-453E17.1 0 broad.mit.edu 37 4 68632418 68632419 + RNA INS - - ACACACACAT rs59536241 by1000genomes TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr4:68632418_68632419insACACACACAT ENST00000500538.2 + 0 1905 RP11-453E17.1_ENST00000502758.1_RNA cacacacacacaTATATATAct 0.431 6 7 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327864 16327865 + In_Frame_Ins INS - - TGC TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr6:16327864_16327865insTGC ENST00000244769.4 - 8 1613_1614 c.677_678insGCA c.(676-678)cct>cGCAct p.226_226P>RT ATXN1_ENST00000436367.1_In_Frame_Ins_p.226_226P>RT NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 226 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CCCTGCTGAGGtgctgctgctg 0.653 3 6 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 8 7 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 20 39 --- --- --- --- SLC5A10 125206 broad.mit.edu 37 17 18918510 18918511 + In_Frame_Ins INS - - CGGTACGGGGGTGGGGGC rs71839010 TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chr17:18918510_18918511insCGGTACGGGGGTGGGGGC ENST00000317977.6 + 10 1609_1610 c.1038_1039insCGGTACGGGGGTGGGGGC c.(1036-1041)gggcac>ggCGGTACGGGGGTGGGGGCgcac p.346_347GH>GGTGVGAH SLC5A10_ENST00000395643.2_In_Frame_Ins_p.386_387GA>GGTGVGAA|SLC5A10_ENST00000395647.2_In_Frame_Ins_p.429_430GA>GGTGVGAA|SLC5A10_ENST00000395642.1_In_Frame_Ins_p.346_347GH>GGTGVGAH|SLC5A10_ENST00000395645.3_In_Frame_Ins_p.413_414GA>GGTGVGAA|SLC5A10_ENST00000417251.2_In_Frame_Ins_p.377_378GA>GGTGVGAA A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 413 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 TGCTGGTGGGACGGTACGGGGG 0.644 7 18 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-DJ-A3V8-01A-11D-A23M-08 TCGA-DJ-A3V8-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26bcb953-7519-49e7-b082-98d98597c965 1e8f4678-2a06-4cf6-9bc8-722dd7440759 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 7 15 --- --- --- ---