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 VPS13D 55187 broad.mit.edu 37 1 12331156 12331156 + Missense_Mutation SNP A A G TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr1:12331156A>G ENST00000358136.3 + 17 2208 c.2078A>G c.(2077-2079)gAt>gGt p.D693G VPS13D_ENST00000356315.4_Missense_Mutation_p.D693G NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 693 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CAAACTCTTGATCGTTTGCTA 0.468 27 53 --- --- --- --- F3 2152 broad.mit.edu 37 1 94996023 94996023 + Missense_Mutation SNP A A G TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr1:94996023A>G ENST00000334047.7 - 6 1044 c.881T>C c.(880-882)gTt>gCt p.V294A F3_ENST00000370207.4_3'UTR NM_001993.4 NP_001984.1 P13726 TF_HUMAN coagulation factor III (thromboplastin, tissue factor) 294 activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7) 14 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) CCTTTATGAAACATTCAGTGG 0.433 3 85 --- --- --- --- CTNNB1 1499 broad.mit.edu 37 3 41266112 41266112 + Missense_Mutation SNP T T G rs121913416 TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr3:41266112T>G ENST00000349496.5 + 3 389 c.109T>G c.(109-111)Tct>Gct p.S37A CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37A NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 37 S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S37A(62)|p.A5_A80del(53)|p.S37P(21)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.I35_S37>T(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.S37T(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TGGAATCCATTCTGGTGCCAC 0.498 S37P(HEC108_ENDOMETRIUM)|S37P(SNGM_ENDOMETRIUM) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 5 46 --- --- --- --- TIFAB 497189 broad.mit.edu 37 5 134785319 134785319 + Missense_Mutation SNP C C T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr5:134785319C>T ENST00000537858.1 - 2 511 c.311G>A c.(310-312)aGg>aAg p.R104K NM_001099221.1 NP_001092691.1 Q6ZNK6 TIFAB_HUMAN TRAF-interacting protein with forkhead-associated domain, family member B 104 breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GAAGGAGACCCTGTTGACGGT 0.587 12 114 --- --- --- --- NEDD9 4739 broad.mit.edu 37 6 11191315 11191315 + Missense_Mutation SNP T T C TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr6:11191315T>C ENST00000379446.5 - 5 953 c.787A>G c.(787-789)Att>Gtt p.I263V NEDD9_ENST00000504387.1_Missense_Mutation_p.I263V|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 263 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) GTTGGAGGAATGTCATAAACC 0.552 3 76 --- --- --- --- ZNF79 7633 broad.mit.edu 37 9 130191138 130191138 + Missense_Mutation SNP C C T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr9:130191138C>T ENST00000342483.5 + 2 450 c.44C>T c.(43-45)cCc>cTc p.P15L ZNF79_ENST00000543471.1_5'UTR NM_007135.2 NP_009066.2 Q15937 ZNF79_HUMAN zinc finger protein 79 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 CCTGCCCTTCCCCAAGAGGAA 0.478 5 17 --- --- --- --- WDR37 22884 broad.mit.edu 37 10 1142152 1142152 + Missense_Mutation SNP A A G TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr10:1142152A>G ENST00000358220.1 + 9 836 c.692A>G c.(691-693)cAg>cGg p.Q231R WDR37_ENST00000381329.1_Missense_Mutation_p.Q231R|WDR37_ENST00000263150.4_Missense_Mutation_p.Q231R Q9Y2I8 WDR37_HUMAN WD repeat domain 37 231 breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1) 17 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) TACGCGGTGCAGCTGCCGACA 0.488 8 66 --- --- --- --- RASSF7 8045 broad.mit.edu 37 11 562264 562264 + Missense_Mutation SNP G G A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr11:562264G>A ENST00000397583.3 + 3 743 c.310G>A c.(310-312)Gaa>Aaa p.E104K RASSF7_ENST00000524468.1_3'UTR|RASSF7_ENST00000431809.1_Missense_Mutation_p.E104K|RASSF7_ENST00000454668.2_Missense_Mutation_p.E104K|RASSF7_ENST00000397582.3_Missense_Mutation_p.E104K|RASSF7_ENST00000344375.4_Missense_Mutation_p.E104K NM_003475.3 NP_003466.1 Q02833 RASF7_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 104 regulation of transcription, DNA-dependent|signal transduction nucleus DNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCCACCCCCGGAACGCTGCCT 0.667 5 49 --- --- --- --- AMHR2 269 broad.mit.edu 37 12 53819285 53819285 + Silent SNP A A G TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr12:53819285A>G ENST00000257863.4 + 5 629 c.549A>G c.