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 DLG2 1740 broad.mit.edu 37 11 83641505 83641505 + Missense_Mutation SNP G G T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr11:83641505G>T ENST00000398309.2 - 10 1517 c.1047C>A c.(1045-1047)agC>agA p.S349R DLG2_ENST00000543673.1_Missense_Mutation_p.S454R|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.S103R|DLG2_ENST00000376104.2_Missense_Mutation_p.S454R|DLG2_ENST00000330014.6_Missense_Mutation_p.S288R|DLG2_ENST00000532653.1_Missense_Mutation_p.S349R|DLG2_ENST00000524982.1_Missense_Mutation_p.S349R|DLG2_ENST00000280241.8_Missense_Mutation_p.S388R|DLG2_ENST00000531015.1_Missense_Mutation_p.S316R|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.S388R NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 349 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TGTTCACAGTGCTGTAAACAG 0.483000 20 8 1.2644e-06 1.35366e-06 1 1 0 SGCB 6443 broad.mit.edu 37 4 52894901 52894901 + Missense_Mutation SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr4:52894901C>T ENST00000381431.5 - 4 838 c.616G>A c.(616-618)Gaa>Aaa p.E206K SGCB_ENST00000535450.1_Missense_Mutation_p.E136K NM_000232.4 NP_000223.1 Q16585 SGCB_HUMAN sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) 206 Cys-rich. cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1) 17 GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204) CATACCCTTTCAGTAGATGCC 0.343000 4 39 0 0 1 0 0 MTX3 345778 broad.mit.edu 37 5 79284343 79284343 + Missense_Mutation SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr5:79284343C>T ENST00000512560.1 - 4 382 c.263G>A c.(262-264)aGg>aAg p.R88K MTX3_ENST00000509852.1_Missense_Mutation_p.R149K|MTX3_ENST00000512528.1_Missense_Mutation_p.R149K NM_001167741.1 NP_001161213.1 Q5HYI7 MTX3_HUMAN metaxin 3 149 protein targeting to mitochondrion mitochondrial outer membrane endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1) 7 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35) CAGGAGAATCCTATTCAGTGC 0.458000 10 2 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49752754 49752754 + Silent SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr13:49752754G>A ENST00000492622.2 + 14 1886 c.1581G>A c.(1579-1581)gtG>gtA p.V527V FNDC3A_ENST00000398316.3_Silent_p.V471V|FNDC3A_ENST00000541916.1_Silent_p.V527V NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 527 Fibronectin type-III 3. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) CTTACACAGTGAAAAATCTCA 0.343000 5 34 0 0 1 0 0 TFCP2L1 29842 broad.mit.edu 37 2 121997182 121997182 + Missense_Mutation SNP G G A rs137971940 TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr2:121997182G>A ENST00000263707.5 - 8 909 c.812C>T c.(811-813)cCg>cTg p.P271L NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 271 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) GCTTGGGGACGGGGCGCTGTT 0.612000 21 24 0 0 1 0 0 ZNF706 51123 broad.mit.edu 37 8 102213947 102213947 + Missense_Mutation SNP A A T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr8:102213947A>T ENST00000520347.1 - 2 2979 c.23T>A c.(22-24)aTt>aAt p.I8N ZNF706_ENST00000521272.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519882.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519744.1_Missense_Mutation_p.I8N|ZNF706_ENST00000518336.1_Missense_Mutation_p.I8N|ZNF706_ENST00000520984.1_Missense_Mutation_p.I8N|ZNF706_ENST00000517844.1_Missense_Mutation_p.I8N|ZNF706_ENST00000311212.4_Missense_Mutation_p.I8N Q9Y5V0 ZN706_HUMAN zinc finger protein 706 8 intracellular zinc ion binding large_intestine(1)|ovary(2) 3 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGAGACTGAATTTTCTGCTG 0.393000 6 51 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101788189 101788189 + Missense_Mutation SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr9:101788189C>G ENST00000375001.3 + 16 2407 c.1984C>G c.(1984-1986)Cct>Gct p.P662A NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 662 Triple-helical region 2 (COL2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TCCCCAGGGCCCTGAGGGACA 0.577000 10 3 0 0 1 0 0 RAB3A 5864 broad.mit.edu 37 19 18313497 18313497 + Missense_Mutation SNP G G C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr19:18313497G>C ENST00000222256.4 - 2 232 c.54C>G c.(52-54)aaC>aaG p.N18K RAB3A_ENST00000464076.2_Intron NM_002866.4 NP_002857.1 P20336 RAB3A_HUMAN RAB3A, member RAS oncogene family 18 glutamate secretion|protein transport|small GTPase mediated signal transduction clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle GTP binding|GTPase activity NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 8 TGTAGTCGAAGTTCTGATCCG 0.582000 OREG0025360 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 99 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579358 7579358 + Missense_Mutation SNP C C A rs11540654 TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr17:7579358C>A ENST00000420246.2 - 4 461 c.329G>T c.(328-330)cGt>cTt p.R110L TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000269305.4_Missense_Mutation_p.R110L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 110 Interaction with HIPK1 (By similarity).|Interaction with WWOX. R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (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.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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) GAAGCCCAGACGGAAACCGTA 0.612000 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) 38 44 1.56738e-10 1.74664e-10 1 1 0 ATXN3 4287 broad.mit.edu 37 14 92563179 92563179 + Nonsense_Mutation SNP C C A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr14:92563179C>A ENST00000545170.1 - 2 96 c.28G>T c.(28-30)Gaa>Taa p.E10* ATXN3_ENST00000503767.1_Nonsense_Mutation_p.E10*|ATXN3_ENST00000532032.1_Nonsense_Mutation_p.E10*|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000429774.2_Nonsense_Mutation_p.E10*|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_Nonsense_Mutation_p.E10*|ATXN3_ENST00000340660.6_Intron NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5 NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2 P54252 ATX3_HUMAN ataxin 3 10 Josephin. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 12 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) AGTGAGCCTTCTTGCTAATAT 0.328000 16 43 7.07596e-05 7.40129e-05 1 1 0 DENND4B 9909 broad.mit.edu 37 1 153907346 153907346 + Missense_Mutation SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr1:153907346C>T ENST00000361217.4 - 18 3081 c.2663G>A c.(2662-2664)cGc>cAc p.R888H NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 888 Gln-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAAGGGCTGGCGGAACTGAGC 0.627000 20 117 0 0 1 0 0 GHRL 51738 broad.mit.edu 37 3 10331501 10331501 + Missense_Mutation SNP A A T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr3:10331501A>T ENST00000335542.8 - 4 1040 c.170T>A c.(169-171)cTc>cAc p.L57H GHRL_ENST00000437422.2_Missense_Mutation_p.L45H|GHRLOS_ENST00000605105.1_RNA|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000449554.2_Missense_Mutation_p.L56H|GHRL_ENST00000429122.1_Missense_Mutation_p.L57H|GHRL_ENST00000449238.2_Missense_Mutation_p.L44H|GHRL_ENST00000422159.1_Missense_Mutation_p.L57H|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000439975.2_Intron|GHRL_ENST00000287656.7_Missense_Mutation_p.L56H|GHRL_ENST00000457360.1_Missense_Mutation_p.L57H|GHRL_ENST00000430179.1_Missense_Mutation_p.L56H|GHRL_ENST00000450603.1_Missense_Mutation_p.L57H|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000446937.2_Intron Q9UBU3 GHRL_HUMAN ghrelin/obestatin prepropeptide 57 actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity breast(2)|large_intestine(1)|lung(1)|ovary(1) 5 TTCCGGGCGGAGCCAGCCTGC 0.587000 60 36 0 0 1 0 0 FBXO46 23403 broad.mit.edu 37 19 46215299 46215299 + Silent SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr19:46215299G>A ENST00000317683.3 - 2 1588 c.1455C>T c.(1453-1455)ttC>ttT p.F485F NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 485 F-box. protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GCAGGAAGCTGAAGATCTTGA 0.632000 6 23 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104753117 104753117 + Silent SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr7:104753117G>A ENST00000334877.4 + 26 5322 c.4788G>A c.(4786-4788)ccG>ccA p.P1596P KMT2E_ENST00000257745.4_Silent_p.P1638P|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Silent_p.P1638P lysine (K)-specific methyltransferase 2E CTCCAGGACCGCACCTTGTAC 0.547000 3 53 0 0 1 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49320740 49320740 + Silent SNP A A G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr15:49320740A>G ENST00000559471.1 - 5 1067 c.804T>C c.(802-804)atT>atC p.I268I SECISBP2L_ENST00000261847.3_Silent_p.I268I NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 268 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 TATCACTGTCAATGTCGGCTT 0.512000 14 12 0 0 1 0 0 CRTC1 23373 broad.mit.edu 37 19 18853806 18853806 + Silent SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr19:18853806C>T ENST00000338797.6 + 2 238 c.213C>T c.(211-213)atC>atT p.I71I CRTC1_ENST00000321949.8_Silent_p.I71I|CRTC1_ENST00000594658.1_Silent_p.I30I|CRTC1_ENST00000601916.1_5'UTR NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 71 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 TGAACCAGATCGGGAGTGGCA 0.667000 17 25 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30681733 30681733 + Missense_Mutation SNP G G A rs137893469 by1000genomes TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr6:30681733G>A ENST00000376406.3 - 3 1011 c.364C>T c.