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 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 3 44 0 0 1 0 0 CHAF1A 10036 broad.mit.edu 37 19 4431958 4431958 + Missense_Mutation SNP G G A TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr19:4431958G>A ENST00000301280.5 + 12 2058 c.1957G>A c.(1957-1959)Gac>Aac p.D653N CHAF1A_ENST00000587368.1_3'UTR NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 653 Necessary for homodimerization and competence for chromatin assembly. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGTGTGCCGACCCTGAGAA 0.557000 Chromatin Structure 11 60 0 0 1 0 0 COX7A2 1347 broad.mit.edu 37 6 75950898 75950898 + Silent SNP C C T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr6:75950898C>T ENST00000370081.2 - 3 508 c.198G>A c.(196-198)ctG>ctA p.L66L COX7A2_ENST00000230459.4_Silent_p.L34L|COX7A2_ENST00000472311.2_Silent_p.L34L|COX7A2_ENST00000509698.1_Silent_p.L34L|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000370089.2_Silent_p.L66L P14406 CX7A2_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 (liver) 34 mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity kidney(2)|lung(1) 3 GTACCTGGAACAGTTTTTGCT 0.348000 15 130 0 0 1 0 0 STAT2 6773 broad.mit.edu 37 12 56749984 56749984 + Missense_Mutation SNP G G T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr12:56749984G>T ENST00000314128.4 - 3 240 c.217C>A c.(217-219)Cgt>Agt p.R73S STAT2_ENST00000418572.2_Missense_Mutation_p.R73S|STAT2_ENST00000557235.1_Missense_Mutation_p.R73S P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 73 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 TGGCTGCAACGGCCACACTCA 0.532000 3 55 1 1 1 1 0 ADCY9 115 broad.mit.edu 37 16 4016824 4016824 + Missense_Mutation SNP C C T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr16:4016824C>T ENST00000294016.3 - 11 3552 c.3014G>A c.(3013-3015)cGc>cAc p.R1005H NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 1005 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GTAGTGGAGGCGGTAGCTGAC 0.592000 5 96 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137237167 137237167 + Missense_Mutation SNP C C T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr7:137237167C>T ENST00000453654.1 - 20 1734 c.1195G>A c.(1195-1197)Gcc>Acc p.A399T DGKI_ENST00000446122.1_Missense_Mutation_p.A699T|DGKI_ENST00000424189.2_Missense_Mutation_p.A699T|DGKI_ENST00000288490.5_Missense_Mutation_p.A699T O75912 DGKI_HUMAN diacylglycerol kinase, iota 699 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 ACCATGTTGGCCTGATTCCTC 0.493000 26 93 0 0 1 0 0 GAD1 2571 broad.mit.edu 37 2 171686099 171686099 + Missense_Mutation SNP G G A TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr2:171686099G>A ENST00000358196.3 + 4 810 c.260G>A c.(259-261)cGc>cAc p.R87H GAD1_ENST00000375272.1_Missense_Mutation_p.R87H|GAD1_ENST00000344257.5_Missense_Mutation_p.R87H|GAD1_ENST00000429023.1_3'UTR NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 87 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CGGGATGCCCGCTTCCGGCGC 0.537000 13 102 0 0 1 0 0 ACY1 95 broad.mit.edu 37 3 52012035 52012035 + Missense_Mutation SNP G G T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr3:52012035G>T ENST00000458031.2 + 2 304 c.73G>T c.(73-75)Gtc>Ttc p.V25F ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000273596.3_Missense_Mutation_p.G73V|ABHD14A_ENST00000491470.1_Missense_Mutation_p.G73V|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.G73V Q03154 ACY1_HUMAN aminoacylase 1 0 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) GTCCTGGCTGGTCTCACCCCT 0.612000 11 38 6.40141e-05 7.3159e-05 1 1 0 CHD2 1106 broad.mit.edu 37 15 93524122 93524122 + Missense_Mutation SNP G G C TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr15:93524122G>C ENST00000394196.4 + 23 4022 c.2954G>C c.(2953-2955)gGg>gCg p.G985A CHD2_ENST00000557381.1_Missense_Mutation_p.G985A NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 985 Glu-rich. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GAACTGGAAGGGGAGGAATCA 0.363000 5 49 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11047546 11047546 + RNA SNP C C A TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr21:11047546C>A ENST00000470054.1 - 0 708 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTATGATACCCTTTGTCACAC 0.338000 5 475 8.12818e-05 9.03132e-05 1 1 0 TBX18 9096 broad.mit.edu 37 6 85446895 85446895 + Silent SNP C C T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr6:85446895C>T ENST00000369663.5 - 8 1669 c.1332G>A c.