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 BMP6 654 broad.mit.edu 37 6 7862663 7862663 + Missense_Mutation SNP G G A TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr6:7862663G>A ENST00000283147.6 + 4 1295 c.1136G>A c.(1135-1137)cGg>cAg p.R379Q NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 379 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) GCCTCCAGCCGGCGCCGACAA 0.607000 8 136 0 0 1 0 0 DHX36 170506 broad.mit.edu 37 3 154033843 154033843 + Missense_Mutation SNP G G C TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr3:154033843G>C ENST00000496811.1 - 2 433 c.353C>G c.(352-354)gCt>gGt p.A118G DHX36_ENST00000308361.6_Missense_Mutation_p.A118G|DHX36_ENST00000544526.1_Missense_Mutation_p.A118G|DHX36_ENST00000329463.5_Missense_Mutation_p.A118G NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 118 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) ATCCTCAGGAGCAAACCAGGA 0.333000 12 53 0 0 1 0 0 GZF1 64412 broad.mit.edu 37 20 23349552 23349552 + Missense_Mutation SNP T T C TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr20:23349552T>C ENST00000338121.5 + 4 1690 c.1613T>C c.(1612-1614)aTt>aCt p.I538T GZF1_ENST00000377051.2_Missense_Mutation_p.I538T|GZF1_ENST00000542987.1_Missense_Mutation_p.I47T|GZF1_ENST00000544236.1_Missense_Mutation_p.I62T Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 538 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TACCAGCATATTAAAGTCCAC 0.378000 24 158 0 0 1 0 0 THAP7-AS1 0 broad.mit.edu 37 22 21363306 21363306 + RNA SNP G G A rs2075274 by1000genomes TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr22:21363306G>A ENST00000452284.1 + 0 973 TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA NR_027051.1 GATGACCAGGGCGTAGGTGGC 0.582000 5 107 0 0 1 0 0 PSAP 5660 broad.mit.edu 37 10 73587777 73587777 + Silent SNP G G A rs141199649 byFrequency TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr10:73587777G>A ENST00000394936.3 - 6 861 c.714C>T c.(712-714)gcC>gcT p.A238A PSAP_ENST00000394934.1_Silent_p.A238A P07602 SAP_HUMAN prosaposin 238 Saposin B-type 2. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 TCACTATGTCGGCCATGCCAG 0.572000 6 79 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124887093 124887093 + Silent SNP C C T TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr12:124887093C>T ENST00000356219.3 - 15 1652 c.1497G>A c.(1495-1497)caG>caA p.Q499Q NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 499 Poly-Gln. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity p.Q499Q(9) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) gctgctgctgctgttgttgct 0.617000 3 13 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 5 43 0 0 1 0 0 OR4S1 256148 broad.mit.edu 37 11 48328468 48328468 + Missense_Mutation SNP C C T TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr11:48328468C>T ENST00000319988.1 + 1 694 c.694C>T c.(694-696)Cgt>Tgt p.R232C NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TGAGGACCGGCGTAAGGCTGT 0.478000 9 269 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145324377 145324377 + Missense_Mutation SNP C C A TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr1:145324377C>A ENST00000342960.5 + 28 3607 c.3572C>A c.(3571-3573)gCg>gAg p.A1191E NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1191 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GAGGTAGTAGCGCCTGAAGTC 0.483000 3 4 6.4e-05 6.4e-05 1 1 0 PRR12 57479 broad.mit.edu 37 19 50100109 50100109 + Silent SNP A A C TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr19:50100109A>C ENST00000418929.2 + 4 2529 c.2517A>C c.(2515-2517)ccA>ccC p.P839P NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 18 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CTCCACCGCCACCCCCGCCTC 0.741000 4 10 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18778612 18778612 + RNA SNP C C T rs1055042 by1000genomes TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr22:18778612C>T ENST00000412448.1 - 0 793 GCGGCCACGGCAGCCCTGGTG 0.637000 3 18 0 0 1 0 0 DERL1 79139 broad.mit.edu 37 8 124034940 124034940 + Missense_Mutation SNP A A G TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr8:124034940A>G ENST00000259512.4 - 5 737 c.437T>C c.(436-438)tTt>tCt p.F146S DERL1_ENST00000419562.2_Intron|DERL1_ENST00000405944.3_Missense_Mutation_p.F146S|DERL1_ENST00000523036.1_Missense_Mutation_p.F46S|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000519018.1_Missense_Mutation_p.F46S NM_001134671.1|NM_024295.4 NP_001128143.1|NP_077271.1 Q9BUN8 DERL1_HUMAN derlin 1 146 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane MHC class I protein binding|receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 8 Lung NSC(37;1.06e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TCGTGTTCCAAACCAAAATGA 0.413000 OREG0018957 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 82 164 0 0 1 0 0 TMEM246 84302 broad.mit.edu 37 9 104238214 104238214 + Silent SNP G G A TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr9:104238214G>A ENST00000374851.1 - 4 2308 c.1161C>T c.