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 MSH2 4436 broad.mit.edu 37 2 47656952 47656952 + Missense_Mutation SNP G G T TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr2:47656952G>T uc002rvz.3 + 6 1216 c.1148G>T c.(1147-1149)cGa>cTa p.R383L MSH2_uc010yoh.1_Missense_Mutation_p.R317L|MSH2_uc002rvy.1_Missense_Mutation_p.R383L|MSH2_uc010fbg.2_Missense_Mutation_p.R193L NM_000251 NP_000242 P43246 MSH2_HUMAN Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA. 383 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding p.0?(2)|p.?(2)|p.R383*(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTACTTCGTCGATTCCCAGAT 0.343000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 37 74 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 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 37 70 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656897 40656897 + Missense_Mutation SNP G G A TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr2:40656897G>A uc002rrx.3 - 0 548 c.524C>T c.(523-525)gCt>gTt p.A175V SLC8A1_uc002rry.3_Missense_Mutation_p.A175V|SLC8A1_uc002rsb.2_Missense_Mutation_p.A175V|SLC8A1_uc002rrz.3_Missense_Mutation_p.A175V|SLC8A1_uc002rsa.3_Missense_Mutation_p.A175V|SLC8A1_uc002rsd.4_Missense_Mutation_p.A175V|SLC8A1_uc010fan.1_Missense_Mutation_p.A175V|SLC8A1_uc002rsc.1_Missense_Mutation_p.A175V NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 175 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ATTGAATGCAGCACTTCCCAC 0.463000 3 77 0 0 1 0 0 PPP4C 5531 broad.mit.edu 37 16 30095000 30095000 + Missense_Mutation SNP T T C TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr16:30095000T>C uc002dwe.3 + 6 637 c.502T>C c.(502-504)Tcc>Ccc p.S168P BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Missense_Mutation_p.S168P NM_002720 NP_002711 P60510 PP4C_HUMAN Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA. 168 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus NF-kappaB-inducing kinase activity|metal ion binding|protein binding|protein serine/threonine phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1) 9 CGGGGGCCTCTCCCCCTCCAT 0.622000 3 135 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27529319 27529319 + Missense_Mutation SNP G G A TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr10:27529319G>A uc010qdp.2 - 1 301 c.110C>T c.(109-111)gCg>gTg p.A37V ACBD5_uc010qdm.2_Missense_Mutation_p.A35V|ACBD5_uc010qdn.2_5'UTR|ACBD5_uc010qdo.2_5'UTR|ACBD5_uc001ito.3_Missense_Mutation_p.A2V|ACBD5_uc001itp.3_5'UTR|ACBD5_uc001itq.3_5'UTR|ACBD5_uc001itr.1_5'UTR NM_145698 NP_001035938 Q5T8D3 ACBD5_HUMAN Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 1, mRNA. 35 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 TCTCGTGTCCGCCATCTCCAG 0.612000 4 120 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37771091 37771091 + Missense_Mutation SNP G G T TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr22:37771091G>T uc003asq.4 - 2 1270 c.484C>A c.(484-486)Cgc>Agc p.R162S ELFN2_uc021wph.1_Missense_Mutation_p.R162S NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA. 162 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) CGGCTGAGGCGGTTGGAGGAC 0.637000 65 105 0 0 1 0 0 NRG2 9542 broad.mit.edu 37 5 139260543 139260543 + Nonsense_Mutation SNP G G A TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr5:139260543G>A uc003lev.2 - 2 1119 c.889C>T c.(889-891)Cag>Tag p.Q297* NRG2_uc003lew.2_Nonsense_Mutation_p.Q297*|NRG2_uc003lex.2_Nonsense_Mutation_p.Q297*|NRG2_uc003ley.2_Nonsense_Mutation_p.Q297*|NRG2_uc021yed.1_Nonsense_Mutation_p.Q297* NM_013982 NP_053585 O14511 NRG2_HUMAN Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA. 297 Ig-like C2-type. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTTGAACTGTAGTCGTGAG 0.612000 5 104 0 0 1 0 0 ESX1 80712 broad.mit.edu 37 X 103495055 103495055 + Missense_Mutation SNP G G A TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chrX:103495055G>A uc004ely.3 - 3 1144 c.1075C>T c.(1075-1077)Ccc>Tcc p.P359S NM_153448 NP_703149 Q8N693 ESX1_HUMAN Homo sapiens ESX homeobox 1 (ESX1), mRNA. 359 15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 GGCGGCCCGGGTGGCAGAGGC 0.756000 5 9 0 0 1 0 0 HIST1H2BC 8347 broad.mit.edu 37 6 26124113 26124113 + Missense_Mutation SNP G G C TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr6:26124113G>C uc003ngk.4 - 0 42 c.20C>G c.(19-21)tCt>tGt p.S7C HIST1H2BC_uc003ngl.3_Missense_Mutation_p.S7C|HIST1H2AC_uc003ngm.3_5'Flank|HIST1H2AC_uc003ngo.3_5'Flank NM_003526 NP_003517 P62807 H2B1C_HUMAN Homo sapiens histone cluster 1, H2bc (HIST1H2BC), mRNA. 7 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.K6N(1) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 16 GGCGGGAGCAGACTTGGCTGG 0.507000 54 77 0 0 1 0 0 PODXL 5420 broad.mit.edu 37 7 131195717 131195717 + Silent SNP G G A TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr7:131195717G>A uc003vqw.4 - 1 834 c.576C>T c.(574-576)ccC>ccT p.P192P PODXL_uc003vqx.4_Silent_p.P192P NM_001018111 NP_001018121 O00592 PODXL_HUMAN Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA. 192 Thr-rich. cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) GCGTCGAAGTGGGTTGTCGGG 0.542000 37 77 0 0 1 0 0 LEFTY1 10637 broad.mit.edu 37 1 226075322 226075322 + Nonsense_Mutation SNP C C A TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr1:226075322C>A uc001hpo.3 - 2 594 c.514G>T c.(514-516)Gag>Tag p.E172* PYCR2_uc010pvj.2_Missense_Mutation_p.R280L|LEFTY1_uc009xej.2_3'UTR NM_020997 NP_066277 O75610 LFTY1_HUMAN Homo sapiens left-right determination factor 1 (LEFTY1), mRNA. 172 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding p.E172D(1) cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 10 Breast(184;0.197) CAGCCGCTCTCGTGGACGGAC 0.711000 3 63 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113860392 113860392 + Silent SNP G G T TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr11:113860392G>T uc010rxb.2 + 7 1691 c.1458G>T c.(1456-1458)gtG>gtT p.V486V HTR3A_uc010rxa.2_Silent_p.V454V|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.V433V NM_213621 NP_998786 P46098 5HT3A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA. 448 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) TGGGCTCCGTGCTGGACAAGC 0.592000 56 120 0 0 1 0 0 BOLA2 552900 broad.mit.edu 37 16 29557545 29557546 + Frame_Shift_Del DEL TC TC - TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr16:29557545_29557546delTC uc010bzb.1 - 3 1140_1141 c.253_254delGA c.(253-255)gaafs p.E85fs LOC440354_uc002dsp.3_Intron|LOC440354_uc010bza.1_Non-coding_Transcript|LOC440354_uc002dtj.2_Non-coding_Transcript Q9H3K6 BOLA2_HUMAN Homo sapiens bolA homolog 2 (E. coli) (BOLA2), mRNA. 0 AAACAGTTTTTCTACAAATGAT 0.272 2 4 --- --- --- ---