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 HDAC8 55869 broad.mit.edu 37 X 71792627 71792627 + Translation_Start_Site SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chrX:71792627G>A ENST00000439122.2 - 0 271 HDAC8_ENST00000373589.4_De_novo_Start_OutOfFrame|HDAC8_ENST00000373556.3_De_novo_Start_OutOfFrame|HDAC8_ENST00000373571.1_De_novo_Start_OutOfFrame|HDAC8_ENST00000373560.2_De_novo_Start_OutOfFrame|HDAC8_ENST00000429103.2_De_novo_Start_OutOfFrame|HDAC8_ENST00000373561.4_De_novo_Start_OutOfFrame|HDAC8_ENST00000373583.1_De_novo_Start_OutOfFrame|HDAC8_ENST00000373559.4_De_novo_Start_OutOfFrame|HDAC8_ENST00000373573.3_De_novo_Start_OutOfFrame|HDAC8_ENST00000373554.1_De_novo_Start_OutOfFrame|HDAC8_ENST00000478743.1_5'UTR NM_001166419.1 NP_001159891.1 Q9BY41 HDAC8_HUMAN histone deacetylase 8 chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) GCTTAAAACCGTTCCGCAGCC 0.577000 9 22 0 0 1 0 0 KIAA1045 23349 broad.mit.edu 37 9 34976210 34976210 + Missense_Mutation SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr9:34976210G>A ENST00000242315.3 + 4 708 c.626G>A c.(625-627)cGg>cAg p.R209Q KIAA1045_ENST00000544237.1_Missense_Mutation_p.R209Q|KIAA1045_ENST00000476115.2_3'UTR NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 209 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) ACCTTTCAGCGGTGTAAAGTC 0.507000 14 34 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 87 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42356613 42356613 + Missense_Mutation SNP C C A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr14:42356613C>A ENST00000554171.1 + 5 3217 c.785C>A c.(784-786)aCc>aAc p.T262N LRFN5_ENST00000554120.1_Missense_Mutation_p.T262N|LRFN5_ENST00000298119.4_Missense_Mutation_p.T262N Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 262 LRRCT. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GACTTAGAGACCTGTGCTTCT 0.443000 HNSCC(30;0.082) 45 90 1.30916e-28 1.42975e-28 1 1 0 ACRC 93953 broad.mit.edu 37 X 70823742 70823742 + Silent SNP C C T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chrX:70823742C>T ENST00000373695.1 + 7 1152 c.615C>T c.(613-615)tcC>tcT p.S205S ACRC_ENST00000373696.3_Silent_p.S205S Q96QF7 ACRC_HUMAN acidic repeat containing 205 Asp/Ser-rich. nucleus p.S205S(1) autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) ATGATTCATCCGACGACAACA 0.498000 188 256 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32137594 32137594 + Silent SNP A A G TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr12:32137594A>G ENST00000312561.4 + 4 4119 c.3705A>G c.(3703-3705)gtA>gtG p.V1235V KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639 KIAA1551 AGAGCCTTGTAAATAATCCAA 0.368000 17 34 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 4 44 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32730212 32730212 + Missense_Mutation SNP C C T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr2:32730212C>T ENST00000421745.2 + 50 9774 c.9640C>T c.(9640-9642)Ctt>Ttt p.L3214F NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3214 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TACCATTCACCTTCCTGCAGC 0.468000 3 6 0 0 1 0 0 NKRF 55922 broad.mit.edu 37 X 118725222 118725222 + Missense_Mutation SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chrX:118725222G>A ENST00000371527.1 - 2 818 c.166C>T c.(166-168)Cgt>Tgt p.R56C NKRF_ENST00000304449.5_Missense_Mutation_p.R56C|NKRF_ENST00000487600.1_5'UTR|NKRF_ENST00000542113.1_Missense_Mutation_p.R71C NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 56 Active repression domain. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 GGCTCAAAACGAGGTCTCGCA 0.353000 30 73 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70065826 70065826 + RNA SNP T T C rs3169319 by1000genomes TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr16:70065826T>C ENST00000531894.1 - 0 796 NR_003610.1 p.M209V(4) GATCCAAACATAGTGTTACAG 0.453000 3 62 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533552 533552 + Missense_Mutation SNP C C G TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr11:533552C>G ENST00000417302.1 - 4 538 c.351G>C c.(349-351)aaG>aaC p.K117N HRAS_ENST00000451590.1_Missense_Mutation_p.K117N|HRAS_ENST00000311189.7_Missense_Mutation_p.K117N|HRAS_ENST00000397596.2_Missense_Mutation_p.K117N|HRAS_ENST00000397594.1_Missense_Mutation_p.K117N NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 117 K -> R (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.K117N(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CCAGGTCACACTTGTTCCCCA 0.632000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 29 55 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70446399 70446399 + Missense_Mutation SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr10:70446399G>A ENST00000373644.4 + 11 5548 c.5339G>A c.