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 SYNDIG1 79953 broad.mit.edu 37 20 24565546 24565546 + Missense_Mutation SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr20:24565546C>T ENST00000376862.3 + 3 1168 c.535C>T c.(535-537)Cgg>Tgg p.R179W SYNDIG1_ENST00000482637.1_3'UTR NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 179 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 GATGCCCCCGCGGGACCACCT 0.552000 12 106 0 0 1 0 0 S100A7L2 645922 broad.mit.edu 37 1 153409549 153409549 + Silent SNP G G A rs140750285 TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr1:153409549G>A ENST00000368725.2 - 3 323 c.324C>T c.(322-324)tcC>tcT p.S108S NM_001045479.1 NP_001038944.2 S100 calcium binding protein A7-like 2 NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GGCTTCCCCCGGAACAGGGTG 0.488000 45 95 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577570 7577570 + Missense_Mutation SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr17:7577570C>T ENST00000420246.2 - 7 843 c.711G>A c.(709-711)atG>atA p.M237I TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 237 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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) AACTGTTACACATGTAGTTGT 0.567000 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) 27 9 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210559664 210559664 + Missense_Mutation SNP A A G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr2:210559664A>G ENST00000360351.4 + 7 3276 c.2770A>G c.(2770-2772)Aga>Gga p.R924G MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R920G|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 924 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGCAGCCGGAAGAGTCAAAGA 0.453000 8 43 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53573131 53573131 + Missense_Mutation SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr19:53573131G>A ENST00000601421.1 - 3 1424 c.548C>T c.(547-549)cCa>cTa p.P183L ZNF160_ENST00000599056.1_Missense_Mutation_p.P219L|ZNF160_ENST00000418871.1_Missense_Mutation_p.P219L|ZNF160_ENST00000429604.1_Missense_Mutation_p.P219L Q9HCG1 ZN160_HUMAN zinc finger protein 160 219 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) TTGTTGAAGTGGTGACACTGA 0.383000 24 110 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157804238 157804238 + Missense_Mutation SNP T T G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr1:157804238T>G ENST00000368174.4 - 4 773 c.677A>C c.(676-678)aAc>aCc p.N226T NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 226 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GTTGCAGGTGTTCTTCCCCCA 0.493000 25 20 0 0 1 0 0 ZNRF3 84133 broad.mit.edu 37 22 29438481 29438481 + Splice_Site SNP A A G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr22:29438481A>G ENST00000544604.2 + 3 601 c.e3-1 ZNRF3_ENST00000402174.1_Splice_Site|ZNRF3_ENST00000332811.4_Splice_Site|ZNRF3_ENST00000406323.3_Splice_Site NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 TAACTCTGGCAGGCCAAGCGA 0.493000 17 15 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101944628 101944628 + Missense_Mutation SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr13:101944628G>A ENST00000251127.6 - 8 970 c.889C>T c.(889-891)Cgt>Tgt p.R297C NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R297C NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 297 integral to membrane sodium channel activity|voltage-gated ion channel activity p.R297C(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAGTAGGAACGCCAACGGGGA 0.458000 9 30 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50532018 50532018 + Silent SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr10:50532018C>T ENST00000374144.3 + 3 1716 c.1428C>T c.(1426-1428)aaC>aaT p.N476N C10orf71_ENST00000323868.4_Silent_p.N476N Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 476 endometrium(1) 1 GACAGCTAAACGGATACCAAG 0.572000 3 26 0 0 1 0 0 SUZ12P 0 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 6 140 0 0 1 0 0 DBX1 120237 broad.mit.edu 37 11 20178066 20178066 + Silent SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr11:20178066G>A ENST00000524983.2 - 4 1014 c.726C>T c.