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 AKAP6 9472 broad.mit.edu 37 14 33291281 33291281 + Missense_Mutation SNP A A T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr14:33291281A>T ENST00000280979.4 + 13 4432 c.4262A>T c.(4261-4263)aAg>aTg p.K1421M AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1421 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GAAAGCATTAAGCTTCCAAAT 0.418000 12 49 0 0 0.105934 0 0 CCDC87 55231 broad.mit.edu 37 11 66358974 66358974 + Missense_Mutation SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr11:66358974C>T ENST00000333861.3 - 1 1580 c.1513G>A c.(1513-1515)Gac>Aac p.D505N NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 505 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 TGTAAGTGGTCAGAAGAGACA 0.458000 10 145 0 0 0.069234 0 0 NPHP3 27031 broad.mit.edu 37 3 132434047 132434047 + Missense_Mutation SNP G G A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr3:132434047G>A ENST00000326682.8 - 5 915 c.839C>T c.(838-840)gCt>gTt p.A280V NPHP3_ENST00000337331.5_Missense_Mutation_p.A280V|NPHP3_ENST00000476742.1_5'UTR Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 280 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACTAGCTACAGCAATATCCCA 0.333000 5 65 0 0 0.184627 0 0 PCDH10 57575 broad.mit.edu 37 4 134084247 134084247 + Missense_Mutation SNP C C A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr4:134084247C>A ENST00000264360.4 + 4 3739 c.2913C>A c.(2911-2913)agC>agA p.S971R NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 971 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTATCGCAGCAATCTGCATG 0.537000 25 73 0.000375601 0.000384837 0.076483 1 0 CLEC16A 23274 broad.mit.edu 37 16 11272339 11272339 + Missense_Mutation SNP C C G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr16:11272339C>G ENST00000409790.1 + 24 3184 c.2954C>G c.(2953-2955)cCt>cGt p.P985R CLEC16A_ENST00000381822.2_Missense_Mutation_p.P72R NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 985 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AGCCTCGTCCCTGCCCGGCAG 0.637000 8 117 0 0 0.047766 0 0 ZNF677 342926 broad.mit.edu 37 19 53741643 53741643 + Missense_Mutation SNP C C G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr19:53741643C>G ENST00000333952.4 - 5 502 c.337G>C c.(337-339)Gat>Cat p.D113H ZNF677_ENST00000598513.1_Missense_Mutation_p.D113H Q86XU0 ZN677_HUMAN zinc finger protein 677 113 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TTTTTTACATCATAGTCCCAC 0.348000 4 103 0 0 0.184627 0 0 GPR125 166647 broad.mit.edu 37 4 22394281 22394281 + Silent SNP G G A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr4:22394281G>A ENST00000334304.5 - 17 2783 c.2514C>T c.(2512-2514)gcC>gcT p.A838A GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 838 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) ATAGTACTGTGGCAAGGGTGG 0.388000 4 81 0 0 0.184627 0 0 GPR34 2857 broad.mit.edu 37 X 41555242 41555242 + Missense_Mutation SNP A A G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chrX:41555242A>G ENST00000378142.4 + 3 640 c.356A>G c.(355-357)aAg>aGg p.K119R CASK_ENST00000378158.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378154.1_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.K119R|CASK_ENST00000318588.9_Intron NM_001097579.1|NM_005300.3 NP_001091048.1|NP_005291.1 Q9UPC5 GPR34_HUMAN G protein-coupled receptor 34 119 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 14 AACCAAAACAAGTGGACACTA 0.378000 17 358 0 0 0.234183 0 0 AMER1 139285 broad.mit.edu 37 X 63412533 63412533 + Missense_Mutation SNP G G A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chrX:63412533G>A ENST00000330258.3 - 2 906 c.634C>T c.(634-636)Cct>Tct p.P212S AMER1_ENST00000403336.1_Missense_Mutation_p.P212S|AMER1_ENST00000374869.3_Missense_Mutation_p.P212S NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) GGCACCTGAGGGGCTGAGCTC 0.592000 6 113 0 0 0.217242 0 0 TTC3 7267 broad.mit.edu 37 21 38533142 38533142 + Missense_Mutation SNP G G T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr21:38533142G>T ENST00000399017.2 + 30 5825 c.3078G>T c.(3076-3078)aaG>aaT p.K1026N TTC3_ENST00000354749.2_Missense_Mutation_p.K1026N|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.K1026N NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1026 Arg/Lys-rich (basic).|Poly-Lys. protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) GCAAGAAAAAGAAGCCAAAGG 0.318000 7 47 1.06961e-07 1.17282e-07 0.038147 1 0 MEGF6 1953 broad.mit.edu 37 1 3428235 3428235 + Silent SNP G G A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr1:3428235G>A ENST00000356575.4 - 9 1219 c.993C>T c.(991-993)atC>atT p.I331I MEGF6_ENST00000294599.4_Silent_p.I226I NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 331 extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) AGCTGTTCACGATTTCCATCT 0.627000 6 60 0 0 0.038147 0 0 GPR64 10149 broad.mit.edu 37 X 19051731 19051731 + Splice_Site SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chrX:19051731C>T ENST00000379878.3 - 7 497 c.256_splice c.e7+1 p.G86_splice GPR64_ENST00000357544.3_Intron|GPR64_ENST00000340581.3_Intron|GPR64_ENST00000379873.2_Splice_Site_p.G102_splice|GPR64_ENST00000357991.3_Splice_Site_p.G99_splice|GPR64_ENST00000379876.1_Splice_Site_p.G78_splice|GPR64_ENST00000356606.4_Intron|GPR64_ENST00000354791.3_Splice_Site_p.G86_splice|GPR64_ENST00000379869.3_Splice_Site_p.G102_splice|GPR64_ENST00000360279.4_Intron NM_001184833.1 NP_001171762.1 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 102 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) TAAGTCATACCTGATGCATTG 0.239000 15 45 0 0 0.160694 0 0 AP4B1 10717 broad.mit.edu 37 1 114447405 114447405 + Translation_Start_Site SNP G G C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr1:114447405G>C ENST00000369569.1 - 0 215 AP4B1_ENST00000256658.4_De_novo_Start_OutOfFrame|AP4B1_ENST00000369567.1_De_novo_Start_OutOfFrame|AP4B1_ENST00000369566.3_De_novo_Start_OutOfFrame NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCTCGTCCTGATGTGGGAGC 0.577000 7 47 0 0 0.029380 0 0 TP53 7157 broad.mit.edu 37 17 7578392 7578392 + Missense_Mutation SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr17:7578392C>T ENST00000420246.2 - 5 670 c.538G>A c.