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 FAT1 2195 broad.mit.edu 37 4 187630900 187630900 + Nonsense_Mutation SNP C C A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr4:187630900C>A ENST00000441802.2 - 2 291 c.82G>T c.(82-84)Gaa>Taa p.E28* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 28 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GGAGTCTGTTCAAGTCGTTGG 0.502000 HNSCC(5;0.00058) 7 32 0.0293803 0.0296325 1 1 0 TP53 7157 broad.mit.edu 37 17 7578211 7578211 + Missense_Mutation SNP C C A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr17:7578211C>A ENST00000420246.2 - 6 770 c.638G>T c.(637-639)cGa>cTa p.R213L TP53_ENST00000269305.4_Missense_Mutation_p.R213L|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.R213L|TP53_ENST00000359597.4_Missense_Mutation_p.R213L|TP53_ENST00000455263.2_Missense_Mutation_p.R213L|TP53_ENST00000445888.2_Missense_Mutation_p.R213L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) CACACTATGTCGAAAAGTGTT 0.532000 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) 6 44 0.0293803 0.0296325 1 1 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 105 0 0 1 0 0 LRRC71 149499 broad.mit.edu 37 1 156897444 156897444 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:156897444G>A ENST00000337428.7 + 7 973 c.819G>A c.(817-819)gcG>gcA p.A273A LRRC71_ENST00000490146.1_3'UTR NM_144702.2 NP_653303.2 Q8N4P6 LRC71_HUMAN leucine rich repeat containing 71 273 endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1) 12 GCTACATCGCGGACGTGAGTG 0.692000 OREG0013892 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 29 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718733 142718733 + Silent SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:142718733G>C ENST00000381779.4 - 2 417 c.192C>G c.(190-192)ctC>ctG p.L64L SLITRK4_ENST00000356928.1_Silent_p.L64L|SLITRK4_ENST00000338017.4_Silent_p.L64L NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 64 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TTTGGAAATTGAGGTGATAAA 0.368000 24 126 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169336575 169336575 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr4:169336575G>A ENST00000511577.1 - 22 3210 c.2963C>T c.(2962-2964)gCg>gTg p.A988V DDX60L_ENST00000505890.1_Missense_Mutation_p.A988V|DDX60L_ENST00000260184.7_Missense_Mutation_p.A988V Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 988 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TGTCGTTAGCGCAGCACAGGG 0.343000 17 38 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1276645 1276645 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr11:1276645C>T ENST00000447027.1 + 37 15990 c.15932C>T c.(15931-15933)cCg>cTg p.P5311L MUC5B_ENST00000529681.1_Missense_Mutation_p.P5308L Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 5308 cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTTGTGCCCCCGGGCCCATTC 0.687000 5 11 0 0 1 0 0 SPATA22 84690 broad.mit.edu 37 17 3365871 3365871 + Splice_Site SNP G G T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr17:3365871G>T ENST00000573128.1 - 5 718 c.233_splice c.e5-1 p.Q79_splice SPATA22_ENST00000355380.4_Splice_Site_p.Q36_splice|SPATA22_ENST00000541913.1_Splice_Site_p.Q63_splice|SPATA22_ENST00000397168.3_Splice_Site_p.Q79_splice|SPATA22_ENST00000572969.1_Splice_Site_p.Q79_splice|SPATA22_ENST00000268981.5_Splice_Site_p.Q79_splice|SPATA22_ENST00000575375.1_Splice_Site_p.Q79_splice Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 79 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 TGTGGTATTTGCCTTTCAAGG 0.353000 26 73 9.57634e-11 1.02293e-10 1 1 0 RASGRP1 10125 broad.mit.edu 37 15 38808409 38808409 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr15:38808409G>A ENST00000310803.5 - 6 841 c.664C>T c.(664-666)Cgg>Tgg p.R222W RASGRP1_ENST00000450598.2_Missense_Mutation_p.R222W|RASGRP1_ENST00000559830.1_Missense_Mutation_p.R222W|RASGRP1_ENST00000558164.1_Missense_Mutation_p.R222W|RASGRP1_ENST00000539159.1_Missense_Mutation_p.R174W|RASGRP1_ENST00000561180.1_Missense_Mutation_p.R273W NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 222 Ras-GEF. cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) GATATCCTCCGGAAAGACTTG 0.448000 7 60 0 0 1 0 0 RECK 8434 broad.mit.edu 37 9 36100388 36100388 + Missense_Mutation SNP G G T rs144037912 TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr9:36100388G>T ENST00000377966.3 + 11 1712 c.1146G>T c.(1144-1146)atG>atT p.M382I NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 382 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) TGAATGACATGAAGTTGTGGG 0.388000 24 70 4.47668e-21 4.93906e-21 1 1 0 GEMIN8 54960 broad.mit.edu 37 X 14027046 14027046 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:14027046G>A ENST00000380523.4 - 5 1033 c.715C>T c.(715-717)Ccc>Tcc p.P239S GEMIN8_ENST00000398355.3_Missense_Mutation_p.P239S NM_017856.2 NP_060326.1 Q9NWZ8 GEMI8_HUMAN gem (nuclear organelle) associated protein 8 239 spliceosomal snRNP assembly Cajal body|cytoplasm|SMN complex|spliceosomal complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 9 AACTTCAGGGGGATGACCGGC 0.557000 13 119 0 0 1 0 0 CALCA 796 broad.mit.edu 37 11 14991582 14991582 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr11:14991582G>A ENST00000361010.3 - 3 200 c.126C>T c.