(724-726)cgC>cgT p.R242R DBX1_ENST00000227256.3_Silent_p.R281R A6NMT0 DBX1_HUMAN developing brain homeobox 1 242 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 ACAGGAGTTCGCGCTCCTTGG 0.622000 13 33 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151845693 151845693 + Missense_Mutation SNP T T C TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr7:151845693T>C ENST00000355193.2 - 53 13708 c.13490A>G c.(13489-13491)tAt>tGt p.Y4497C KMT2C_ENST00000262189.6_Missense_Mutation_p.Y4440C lysine (K)-specific methyltransferase 2C p.Y4497C(1)|p.Y4440C(1) CTGAGTCTCATAGACCTCCGT 0.507000 45 68 0 0 1 0 0 WDR13 64743 broad.mit.edu 37 X 48458010 48458010 + Missense_Mutation SNP A A T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chrX:48458010A>T ENST00000218056.5 + 4 933 c.428A>T c.(427-429)gAg>gTg p.E143V WDR13_ENST00000492715.1_3'UTR NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353.2 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 143 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 TCAGCAGCAGAGGCAAGTCGG 0.602000 34 12 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38950678 38950678 + Missense_Mutation SNP C C T rs138034948 byFrequency TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr3:38950678C>T ENST00000302328.3 - 9 1307 c.1109G>A c.(1108-1110)cGt>cAt p.R370H SCN11A_ENST00000456224.3_Missense_Mutation_p.R370H|SCN11A_ENST00000444237.2_Missense_Mutation_p.R370H|SCN11A_ENST00000450244.1_Missense_Mutation_p.R370H NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 370 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.R370H(2) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CCCAGTAGTACGCAGGGTCTG 0.453000 7 56 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284791 152284791 + Silent SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr1:152284791G>A ENST00000368799.1 - 3 2606 c.2571C>T c.(2569-2571)caC>caT p.H857H FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 857 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGATTGCTCGTGGTGGGACC 0.592000 Ichthyosis 161 220 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31022345 31022345 + Silent SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr20:31022345C>T ENST00000375687.4 + 13 2254 c.1830C>T c.(1828-1830)ggC>ggT p.G610G ASXL1_ENST00000306058.5_Silent_p.G605G NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 610 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.Q592fs*5(1)|p.G610G(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 GTTGGACTGGCGCCAGGACCC 0.632000 """F, N, Mis""" """MDS, CMML""" 35 39 0 0 1 0 0 GRIN2A 0 broad.mit.edu 37 16 10031896 10031896 + Missense_Mutation SNP C C G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr16:10031896C>G ENST00000396573.2 - 4 1236 c.927G>C c.(925-927)aaG>aaC p.K309N GRIN2A_ENST00000562109.1_Missense_Mutation_p.K309N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K152N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K309N NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 309 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGTAGGAGAACTTCTCCAGCA 0.572000 6 37 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3328822 3328822 + Silent SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr1:3328822C>T ENST00000378398.3 + 10 2146 c.2064C>T c.(2062-2064)ggC>ggT p.G688G PRDM16_ENST00000442529.2_Silent_p.G687G|PRDM16_ENST00000441472.2_Silent_p.G687G|PRDM16_ENST00000514189.1_Silent_p.G688G|PRDM16_ENST00000511072.1_Silent_p.G688G|PRDM16_ENST00000378391.2_Silent_p.G687G|PRDM16_ENST00000270722.5_Silent_p.G687G|PRDM16_ENST00000512462.1_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 687 Interaction with CTBP1 and CTBP2 (By similarity). brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CTGCAACGGGCGCCGCCGGGG 0.657000 T EVI1 """MDS, AML""" 18 43 0 0 1 0 0 TMEFF2 23671 broad.mit.edu 37 2 193059095 193059095 + Silent SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr2:193059095G>A ENST00000409056.3 - 1 155 c.156C>T c.(154-156)acC>acT p.T52T TMEFF2_ENST00000392314.1_Silent_p.T52T|TMEFF2_ENST00000272771.5_Silent_p.T52T Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 52 extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) AATTCCAGCCGGTGGGCGTTT 0.602000 4 101 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155507284 155507284 + Missense_Mutation SNP G G T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr4:155507284G>T ENST00000302053.3 - 5 1375 c.1297C>A c.