(364-366)Ctc>Ttc p.L122F MDC1_ENST00000376405.2_Missense_Mutation_p.L122F NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 122 Interaction with CHEK2.|Interaction with the MRN complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TCAGCAAAGAGAATCAATTCC 0.552000 Other conserved DNA damage response genes 35 14 0 0 1 0 0 C9orf172 389813 broad.mit.edu 37 9 139741083 139741083 + Missense_Mutation SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr9:139741083C>G ENST00000436881.1 + 1 2217 c.2217C>G c.(2215-2217)atC>atG p.I739M NM_001080482.2 NP_001073951.2 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 739 endometrium(2)|large_intestine(1)|lung(6) 9 TCTCGCGCATCGCGCGTGTCG 0.706000 3 13 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85405916 85405916 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr15:85405916G>A ENST00000258888.5 + 10 4953 c.4786G>A c.(4786-4788)Gac>Aac p.D1596N NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1596 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GGGTCTGGCTGACTCTGGCTG 0.582000 13 33 0 0 1 0 0 LSM14A 26065 broad.mit.edu 37 19 34710341 34710341 + Missense_Mutation SNP G G T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr19:34710341G>T ENST00000544216.3 + 7 904 c.827G>T c.(826-828)cGg>cTg p.R276L LSM14A_ENST00000433627.5_Missense_Mutation_p.R276L|LSM14A_ENST00000540746.2_Missense_Mutation_p.R235L NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 276 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) GGGGGTCATCGGGGTGGCAGG 0.438000 3 75 0.115264 0.115901 1 1 0 CSPP1 79848 broad.mit.edu 37 8 68092140 68092140 + Nonsense_Mutation SNP G G T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr8:68092140G>T ENST00000262210.5 + 26 3215 c.3184G>T c.(3184-3186)Gaa>Taa p.E1062* CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Nonsense_Mutation_p.E717*|ARFGEF1_ENST00000520381.1_Intron NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 1097 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) CTCATTATTGGAATCTGATAG 0.274000 15 33 4.14922e-12 4.69042e-12 1 1 0 RNF17 56163 broad.mit.edu 37 13 25451309 25451309 + Silent SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr13:25451309C>G ENST00000255324.5 + 34 4810 c.4758C>G c.(4756-4758)ctC>ctG p.L1586L RNF17_ENST00000339524.3_Silent_p.L596L|RNF17_ENST00000381921.1_Silent_p.L1544L NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1586 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GAAAACAACTCTATGCTGTGT 0.418000 7 11 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21526172 21526172 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr18:21526172G>A ENST00000313654.9 + 70 9516 c.9275G>A c.(9274-9276)gGa>gAa p.G3092E LAMA3_ENST00000399516.3_Missense_Mutation_p.G3036E|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.G1427E|LAMA3_ENST00000269217.6_Missense_Mutation_p.G1483E NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 3092 Laminin G-like 4. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCCGGGAGGGAAGTTTGCCT 0.493000 7 44 0 0 1 0 0 OR4C12 283093 broad.mit.edu 37 11 50003589 50003589 + Missense_Mutation SNP C C A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr11:50003589C>A ENST00000335238.4 - 1 482 c.449G>T c.(448-450)gGa>gTa p.G150V NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 ATGAAGAAATCCTCCCACCCA 0.498000 62 100 5.52965e-18 6.32953e-18 1 1 0 CD68 968 broad.mit.edu 37 17 7483025 7483025 + Silent SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr17:7483025C>T ENST00000250092.6 + 1 241 c.30C>T c.(28-30)gcC>gcT p.A10A CD68_ENST00000380498.6_Silent_p.A10A NM_001251.2 NP_001242.2 P34810 CD68_HUMAN CD68 molecule 10 endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane endometrium(1)|lung(1)|skin(1) 3 TCTCGGGGGCCCTGCTGGGGC 0.637000 3 11 0 0 1 0 0 CALU 813 broad.mit.edu 37 7 128407640 128407640 + Silent SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr7:128407640C>T ENST00000542996.2 + 7 1741 c.798C>T c.(796-798)atC>atT p.I266I CALU_ENST00000249364.4_Silent_p.I258I|CALU_ENST00000479257.1_Silent_p.I266I|CALU_ENST00000538546.1_Silent_p.I107I|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000449187.2_Silent_p.I258I|CALU_ENST00000535011.2_Intron NM_001199672.1 NP_001186601.1 O43852 CALU_HUMAN calumenin 258 EF-hand 6. platelet activation|platelet degranulation extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen calcium ion binding|protein binding kidney(2)|large_intestine(3)|lung(5) 10 AAGACTGGATCCTTCCCTCAG 0.502000 18 10 0 0 1 0 0 ANKRD10 55608 broad.mit.edu 37 13 111546470 111546470 + Missense_Mutation SNP T T A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr13:111546470T>A ENST00000375758.5 - 4 669 c.535A>T c.(535-537)Att>Ttt p.I179F ANKRD10_ENST00000489973.2_5'UTR|ANKRD10_ENST00000310847.4_Missense_Mutation_p.I179F|ANKRD10_ENST00000267339.2_Intron Q9NXR5 ANR10_HUMAN ankyrin repeat domain 10 0 central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3) 9 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208) AGACACTGAATTAAAACTGAG 0.368000 6 39 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48848436 48848436 + Missense_Mutation SNP G G C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr8:48848436G>C ENST00000314191.2 - 13 1359 c.1303C>G c.(1303-1305)Ctg>Gtg p.L435V PRKDC_ENST00000338368.3_Missense_Mutation_p.L435V|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 435 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGTGCTCCAGAACTGGAGTA 0.433000 Non-homologous end-joining 7 11 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14312825 14312825 + Silent SNP A A G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr16:14312825A>G ENST00000571589.1 + 8 835 c.663A>G c.(661-663)ccA>ccG p.P221P MKL2_ENST00000341243.5_Silent_p.P210P|MKL2_ENST00000572567.1_Silent_p.P210P|MKL2_ENST00000573051.1_Silent_p.P170P|MKL2_ENST00000318282.5_Silent_p.P221P|MKL2_ENST00000574045.1_Silent_p.P221P NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 210 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GTGAATCGCCATCTCCTGTGA 0.458000 8 28 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3188882 3188882 + Missense_Mutation SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr18:3188882C>T ENST00000400569.3 - 4 968 c.635G>A c.(634-636)aGg>aAg p.R212K MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K|MYOM1_ENST00000356443.4_Missense_Mutation_p.R212K P52179 MYOM1_HUMAN myomesin 1 212 6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle p.R212K(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CGTGGACTGCCTGGATGCCGT 0.517000 4 48 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971111 21971111 + Missense_Mutation SNP G G A rs121913385 TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr9:21971111G>A ENST00000579755.1 - 2 582 c.290C>T c.(289-291)gCa>gTa p.A97V CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 L -> R (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCAGCGTCGTGCACGGGTCGG 0.741000 H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 31 7 0 0 1 0 0 TAS2R30 259293 broad.mit.edu 37 12 11286670 11286670 + Missense_Mutation SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr12:11286670C>G ENST00000539585.1 - 1 573 c.174G>C c.(172-174)ttG>ttC p.L58F PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_001097643.1 NP_001091112.1 taste receptor, type 2, member 30 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 13 ACACCCAGAGCAAACCAACTC 0.408000 3 119 0 0 1 0 0 ADRBK1 156 broad.mit.edu 37 11 67044773 67044773 + Silent SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr11:67044773G>A ENST00000308595.5 + 2 434 c.144G>A c.(142-144)gaG>gaA p.E48E ADRBK1_ENST00000526285.1_Silent_p.E48E NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 48 N-terminal. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) AGTACCTGGAGGACCGGGGCG 0.617000 4 162 0 0 1 0 0 MORF4L2 9643 broad.mit.edu 37 X 102931249 102931249 + Missense_Mutation SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chrX:102931249C>G ENST00000423833.2 - 3 1932 c.707G>C c.(706-708)gGa>gCa p.G236A MORF4L2_ENST00000451301.1_Missense_Mutation_p.G236A|MORF4L2_ENST00000360458.1_Missense_Mutation_p.G236A|MORF4L2_ENST00000441076.2_Missense_Mutation_p.G236A|MORF4L2_ENST00000422154.2_Missense_Mutation_p.G236A|MORF4L2_ENST00000433176.2_Missense_Mutation_p.G236A|MORF4L2_ENST00000372620.1_Missense_Mutation_p.G118A Q15014 MO4L2_HUMAN mortality factor 4 like 2 236 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding p.G236V(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7) 13 CAACATTGCTCCAATTCTTAC 0.443000 4 33 0 0 1 0 0 CDAN1 146059 broad.mit.edu 37 15 43026218 43026218 + Missense_Mutation SNP G G C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr15:43026218G>C ENST00000356231.3 - 8 1308 c.1285C>G c.(1285-1287)Caa>Gaa p.Q429E NM_138477.2 NP_612486.2 Q8IWY9 CDAN1_HUMAN codanin 1 429 integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) GAGACAGCTTGAGTAGAGGGA 0.468000 16 8 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75051480 75051480 + Silent SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr10:75051480C>T ENST00000310715.3 - 19 2268 c.2148G>A c.(2146-2148)ttG>ttA p.L716L TTC18_ENST00000355577.3_Silent_p.L185L|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Silent_p.L716L|TTC18_ENST00000394865.1_Silent_p.L716L NM_145170.3 NP_660153.3 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 716 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) CATAGTTCTCCAACAGGACAG 0.408000 4 21 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62065124 62065124 + Missense_Mutation SNP G G T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr20:62065124G>T ENST00000344425.5 - 8 1330 c.1156C>A c.