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 PIK3R3 8503 broad.mit.edu 37 1 46546396 46546396 + Missense_Mutation SNP T T C TCGA-FC-A8O0-01A-41D-A377-08 TCGA-FC-A8O0-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79086298-47f2-4553-bf73-fc0572aebf2e c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318 g.chr1:46546396T>C ENST00000262741.5 - 2 822 c.133A>G c.(133-135)Atg>Gtg p.M45V PIK3R3_ENST00000420542.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000540385.1_Missense_Mutation_p.M91V|PIK3R3_ENST00000423209.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000354242.4_Missense_Mutation_p.M45V|PIK3R3_ENST00000372006.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000340332.6_Intron NM_003629.3 NP_003620.3 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 45 insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding endometrium(1)|large_intestine(5)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(166;0.155) GCTGAAGTCATTGGCTTAGGT 0.403 7 252 --- --- --- --- VWA3B 200403 broad.mit.edu 37 2 98844684 98844684 + Missense_Mutation SNP T T C TCGA-FC-A8O0-01A-41D-A377-08 TCGA-FC-A8O0-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79086298-47f2-4553-bf73-fc0572aebf2e c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318 g.chr2:98844684T>C ENST00000477737.1 + 15 2243 c.2039T>C c.(2038-2040)tTa>tCa p.L680S NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 680 VWFA. NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CTGACTCTTTTAGTTAAGGAA 0.368 29 45 --- --- --- --- ADAM29 11086 broad.mit.edu 37 4 175898876 175898876 + Missense_Mutation SNP C C A rs138923714 byFrequency TCGA-FC-A8O0-01A-41D-A377-08 TCGA-FC-A8O0-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79086298-47f2-4553-bf73-fc0572aebf2e c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318 g.chr4:175898876C>A ENST00000359240.3 + 5 2870 c.2200C>A c.(2200-2202)Cct>Act p.P734T ADAM29_ENST00000404450.4_Missense_Mutation_p.P734T|ADAM29_ENST00000514159.1_Missense_Mutation_p.P734T|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.P734T NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 734 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CCAGAGTCAACCTTGGGTGAT 0.493 44 50 --- --- --- --- CEP120 153241 broad.mit.edu 37 5 122682431 122682431 + Missense_Mutation SNP G G C TCGA-FC-A8O0-01A-41D-A377-08 TCGA-FC-A8O0-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79086298-47f2-4553-bf73-fc0572aebf2e c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318 g.chr5:122682431G>C ENST00000306467.5 - 20 3047 c.2743C>G c.(2743-2745)Caa>Gaa p.Q915E CEP120_ENST00000328236.5_Missense_Mutation_p.Q915E|CEP120_ENST00000306481.6_Missense_Mutation_p.Q889E Q8N960 CE120_HUMAN centrosomal protein 120kDa 915 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 TATTGTTTTTGCTCTTGTTGC 0.393 30 44 --- --- --- --- HNRNPH1 3187 broad.mit.edu 37 5 179043911 179043911 + Missense_Mutation SNP C C T TCGA-FC-A8O0-01A-41D-A377-08 TCGA-FC-A8O0-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79086298-47f2-4553-bf73-fc0572aebf2e c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318 g.chr5:179043911C>T ENST00000356731.5 - 10 2701 c.1166G>A c.(1165-1167)gGt>gAt p.G389D HNRNPH1_ENST00000510411.1_Intron|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G389D|HNRNPH1_ENST00000511300.2_Intron|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G389D|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G389D P31943 HNRH1_HUMAN heterogeneous nuclear ribonucleoprotein H1 (H) 389 2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats. regulation of RNA splicing actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|poly(U) RNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1) 14 ATAAGCACCACCGCTTGCTCC 0.353 25 101 --- --- --- --- DAAM2 23500 broad.mit.edu 37 6 39869131 39869131 + Silent SNP C C T TCGA-FC-A8O0-01A-41D-A377-08 TCGA-FC-A8O0-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79086298-47f2-4553-bf73-fc0572aebf2e c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318 g.chr6:39869131C>T ENST00000538976.1 + 24 3044 c.2862C>T c.(2860-2862)gaC>gaT p.D954D DAAM2_ENST00000398904.2_Silent_p.D955D|DAAM2_ENST00000274867.4_Silent_p.D955D NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 955 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) TGCAGCCAGACGAATTCTTTG 0.577 6 161 --- --- --- --- ENPP5 59084 broad.mit.edu 37 6 46129452 46129452 + Missense_Mutation SNP G G A TCGA-FC-A8O0-01A-41D-A377-08 TCGA-FC-A8O0-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79086298-47f2-4553-bf73-fc0572aebf2e c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318 g.chr6:46129452G>A ENST00000371383.2 - 5 1305 c.1045C>T c.