(1297-1299)Ctg>Atg p.L433M FGA_ENST00000403106.3_Missense_Mutation_p.L433M NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 433 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GAAGTGACCAGTTTTTCTGTG 0.498000 34 65 4.23469e-30 4.87793e-30 1 1 0 LSM11 134353 broad.mit.edu 37 5 157181082 157181082 + Missense_Mutation SNP T T G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr5:157181082T>G ENST00000286307.5 + 3 715 c.659T>G c.(658-660)cTg>cGg p.L220R NM_173491.2 NP_775762.1 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 220 histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 7 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATTCTTCACTGACTCTCACT 0.473000 30 21 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128694737 128694737 + Missense_Mutation SNP C C A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr7:128694737C>A ENST00000393245.1 - 1 461 c.88G>T c.(88-90)Gcc>Tcc p.A30S TNPO3_ENST00000265388.5_Missense_Mutation_p.A30S|TNPO3_ENST00000482320.1_5'UTR|TNPO3_ENST00000471166.1_Missense_Mutation_p.A30S|TNPO3_ENST00000471234.1_Missense_Mutation_p.A30S NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 30 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 CAAAAAGAGGCGCGCTCCTTT 0.652000 19 14 2.4624e-09 2.69974e-09 1 1 0 ACTL9 284382 broad.mit.edu 37 19 8808029 8808029 + Silent SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr19:8808029G>A ENST00000324436.3 - 1 1143 c.1023C>T c.(1021-1023)tgC>tgT p.C341C NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 341 cytoplasm|cytoskeleton p.C341C(1) NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 AGGACCCACCGCAGAGAAGCA 0.672000 8 36 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122111518 122111518 + Silent SNP C C G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr7:122111518C>G ENST00000334010.7 - 13 2521 c.2100G>C c.(2098-2100)ctG>ctC p.L700L CADPS2_ENST00000412584.2_Silent_p.L696L|CADPS2_ENST00000449022.2_Silent_p.L699L|CADPS2_ENST00000313070.7_Silent_p.L696L NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 699 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 AATGTTCCATCAGTTCTGCAA 0.478000 11 15 0 0 1 0 0 IL3RA 3563 broad.mit.edu 37 X 1484095 1484095 + Missense_Mutation SNP G G A rs141828957 TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chrX:1484095G>A ENST00000331035.4 + 9 1173 c.824G>A c.(823-825)cGg>cAg p.R275Q IL3RA_ENST00000381469.2_Missense_Mutation_p.R197Q NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 275 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) ATAAGAGCCCGGGAAAGAGTG 0.577000 18 57 0 0 1 0 0 DEF8 54849 broad.mit.edu 37 16 90028534 90028534 + Splice_Site SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr16:90028534G>A ENST00000563594.1 + 9 1918 c.e9+1 DEF8_ENST00000563795.1_Splice_Site|DEF8_ENST00000570182.1_Splice_Site|DEF8_ENST00000567874.1_Splice_Site|DEF8_ENST00000268676.7_Splice_Site|DEF8_ENST00000569453.1_Splice_Site NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) GGAGATTCGCGTGAGGCTGGG 0.667000 4 23 0 0 1 0 0 RNF186 54546 broad.mit.edu 37 1 20141158 20141158 + Missense_Mutation SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr1:20141158C>T ENST00000375121.2 - 1 613 c.437G>A c.(436-438)aGt>aAt p.S146N RP11-91K11.2_ENST00000454736.1_RNA NM_019062.1 NP_061935.1 Q9NXI6 RN186_HUMAN ring finger protein 186 146 integral to membrane zinc ion binding kidney(1)|lung(3)|urinary_tract(1) 5 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GTGGTTTGCACTTACTTCATC 0.607000 5 80 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112022741 112022741 + Missense_Mutation SNP T T C TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chrX:112022741T>C ENST00000371959.3 - 10 2640 c.2641A>G c.(2641-2643)Atc>Gtc p.I881V AMOT_ENST00000371962.1_Missense_Mutation_p.I649V|AMOT_ENST00000304758.1_Missense_Mutation_p.I472V|AMOT_ENST00000524145.1_Missense_Mutation_p.I881V NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 881 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 ggaacagagatgggagcaaca 0.597000 14 4 0 0 1 0 0 DDX23 9416 broad.mit.edu 37 12 49225958 49225958 + Missense_Mutation SNP A A G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr12:49225958A>G ENST00000308025.3 - 15 2046 c.1967T>C c.(1966-1968)cTg>cCg p.L656P NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 656 Helicase C-terminal. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 CAAGATTGCCAGCAGCTTTTT 0.483000 24 52 0 0 1 0 0 HS1BP3 64342 broad.mit.edu 37 2 20824556 20824556 + Silent SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr2:20824556C>T ENST00000304031.3 - 5 745 c.720G>A c.