(1156-1158)Cat>Aat p.H386N KCNQ2_ENST00000370224.1_Intron|KCNQ2_ENST00000370221.1_Intron|KCNQ2_ENST00000359689.1_Intron|KCNQ2_ENST00000360480.3_Intron|KCNQ2_ENST00000344462.3_Intron|KCNQ2_ENST00000354587.3_Intron|KCNQ2_ENST00000370222.3_Intron|KCNQ2_ENST00000370226.1_Intron|KCNQ2_ENST00000357249.2_Intron|KCNQ2_ENST00000430658.1_Intron|KCNQ2_ENST00000359125.2_Intron|KCNQ2_ENST00000482957.1_5'UTR NM_172109.1 NP_742107.1 O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 0 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) AATAAAAAATGAAACAGTTGC 0.433000 8 55 5.18039e-06 5.48158e-06 1 1 0 MUC17 140453 broad.mit.edu 37 7 100677236 100677236 + Missense_Mutation SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr7:100677236C>T ENST00000306151.4 + 3 2603 c.2539C>T c.(2539-2541)Cct>Tct p.P847S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 847 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAGTTCATCTCCTACACCTGC 0.502000 108 197 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74384602 74384602 + RNA SNP T T C rs140327841 by1000genomes TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr16:74384602T>C ENST00000429810.2 - 0 849 TGCCCATTACTTGAAGAACAG 0.458000 2 10 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191900890 191900890 + Splice_Site SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr2:191900890C>T ENST00000392320.2 - 17 1884 c.1570_splice c.e17+1 p.V524_splice STAT4_ENST00000358470.4_Splice_Site_p.V524_splice NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 524 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) CAGCTCTCACCTGTAAGCTTC 0.423000 10 14 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32914805 32914805 + Missense_Mutation SNP A A G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr13:32914805A>G ENST00000544455.1 + 11 6540 c.6313A>G c.(6313-6315)Ata>Gta p.I2105V BRCA2_ENST00000380152.3_Missense_Mutation_p.I2105V NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2105 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TGTATCAAAAATACTTCCTCG 0.328000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 13 15 0 0 1 0 0 GGNBP2 79893 broad.mit.edu 37 17 34935812 34935812 + Missense_Mutation SNP T T C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr17:34935812T>C ENST00000304718.4 + 8 1299 c.983T>C c.(982-984)tTc>tCc p.F328S NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 328 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) CAGATGCTTTTCTATCTTGGT 0.433000 26 95 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63851485 63851485 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr10:63851485G>A ENST00000279873.7 + 10 2673 c.2263G>A c.(2263-2265)Gtc>Atc p.V755I ARID5B_ENST00000309334.5_Missense_Mutation_p.V512I NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 755 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GATTCAGCACGTCCAGAGTTT 0.512000 5 90 0 0 1 0 0 CHSY3 337876 broad.mit.edu 37 5 129241116 129241116 + Silent SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr5:129241116C>T ENST00000305031.4 + 1 952 c.594C>T c.(592-594)ttC>ttT p.F198F CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 198 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) GGGCGCGTTTCATCCCGGGCC 0.721000 7 10 0 0 1 0 0 GDPGP1 390637 broad.mit.edu 37 15 90785083 90785083 + Missense_Mutation SNP G G C rs35018599 TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr15:90785083G>C ENST00000558017.1 + 4 1363 c.943G>C c.(943-945)Gcc>Ccc p.A315P GDPGP1_ENST00000329600.6_Missense_Mutation_p.A315P NM_001013657.2 NP_001013679.2 Q6ZNW5 VTC2_HUMAN GDP-D-glucose phosphorylase 1 315 glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity AATTCTGTGGGCCCGGAAGTC 0.552000 27 32 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43601966 43601966 + Missense_Mutation SNP A A T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr10:43601966A>T ENST00000355710.3 + 5 1242 c.1010A>T c.(1009-1011)gAg>gTg p.E337V RET_ENST00000340058.5_Missense_Mutation_p.E337V NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 337 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) TGGCCCAACGAGACCTCGGTC 0.652000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 6 11 0 0 1 0 0 XAB2 56949 broad.mit.edu 37 19 7685323 7685323 + Missense_Mutation SNP C C T rs4134865 TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr19:7685323C>T ENST00000358368.4 - 16 2141 c.2104G>A c.(2104-2106)Gcg>Acg p.A702T XAB2_ENST00000534844.1_Missense_Mutation_p.A699T NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 702 A -> T (in dbSNP:rs4134865). transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 TGCCAGAACGCGCCGGTCGTC 0.657000 Direct reversal of damage;Nucleotide excision repair (NER) 10 73 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101715220 101715220 + Missense_Mutation SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr10:101715220C>G ENST00000342239.3 - 4 2102 c.2011G>C c.(2011-2013)Gag>Cag p.E671Q DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.E671Q Q6XZF7 DNMBP_HUMAN dynamin binding protein 671 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) TCTAAGGTCTCACAGGTAGGA 0.597000 9 32 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 100971314 100971314 + Missense_Mutation SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr9:100971314C>T ENST00000375066.5 - 9 1877 c.1786G>A c.(1786-1788)Gag>Aag p.E596K TBC1D2_ENST00000375063.1_Missense_Mutation_p.E136K|TBC1D2_ENST00000375064.1_Missense_Mutation_p.E596K|TBC1D2_ENST00000342112.5_Missense_Mutation_p.E378K|TBC1D2_ENST00000493589.2_5'UTR NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 596 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) TCCACAGCCTCGAGGCCCAGC 0.647000 11 212 0 0 1 0 0 PSMB10 5699 broad.mit.edu 37 16 67969351 67969351 + Nonstop_Mutation SNP A A G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr16:67969351A>G ENST00000573493.1 - 2 90 c.91T>C c.(91-93)Tag>Cag p.*31Q PSMB10_ENST00000358514.4_Missense_Mutation_p.L177P CCGGTCTTCTAGCACCGCCAG 0.647000 12 37 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85405871 85405871 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr15:85405871G>A ENST00000258888.5 + 10 4908 c.4741G>A c.(4741-4743)Gaa>Aaa p.E1581K NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1581 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) TTCAGTTGGAGAAGAGATTGA 0.572000 16 30 0 0 1 0 0 DENND6B 414918 broad.mit.edu 37 22 50752701 50752701 + Splice_Site SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr22:50752701C>G ENST00000413817.2 - 13 1144 c.1072_splice c.e13-1 p.G358_splice NM_001001794.3 NP_001001794.3 DENN/MADD domain containing 6B AGGCAGGTCTCCTACGAGACA 0.637000 3 22 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44673612 44673612 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr20:44673612G>A ENST00000454036.1 + 12 1547 c.1471G>A c.(1471-1473)Gaa>Aaa p.E491K SLC12A5_ENST00000243964.3_Missense_Mutation_p.E468K|SLC12A5_ENST00000539566.1_Intron NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 491 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CAGGTTTGGCGAAGCTGTGAA 0.567000 23 94 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88945294 88945294 + Silent SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr14:88945294C>T ENST00000556564.1 - 13 2765 c.2481G>A c.(2479-2481)aaG>aaA p.K827K PTPN21_ENST00000328736.3_Silent_p.K827K NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 827 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CCACGATGTTCTTCTTCCCAG 0.647000 35 51 0 0 1 0 0 ANGEL2 90806 broad.mit.edu 37 1 213186481 213186481 + Missense_Mutation SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr1:213186481C>G ENST00000366962.3 - 2 493 c.339G>C c.(337-339)atG>atC p.M113I ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000535388.1_Intron NM_144567.3 NP_653168.2 Q5VTE6 ANGE2_HUMAN angel homolog 2 (Drosophila) 113 central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) CCTCAGCGTTCATGACGTAAC 0.408000 17 73 0 0 1 0 0 ZNF227 7770 broad.mit.edu 37 19 44738977 44738977 + Nonsense_Mutation SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr19:44738977C>T ENST00000313040.7 + 6 599 c.394C>T c.(394-396)Cag>Tag p.Q132* ZNF227_ENST00000589707.1_3'UTR|ZNF227_ENST00000391961.2_Nonsense_Mutation_p.Q81*|ZNF227_ENST00000586228.1_3'UTR|ZNF227_ENST00000589005.1_Nonsense_Mutation_p.Q81* NM_182490.1 NP_872296.1 Q86WZ6 ZN227_HUMAN zinc finger protein 227 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1) 24 Prostate(69;0.0435) CAGGTGTCTTCAGGGGAAGAG 0.373000 21 46 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209799093 209799093 + Missense_Mutation SNP C C A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr1:209799093C>A ENST00000391911.1 - 13 2265 c.1876G>T c.(1876-1878)Gat>Tat p.D626Y LAMB3_ENST00000356082.4_Missense_Mutation_p.D626Y|LAMB3_ENST00000367030.3_Missense_Mutation_p.D626Y NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 626 Domain II. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CTCTTTGCATCTAGGATCCGG 0.642000 5 109 0.184627 0.184627 1 1 0 PKD1 5310 broad.mit.edu 37 16 2164258 2164258 + Silent SNP G G C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr16:2164258G>C ENST00000262304.4 - 11 2974 c.2766C>G c.(2764-2766)ctC>ctG p.L922L PKD1_ENST00000423118.1_Silent_p.L922L NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 922 PKD 3. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CCCGCAGGCTGAGGTTGGCCC 0.672000 7 18 0 0 1 0 0 CNNM1 26507 broad.mit.edu 37 10 101117299 101117299 + Missense_Mutation SNP T T A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr10:101117299T>A ENST00000356713.4 + 2 1893 c.1604T>A c.