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 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 5 160 0 0 1 0 0 FSHR 0 broad.mit.edu 37 2 49190947 49190947 + Missense_Mutation SNP C C T TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr2:49190947C>T ENST00000406846.2 - 10 1132 c.1013G>A c.(1012-1014)tGc>tAc p.C338Y FSHR_ENST00000541117.1_Missense_Mutation_p.C74Y|FSHR_ENST00000304421.4_Missense_Mutation_p.C312Y|FSHR_ENST00000346173.3_Missense_Mutation_p.C276Y NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 338 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CACTTCATTGCATAAGTCATA 0.473000 Gonadal Dysgenesis, 46 XX 26 33 0 0 1 0 0 RP11-707M1.1 0 broad.mit.edu 37 11 49831352 49831352 + RNA SNP G G C TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr11:49831352G>C ENST00000527477.1 + 0 1577 GTGGAGATTTGAGAAGCATTT 0.353000 5 10 0 0 1 0 0 TTK 7272 broad.mit.edu 37 6 80732143 80732143 + Nonsense_Mutation SNP C C G TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr6:80732143C>G ENST00000509894.1 + 11 2040 c.1211C>G c.(1210-1212)tCa>tGa p.S404* TTK_ENST00000515751.1_3'UTR|TTK_ENST00000369798.2_Nonsense_Mutation_p.S404*|TTK_ENST00000230510.3_Nonsense_Mutation_p.S404* P33981 TTK_HUMAN TTK protein kinase 404 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) GCTGCATCTTCAAATCACTGG 0.388000 21 30 0 0 1 0 0 SALL2 6297 broad.mit.edu 37 14 21992041 21992041 + Silent SNP C C T TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr14:21992041C>T ENST00000327430.3 - 2 2115 c.1821G>A c.(1819-1821)gtG>gtA p.V607V SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Silent_p.V470V NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 607 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CAGCTGAGGTCACCGCCACAG 0.582000 16 21 0 0 1 0 0 GPR101 83550 broad.mit.edu 37 X 136113520 136113520 + Missense_Mutation SNP G G A TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chrX:136113520G>A ENST00000298110.1 - 1 313 c.314C>T c.(313-315)aCg>aTg p.T105M NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 105 integral to membrane|plasma membrane G-protein coupled receptor activity p.T105M(1) autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) AACCAGGGCCGTGCAGAAGTG 0.612000 3 27 0 0 1 0 0 NR0B1 190 broad.mit.edu 37 X 30322801 30322801 + Silent SNP C C T TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chrX:30322801C>T ENST00000378970.4 - 2 1542 c.1308G>A c.(1306-1308)ctG>ctA p.L436L NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 436 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) TGATGAATCTCAGCAGGAAAA 0.468000 30 47 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100249532 100249532 + Silent SNP A A G TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr9:100249532A>G ENST00000355295.4 + 16 3289 c.2994A>G c.(2992-2994)gaA>gaG p.E998E TDRD7_ENST00000422139.2_Silent_p.E924E|TDRD7_ENST00000540902.1_Silent_p.E318E NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 998 Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity). lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) GCAAACACGAATTAGTCAACA 0.423000 3 59 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208269445 208269445 + Silent SNP C C T TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr1:208269445C>T ENST00000367033.3 - 8 2668 c.1911G>A c.(1909-1911)ctG>ctA p.L637L NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 637 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) CCTTGGACCTCAGCTGTAGCT 0.468000 65 124 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195698212 195698212 + RNA SNP C C A TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr3:195698212C>A ENST00000427841.1 - 0 1660 NR_003264.2 TGCTGAGTCGCAGTTCCGATG 0.453000 3 18 5.18039e-06 5.29301e-06 1 1 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 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.Q2724Q(16)|p.Q2725Q(1) 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) agcagcagcagcaacaacagc 0.562000 3 38 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 4 55 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65908048 65908048 + Missense_Mutation SNP C C T TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr17:65908048C>T ENST00000321892.4 + 13 4487 c.4426C>T c.