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 FAT1 2195 broad.mit.edu 37 4 187628151 187628151 + Missense_Mutation SNP G G A TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr4:187628151G>A ENST00000441802.2 - 2 3040 c.2831C>T c.(2830-2832)aCc>aTc p.T944I NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 944 Cadherin 8. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CATGATGACGGTTCCTTCTGG 0.453000 HNSCC(5;0.00058) 5 284 0 0 1 0 0 CERCAM 51148 broad.mit.edu 37 9 131186792 131186792 + Missense_Mutation SNP G G A TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr9:131186792G>A ENST00000372842.1 + 6 3575 c.431G>A c.(430-432)cGg>cAg p.R144Q CERCAM_ENST00000372838.4_Missense_Mutation_p.R222Q Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 222 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane p.R144L(1)|p.R222L(1) endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 GCATCCCTGCGGGCTGAAGGG 0.617000 39 68 0 0 1 0 0 PBX4 80714 broad.mit.edu 37 19 19672911 19672911 + Nonsense_Mutation SNP G G A TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr19:19672911G>A ENST00000251203.8 - 8 1334 c.1048C>T c.(1048-1050)Cag>Tag p.Q350* NM_025245.2 NP_079521.1 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 350 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 GTGGCCCCCTGCCAGCTACCC 0.597000 4 22 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175936 207175936 + Silent SNP G G A TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr2:207175936G>A ENST00000374423.3 + 5 7070 c.6684G>A c.(6682-6684)tcG>tcA p.S2228S NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2228 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AGTATATTTCGAAATACTCTG 0.363000 10 15 0 0 1 0 0 FAM89A 375061 broad.mit.edu 37 1 231155648 231155648 + Silent SNP G G A TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr1:231155648G>A ENST00000366654.4 - 2 550 c.516C>T c.(514-516)tcC>tcT p.S172S MIR1182_ENST00000408363.1_RNA|FAM89A_ENST00000494111.1_5'UTR NM_198552.2 NP_940954.1 Q96GI7 FA89A_HUMAN family with sequence similarity 89, member A 172 endometrium(1)|upper_aerodigestive_tract(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TGGAGAGGGAGGAGACAGGCA 0.567000 3 54 0 0 1 0 0 KCNQ4 9132 broad.mit.edu 37 1 41283890 41283890 + Missense_Mutation SNP G G A TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr1:41283890G>A ENST00000347132.5 + 3 542 c.460G>A c.(460-462)Gcc>Acc p.A154T KCNQ4_ENST00000509682.2_Missense_Mutation_p.A154T NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 154 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) GGTCTGGTCCGCCGGATGCTG 0.612000 20 52 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106520010 106520010 + Missense_Mutation SNP T T C TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr7:106520010T>C ENST00000359195.3 + 6 2748 c.2438T>C c.(2437-2439)cTt>cCt p.L813P PIK3CG_ENST00000496166.1_Missense_Mutation_p.L813P|PIK3CG_ENST00000440650.2_Missense_Mutation_p.L813P NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 813 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CCACTATGGCTTGAGTTTAAA 0.368000 3 85 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 4 19 0 0 1 0 0 SLC9A7P1 0 broad.mit.edu 37 12 98850610 98850610 + RNA SNP C C A TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr12:98850610C>A ENST00000554295.1 - 0 313 NR_033801.1 AAAGTGCACCCGGCAGTACTT 0.602000 6 15 0.217242 0.217242 1 1 0 OR8K1 390157 broad.mit.edu 37 11 56114203 56114203 + Missense_Mutation SNP C C T TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr11:56114203C>T ENST00000279783.2 + 1 783 c.689C>T c.(688-690)gCc>gTc p.A230V NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) ATTCTAGTGGCCATTCTCAGA 0.383000 HNSCC(65;0.19) 26 47 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 4 51 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16992025 16992025 + Silent SNP G G A TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr10:16992025G>A ENST00000377833.4 - 34 5120 c.5055C>T c.(5053-5055)ggC>ggT p.G1685G NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1685 CUB 11. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.G1685G(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTTCGTGGCCGCCATCCAAAA 0.448000 11 31 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TGGTActactgctgctgctgc 0.502000 T MLL ALL 6 105 0 0 1 0 0 ZNF165 7718 broad.mit.edu 37 6 28053480 28053480 + Silent SNP C C T rs140146788 TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr6:28053480C>T ENST00000377325.1 + 2 778 c.222C>T c.(220-222)tgC>tgT p.C74C NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 74 SCAN box. viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGGAGCTCTGCTGTCAGTGGC 0.562000 3 58 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 34 92 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119025013 119025013 + Missense_Mutation SNP C C T TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr11:119025013C>T ENST00000307417.3 + 4 764 c.400C>T c.(400-402)Cgg>Tgg p.R134W ABCG4_ENST00000449422.2_Missense_Mutation_p.R134W|ABCG4_ENST00000531739.1_Missense_Mutation_p.R134W NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 134 ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TGGAAGGCCACGGGAGCTGAG 0.557000 7 71 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906506 13906506 + Missense_Mutation SNP T T C TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr12:13906506T>C ENST00000279593.3 - 3 964 c.755A>G c.(754-756)tAt>tGt p.Y252C NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 252 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CGTGTAGCCATAGCCAGTCAG 0.512000 3 152 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228528833 228528833 + Missense_Mutation SNP G G A TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr1:228528833G>A ENST00000570156.2 + 84 20680 c.20606G>A c.