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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 149 0 0 0.000248 0 0 SVIL 6840 broad.mit.edu 37 10 29769508 29769508 + Missense_Mutation SNP C C A TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr10:29769508C>A ENST00000375398.2 - 31 5784 c.5335G>T c.(5335-5337)Gat>Tat p.D1779Y SVIL_ENST00000355867.4_Missense_Mutation_p.D1779Y|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000538146.1_Missense_Mutation_p.D571Y|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.D693Y|SVIL_ENST00000375400.3_Missense_Mutation_p.D1353Y|SVIL_ENST00000460007.1_5'UTR O95425 SVIL_HUMAN supervillin 1779 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) ACATAGGCATCCCCCTCATGG 0.557000 29 46 3.80469e-20 8.48739e-20 0.001786 1 0 FAM153A 285596 broad.mit.edu 37 5 177161894 177161894 + Missense_Mutation SNP G G T TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr5:177161894G>T ENST00000440605.3 - 12 757 c.474C>A c.(472-474)aaC>aaA p.N158K FAM153A_ENST00000510276.1_Missense_Mutation_p.N158K|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Intron NM_173663.3 NP_775934.3 Q9UHL3 F153A_HUMAN family with sequence similarity 153, member A 158 kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 11 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTCCTCACCGTTGTAACTGG 0.443000 7 15 0.000274275 0.000589184 0.004482 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 3 69 0 0 0.000602 0 0 WIPF1 7456 broad.mit.edu 37 2 175436655 175436655 + Missense_Mutation SNP G G A TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr2:175436655G>A ENST00000392547.2 - 5 977 c.878C>T c.(877-879)cCa>cTa p.P293L WIPF1_ENST00000409415.3_Missense_Mutation_p.P293L|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.P293L|WIPF1_ENST00000409891.1_Missense_Mutation_p.P293L|WIPF1_ENST00000359761.3_Missense_Mutation_p.P293L|WIPF1_ENST00000392546.2_Missense_Mutation_p.P293L|AC018890.6_ENST00000412835.1_RNA NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 293 Pro-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 GGAAGGCACTGGAGGCTTGTT 0.672000 3 22 0 0 0.000602 0 0 ASB10 136371 broad.mit.edu 37 7 150878358 150878358 + Missense_Mutation SNP C C T TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr7:150878358C>T ENST00000422024.1 - 3 1032 c.907G>A c.(907-909)Gtc>Atc p.V303I ASB10_ENST00000275838.1_Missense_Mutation_p.V258I|ASB10_ENST00000420175.2_Missense_Mutation_p.V258I|ASB10_ENST00000434669.1_Missense_Mutation_p.V303I|ASB10_ENST00000377867.3_Missense_Mutation_p.V243I NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 258 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGCAGCGGACGTCACAGGCA 0.647000 7 19 0 0 0.003080 0 0 UBE2F 140739 broad.mit.edu 37 2 238939226 238939226 + Missense_Mutation SNP C C T TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr2:238939226C>T ENST00000272930.4 + 7 577 c.383C>T c.(382-384)aCt>aTt p.T128I UBE2F_ENST00000409953.1_Missense_Mutation_p.T104I|UBE2F_ENST00000409633.1_Missense_Mutation_p.T128I|UBE2F-SCLY_ENST00000449191.1_Intron|UBE2F_ENST00000409332.1_Missense_Mutation_p.T106I|UBE2F_ENST00000414443.1_Missense_Mutation_p.T96I NM_001278305.1|NM_080678.2 NP_001265234.1|NP_542409.1 Q969M7 UBE2F_HUMAN ubiquitin-conjugating enzyme E2F (putative) 128 protein neddylation ATP binding|NEDD8 ligase activity|protein binding endometrium(1)|large_intestine(1) 2 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301) ATTGATGGCACTGGCTGGGCT 0.502000 8 18 0 0 0.004482 0 0 FLNA 0 broad.mit.edu 37 X 153585851 153585851 + Silent SNP G G A TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chrX:153585851G>A ENST00000422373.1 - 29 5144 c.4896C>T c.(4894-4896)taC>taT p.Y1632Y FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Silent_p.Y1632Y|FLNA_ENST00000369850.3_Silent_p.Y1632Y|FLNA_ENST00000344736.4_Silent_p.Y1632Y NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1632 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CACGCACGCGGTACGGGGAGA 0.657000 3 43 0 0 0.004672 0 0 IL2RA 3559 broad.mit.edu 37 10 6061871 6061871 + Missense_Mutation SNP C C T TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr10:6061871C>T ENST00000379959.3 - 5 790 c.617G>A c.