(718-720)ggG>ggA p.G240G NM_022460.3 NP_071905.3 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 240 cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCAAAGAGCCCCTCATCAG 0.617000 4 45 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558913 113558913 + Missense_Mutation SNP C C G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr7:113558913C>G ENST00000284601.3 - 1 207 c.139G>C c.(139-141)Gat>Cat p.D47H NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 47 glycogen metabolic process integral to membrane p.D47Y(1) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TCAGAAGAATCAGAACCTCGT 0.368000 17 129 0 0 1 0 0 PROKR1 10887 broad.mit.edu 37 2 68882361 68882361 + Missense_Mutation SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr2:68882361C>T ENST00000303786.3 + 3 1255 c.835C>T c.(835-837)Cgc>Tgc p.R279C PROKR1_ENST00000394342.2_Missense_Mutation_p.R279C Q8TCW9 PKR1_HUMAN prokineticin receptor 1 279 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCTGCGCTGCCGCAGGAAGAC 0.622000 23 18 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118525452 118525452 + Silent SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr5:118525452G>A ENST00000311085.8 + 29 7265 c.7185G>A c.(7183-7185)ccG>ccA p.P2395P DMXL1_ENST00000539542.1_Silent_p.P2395P NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2395 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GTTTTAGGCCGTCAAAAATGT 0.408000 3 94 0 0 1 0 0 CWF19L1 55280 broad.mit.edu 37 10 102005616 102005616 + Missense_Mutation SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr10:102005616G>A ENST00000354105.4 - 9 990 c.904C>T c.(904-906)Cgt>Tgt p.R302C CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.R57C NM_018294.4 NP_060764.3 Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control (S. pombe) 302 catalytic activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2) 17 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) GTGGATGAACGCTTCCTTCCC 0.398000 37 32 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92592421 92592421 + Missense_Mutation SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr11:92592421G>A ENST00000298047.6 + 20 11608 c.11591G>A c.(11590-11592)cGt>cAt p.R3864H FAT3_ENST00000533797.1_Missense_Mutation_p.R199H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3864H|FAT3_ENST00000525166.1_Missense_Mutation_p.R3714H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3864 Laminin G-like. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTAGCTCTGCGTCTTCGAACA 0.393000 TCGA Ovarian(4;0.039) 16 15 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3227766 3227766 + Missense_Mutation SNP G G C TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chrX:3227766G>C ENST00000217939.6 - 7 8632 c.8478C>G c.(8476-8478)caC>caG p.H2826Q NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2826 Ig-like C2-type 12. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TTCAGAAGACGTGGATGTAAG 0.458000 14 2 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34854317 34854317 + Silent SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr17:34854317C>T ENST00000431794.3 - 25 3072 c.2550G>A c.(2548-2550)tcG>tcA p.S850S ZNHIT3_ENST00000588253.1_3'UTR|MYO19_ENST00000268852.9_Silent_p.S650S NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 850 Mitochondrial targeting. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TCTGCAGCGGCGAGGTGCTCA 0.537000 33 32 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122930210 122930210 + Missense_Mutation SNP T T C TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr11:122930210T>C ENST00000534624.1 - 5 1367 c.1091A>G c.(1090-1092)aAc>aGc p.N364S HSPA8_ENST00000227378.3_Missense_Mutation_p.N364S|HSPA8_ENST00000526110.1_Missense_Mutation_p.N345S|HSPA8_ENST00000534319.1_Missense_Mutation_p.N128S|HSPA8_ENST00000533540.1_Missense_Mutation_p.N218S|HSPA8_ENST00000532636.1_Missense_Mutation_p.N364S|HSPA8_ENST00000453788.2_Missense_Mutation_p.N364S|HSPA8_ENST00000526862.1_5'UTR NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 364 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TTCATCAGGGTTGATGCTCTT 0.438000 13 112 0 0 1 0 0 TMEM140 55281 broad.mit.edu 37 7 134849221 134849221 + Missense_Mutation SNP G G A rs151072952 TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr7:134849221G>A ENST00000275767.2 + 2 251 c.28G>A c.