(547-549)ccA>ccG p.P183P AMHR2_ENST00000379791.3_Silent_p.P183P|AMHR2_ENST00000550311.1_Silent_p.P183P NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 183 Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) AGCCAGTGCCAGAGCCAAGGC 0.592 3 80 --- --- --- --- SSTR1 6751 broad.mit.edu 37 14 38679035 38679035 + Nonsense_Mutation SNP T T A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr14:38679035T>A ENST00000267377.2 + 3 1058 c.441T>A c.(439-441)tgT>tgA p.C147* NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 147 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GCATCTACTGTCTGACTGTGC 0.647 6 160 --- --- --- --- RYR3 6263 broad.mit.edu 37 15 33928661 33928661 + Missense_Mutation SNP G G T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr15:33928661G>T ENST00000389232.4 + 27 3536 c.3466G>T c.(3466-3468)Gat>Tat p.D1156Y RYR3_ENST00000415757.3_Missense_Mutation_p.D1156Y NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1156 4 X approximate repeats.|B30.2/SPRY 2. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TAACCTGGATGATGCTTCAAT 0.483 4 145 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7806622 7806622 + Silent SNP C C T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr17:7806622C>T ENST00000380358.4 + 23 3706 c.3705C>T c.(3703-3705)gcC>gcT p.A1235A CHD3_ENST00000330494.7_Silent_p.A1176A|CHD3_ENST00000358181.4_Silent_p.A1176A NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1176 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TTGGCCAGGCCAACAAAGTGA 0.577 6 62 --- --- --- --- NCOR1 9611 broad.mit.edu 37 17 15971376 15971376 + Nonsense_Mutation SNP G G A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr17:15971376G>A ENST00000268712.3 - 32 4830 c.4573C>T c.(4573-4575)Cag>Tag p.Q1525* NCOR1_ENST00000395857.3_Nonsense_Mutation_p.Q109*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q1541* NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1525 Interaction with C1D (By similarity).|Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTTTCCCTCTGGGTAGGGGTC 0.493 6 19 --- --- --- --- ITGA2B 3674 broad.mit.edu 37 17 42458366 42458366 + Missense_Mutation SNP C C A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr17:42458366C>A ENST00000262407.5 - 13 1305 c.1274G>T c.(1273-1275)gGt>gTt p.G425V ITGA2B_ENST00000377068.3_Missense_Mutation_p.G110V|ITGA2B_ENST00000353281.4_Missense_Mutation_p.G425V NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 425 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CTCACTCTGACCCAGGAACAC 0.612 15 32 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44145009 44145009 + Nonsense_Mutation SNP C C A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr17:44145009C>A ENST00000262419.6 - 5 2028 c.1558G>T c.(1558-1560)Gaa>Taa p.E520* KANSL1_ENST00000432791.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.E520* NM_001193466.1 NP_001180395 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 520 MLL1 complex protein binding CCATGGTTTTCCAATGGCTGA 0.413 4 36 --- --- --- --- RGS9 8787 broad.mit.edu 37 17 63200388 63200388 + Missense_Mutation SNP C C T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr17:63200388C>T ENST00000449996.3 + 15 1235 c.1163C>T c.(1162-1164)gCa>gTa p.A388V RGS9_ENST00000443584.3_Missense_Mutation_p.A388V|RGS9_ENST00000262406.9_Missense_Mutation_p.A391V NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 391 RGS. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 CTGGACGCCGCACAAACCCAC 0.557 4 44 --- --- --- --- SLC16A6 9120 broad.mit.edu 37 17 66267073 66267073 + Missense_Mutation SNP C C T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr17:66267073C>T ENST00000327268.4 - 6 1392 c.1228G>A c.(1228-1230)Gat>Aat p.D410N SLC16A6_ENST00000580666.1_Missense_Mutation_p.D410N|ARSG_ENST00000448504.2_Intron NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 410 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) ACGACATCATCCTCAGCAAGC 0.468 8 97 --- --- --- --- OTOP2 92736 broad.mit.edu 37 17 72926528 72926528 + Silent SNP T T C TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr17:72926528T>C ENST00000331427.4 + 6 890 c.798T>C c.