(1159-1161)caC>caT p.H387H TMEM246_ENST00000374848.3_Silent_p.H387H|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374847.1_Silent_p.H387H Q9BRR3 CI125_HUMAN transmembrane protein 246 387 integral to membrane AGAGCCCGATGTGTTTCACGA 0.527000 24 130 0 0 1 0 0 STXBP1 6812 broad.mit.edu 37 9 130374691 130374691 + Silent SNP C C G TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr9:130374691C>G ENST00000373302.3 + 1 148 c.9C>G c.(7-9)ccC>ccG p.P3P STXBP1_ENST00000373299.1_Silent_p.P3P NM_003165.3 NP_003156.1 P61764 STXB1_HUMAN syntaxin binding protein 1 3 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2) 23 CCATGGCCCCCATTGGCCTCA 0.741000 2 14 0 0 1 0 0 ANKRD36BP2 0 broad.mit.edu 37 2 89084114 89084114 + RNA SNP G G A TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr2:89084114G>A ENST00000393525.3 + 0 576 TTGCTTTTCAGTGTCTTCTCA 0.313000 5 121 0 0 1 0 0 APOL2 23780 broad.mit.edu 37 22 36623751 36623751 + Missense_Mutation SNP G G A TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr22:36623751G>A ENST00000249066.6 - 6 1189 c.713C>T c.(712-714)gCg>gTg p.A238V APOL2_ENST00000451256.2_Missense_Mutation_p.A350V|APOL2_ENST00000358502.5_Missense_Mutation_p.A238V NM_145637.1 NP_663612.1 Q9BQE5 APOL2_HUMAN apolipoprotein L, 2 238 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9 TGGGGCATACGCTCCTAACTG 0.542000 100 135 0 0 1 0 0 VPS4B 9525 broad.mit.edu 37 18 61077535 61077535 + Missense_Mutation SNP G G A TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr18:61077535G>A ENST00000238497.5 - 3 487 c.284C>T c.(283-285)gCa>gTa p.A95V VPS4B_ENST00000591519.1_Missense_Mutation_p.A95V NM_004869.3 NP_004860.2 O75351 VPS4B_HUMAN vacuolar protein sorting 4 homolog B (S. cerevisiae) 95 cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 13 CTTCTCATCTGCTGGACTCGG 0.358000 110 187 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb 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 91 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140777318 140777318 + Silent SNP C C T TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr9:140777318C>T ENST00000371372.1 + 3 658 c.513C>T c.(511-513)ttC>ttT p.F171F CACNA1B_ENST00000371355.4_Silent_p.F171F|CACNA1B_ENST00000371357.1_Silent_p.F171F|CACNA1B_ENST00000371363.1_Silent_p.F171F|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277551.2_Silent_p.F171F|CACNA1B_ENST00000277549.5_5'UTR NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 171 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCATGGACTTCGTGGTCGTCC 0.607000 25 350 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102516473 102516473 + RNA SNP G G A TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr15:102516473G>A ENST00000557932.1 + 0 1421 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 ATCCTAGGGGGCTCCATGACA 0.642000 6 88 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75884986 75884986 + Silent SNP C C T TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr6:75884986C>T ENST00000322507.8 - 13 2787 c.2478G>A c.(2476-2478)acG>acA p.T826T COL12A1_ENST00000416123.2_Silent_p.T826T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.T826T NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 826 Fibronectin type-III 5. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TAGTAGACGTCGTAGGGTCAG 0.393000 15 122 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83173135 83173135 + Splice_Site DEL C C - TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr11:83173135delC ENST00000398309.2 - 22 2886 c.2414_splice c.e22-1 p.E806_splice DLG2_ENST00000543673.1_Splice_Site_p.E911_splice|DLG2_ENST00000418306.2_Splice_Site_p.E685_splice|DLG2_ENST00000531015.1_Splice_Site_p.E773_splice|DLG2_ENST00000426717.2_Splice_Site_p.E270_splice|DLG2_ENST00000376104.2_Splice_Site_p.E911_splice|DLG2_ENST00000376106.3_Splice_Site_p.E270_splice|DLG2_ENST00000537455.1_Splice_Site_p.E556_splice|DLG2_ENST00000330014.6_Splice_Site_p.E727_splice|DLG2_ENST00000280241.8_Splice_Site_p.E845_splice|DLG2_ENST00000404783.3_Splice_Site_p.E284_splice|DLG2_ENST00000524982.1_Splice_Site_p.E802_splice|DLG2_ENST00000532653.1_Splice_Site_p.E788_splice NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 806 Guanylate kinase-like. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TTATTCATCTCCCTGGGAAAA 0.333 7 142 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 4 5 --- --- --- ---