(28-30)Gac>Aac p.D10N C7orf49_ENST00000459937.1_Intron NM_018295.4 NP_060765.4 Q9NV12 TM140_HUMAN transmembrane protein 140 10 integral to membrane kidney(1)|large_intestine(2)|lung(2) 5 TCGGTGGCGCGACCAGCTGCT 0.597000 22 61 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48280530 48280530 + Nonsense_Mutation SNP G G T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr7:48280530G>T ENST00000435803.1 + 10 1153 c.1129G>T c.(1129-1131)Gag>Tag p.E377* NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 377 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CCATAGTCTGGAGGCTCTCAG 0.493000 23 38 2.98393e-07 3.19456e-07 1 1 0 SZT2 23334 broad.mit.edu 37 1 43888957 43888957 + Missense_Mutation SNP T T C TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr1:43888957T>C ENST00000562955.1 + 15 2225 c.2225T>C c.(2224-2226)cTg>cCg p.L742P SZT2_ENST00000372442.1_5'UTR NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 742 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CTTGTGGTCCTGCATAAGCCA 0.627000 3 31 0 0 1 0 0 PRKAR1B 5575 broad.mit.edu 37 7 720338 720338 + Missense_Mutation SNP C C T rs140110814 TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr7:720338C>T ENST00000406797.1 - 3 377 c.203G>A c.(202-204)cGg>cAg p.R68Q PRKAR1B_ENST00000537384.1_Missense_Mutation_p.R68Q|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.R68Q|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.R68Q|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.R68Q NM_001164761.1 NP_001158233.1 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type I, beta 68 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1) 17 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) TGACTTTTGCCGCGCCAAAAT 0.607000 3 50 0 0 1 0 0 BICD1 636 broad.mit.edu 37 12 32481322 32481322 + Silent SNP C C A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr12:32481322C>A ENST00000548411.1 + 5 2114 c.1933C>A c.(1933-1935)Cgg>Agg p.R645R BICD1_ENST00000281474.5_Silent_p.R645R NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 645 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AGCTGTGGACCGGTCCTTGCA 0.468000 40 50 1.07121e-22 1.2185e-22 1 1 0 OR10G8 219869 broad.mit.edu 37 11 123900428 123900428 + Silent SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr11:123900428C>T ENST00000431524.1 + 1 132 c.99C>T c.(97-99)taC>taT p.Y33Y NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGGTGGTTTACGTGCTCACTG 0.572000 5 188 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96540343 96540343 + Missense_Mutation SNP A A C TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr10:96540343A>C ENST00000371321.3 + 4 651 c.569A>C c.(568-570)aAa>aCa p.K190T CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 190 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TTCGATTATAAAGATCAGCAA 0.418000 101 88 0 0 1 0 0 BRIP1 83990 broad.mit.edu 37 17 59760933 59760933 + Missense_Mutation SNP C C A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr17:59760933C>A ENST00000259008.2 - 20 3741 c.3474G>T c.(3472-3474)ttG>ttT p.L1158F NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 1158 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 AATTGTTAGCCAATCTATTTC 0.333000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 17 47 1.02788e-11 1.1407e-11 1 1 0 JAK3 3718 broad.mit.edu 37 19 17950368 17950368 + Silent SNP G G T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr19:17950368G>T ENST00000458235.1 - 10 1458 c.1359C>A c.(1357-1359)ctC>ctA p.L453L JAK3_ENST00000534444.1_Silent_p.L453L|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Silent_p.L453L NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 453 SH2; atypical. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 AGGTTGCCAGGAGCTCTCGAA 0.627000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 5 6 3.59834e-05 3.76378e-05 1 1 0 SMEK2 57223 broad.mit.edu 37 2 55825874 55825874 + Missense_Mutation SNP C C G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr2:55825874C>G ENST00000272313.5 - 4 926 c.599G>C c.(598-600)gGa>gCa p.G200A SMEK2_ENST00000407823.3_Missense_Mutation_p.G200A|SMEK2_ENST00000345102.5_Missense_Mutation_p.G200A NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) 200 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GAATAAGATTCCTCTAATAAT 0.373000 23 53 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043950 20043950 + Missense_Mutation SNP T T C TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr16:20043950T>C ENST00000570682.1 - 2 469 c.169A>G c.