(1603-1605)gTg>gAg p.V535E CNNM1_ENST00000370534.4_Missense_Mutation_p.V170E|CNNM1_ENST00000370528.3_Missense_Mutation_p.V464E|CNNM1_ENST00000446890.1_Missense_Mutation_p.V464E NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 535 CBS 2. ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) GTCCAGCGGGTGAATAATGAG 0.433000 6 13 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105001535 105001535 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr8:105001535G>A ENST00000507740.1 + 14 2542 c.2306G>A c.(2305-2307)cGg>cAg p.R769Q RIMS2_ENST00000406091.3_Missense_Mutation_p.R977Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R816Q|RIMS2_ENST00000436393.2_Missense_Mutation_p.R755Q NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1039 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGTTTTAGTCGGAATGTGGAA 0.383000 HNSCC(12;0.0054) 18 84 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78343325 78343325 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr17:78343325G>A ENST00000582970.1 + 45 12322 c.12179G>A c.(12178-12180)cGc>cAc p.R4060H RNF213_ENST00000336301.6_Missense_Mutation_p.R2133H|RNF213_ENST00000508628.2_Missense_Mutation_p.R4109H|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AAGCATGCCCGCTTCCGGCAG 0.498000 4 102 0 0 1 0 0 HID1 283987 broad.mit.edu 37 17 72951930 72951930 + Silent SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr17:72951930G>A ENST00000425042.2 - 13 1670 c.1593C>T c.(1591-1593)ttC>ttT p.F531F NM_030630.2 NP_085133.1 HID1 domain containing CCTCCAGGAGGAAGAAGACCA 0.587000 27 34 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89350644 89350644 + Nonsense_Mutation SNP G G C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr16:89350644G>C ENST00000301030.4 - 9 2766 c.2306C>G c.(2305-2307)tCa>tGa p.S769* ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.S769* NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 769 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CCGGTCTTTTGATTTCTTCTT 0.348000 6 30 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75051479 75051479 + Missense_Mutation SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr10:75051479C>T ENST00000310715.3 - 19 2269 c.2149G>A c.(2149-2151)Gag>Aag p.E717K TTC18_ENST00000355577.3_Missense_Mutation_p.E186K|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.E717K|TTC18_ENST00000394865.1_Missense_Mutation_p.E717K NM_145170.3 NP_660153.3 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 717 binding p.E717K(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) TCATAGTTCTCCAACAGGACA 0.408000 4 20 0 0 1 0 0 ABO 28 broad.mit.edu 37 9 136132863 136132863 + RNA SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr9:136132863C>T ENST00000453660.2 - 0 317 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) TTGAGGATGTCGATGTTGAAT 0.552000 3 45 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82333859 82333859 + Silent SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr9:82333859G>A ENST00000376520.4 + 16 2487 c.1659G>A c.(1657-1659)aaG>aaA p.K553K TLE4_ENST00000376544.3_Silent_p.K452K|TLE4_ENST00000376534.4_Silent_p.K158K|TLE4_ENST00000265284.6_Silent_p.K496K|TLE4_ENST00000376552.2_Silent_p.K521K|TLE4_ENST00000376537.4_Silent_p.K553K O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CAGGCAATAAGAGTCCTGTCT 0.542000 9 55 0 0 1 0 0 DERL1 79139 broad.mit.edu 37 8 124042859 124042859 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr8:124042859G>A ENST00000259512.4 - 2 551 c.251C>T c.(250-252)aCg>aTg p.T84M DERL1_ENST00000419562.2_Intron|DERL1_ENST00000405944.3_Missense_Mutation_p.T84M|RP11-557C18.3_ENST00000521258.1_RNA NM_001134671.1|NM_024295.4 NP_001128143.1|NP_077271.1 Q9BUN8 DERL1_HUMAN derlin 1 84 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane MHC class I protein binding|receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 8 Lung NSC(37;1.06e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TTCAAGTCGCGTAGAATACTG 0.373000 7 49 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117121842 117121842 + Missense_Mutation SNP G G T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr6:117121842G>T ENST00000310357.3 - 4 1474 c.1453C>A c.(1453-1455)Cac>Aac p.H485N GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.H310N NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 485 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ACAGTCATGTGTCCATTGATC 0.383000 15 45 3.27435e-08 3.58995e-08 1 1 0 TP63 8626 broad.mit.edu 37 3 189612152 189612152 + Missense_Mutation SNP G G T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr3:189612152G>T ENST00000264731.3 + 14 1993 c.1904G>T c.(1903-1905)gGt>gTt p.G635V TP63_ENST00000449992.1_Missense_Mutation_p.G456V|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000354600.5_Missense_Mutation_p.G541V|TP63_ENST00000440651.2_Missense_Mutation_p.G631V|TP63_ENST00000456148.1_Missense_Mutation_p.G537V|TP63_ENST00000382063.4_Missense_Mutation_p.G550V NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 635 Transactivation inhibition. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GAGACCCGGGGTGAGCGTGTT 0.577000 HNSCC(45;0.13) 15 94 1.5739e-10 1.74664e-10 1 1 0 DNMBP 23268 broad.mit.edu 37 10 101639864 101639864 + Missense_Mutation SNP G G C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr10:101639864G>C ENST00000342239.3 - 16 4415 c.4324C>G c.(4324-4326)Ctc>Gtc p.L1442V DNMBP_ENST00000540316.1_Missense_Mutation_p.L354V|DNMBP_ENST00000543621.1_Missense_Mutation_p.L664V|DNMBP_ENST00000324109.4_Missense_Mutation_p.L1418V Q6XZF7 DNMBP_HUMAN dynamin binding protein 1418 Ser-rich. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GATGCACTGAGAGTTCCTTGG 0.537000 16 78 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93641137 93641137 + Silent SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr9:93641137C>T ENST00000375754.4 + 11 1631 c.1483C>T c.(1483-1485)Ctg>Ttg p.L495L SYK_ENST00000375746.1_Silent_p.L495L|SYK_ENST00000375747.1_Silent_p.L472L|SYK_ENST00000375751.4_Silent_p.L472L NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 495 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 GCACAGAGATCTGGCTGCAAG 0.433000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 16 64 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46925146 46925146 + Silent SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr21:46925146C>T ENST00000359759.4 + 34 4233 c.4212C>T c.(4210-4212)ccC>ccT p.P1404P COL18A1_ENST00000400337.2_Silent_p.P989P|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_Silent_p.P1169P P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1404 Triple-helical region 9 (COL9). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CTCCCGGCCCCCCAGGCCCCC 0.731000 3 6 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81971422 81971422 + Silent SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr16:81971422C>T ENST00000359376.3 + 28 3326 c.3112C>T c.(3112-3114)Ctg>Ttg p.L1038L NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 1038 PI-PLC Y-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GGGCTACGTTCTGCAGCCTGA 0.522000 23 21 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10544406 10544406 + Missense_Mutation SNP G G C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr17:10544406G>C ENST00000583535.1 - 19 2248 c.2161C>G c.(2161-2163)Caa>Gaa p.Q721E MYH3_ENST00000226209.7_Missense_Mutation_p.Q721E NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 721 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 ACACACCTTTGTTTAAAATCG 0.453000 13 90 0 0 1 0 0 IGHV1OR16-4 28312 broad.mit.edu 37 16 33013841 33013841 + RNA SNP C C A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr16:33013841C>A ENST00000567619.1 - 0 499 AAGCCTGGGGCCTCAGTGAAG 0.602000 6 27 0.0215528 0.0217922 1 1 0 DENND1A 57706 broad.mit.edu 37 9 126319866 126319866 + Missense_Mutation SNP C C A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr9:126319866C>A ENST00000373624.2 - 13 1177 c.976G>T c.(976-978)Gct>Tct p.A326S DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.A294S|DENND1A_ENST00000394215.2_Missense_Mutation_p.A296S|DENND1A_ENST00000373620.3_Missense_Mutation_p.A326S|DENND1A_ENST00000373618.1_Missense_Mutation_p.A294S|DENND1A_ENST00000542603.1_Intron NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 326 dDENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 ATTTTCAGAGCGTTTCGGTAG 0.547000 11 20 4.68919e-08 5.11037e-08 1 1 0 RIMS2 9699 broad.mit.edu 37 8 104928744 104928744 + Missense_Mutation SNP T T C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr8:104928744T>C ENST00000507740.1 + 6 1675 c.1439T>C c.(1438-1440)cTt>cCt p.L480P RIMS2_ENST00000406091.3_Missense_Mutation_p.L672P|RIMS2_ENST00000262231.10_Missense_Mutation_p.L527P|RIMS2_ENST00000436393.2_Missense_Mutation_p.L450P NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 750 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CAAGTAGAACTTGTAGTTTCA 0.348000 HNSCC(12;0.0054) 40 19 0 0 1 0 0 TIAL1 7073 broad.mit.edu 37 10 121339445 121339445 + Splice_Site SNP A A T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr10:121339445A>T ENST00000369092.4 - 7 1387 c.e7+1 TIAL1_ENST00000369093.2_Splice_Site|TIAL1_ENST00000436547.2_Splice_Site Q01085 TIAR_HUMAN TIA1 cytotoxic granule-associated RNA binding protein-like 1 apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter lysosome|nucleus|stress granule nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1) 13 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932) GGAAGAACGTACCAGTTTGTT 0.313000 4 6 0 0 1 0 0 PACRG 135138 broad.mit.edu 37 6 163510334 163510334 + Silent SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr6:163510334C>G ENST00000337019.3 + 5 731 c.507C>G c.