(796-798)ggT>ggC p.G266G OTOP2_ENST00000580223.1_Silent_p.G266G NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 266 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) AGAATGTGGGTAGATTCCTGG 0.572 76 169 --- --- --- --- RDH8 50700 broad.mit.edu 37 19 10131942 10131942 + Missense_Mutation SNP T T C TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr19:10131942T>C ENST00000591589.1 + 5 797 c.608T>C c.(607-609)gTg>gCg p.V203A RDH8_ENST00000171214.1_Missense_Mutation_p.V183A Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 183 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) ATCTCCCTGGTGGAGCCAGGC 0.532 4 50 --- --- --- --- PRKACA 5566 broad.mit.edu 37 19 14208444 14208444 + Missense_Mutation SNP A A C TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr19:14208444A>C ENST00000308677.4 - 7 785 c.589T>G c.(589-591)Tgg>Ggg p.W197G PRKACA_ENST00000589994.1_Missense_Mutation_p.W189G|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron NM_002730.3 NP_002721.1 P17612 KAPCA_HUMAN protein kinase, cAMP-dependent, catalytic, alpha 197 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 CACAAGGTCCAAGTGCGGCCC 0.642 7 39 --- --- --- --- ANKLE1 126549 broad.mit.edu 37 19 17397230 17397230 + Missense_Mutation SNP G G A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr19:17397230G>A ENST00000394458.3 + 9 1993 c.1717G>A c.(1717-1719)Gga>Aga p.G573R ANKLE1_ENST00000404085.1_Missense_Mutation_p.G569R|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G536R|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.M500I NM_152363.4 NP_689576 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 573 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 GCACTGCTATGGAGTGGTGGC 0.642 3 52 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58470533 58470533 + Missense_Mutation SNP T T C TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr20:58470533T>C ENST00000357552.3 - 20 1849 c.1624A>G c.(1624-1626)Aga>Gga p.R542G SYCP2_ENST00000371001.2_Missense_Mutation_p.R542G Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 542 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TCTGATGATCTAGATTTCAGT 0.318 16 46 --- --- --- --- ASCC2 84164 broad.mit.edu 37 22 30185114 30185114 + Missense_Mutation SNP C C T rs139016848 by1000genomes TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr22:30185114C>T ENST00000397771.2 - 21 2339 c.2162G>A c.(2161-2163)cGc>cAc p.R721H ASCC2_ENST00000307790.3_Missense_Mutation_p.R721H|ASCC2_ENST00000542393.1_Missense_Mutation_p.R645H Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 721 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) GGTTGTCTCGCGGCTCTGCCC 0.627 12 328 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89720833 89720833 + Frame_Shift_Del DEL A A - TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr10:89720833delA ENST00000371953.3 + 8 2341 c.984delA c.(982-984)gcafs p.A328fs PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 328 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.A328fs*15(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTGACAAAGCAAATAAAGACA 0.328 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 21 74 --- --- --- --- HBG2 3048 broad.mit.edu 37 11 5275612 5275612 + Frame_Shift_Del DEL G G - TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr11:5275612delG ENST00000380259.2 - 7 1465 c.225delC c.(223-225)gccfs p.A75fs HBG2_ENST00000380252.1_Frame_Shift_Del_p.A65fs|HBG2_ENST00000336906.4_Frame_Shift_Del_p.A75fs hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTGCTTTATGGCATCTCCCA 0.527 11 217 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44966780 44966783 + Splice_Site DEL AAGT AAGT - TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chrX:44966780_44966783delAAGT ENST00000377967.4 + 27 4045_4046 c.4004_4005delAAGT c.(4003-4005)gaa>g p.E1335fs KDM6A_ENST00000382899.4_Splice_Site_p.E1342fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000543216.1_Splice_Site_p.E1256fs|KDM6A_ENST00000536777.1_Splice_Site_p.E1290fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1335 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 AGCATTTGTGAAGTAAGTAATTGT 0.348 """D, N, F, S""" """renal, oesophageal SCC, MM""" 12 42 --- --- --- ---