(169-171)Aga>Gga p.R57G NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 57 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 TTCTGTCTTCTTGCCACCAGC 0.458000 13 21 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4457112 4457112 + Missense_Mutation SNP A A T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr17:4457112A>T ENST00000254718.4 - 5 860 c.554T>A c.(553-555)cTc>cAc p.L185H MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L185H Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 185 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 TACCTCGGAGAGGATGTCCAC 0.592000 28 8 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47920335 47920335 + Missense_Mutation SNP C C A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr7:47920335C>A ENST00000289672.2 - 21 3561 c.3511G>T c.(3511-3513)Gtg>Ttg p.V1171L NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1171 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CCCACAGACACTTGCAGGACG 0.473000 6 55 6.31663e-08 6.84301e-08 1 1 0 STAU2 27067 broad.mit.edu 37 8 74529544 74529544 + Missense_Mutation SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr8:74529544G>A ENST00000355780.5 - 6 675 c.457C>T c.(457-459)Cca>Tca p.P153S STAU2_ENST00000519961.1_Missense_Mutation_p.P185S|STAU2_ENST00000523558.1_Missense_Mutation_p.P13S|STAU2_ENST00000517542.1_Missense_Mutation_p.P147S|STAU2_ENST00000522509.1_Missense_Mutation_p.P153S|STAU2_ENST00000524300.1_Missense_Mutation_p.P185S|STAU2_ENST00000522695.1_Missense_Mutation_p.P153S|STAU2_ENST00000521210.1_Missense_Mutation_p.P81S|STAU2_ENST00000521727.1_Missense_Mutation_p.P165S|STAU2_ENST00000521451.1_5'UTR NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 185 DRBM 2. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) GATCTTTCTGGAATAGGTTCA 0.398000 10 30 0 0 1 0 0 OR3A1 4994 broad.mit.edu 37 17 3195619 3195619 + Silent SNP A A G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr17:3195619A>G ENST00000323404.1 - 1 257 c.258T>C c.(256-258)agT>agC p.S86S RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 ACAGGAGACGACTCAACATTG 0.562000 15 8 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17950369 17950369 + Missense_Mutation SNP A A T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr19:17950369A>T ENST00000458235.1 - 10 1457 c.1358T>A c.(1357-1359)cTc>cAc p.L453H JAK3_ENST00000534444.1_Missense_Mutation_p.L453H|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Missense_Mutation_p.L453H NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 453 SH2; atypical. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 GGTTGCCAGGAGCTCTCGAAG 0.627000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 5 6 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62293657 62293657 + Missense_Mutation SNP C C A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr11:62293657C>A ENST00000378024.4 - 5 8506 c.8232G>T c.(8230-8232)aaG>aaT p.K2744N AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2744 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CTTTTGGGCCCTTGATGTCAA 0.478000 4 272 0.00024832 0.000256785 1 1 0 ZNF76 7629 broad.mit.edu 37 6 35259145 35259145 + Missense_Mutation SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr6:35259145C>T ENST00000373953.3 + 8 982 c.716C>T c.(715-717)tCa>tTa p.S239L ZNF76_ENST00000440666.2_Missense_Mutation_p.S213L|ZNF76_ENST00000339411.5_Missense_Mutation_p.S239L NM_003427.3 NP_003418.2 P36508 ZNF76_HUMAN zinc finger protein 76 239 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 TTCAAGACCTCAGGAGACCTG 0.552000 12 7 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24924310 24924310 + Missense_Mutation SNP G G T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr15:24924310G>T ENST00000329468.2 + 1 3770 c.3296G>T c.(3295-3297)tGc>tTc p.C1099F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CAGAATTCATGCAGTGGTATG 0.507000 69 101 1.62403e-39 1.89471e-39 1 1 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 4 89 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123215894 123215894 + Missense_Mutation SNP G G A rs112982005 byFrequency TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr9:123215894G>A ENST00000349780.4 - 21 2812 c.2633C>T c.