(5338-5340)cGa>cAa p.R1780Q NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1780 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CCTATTCCCCGAATCAAGCGG 0.473000 9 49 0 0 1 0 0 TFIP11 24144 broad.mit.edu 37 22 26902780 26902780 + Silent SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr22:26902780G>A ENST00000407690.1 - 5 607 c.324C>T c.(322-324)gaC>gaT p.D108D TFIP11_ENST00000405938.1_Silent_p.D108D|TFIP11_ENST00000407431.1_Silent_p.D108D|TFIP11_ENST00000407148.1_Silent_p.D108D NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 108 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 TAGGAAAGTCGTCCTGCTTAA 0.493000 10 69 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20576155 20576155 + Nonsense_Mutation SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr16:20576155G>A ENST00000329697.6 - 2 181 c.13C>T c.(13-15)Cga>Tga p.R5* ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R5* NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 5 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding p.R5*(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TGAACTTTTCGCAGCCAATGC 0.493000 19 26 0 0 1 0 0 RHOA 387 broad.mit.edu 37 3 49412941 49412941 + Missense_Mutation SNP C C T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr3:49412941C>T ENST00000418115.1 - 2 466 c.82G>A c.(82-84)Gac>Aac p.D28N RHOA_ENST00000422781.1_Missense_Mutation_p.D28N|RHOA_ENST00000454011.2_Missense_Mutation_p.D28N NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 28 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) GGGAACTGGTCCTTGCTGAAG 0.463000 42 54 0 0 1 0 0 AAR2 25980 broad.mit.edu 37 20 34843607 34843607 + Silent SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr20:34843607G>A ENST00000373932.3 + 4 1441 c.1095G>A c.(1093-1095)gcG>gcA p.A365A AAR2_ENST00000320849.4_Silent_p.A365A|AAR2_ENST00000397286.3_Intron NM_015511.3 NP_056326.2 AAR2 splicing factor homolog (S. cerevisiae) ACTTTGCTGCGGAACCTGAGG 0.602000 23 78 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7177887 7177887 + Missense_Mutation SNP C C T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr12:7177887C>T ENST00000406697.1 + 15 2627 c.1999C>T c.(1999-2001)Cgg>Tgg p.R667W C1S_ENST00000402681.3_Missense_Mutation_p.R500W|C1S_ENST00000328916.3_Missense_Mutation_p.R667W|C1S_ENST00000360817.5_Missense_Mutation_p.R667W P09871 C1S_HUMAN complement component 1, s subcomponent 667 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GCTCTACACACGGGTAAAGAA 0.532000 8 134 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87965501 87965501 + Missense_Mutation SNP G G C TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr6:87965501G>C ENST00000369577.3 + 8 2197 c.2154G>C c.(2152-2154)caG>caC p.Q718H ZNF292_ENST00000339907.4_Missense_Mutation_p.Q713H NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TTGAAATGCAGAGCAAAAAAG 0.363000 11 30 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171509628 171509628 + Missense_Mutation SNP A A C TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr1:171509628A>C ENST00000367742.3 + 16 3265 c.3023A>C c.(3022-3024)aAt>aCt p.N1008T PRRC2C_ENST00000426496.2_Missense_Mutation_p.N1006T|PRRC2C_ENST00000392078.3_Missense_Mutation_p.N1008T|PRRC2C_ENST00000338920.4_Missense_Mutation_p.N1006T Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1006 protein C-terminus binding GAAGAAGTTAATGATAGACCT 0.413000 6 17 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123526165 123526165 + Missense_Mutation SNP C C G TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chrX:123526165C>G ENST00000422452.2 - 28 5488 c.5425G>C c.(5425-5427)Gat>Cat p.D1809H STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.D1802H NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GTTATATGATCAAAATCTATG 0.423000 30 51 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661208 22661208 + RNA SNP C C T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr22:22661208C>T ENST00000426066.1 + 0 300 NR_027293.1 CTGAATCATGCAGAATTTGAA 0.408000 5 42 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 205829980 205829980 + Missense_Mutation SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr2:205829980G>A ENST00000406610.2 + 3 535 c.328G>A c.