(616-618)cGt>cAt p.R206H IL2RA_ENST00000256876.6_Missense_Mutation_p.R197H|IL2RA_ENST00000379954.1_Missense_Mutation_p.R134H NM_000417.2 NP_000408.1 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha 206 cell proliferation integral to membrane interleukin-2 receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) ACTCTCAGGACGGCCTTCGGG 0.597000 4 85 0 0 0.000602 0 0 FAM153B 202134 broad.mit.edu 37 5 175530270 175530270 + Missense_Mutation SNP C C A TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr5:175530270C>A ENST00000253490.4 + 13 762 c.705C>A c.(703-705)aaC>aaA p.N235K FAM153B_ENST00000515817.1_Missense_Mutation_p.N158K|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000510151.1_Missense_Mutation_p.N158K P0C7A2 F153B_HUMAN family with sequence similarity 153, member B 235 endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 16 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) CCAGTTACAACGGCGAGGAGG 0.448000 58 271 1.48005e-37 3.43371e-37 0.003610 1 0 ARHGEF40 55701 broad.mit.edu 37 14 21542856 21542856 + Missense_Mutation SNP G G A TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr14:21542856G>A ENST00000298694.4 + 3 1094 c.967G>A c.(967-969)Gag>Aag p.E323K ARHGEF40_ENST00000298693.3_Missense_Mutation_p.E323K Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 323 Gly-rich. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CCCAGGAGCTGAGGCTGTCCC 0.692000 4 10 0 0 0.000248 0 0 YDJC 150223 broad.mit.edu 37 22 21982797 21982797 + Silent SNP G G A TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr22:21982797G>A ENST00000292778.6 - 5 931 c.882C>T c.(880-882)tgC>tgT p.C294C YDJC_ENST00000398873.3_3'UTR NM_001017964.1 NP_001017964.1 A8MPS7 YDJC_HUMAN YdjC homolog (bacterial) 294 carbohydrate metabolic process hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds Colorectal(54;0.105) CGTCGAGGGCGCAAAGCTGCA 0.667000 4 54 0 0 0.000248 0 0 SLC8A1 6546 broad.mit.edu 37 2 40342407 40342407 + Missense_Mutation SNP T T C TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr2:40342407T>C ENST00000406785.1 - 8 2989 c.2800A>G c.(2800-2802)Ata>Gta p.I934V SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I934V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.I934V|SLC8A1_ENST00000542756.1_Missense_Mutation_p.I965V|SLC8A1_ENST00000408028.2_Missense_Mutation_p.I962V|SLC8A1_ENST00000332839.4_Missense_Mutation_p.I970V|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I934V|SLC8A1_ENST00000405901.3_Missense_Mutation_p.I965V|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.I934V|SLC8A1_ENST00000403092.1_Missense_Mutation_p.I970V|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 970 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AAGCCTTTTATGTGGCAGTAG 0.408000 3 57 0 0 0.004672 0 0 VAV3 10451 broad.mit.edu 37 1 108292102 108292102 + Silent SNP G G A rs143070546 by1000genomes TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr1:108292102G>A ENST00000370056.4 - 14 1648 c.1374C>T c.(1372-1374)acC>acT p.T458T VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Silent_p.T393T|VAV3_ENST00000527011.1_Silent_p.T458T NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 458 PH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TTTCTTTATCGGTTGTAGGAT 0.294000 9 42 0 0 0.006214 0 0 MAPK10 5602 broad.mit.edu 37 4 87028402 87028402 + Missense_Mutation SNP G G C TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr4:87028402G>C ENST00000395169.3 - 5 946 c.226C>G c.(226-228)Ctc>Gtc p.L76V MAPK10_ENST00000395157.3_5'UTR|MAPK10_ENST00000359221.3_Missense_Mutation_p.L114V|MAPK10_ENST00000395166.1_Missense_Mutation_p.L76V|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395161.2_Missense_Mutation_p.L114V|MAPK10_ENST00000395160.3_5'UTR|MAPK10_ENST00000361569.2_Missense_Mutation_p.L114V|MAPK10_ENST00000449047.2_5'UTR NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 114 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) CACTTCATGAGGACCAGCTCC 0.433000 3 75 0 0 0.000602 0 0 CCDC39 339829 broad.mit.edu 37 3 180381735 180381735 + Missense_Mutation SNP C C T TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr3:180381735C>T ENST00000273654.4 - 8 1001 c.382G>A c.