(2632-2634)aCg>aTg p.T878M CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.T846M|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.T878M|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.T878M NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 878 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 GTCGCCCTCCGTGGCCACAGT 0.542000 56 46 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234237211 234237211 + Missense_Mutation SNP C C G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr2:234237211C>G ENST00000409110.1 + 8 830 c.600C>G c.(598-600)ttC>ttG p.F200L SAG_ENST00000449594.2_Missense_Mutation_p.F66L NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 200 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) CCTGGCAGTTCTTCATGTCTG 0.602000 13 40 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 114968071 114968071 + Splice_Site SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr1:114968071C>T ENST00000358465.2 - 9 1778 c.1695_splice c.e9+1 p.Q565_splice TRIM33_ENST00000450349.2_Splice_Site_p.Q173_splice|TRIM33_ENST00000369543.2_Splice_Site_p.Q565_splice NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 565 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CGATACTTACCTGTTGTTGTA 0.383000 T RET papillary thyroid 42 85 0 0 1 0 0 IRF6 3664 broad.mit.edu 37 1 209974625 209974625 + Missense_Mutation SNP C C T rs121434229 TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr1:209974625C>T ENST00000367021.3 - 3 306 c.134G>A c.(133-135)cGg>cAg p.R45Q IRF6_ENST00000542854.1_Intron NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 45 R -> Q (in VWS). cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) AGGGCTATGCCGGGTGGCATG 0.468000 HNSCC(57;0.16) 20 80 0 0 1 0 0 TTC7B 145567 broad.mit.edu 37 14 91059906 91059906 + Silent SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr14:91059906C>T ENST00000357056.2 - 19 2203 c.2082G>A c.(2080-2082)tcG>tcA p.S694S TTC7B_ENST00000328459.6_Silent_p.S677S|TTC7B_ENST00000554654.1_5'UTR Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 677 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) TCTGCAGAGACGAAGCCACTT 0.607000 3 60 0 0 1 0 0 CNOT4 4850 broad.mit.edu 37 7 135106950 135106950 + Missense_Mutation SNP G G T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr7:135106950G>T ENST00000428680.2 - 3 606 c.327C>A c.(325-327)aaC>aaA p.N109K CNOT4_ENST00000423368.2_Missense_Mutation_p.N109K|CNOT4_ENST00000356162.4_Missense_Mutation_p.N109K|CNOT4_ENST00000541284.1_Missense_Mutation_p.N109K|CNOT4_ENST00000414802.1_Missense_Mutation_p.N109K|CNOT4_ENST00000451834.1_Missense_Mutation_p.N109K|CNOT4_ENST00000361528.4_Missense_Mutation_p.N109K|CNOT4_ENST00000315544.5_Missense_Mutation_p.N109K NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 109 RRM. nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 CAAAGACGAGGTTTTTTTGTA 0.353000 42 54 1.51926e-22 1.70682e-22 1 1 0 GRK4 2868 broad.mit.edu 37 4 3029648 3029648 + Missense_Mutation SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr4:3029648G>A ENST00000398052.4 + 11 1323 c.980G>A c.(979-981)cGg>cAg p.R327Q GRK4_ENST00000345167.6_Missense_Mutation_p.R295Q|GRK4_ENST00000504933.1_Missense_Mutation_p.R327Q|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000398051.4_Missense_Mutation_p.R295Q NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 327 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGACACATCCGGATTTCAGAC 0.483000 15 44 0 0 1 0 0 SNX25 83891 broad.mit.edu 37 4 186241903 186241903 + Missense_Mutation SNP A A G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr4:186241903A>G ENST00000504273.1 + 8 1163 c.869A>G c.(868-870)gAt>gGt p.D290G SNX25_ENST00000264694.8_Missense_Mutation_p.D290G|SNX25_ENST00000512853.1_3'UTR Q9H3E2 SNX25_HUMAN sorting nexin 25 290 RGS. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) CAGTTTGAAGATATCTTGGCC 0.328000 20 35 0 0 1 0 0 RTP1 132112 broad.mit.edu 37 3 186917361 186917361 + Missense_Mutation SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr3:186917361C>T ENST00000312295.4 + 2 325 c.295C>T c.(295-297)Cac>Tac p.H99Y RP11-208N14.4_ENST00000356133.3_RNA NM_153708.2 NP_714919.2 P59025 RTP1_HUMAN receptor (chemosensory) transporter protein 1 99 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) CTGGTGCTGGCACACCTGGCA 0.647000 34 57 0 0 1 0 0 MXI1 4601 broad.mit.edu 37 10 112039789 112039789 + Nonsense_Mutation SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr10:112039789C>T ENST00000332674.5 + 5 874 c.670C>T c.