(328-330)Gcc>Acc p.A110T PARD3B_ENST00000351153.1_Missense_Mutation_p.A110T|PARD3B_ENST00000349953.3_Missense_Mutation_p.A110T|PARD3B_ENST00000358768.2_Missense_Mutation_p.A110T|PARD3B_ENST00000462231.1_Missense_Mutation_p.A110T NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 110 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) AGAAGTGGCCGCCCAACTGGC 0.473000 21 21 0 0 1 0 0 SERINC4 619189 broad.mit.edu 37 15 44090131 44090131 + Missense_Mutation SNP A A C TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr15:44090131A>C ENST00000319327.6 - 5 853 c.619T>G c.(619-621)Tgg>Ggg p.W207G SERF2_ENST00000409646.1_Intron|RP11-296A16.1_ENST00000417761.2_Missense_Mutation_p.W86G|SERF2_ENST00000409291.1_Intron|SERINC4_ENST00000249714.3_Silent_p.P33P|HYPK_ENST00000406925.1_5'UTR|SERF2_ENST00000594896.1_Intron|SERINC4_ENST00000299969.6_Missense_Mutation_p.W207G NM_001258031.1 NP_001244960.1 A6NH21 SERC4_HUMAN serine incorporator 4 207 phospholipid biosynthetic process integral to membrane central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 6 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) GBM - Glioblastoma multiforme(94;7.81e-07) TTCTTGTTCCAGGAATGGGCA 0.493000 OREG0003944 type=REGULATORY REGION|Gene=AK094716|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 12 24 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42340064 42340064 + Silent SNP G G A rs55786369 TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr17:42340064G>A ENST00000262418.6 - 3 201 c.46C>T c.(46-48)Ctg>Ttg p.L16L AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 16 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TCCTGCTCCAGATTCTCCTCC 0.587000 7 19 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94745992 94745992 + Missense_Mutation SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr8:94745992G>A ENST00000399300.2 - 3 2860 c.2647C>T c.(2647-2649)Cgc>Tgc p.R883C RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R763C NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 883 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) ACAAAAGGGCGGTGACTTCTA 0.468000 71 277 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195507876 195507876 + Missense_Mutation SNP G G C TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr3:195507876G>C ENST00000463781.3 - 2 11034 c.10575C>G c.(10573-10575)gaC>gaG p.D3525E MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D3525E|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 322 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.D3525E(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTGAGGAAGTGTCGGTGACAG 0.602000 3 4 0 0 1 0 0 IBSP 3381 broad.mit.edu 37 4 88732624 88732624 + Silent SNP C C T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr4:88732624C>T ENST00000226284.5 + 7 583 c.516C>T c.(514-516)aaC>aaT p.N172N NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 172 Asp/Glu-rich (acidic). biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) TGGATGAAAACGAACAAGGCA 0.453000 8 19 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19656757 19656757 + Missense_Mutation SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr19:19656757G>A ENST00000586018.1 + 8 3523 c.3421G>A c.(3421-3423)Gag>Aag p.E1141K CILP2_ENST00000291495.5_Missense_Mutation_p.E1135K Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 1135 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GGAGATGAGCGAGGCGGCGCA 0.721000 4 11 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136068032 136068032 + Missense_Mutation SNP C C T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr3:136068032C>T ENST00000383202.2 - 29 3495 c.3239G>A c.(3238-3240)gGa>gAa p.G1080E STAG1_ENST00000434713.2_Missense_Mutation_p.G820E|STAG1_ENST00000236698.5_Missense_Mutation_p.G1080E|STAG1_ENST00000536929.1_Missense_Mutation_p.G664E NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 1080 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 TGGAGGTCGTCCTTTCTTATT 0.368000 8 85 0 0 1 0 0 NOXRED1 122945 broad.mit.edu 37 14 77873002 77873002 + Silent SNP A A C TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr14:77873002A>C ENST00000298358.3 - 4 746 c.747T>G c.(745-747)tcT>tcG p.S249S NOXRED1_ENST00000380835.2_Intron Q6NXP6 CN148_HUMAN NADP-dependent oxidoreductase domain containing 1 0 proline biosynthetic process binding|pyrroline-5-carboxylate reductase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 TGATTTAATAAGATAGCAATG 0.448000 10 18 0 0 1 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20212356 20212356 + Missense_Mutation SNP A A G TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chrX:20212356A>G ENST00000379565.3 - 6 644 c.437T>C c.(436-438)aTt>aCt p.I146T RPS6KA3_ENST00000379548.4_Missense_Mutation_p.I117T|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.I118T|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.I118T NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 146 Protein kinase 1. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 AAAATCCAAAATAAGATACAA 0.303000 25 29 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2293619 2293619 + Missense_Mutation SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr20:2293619G>A ENST00000381458.5 + 5 679 c.616G>A c.(616-618)Gat>Aat p.D206N NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 206 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) CGCTGCTACTGATGTGGCCAG 0.463000 18 56 0 0 1 0 0 P2RX7 5027 broad.mit.edu 37 12 121622238 121622238 + Missense_Mutation SNP C C T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr12:121622238C>T ENST00000328963.5 + 12 1365 c.911C>T c.(910-912)cCc>cTc p.P304L P2RX7_ENST00000541446.1_Missense_Mutation_p.P185L|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Missense_Mutation_p.P384L|P2RX7_ENST00000546057.1_Missense_Mutation_p.P474L A8K2Z0 A8K2Z0_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 474 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGGGATAGCCCCGTCTGGTGC 0.617000 14 15 0 0 1 0 0 SEPT9 10801 broad.mit.edu 37 17 75398398 75398398 + Missense_Mutation SNP A A C TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr17:75398398A>C ENST00000329047.8 + 2 1092 c.280A>C c.(280-282)Att>Ctt p.I94L SEPT9_ENST00000427177.1_Missense_Mutation_p.I112L|SEPT9_ENST00000591198.1_Missense_Mutation_p.I93L|SEPT9_ENST00000423034.2_Missense_Mutation_p.I105L|SEPT9_ENST00000590294.1_Missense_Mutation_p.I94L|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000431235.2_5'UTR NM_006640.4 NP_006631.2 Q9UHD8 SEPT9_HUMAN septin 9 112 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) TGAGCTGTCCATTGACATCTC 0.692000 10 21 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138599733 138599733 + Silent SNP G G A rs144684061 TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr6:138599733G>A ENST00000251691.4 + 13 2440 c.2274G>A c.(2272-2274)ccG>ccA p.P758P NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 758 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GGAAGCGGCCGACCCTGGCGC 0.607000 17 31 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3716824 3716824 + Missense_Mutation SNP A A C TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr11:3716824A>C ENST00000324932.7 - 26 4442 c.4022T>G c.(4021-4023)cTt>cGt p.L1341R NUP98_ENST00000359171.4_Missense_Mutation_p.L1341R|NUP98_ENST00000488828.1_5'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.L1341R NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1358 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AAGAAGAGCAAGACGATGATC 0.458000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 28 22 0 0 1 0 0 SART3 9733 broad.mit.edu 37 12 108917236 108917236 + Nonstop_Mutation SNP A A G TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr12:108917236A>G ENST00000228284.3 - 19 3124 c.2890T>C c.(2890-2892)Tga>Cga p.*964R SART3_ENST00000431469.2_Nonstop_Mutation_p.*928R NM_014706.3 NP_055521.1 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T cells 3 0 RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 CGTCCCGTTCACTTTCTCAGA 0.622000 Porokeratosis 18 50 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820975 106820975 + Splice_Site SNP C C T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr12:106820975C>T ENST00000228347.4 + 13 1324 c.1102C>T c.(1102-1104)Ctt>Ttt p.L368F POLR3B_ENST00000539066.1_Splice_Site_p.L310F|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 368 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L368F(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTTTTTTAGCTTTTATCTCT 0.274000 5 18 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179635976 179635976 + Missense_Mutation SNP A A G TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr2:179635976A>G ENST00000589042.1 - 34 8302 c.8078T>C c.(8077-8079)gTg>gCg p.V2693A TTN_ENST00000359218.5_Missense_Mutation_p.V2647A|TTN_ENST00000460472.2_Missense_Mutation_p.V2647A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V2693A|TTN_ENST00000591111.1_Missense_Mutation_p.V2693A|TTN_ENST00000342992.6_Missense_Mutation_p.V2693A|TTN_ENST00000342175.6_Missense_Mutation_p.V2647A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2429 Ig-like 15. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGAGGTGGCCACCTTGTAGGT 0.388000 21 31 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165703480 165703480 + Missense_Mutation SNP T T C TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr6:165703480T>C ENST00000230301.8 - 7 1217 c.1197A>G c.