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 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 3 61 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2222329 2222329 + Missense_Mutation SNP G G A TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr19:2222329G>A ENST00000398665.3 + 24 3197 c.3161G>A c.(3160-3162)gGc>gAc p.G1054D NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 1054 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 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) ACTGGTGCGGGCAGTGCCAAG 0.667000 3 47 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) 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) AGGAGAAGTTACGGGAAGGGA 0.527000 4 60 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 5 59 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195410689 195410689 + RNA SNP C C T rs6583275 by1000genomes TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr3:195410689C>T ENST00000445430.1 + 0 1886 CTTTGAGGTGCACTGGAGGAA 0.567000 3 39 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 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 5 39 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 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 4 59 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 5 51 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 5 43 0 0 1 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92981586 92981586 + Silent SNP G G A TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr15:92981586G>A ENST00000268164.3 + 4 531 c.294G>A c.(292-294)aaG>aaA p.K98K ST8SIA2_ENST00000539113.1_Silent_p.K77K NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 98 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) TTCACAGGAAGCAGATTTTAA 0.488000 4 208 0 0 1 0 0 GDPD1 284161 broad.mit.edu 37 17 57298002 57298002 + Missense_Mutation SNP C C T TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr17:57298002C>T ENST00000284116.4 + 1 169 c.32C>T c.(31-33)tCt>tTt p.S11F GDPD1_ENST00000581140.1_Missense_Mutation_p.S11F|GDPD1_ENST00000581276.1_Missense_Mutation_p.S11F NM_182569.3 NP_872375.2 Q8N9F7 GDPD1_HUMAN glycerophosphodiester phosphodiesterase domain containing 1 11 glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) TACCTTCTCTCTACGCTAGGA 0.532000 OREG0024617 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 115 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 5 44 0 0 1 0 0 USP37 57695 broad.mit.edu 37 2 219346911 219346911 + Missense_Mutation SNP A A T TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr2:219346911A>T ENST00000258399.3 - 17 2129 c.1717T>A c.(1717-1719)Tcg>Acg p.S573T USP37_ENST00000475553.1_5'UTR|USP37_ENST00000418019.1_Missense_Mutation_p.S573T|USP37_ENST00000415516.1_Missense_Mutation_p.S501T|USP37_ENST00000454775.1_Missense_Mutation_p.S573T NM_020935.2 NP_065986.2 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 573 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TTGTTAAGCGAGAGAGCCACA 0.388000 5 143 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18778602 18778602 + RNA SNP G G A TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr22:18778602G>A ENST00000412448.1 - 0 803 CTTGGCATCCGCGGCCACGGC 0.627000 3 19 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 3 79 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162462 90162462 + RNA SNP A A G TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr16:90162462A>G ENST00000567960.1 + 0 1198 TUBB8P7_ENST00000564451.1_RNA p.T398T(1) ACTGGTACACAGGCGAGGGCA 0.522000 3 158 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 3 143 0 0 1 0 0 OR3A3 8392 broad.mit.edu 37 17 3324703 3324703 + Missense_Mutation SNP A A G TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr17:3324703A>G ENST00000291231.1 + 1 842 c.842A>G c.(841-843)aAg>aGg p.K281R NM_012373.2 NP_036505.2 P47888 OR3A3_HUMAN olfactory receptor, family 3, subfamily A, member 3 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 GACAAGGATAAGGGGGTTGGG 0.507000 3 193 0 0 1 0 0 TSIX 0 broad.mit.edu 37 X 73043035 73043035 + RNA SNP T T C TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chrX:73043035T>C ENST00000604411.1 + 0 30996 XIST_ENST00000429829.1_lincRNA NR_003255.2 CCCTGAGCCCTTTTATCAGTC 0.333000 2 6 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 4 84 0 0 1 0 0 AKIRIN2 55122 broad.mit.edu 37 6 88385612 88385612 + Silent SNP T T C TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr6:88385612T>C ENST00000257787.5 - 4 1091 c.567A>G c.