(538-540)Gag>Aag p.E180K TP53_ENST00000269305.4_Missense_Mutation_p.E180K|TP53_ENST00000359597.4_Missense_Mutation_p.E180K|TP53_ENST00000413465.2_Missense_Mutation_p.E180K|TP53_ENST00000455263.2_Missense_Mutation_p.E180K|TP53_ENST00000445888.2_Missense_Mutation_p.E180K|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 180 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in a sporadic cancer; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; 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.E180*(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.E180K(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E180Q(1)|p.R81fs*24(1)|p.E180>DGRCPHQ(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E180fs*6(1)|p.E171fs*61(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) GAGCAGCGCTCATGGTGGGGG 0.637000 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) 21 23 0 0 0.234183 0 0 F8 2157 broad.mit.edu 37 X 154133104 154133104 + Nonsense_Mutation SNP A A C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chrX:154133104A>C ENST00000360256.4 - 16 5768 c.5568T>G c.(5566-5568)taT>taG p.Y1856* NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1856 F5/8 type A 3.|Plastocyanin-like 5. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CATCAGAGAAATAAGCCCAGG 0.368000 13 123 0 0 0.105934 0 0 PCDHA12 56137 broad.mit.edu 37 5 140257099 140257099 + Missense_Mutation SNP G G A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr5:140257099G>A ENST00000398631.2 + 1 2042 c.2042G>A c.(2041-2043)cGg>cAg p.R681Q PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGTCGTCGCGGGCCTCAGTG 0.652000 3 47 0 0 0.150653 0 0 UFD1L 7353 broad.mit.edu 37 22 19455447 19455447 + Missense_Mutation SNP T T C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr22:19455447T>C ENST00000263202.9 - 5 500 c.371A>G c.(370-372)aAa>aGa p.K124R UFD1L_ENST00000399523.1_Missense_Mutation_p.K124R|UFD1L_ENST00000360834.4_Missense_Mutation_p.K113R|UFD1L_ENST00000484101.1_5'UTR NM_001035247.2|NM_005659.6 NP_001030324.2|NP_005650.2 Q92890 UFD1_HUMAN ubiquitin fusion degradation 1 like (yeast) 124 skeletal system development|ubiquitin-dependent protein catabolic process cytosol|nucleus protein binding|ubiquitin-specific protease activity large_intestine(3)|upper_aerodigestive_tract(1) 4 Colorectal(54;0.0993) AGGTTGGAATTTGGAGTAGGT 0.498000 8 110 0 0 0.058154 0 0 NEFH 4744 broad.mit.edu 37 22 29879474 29879474 + Missense_Mutation SNP C C G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr22:29879474C>G ENST00000310624.6 + 2 1027 c.994C>G c.(994-996)Ctg>Gtg p.L332V NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 332 Coil 2B.|Rod. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 GACCACAGAGCTGGAGGCACT 0.622000 21 71 0 0 0.219247 0 0 TGFBR1 7046 broad.mit.edu 37 9 101900299 101900299 + Missense_Mutation SNP G G A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr9:101900299G>A ENST00000374994.4 + 4 850 c.733G>A c.(733-735)Gag>Aag p.E245K TGFBR1_ENST00000552516.1_Missense_Mutation_p.E249K|TGFBR1_ENST00000374990.2_Missense_Mutation_p.E168K|TGFBR1_ENST00000550253.1_Missense_Mutation_p.E176K NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 245 Protein kinase. activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) GTGGTTCCGTGAGGCAGAGAT 0.413000 13 58 0 0 0.093190 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179292299 179292299 + Silent SNP T T C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr5:179292299T>C ENST00000356834.3 - 21 3064 c.3027A>G c.(3025-3027)aaA>aaG p.K1009K TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Silent_p.K992K|TBC1D9B_ENST00000444477.2_Silent_p.K150K|TBC1D9B_ENST00000519746.1_Silent_p.K168K NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 1009 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTGAGCCTCTTTCTCCTTGG 0.507000 14 92 0 0 0.105934 0 0 PIGT 51604 broad.mit.edu 37 20 44052918 44052918 + Nonsense_Mutation SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr20:44052918C>T ENST00000279036.6 + 10 1377 c.1297C>T c.(1297-1299)Cag>Tag p.Q433* PIGT_ENST00000341555.5_Nonsense_Mutation_p.Q239*|PIGT_ENST00000535404.1_Nonsense_Mutation_p.Q278*|PIGT_ENST00000543458.2_Nonsense_Mutation_p.Q377*|PIGT_ENST00000545755.1_Nonsense_Mutation_p.Q171*|PIGT_ENST00000279035.9_Nonsense_Mutation_p.Q331*|PIGT_ENST00000372689.5_Nonsense_Mutation_p.Q366* NM_015937.5 NP_057021.2 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, class T 433 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1) 22 Myeloproliferative disorder(115;0.0122) GATGCTGATTCAGCTGCCGGC 0.572000 5 70 0 0 0.184627 0 0 CD1E 913 broad.mit.edu 37 1 158324373 158324373 + Nonsense_Mutation SNP G G T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr1:158324373G>T ENST00000368160.3 + 2 265 c.265G>T c.(265-267)Gag>Tag p.E89* CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368167.3_Nonsense_Mutation_p.E89*|CD1E_ENST00000434258.1_Nonsense_Mutation_p.E87*|CD1E_ENST00000368163.3_Nonsense_Mutation_p.E89*|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368156.1_Nonsense_Mutation_p.E89*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.E89*|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368155.3_Nonsense_Mutation_p.E89*|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_Nonsense_Mutation_p.E89* NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 89 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CAGCAAGCAGGAGCTGAAAAA 0.483000 5 37 1.024e-07 1.13274e-07 0.184627 1 0 BCORL1 63035 broad.mit.edu 37 X 129159037 129159037 + Missense_Mutation SNP A A G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chrX:129159037A>G ENST00000540052.1 + 6 3805 c.3761A>G c.(3760-3762)gAa>gGa p.E1254G BCORL1_ENST00000303743.5_Missense_Mutation_p.E1254G|BCORL1_ENST00000218147.7_Missense_Mutation_p.E1254G|BCORL1_ENST00000359304.2_Intron NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1254 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CCCACAGAAGAAGAAGAGGAG 0.557000 20 241 0 0 0.189662 0 0 SHROOM4 57477 broad.mit.edu 37 X 50376205 50376205 + Silent SNP A A C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chrX:50376205A>C ENST00000376020.2 - 4 2893 c.2868T>G c.(2866-2868)acT>acG p.T956T SHROOM4_ENST00000289292.7_Silent_p.T956T|SHROOM4_ENST00000460112.3_Silent_p.T840T NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 956 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) TGGGTTTCCAAGTGTTGCCAG 0.498000 21 26 0 0 0.076483 0 0 PPFIA2 8499 broad.mit.edu 37 12 81741325 81741325 + Missense_Mutation SNP C C G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr12:81741325C>G ENST00000550584.2 - 17 2514 c.2219G>C c.