(1195-1197)atA>atG p.I399M C6orf118_ENST00000543069.1_3'UTR|C6orf118_ENST00000494696.2_5'UTR NM_144980.3 NP_659417.2 Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 399 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) ACTTACTGAGTATTTCACACC 0.318000 25 80 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25967164 25967164 + Missense_Mutation SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr2:25967164G>A ENST00000435504.4 - 13 2335 c.2042C>T c.(2041-2043)gCt>gTt p.A681V ASXL2_ENST00000272341.4_Missense_Mutation_p.A421V|ASXL2_ENST00000404843.1_Missense_Mutation_p.A421V|ASXL2_ENST00000336112.4_Missense_Mutation_p.A653V Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 681 Ala-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCGGCTGCAGCAGCTGCGGC 0.607000 27 57 0 0 1 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102895269 102895269 + RNA SNP G G T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr7:102895269G>T ENST00000312132.4 - 0 2575 CCCATCATTAGTCCATTTAAA 0.328000 11 23 0.00010058 0.000103063 1 1 0 KIAA0100 9703 broad.mit.edu 37 17 26961786 26961786 + Missense_Mutation SNP C C T rs149314530 TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr17:26961786C>T ENST00000528896.2 - 16 2893 c.2819G>A c.(2818-2820)cGc>cAc p.R940H KIAA0100_ENST00000544884.1_Missense_Mutation_p.R797H|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R797H NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 940 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) AATGTTTTTGCGTTCCAAAGA 0.532000 4 110 0 0 1 0 0 CSN1S1 1446 broad.mit.edu 37 4 70810654 70810654 + Silent SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr4:70810654G>A ENST00000246891.4 + 15 538 c.489G>A c.(487-489)ccG>ccA p.P163P CSN1S1_ENST00000505782.1_Silent_p.P147P|CSN1S1_ENST00000507772.1_Silent_p.P155P|CSN1S1_ENST00000444405.3_Silent_p.P154P|CSN1S1_ENST00000507763.1_Silent_p.P154P NM_001890.1 NP_001881.1 P47710 CASA1_HUMAN casein alpha s1 163 extracellular region protein binding|transporter activity lung(5)|prostate(1)|upper_aerodigestive_tract(1) 7 CTTTCCCACCGTTTTCCGACA 0.413000 37 82 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39311307 39311307 + Missense_Mutation SNP C C A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr5:39311307C>A ENST00000263408.4 - 7 1138 c.1043G>T c.(1042-1044)aGc>aTc p.S348I NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 348 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) AGACCCAGAGCTACTGTAGTG 0.383000 15 48 4.93089e-13 5.24697e-13 1 1 0 CD163 9332 broad.mit.edu 37 12 7640064 7640064 + Silent SNP C C T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr12:7640064C>T ENST00000359156.4 - 8 2143 c.1941G>A c.(1939-1941)agG>agA p.R647R CD163_ENST00000396620.3_Silent_p.R680R|CD163_ENST00000541972.1_Silent_p.R635R|CD163_ENST00000432237.2_Silent_p.R647R NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 647 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GAAACATATGCCTCCAGATCT 0.483000 20 46 0 0 1 0 0 ELMOD2 255520 broad.mit.edu 37 4 141458650 141458650 + Silent SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr4:141458650G>A ENST00000323570.3 + 5 486 c.354G>A c.(352-354)agG>agA p.R118R NM_153702.3 NP_714913.1 Q8IZ81 ELMD2_HUMAN ELMO/CED-12 domain containing 2 118 phagocytosis|regulation of defense response to virus|response to virus cytoskeleton GTPase activator activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 7 all_hematologic(180;0.162) TGAGGAAAAGGCCATATGATT 0.328000 3 38 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 5 89 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65188478 65188478 + Missense_Mutation SNP G G T rs139611710 TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr4:65188478G>T ENST00000381210.3 - 4 474 c.364C>A c.(364-366)Caa>Aaa p.Q122K TECRL_ENST00000507440.1_Missense_Mutation_p.Q122K NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 122 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 GCAATACTTTGAATGGTAATG 0.318000 21 48 9.86323e-18 1.06318e-17 1 1 0 MAGEA12 4111 broad.mit.edu 37 X 151900154 151900154 + Missense_Mutation SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chrX:151900154G>A ENST00000393900.3 - 3 1000 c.647C>T c.(646-648)gCc>gTc p.A216V CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.A216V|MAGEA12_ENST00000357916.4_Missense_Mutation_p.A216V NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 216 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CTCCTCAGGGGCACAGTCGCC 0.572000 4 206 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1559173 1559173 + Missense_Mutation SNP T T C TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr20:1559173T>C ENST00000381605.4 - 2 308 c.244A>G c.