(124-126)ctC>ctT p.L42L CALCA_ENST00000359642.3_Silent_p.L42L|CALCA_ENST00000396372.2_Silent_p.L42L|CALCA_ENST00000331587.4_Silent_p.L42L|CALCA_ENST00000486207.1_Silent_p.L42L|CALCB_ENST00000523376.1_Intron NM_001033953.2 NP_001029125.1 P06881 CALCA_HUMAN calcitonin-related polypeptide alpha 42 activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation cytosol|extracellular space hormone activity central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 8 Phentolamine(DB00692) CGTCCTCACTGAGCGTGGCCG 0.637000 OREG0020791 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 34 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 99006124 99006124 + Missense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr2:99006124G>C ENST00000393504.1 + 6 870 c.453G>C c.(451-453)aaG>aaC p.K151N CNGA3_ENST00000436404.2_Missense_Mutation_p.K133N|CNGA3_ENST00000409937.1_Missense_Mutation_p.K155N|CNGA3_ENST00000272602.2_Missense_Mutation_p.K151N NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 151 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 TTTCCAGGAAGAAGACGAAAA 0.527000 24 242 0 0 1 0 0 KCTD3 51133 broad.mit.edu 37 1 215777532 215777532 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:215777532G>A ENST00000259154.4 + 13 1491 c.1197G>A c.(1195-1197)gtG>gtA p.V399V NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 399 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) CAGTACGAGTGATTGTACAAC 0.458000 17 79 0 0 1 0 0 AGTR1 185 broad.mit.edu 37 3 148458871 148458871 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:148458871G>A ENST00000542281.1 + 4 495 c.49G>A c.(49-51)Gat>Aat p.D17N AGTR1_ENST00000404754.2_Missense_Mutation_p.D17N|AGTR1_ENST00000461609.1_Missense_Mutation_p.D17N|AGTR1_ENST00000349243.3_Missense_Mutation_p.D17N|AGTR1_ENST00000418473.2_Missense_Mutation_p.D17N|AGTR1_ENST00000475347.1_Missense_Mutation_p.D17N|AGTR1_ENST00000497524.1_Missense_Mutation_p.D17N|AGTR1_ENST00000402260.1_Missense_Mutation_p.D17N|AGTR1_ENST00000474935.1_Missense_Mutation_p.D17N NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 17 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) AATCCAAGATGATTGTCCCAA 0.368000 17 70 0 0 1 0 0 GP6 51206 broad.mit.edu 37 19 55525965 55525965 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr19:55525965C>T ENST00000310373.3 - 8 1375 c.1348G>A c.(1348-1350)Gct>Act p.A450T GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_3'UTR NM_001083899.1 NP_001077368.1 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 68 enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) CCGTCTGGAGCCCATATTAGA 0.542000 6 28 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70613190 70613190 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:70613190C>T ENST00000449580.1 + 21 3139 c.3088C>T c.(3088-3090)Cgc>Tgc p.R1030C TAF1_ENST00000423759.1_Missense_Mutation_p.R1051C|TAF1_ENST00000276072.3_Missense_Mutation_p.R1051C|TAF1_ENST00000373790.4_Missense_Mutation_p.R1030C P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1030 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) TGATGTGGTGCGCACAATGTC 0.458000 24 91 0 0 1 0 0 DCTN1 1639 broad.mit.edu 37 2 74597184 74597184 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr2:74597184G>A ENST00000361874.3 - 13 1617 c.1300C>T c.(1300-1302)Ctg>Ttg p.L434L DCTN1_ENST00000409438.1_Silent_p.L300L|DCTN1_ENST00000409567.3_Silent_p.L414L|DCTN1_ENST00000409868.1_Silent_p.L417L|DCTN1_ENST00000394003.3_Silent_p.L427L|DCTN1_ENST00000409240.1_Silent_p.L397L|DCTN1_ENST00000407639.2_Silent_p.L300L NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 434 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding p.L434V(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 TCAGCACCCAGAGCAGCATCC 0.542000 25 89 0 0 1 0 0 KIAA1143 57456 broad.mit.edu 37 3 44795848 44795848 + Nonsense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:44795848G>A ENST00000296121.4 - 2 180 c.121C>T c.(121-123)Cag>Tag p.Q41* KIAA1143_ENST00000484437.1_5'UTR NM_020696.3 NP_065747.1 Q96AT1 K1143_HUMAN KIAA1143 41 p.Q41K(1) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582) TCTGGGGGCTGAGGCTGAATT 0.408000 8 106 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132159687 132159687 + Missense_Mutation SNP C C A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:132159687C>A ENST00000511190.1 - 6 3031 c.2562G>T c.(2560-2562)tgG>tgT p.W854C USP26_ENST00000406273.1_Missense_Mutation_p.W854C|USP26_ENST00000370832.1_Missense_Mutation_p.W854C NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 854 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) CGTAAGTGAACCAGATCTGTT 0.453000 45 119 1.23713e-20 1.35853e-20 1 1 0 CARD8 22900 broad.mit.edu 37 19 48715113 48715113 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr19:48715113C>G ENST00000391898.3 - 11 1510 c.1468G>C c.