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 DNAH1 25981 broad.mit.edu 37 3 52383001 52383001 + Missense_Mutation SNP G G A TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr3:52383001G>A ENST00000420323.2 + 13 2465 c.2204G>A c.(2203-2205)aGt>aAt p.S735N NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 735 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACCATTGCCAGTGCCGTGTCC 0.577000 4 87 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3441340 3441340 + Missense_Mutation SNP C C T TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr4:3441340C>T ENST00000344733.5 + 18 5177 c.4273C>T c.(4273-4275)Cct>Tct p.P1425S RGS12_ENST00000338806.4_Missense_Mutation_p.P777S NM_198229.2 NP_937872.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1425 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ATCAGACCTCCCTGGCTTGGG 0.692000 3 25 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 43 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671241 45671241 + Silent SNP C C G rs7115779 byFrequency TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr11:45671241C>G ENST00000308064.2 - 4 1903 c.1233G>C c.(1231-1233)tcG>tcC p.S411S NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 411 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GCCCGGGTCACGAGAAGGGGC 0.627000 6 151 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 81 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 81 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62324223 62324223 + Missense_Mutation SNP G G T TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr20:62324223G>T ENST00000318100.4 + 29 3545 c.2718G>T c.(2716-2718)gaG>gaT p.E906D RTEL1_ENST00000370003.1_Missense_Mutation_p.E151D|RTEL1_ENST00000370018.3_Missense_Mutation_p.E906D|RTEL1_ENST00000360203.5_Missense_Mutation_p.E906D|RTEL1_ENST00000508582.2_Missense_Mutation_p.E930D|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.E906D Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 906 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) TGAAGCAGGAGTTGAGCCAAG 0.647000 6 151 2.0095e-06 2.18174e-06 1 1 0 HCP5 0 broad.mit.edu 37 6 31431874 31431874 + RNA SNP G G T rs116422878 byFrequency TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr6:31431874G>T ENST00000414046.2 + 0 946 NR_040662.1 Q6MZN7 HCP5_HUMAN defense response urinary_tract(1) 1 tgcagagtgtggttttgggag 0.507000 4 72 0.00024832 0.000262116 1 1 0 OR5T2 219464 broad.mit.edu 37 11 56000210 56000210 + Missense_Mutation SNP C C T TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr11:56000210C>T ENST00000313264.4 - 1 527 c.452G>A c.(451-453)tGc>tAc p.C151Y NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) CAAGAGAAAGCATTCTGTGGT 0.418000 59 85 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chrX:73811938G>C ENST00000332687.6 - 4 1430 c.1212C>G c.(1210-1212)acC>acG p.T404T RLIM_ENST00000349225.2_Silent_p.T404T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.T404T(6) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTAACATGGTCTGAATTG 0.413000 7 141 0 0 1 0 0 HDAC10 83933 broad.mit.edu 37 22 50686833 50686833 + Silent SNP C C T TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr22:50686833C>T ENST00000216271.5 - 11 1327 c.975G>A c.(973-975)ccG>ccA p.P325P MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Silent_p.P275P|HDAC10_ENST00000349505.4_Silent_p.P305P|HDAC10_ENST00000498366.1_5'UTR NM_001159286.1|NM_032019.5 NP_001152758.1|NP_114408.3 Q969S8 HDA10_HUMAN histone deacetylase 10 325 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific) endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGGGTGGGGCCGGGTCACCCA 0.657000 8 52 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18778612 18778612 + RNA SNP C C T rs1055042 by1000genomes TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr22:18778612C>T ENST00000412448.1 - 0 793 GCGGCCACGGCAGCCCTGGTG 0.637000 3 26 0 0 1 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71187160 71187160 + Silent SNP C C T TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr2:71187160C>T ENST00000234396.4 + 6 610 c.537C>T c.(535-537)cgC>cgT p.R179R AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Silent_p.R179R NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 179 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism p.R179R(1) endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 GCATTGCCCGCGGCCAGAAGA 0.627000 27 55 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112969645 112969645 + Missense_Mutation SNP C C T TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr3:112969645C>T ENST00000495514.1 + 4 1045 c.341C>T c.(340-342)gCt>gTt p.A114V BOC_ENST00000273395.4_Missense_Mutation_p.A114V|BOC_ENST00000485230.1_Missense_Mutation_p.A114V|BOC_ENST00000355385.3_Missense_Mutation_p.A114V|BOC_ENST00000484034.1_Missense_Mutation_p.A114V Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 114 Ig-like C2-type 1. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) CCTGCGGGGGCTGTGGCCAGC 0.637000 4 54 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57579590 57579590 + Missense_Mutation SNP C C T rs140707279 by1000genomes TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr12:57579590C>T ENST00000243077.3 + 41 7206 c.6740C>T c.(6739-6741)aCc>aTc p.T2247I NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2247 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CGGGCAGGCACCTCTCCGGGC 0.582000 4 78 0 0 1 0 0 WBSCR27 155368 broad.mit.edu 37 7 73249155 73249155 + Missense_Mutation SNP G G A rs141298816 byFrequency TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr7:73249155G>A ENST00000297873.4 - 6 705 c.656C>T c.(655-657)cCg>cTg p.P219L NM_152559.2 NP_689772.2 Q8N6F8 WBS27_HUMAN Williams Beuren syndrome chromosome region 27 219 NS(1)|central_nervous_system(1)|lung(2)|prostate(1) 5 Lung NSC(55;0.159) CAGAGATGCCGGATACCACCT 0.637000 4 93 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15579 15579 + Missense_Mutation SNP A A G TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chrM:15579A>G ENST00000361789.2 + 1 833 c.833A>G c.(832-834)tAc>tGc p.278_278insC mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 CCTATTCGCCTACACAATTCT 0.483000 OREG0007583 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 14 2 0 0 1 0 0 FBXL14 144699 broad.mit.edu 37 12 1703090 1703090 + Missense_Mutation SNP A A C TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr12:1703090A>C ENST00000339235.3 - 1 241 c.143T>G c.(142-144)gTg>gGg p.V48G WNT5B_ENST00000537031.1_Intron NM_152441.2 NP_689654.1 Q8N1E6 FXL14_HUMAN F-box and leucine-rich repeat protein 14 48 F-box.|Required for down-regulation of SNAI1. cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 8 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00115) CTTGGCCTCCACCCCCCGCCA 0.731000 4 9 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413693 178413693 + Missense_Mutation SNP G G A TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr5:178413693G>A ENST00000231188.5 - 8 1740 c.1562C>T c.(1561-1563)cCc>cTc p.P521L RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P521L NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 521 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CGGCCCGCAGGGCAGGCTGCA 0.677000 4 73 0 0 1 0 0 PRR5-ARHGAP8 0 broad.mit.edu 37 22 45244819 45244819 + Silent SNP C C T TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr22:45244819C>T ENST00000352766.7 + 15 1386 c.1386C>T c.(1384-1386)ccC>ccT p.P462P ARHGAP8_ENST00000517296.3_Silent_p.P462P|ARHGAP8_ENST00000336963.4_Silent_p.P252P|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.P383P|ARHGAP8_ENST00000356099.6_Silent_p.P252P|ARHGAP8_ENST00000389774.2_Silent_p.P283P|ARHGAP8_ENST00000389773.5_Silent_p.P374P breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 CAGGGAAGCCCGTGAACTTTG 0.617000 66 97 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe 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 35 42 0 0 1 0 0 ZFP36L2 678 broad.mit.edu 37 2 43452123 43452123 + Missense_Mutation SNP G G A TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr2:43452123G>A ENST00000282388.3 - 2 1113 c.820C>T c.(820-822)Ctc>Ttc p.L274F THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 274 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) GGCGACTCGAGGCCGCCCGGG 0.731000 26 17 0 0 1 0 0 KIF12 113220 broad.mit.edu 37 9 116854714 116854714 + Missense_Mutation SNP G G C rs147277754 byFrequency TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr9:116854714G>C ENST00000374118.3 - 15 1538 c.1301C>G c.(1300-1302)aCt>aGt p.T434S NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 567 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 TCGGGTCTGAGTCCAGTCACT 0.617000 5 79 0 0 1 0 0 MSH3 4437 broad.mit.edu 37 5 79950742 79950750 + In_Frame_Del DEL CCCCCAGCT CCCCCAGCT - rs3045983 TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr5:79950742_79950750delCCCCCAGCT ENST00000265081.6 + 1 276_284 c.196_204delCCCCCAGCT c.(196-204)del p.PPA66del DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 66 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) gCCCCCAGCGCCCCCAGCTCCCGCCTTCC 0.732 Mismatch excision repair (MMR) 10 5 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 5 6 --- --- --- --- PPM1E 22843 broad.mit.edu 37 17 56833644 56833646 + In_Frame_Del DEL GAG GAG - TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr17:56833644_56833646delGAG ENST00000308249.2 + 1 415_417 c.286_288delGAG c.(286-288)del p.E100del NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 100 Glu-rich.|Pro-rich. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) ggttgagggtgaggaggaggagg 0.783 3 5 --- --- --- ---