(244-246)Aaa>Gaa p.K82E SIRPB1_ENST00000262929.5_Missense_Mutation_p.K81E|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.K82E|SIRPB1_ENST00000381603.3_Missense_Mutation_p.K82E NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 82 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 TGGCCTTCTTTCTGATTGTAG 0.522000 28 65 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606455 21606455 + Missense_Mutation SNP A A G TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr19:21606455A>G ENST00000392288.2 + 4 1103 c.994A>G c.(994-996)Att>Gtt p.I332V ZNF493_ENST00000355504.4_Missense_Mutation_p.I204V|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 AGCCTTTAGTATTTTCTCAAC 0.353000 32 57 0 0 1 0 0 M1AP 130951 broad.mit.edu 37 2 74867252 74867252 + Missense_Mutation SNP G G C TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr2:74867252G>C ENST00000290536.5 - 2 267 c.151C>G c.(151-153)Cta>Gta p.L51V M1AP_ENST00000536235.1_Missense_Mutation_p.L51V|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.L51V NM_001281296.1|NM_138804.3 NP_001268225.1|NP_620159.2 meiosis 1 associated protein CTGCAGGCTAGAGAGAAGAAG 0.517000 17 20 0 0 1 0 0 WFDC11 259239 broad.mit.edu 37 20 44277950 44277950 + Missense_Mutation SNP G G C TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr20:44277950G>C ENST00000356562.2 - 4 410 c.189C>G c.(187-189)gaC>gaG p.D63E WFDC11_ENST00000324384.3_Missense_Mutation_p.D63E Q8NEX6 WFD11_HUMAN WAP four-disulfide core domain 11 63 extracellular region endometrium(1)|lung(4) 5 Myeloproliferative disorder(115;0.0122) TGTAATTTTTGTCTTTACATC 0.393000 4 181 0 0 1 0 0 CWC27 10283 broad.mit.edu 37 5 64077826 64077826 + Missense_Mutation SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr5:64077826G>A ENST00000508024.1 + 3 419 c.218G>A c.(217-219)aGt>aAt p.S73N CWC27_ENST00000381070.3_Missense_Mutation_p.S73N Q6UX04 CWC27_HUMAN CWC27 spliceosome-associated protein homolog (S. cerevisiae) 73 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1) 21 GGCACAGGGAGTGGTGGAGAG 0.328000 11 22 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27877008 27877008 + Missense_Mutation SNP G G T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr1:27877008G>T ENST00000374011.2 - 6 2587 c.1619C>A c.(1618-1620)cCc>cAc p.P540H AHDC1_ENST00000247087.5_Missense_Mutation_p.P540H NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 540 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GAGAATAATGGGCATCTCACC 0.637000 4 31 1 1 1 1 0 ELAC1 55520 broad.mit.edu 37 18 48510473 48510473 + Missense_Mutation SNP T T G TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr18:48510473T>G ENST00000269466.3 + 3 272 c.165T>G c.(163-165)atT>atG p.I55M SMAD4_ENST00000452201.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron|ELAC1_ENST00000588577.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000591429.1_Missense_Mutation_p.I55M NM_018696.2 NP_061166.1 Q9H777 RNZ1_HUMAN elaC ribonuclease Z 1 55 tRNA 3'-trailer cleavage nucleus endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding kidney(1)|large_intestine(4)|prostate(1) 6 Colorectal(6;0.0269)|all_epithelial(6;0.0729) Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18) AAGGGAGAATTACCAAGATCT 0.398000 15 28 0 0 1 0 0 HCAR2 338442 broad.mit.edu 37 12 123187180 123187180 + Missense_Mutation SNP C C G TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr12:123187180C>G ENST00000328880.5 - 1 710 c.651G>C c.(649-651)caG>caC p.Q217H HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 217 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) CCATTTGTCTCTGCCGCAGGC 0.547000 19 25 0 0 1 0 0 DAPK2 23604 broad.mit.edu 37 15 64275784 64275784 + Missense_Mutation SNP T T C TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr15:64275784T>C ENST00000261891.3 - 2 267 c.262A>G c.(262-264)Acg>Gcg p.T88A DAPK2_ENST00000457488.1_Missense_Mutation_p.T88A|DAPK2_ENST00000558069.1_Missense_Mutation_p.T88A|DAPK2_ENST00000558482.1_5'UTR Q9UIK4 DAPK2_HUMAN death-associated protein kinase 2 88 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) TCGTGCAGCGTGATGACATTG 0.667000 13 29 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102482329 102482329 + Missense_Mutation SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr5:102482329G>A ENST00000321521.9 + 6 1159 c.586G>A c.(586-588)Gtt>Att p.V196I PPIP5K2_ENST00000414217.1_Missense_Mutation_p.V196I|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.V196I O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 196 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AGATCACAATGTTTACATTTA 0.358000 29 56 0 0 1 0 0 CCDC115 84317 broad.mit.edu 37 2 131098520 131098520 + Missense_Mutation SNP G G T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr2:131098520G>T ENST00000259229.2 - 4 614 c.391C>A c.