(1468-1470)Gag>Cag p.E490Q CARD8_ENST00000521613.1_Missense_Mutation_p.E440Q|CARD8_ENST00000520753.1_3'UTR|CARD8_ENST00000520153.1_Missense_Mutation_p.E440Q|CARD8_ENST00000519940.1_Missense_Mutation_p.E490Q|CARD8_ENST00000520015.1_3'UTR|CARD8_ENST00000447740.2_Missense_Mutation_p.E440Q|CARD8_ENST00000359009.4_Missense_Mutation_p.E384Q|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000357778.5_Intron|CTC-453G23.8_ENST00000595201.1_RNA NM_001184900.1 NP_001171829.1 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 384 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) TTTTCCTGCTCCACCAGCTCC 0.542000 19 222 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210561334 210561334 + Missense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr2:210561334G>C ENST00000360351.4 + 8 4755 c.4249G>C c.(4249-4251)Gct>Cct p.A1417P MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.A1413P NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1417 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TGAAAAGGAAGCTCGGAGATC 0.388000 7 93 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6377809 6377809 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr17:6377809C>T ENST00000262483.8 - 10 1288 c.1201G>A c.(1201-1203)Ggc>Agc p.G401S ACKR6_ENST00000421306.3_Missense_Mutation_p.G365S NM_031220.3 NP_112497.2 AGTGGCGAGCCGAAGAGGAAG 0.672000 5 20 0 0 1 0 0 SQRDL 58472 broad.mit.edu 37 15 45954317 45954317 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr15:45954317C>T ENST00000260324.7 + 3 785 c.399C>T c.(397-399)gaC>gaT p.D133D RP11-96O20.4_ENST00000564080.1_Silent_p.D133D|SQRDL_ENST00000568606.1_Silent_p.D133D NM_021199.2 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 133 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) CAGATGACGACGAGAAGGTAA 0.443000 13 72 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80136803 80136803 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr2:80136803C>T ENST00000466387.1 + 11 1660 c.936C>T c.(934-936)agC>agT p.S312S CTNNA2_ENST00000541047.1_Silent_p.S312S|CTNNA2_ENST00000361291.4_Silent_p.S346S|CTNNA2_ENST00000402739.4_Silent_p.S312S|CTNNA2_ENST00000540488.1_Silent_p.S312S|CTNNA2_ENST00000496558.1_Silent_p.S312S P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 312 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GCATCATCAGCGGCGCAGCGC 0.642000 18 77 0 0 1 0 0 HNF1A 6927 broad.mit.edu 37 12 121435467 121435467 + Splice_Site SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr12:121435467C>T ENST00000257555.6 + 7 1726 c.1501_splice c.e7+1 p.H500_splice HNF1A_ENST00000544413.1_Splice_Site_p.H500_splice|HNF1A_ENST00000402929.1_3'UTR|HNF1A_ENST00000400024.2_Silent_p.H500H|HNF1A_ENST00000541395.1_Splice_Site_p.H500_splice|HNF1A_ENST00000538626.1_Silent_p.H82H P20823 HNF1A_HUMAN HNF1 homeobox A 500 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGAGCCCCCACGGTGAGCGCC 0.627000 Hepatic Adenoma, Familial Clustering of 3 19 0 0 1 0 0 NFKB1 4790 broad.mit.edu 37 4 103534694 103534694 + Missense_Mutation SNP C C A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr4:103534694C>A ENST00000226574.4 + 23 3172 c.2705C>A c.(2704-2706)gCc>gAc p.A902D NFKB1_ENST00000600343.1_Missense_Mutation_p.A721D|NFKB1_ENST00000394820.4_Missense_Mutation_p.A901D|NFKB1_ENST00000505458.1_Missense_Mutation_p.A901D NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 901 Interaction with CFLAR. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) ACCTCTCAGGCCCACTCGCTG 0.542000 10 42 4.68919e-08 4.91946e-08 1 1 0 RPRD2 23248 broad.mit.edu 37 1 150443841 150443841 + Missense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:150443841G>C ENST00000401000.4 + 10 2404 c.2339G>C c.(2338-2340)gGa>gCa p.G780A RPRD2_ENST00000369068.4_Missense_Mutation_p.G806A|RPRD2_ENST00000539519.1_Missense_Mutation_p.G780A|RPRD2_ENST00000492220.1_3'UTR Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 806 Ser-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CCTTCTGATGGAATGGAGAGA 0.458000 14 43 0 0 1 0 0 ZNF763 284390 broad.mit.edu 37 19 12089301 12089301 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr19:12089301C>G ENST00000343949.5 + 4 726 c.571C>G c.(571-573)Cga>Gga p.R191G ZNF763_ENST00000538752.1_Missense_Mutation_p.R208G|ZNF763_ENST00000590798.1_Missense_Mutation_p.R208G|ZNF763_ENST00000358987.3_Missense_Mutation_p.R188G|ZNF763_ENST00000545530.1_Missense_Mutation_p.R66G NM_001012753.1 NP_001012771.1 zinc finger protein 763 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 TTCAGGCATTCGAAGACGCAT 0.403000 22 166 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89341312 89341312 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr16:89341312C>T ENST00000301030.4 - 11 8083 c.7623G>A c.(7621-7623)gcG>gcA p.A2541A ANKRD11_ENST00000378330.2_Silent_p.A2541A NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2541 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) TGGTCCTGGCCGCCCGGCAGT 0.622000 18 54 0 0 1 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935644 151935644 + Missense_Mutation SNP A A C rs35845634 byFrequency TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:151935644A>C ENST00000393902.3 - 3 1090 c.523T>G c.