(4426-4428)Ccg>Tcg p.P1476S BPTF_ENST00000424123.3_Missense_Mutation_p.P1337S|BPTF_ENST00000335221.5_Missense_Mutation_p.P1476S|BPTF_ENST00000306378.6_Missense_Mutation_p.P1350S Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1476 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GGACAGGCTGCCGGTCAAGGG 0.418000 3 22 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 50 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195395402 195395402 + RNA SNP C C A rs149044725 by1000genomes TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr3:195395402C>A ENST00000445430.1 + 0 809 TACGGGCGCACCTACTTGAGC 0.597000 4 40 0.000442599 0.000442599 1 1 0 SALL2 6297 broad.mit.edu 37 14 21992320 21992320 + Missense_Mutation SNP C C T TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr14:21992320C>T ENST00000327430.3 - 2 1836 c.1542G>A c.(1540-1542)atG>atA p.M514I SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.M377I NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 514 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CCACTGCTTTCATGAGCACAA 0.552000 21 15 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735160 55735160 + Missense_Mutation SNP C C A TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr11:55735160C>A ENST00000312345.2 - 1 830 c.780G>T c.(778-780)agG>agT p.R260S NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) GTTTCCCCATCCTTTGAAACT 0.383000 7 24 1.26484e-09 1.32106e-09 1 1 0 SPATA31D1 389763 broad.mit.edu 37 9 84603866 84603866 + Missense_Mutation SNP G G A TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr9:84603866G>A ENST00000344803.2 + 1 180 c.133G>A c.(133-135)Gtg>Atg p.V45M NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CTTGTTCTACGTGGTATTGAC 0.463000 14 23 0 0 1 0 0 GAGE2A 729447 broad.mit.edu 37 X 49355893 49355893 + Missense_Mutation SNP C C G rs147803166 by1000genomes TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chrX:49355893C>G ENST00000362097.1 + 3 258 c.175C>G c.(175-177)Cag>Gag p.Q59E NM_001127212.1 NP_001120684.1 G antigen 2A p.Q59E(8) endometrium(4) 4 Ovarian(276;0.236) TCAGGAGGGACAGGATGAGGG 0.562000 5 304 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102516411 102516411 + RNA SNP C C G TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr15:102516411C>G ENST00000557932.1 + 0 1359 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TCCATCCCTCCTCTGCCGCCA 0.662000 4 30 0 0 1 0 0 OR5M1 390168 broad.mit.edu 37 11 56380282 56380282 + Missense_Mutation SNP C C A TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr11:56380282C>A ENST00000526538.1 - 1 696 c.697G>T c.(697-699)Ggc>Tgc p.G233C NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 TTGTGCCTGCCTTCAGCAGAA 0.443000 22 42 5.77227e-19 6.16584e-19 1 1 0 TLR7 51284 broad.mit.edu 37 X 12905565 12905565 + Missense_Mutation SNP C C G TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chrX:12905565C>G ENST00000380659.3 + 3 2077 c.1938C>G c.(1936-1938)ttC>ttG p.F646L NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 646 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TACAATTATTCAAGAATCTGC 0.363000 34 57 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20764983 20764983 + Missense_Mutation SNP C C G TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr9:20764983C>G ENST00000380249.1 + 9 974 c.610C>G c.(610-612)Caa>Gaa p.Q204E FOCAD_ENST00000338382.6_Missense_Mutation_p.Q204E NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 204 integral to membrane binding AGTCTTACTTCAACCCCAGGT 0.403000 24 27 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24801369 24801369 + Missense_Mutation SNP C C T TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr16:24801369C>T ENST00000395799.3 + 6 1535 c.1406C>T c.(1405-1407)tCa>tTa p.S469L TNRC6A_ENST00000315183.7_Missense_Mutation_p.S469L NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 469 Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) AACTCCGGTTCAGTGCAGAAT 0.438000 15 17 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100221518 100221518 + Missense_Mutation SNP G G C TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr11:100221518G>C ENST00000524871.1 + 24 3406 c.3116G>C c.