(2218-2220)gGa>gCa p.G740A PPFIA2_ENST00000552948.1_Missense_Mutation_p.G740A|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G740A|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G722A|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G307A|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G666A|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G641A|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G722A|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G587A|PPFIA2_ENST00000549396.1_Missense_Mutation_p.G740A NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 666 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TGTCATGACTCCCATCCGATC 0.488000 9 103 0 0 0.058154 0 0 MAGEH1 28986 broad.mit.edu 37 X 55479158 55479158 + Missense_Mutation SNP G G C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chrX:55479158G>C ENST00000342972.1 + 1 621 c.351G>C c.(349-351)aaG>aaC p.K117N NM_014061.3 NP_054780.2 Q9H213 MAGH1_HUMAN melanoma antigen family H, 1 117 MAGE. apoptosis central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2) 15 TGCTGGGGAAGTTAGGAATGC 0.498000 4 102 0 0 0.150653 0 0 SEC14L5 9717 broad.mit.edu 37 16 5057380 5057380 + Missense_Mutation SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr16:5057380C>T ENST00000251170.7 + 13 1645 c.1465C>T c.(1465-1467)Ccc>Tcc p.P489S NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 489 integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 AGGGCTGGTCCCCAAGTCCCT 0.617000 3 32 0 0 0.115264 0 0 FANCD2 2177 broad.mit.edu 37 3 10103867 10103867 + Missense_Mutation SNP C C G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr3:10103867C>G ENST00000287647.3 + 20 1892 c.1799C>G c.(1798-1800)gCc>gGc p.A600G FANCD2_ENST00000383807.1_Missense_Mutation_p.A600G|FANCD2_ENST00000383806.1_Missense_Mutation_p.A600G|FANCD2_ENST00000419585.1_Missense_Mutation_p.A600G NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 600 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) CAAGAGAGAGCCAACCTGAGC 0.353000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 8 21 0 0 0.069234 0 0 RALY 22913 broad.mit.edu 37 20 32659995 32659995 + Missense_Mutation SNP G G A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr20:32659995G>A ENST00000375114.3 + 3 693 c.115G>A c.(115-117)Gag>Aag p.E39K RALY_ENST00000493399.1_3'UTR|RALY_ENST00000246194.3_Missense_Mutation_p.E39K NM_007367.3 NP_031393.2 Q9UKM9 RALY_HUMAN RALY heterogeneous nuclear ribonucleoprotein 39 RRM. catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 ATCAGATGTGGAGACCATCTT 0.507000 6 70 0 0 0.217242 0 0 EYA1 2138 broad.mit.edu 37 8 72267066 72267066 + Silent SNP G G A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr8:72267066G>A ENST00000340726.3 - 3 714 c.75C>T c.(73-75)ctC>ctT p.L25L EYA1_ENST00000388740.3_Intron|EYA1_ENST00000419131.1_Silent_p.L25L|EYA1_ENST00000303824.7_Silent_p.L25L|EYA1_ENST00000388743.2_Silent_p.L25L|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000388742.4_Silent_p.L25L NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 25 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GAGAGTTACCGAGTTTGGGGC 0.463000 28 134 0 0 0.108266 0 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T T G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr12:113515335T>G ENST00000257600.3 + 2 869 c.366T>G c.(364-366)gaT>gaG p.D122E NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGGCCTACGATATGGACATCT 0.622000 3 47 0 0 0.115264 0 0 AGXT 189 broad.mit.edu 37 2 241815373 241815373 + Silent SNP C C G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr2:241815373C>G ENST00000307503.3 + 8 1185 c.798C>G c.(796-798)gtC>gtG p.V266V NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 266 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CAATCCCCGTCATCAGCCTGT 0.617000 7 30 0 0 0.058154 0 0 KRT14 3861 broad.mit.edu 37 17 39742987 39742987 + Missense_Mutation SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr17:39742987C>T ENST00000167586.6 - 1 186 c.100G>A c.(100-102)Gtc>Atc p.V34I NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 34 Head. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) CCGGCCAGGACGGAGGAGATG 0.726000 4 5 0 0 0.184627 0 0 ATM 472 broad.mit.edu 37 11 108139190 108139190 + Missense_Mutation SNP T T G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr11:108139190T>G ENST00000278616.4 + 18 3077 c.2692T>G c.(2692-2694)Tta>Gta p.L898V ATM_ENST00000452508.2_Missense_Mutation_p.L898V NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 898 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TCTACTTTTCTTAGACATGCT 0.373000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 18 114 0 0 0.189662 0 0 HPS3 84343 broad.mit.edu 37 3 148858052 148858052 + Missense_Mutation SNP G G C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr3:148858052G>C ENST00000296051.2 + 2 619 c.479G>C c.(478-480)aGt>aCt p.S160T HPS3_ENST00000460120.1_Intron NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 160 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GTCTTATTTAGTTTGAAGTAC 0.378000 Hermansky-Pudlak syndrome 42 47 0 0 0.124865 0 0 SIN3A 25942 broad.mit.edu 37 15 75714964 75714964 + Nonsense_Mutation SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr15:75714964C>T ENST00000567289.1 - 3 664 c.390G>A c.(388-390)tgG>tgA p.W130* SIN3A_ENST00000394949.4_Intron|SIN3A_ENST00000394947.3_Intron|SIN3A_ENST00000360439.4_Intron Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 517 Interaction with HCFC1.|PAH 1. blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 ATTTTTTGACCCAAGAAAAAG 0.458000 8 52 0 0 0.038147 0 0 SP1 6667 broad.mit.edu 37 12 53776134 53776134 + Missense_Mutation SNP G G C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr12:53776134G>C ENST00000426431.2 + 3 442 c.382G>C c.(382-384)Gag>Cag p.E128Q SP1_ENST00000327443.4_Missense_Mutation_p.E135Q NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 135 Ser/Thr-rich. positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) CAATGGCAGTGAGTCTTCCAA 0.542000 3 50 0 0 0.115264 0 0 DSCR9 257203 broad.mit.edu 37 21 38593804 38593804 + RNA SNP G G T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr21:38593804G>T ENST00000454482.2 + 0 1411 AP001432.14_ENST00000440629.1_lincRNA NR_026719.2 CCCAGTTTTTGAAGAAGGTGA 0.527000 9 169 3.86212e-05 4.02304e-05 0.069234 1 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 3 37 0 0 0.217242 0 0 ADGRG6 57211 broad.mit.edu 37 6 142732479 142732479 + Silent SNP A A T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr6:142732479A>T ENST00000230173.6 + 18 2948 c.2472A>T c.(2470-2472)gcA>gcT p.A824A GPR126_ENST00000367608.2_Silent_p.A796A|GPR126_ENST00000367609.3_Silent_p.A824A|GPR126_ENST00000296932.8_Silent_p.A796A NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 824 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) GATGTGTTGCACACAGAGATT 0.428000 19 126 0 0 0.219247 0 0 TTN 7273 broad.mit.edu 37 2 179611703 179611703 + Missense_Mutation SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr2:179611703C>T ENST00000360870.5 - 46 15646 c.15424G>A c.