(523-525)Ttg>Gtg p.L175V MAGEA3_ENST00000370278.3_Missense_Mutation_p.L175V P43357 MAGA3_HUMAN melanoma antigen family A, 3 175 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) AAGATGTACAAGTGGCCGATG 0.532000 30 180 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32474719 32474719 + Silent SNP C C A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr2:32474719C>A ENST00000404025.2 - 5 2702 c.2214G>T c.(2212-2214)ctG>ctT p.L738L NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.L738L|NLRC4_ENST00000360906.5_Silent_p.L738L Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 738 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TCAAGGTTTTCAGGTTTGTTA 0.408000 37 309 2.05212e-20 2.24301e-20 1 1 0 FAM155A 728215 broad.mit.edu 37 13 108518288 108518288 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr13:108518288C>T ENST00000375915.2 - 1 795 c.657G>A c.(655-657)tcG>tcA p.S219S NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 219 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 GGTAAAAATCCGACAAGTTCC 0.577000 20 73 0 0 1 0 0 GLUD1 2746 broad.mit.edu 37 10 88822525 88822525 + Missense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr10:88822525G>C ENST00000277865.4 - 6 905 c.809C>G c.(808-810)tCt>tGt p.S270C GLUD1_ENST00000544149.1_Missense_Mutation_p.S137C|GLUD1_ENST00000537649.1_Missense_Mutation_p.S103C NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 270 S -> C (in HHF6; diminished sensitivity to GTP). glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) GCCAGTAGCAGAGATGCGTCC 0.433000 6 49 0 0 1 0 0 ZFAND5 7763 broad.mit.edu 37 9 74975561 74975561 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr9:74975561C>T ENST00000237937.3 - 2 691 c.134G>A c.(133-135)gGc>gAc p.G45D ZFAND5_ENST00000376962.5_Missense_Mutation_p.G45D|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.G45D|ZFAND5_ENST00000343431.2_Missense_Mutation_p.G45D NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2 NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1 O76080 ZFAN5_HUMAN zinc finger, AN1-type domain 5 45 DNA binding|zinc ion binding cervix(1)|kidney(2)|lung(2)|prostate(1) 6 GCTCATTCTGCCACTATTTTG 0.413000 42 222 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19737462 19737462 + Silent SNP G G T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr21:19737462G>T ENST00000284885.3 - 7 801 c.768C>A c.(766-768)atC>atA p.I256I NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 256 CUB 1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 ATTACCGTATGATCCACTGGC 0.353000 9 103 7.48243e-07 7.74613e-07 1 1 0 PLIN4 729359 broad.mit.edu 37 19 4511710 4511710 + Silent SNP A A G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr19:4511710A>G ENST00000301286.3 - 3 2219 c.2220T>C c.(2218-2220)acT>acC p.T740T NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 740 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 CAGACTTTGTAGTGTCCAGGC 0.587000 31 302 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151128415 151128415 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:151128415C>G ENST00000370325.1 - 6 733 c.680G>C c.(679-681)tGg>tCg p.W227S GABRE_ENST00000370328.3_Missense_Mutation_p.W227S|GABRE_ENST00000393914.3_Missense_Mutation_p.W34S P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 227 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GAAATTTTCCCACTTGTAGAT 0.413000 30 105 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139904519 139904519 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr9:139904519G>A ENST00000265662.5 - 42 6558 c.6411C>T c.(6409-6411)gaC>gaT p.D2137D ABCA2_ENST00000371605.3_Silent_p.D2136D|ABCA2_ENST00000341511.6_Silent_p.D2137D Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 2136 ABC transporter 2. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CGAACAGCGCGTCACACTGCG 0.697000 3 14 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62026810 62026810 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr17:62026810C>T ENST00000578147.1 - 15 3008 c.2932G>A c.(2932-2934)Gag>Aag p.E978K SCN4A_ENST00000435607.1_Missense_Mutation_p.E978K P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 978 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GCCTGCTCCTCAGGGTCCTCC 0.652000 4 31 0 0 1 0 0 FAM186B 84070 broad.mit.edu 37 12 49993562 49993562 + Missense_Mutation SNP G G A rs139362702 byFrequency TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr12:49993562G>A ENST00000544141.1 - 4 2190 c.1591C>T c.(1591-1593)Cgg>Tgg p.R531W FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000257894.2_Missense_Mutation_p.R621W Q8IYM0 F186B_HUMAN family with sequence similarity 186, member B 621 protein complex breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CGGCGGGTCCGTGGTCTGTAG 0.567000 18 120 0 0 1 0 0 FFAR1 2864 broad.mit.edu 37 19 35842961 35842961 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr19:35842961C>T ENST00000246553.2 + 1 517 c.507C>T c.(505-507)gtC>gtT p.V169V NM_005303.2 NP_005294.1 O14842 FFAR1_HUMAN free fatty acid receptor 1 169 energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) Icosapent(DB00159) GCTCTCCGGTCTGCCTGGAGG 0.647000 15 37 0 0 1 0 0 IQSEC2 23096 broad.mit.edu 37 X 53268428 53268428 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:53268428G>A ENST00000396435.3 - 11 3264 c.3064C>T c.