(505-507)ctC>ctG p.L169L PACRG_ENST00000366889.2_Silent_p.L169L|PACRG_ENST00000366888.2_Silent_p.L169L NM_152410.2 NP_689623.2 Q96M98 PACRG_HUMAN PARK2 co-regulated 169 endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) GTGTCACTCTCAAGGTCCTCC 0.448000 12 26 0 0 1 0 0 GBP6 163351 broad.mit.edu 37 1 89834114 89834114 + Nonsense_Mutation SNP G G T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr1:89834114G>T ENST00000370456.4 + 2 97 c.4G>T c.(4-6)Gaa>Taa p.E2* GBP6_ENST00000535065.1_Intron NM_198460.2 NP_940862.2 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 2 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) AGTTGCCATGGAATCTGGACC 0.443000 15 29 3.45872e-05 3.63865e-05 1 1 0 NOX3 50508 broad.mit.edu 37 6 155743937 155743937 + Missense_Mutation SNP G G C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr6:155743937G>C ENST00000159060.2 - 10 1301 c.1199C>G c.(1198-1200)cCa>cGa p.P400R NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 400 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CACACACACTGGGTAGTGAAA 0.527000 30 44 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25302066 25302066 + RNA SNP G G C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr15:25302066G>C ENST00000549804.2 + 0 98 SNORD116-3_ENST00000384287.1_RNA AAATGAGTGAGAACTCATACC 0.507000 13 45 0 0 1 0 0 YY1 7528 broad.mit.edu 37 14 100706146 100706146 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr14:100706146G>A ENST00000262238.4 + 1 825 c.565G>A c.(565-567)Ggg>Agg p.G189R NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 189 cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) cctcagcggcggggccggcgc 0.721000 5 12 0 0 1 0 0 LIMK1 3984 broad.mit.edu 37 7 73521402 73521402 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr7:73521402G>A ENST00000418310.1 + 8 1136 c.1034G>A c.(1033-1035)cGc>cAc p.R345H LIMK1_ENST00000538333.3_Missense_Mutation_p.R281H|LIMK1_ENST00000336180.2_Missense_Mutation_p.R315H P53667 LIMK1_HUMAN LIM domain kinase 1 315 Protein kinase. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) GCCTCCCAGCGCAAGGACCTG 0.706000 11 15 0 0 1 0 0 MTNR1B 4544 broad.mit.edu 37 11 92714995 92714995 + Silent SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr11:92714995G>A ENST00000257068.2 + 2 612 c.606G>A c.(604-606)gcG>gcA p.A202A NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 202 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) AGTACACGGCGGCAGTGGTGG 0.607000 21 7 0 0 1 0 0 SNX30 401548 broad.mit.edu 37 9 115598539 115598539 + Missense_Mutation SNP A A G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr9:115598539A>G ENST00000374232.3 + 5 828 c.664A>G c.(664-666)Atg>Gtg p.M222V NM_001012994.1 NP_001013012.1 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 222 cell communication|protein transport cytoplasm phosphatidylinositol binding large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GCTGACCAGAATGGGCGAGTC 0.507000 100 20 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46911618 46911618 + Missense_Mutation SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr11:46911618C>T ENST00000378623.1 - 15 2211 c.1969G>A c.(1969-1971)Gac>Aac p.D657N NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 657 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GTGTGCCAGTCTGTCCAGTAC 0.517000 OREG0020948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 89 0 0 1 0 0 SEC24A 10802 broad.mit.edu 37 5 134044567 134044567 + Missense_Mutation SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr5:134044567C>G ENST00000398844.2 + 18 3004 c.2716C>G c.(2716-2718)Ctc>Gtc p.L906V NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 906 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGTGTTGGCTCTCCTTAAACA 0.468000 16 2 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2523433 2523433 + Missense_Mutation SNP C C A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr1:2523433C>A ENST00000288709.6 - 22 2314 c.2074G>T c.(2074-2076)Gac>Tac p.D692Y MMEL1_ENST00000378412.3_Missense_Mutation_p.D701Y|MMEL1_ENST00000502556.1_Missense_Mutation_p.D544Y NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 701 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) AGCTGCTGGTCCTTGCCACCC 0.617000 31 11 4.4194e-11 4.96501e-11 1 1 0 TTN 7273 broad.mit.edu 37 2 179484357 179484357 + Missense_Mutation SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr2:179484357C>G ENST00000589042.1 - 250 46911 c.46687G>C c.(46687-46689)Gaa>Caa p.E15563Q TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E6498Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6690Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12995Q|TTN_ENST00000359218.5_Missense_Mutation_p.E6623Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E13922Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13922 Fibronectin type-III 13. 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) CCTGCCAGTTCAAGCTTAGCT 0.383000 12 51 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113439477 113439477 + Missense_Mutation SNP G G T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr13:113439477G>T ENST00000487903.1 + 2 156 c.68G>T c.(67-69)aGc>aTc p.S23I ATP11A_ENST00000283558.8_Missense_Mutation_p.S23I|ATP11A_ENST00000375645.3_Missense_Mutation_p.S23I|ATP11A_ENST00000375630.2_Missense_Mutation_p.S23I P98196 AT11A_HUMAN ATPase, class VI, type 11A 23 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TGGGTGGACAGCAGGACCATC 0.572000 OREG0003855 type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 47 37 4.44401e-20 5.11905e-20 1 1 0 MICALCL 84953 broad.mit.edu 37 11 12379876 12379876 + Silent SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr11:12379876G>A ENST00000256186.2 + 9 2229 c.1938G>A c.(1936-1938)gaG>gaA p.E646E NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 646 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) TAAACGAAGAGCAAGAAGTAT 0.473000 34 72 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54228471 54228471 + Missense_Mutation SNP G G T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chrX:54228471G>T ENST00000354646.2 - 23 5464 c.5026C>A c.(5026-5028)Caa>Aaa p.Q1676K WNK3_ENST00000375169.3_Missense_Mutation_p.Q1619K|WNK3_ENST00000375159.2_Missense_Mutation_p.Q1676K NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1619 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 TGTTGACTTTGTTTAAGTTGG 0.338000 6 13 5.18039e-06 5.48158e-06 1 1 0 CHD4 1108 broad.mit.edu 37 12 6691342 6691342 + Silent SNP G G C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr12:6691342G>C ENST00000309577.6 - 29 4723 c.4560C>G c.(4558-4560)gtC>gtG p.V1520V CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Silent_p.V1517V|CHD4_ENST00000357008.2_Silent_p.V1492V|CHD4_ENST00000544040.1_Silent_p.V1485V Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1492 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TTCTAGTAAGGACATGCTGGC 0.542000 8 55 0 0 1 0 0 ZNF510 22869 broad.mit.edu 37 9 99521412 99521412 + Missense_Mutation SNP G G A rs141866339 by1000genomes TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr9:99521412G>A ENST00000375231.1 - 6 2350 c.1700C>T c.(1699-1701)aCg>aTg p.T567M ZNF510_ENST00000223428.4_Missense_Mutation_p.T567M Q9Y2H8 ZN510_HUMAN zinc finger protein 510 567 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) TTTCTCTCCCGTGTGAGTTTT 0.418000 33 42 0 0 1 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065675 55065675 + RNA SNP T T A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr11:55065675T>A ENST00000526016.1 - 0 33 NR_038174.2 GGTGACTGGGTCTAGGAAGTA 0.483000 9 39 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242078139 242078139 + Missense_Mutation SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr2:242078139C>T ENST00000403638.3 - 5 762 c.671G>A c.(670-672)cGc>cAc p.R224H PASK_ENST00000405260.1_Missense_Mutation_p.R224H|PASK_ENST00000544142.1_Missense_Mutation_p.R38H|PASK_ENST00000358649.4_Missense_Mutation_p.R224H|PASK_ENST00000539818.1_Missense_Mutation_p.R8H|PASK_ENST00000234040.4_Missense_Mutation_p.R224H NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 224 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GCATAGGCGGCGCTCCTGCCG 0.572000 27 17 0 0 1 0 0 TERC 7012 broad.mit.edu 37 3 169482828 169482828 + RNA SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr3:169482828C>G ENST00000602385.1 - 0 20 NR_001566.1 CCACCCCTCCCAGGCCCACCC 0.642000 Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 4 22 0 0 1 0 0 PGBD2 267002 broad.mit.edu 37 1 249210815 249210815 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr1:249210815G>A ENST00000539153.1 + 4 278 c.23G>A c.(22-24)gGg>gAg p.G8E PGBD2_ENST00000329291.5_Missense_Mutation_p.G11E|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 11 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GTCATTGCTGGGAGAGGTATC 0.463000 12 17 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr17:7578403C>T ENST00000420246.2 - 5 659 c.527G>A c.(526-528)tGc>tAc p.C176Y TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 176 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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) ATGGTGGGGGCAGCGCCTCAC 0.652000 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) 22 40 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 5 80 0 0 1 0 0 HOXB7 3217 broad.mit.edu 37 17 46685394 46685394 + Missense_Mutation SNP T T C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr17:46685394T>C ENST00000239165.7 - 2 562 c.464A>G c.