(1045-1047)Cat>Tat p.H349Y ENPP5_ENST00000230565.3_Missense_Mutation_p.H349Y Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) 349 extracellular region|integral to membrane hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 12 AATATTGGATGCATATCTGCT 0.388 84 172 --- --- --- --- ANGPT2 285 broad.mit.edu 37 8 6360776 6360776 + Nonsense_Mutation SNP C C T TCGA-FC-A8O0-01A-41D-A377-08 TCGA-FC-A8O0-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79086298-47f2-4553-bf73-fc0572aebf2e c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318 g.chr8:6360776C>T ENST00000325203.5 - 9 1811 c.1337G>A c.(1336-1338)tGg>tAg p.W446* ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.W445*|ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.W394*|MCPH1_ENST00000344683.5_Intron O15123 ANGP2_HUMAN angiopoietin 2 446 Fibrinogen C-terminal. angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) TGCATCAAACCACCAGCCTGT 0.468 9 92 --- --- --- --- TRPS1 7227 broad.mit.edu 37 8 116632180 116632180 + Nonsense_Mutation SNP C C A TCGA-FC-A8O0-01A-41D-A377-08 TCGA-FC-A8O0-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79086298-47f2-4553-bf73-fc0572aebf2e c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318 g.chr8:116632180C>A ENST00000395715.3 - 3 722 c.145G>T c.(145-147)Gaa>Taa p.E49* TRPS1_ENST00000519674.1_Nonsense_Mutation_p.E36*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.E36*|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.E40*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.E36* NM_001282902.1|NM_001282903.1|NM_014112.2 NP_001269831.1|NP_001269832.1|NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 36 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GCAGAAAATTCTTTGTTCTTT 0.448 Langer-Giedion syndrome 15 49 --- --- --- --- SLC22A9 114571 broad.mit.edu 37 11 63176239 63176239 + Silent SNP C C T TCGA-FC-A8O0-01A-41D-A377-08 TCGA-FC-A8O0-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79086298-47f2-4553-bf73-fc0572aebf2e c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318 g.chr11:63176239C>T ENST00000279178.3 + 9 1738 c.1489C>T c.(1489-1491)Ctg>Ttg p.L497L SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 497 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 TTCTCCACCCCTGCCCTGGAT 0.507 23 41 --- --- --- --- PARP11 57097 broad.mit.edu 37 12 3923277 3923277 + Missense_Mutation SNP T T A TCGA-FC-A8O0-01A-41D-A377-08 TCGA-FC-A8O0-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79086298-47f2-4553-bf73-fc0572aebf2e c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318 g.chr12:3923277T>A ENST00000228820.4 - 7 770 c.626A>T c.(625-627)gAa>gTa p.E209V PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000447133.3_Missense_Mutation_p.E128V|PARP11_ENST00000427057.2_Missense_Mutation_p.E128V|PARP11_ENST00000397096.2_Missense_Mutation_p.E202V NM_020367.4 NP_065100.2 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 202 PARP catalytic. NAD+ ADP-ribosyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 17 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) TTCCACAAATTCACTGCTGGT 0.368 8 55 --- --- --- --- ARHGAP5 394 broad.mit.edu 37 14 32561297 32561297 + Silent SNP A A G TCGA-FC-A8O0-01A-41D-A377-08 TCGA-FC-A8O0-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79086298-47f2-4553-bf73-fc0572aebf2e c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318 g.chr14:32561297A>G ENST00000345122.3 + 2 1737 c.1422A>G c.(1420-1422)gtA>gtG p.V474V ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.V474V|ARHGAP5_ENST00000539826.2_Silent_p.V474V|ARHGAP5_ENST00000432921.1_Silent_p.V474V|ARHGAP5_ENST00000396582.2_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 474 FF 3. cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) GCAAAGAGGTATATGGTAGGC 0.373 3 70 --- --- --- --- KRT35 3886 broad.mit.edu 37 17 39635635 39635635 + Silent SNP C C T TCGA-FC-A8O0-01A-41D-A377-08 TCGA-FC-A8O0-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79086298-47f2-4553-bf73-fc0572aebf2e c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318 g.chr17:39635635C>T ENST00000246639.2 - 3 717 c.585G>A c.(583-585)aaG>aaA p.K195K KRT35_ENST00000393989.1_Silent_p.K225K Q92764 KRT35_HUMAN keratin 35 225 Coil 1B.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) GCAGCTCCTCCTTCAGGGACT 0.602 3 74 --- --- --- --- TTLL6 284076 broad.mit.edu 37 17 46862423 46862423 + Silent SNP C C T TCGA-FC-A8O0-01A-41D-A377-08 TCGA-FC-A8O0-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79086298-47f2-4553-bf73-fc0572aebf2e c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318 g.chr17:46862423C>T ENST00000393382.3 - 13 2043 c.1902G>A c.(1900-1902)acG>acA p.T634T TTLL6_ENST00000433608.2_Silent_p.T327T NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 586 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GCTTCGCAGACGTCAGCTTGG 0.527 4 108 --- --- --- ---