(3064-3066)Cgt>Tgt p.R1022C IQSEC2_ENST00000375365.2_Missense_Mutation_p.R817C|IQSEC2_ENST00000375368.5_Missense_Mutation_p.R1012C NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 1012 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 AAAGACTGACGGAAACTGTAC 0.507000 OREG0019800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 62 0 0 1 0 0 ANKRD52 283373 broad.mit.edu 37 12 56648679 56648679 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr12:56648679G>A ENST00000267116.7 - 6 641 c.520C>T c.(520-522)Cgg>Tgg p.R174W NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 174 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 AGAGGCTGCCGCTCCTTTTTG 0.493000 39 82 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 6 141 0 0 1 0 0 SSX7 280658 broad.mit.edu 37 X 52681920 52681920 + Splice_Site SNP C C G rs141868047 TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:52681920C>G ENST00000298181.5 - 3 342 c.184_splice c.e3+1 p.G62_splice NM_173358.2 NP_775494.1 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 62 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1) 16 Ovarian(276;0.236) TTTCTGTTACCTAGTTTAGTC 0.413000 16 169 0 0 1 0 0 MAN1A2 10905 broad.mit.edu 37 1 117944812 117944812 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:117944812G>A ENST00000356554.3 + 2 1042 c.307G>A c.(307-309)Gag>Aag p.E103K MAN1A2_ENST00000482811.1_Intron NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 103 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.E103Q(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TCACAGGGAAGAGGAAGAACG 0.363000 6 76 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42877782 42877782 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr13:42877782C>T ENST00000025301.2 + 8 5075 c.4900C>T c.(4900-4902)Cat>Tat p.H1634Y NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1634 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TAGGATTTTTCATCTCAGTGT 0.423000 30 100 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121650440 121650440 + Missense_Mutation SNP G G T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr7:121650440G>T ENST00000393386.2 + 12 1751 c.1340G>T c.(1339-1341)aGa>aTa p.R447I PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R447I NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 447 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 AATCCTGGTAGAGACAGTGCT 0.398000 15 104 3.45872e-05 3.54934e-05 1 1 0 C1orf101 257044 broad.mit.edu 37 1 244681979 244681979 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:244681979C>T ENST00000366534.4 + 8 569 c.515C>T c.(514-516)tCa>tTa p.S172L C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.S172L|C1orf101_ENST00000366531.3_Missense_Mutation_p.S21L NM_001130957.1 NP_001124429.1 Q5SY80 CA101_HUMAN chromosome 1 open reading frame 101 172 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) GTTTATTCTTCAAATGAGAAA 0.294000 10 62 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178947838 178947838 + Missense_Mutation SNP T T A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:178947838T>A ENST00000263967.3 + 19 2870 c.2713T>A c.(2713-2715)Tgt>Agt p.C905S NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 905 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGCTGGATACTGTGTAGCTAC 0.373000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 76 214 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43815351 43815351 + Silent SNP T T C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr15:43815351T>C ENST00000382031.1 + 5 2425 c.2394T>C c.(2392-2394)ccT>ccC p.P798P MAP1A_ENST00000300231.5_Silent_p.P560P|MAP1A_ENST00000399453.1_Silent_p.P560P P78559 MAP1A_HUMAN microtubule-associated protein 1A 560 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AGCCATTCCCTCTAGACACTG 0.537000 23 64 0 0 1 0 0 ERF 2077 broad.mit.edu 37 19 42754072 42754072 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr19:42754072G>A ENST00000222329.4 - 3 437 c.280C>T c.(280-282)Ctg>Ttg p.L94L ERF_ENST00000440177.2_Silent_p.L19L|AC006486.9_ENST00000594664.1_Intron NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 94 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GTCTTGTGCAGAATGCGCTTG 0.473000 34 182 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91805805 91805805 + Splice_Site SNP A A G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr14:91805805A>G ENST00000389857.6 - 8 712 c.624_splice c.e8-1 p.L209_splice NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 209 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GTCCACGATCAGCTGCAGCCG 0.602000 3 14 0 0 1 0 0 RNF141 50862 broad.mit.edu 37 11 10540606 10540606 + Missense_Mutation SNP A A G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr11:10540606A>G ENST00000265981.2 - 5 659 c.517T>C c.