(463-465)gAa>gGa p.E155G HOXB7_ENST00000567101.1_5'UTR NM_004502.3 NP_004493.3 P09629 HXB7_HUMAN homeobox B7 155 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 8 GTAGTGAAATTCTTTCTCCAG 0.547000 42 54 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74327069 74327069 + Missense_Mutation SNP C C A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr9:74327069C>A ENST00000377044.4 - 16 3238 c.2699G>T c.(2698-2700)gGc>gTc p.G900V TMEM2_ENST00000377066.5_Missense_Mutation_p.G837V NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 900 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) CATGAGGAAGCCAATTGCACT 0.428000 54 9 7.77372e-23 9.06934e-23 1 1 0 ASPA 443 broad.mit.edu 37 17 3392579 3392579 + Missense_Mutation SNP G G T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr17:3392579G>T ENST00000263080.2 + 4 735 c.577G>T c.(577-579)Gat>Tat p.D193Y SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.D193Y NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 193 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) TGATATCTTGGATCAAATGAG 0.328000 11 44 0.010729 0.0109701 1 1 0 SPG11 80208 broad.mit.edu 37 15 44887540 44887540 + Missense_Mutation SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr15:44887540C>T ENST00000261866.7 - 26 4568 c.4552G>A c.(4552-4554)Gag>Aag p.E1518K SPG11_ENST00000558319.1_Missense_Mutation_p.E1518K|SPG11_ENST00000427534.2_Missense_Mutation_p.E1518K|SPG11_ENST00000535302.2_Missense_Mutation_p.E1518K NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1518 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GAAAGATCCTCAAGGTTCCAG 0.418000 28 25 0 0 1 0 0 KIAA0196 9897 broad.mit.edu 37 8 126062854 126062854 + Silent SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr8:126062854G>A ENST00000318410.7 - 18 2500 c.2151C>T c.(2149-2151)cgC>cgT p.R717R KIAA0196_ENST00000517845.1_Silent_p.R569R NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 717 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CAAAGGCAACGCGCTTCACAA 0.483000 10 58 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81762520 81762520 + Missense_Mutation SNP G G C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr12:81762520G>C ENST00000550584.2 - 12 1761 c.1466C>G c.(1465-1467)gCt>gGt p.A489G PPFIA2_ENST00000552948.1_Missense_Mutation_p.A489G|PPFIA2_ENST00000407050.4_Missense_Mutation_p.A415G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.A56G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A471G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.A336G|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000549396.1_Missense_Mutation_p.A489G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A390G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A471G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A489G|PPFIA2_ENST00000545296.2_Intron NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 415 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 TTCTAGAGCAGCCATTCTTTC 0.353000 12 70 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78562566 78562566 + Missense_Mutation SNP T T C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr12:78562566T>C ENST00000397909.2 + 24 5074 c.4901T>C c.(4900-4902)aTt>aCt p.I1634T NAV3_ENST00000536525.2_Missense_Mutation_p.I1634T|NAV3_ENST00000228327.6_Missense_Mutation_p.I1634T|NAV3_ENST00000266692.7_Missense_Mutation_p.I1457T Q8IVL0 NAV3_HUMAN neuron navigator 3 1634 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AGAGAAACCATTGAAATGCTG 0.413000 HNSCC(70;0.22) 7 41 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr3:126707544T>G ENST00000393409.2 + 1 108 c.108T>G c.(106-108)ggT>ggG p.G36G PLXNA1_ENST00000251772.4_Silent_p.G13G NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 36 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G13G(4) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.682000 5 20 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56721836 56721836 + Silent SNP T T A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr12:56721836T>A ENST00000425394.2 - 5 970 c.594A>T c.(592-594)ggA>ggT p.G198G PAN2_ENST00000440411.3_Silent_p.G198G|PAN2_ENST00000257931.5_Silent_p.G198G|PAN2_ENST00000548043.1_Silent_p.G198G NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 198 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TGATGGTGACTCCAGGCGTCT 0.517000 12 19 0 0 1 0 0 KLHDC8B 200942 broad.mit.edu 37 3 49210467 49210467 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr3:49210467G>A ENST00000332780.2 + 2 474 c.265G>A c.(265-267)Gag>Aag p.E89K KLHDC8B_ENST00000476495.2_3'UTR NM_173546.2 NP_775817.1 Q8IXV7 KLD8B_HUMAN kelch domain containing 8B 89 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGGTGTGGATGAGGTCCAGAG 0.662000 13 2 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101715433 101715433 + Missense_Mutation SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr10:101715433C>G ENST00000342239.3 - 4 1889 c.1798G>C c.(1798-1800)Gag>Cag p.E600Q DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.E600Q Q6XZF7 DNMBP_HUMAN dynamin binding protein 600 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) TCCGGCAGCTCCTGCTCGGTG 0.502000 9 36 0 0 1 0 0 CCHCR1 54535 broad.mit.edu 37 6 31122387 31122387 + Silent SNP T T A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr6:31122387T>A ENST00000396268.3 - 4 875 c.687A>T c.(685-687)cgA>cgT p.R229R CCHCR1_ENST00000396263.2_Silent_p.R140R|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Silent_p.R140R|CCHCR1_ENST00000451521.2_Silent_p.R193R NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 140 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 CAGCCTCAGCTCGGCCGGCCT 0.662000 179 60 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70351035 70351035 + Missense_Mutation SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr4:70351035C>G ENST00000305107.6 - 5 1247 c.1201G>C c.(1201-1203)Gat>Cat p.D401H UGT2B4_ENST00000381096.3_Missense_Mutation_p.D265H|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 401 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 GCAATGTTATCAGGTTGATCT 0.443000 30 54 0 0 1 0 0 ZNF592 9640 broad.mit.edu 37 15 85326988 85326988 + Missense_Mutation SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr15:85326988C>T ENST00000299927.3 + 1 1104 c.1082C>T c.(1081-1083)tCa>tTa p.S361L ZNF592_ENST00000560079.2_Missense_Mutation_p.S361L Q92610 ZN592_HUMAN zinc finger protein 592 361 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGCAAAGGCTCACCGTCTGTG 0.527000 18 40 0 0 1 0 0 RASSF4 83937 broad.mit.edu 37 10 45479530 45479530 + Silent SNP G G T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr10:45479530G>T ENST00000334940.6 + 5 503 c.369G>T c.(367-369)gtG>gtT p.V123V RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000340258.4_Silent_p.V114V|RASSF4_ENST00000374417.2_Intron Q9H2L5 RASF4_HUMAN Ras association (RalGDS/AF-6) domain family member 4 114 cell cycle|signal transduction protein binding NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 TTCAGCCAGTGCACAAGGCTG 0.622000 4 5 0.0215528 0.0217922 1 1 0 ZNF43 7594 broad.mit.edu 37 19 21991574 21991574 + Missense_Mutation SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr19:21991574C>G ENST00000594012.1 - 7 1761 c.1247G>C c.(1246-1248)gGa>gCa p.G416A ZNF43_ENST00000354959.4_Missense_Mutation_p.G422A|ZNF43_ENST00000595461.1_Missense_Mutation_p.G416A|ZNF43_ENST00000598381.1_Missense_Mutation_p.G416A NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) GGGTTTCTCTCCAGTATGAGT 0.373000 7 44 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84531703 84531703 + RNA SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr9:84531703C>G ENST00000527857.1 + 0 1725 NR_026851.1 TACCCAACCTCTACCCTCGCC 0.507000 4 22 0 0 1 0 0 KCNQ4 9132 broad.mit.edu 37 1 41303381 41303381 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr1:41303381G>A ENST00000347132.5 + 13 1872 c.1790G>A c.(1789-1791)cGg>cAg p.R597Q KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.R543Q NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 597 A-domain (Tetramerization). sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) AGGAAGGCCCGGGAGAAGGGC 0.642000 8 9 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117773475 117773475 + Missense_Mutation SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chrX:117773475C>T ENST00000276204.6 + 38 4153 c.4079C>T c.(4078-4080)tCa>tTa p.S1360L DOCK11_ENST00000276202.7_Missense_Mutation_p.S1360L Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1360 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CGAAACAGATCAGGAGTAATG 0.428000 13 15 0 0 1 0 0 GLP2R 9340 broad.mit.edu 37 17 9774114 9774114 + Silent SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr17:9774114C>G ENST00000262441.5 + 10 1620 c.1107C>G c.(1105-1107)ctC>ctG p.L369L GLP2R_ENST00000574745.1_Silent_p.L189L NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 369 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) TTTCTAAGCTCAAAGCTCATC 0.398000 39 74 0 0 1 0 0 HNRNPKP3 399881 broad.mit.edu 37 11 43284107 43284107 + RNA SNP G G C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr11:43284107G>C ENST00000511537.1 - 0 828 NR_033868.1 AGTGGAGAAAGAGGAAGATTC 0.493000 2 6 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129794994 129794994 + Missense_Mutation SNP C C A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr11:129794994C>A ENST00000358825.5 - 13 1904 c.1673G>T c.(1672-1674)tGc>tTc p.C558F PRDM10_ENST00000528746.1_Missense_Mutation_p.C528F|PRDM10_ENST00000423662.2_Missense_Mutation_p.C472F|PRDM10_ENST00000304538.6_Missense_Mutation_p.C468F|PRDM10_ENST00000360871.3_Missense_Mutation_p.C554F|PRDM10_ENST00000526082.1_Missense_Mutation_p.C472F NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 558 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GGTCAGTGGGCAGTTCCCCTC 0.527000 40 25 3.09479e-21 3.58759e-21 1 1 0 ZNF804A 91752 broad.mit.edu 37 2 185802803 185802803 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr2:185802803G>A ENST00000302277.6 + 4 3274 c.2680G>A c.