(670-672)Cga>Tga p.R224* MXI1_ENST00000485566.1_3'UTR|MXI1_ENST00000361248.4_Nonsense_Mutation_p.R111*|MXI1_ENST00000239007.7_Nonsense_Mutation_p.R157*|MXI1_ENST00000393134.1_Nonsense_Mutation_p.R147*|MXI1_ENST00000369612.1_Nonsense_Mutation_p.R121* NM_130439.3 NP_569157.2 P50539 MXI1_HUMAN MAX interactor 1, dimerization protein 157 cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity p.R224*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1) 10 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127) GGAACGAATACGAATGGACAG 0.443000 11 19 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 4 29 0 0 1 0 0 DNA2 1763 broad.mit.edu 37 10 70196776 70196776 + Silent SNP T T C TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr10:70196776T>C ENST00000399180.2 - 10 1895 c.1896A>G c.(1894-1896)ttA>ttG p.L632L DNA2_ENST00000358410.3_Silent_p.L546L|DNA2_ENST00000399179.2_Silent_p.L546L P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 546 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 ACCTGTCTAATAAACAAGTTA 0.333000 46 59 0 0 1 0 0 REXO1L1 254958 broad.mit.edu 37 8 86573795 86573795 + Silent SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr8:86573795G>A ENST00000379010.2 - 1 1931 c.1932C>T c.(1930-1932)agC>agT p.S644S NM_172239.4 NP_758439.4 Q8IX06 GOR_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 644 S -> N (in Ref. 2; AAN77012). cytoplasm|nucleus exonuclease activity|nucleic acid binding endometrium(1)|lung(4) 5 GCAGGCAGGCGCTTGCGTCCT 0.672000 5 52 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4925224 4925224 + Silent SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chrY:4925224C>T ENST00000333703.4 + 4 840 c.327C>T c.(325-327)ggC>ggT p.G109G PCDH11Y_ENST00000362095.5_Silent_p.G120G|PCDH11Y_ENST00000215473.6_Silent_p.G120G NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 120 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TCACTACCGGCGCTCGCATTG 0.448000 46 34 0 0 1 0 0 SOX6 55553 broad.mit.edu 37 11 16117662 16117662 + Silent SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr11:16117662C>T ENST00000352083.6 - 9 1058 c.981G>A c.(979-981)aaG>aaA p.K327K SOX6_ENST00000396356.3_Silent_p.K327K|SOX6_ENST00000528429.1_Silent_p.K327K|SOX6_ENST00000528252.1_Intron|SOX6_ENST00000527619.1_Intron|SOX6_ENST00000316399.6_Silent_p.K327K P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 327 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 AGACATGACCCTTCTGTTTAG 0.398000 26 41 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72828630 72828630 + Nonsense_Mutation SNP C C A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr16:72828630C>A ENST00000268489.5 - 9 8623 c.7951G>T c.(7951-7953)Gaa>Taa p.E2651* ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E1737* NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2651 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.E2651Q(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TCTAGTTGTTCCGGTGTGATG 0.498000 10 318 2.17888e-05 2.30556e-05 1 1 0 SHE 126669 broad.mit.edu 37 1 154459160 154459160 + Splice_Site SNP C C G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr1:154459160C>G ENST00000304760.2 - 4 1111 c.e4-1 NM_001010846.2 NP_001010846.1 Q5VZ18 SHE_HUMAN Src homology 2 domain containing E breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 14 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TCAAACTGGACTGGAAGGAAG 0.542000 23 20 0 0 1 0 0 ISL2 64843 broad.mit.edu 37 15 76632802 76632802 + Silent SNP C C A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr15:76632802C>A ENST00000290759.4 + 4 857 c.697C>A c.(697-699)Cgg>Agg p.R233R RP11-685G9.2_ENST00000559539.1_RNA NM_145805.1 NP_665804.1 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 233 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 CCTGAGCCCGCGGGTCATCCG 0.617000 9 24 0.000673444 0.000688578 1 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125521584 125521584 + Frame_Shift_Del DEL C C - TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr2:125521584delC ENST00000431078.1 + 16 2754 c.2390delC c.(2389-2391)aafs p.T797fs NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 797 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TCATTTTATACAGAAGCCTCT 0.433 51 57 --- --- --- ---