(391-393)Cct>Act p.P131T CCDC115_ENST00000409127.1_Missense_Mutation_p.P126T|CCDC115_ENST00000437688.2_Missense_Mutation_p.P126T NM_032357.2 NP_115733.2 Q96NT0 CC115_HUMAN coiled-coil domain containing 115 131 endosome|lysosome central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 7 Colorectal(110;0.1) AGACTGTGAGGAACTAGGATT 0.587000 3 32 0.004672 0.00472898 1 1 0 HEPH 9843 broad.mit.edu 37 X 65474950 65474950 + Silent SNP C C T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chrX:65474950C>T ENST00000519389.1 + 16 2978 c.2799C>T c.(2797-2799)tcC>tcT p.S933S HEPH_ENST00000419594.1_Silent_p.S690S|HEPH_ENST00000441993.2_Silent_p.S882S|HEPH_ENST00000374727.3_Silent_p.S882S|HEPH_ENST00000343002.2_Silent_p.S879S|HEPH_ENST00000336279.5_Silent_p.S612S Q9BQS7 HEPH_HUMAN hephaestin 879 Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CTTGTGTTTCCTGGATCTATT 0.483000 11 31 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98529037 98529037 + Missense_Mutation SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr7:98529037G>A ENST00000359863.4 + 26 3810 c.3601G>A c.(3601-3603)Ggg>Agg p.G1201R TRRAP_ENST00000355540.3_Missense_Mutation_p.G1201R|TRRAP_ENST00000446306.3_Missense_Mutation_p.G1200R NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1201 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGTTTCCAATGGGGCAGTCGC 0.562000 10 16 0 0 1 0 0 ECI2 10455 broad.mit.edu 37 6 4126385 4126385 + Missense_Mutation SNP T T G TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr6:4126385T>G ENST00000465828.1 - 6 853 c.568A>C c.(568-570)Aat>Cat p.N190H C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380118.3_Missense_Mutation_p.N220H|ECI2_ENST00000380125.2_Missense_Mutation_p.N190H|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000413766.2_Missense_Mutation_p.N53H|ECI2_ENST00000361538.2_Missense_Mutation_p.N190H O75521 ECI2_HUMAN enoyl-CoA delta isomerase 2 220 ECH-like. fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 11 AAAACGGCATTATTTTTAGCT 0.398000 20 31 0 0 1 0 0 PI16 221476 broad.mit.edu 37 6 36931309 36931309 + Silent SNP C C T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr6:36931309C>T ENST00000373674.3 + 5 1519 c.1191C>T c.(1189-1191)tcC>tcT p.S397S PI16_ENST00000491324.1_Intron NM_001199159.1|NM_153370.2 NP_001186088.1|NP_699201.2 Q6UXB8 PI16_HUMAN peptidase inhibitor 16 397 extracellular region|integral to membrane peptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CCTCCAAGTCCCTGCCCAATT 0.612000 17 27 0 0 1 0 0 MORF4L1 10933 broad.mit.edu 37 15 79172899 79172899 + Missense_Mutation SNP C C G TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr15:79172899C>G ENST00000331268.5 + 3 337 c.133C>G c.(133-135)Cat>Gat p.H45D MORF4L1_ENST00000426013.2_Missense_Mutation_p.H45D|MORF4L1_ENST00000379535.4_Missense_Mutation_p.H70D|MORF4L1_ENST00000558502.1_Intron|MORF4L1_ENST00000558746.1_Missense_Mutation_p.H45D|MORF4L1_ENST00000559345.1_5'UTR|MORF4L1_ENST00000561171.1_3'UTR NM_206839.2 NP_996670.1 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 45 Interaction with MYST1. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 ATACTTCATACATTACAGTGG 0.299000 15 30 0 0 1 0 0 DDX52 11056 broad.mit.edu 37 17 35986098 35986098 + Missense_Mutation SNP C C T TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr17:35986098C>T ENST00000349699.2 - 8 1022 c.979G>A c.(979-981)Ggc>Agc p.G327S DDX52_ENST00000394367.3_Missense_Mutation_p.G219S NM_007010.3 NP_008941.2 Q9Y2R4 DDX52_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 327 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) CCAGTTTTGCCATCTTCAAAC 0.423000 12 39 0 0 1 0 0 C9orf96 169436 broad.mit.edu 37 9 136260780 136260780 + Silent SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr9:136260780G>A ENST00000371957.3 + 9 863 c.756G>A c.(754-756)ctG>ctA p.L252L C9orf96_ENST00000371955.1_5'UTR NM_153710.3 NP_714921.4 Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 252 Protein kinase. ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CAGGCAGCCTGAAGGCCGTCC 0.552000 16 28 0 0 1 0 0 ZBTB17 7709 broad.mit.edu 37 1 16272308 16272308 + Missense_Mutation SNP G G A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr1:16272308G>A ENST00000375733.2 - 6 801 c.563C>T c.(562-564)gCg>gTg p.A188V ZBTB17_ENST00000537142.1_Missense_Mutation_p.A106V|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A125V|ZBTB17_ENST00000375743.4_Missense_Mutation_p.A188V Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 188 negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2) 15 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) CTCCCGGGGCGCATCGGCTTT 0.662000 3 34 0 0 1 0 0 AUNIP 79000 broad.mit.edu 37 1 26163989 26163992 + Frame_Shift_Del DEL CTTT CTTT - TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr1:26163989_26163992delCTTT ENST00000374298.3 - 2 186_189 c.132_135delAAAG c.