(20605-20607)cGc>cAc p.R6869H OBSCN_ENST00000366709.4_Missense_Mutation_p.R3031H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3546H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5912H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5912H NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5912 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCGGGGGCCCGCATGCCCTGG 0.677000 3 41 0 0 1 0 0 DMBX1 127343 broad.mit.edu 37 1 46977833 46977833 + Silent SNP G G A TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr1:46977833G>A ENST00000371956.4 + 4 831 c.816G>A c.(814-816)caG>caA p.Q272Q DMBX1_ENST00000360032.3_Silent_p.Q267Q NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 272 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) AATTCCGCCAGCACATGGCGG 0.672000 3 57 0 0 1 0 0 HOXD3 3232 broad.mit.edu 37 2 177034190 177034190 + Silent SNP A A G TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr2:177034190A>G ENST00000468418.3 + 3 2438 c.348A>G c.(346-348)ccA>ccG p.P116P HOXD3_ENST00000410016.1_Silent_p.P116P|HOXD3_ENST00000249440.3_Silent_p.P116P P31249 HXD3_HUMAN homeobox D3 116 Poly-Pro. anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) AGCAGCAGccaccacaacccc 0.642000 17 44 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 8 94 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43166845 43166845 + Missense_Mutation SNP C C T TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr21:43166845C>T ENST00000352483.2 - 5 824 c.760G>A c.(760-762)Gcc>Acc p.A254T RIPK4_ENST00000332512.3_Missense_Mutation_p.A254T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A191T|RIPK4_ENST00000542057.1_Missense_Mutation_p.A191T Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 254 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TGGCTGCAGGCGCGCGGCCGG 0.672000 55 78 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43411483 43411483 + Silent SNP G G A TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr21:43411483G>A ENST00000310826.5 - 3 2905 c.2722C>T c.(2722-2724)Ctg>Ttg p.L908L ZBTB21_ENST00000398499.1_Silent_p.L908L|ZBTB21_ENST00000398505.3_Silent_p.L707L|ZBTB21_ENST00000398511.3_Silent_p.L908L NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 CAGGGCCACAGGCTGGCTTCT 0.552000 7 98 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6703471 6703471 + Missense_Mutation SNP C C T TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr17:6703471C>T ENST00000338694.2 - 8 1261 c.1132G>A c.(1132-1134)Gtc>Atc p.V378I TEKT1_ENST00000535086.1_Missense_Mutation_p.V232I NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 378 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) TTCTCTTTGACCTGGATCTCC 0.527000 11 125 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114058129 114058129 + Missense_Mutation SNP T T C TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr3:114058129T>C ENST00000462705.1 - 12 2551 c.1730A>G c.(1729-1731)aAc>aGc p.N577S ZBTB20_ENST00000393785.2_Missense_Mutation_p.N577S|ZBTB20_ENST00000481632.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000464560.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000357258.3_Missense_Mutation_p.N577S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000474710.1_Missense_Mutation_p.N650S NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 650 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CATGTGCACGTTGAGGGAGCT 0.527000 4 234 0 0 1 0 0 LARP4B 23185 broad.mit.edu 37 10 866757 866757 + Missense_Mutation SNP T T C TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr10:866757T>C ENST00000316157.3 - 13 1553 c.1513A>G c.(1513-1515)Agg>Ggg p.R505G NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 505 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 TTCTCCTCCCTTTTCTTCCGG 0.348000 3 76 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10755970 10755970 + Missense_Mutation SNP G G A TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr8:10755970G>A ENST00000416569.2 - 3 1444 c.1418C>T c.(1417-1419)gCg>gTg p.A473V XKR6_ENST00000304437.2_Missense_Mutation_p.A194V NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 473 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) TGCTGGCACCGCATAGGAGTC 0.473000 3 39 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 6 40 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152293790 152293790 + Frame_Shift_Del DEL T T - TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr2:152293790delT ENST00000243326.4 + 12 1891 c.1408delT c.(1408-1410)ttfs p.F471fs RIF1_ENST00000430328.2_Frame_Shift_Del_p.F471fs|RIF1_ENST00000428287.2_Frame_Shift_Del_p.F471fs|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000444746.2_Frame_Shift_Del_p.F471fs|RIF1_ENST00000453091.2_Frame_Shift_Del_p.F471fs Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 471 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) CAGCCCTTCCTTTTTTTCCAA 0.343 7 264 --- --- --- --- TMTC4 84899 broad.mit.edu 37 13 101257337 101257339 + In_Frame_Del DEL AGG AGG - TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr13:101257337_101257339delAGG ENST00000342624.5 - 19 2450_2452 c.2192_2194delCCT c.(2191-2196)ttg>t p.SL731del TMTC4_ENST00000328767.5_In_Frame_Del_p.SL601del|TMTC4_ENST00000376234.3_In_Frame_Del_p.SL712del NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 712 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TCAAGCTGCAAGGAGATTTCATA 0.438 23 255 --- --- --- --- KIAA0391 9692 broad.mit.edu 37 14 35592700 35592700 + Frame_Shift_Del DEL T T - TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr14:35592700delT ENST00000557565.1 + 2 630 c.249delT c.(247-249)cafs p.H83fs KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000250377.7_5'UTR O15091 MRRP3_HUMAN KIAA0391 83 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) CTGTTCCTCATTTTTTTTTAG 0.423 10 60 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-FG-8187-01A-11D-2253-08 TCGA-FG-8187-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03ef1338-e963-4cc2-a596-27334a685da3 ae886eb1-4d03-4bb3-b9b4-ad379272ab7a g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 30 394 --- --- --- ---