(3115-3117)gGa>gCa p.G1039A CNTN5_ENST00000418526.2_Missense_Mutation_p.G965A|CNTN5_ENST00000279463.3_Missense_Mutation_p.G1039A|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.G1039A NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 1039 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CCAGATGCTGGAGTCTATATT 0.398000 12 18 0 0 1 0 0 ID4 3400 broad.mit.edu 37 6 19838858 19838858 + Nonstop_Mutation SNP G G C TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr6:19838858G>C ENST00000378700.3 + 2 854 c.485G>C c.(484-486)tGa>tCa p.*162S RP1-167F1.2_ENST00000432171.2_RNA NM_001546.3 NP_001537.1 P47928 ID4_HUMAN inhibitor of DNA binding 4, dominant negative helix-loop-helix protein 0 transcription corepressor activity lung(1) 1 Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12) OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621) CTGTGCCGCTGAGCCGCGCTG 0.672000 19 32 0 0 1 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74880293 74880293 + Missense_Mutation SNP G G A TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr11:74880293G>A ENST00000289575.5 + 5 919 c.524G>A c.(523-525)gGc>gAc p.G175D SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G59D|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G153D|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G31D NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 175 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) CCCTCCAATGGCAACTGCTCA 0.587000 3 40 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 5 171 0 0 1 0 0 TMEM143 55260 broad.mit.edu 37 19 48836571 48836571 + Missense_Mutation SNP C C T rs141028740 TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr19:48836571C>T ENST00000293261.3 - 8 1601 c.1285G>A c.(1285-1287)Gga>Aga p.G429R TMEM143_ENST00000435956.3_Missense_Mutation_p.G394R|TMEM143_ENST00000377431.2_Missense_Mutation_p.G329R|TMEM143_ENST00000541566.1_Missense_Mutation_p.G319R|TMEM143_ENST00000436660.2_Missense_Mutation_p.G364R NM_018273.2 NP_060743.2 Q96AN5 TM143_HUMAN transmembrane protein 143 429 integral to membrane|mitochondrion endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) GGGTACAATCCCATGCTGGGG 0.622000 17 61 0 0 1 0 0 FAM86FP 0 broad.mit.edu 37 12 8386973 8386973 + RNA SNP C C T TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr12:8386973C>T ENST00000427893.2 - 0 793 AGCCAGCCTCCGCAGGACCCC 0.592000 4 51 0 0 1 0 0 TRBV19 0 broad.mit.edu 37 7 142326961 142326961 + RNA SNP C C T rs78434792 TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr7:142326961C>T ENST00000390393.3 + 0 467 CAGCGTCTCTCGGGAGAAGAA 0.488000 10 111 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225721649 225721649 + Missense_Mutation SNP G G A TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr2:225721649G>A ENST00000409592.3 - 15 1831 c.1718C>T c.(1717-1719)tCa>tTa p.S573L DOCK10_ENST00000258390.7_Missense_Mutation_p.S579L Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 579 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AAACAATGGTGAAAATCTTGA 0.308000 6 8 0 0 1 0 0 MORC4 79710 broad.mit.edu 37 X 106224676 106224676 + Missense_Mutation SNP C C G TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chrX:106224676C>G ENST00000355610.4 - 6 980 c.706G>C c.(706-708)Gat>Cat p.D236H MORC4_ENST00000255495.7_Missense_Mutation_p.D236H|MORC4_ENST00000535534.1_5'UTR NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 236 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 TGATCTGTATCAAAGTCCAAC 0.383000 20 44 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72013900 72013900 + Missense_Mutation SNP C C T TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr12:72013900C>T ENST00000378743.3 - 26 5213 c.4855G>A c.(4855-4857)Gag>Aag p.E1619K NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1619 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ATTGCAGCCTCATACCTTAAC 0.353000 8 15 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5172741 5172741 + Missense_Mutation SNP G G A TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr11:5172741G>A ENST00000380367.1 - 2 1276 c.859C>T c.