(15424-15426)Ggt>Agt p.G5142S TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1043 Ig-like 32. 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) TTTGGTGTACCGTCTTCCCTT 0.438000 10 119 0 0 0.058154 0 0 CES3 23491 broad.mit.edu 37 16 66998528 66998528 + Silent SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr16:66998528C>T ENST00000303334.4 + 6 788 c.717C>T c.(715-717)gtC>gtT p.V239V CES3_ENST00000394037.1_Silent_p.V239V NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 239 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) GCACCCAGGTCCTGTCCCCAG 0.632000 13 75 0 0 0.132662 0 0 TRAV10 28676 broad.mit.edu 37 14 22294191 22294191 + RNA SNP A A C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr14:22294191A>C ENST00000390432.2 + 0 331 TCTGCACATCACAGCCTCCCA 0.507000 13 65 0 0 0.105934 0 0 PIK3CD 5293 broad.mit.edu 37 1 9783217 9783217 + Missense_Mutation SNP C C T rs140820694 TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr1:9783217C>T ENST00000536656.1 + 20 2741 c.2533C>T c.(2533-2535)Cgc>Tgc p.R845C PIK3CD_ENST00000361110.2_Missense_Mutation_p.R845C|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R821C O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 821 PI3K/PI4K. phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) CACCGGGGACCGCACAGGCCT 0.602000 10 239 0 0 0.069234 0 0 CLDN22 53842 broad.mit.edu 37 4 184241270 184241270 + Missense_Mutation SNP C C G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr4:184241270C>G ENST00000323319.5 - 1 657 c.102G>C c.(100-102)aaG>aaC p.K34N WWC2_ENST00000403733.3_3'UTR NM_001111319.1 NP_001104789.1 Q8N7P3 CLD22_HUMAN claudin 22 34 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1) 7 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176) all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) GGTTGAGGTTCTTCCAGTGTG 0.443000 7 122 0 0 0.029380 0 0 RALY 22913 broad.mit.edu 37 20 32659989 32659989 + Missense_Mutation SNP G G C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr20:32659989G>C ENST00000375114.3 + 3 687 c.109G>C c.(109-111)Gat>Cat p.D37H RALY_ENST00000493399.1_3'UTR|RALY_ENST00000246194.3_Missense_Mutation_p.D37H NM_007367.3 NP_031393.2 Q9UKM9 RALY_HUMAN RALY heterogeneous nuclear ribonucleoprotein 37 RRM. catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 GAAGAAATCAGATGTGGAGAC 0.507000 5 74 0 0 0.184627 0 0 EIF2S2 8894 broad.mit.edu 37 20 32684606 32684606 + Silent SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr20:32684606C>T ENST00000374980.2 - 6 761 c.540G>A c.(538-540)ctG>ctA p.L180L NM_003908.3 NP_003899.2 P20042 IF2B_HUMAN eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa 180 cytosol|eukaryotic translation initiation factor 2 complex metal ion binding|protein binding|translation initiation factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 11 ACACTCGATTCAGCAGCTATA 0.403000 7 183 0 0 0.069234 0 0 RBBP6 5930 broad.mit.edu 37 16 24580583 24580583 + Missense_Mutation SNP G G A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr16:24580583G>A ENST00000319715.4 + 17 3004 c.2572G>A c.(2572-2574)Gag>Aag p.E858K RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.E824K NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 858 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) AGCAAATAGAGAGAACTTTTC 0.428000 11 97 0 0 0.119110 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554445 85554445 + Missense_Mutation SNP G G A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr2:85554445G>A ENST00000377386.3 - 2 872 c.410C>T c.(409-411)aCt>aTt p.T137I TGOLN2_ENST00000398263.2_Missense_Mutation_p.T137I|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.T137I|TGOLN2_ENST00000409015.1_Missense_Mutation_p.T137I|TGOLN2_ENST00000444342.2_Missense_Mutation_p.T137I O43493 TGON2_HUMAN trans-golgi network protein 2 137 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding CGATTTGCCAGTGCTGTCTTT 0.577000 17 575 0 0 0.146539 0 0 FPR1 2357 broad.mit.edu 37 19 52249869 52249869 + Missense_Mutation SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr19:52249869C>T ENST00000595042.1 - 3 520 c.379G>A c.(379-381)Gtc>Atc p.V127I FPR1_ENST00000304748.4_Missense_Mutation_p.V127I NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 127 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity p.V127I(1) endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GGATGCAGGACGCAAACACAG 0.557000 19 58 0 0 0.175082 0 0 NCAPG2 54892 broad.mit.edu 37 7 158447365 158447365 + Missense_Mutation SNP C C G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr7:158447365C>G ENST00000409339.3 - 22 2781 c.2668G>C c.(2668-2670)Gat>Cat p.D890H NCAPG2_ENST00000449727.2_Missense_Mutation_p.D890H|NCAPG2_ENST00000275830.10_Missense_Mutation_p.D682H|NCAPG2_ENST00000541468.1_Missense_Mutation_p.D391H|NCAPG2_ENST00000356309.3_Missense_Mutation_p.D890H|NCAPG2_ENST00000409423.1_Missense_Mutation_p.D890H Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 890 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) ATAACAACATCTTTACACACA 0.438000 18 104 0 0 0.175082 0 0 ABCA5 23461 broad.mit.edu 37 17 67280103 67280103 + Missense_Mutation SNP C C A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr17:67280103C>A ENST00000392676.3 - 18 2447 c.2383G>T c.(2383-2385)Gac>Tac p.D795Y ABCA5_ENST00000588877.1_Missense_Mutation_p.D795Y|ABCA5_ENST00000392677.2_Missense_Mutation_p.D795Y Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 795 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CCTGCTTGGTCAATTTCTGCT 0.313000 10 37 2.17888e-05 2.32786e-05 0.058154 1 0 PRAMEF12 390999 broad.mit.edu 37 1 12835688 12835688 + Missense_Mutation SNP G G A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr1:12835688G>A ENST00000357726.4 + 2 317 c.290G>A c.(289-291)cGg>cAg p.R97Q NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 97 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACCCACAGGCGGTGGAAACTT 0.517000 15 295 0 0 0.146539 0 0 F13A1 2162 broad.mit.edu 37 6 6145903 6145903 + Silent SNP T T C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr6:6145903T>C ENST00000264870.3 - 15 2413 c.2148A>G c.(2146-2148)agA>agG p.R716R NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 716 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CATACACATGTCTCAGGGAGT 0.552000 13 69 0 0 0.119110 0 0 TBATA 219793 broad.mit.edu 37 10 72539466 72539466 + Missense_Mutation SNP C C A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr10:72539466C>A ENST00000299290.1 - 5 699 c.310G>T c.