(517-519)Ttt>Ctt p.F173L RNF141_ENST00000528665.1_Missense_Mutation_p.F173L NM_016422.3 NP_057506.2 Q8WVD5 RN141_HUMAN ring finger protein 141 173 zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1) 9 all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064) TTCTGACAAAAGCTGTGAGCA 0.468000 4 40 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94640110 94640110 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:94640110C>T ENST00000260526.6 - 23 3283 c.3101G>A c.(3100-3102)aGa>aAa p.R1034K NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 1034 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TCTGCCATTTCTCTCATTAGG 0.398000 22 136 0 0 1 0 0 PACS2 23241 broad.mit.edu 37 14 105821444 105821444 + Missense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr14:105821444G>C ENST00000447393.1 + 4 528 c.353G>C c.(352-354)aGa>aCa p.R118T PACS2_ENST00000430725.2_Missense_Mutation_p.R51T|PACS2_ENST00000547217.1_Missense_Mutation_p.R88T|PACS2_ENST00000325438.8_Missense_Mutation_p.R118T|PACS2_ENST00000458164.2_Missense_Mutation_p.R118T NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 118 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) CTGCAGCGCAGAAAGCGCTAC 0.607000 7 37 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32740385 32740385 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:32740385C>T ENST00000333070.4 + 3 253 c.153C>T c.(151-153)taC>taT p.Y51Y LCK_ENST00000373564.3_Silent_p.Y51Y|LCK_ENST00000336890.5_Silent_p.Y51Y NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 51 Interactions with CD4 and CD8 (By similarity). activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) TGGTTACCTACGAAGGCTCCA 0.612000 T TRB@ T-ALL 4 35 0 0 1 0 0 LRRC75A-AS1 125144 broad.mit.edu 37 17 16342471 16342471 + RNA SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr17:16342471C>T ENST00000475953.1 + 0 113 C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA NR_027667.1 CCCGGGAAGCCTGTCTAGAGG 0.642000 11 61 0 0 1 0 0 TMTC4 84899 broad.mit.edu 37 13 101266643 101266643 + Nonsense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr13:101266643C>T ENST00000342624.5 - 16 2136 c.1878G>A c.(1876-1878)tgG>tgA p.W626* TMTC4_ENST00000376234.3_Nonsense_Mutation_p.W607*|TMTC4_ENST00000328767.5_Nonsense_Mutation_p.W496* NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 607 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGGCATTTCTCCACGCATTCA 0.448000 29 95 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10610554 10610554 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr19:10610554G>A ENST00000171111.5 - 2 703 c.156C>T c.(154-156)ttC>ttT p.F52F KEAP1_ENST00000393623.2_Silent_p.F52F NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 52 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GGGTGTAGCTGAAGGTGCGGT 0.617000 9 112 0 0 1 0 0 ASTE1 28990 broad.mit.edu 37 3 130743867 130743867 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:130743867C>G ENST00000264992.3 - 3 725 c.284G>C c.(283-285)aGa>aCa p.R95T ASTE1_ENST00000514044.1_Missense_Mutation_p.R95T NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 95 DNA repair nuclease activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 CTCTCTAGCTCTATCCTTTAA 0.393000 4 73 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58831438 58831438 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr14:58831438G>A ENST00000355431.3 + 20 3004 c.2631G>A c.(2629-2631)atG>atA p.M877I ARID4A_ENST00000431317.2_Missense_Mutation_p.M877I|ARID4A_ENST00000395168.3_Missense_Mutation_p.M877I|ARID4A_ENST00000348476.3_Missense_Mutation_p.M877I NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 877 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GAATGGAAATGACAAATACTG 0.328000 10 50 0 0 1 0 0 UNC50 25972 broad.mit.edu 37 2 99226346 99226346 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr2:99226346C>T ENST00000409975.1 + 1 1305 c.175C>T c.(175-177)Cgg>Tgg p.R59W UNC50_ENST00000357765.2_Missense_Mutation_p.R42W|UNC50_ENST00000409347.1_Missense_Mutation_p.R59W Q53HI1 UNC50_HUMAN unc-50 homolog (C. elegans) 42 protein transport Golgi membrane|integral to membrane|nuclear inner membrane RNA binding breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1) 10 TTTCCGCTTTCGGCAAATGGA 0.473000 8 174 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1264618 1264618 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr5:1264618C>T ENST00000310581.5 - 11 2801 c.2744G>A c.(2743-2745)gGt>gAt p.G915D TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Intron NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 915 Required for oligomerization.|Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AGCCGTGCCACCCAGGGCCTC 0.622000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 11 52 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr4:153247289G>C ENST00000281708.4 - 10 2742 c.1513C>G c.(1513-1515)Cgc>Ggc p.R505G FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 505 R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 21 91 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7793095 7793095 + Splice_Site SNP G G T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr17:7793095G>T ENST00000380358.4 + 2 391 c.e2+1 CHD3_ENST00000358181.4_Splice_Site|CHD3_ENST00000330494.7_Splice_Site|CHD3_ENST00000570758.1_Splice_Site NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 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|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CAAGAAGCGTGTAAGTGTCAA 0.507000 16 33 6.31663e-08 6.59737e-08 1 1 0 PCDHB3 56132 broad.mit.edu 37 5 140482233 140482233 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr5:140482233C>G ENST00000231130.2 + 1 2000 c.2000C>G c.