(859-861)Cct>Tct p.P287S OR52A1_ENST00000328942.1_Missense_Mutation_p.P287S Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 287 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAAATGGAGGGACCAGCAAG 0.408000 36 39 0 0 1 0 0 AFM 173 broad.mit.edu 37 4 74350072 74350072 + Missense_Mutation SNP G G A TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr4:74350072G>A ENST00000226355.3 + 3 328 c.235G>A c.(235-237)Gct>Act p.A79T NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 79 Albumin 1. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CAGATGTATGGCTGACAAGAC 0.373000 13 29 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156628485 156628485 + Missense_Mutation SNP G G A TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr1:156628485G>A ENST00000329117.4 + 13 2924 c.2588G>A c.(2587-2589)cGt>cAt p.R863H BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 863 Sushi. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GAGAACGGTCGTTGGGAGGCC 0.622000 4 78 0 0 1 0 0 TPBG 7162 broad.mit.edu 37 6 83074982 83074982 + Nonsense_Mutation SNP C C T TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr6:83074982C>T ENST00000369750.3 + 2 921 c.304C>T c.(304-306)Cag>Tag p.Q102* TPBG_ENST00000543496.1_Nonsense_Mutation_p.Q102*|TPBG_ENST00000535040.1_Nonsense_Mutation_p.Q102* Q13641 TPBG_HUMAN trophoblast glycoprotein 102 cell adhesion integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) TACCGGCAACCAGCTGGCCGT 0.721000 13 17 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195395399 195395399 + RNA SNP G G A rs62287990 by1000genomes TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr3:195395399G>A ENST00000445430.1 + 0 806 GGCTACGGGCGCACCTACTTG 0.607000 5 40 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f 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 15 31 0 0 1 0 0 RBM43 375287 broad.mit.edu 37 2 152108098 152108098 + Silent SNP C C T TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr2:152108098C>T ENST00000331426.5 - 4 547 c.396G>A c.(394-396)ctG>ctA p.L132L NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 132 nucleotide binding|RNA binding endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) TTTTTTTTTTCAGGTCTTTTA 0.378000 19 37 0 0 1 0 0 KLC4 89953 broad.mit.edu 37 6 43039904 43039904 + Missense_Mutation SNP C C G TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr6:43039904C>G ENST00000394056.2 + 13 1894 c.1399C>G c.(1399-1401)Ctg>Gtg p.L467V KLC4_ENST00000347162.5_Missense_Mutation_p.L467V|KLC4_ENST00000479388.1_Missense_Mutation_p.L467V|KLC4_ENST00000394058.1_Missense_Mutation_p.L467V|KLC4_ENST00000453940.2_Missense_Mutation_p.L390V|KLC4_ENST00000259708.3_Missense_Mutation_p.L485V Q9NSK0 KLC4_HUMAN kinesin light chain 4 467 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) GAACACTACTCTGAGAAACCT 0.532000 27 38 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33589390 33589391 + Frame_Shift_Ins INS - - A TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr2:33589390_33589391insA ENST00000404816.2 + 30 4860_4861 c.4507_4508insA c.(4507-4509)aaafs p.K1503fs LTBP1_ENST00000418533.2_Frame_Shift_Ins_p.K1135fs|LTBP1_ENST00000272273.5_Frame_Shift_Ins_p.K401fs|LTBP1_ENST00000402934.1_Frame_Shift_Ins_p.K1122fs|LTBP1_ENST00000407925.1_Frame_Shift_Ins_p.K1177fs|LTBP1_ENST00000404525.1_Frame_Shift_Ins_p.K1124fs|LTBP1_ENST00000354476.3_Frame_Shift_Ins_p.K1504fs|LTBP1_ENST00000390003.4_Frame_Shift_Ins_p.K1178fs Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1503 EGF-like 16; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGATGCGTCAGAAAAAAGATGT 0.421 11 27 --- --- --- --- MUC5B 727897 broad.mit.edu 37 11 1282791 1282791 + Frame_Shift_Del DEL C C - TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr11:1282791delC ENST00000447027.1 + 49 17309 c.17251delC c.(17251-17253)ccfs p.P5752fs MUC5B_ENST00000529681.1_Frame_Shift_Del_p.P5749fs Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 5749 cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCCCATGGCTCCCCCACACAC 0.637 3 6 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-EM-A3SX-01A-11D-A22Z-08 TCGA-EM-A3SX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c459dd6-3c2d-4180-a215-670b1120f3b2 a3f5c321-522d-4612-afeb-602eb0c19a0f g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 3 4 --- --- --- ---