(310-312)Gat>Tat p.D104Y TBATA_ENST00000456372.2_Missense_Mutation_p.D104Y|TBATA_ENST00000545575.1_Missense_Mutation_p.D94Y NM_152710.2 NP_689923.2 thymus, brain and testes associated GCTGGAAAATCCCTGACGACA 0.552000 6 36 6.5536e-12 7.31429e-12 0.038147 1 0 TSTD2 158427 broad.mit.edu 37 9 100388080 100388080 + Nonsense_Mutation SNP G G C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr9:100388080G>C ENST00000341170.4 - 3 747 c.365C>G c.(364-366)tCa>tGa p.S122* TSTD2_ENST00000354801.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000375172.2_5'UTR NM_139246.4 NP_640339.4 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 122 large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 15 AAGACTCTTTGAGGTGCTCAA 0.433000 6 102 0 0 0.029380 0 0 FAM206A 54942 broad.mit.edu 37 9 111701692 111701692 + Silent SNP G G A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr9:111701692G>A ENST00000322940.6 + 5 672 c.366G>A c.(364-366)gtG>gtA p.V122V FAM206A_ENST00000374624.3_Intron NM_017832.3 NP_060302.1 Q9NX38 CI006_HUMAN family with sequence similarity 206, member A 122 glycine catabolic process glycine cleavage complex TGATGGAAGTGAATGAAAACA 0.274000 3 19 0 0 0.115264 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr7:55259515T>G ENST00000275493.2 + 21 2750 c.2573T>G c.(2572-2574)cTg>cGg p.L858R EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 858 Protein kinase. L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(1489)|p.L858Q(1)|p.L858K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537000 L858R(NCIH1975_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 36 75 0 0 0.235728 0 0 ZNF423 23090 broad.mit.edu 37 16 49669988 49669988 + Nonsense_Mutation SNP G G T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr16:49669988G>T ENST00000561648.1 - 4 3128 c.3075C>A c.(3073-3075)tgC>tgA p.C1025* ZNF423_ENST00000562871.1_Nonsense_Mutation_p.C965*|ZNF423_ENST00000567169.1_Nonsense_Mutation_p.C908*|ZNF423_ENST00000562520.1_Nonsense_Mutation_p.C965*|ZNF423_ENST00000262383.2_Nonsense_Mutation_p.C1025*|ZNF423_ENST00000563137.2_Nonsense_Mutation_p.C965*|ZNF423_ENST00000535559.1_Nonsense_Mutation_p.C908* NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1025 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CTGTCTGCATGCAGACCACAC 0.602000 12 25 1.08611e-07 1.18055e-07 0.080935 1 0 KIAA0556 23247 broad.mit.edu 37 16 27640151 27640151 + Splice_Site SNP G G T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr16:27640151G>T ENST00000261588.4 + 4 329 c.310_splice c.e4+1 p.D104_splice NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 104 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 GGGGACACACGGTGAGCACAG 0.522000 12 103 0.000151284 0.000156286 0.105934 1 0 OR4C11 219429 broad.mit.edu 37 11 55371540 55371540 + Missense_Mutation SNP A A T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr11:55371540A>T ENST00000302231.4 - 1 334 c.310T>A c.(310-312)Tta>Ata p.L104I NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 CAGCCAAATAAATGTAGTGCA 0.433000 34 336 0 0 0.163468 0 0 NOG 9241 broad.mit.edu 37 17 54672168 54672168 + Missense_Mutation SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr17:54672168C>T ENST00000332822.4 + 1 1109 c.584C>T c.(583-585)tCc>tTc p.S195F NM_005450.4 NP_005441.1 Q13253 NOGG_HUMAN noggin 195 BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing extracellular space cytokine binding|protein homodimerization activity ovary(1) 1 Breast(9;5.24e-08) TGCAAGCCGTCCAAGTCCGTG 0.667000 4 22 0 0 0.184627 0 0 RORB 6096 broad.mit.edu 37 9 77277459 77277459 + Missense_Mutation SNP G G C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr9:77277459G>C ENST00000376896.2 + 6 1441 c.829G>C c.(829-831)Gca>Cca p.A277P RORB_ENST00000396204.2_Missense_Mutation_p.A288P NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 288 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGTGGAGTTTGCAAAGCGGAT 0.448000 22 75 0 0 0.069288 0 0 RB1CC1 9821 broad.mit.edu 37 8 53588991 53588991 + Silent SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr8:53588991C>T ENST00000025008.5 - 6 1033 c.510G>A c.(508-510)aaG>aaA p.K170K RB1CC1_ENST00000539297.1_Silent_p.K170K|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Silent_p.K170K NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 170 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TACTTTCAAACTTGAAAAGTA 0.343000 6 43 0 0 0.029380 0 0 POLA2 23649 broad.mit.edu 37 11 65064645 65064645 + Missense_Mutation SNP G G A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr11:65064645G>A ENST00000265465.3 + 18 2233 c.1702G>A c.(1702-1704)Gga>Aga p.G568R POLA2_ENST00000534785.1_3'UTR NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 568 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) AGGGCAGGTGGGAGGCACCTT 0.617000 30 88 0 0 0.153744 0 0 PTPRT 11122 broad.mit.edu 37 20 40747110 40747110 + Nonsense_Mutation SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr20:40747110C>T ENST00000373198.3 - 22 3216 c.2981G>A c.(2980-2982)tGg>tAg p.W994* PTPRT_ENST00000373184.1_Nonsense_Mutation_p.W962*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.W981*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.W971*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.W975*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.W962*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.W972* NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 972 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GATCATTCTCCAAAAGTCCTT 0.547000 5 98 0 0 0.217242 0 0 STARD8 9754 broad.mit.edu 37 X 67940175 67940175 + Silent SNP A A C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chrX:67940175A>C ENST00000252336.6 + 7 2091 c.1719A>C c.(1717-1719)ccA>ccC p.P573P STARD8_ENST00000374597.3_Silent_p.P573P|STARD8_ENST00000374599.3_Silent_p.P653P NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 573 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity p.P573P(4)|p.P653P(2) NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 TTGGGGTGCCACCCCTCATCC 0.577000 6 41 0 0 0.080935 0 0 VWA5A 4013 broad.mit.edu 37 11 124013245 124013245 + Missense_Mutation SNP G G T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr11:124013245G>T ENST00000456829.2 + 17 2371 c.2120G>T c.(2119-2121)aGt>aTt p.S707I VWA5A_ENST00000392748.1_Missense_Mutation_p.S707I|VWA5A_ENST00000360334.4_3'UTR NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 707 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 CTAGGTATGAGTTTGGAAGAA 0.418000 5 96 3.59834e-05 3.77976e-05 0.217242 1 0 HR 55806 broad.mit.edu 37 8 21977361 21977361 + Silent SNP G G A rs144482432 byFrequency TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr8:21977361G>A ENST00000381418.4 - 14 4369 c.2889C>T c.