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 SRGAP3 9901 broad.mit.edu 37 3 9101882 9101882 + Silent SNP C C T TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr3:9101882C>T uc003brk.3 - 5 1510 c.834G>A c.(832-834)agG>agA p.R278R SRGAP3_uc003brf.1_Intron|SRGAP3_uc003brg.1_Intron|SRGAP3_uc003bri.1_Intron|SRGAP3_uc003brj.1_Intron O43295 SRGP2_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 2, mRNA. 0 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TGGTGTGGGCCCTGCTCAGTC 0.547000 T RAF1 pilocytic astrocytoma 24 32 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154395925 154395925 + Missense_Mutation SNP G G A TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr5:154395925G>A uc010jih.1 + 0 2666 c.2506G>A c.(2506-2508)Gac>Aac p.D836N NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 836 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCAGATTGCTGACCTACAGCA 0.443000 13 29 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101794169 101794169 + Missense_Mutation SNP G G A TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr5:101794169G>A uc003knn.3 - 5 1220 c.1048C>T c.(1048-1050)Cgt>Tgt p.R350C SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Missense_Mutation_p.R350C|SLCO6A1_uc003knq.3_Missense_Mutation_p.R288C NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 350 integral to membrane|plasma membrane transporter activity p.R350H(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AGCTGTTTACGTTTCCTAGCT 0.294000 19 25 0 0 1 0 0 KLHL26 55295 broad.mit.edu 37 19 18779952 18779952 + Missense_Mutation SNP A A T TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr19:18779952A>T uc002njz.1 + 2 1772 c.1745A>T c.(1744-1746)aAc>aTc p.N582I NM_018316 NP_060786 Q53HC5 KLH26_HUMAN Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA. 582 breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 CAGGTGTACAACACGGACACC 0.657000 17 36 0 0 1 0 0 MLL 4297 broad.mit.edu 37 11 118374951 118374951 + Missense_Mutation SNP A A G TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr11:118374951A>G uc001ptb.3 + 26 8367 c.8344A>G c.(8344-8346)Aag>Gag p.K2782E MLL_uc001pta.3_Missense_Mutation_p.K2779E NM_001197104 NP_001184033 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA. 2779 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AAATGAGCCAAAGATGGATAA 0.433000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 23 78 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c 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 27 44 0 0 1 0 0 CREBZF 58487 broad.mit.edu 37 11 85375047 85375047 + Silent SNP C C T TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr11:85375047C>T uc001pas.2 - 0 1136 c.873G>A c.(871-873)ctG>ctA p.L291L CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript NM_001039618 NP_001034707 Q9NS37 ZHANG_HUMAN Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA. 291 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) GCGAGGTGGTCAGCCGCAGTC 0.652000 OREG0021274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 112 0 0 1 0 0 GLOD5 392465 broad.mit.edu 37 X 48631755 48631755 + Silent SNP A A G TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chrX:48631755A>G uc011mmh.2 + 3 428 c.387A>G c.(385-387)ccA>ccG p.P129P NM_001080489 NP_001073958 Homo sapiens glyoxalase domain containing 5 (GLOD5), mRNA. endometrium(1)|lung(2) 3 AGGAGGGGCCAGTCCCCAGAA 0.473000 16 11 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22054270 22054270 + Nonsense_Mutation SNP A A T TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr8:22054270A>T uc003xbg.3 + 13 2109 c.1843A>T c.(1843-1845)Aag>Tag p.K615* BMP1_uc003xbf.3_Nonsense_Mutation_p.K364*|BMP1_uc003xbb.3_Nonsense_Mutation_p.K615*|BMP1_uc003xbc.3_Nonsense_Mutation_p.K364*|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Nonsense_Mutation_p.K364*|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript NM_006129 NP_006120 P13497 BMP1_HUMAN Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA. 615 CUB 3. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) CCCCCCCAACAAGAACTGCAT 0.607000 13 23 0 0 1 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45210582 45210582 + Silent SNP G G A TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr22:45210582G>A uc003bfd.3 + 9 1237 c.960G>A c.(958-960)gtG>gtA p.V320V PRR5-ARHGAP8_uc011aqi.2_Silent_p.V232V|PRR5-ARHGAP8_uc011aqj.2_Silent_p.V146V|PRR5-ARHGAP8_uc003bfi.3_Silent_p.V110V|PRR5-ARHGAP8_uc010gzv.3_Silent_p.V110V|PRR5-ARHGAP8_uc003bfj.3_Silent_p.V141V|PRR5-ARHGAP8_uc003bfk.3_Silent_p.V110V|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript NM_181335 NP_851852 Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA. breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 CCCTCTACGTGGTGCACCCCA 0.577000 7 68 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25769225 25769225 + Frame_Shift_Del DEL C C - TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr4:25769225delC uc003gru.4 - 18 2919 c.2767delG c.(2767-2769)gccfs p.A923fs SEL1L3_uc003grv.3_Frame_Shift_Del_p.A330fs NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA. 923 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 TATCTCCTGGCCAGGTCCTAA 0.388 2 4 --- --- --- ---