(2680-2682)Gaa>Aaa p.E894K NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 894 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AACCAATGGTGAAACTGAGCA 0.403000 10 51 0 0 1 0 0 EIF3H 8667 broad.mit.edu 37 8 117668121 117668121 + Silent SNP T T C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr8:117668121T>C ENST00000521861.1 - 5 704 c.681A>G c.(679-681)aaA>aaG p.K227K EIF3H_ENST00000276682.4_Silent_p.K241K NM_003756.2 NP_003747.1 O15372 EIF3H_HUMAN eukaryotic translation initiation factor 3, subunit H 227 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity large_intestine(2)|lung(10)|skin(1) 13 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) GCAATTCATGTTTATCTGCAA 0.378000 29 78 0 0 1 0 0 CATSPER2 117155 broad.mit.edu 37 15 43939313 43939313 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr15:43939313G>A ENST00000396879.1 - 5 435 c.323C>T c.(322-324)cCt>cTt p.P108L CATSPER2_ENST00000321596.5_Missense_Mutation_p.P108L|CATSPER2_ENST00000355438.2_Missense_Mutation_p.P108L|CATSPER2_ENST00000381761.1_Missense_Mutation_p.P114L|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Missense_Mutation_p.P108L Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 108 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TTTGAAGAGAGGACCTGTTGT 0.368000 29 25 0 0 1 0 0 FAM21C 253725 broad.mit.edu 37 10 46222872 46222872 + Missense_Mutation SNP G G C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr10:46222872G>C ENST00000336378.4 + 2 129 c.11G>C c.(10-12)cGg>cCg p.R4P FAM21C_ENST00000537517.1_Missense_Mutation_p.R4P|FAM21C_ENST00000374362.2_Missense_Mutation_p.R4P|FAM21C_ENST00000540872.1_Missense_Mutation_p.R4P|FAM21C_ENST00000359860.4_Missense_Mutation_p.R3P NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 4 central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 CAGATGAACCGGACGACCCCC 0.721000 3 13 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35705828 35705828 + Silent SNP C C A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr5:35705828C>A ENST00000440995.2 + 18 2568 c.2568C>A c.(2566-2568)atC>atA p.I856I CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.I861I|SPEF2_ENST00000509059.1_Silent_p.I856I Q9C093 SPEF2_HUMAN sperm flagellar 2 861 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGATAAAAATCAATGCTGAAA 0.274000 3 23 0.004672 0.00480398 1 1 0 HLTF 6596 broad.mit.edu 37 3 148791054 148791054 + Silent SNP A A G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr3:148791054A>G ENST00000310053.5 - 5 778 c.585T>C c.(583-585)taT>taC p.Y195Y HLTF_ENST00000494055.1_Silent_p.Y195Y|HLTF_ENST00000465259.1_Silent_p.Y195Y|HLTF_ENST00000392912.2_Silent_p.Y195Y NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 195 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) CTGGCATACTATAGCTTGGTC 0.353000 36 14 0 0 1 0 0 ALAD 210 broad.mit.edu 37 9 116150610 116150610 + Silent SNP C C T rs35581515 TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr9:116150610C>T ENST00000409155.3 - 12 1159 c.963G>A c.(961-963)ccG>ccA p.P321P ALAD_ENST00000277315.5_Silent_p.P304P NM_000031.5 NP_000022.3 P13716 HEM2_HUMAN aminolevulinate dehydratase 321 heme biosynthetic process|protein homooligomerization cytosol identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1) 9 Aminolevulinic acid(DB00855) GCAGCAGCTGCGGTGTGTAGT 0.532000 4 115 0 0 1 0 0 PCCB 5096 broad.mit.edu 37 3 135974807 135974807 + Missense_Mutation SNP A A T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr3:135974807A>T ENST00000471595.1 + 2 311 c.293A>T c.(292-294)gAt>gTt p.D98V PCCB_ENST00000468777.1_Missense_Mutation_p.D98V|PCCB_ENST00000474833.1_Intron|PCCB_ENST00000466072.1_Missense_Mutation_p.D98V|PCCB_ENST00000478469.1_Missense_Mutation_p.D98V|PCCB_ENST00000462637.1_Missense_Mutation_p.D98V|PCCB_ENST00000469217.1_Missense_Mutation_p.D98V|PCCB_ENST00000490504.1_Missense_Mutation_p.D98V|PCCB_ENST00000251654.4_Missense_Mutation_p.D98V|PCCB_ENST00000482086.1_Intron|PCCB_ENST00000483687.1_Missense_Mutation_p.D98V P05166 PCCB_HUMAN propionyl CoA carboxylase, beta polypeptide 98 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 25 Biotin(DB00121)|L-Valine(DB00161) ATGGCTGCTGATAAGAATAAG 0.433000 11 55 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 14118 14118 + Silent SNP A A C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chrM:14118A>C ENST00000361567.2 + 1 1782 c.1782A>C c.(1780-1782)ccA>ccC p.P594P P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 594 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) TTCTTCTTCCCACTCATCCTA 0.388000 2 0 0 0 1 0 0 ADAM9 8754 broad.mit.edu 37 8 38880809 38880809 + Missense_Mutation SNP C C G TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr8:38880809C>G ENST00000487273.2 + 9 957 c.879C>G c.(877-879)atC>atG p.I293M NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 293 Peptidase M12B. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) AGTTTCTTATCACACGTCGGA 0.383000 7 33 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59852094 59852094 + Missense_Mutation SNP C C A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr8:59852094C>A ENST00000361421.1 - 3 398 c.178G>T c.(178-180)Ggt>Tgt p.G60C NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 60 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) AGGCTTGGACCAGGGTAGGAC 0.423000 13 26 7.93312e-07 8.54336e-07 1 1 0 COL6A1 1291 broad.mit.edu 37 21 47423706 47423706 + Missense_Mutation SNP G G C rs149534094 byFrequency TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr21:47423706G>C ENST00000361866.3 + 35 2980 c.2866G>C c.(2866-2868)Gag>Cag p.E956Q COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 956 C-terminal globular domain.|VWFA 3. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) CGCTGCCATCGAGAAGGCCGT 0.672000 8 73 0 0 1 0 0 PEX14 5195 broad.mit.edu 37 1 10690033 10690033 + Missense_Mutation SNP G G C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr1:10690033G>C ENST00000356607.4 + 9 1203 c.1123G>C c.(1123-1125)Gag>Cag p.E375Q PEX14_ENST00000538836.1_Missense_Mutation_p.E311Q NM_004565.2 NP_004556.1 O75381 PEX14_HUMAN peroxisomal biogenesis factor 14 375 negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport integral to membrane|nucleus|peroxisomal membrane|protein complex protein N-terminus binding|transcription corepressor activity breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 13 Ovarian(185;0.203) all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419) CAACGAGAGTGAGCGGGACTA 0.706000 5 19 0 0 1 0 0 RNF133 168433 broad.mit.edu 37 7 122338572 122338572 + Missense_Mutation SNP C C A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr7:122338572C>A ENST00000340112.2 - 1 638 c.401G>T c.(400-402)gGt>gTt p.G134V CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 134 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding p.G134A(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 GTTGCCAGTACCTGGAACGTT 0.428000 19 60 6.94344e-10 7.65883e-10 1 1 0 ACSS3 79611 broad.mit.edu 37 12 81503433 81503433 + Missense_Mutation SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr12:81503433C>T ENST00000548058.1 + 2 1316 c.406C>T c.(406-408)Cct>Tct p.P136S ACSS3_ENST00000261206.3_Missense_Mutation_p.P135S|RP11-543H12.1_ENST00000547123.1_RNA Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 136 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 CTATGACAGTCCTGTTACAAA 0.318000 7 24 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33331187 33331187 + Missense_Mutation SNP C C T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr21:33331187C>T ENST00000270112.2 + 5 1139 c.779C>T c.(778-780)aCg>aTg p.T260M NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 260 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 TTGACCGGGACGCTGCCTTTC 0.542000 20 37 0 0 1 0 0 TMEM14A 28978 broad.mit.edu 37 6 52550825 52550825 + Missense_Mutation SNP G G C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr6:52550825G>C ENST00000211314.4 + 5 431 c.278G>C c.(277-279)aGa>aCa p.R93T NM_014051.3 NP_054770.1 Q9Y6G1 TM14A_HUMAN transmembrane protein 14A 93 integral to membrane endometrium(2)|lung(2) 4 Lung NSC(77;0.118) ATGATCCTGAGACTTGTCTTG 0.408000 43 15 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31848696 31848696 + Missense_Mutation SNP T T C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr7:31848696T>C ENST00000396184.3 - 17 2044 c.1840A>G c.(1840-1842)Aca>Gca p.T614A PDE1C_ENST00000396193.1_Missense_Mutation_p.T674A|PDE1C_ENST00000396182.2_Missense_Mutation_p.T614A|PDE1C_ENST00000321453.7_Missense_Mutation_p.T614A|PDE1C_ENST00000396191.1_Missense_Mutation_p.T614A|PDE1C_ENST00000479980.1_5'UTR NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 614 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TTCTTGTCTGTCTTATTTTTA 0.328000 9 18 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30681830 30681830 + Silent SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr6:30681830G>A ENST00000376406.3 - 3 914 c.267C>T c.(265-267)ctC>ctT p.L89L MDC1_ENST00000376405.2_Silent_p.L89L NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 89 FHA.|Interaction with CHEK2.|Interaction with the MRN complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CACAGTCTCGGAGGATAGGTG 0.517000 Other conserved DNA damage response genes 22 6 0 0 1 0 0 OR5K2 402135 broad.mit.edu 37 3 98217323 98217323 + Missense_Mutation SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr3:98217323G>A ENST00000427338.1 + 1 876 c.799G>A c.