(382-384)Gag>Aag p.E128K CCDC39_ENST00000442201.2_Missense_Mutation_p.E44K Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 44 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TCACGTAACTCATCTTGCAAG 0.333000 9 65 0 0 0.004482 0 0 MRFAP1L1 114932 broad.mit.edu 37 4 6711139 6711139 + Missense_Mutation SNP G G A TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr4:6711139G>A ENST00000320848.6 - 1 468 c.218C>T c.(217-219)gCc>gTc p.A73V NM_203462.2 NP_982287.1 Q96HT8 MR1L1_HUMAN Morf4 family associated protein 1-like 1 73 CTCCTCCGAGGCCTCCACCTG 0.602000 6 162 0 0 0.001168 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 4 39 0 0 0.000248 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162379 90162379 + RNA SNP A A G TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr16:90162379A>G ENST00000564451.1 + 0 1732 TUBB8P7_ENST00000567960.1_RNA TGGGAATAATACGGCCATCCA 0.522000 3 123 0 0 0.004672 0 0 B3GNTL1 146712 broad.mit.edu 37 17 80923589 80923589 + Missense_Mutation SNP G G C TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr17:80923589G>C ENST00000576599.1 - 7 955 c.205C>G c.(205-207)Ccc>Gcc p.P69A B3GNTL1_ENST00000320865.3_Missense_Mutation_p.P180A|B3GNTL1_ENST00000571954.1_5'UTR Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 180 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) AACCAGGTGGGCATGATCACC 0.552000 10 12 0 0 0.003163 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 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 39 56 0 0 0.008740 0 0 ARMCX1 51309 broad.mit.edu 37 X 100808364 100808364 + Missense_Mutation SNP G G A TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chrX:100808364G>A ENST00000372829.3 + 4 822 c.451G>A c.(451-453)Ggc>Agc p.G151S NM_016608.1 NP_057692.1 Q9P291 ARMX1_HUMAN armadillo repeat containing, X-linked 1 151 integral to membrane binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1) 19 CAGGGGTGGAGGCTGCCACCC 0.617000 4 141 0 0 0.000248 0 0 RP11-206L10.2 0 broad.mit.edu 37 1 700532 700532 + RNA DEL T T - TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr1:700532delT ENST00000428504.1 - 0 1021 NR_033908.1 aaaaaaaaaaTTCCTTTGGGA 0.453 2 4 --- --- --- --- CASP8AP2 9994 broad.mit.edu 37 6 90556397 90556398 + RNA INS - - T TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr6:90556397_90556398insT ENST00000551025.1 + 0 1492 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TTCTAAtttccttttttttttt 0.421 4 6 --- --- --- --- RP11-274B21.1 0 broad.mit.edu 37 7 128210235 128210237 + RNA DEL TTT TTT - TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr7:128210235_128210237delTTT ENST00000605862.1 + 0 189 gttttagttcttTTTTTTTTTTT 0.438 3 3 --- --- --- --- COMTD1 118881 broad.mit.edu 37 10 76994748 76994748 + Frame_Shift_Del DEL G G - TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr10:76994748delG ENST00000372538.3 - 5 532 c.450delC c.(448-450)gcfs p.A150fs COMTD1_ENST00000460899.1_5'UTR NM_144589.2 NP_653190.2 Q86VU5 CMTD1_HUMAN catechol-O-methyltransferase domain containing 1 150 integral to membrane O-methyltransferase activity central_nervous_system(1)|large_intestine(1)|lung(1) 3 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) GCTCCGCCTCGGCCTGCGGAG 0.697 2 4 --- --- --- --- INPP5F 22876 broad.mit.edu 37 10 121586793 121586794 + Frame_Shift_Del DEL CA CA - TCGA-ET-A3BQ-01B-11D-A202-08 TCGA-ET-A3BQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4 ed9c6a96-923e-4d15-a6a8-5579a37b2a75 g.chr10:121586793_121586794delCA ENST00000361976.2 + 20 3066_3067 c.2900_2901delCA c.(2899-2901)gfs p.A967fs INPP5F_ENST00000369080.3_Frame_Shift_Del_p.A357fs NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 967 phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) GTGCAAGATGCACAGAACAAAG 0.436 11 75 --- --- --- ---