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 SLC8A3 6547 broad.mit.edu 37 14 70634771 70634771 + Silent SNP T T A TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr14:70634771T>A uc001xly.3 - 1 1123 c.369A>T c.(367-369)acA>acT p.T123T SLC8A3_uc001xlw.3_Silent_p.T123T|SLC8A3_uc001xlx.3_Silent_p.T123T|SLC8A3_uc001xlz.3_Silent_p.T123T|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 123 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GAATAGTGGTTGTGCTGGTTT 0.488000 12 43 0 0 1 0 0 LRRC17 10234 broad.mit.edu 37 7 102574783 102574783 + Missense_Mutation SNP C C G TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr7:102574783C>G uc003vau.3 + 1 812 c.423C>G c.(421-423)atC>atG p.I141M FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Missense_Mutation_p.I141M NM_001031692 NP_001026862 Q8N6Y2 LRC17_HUMAN Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA. 141 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 ACAACCAGATCAAAGTCTTGA 0.448000 6 83 0 0 1 0 0 FLOT2 2319 broad.mit.edu 37 17 27209047 27209047 + Splice_Site SNP C C A TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr17:27209047C>A uc002hdc.3 - 8 823 c.700_splice c.e8-1 p.T234_splice NM_004475 NP_004466 Q14254 FLOT2_HUMAN Homo sapiens flotillin 2 (FLOT2), mRNA. 234 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) CCTCAGCTGTCTGTGGCAAGA 0.567000 5 52 0 0 1 0 0 BBS12 166379 broad.mit.edu 37 4 123664933 123664933 + Missense_Mutation SNP C C G TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr4:123664933C>G uc021xrm.1 + 2 2267 c.1886C>G c.(1885-1887)tCt>tGt p.S629C BBS12_uc003ieu.3_Missense_Mutation_p.S629C|BBS12_uc021xrn.1_Missense_Mutation_p.S629C NM_001178007 NP_689831 Q6ZW61 BBS12_HUMAN Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA. 629 cellular protein metabolic process cilium ATP binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 GCCACAGACTCTGGCTCTCCT 0.348000 Bardet-Biedl syndrome 17 61 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76751735 76751735 + Missense_Mutation SNP C C T rs147225489 byFrequency TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr6:76751735C>T uc003pik.1 - 1 306 c.176G>A c.(175-177)cGa>cAa p.R59Q NM_001563 NP_001554 Q17R60 IMPG1_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA. 59 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) ATCGAATATTCGTCTCATAGT 0.358000 40 81 0 0 1 0 0 DGCR2 9993 broad.mit.edu 37 22 19028788 19028788 + Silent SNP G G A TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr22:19028788G>A uc002zoq.1 - 8 1427 c.1179C>T c.(1177-1179)ggC>ggT p.G393G DGCR2_uc021wkx.1_Silent_p.G390G|DGCR2_uc021wky.1_Silent_p.G352G|DGCR2_uc021wkz.1_Silent_p.G169G|DGCR2_uc011agr.1_Silent_p.G349G|DGCR2_uc002zor.1_Silent_p.G169G NM_005137 NP_005128 P98153 IDD_HUMAN Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA. 393 cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) GGATCCTGCGGCCGAGGTTGA 0.622000 25 59 0 0 1 0 0 CRYM 1428 broad.mit.edu 37 16 21272640 21272640 + Missense_Mutation SNP A A T TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr16:21272640A>T uc002dim.3 - 8 1113 c.815T>A c.(814-816)cTg>cAg p.L272Q CRYM_uc010bwq.1_Non-coding_Transcript|CRYM_uc002dil.3_Missense_Mutation_p.L230Q NM_001888 NP_001014444 Q14894 CRYM_HUMAN Homo sapiens crystallin, mu (CRYM), transcript variant 1, mRNA. 272 negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport cytoplasm|nucleus|plasma membrane NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity large_intestine(1)|lung(3) 4 GBM - Glioblastoma multiforme(48;0.0573) Levothyroxine(DB00451) CACTTCTCCCAGCTCAGCAAA 0.507000 10 35 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 24 79 0 0 1 0 0 CKAP4 10970 broad.mit.edu 37 12 106633705 106633705 + Silent SNP G G A TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr12:106633705G>A uc001tlk.3 - 1 990 c.906C>T c.(904-906)tcC>tcT p.S302S NM_006825 NP_006816 Q07065 CKAP4_HUMAN Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA. 302 ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1) 20 CCCACTCTCTGGACTTGGCTG 0.537000 24 136 0 0 1 0 0