(1330-1332)caG>caA p.Q444Q TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 444 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TCTCACCAGCCTGGTTGGTGA 0.607000 12 60 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234444947 234444947 + Missense_Mutation SNP T T G TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr1:234444947T>G ENST00000366618.3 + 4 854 c.709T>G c.(709-711)Tac>Gac p.Y237D SLC35F3_ENST00000366617.3_Missense_Mutation_p.Y168D NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 168 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) AAACTACCTGTACTTACATGC 0.423000 8 118 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578443 7578443 + Missense_Mutation SNP A A G TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr17:7578443A>G ENST00000420246.2 - 5 619 c.487T>C c.(487-489)Tac>Cac p.Y163H TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000269305.4_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 163 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GACTGCTTGTAGATGGCCATG 0.622000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 5 54 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 3 45 0 0 1 0 0 ASB9 140462 broad.mit.edu 37 X 15270503 15270503 + Nonsense_Mutation SNP C C T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chrX:15270503C>T ENST00000546332.1 - 5 789 c.306G>A c.(304-306)tgG>tgA p.W102* ASB9_ENST00000380483.3_Nonsense_Mutation_p.W102*|ASB9_ENST00000380488.4_Nonsense_Mutation_p.W102*|ASB9_ENST00000473862.1_Intron|ASB9_ENST00000380485.3_Nonsense_Mutation_p.W102* NM_001168531.1 NP_001162003.1 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box containing 9 102 intracellular signal transduction breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10) 15 Hepatocellular(33;0.183) GTGGAGTGTGCCAGTCTGCTG 0.507000 3 39 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 34 0 0 1 0 0 DLG4 1742 broad.mit.edu 37 17 7100327 7100327 + Missense_Mutation SNP G G T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr17:7100327G>T ENST00000399510.2 - 11 1813 c.961C>A c.(961-963)Ctg>Atg p.L321M DLG4_ENST00000302955.6_Missense_Mutation_p.L275M|DLG4_ENST00000399506.2_Missense_Mutation_p.L278M NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 278 PDZ 3. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 TCGGTGCCCAGGTAGCTGCTG 0.607000 3 19 1 1 1 1 0 MAML3 55534 broad.mit.edu 37 4 140811117 140811117 + Silent SNP C C T rs62344938 TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr4:140811117C>T ENST00000509479.2 - 2 2329 c.1473G>A c.(1471-1473)caG>caA p.Q491Q MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 491 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgttgct 0.547000 3 18 0 0 1 0 0 EIF3L 51386 broad.mit.edu 37 22 38254723 38254723 + Nonsense_Mutation SNP C C G TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr22:38254723C>G ENST00000412331.2 + 5 993 c.411C>G c.(409-411)taC>taG p.Y137* EIF3L_ENST00000406934.1_Nonsense_Mutation_p.Y39*|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Nonsense_Mutation_p.Y137* NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 137 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 AATTATACTACAGGCACATAT 0.368000 35 167 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3948505 3948505 + RNA SNP G G A TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr4:3948505G>A ENST00000281228.8 - 0 880 FAM86EP_ENST00000313946.8_RNA CTAGCTCAGTGGTGAACAGCT 0.657000 9 69 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 4 31 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71218839 71218839 + Missense_Mutation SNP C C T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr16:71218839C>T ENST00000393567.2 - 3 340 c.190G>A c.(190-192)Gca>Aca p.A64T HYDIN_ENST00000321489.5_Missense_Mutation_p.A64T|HYDIN_ENST00000541601.1_Missense_Mutation_p.A81T|HYDIN_ENST00000448691.1_Missense_Mutation_p.A64T|HYDIN_ENST00000448089.2_Missense_Mutation_p.A64T|HYDIN_ENST00000538248.1_Missense_Mutation_p.A91T|HYDIN_ENST00000288168.10_Missense_Mutation_p.A81T|HYDIN_ENST00000393550.2_Missense_Mutation_p.A64T NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 64 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CGTGTTTTTGCCAGTCTCTGC 0.433000 4 82 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151873585 151873585 + Nonsense_Mutation SNP G G A TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr7:151873585G>A ENST00000355193.2 - 38 9171 c.8953C>T c.