(130-135)agaaagfs p.RK44fs AUNIP_ENST00000481602.1_5'UTR|AUNIP_ENST00000538789.1_Frame_Shift_Del_p.RK44fs NM_024037.1 NP_076942.1 aurora kinase A and ninein interacting protein AAATATTAGCCTTTCTTTCTCCAG 0.387 40 22 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27057807 27057810 + Frame_Shift_Del DEL GTCT GTCT - TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr1:27057807_27057810delGTCT ENST00000324856.7 + 3 1886_1889 c.1515_1518delGTCT c.(1513-1518)cagtctfs p.QS505fs ARID1A_ENST00000374152.2_Frame_Shift_Del_p.QS122fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.QS505fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 505 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGCAGCCACAGTCTCAACCACCAC 0.618 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 107 44 --- --- --- --- ELF3 1999 broad.mit.edu 37 1 201982339 201982339 + Frame_Shift_Del DEL C C - TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr1:201982339delC ENST00000359651.3 + 6 3910 c.718delC c.(718-720)cccfs p.P240fs ELF3_ENST00000367284.5_Frame_Shift_Del_p.P240fs|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Del_p.P240fs P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 240 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 GAAGGGGGATCCCAAGCACGG 0.602 13 37 --- --- --- --- PRRT3 285368 broad.mit.edu 37 3 9991858 9991859 + Splice_Site INS - - A TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr3:9991858_9991859insA ENST00000412055.1 - 2 73 c.e2-2 PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Splice_Site NM_207351.3 NP_997234.3 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 TGGATGAGCCTAAAAAAAAAAC 0.574 2 4 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187539279 187539300 + Frame_Shift_Del DEL TTTCAACAATGAATGCCTCATA TTTCAACAATGAATGCCTCATA - TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr4:187539279_187539300delTTTCAACAATGAATGCCTCATA ENST00000441802.2 - 10 8649_8670 c.8440_8461delTATGAGGCATTCATTGTTGAAA c.(8440-8463)tatgaggcattcattgttgaaaacfs p.YEAFIVEN2814fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2814 Cadherin 26. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CCTGGCAGGTTTTCAACAATGAATGCCTCATATGGACTAGAT 0.455 HNSCC(5;0.00058) 12 84 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157528434 157528434 + Frame_Shift_Del DEL G G - TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr6:157528434delG ENST00000346085.5 + 20 6160 c.6159delG c.(6157-6159)ctgfs p.L2053fs ARID1B_ENST00000275248.4_Frame_Shift_Del_p.L2035fs|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.L2093fs|ARID1B_ENST00000350026.5_Frame_Shift_Del_p.L2040fs NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 2040 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) ATGGCTTGCTGCACTGGATGG 0.547 51 61 --- --- --- --- ABL1 25 broad.mit.edu 37 9 133759490 133759492 + In_Frame_Del DEL AAG AAG - TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr9:133759490_133759492delAAG ENST00000318560.5 + 11 2194_2196 c.1813_1815delAAG c.(1813-1815)aagdel p.K609del NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 609 Poly-Lys. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CGCCTTGATCAAGAAGAAGAAGA 0.616 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 7 98 --- --- --- --- ZFP36L1 677 broad.mit.edu 37 14 69256668 69256669 + Frame_Shift_Ins INS - - GC TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr14:69256668_69256669insGC ENST00000439696.2 - 2 899_900 c.598_599insGC c.(598-600)catfs p.H200fs ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.H200fs|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 200 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GCTAAAGCTATGCTGGAGGCGG 0.688 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 29 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)ctafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 7 32 --- --- --- --- RAVER1 125950 broad.mit.edu 37 19 10431432 10431434 + In_Frame_Del DEL TGC TGC - TCGA-ZF-AA5N-01A-11D-A42E-08 TCGA-ZF-AA5N-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d5193dc-1d1d-4119-a181-544c7fc4bbc8 7dc7520f-3483-4949-980c-ecd0549dfc81 g.chr19:10431432_10431434delTGC ENST00000293677.6 - 9 1799_1801 c.1718_1720delGCA c.(1717-1722)agcaaa>aaa p.S573del NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 433 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) TGGAAGGCTTTGCTGCTGCTGCT 0.704 4 9 --- --- --- ---