(1999-2001)tCc>tGc p.S667C NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 667 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACGGCTTCTCCCAGCCCTAC 0.692000 16 138 0 0 1 0 0 CCDC112 153733 broad.mit.edu 37 5 114611171 114611171 + Silent SNP A A T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr5:114611171A>T ENST00000379611.5 - 6 947 c.660T>A c.(658-660)ccT>ccA p.P220P CCDC112_ENST00000512261.1_Silent_p.P137P|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000506442.1_Silent_p.P137P|CCDC112_ENST00000395557.4_Silent_p.P137P NM_001040440.2 NP_001035530.1 Q8NEF3 CC112_HUMAN coiled-coil domain containing 112 137 endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1) 20 all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06) CTTTGTCTACAGGAACTTTGC 0.403000 42 142 0 0 1 0 0 LCN15 389812 broad.mit.edu 37 9 139658213 139658213 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr9:139658213C>G ENST00000316144.5 - 3 283 c.259G>C c.(259-261)Gat>Cat p.D87H LCN15_ENST00000482511.1_5'UTR NM_203347.1 NP_976222.1 Q6UWW0 LCN15_HUMAN lipocalin 15 87 lipid metabolic process extracellular region binding|transporter activity endometrium(1)|lung(1) 2 TACTCGGCATCCACCTGGTTA 0.672000 7 32 0 0 1 0 0 SMG6 23293 broad.mit.edu 37 17 2203825 2203825 + Missense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr17:2203825G>C ENST00000544865.1 - 2 639 c.129C>G c.(127-129)ttC>ttG p.F43L SMG6_ENST00000263073.5_Missense_Mutation_p.F74L Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 74 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TTTCATCTTTGAATTCCTCAC 0.453000 33 185 0 0 1 0 0 PRDM1 639 broad.mit.edu 37 6 106555311 106555311 + Missense_Mutation SNP C C G rs149770989 TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr6:106555311C>G ENST00000369096.4 + 7 2662 c.2428C>G c.(2428-2430)Ctg>Gtg p.L810V PRDM1_ENST00000369091.2_Missense_Mutation_p.L774V|PRDM1_ENST00000369089.3_Missense_Mutation_p.L676V NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 810 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) CCCACTACCTCTGGTACCTGT 0.433000 """D, N, Mis, F, S""" DLBCL 16 103 0 0 1 0 0 SV2A 9900 broad.mit.edu 37 1 149879277 149879277 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:149879277G>A ENST00000369146.3 - 10 2143 c.1653C>T c.(1651-1653)ttC>ttT p.F551F SV2A_ENST00000369145.1_Silent_p.F551F NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 551 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CAGTGTTGATGAATGTGCAGT 0.483000 15 121 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56086664 56086664 + Silent SNP T T G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr12:56086664T>G ENST00000257880.7 - 22 3159 c.2940A>C c.(2938-2940)ccA>ccC p.P980P ITGA7_ENST00000452168.2_Silent_p.P843P|ITGA7_ENST00000394230.2_Silent_p.P940P|ITGA7_ENST00000553804.1_Silent_p.P940P|ITGA7_ENST00000347027.6_Silent_p.P930P|ITGA7_ENST00000555728.1_Silent_p.P980P|ITGA7_ENST00000257879.6_Silent_p.P936P|ITGA7_ENST00000394229.2_Silent_p.P936P Q13683 ITA7_HUMAN integrin, alpha 7 980 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CAGAGGACACTGGCCACCAGG 0.637000 7 20 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187524602 187524602 + Missense_Mutation SNP T T C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr4:187524602T>C ENST00000441802.2 - 19 11287 c.11078A>G c.(11077-11079)gAc>gGc p.D3693G NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3693 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AAGTAAGACGTCCAGATGTGG 0.453000 HNSCC(5;0.00058) 14 40 0 0 1 0 0 SGPP1 81537 broad.mit.edu 37 14 64194623 64194623 + Missense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr14:64194623G>C ENST00000247225.6 - 1 134 c.40C>G c.(40-42)Ctg>Gtg p.L14V NM_030791.2 NP_110418.1 Q9BX95 SGPP1_HUMAN sphingosine-1-phosphate phosphatase 1 14 endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 10 OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103) GGGTCCTGCAGACGGCCAACC 0.721000 3 5 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228402696 228402696 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:228402696C>T ENST00000570156.2 + 5 1799 c.1725C>T c.(1723-1725)acC>acT p.T575T OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.T575T|OBSCN_ENST00000422127.1_Silent_p.T575T|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 575 Fibronectin type-III 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGAGCTGACCGTGGCTGATG 0.587000 11 25 0 0 1 0 0 SEPT6 23157 broad.mit.edu 37 X 118787004 118787004 + Splice_Site SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:118787004C>T ENST00000394610.1 - 4 606 c.e4-1 SEPT6_ENST00000394617.2_Splice_Site|SEPT6_ENST00000354416.3_Splice_Site|SEPT6_ENST00000394616.4_Splice_Site|SEPT6_ENST00000343984.5_Splice_Site|SEPT6_ENST00000354228.4_Splice_Site|SEPT6_ENST00000360156.7_Splice_Site|SEPT6_ENST00000489216.1_Splice_Site NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 AGGCTTGTAGCTAAAAGGGAG 0.483000 T MLL AML 15 76 0 0 1 0 0 SEC13 6396 broad.mit.edu 37 3 10357041 10357041 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:10357041C>T ENST00000397117.1 - 3 677 c.86G>A c.