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 DSCAM 1826 broad.mit.edu 37 21 41711101 41711101 + Silent SNP G G A TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr21:41711101G>A uc002yyq.1 - 6 1904 c.1452C>T c.(1450-1452)tgC>tgT p.C484C DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 484 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGTTGGCAGTGCAGCGGTAGA 0.547000 22 44 0 0 1 0 0 MRPL41 64975 broad.mit.edu 37 9 140446894 140446894 + Missense_Mutation SNP C C T TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr9:140446894C>T uc004cnh.4 + 1 491 c.361C>T c.(361-363)Ccc>Tcc p.P121S PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank|MRPL41_uc022bqj.1_Missense_Mutation_p.P121S NM_032477 NP_115866 Q8IXM3 RM41_HUMAN Homo sapiens mitochondrial ribosomal protein L41 (MRPL41), nuclear gene encoding mitochondrial protein, mRNA. 121 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome breast(1)|lung(1) 2 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) CGGCTTCGAGCCCACACAGGA 0.602000 10 26 0 0 1 0 0 KAT2A 2648 broad.mit.edu 37 17 40269530 40269530 + Missense_Mutation SNP C C T TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr17:40269530C>T uc002hyx.2 - 9 1573 c.1513G>A c.(1513-1515)Ggc>Agc p.G505S NM_021078 NP_066564 Q92830 KAT2A_HUMAN Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA. 505 N-acetyltransferase. chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 AGTGAGTTGCCGATGACATGG 0.637000 21 29 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33291666 33291666 + Silent SNP A A G TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr14:33291666A>G uc001wrq.3 + 12 4817 c.4647A>G c.(4645-4647)acA>acG p.T1549T NM_004274 NP_004265 Q13023 AKAP6_HUMAN Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA. 1549 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TAGAAAAGACATTCACTGGCA 0.413000 8 123 0 0 1 0 0 GATA5 140628 broad.mit.edu 37 20 61039965 61039965 + Missense_Mutation SNP G G A TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr20:61039965G>A uc002ycx.1 - 6 1183 c.1121C>T c.(1120-1122)aCg>aTg p.T374M NM_080473 NP_536721 Q9BWX5 GATA5_HUMAN Homo sapiens GATA binding protein 5 (GATA5), mRNA. 374 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding kidney(1)|lung(3)|ovary(1)|stomach(1) 6 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) GCTTGGGGCCGTGGAGGGGAA 0.677000 3 31 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41979174 41979174 + Silent SNP G G A rs141816288 TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr1:41979174G>A uc001cgz.4 - 7 6931 c.5718C>T c.(5716-5718)ccC>ccT p.P1906P HIVEP3_uc001cha.4_Silent_p.P1906P|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 1906 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGCCAGAGGCGGGGGCATCTG 0.692000 8 7 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 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 25 50 0 0 1 0 0 CNN2 1265 broad.mit.edu 37 19 1037875 1037875 + Nonsense_Mutation SNP C C G TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr19:1037875C>G uc010xgc.2 + 6 1332 c.969C>G c.(967-969)taC>taG p.Y323* ABCA7_uc002lqw.4_5'Flank|CNN2_uc002lqu.3_Nonsense_Mutation_p.Y302*|CNN2_uc002lqv.3_Nonsense_Mutation_p.Y263*|CNN2_uc010xgb.2_Nonsense_Mutation_p.Y291*|ABCA7_uc010dsa.3_5'Flank NM_004368 NP_004359 Q99439 CNN2_HUMAN Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA. 302 actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATCCCCCTTACTACCAGGAGG 0.602000 27 62 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92760593 92760596 + Frame_Shift_Del DEL TCTT TCTT - TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr7:92760593_92760596delTCTT uc003umh.1 - 4 5905_5908 c.4689_4692delAAGA c.(4687-4692)gaaagafs p.E1563fs SAMD9L_uc003umj.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc003umi.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc010lfb.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc003umk.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc010lfc.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc010lfd.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc022ahh.1_Frame_Shift_Del_p.E1563fs NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 1563 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AGAAAGACACTCTTTCTATGTTCC 0.343 20 31 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72827620 72827621 + Frame_Shift_Ins INS - - T TCGA-EL-A3CL-01A-11D-A19J-08 TCGA-EL-A3CL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803f5ae9-126f-4e21-b3a0-881513ff137d 6ecb9b78-a40b-4bc9-b4cb-6687daeed335 g.chr16:72827620_72827621insT uc002fck.3 - 8 9633_9634 c.8960_8961insA c.(8959-8961)aagfs p.K2987fs ZFHX3_uc002fcl.3_Frame_Shift_Ins_p.K2073fs NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 2987 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GAACGACTCTCTTTGGCAGTCC 0.465 44 90 --- --- --- ---