(2887-2889)tgC>tgT p.C963C HR_ENST00000312841.8_Silent_p.C963C NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 963 JmjC. DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CATGGAGGGCGCAGTACTCCG 0.637000 3 45 0 0 0.184627 0 0 OR10X1 128367 broad.mit.edu 37 1 158549495 158549495 + Silent SNP A A C rs144602754 TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr1:158549495A>C ENST00000368150.1 - 1 194 c.195T>G c.(193-195)acT>acG p.T65T NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) TGTCCACCCAAGTTAGACCCA 0.483000 6 81 0 0 0.217242 0 0 HOOK3 84376 broad.mit.edu 37 8 42828457 42828457 + Missense_Mutation SNP C C G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr8:42828457C>G ENST00000307602.4 + 12 1348 c.1148C>G c.(1147-1149)tCc>tGc p.S383C NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 383 cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) AACAGATTATCCGAAGAATCA 0.294000 T RET papillary thyroid 8 51 0 0 0.047766 0 0 LCT 3938 broad.mit.edu 37 2 136590758 136590758 + Missense_Mutation SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr2:136590758C>T ENST00000264162.2 - 2 653 c.643G>A c.(643-645)Gga>Aga p.G215R NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 215 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GAGAGTTTTCCGCCTGAAACC 0.532000 6 104 0 0 0.217242 0 0 UBR5 51366 broad.mit.edu 37 8 103287796 103287796 + Missense_Mutation SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr8:103287796C>T ENST00000520539.1 - 47 7288 c.6682G>A c.(6682-6684)Gaa>Aaa p.E2228K UBR5_ENST00000521922.1_Missense_Mutation_p.E2222K|UBR5_ENST00000220959.4_Missense_Mutation_p.E2228K NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2228 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TTTTCCATTTCTCTGCGGAAT 0.313000 7 32 0 0 0.038147 0 0 ARHGAP6 395 broad.mit.edu 37 X 11682889 11682889 + Missense_Mutation SNP G G T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chrX:11682889G>T ENST00000337414.4 - 1 932 c.60C>A c.(58-60)agC>agA p.S20R ARHGAP6_ENST00000380718.1_Missense_Mutation_p.S20R|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.S20R NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 20 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CCGAGGCCGCGCTACTTGAAG 0.711000 7 8 0.0477658 0.0485424 0.047766 1 0 DKC1 1736 broad.mit.edu 37 X 153994220 153994220 + Silent SNP A A G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chrX:153994220A>G ENST00000369550.5 + 4 420 c.210A>G c.(208-210)acA>acG p.T70T NM_001142463.1|NM_001363.3 NP_001135935.1|NP_001354.1 O60832 DKC1_HUMAN dyskeratosis congenita 1, dyskerin 70 cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity p.T70T(1) breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CACACTATACACCTCTTGCAT 0.388000 Congenital Dyskeratosis 8 177 0 0 0.038147 0 0 OR2T10 127069 broad.mit.edu 37 1 248756568 248756568 + Missense_Mutation SNP A A C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr1:248756568A>C ENST00000330500.2 - 1 532 c.502T>G c.(502-504)Ttc>Gtc p.F168V NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATCTGCAGAAGGGGAAGCTC 0.507000 10 140 0 0 0.069234 0 0 ZNF664 144348 broad.mit.edu 37 12 124497263 124497263 + Missense_Mutation SNP G G C rs146116095 TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr12:124497263G>C ENST00000539644.1 + 6 2402 c.572G>C c.(571-573)aGa>aCa p.R191T ZNF664_ENST00000337815.4_Missense_Mutation_p.R191T|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.R191T|ZNF664_ENST00000392404.3_Missense_Mutation_p.R191T Q8N3J9 ZN664_HUMAN zinc finger protein 664 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(5)|lung(6)|skin(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) ATCCACCAGAGAGTCCACACT 0.512000 18 87 0 0 0.189662 0 0 POLA2 23649 broad.mit.edu 37 11 65064634 65064634 + Missense_Mutation SNP A A C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr11:65064634A>C ENST00000265465.3 + 18 2222 c.1691A>C c.(1690-1692)aAa>aCa p.K564T POLA2_ENST00000534785.1_3'UTR NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 564 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) CGCCTTACCAAAGGGCAGGTG 0.617000 32 100 0 0 0.163468 0 0 IFI16 3428 broad.mit.edu 37 1 159023414 159023414 + Missense_Mutation SNP A A C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr1:159023414A>C ENST00000295809.7 + 11 2432 c.2177A>C c.(2176-2178)aAc>aCc p.N726T IFI16_ENST00000359709.3_Missense_Mutation_p.N670T|IFI16_ENST00000340979.6_Missense_Mutation_p.N614T|IFI16_ENST00000368131.4_Missense_Mutation_p.N670T|IFI16_ENST00000368132.3_Missense_Mutation_p.N670T|IFI16_ENST00000448393.2_Missense_Mutation_p.N614T|IFI16_ENST00000430894.2_Missense_Mutation_p.N674T Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 726 HIN-200 2. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) ACCACAATCAACTGTGAGGAA 0.413000 8 141 0 0 0.038147 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762216 130762216 + Missense_Mutation SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr6:130762216C>T ENST00000392429.1 + 2 3027 c.649C>T c.(649-651)Cgg>Tgg p.R217W TMEM200A_ENST00000545622.1_Missense_Mutation_p.R217W|TMEM200A_ENST00000296978.3_Missense_Mutation_p.R217W NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 217 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CTCGGGTTTTCGGAGCAGTTT 0.478000 11 37 0 0 0.080935 0 0 ARID1A 8289 broad.mit.edu 37 1 27106069 27106069 + Nonsense_Mutation SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr1:27106069C>T ENST00000324856.7 + 20 6051 c.5680C>T c.(5680-5682)Cag>Tag p.Q1894* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1677*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1511*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q222* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1894 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) GACAACAGACCAGGAGGGGCC 0.597000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 64 68 0 0 0.139131 0 0 AMOT 154796 broad.mit.edu 37 X 112035062 112035062 + Nonsense_Mutation SNP G G A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chrX:112035062G>A ENST00000371959.3 - 6 1923 c.1924C>T c.