(8953-8955)Cag>Tag p.Q2985* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q2985* lysine (K)-specific methyltransferase 2C TGCACACCCTGAGAAAAAACA 0.473000 7 44 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131370264 131370264 + Missense_Mutation SNP G G A TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr9:131370264G>A ENST00000358161.5 + 33 4393 c.4280G>A c.(4279-4281)cGt>cAt p.R1427H SPTAN1_ENST00000372731.4_Missense_Mutation_p.R1427H|SPTAN1_ENST00000372739.3_Missense_Mutation_p.R1427H Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1427 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GACCAGGAGCGTGCAGACCTG 0.527000 13 70 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69348838 69348838 + Missense_Mutation SNP G G A TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr6:69348838G>A ENST00000370598.1 + 3 1092 c.271G>A c.(271-273)Gat>Aat p.D91N NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 91 CUB. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TTATCAGTTTGATCATTTTTC 0.343000 8 45 0 0 1 0 0 FADS3 3995 broad.mit.edu 37 11 61643432 61643432 + Missense_Mutation SNP G G A TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr11:61643432G>A ENST00000278829.2 - 11 1329 c.1177C>T c.(1177-1179)Ccg>Tcg p.P393S FADS3_ENST00000527697.1_Missense_Mutation_p.P278S|FADS3_ENST00000525588.1_Missense_Mutation_p.P365S|FADS3_ENST00000540820.1_3'UTR NM_021727.3 NP_068373.1 Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 393 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TTGTGTCTCGGCATCCTGGGG 0.657000 4 90 0 0 1 0 0 ZBTB12 221527 broad.mit.edu 37 6 31868519 31868519 + Silent SNP T T C TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr6:31868519T>C ENST00000375527.2 - 2 739 c.564A>G c.(562-564)gaA>gaG p.E188E C2_ENST00000469372.1_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10 GCTCCAAGTCTTCATCCAGTG 0.622000 3 46 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72131101 72131101 + Silent SNP C C T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr9:72131101C>T ENST00000265381.4 - 2 1248 c.1026G>A c.(1024-1026)aaG>aaA p.K342K NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 342 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TGGCATCGCGCTTCTCCTTGC 0.711000 14 56 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 4 29 0 0 1 0 0 PFKM 5213 broad.mit.edu 37 12 48539011 48539011 + Missense_Mutation SNP C C T TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr12:48539011C>T ENST00000340802.6 + 24 2548 c.2324C>T c.(2323-2325)aCt>aTt p.T775I PFKM_ENST00000395233.2_Missense_Mutation_p.T673I|PFKM_ENST00000547587.1_Missense_Mutation_p.T704I|PFKM_ENST00000359794.5_Missense_Mutation_p.T704I|PFKM_ENST00000551804.1_Missense_Mutation_p.T673I|PFKM_ENST00000312352.7_Missense_Mutation_p.T704I NM_001166686.1 NP_001160158.1 P08237 K6PF_HUMAN phosphofructokinase, muscle 704 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 TTTGCCAATACTCCAGATTCG 0.542000 14 79 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72936047 72936047 + Splice_Site SNP A A G TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr8:72936047A>G ENST00000262209.4 - 26 3357 c.e26+1 RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) AAAAATACATACCGGTATTTC 0.244000 11 51 0 0 1 0 0 TFEC 22797 broad.mit.edu 37 7 115581955 115581955 + Missense_Mutation SNP G G A TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr7:115581955G>A ENST00000265440.7 - 7 835 c.655C>T c.(655-657)Cgg>Tgg p.R219W TFEC_ENST00000393485.1_Missense_Mutation_p.R190W|TFEC_ENST00000457268.1_Missense_Mutation_p.R152W|TFEC_ENST00000484212.1_Missense_Mutation_p.R309W|TFEC_ENST00000320239.7_Missense_Mutation_p.R190W NM_012252.3 NP_036384.1 O14948 TFEC_HUMAN transcription factor EC 219 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) ACCTGAATCCGAAGTAGAAGT 0.398000 30 135 0 0 1 0 0 KCP 375616 broad.mit.edu 37 7 128526435 128526435 + RNA DEL G G - TCGA-EJ-A7NH-01A-12D-A33T-08 TCGA-EJ-A7NH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e69e7f2-9350-438e-b4c0-66d28d1681a3 ad22411c-0db0-4ad6-8c80-4134cc51e7ed g.chr7:128526435delG ENST00000476647.2 - 0 2909 Q6ZWJ8 KCP_HUMAN kielin/chordin-like protein extracellular region central_nervous_system(1)|endometrium(3) 4 GAGAAGAGCTGGCTGAGGGGA 0.647 2 4 --- --- --- ---