(565-567)caA>caG p.Q189Q NM_018064.3 NP_060534.1 Q53H80 AKIR2_HUMAN akirin 2 189 innate immune response|transcription, DNA-dependent transcriptional repressor complex large_intestine(4) 4 GTCGCATTATTTGATCATGCG 0.323000 3 67 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 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 25 59 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145327548 145327548 + Missense_Mutation SNP A A G TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr1:145327548A>G ENST00000342960.5 + 32 4140 c.4105A>G c.(4105-4107)Aat>Gat p.N1369D NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1369 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) GGACTCACTGAATAGATGTTA 0.473000 3 69 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35396935 35396935 + Splice_Site SNP G G A TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr9:35396935G>A ENST00000378495.3 + 27 3507 c.e27+1 UNC13B_ENST00000378496.4_Splice_Site|UNC13B_ENST00000481299.1_Splice_Site|UNC13B_ENST00000396787.1_Splice_Site NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GAAGGATGGAGTAAGTCAGGG 0.552000 4 171 0 0 1 0 0 AC007092.1 0 broad.mit.edu 37 2 58655794 58655796 + RNA DEL TGC TGC - rs10589511 TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr2:58655794_58655796delTGC ENST00000452840.1 + 0 127 TCTGTTCGTTtgctgctgctgct 0.700 2 4 --- --- --- --- GBA3 57733 broad.mit.edu 37 4 22729654 22729655 + RNA INS - - T TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr4:22729654_22729655insT ENST00000508166.1 + 0 160 GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GTTCCCCTGAGTTTTTTTTTCT 0.342 2 4 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32522756 32522756 + RNA DEL A A - TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr6:32522756delA ENST00000411500.1 - 0 458 NR_001298.1 GGACTAGGAGAAAAAAAGGTA 0.517 8 29 --- --- --- --- C6orf89 221477 broad.mit.edu 37 6 36867371 36867371 + Frame_Shift_Del DEL C C - TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr6:36867371delC ENST00000480824.2 + 3 445 c.151delC c.(151-153)ccfs p.P53fs C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 53 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 ACCTCAGAGACCCCCCCCGCA 0.428 7 114 --- --- --- --- GDF6 392255 broad.mit.edu 37 8 97157245 97157245 + Frame_Shift_Del DEL G G - TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr8:97157245delG ENST00000287020.5 - 2 1013 c.914delC c.(913-915)cgfs p.P305fs NM_001001557.2 NP_001001557.1 Q6KF10 GDF6_HUMAN growth differentiation factor 6 305 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 Breast(36;2.67e-05) gcccgcgcccgggcccgcAGC 0.776 2 4 --- --- --- --- TXNRD1 7296 broad.mit.edu 37 12 104651840 104651840 + Frame_Shift_Del DEL T T - TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr12:104651840delT ENST00000525566.1 + 3 311 c.287delT c.(286-288)ctfs p.L96fs TXNRD1_ENST00000526006.1_3'UTR|TXNRD1_ENST00000429002.2_Frame_Shift_Del_p.L96fs NM_001093771.2 NP_001087240.1 Q16881 TRXR1_HUMAN thioredoxin reductase 1 96 Glutaredoxin. cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 TATTTTGTGCTTGAACTTGAT 0.308 2 4 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7788212 7788214 + In_Frame_Del DEL GAG GAG - TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr17:7788212_7788214delGAG ENST00000380358.4 + 1 89_91 c.88_90delGAG c.(88-90)del p.E35del LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 450 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) agagggcgacgaggaggaggagg 0.685 4 6 --- --- --- --- ISYNA1 51477 broad.mit.edu 37 19 18547527 18547528 + Frame_Shift_Del DEL CG CG - TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr19:18547527_18547528delCG ENST00000545187.1 - 2 411_412 c.125_126delCG c.(124-126)gfs p.A42fs ISYNA1_ENST00000317018.6_Intron|ISYNA1_ENST00000578963.1_Frame_Shift_Del_p.A64fs|ISYNA1_ENST00000338128.7_Frame_Shift_Del_p.A192fs|ISYNA1_ENST00000457269.3_Frame_Shift_Del_p.A138fs Q9NPH2 INO1_HUMAN inositol-3-phosphate synthase 1 192 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 12 TGAGGTTGTCCGCGCGCGCGCT 0.644 3 4 --- --- --- --- POM121L9P 0 broad.mit.edu 37 22 24656046 24656046 + RNA DEL G G - TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr22:24656046delG ENST00000414583.2 + 0 1948 NR_003714.1 AGCTGCTGGTGGGGAGGTCTT 0.637 4 8 --- --- --- ---