(1924-1926)Cag>Tag p.Q642* AMOT_ENST00000304758.1_Nonsense_Mutation_p.Q233*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.Q410*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.Q410*|AMOT_ENST00000524145.1_Nonsense_Mutation_p.Q642* NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 642 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 CTCCATACCTGCTGGATTCTC 0.448000 44 136 0 0 0.139131 0 0 OR8I2 120586 broad.mit.edu 37 11 55861485 55861485 + Silent SNP G G A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr11:55861485G>A ENST00000302124.2 + 1 733 c.702G>A c.(700-702)caG>caA p.Q234Q OR8I2_ENST00000560768.1_3'UTR Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) CAGGCAGGCAGAAGGCCTTCT 0.468000 13 101 0 0 0.119110 0 0 BTK 695 broad.mit.edu 37 X 100611180 100611180 + Missense_Mutation SNP A A T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chrX:100611180A>T ENST00000308731.7 - 15 1589 c.1426T>A c.(1426-1428)Tac>Aac p.Y476N BTK_ENST00000372880.1_Intron NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 476 Protein kinase. Y -> D (in XLA). calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTGGCCATGTACTCAGTGATG 0.532000 Agammaglobulinemia, X-linked 31 64 0 0 0.144211 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984513 41984513 + Missense_Mutation SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr4:41984513C>T ENST00000333141.5 + 1 801 c.704C>T c.(703-705)aCg>aTg p.T235M NM_001029955.3 NP_001025126.2 Q3SXM0 DC4L1_HUMAN DDB1 and CUL4 associated factor 4-like 1 235 breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1) 37 TTTGCTAGTACGGCTCCTTTG 0.562000 24 149 0 0 0.108266 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144931348 144931348 + Missense_Mutation SNP G G C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr1:144931348G>C ENST00000529945.1 - 1 800 c.361C>G c.(361-363)Ccc>Gcc p.P121A PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.P121A|PDE4DIP_ENST00000369359.4_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTCGCATCGGGTAAGACGGAC 0.542000 T PDGFRB MPD 18 263 0 0 0.175082 0 0 IL32 9235 broad.mit.edu 37 16 3119263 3119263 + Silent SNP C C G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr16:3119263C>G ENST00000525643.2 + 7 806 c.474C>G c.(472-474)ctC>ctG p.L158L IL32_ENST00000548652.1_Silent_p.L149L|IL32_ENST00000008180.9_Silent_p.L138L|IL32_ENST00000529550.1_Silent_p.L158L|IL32_ENST00000534507.1_Silent_p.L204L|IL32_ENST00000552936.1_Silent_p.L182L|IL32_ENST00000444393.3_Silent_p.L158L|IL32_ENST00000325568.5_Silent_p.L158L|IL32_ENST00000530890.1_Silent_p.L138L|IL32_ENST00000548476.1_Silent_p.L204L|IL32_ENST00000551513.1_Silent_p.L195L|IL32_ENST00000531965.1_Silent_p.L148L|IL32_ENST00000382213.3_Silent_p.L149L|IL32_ENST00000552356.1_Silent_p.L138L|IL32_ENST00000530538.2_Silent_p.L158L|IL32_ENST00000551122.1_Intron|IL32_ENST00000548246.1_Silent_p.L118L|IL32_ENST00000526464.2_Silent_p.L158L|IL32_ENST00000529699.1_Silent_p.L138L|IL32_ENST00000528163.2_Silent_p.L158L|IL32_ENST00000533097.2_Silent_p.L158L|IL32_ENST00000549213.1_Intron|IL32_ENST00000440815.3_Silent_p.L158L|IL32_ENST00000552664.1_Silent_p.L158L|IL32_ENST00000396887.3_Intron|IL32_ENST00000396890.2_Silent_p.L204L P24001 IL32_HUMAN interleukin 32 204 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 TGTCAGAGCTCTTCATGTCCT 0.567000 63 122 0 0 0.139131 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 4 59 0 0 0.217242 0 0 UNC5C 8633 broad.mit.edu 37 4 96166259 96166259 + Missense_Mutation SNP A A G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr4:96166259A>G ENST00000453304.1 - 6 1160 c.812T>C c.(811-813)gTg>gCg p.V271A UNC5C_ENST00000506749.1_Missense_Mutation_p.V271A NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 271 TSP type-1 1. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GCTGTTACACACAGACCACTC 0.527000 3 44 0 0 0.115264 0 0 ZNF547 284306 broad.mit.edu 37 19 57883181 57883181 + Missense_Mutation SNP A A G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr19:57883181A>G ENST00000282282.3 + 3 206 c.56A>G c.(55-57)tAt>tGt p.Y19C AC003002.4_ENST00000597658.1_Missense_Mutation_p.Y19C NM_173631.2 NP_775902.2 Q8IVP9 ZN547_HUMAN zinc finger protein 547 19 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTGGCCATATATTTCTCCCAG 0.438000 12 212 0 0 0.093190 0 0 PIGT 51604 broad.mit.edu 37 20 44053148 44053148 + Silent SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr20:44053148C>T ENST00000279036.6 + 11 1493 c.1413C>T c.(1411-1413)ctC>ctT p.L471L PIGT_ENST00000341555.5_Silent_p.L277L|PIGT_ENST00000535404.1_Silent_p.L316L|PIGT_ENST00000543458.2_Silent_p.L415L|PIGT_ENST00000545755.1_Silent_p.L209L|PIGT_ENST00000279035.9_Silent_p.L369L|PIGT_ENST00000372689.5_Silent_p.L404L NM_015937.5 NP_057021.2 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, class T 471 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1) 22 Myeloproliferative disorder(115;0.0122) CATCTGTCCTCAGCGCCCTTG 0.567000 9 63 0 0 0.058154 0 0 BRD2 6046 broad.mit.edu 37 6 32944128 32944128 + Missense_Mutation SNP C C T rs138654993 byFrequency TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr6:32944128C>T ENST00000395289.2 + 6 2313 c.712C>T c.(712-714)Ctc>Ttc p.L238F BRD2_ENST00000374831.4_Missense_Mutation_p.L238F|BRD2_ENST00000374825.4_Missense_Mutation_p.L238F|BRD2_ENST00000395287.1_Missense_Mutation_p.L238F|BRD2_ENST00000443797.2_Missense_Mutation_p.L118F|BRD2_ENST00000449085.2_Missense_Mutation_p.L191F P25440 BRD2_HUMAN bromodomain containing 2 238 L -> F (in dbSNP:rs176250). spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 TACCACTGTCCTCAACATTCC 0.567000 5 100 0 0 0.029380 0 0 GRIN2D 2906 broad.mit.edu 37 19 48922564 48922564 + Silent SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr19:48922564C>T ENST00000263269.3 + 8 1897 c.1809C>T c.(1807-1809)atC>atT p.I603I NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 603 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) CTGTTTTCATCTTCGAGTACC 0.607000 16 29 0 0 0.146539 0 0 PCDH15 65217 broad.mit.edu 37 10 55892725 55892725 + Missense_Mutation SNP A A T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr10:55892725A>T ENST00000373965.2 - 16 2242 c.1848T>A c.(1846-1848)aaT>aaA p.N616K PCDH15_ENST00000395445.1_Missense_Mutation_p.N616K|PCDH15_ENST00000361849.3_Missense_Mutation_p.N609K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.N572K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.N609K|PCDH15_ENST00000320301.6_Missense_Mutation_p.N609K|PCDH15_ENST00000395430.1_Missense_Mutation_p.N609K|PCDH15_ENST00000414778.1_Missense_Mutation_p.N614K|PCDH15_ENST00000395446.1_Missense_Mutation_p.N609K|PCDH15_ENST00000373957.3_Missense_Mutation_p.N587K|PCDH15_ENST00000409834.1_Missense_Mutation_p.N220K|PCDH15_ENST00000395433.1_Missense_Mutation_p.N587K|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.N609K NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 609 Cadherin 5. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GGCTTTGATTATTTGGTGGAA 0.413000 HNSCC(58;0.16) 8 25 0 0 0.038147 0 0 OR14A16 284532 broad.mit.edu 37 1 247978985 247978985 + Missense_Mutation SNP G G C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr1:247978985G>C ENST00000357627.1 - 1 46 c.47C>G c.(46-48)tCt>tGt p.S16C NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 TTTATTGGTAGAAAACCCCAT 0.358000 4 43 0 0 0.184627 0 0 PTCHD1 139411 broad.mit.edu 37 X 23411590 23411590 + Missense_Mutation SNP A A C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chrX:23411590A>C ENST00000379361.4 + 3 2815 c.1955A>C c.(1954-1956)aAg>aCg p.K652T NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 652 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 TTGGTGGCCAAGACCATGGAA 0.428000 6 135 0 0 0.217242 0 0 TBC1D7 51256 broad.mit.edu 37 6 13306666 13306666 + Silent SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr6:13306666C>T ENST00000379300.3 - 7 1002 c.759G>A c.(757-759)ctG>ctA p.L253L TBC1D7_ENST00000607658.1_3'UTR|TBC1D7_ENST00000343141.4_Silent_p.L207L|TBC1D7_ENST00000356436.4_Silent_p.L253L|TBC1D7_ENST00000379307.2_Silent_p.L226L NM_001143964.2|NM_016495.4 NP_001137436.1|NP_057579.1 Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 253 positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1) 22 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) CTGCACTGTTCAGTGCCATAA 0.338000 4 45 0 0 0.150653 0 0 MSL3 10943 broad.mit.edu 37 X 11778598 11778598 + Silent SNP A A C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chrX:11778598A>C ENST00000337339.2 + 3 289 c.262A>C c.(262-264)Aga>Cga p.R88R MSL3_ENST00000398527.2_Silent_p.R76R|MSL3_ENST00000361672.2_5'UTR|MSL3_ENST00000312196.4_Silent_p.R88R|MSL3_ENST00000380693.3_5'UTR NM_078628.1 NP_523352.1 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3 homolog (Drosophila) 88 Chromo. histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 TAAATTGGCAAGAAAAGCTGT 0.328000 6 117 0 0 0.217242 0 0 MYH8 4626 broad.mit.edu 37 17 10317241 10317241 + Silent SNP T T C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr17:10317241T>C ENST00000403437.2 - 12 1219 c.1125A>G c.(1123-1125)caA>caG p.Q375Q CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 375 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CTGGCTCAGCTTGCTCCTCAC 0.413000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 28 149 0 0 0.125774 0 0 UNC79 57578 broad.mit.edu 37 14 94088785 94088785 + Missense_Mutation SNP T T C TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr14:94088785T>C ENST00000553484.1 + 31 5426 c.5272T>C c.(5272-5274)Tcc>Ccc p.S1758P UNC79_ENST00000555664.1_Missense_Mutation_p.S1736P|UNC79_ENST00000393151.2_Missense_Mutation_p.S1736P|UNC79_ENST00000256339.4_Missense_Mutation_p.S1559P Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1736 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GCCAGAGTTCTCCTGCGGTAG 0.557000 20 80 0 0 0.219247 0 0 CHD5 26038 broad.mit.edu 37 1 6186807 6186807 + Splice_Site SNP C C T TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr1:6186807C>T ENST00000262450.3 - 26 4003 c.e26-1 CHD5_ENST00000378021.1_Splice_Site NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CCACCTCCTCCTGGGGACGCA 0.647000 3 39 0 0 0.115264 0 0 NWD1 284434 broad.mit.edu 37 19 16899898 16899898 + Missense_Mutation SNP T T G TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr19:16899898T>G ENST00000524140.2 + 13 3255 c.2837T>G c.(2836-2838)tTt>tGt p.F946C NWD1_ENST00000552788.1_Missense_Mutation_p.F946C|NWD1_ENST00000549814.1_Missense_Mutation_p.F946C|NWD1_ENST00000523826.1_Missense_Mutation_p.F740C|NWD1_ENST00000379808.3_Missense_Mutation_p.F946C|NWD1_ENST00000339803.6_Missense_Mutation_p.F811C NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 946 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CAGGAGAAATTTACCATTTGG 0.473000 4 43 0 0 0.150653 0 0 KDM4A 9682 broad.mit.edu 37 1 44133491 44133493 + In_Frame_Del DEL AGA AGA - TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr1:44133491_44133493delAGA ENST00000372396.3 + 9 1098_1100 c.964_966delAGA c.(964-966)del p.R322del NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 322 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 TGTGTTTGTGAGAAAGTTCCAGC 0.483 20 80 --- --- --- --- IRF2BP2 359948 broad.mit.edu 37 1 234743032 234743034 + In_Frame_Del DEL TGA TGA - TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr1:234743032_234743034delTGA ENST00000366609.3 - 2 1643_1645 c.1613_1615delTCA c.(1612-1617)aaa>a p.IK538del RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_In_Frame_Del_p.IK522del|IRF2BP2_ENST00000491430.1_5'UTR NM_182972.2 NP_892017.2 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 538 Cys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) CCCTGCTGTTTGATGCTTTGTCT 0.567 46 69 --- --- --- --- KIF13B 23303 broad.mit.edu 37 8 28928144 28928144 + Frame_Shift_Del DEL G G - TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr8:28928144delG ENST00000524189.1 - 40 5396 c.5358delC c.(5356-5358)ccfs p.P1786fs KIF13B_ENST00000404075.3_Frame_Shift_Del_p.P305fs NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1786 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) GGCGGGCCTCGGGGGCACCCA 0.736 2 4 --- --- --- --- HNRNPKP3 399881 broad.mit.edu 37 11 43283605 43283606 + RNA INS - - A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr11:43283605_43283606insA ENST00000511537.1 - 0 1329_1330 NR_033868.1 GAAGCAAATGTAAAAAAAAAAA 0.386 3 6 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102743846 102743847 + RNA INS - - A TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr11:102743846_102743847insA ENST00000532855.1 - 0 199 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGTATCTCTGGAAAAAAAAATA 0.332 3 4 --- --- --- --- CD9 928 broad.mit.edu 37 12 6344416 6344416 + Frame_Shift_Del DEL T T - TCGA-64-1681-01A-11D-2063-08 TCGA-64-1681-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3813c301-9622-4567-bc72-d17acbeb236f dde29d2e-09a2-4467-a8f4-2b1d37ce634a g.chr12:6344416delT ENST00000382518.1 + 6 806 c.370delT c.(370-372)ttfs p.F124fs CD9_ENST00000009180.4_Frame_Shift_Del_p.F124fs|CD9_ENST00000382515.2_Frame_Shift_Del_p.F55fs|CD9_ENST00000481267.1_3'UTR P21926 CD9_HUMAN CD9 molecule 124 cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation integral to plasma membrane|platelet alpha granule membrane endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 8 AGTCCAGGAGTTTTACAAGGA 0.498 27 70 --- --- --- ---