(799-801)Gaa>Aaa p.E267K CLDND1_ENST00000502288.1_Intron NM_001004737.1 NP_001004737.1 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, member 2 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E267Q(1) endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TTTGCTTGAAGAAGGAGGTAA 0.328000 32 4 0 0 1 0 0 ADAM32 203102 broad.mit.edu 37 8 39009051 39009051 + Missense_Mutation SNP T T C TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr8:39009051T>C ENST00000379907.4 + 6 636 c.509T>C c.(508-510)aTt>aCt p.I170T ADAM32_ENST00000437682.2_Missense_Mutation_p.I177T|ADAM32_ENST00000519315.1_Missense_Mutation_p.I170T NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 170 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) GATGACAACATTTTTATAAGT 0.254000 9 15 0 0 1 0 0 NOX3 50508 broad.mit.edu 37 6 155743938 155743938 + Missense_Mutation SNP G G T TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr6:155743938G>T ENST00000159060.2 - 10 1300 c.1198C>A c.(1198-1200)Cca>Aca p.P400T NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 400 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) ACACACACTGGGTAGTGAAAT 0.527000 30 44 2.61193e-14 2.97107e-14 1 1 0 RERG 85004 broad.mit.edu 37 12 15262053 15262053 + Silent SNP G G A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr12:15262053G>A ENST00000256953.2 - 5 927 c.591C>T c.(589-591)atC>atT p.I197I RERG_ENST00000536465.1_Silent_p.I197I|RERG_ENST00000546331.1_Silent_p.I178I|RERG_ENST00000538313.1_Silent_p.I197I NM_032918.2 NP_116307.1 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 197 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity p.I197I(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 CCTAACTACTGATTTTGGTGA 0.493000 16 220 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154842199 154842200 + In_Frame_Ins INS - - GCTGCT rs58327065 TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr1:154842199_154842200insGCTGCT ENST00000271915.3 - 1 556_557 c.241_242insAGCAGC c.(241-243)acc>AGCAGCacc p.80_81insSS NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 80 Poly-Gln. integral to membrane calmodulin binding p.Q80_P81insQQ(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGGATGCGGTGgctgctgctgc 0.698 5 6 --- --- --- --- FMN2 56776 broad.mit.edu 37 1 240255569 240255571 + In_Frame_Del DEL GGC GGC - rs71929261 TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr1:240255569_240255571delGGC ENST00000319653.9 + 1 390_392 c.160_162delGGC c.(160-162)del p.G59del NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 59 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.G197delG(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGGGGGAgggggcggcggcggcg 0.665 8 9 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79950724 79950725 + In_Frame_Ins INS - - CCGCAGCGC rs70991168 TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr5:79950724_79950725insCCGCAGCGC ENST00000265081.6 + 1 258_259 c.178_179insCCGCAGCGC c.(178-180)cgc>CCGCAGCGCcgc p.59_60insPQR DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 59 Poly-Ala. Missing. maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ggccgcagcggccgcagcgCCC 0.708 Mismatch excision repair (MMR) 5 1 --- --- --- --- TBP 6908 broad.mit.edu 37 6 170871013 170871014 + In_Frame_Ins INS - - CAG rs72320253 TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr6:170871013_170871014insCAG ENST00000392092.2 + 3 468_469 c.189_190insCAG c.(187-192)caagca>caCAGagca p.63_63Q>HR TBP_ENST00000230354.6_In_Frame_Ins_p.63_63Q>HR|TBP_ENST00000540980.1_In_Frame_Ins_p.43_43Q>HR NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 63 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q63_Q64insQ(1)|p.Q63Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacaacaacagcagcagca 0.550 26 26 --- --- --- --- TNS3 64759 broad.mit.edu 37 7 47384376 47384388 + Frame_Shift_Del DEL GCTGGGCTGCTCA GCTGGGCTGCTCA - TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr7:47384376_47384388delGCTGGGCTGCTCA ENST00000398879.1 - 20 2981_2993 c.2615_2627delTGAGCAGCCCAGC c.(2614-2628)ccfs p.LSSPA872fs TNS3_ENST00000311160.9_Frame_Shift_Del_p.LSSPA872fs|TNS3_ENST00000355730.3_Frame_Shift_Del_p.LSSPA632fs Q68CZ2 TENS3_HUMAN tensin 3 872 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 GTGCTGACTGGCTGGGCTGCTCAGCGGGGGCTC 0.610 9 75 --- --- --- --- SGK223 157285 broad.mit.edu 37 8 8234868 8234869 + In_Frame_Ins INS - - GCCGCT rs59372311 by1000genomes TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr8:8234868_8234869insGCCGCT ENST00000520004.1 - 3 1314_1315 c.1050_1051insAGCGGC c.(1048-1053)ggccag>ggAGCGGCccag p.350_351GQ>GAAQ SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ Q86YV5 SG223_HUMAN 350 ATP binding|non-membrane spanning protein tyrosine kinase activity p.G350_A351insSG(1)|p.G350_S351insSG(1) GGGCTACTGGCGCCGCTGCCGC 0.653 9 7 --- --- --- --- SMARCA2 6595 broad.mit.edu 37 9 2039777 2039779 + In_Frame_Del DEL CAG CAG - rs113070757 byFrequency TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr9:2039777_2039779delCAG ENST00000382203.1 + 4 876_878 c.667_669delCAG c.(667-669)del p.Q238del SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 238 Poly-Gln. Missing (in Ref. 1; CAA51407). chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) gcagcagcaacagcagcagcagc 0.635 10 30 --- --- --- --- SMC5 23137 broad.mit.edu 37 9 72933828 72933829 + Frame_Shift_Ins INS - - A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr9:72933828_72933829insA ENST00000361138.5 + 15 2157_2158 c.2099_2100insA c.(2098-2100)aaafs p.K700fs NM_015110.3 NP_055925.2 Q8IY18 SMC5_HUMAN structural maintenance of chromosomes 5 700 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 CTTCTTGAGAGAAAAACCAAGA 0.406 8 10 --- --- --- --- ZNF365 22891 broad.mit.edu 37 10 64425946 64425946 + Frame_Shift_Del DEL C C - TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr10:64425946delC ENST00000410046.3 + 7 1558 c.1278delC c.(1276-1278)ctfs p.L426fs ZNF365_ENST00000395251.1_Frame_Shift_Del_p.L180fs|ZNF365_ENST00000395249.1_Frame_Shift_Del_p.L32fs NM_199451.2 NP_955523.1 Q70YC4 TALAN_HUMAN zinc finger protein 365 180 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) TAGGACAACTCCAAAATTGTG 0.413 7 22 --- --- --- --- SMC3 9126 broad.mit.edu 37 10 112343699 112343701 + In_Frame_Del DEL AAG AAG - TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr10:112343699_112343701delAAG ENST00000361804.4 + 12 1196_1198 c.1070_1072delAAG c.(1069-1074)aaa>a p.KE357del NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 357 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) GTGAAAGAGAAAGAAGAACGAGG 0.360 8 25 --- --- --- --- LINC00987 100499405 broad.mit.edu 37 12 9392739 9392740 + RNA INS - - TCTTCCTCCTCC rs71045240 TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr12:9392739_9392740insTCTTCCTCCTCC ENST00000427111.3 + 0 141_142 NR_036466.1 caccatcaccttcttcctcccc 0.545 4 6 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 7 32 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr13:108518687_108518689delCTG ENST00000375915.2 - 1 394_396 c.256_258delCAG c.(256-258)del p.Q86del NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 86 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 gccgctgcctctgctgctgctgc 0.719 8 41 --- --- --- --- PDCD6IPP2 646278 broad.mit.edu 37 15 29037110 29037110 + RNA DEL G G - TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr15:29037110delG ENST00000562423.1 + 0 229 GGGTGCTCTTGCAACTGACGC 0.383 6 13 --- --- --- --- FAM174B 400451 broad.mit.edu 37 15 93198679 93198684 + In_Frame_Del DEL TGGAGC TGGAGC - rs66488707 TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr15:93198679_93198684delTGGAGC ENST00000327355.5 - 1 504_509 c.206_211delGCTCCA c.(205-213)aac>a p.SSN69del NM_207446.2 NP_997329.2 Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B 69 integral to membrane endometrium(2)|lung(1) 3 CCACTGCTGTTGGAGCTGGAGCTGCC 0.714 8 1 --- --- --- --- C17orf97 400566 broad.mit.edu 37 17 263586 263645 + In_Frame_Del DEL GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC - rs71369083 byFrequency TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC ENST00000360127.6 + 2 968_1027 c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC c.(952-1011)del p.DPEALKGFHPDPKALKGFHP318del AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 348 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. p.G334G(4)|p.P327P(1) breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 TTTCCACACTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGG 0.681 16 72 --- --- --- --- NRIP1 8204 broad.mit.edu 37 21 16338750 16338750 + Frame_Shift_Del DEL A A - TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr21:16338750delA ENST00000400202.1 - 3 2476 c.1764delT c.(1762-1764)tcfs p.S588fs NRIP1_ENST00000318948.4_Frame_Shift_Del_p.S588fs|NRIP1_ENST00000400199.1_Frame_Shift_Del_p.S588fs P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 588 Repression domain 2. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TTAGCTTTTCAGACTGAGTAC 0.438 101 76 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28194933 28194934 + In_Frame_Ins INS - - TGC rs34890218 TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4 91e50225-73be-4fa0-9abb-61160aaf7490 g.chr22:28194933_28194934insTGC ENST00000302326.4 - 1 2552_2553 c.1598_1599insGCA c.(1597-1599)cca>cGCAca p.533_533P>RT NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 533 Poly-Gln. binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 gctgctgctgttgctgctgctg 0.653 T ETV6 """AML, meningioma""" 4 9 --- --- --- ---