(85-87)cGc>cAc p.R29H SEC13_ENST00000397109.3_Missense_Mutation_p.R29H|SEC13_ENST00000337354.4_Missense_Mutation_p.R46H|SEC13_ENST00000383801.2_Missense_Mutation_p.R89H|SEC13_ENST00000350697.3_Missense_Mutation_p.R43H P55735 SEC13_HUMAN SEC13 homolog (S. cerevisiae) 43 COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex protein binding p.R43H(1) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 CCCTCCATTGCGCACATCAAA 0.592000 9 33 0 0 1 0 0 GLTP 51228 broad.mit.edu 37 12 110290475 110290475 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr12:110290475G>A ENST00000318348.4 - 5 628 c.515C>T c.(514-516)aCg>aTg p.T172M GLTP_ENST00000544393.1_Missense_Mutation_p.T153M NM_016433.3 NP_057517.1 Q9NZD2 GLTP_HUMAN glycolipid transfer protein 172 cytoplasm glycolipid binding|glycolipid transporter activity endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1) 4 Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122) BRCA - Breast invasive adenocarcinoma(302;0.0025) CTCCTCCTCCGTAACATTCTG 0.542000 OREG0022112 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 66 304 0 0 1 0 0 PRKCD 5580 broad.mit.edu 37 3 53215501 53215501 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:53215501C>T ENST00000394729.2 + 5 746 c.418C>T c.(418-420)Cca>Tca p.P140S PRKCD_ENST00000330452.3_Missense_Mutation_p.P140S NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 140 activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GGCCAAGTTCCCAACGATGAA 0.537000 9 39 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (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.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(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) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 6 14 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 31066223 31066223 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr21:31066223G>A ENST00000399914.1 - 2 799 c.278C>T c.(277-279)tCg>tTg p.S93L GRIK1_ENST00000389124.2_Missense_Mutation_p.S93L|GRIK1_ENST00000399907.1_Missense_Mutation_p.S93L|GRIK1_ENST00000399913.1_Missense_Mutation_p.S93L|GRIK1_ENST00000399909.1_Missense_Mutation_p.S93L|GRIK1_ENST00000535441.1_Missense_Mutation_p.S93L|GRIK1_ENST00000389125.3_Missense_Mutation_p.S93L|GRIK1_ENST00000309434.7_Missense_Mutation_p.S93L|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000327783.4_Missense_Mutation_p.S93L P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 93 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) ACCTCTCCGCGAGGCTTCAAA 0.423000 22 86 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154569319 154569319 + Missense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:154569319G>C ENST00000368474.4 - 6 2431 c.2232C>G c.(2230-2232)ttC>ttG p.F744L ADAR_ENST00000292205.5_Missense_Mutation_p.F787L|ADAR_ENST00000368471.3_Missense_Mutation_p.F449L NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 744 DRBM 3. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) CGACCAACTTGAATTCAGCAG 0.562000 9 71 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40360117 40360117 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr6:40360117G>A ENST00000338305.6 - 3 2477 c.1935C>T c.(1933-1935)tcC>tcT p.S645S NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 645 cell junction|integral to membrane|postsynaptic membrane p.S645S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GGCGCGGGGCGGAGGGTGGGA 0.711000 4 15 0 0 1 0 0 MXI1 4601 broad.mit.edu 37 10 111988081 111988081 + Splice_Site SNP T T C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr10:111988081T>C ENST00000332674.5 + 2 611 c.e2+2 MXI1_ENST00000369612.1_Splice_Site|MXI1_ENST00000361248.4_Splice_Site|MXI1_ENST00000393134.1_Splice_Site|MXI1_ENST00000485566.1_Splice_Site|MXI1_ENST00000239007.7_Splice_Site NM_130439.3 NP_569157.2 P50539 MXI1_HUMAN MAX interactor 1, dimerization protein cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1) 10 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127) TGCCAACAGGTAGCAAGCTGG 0.572000 4 37 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180043378 180043378 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr5:180043378G>A ENST00000261937.6 - 23 3286 c.3208C>T c.(3208-3210)Cgc>Tgc p.R1070C FLT4_ENST00000393347.3_Missense_Mutation_p.R1070C|FLT4_ENST00000502649.1_Missense_Mutation_p.R1070C NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 1070 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CTGCCCTTGCGGACGTAGTCG 0.602000 10 52 0 0 1 0 0 OR7A5 26659 broad.mit.edu 37 19 14938848 14938848 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr19:14938848G>A ENST00000322301.3 - 2 293 c.206C>T c.(205-207)gCt>gTt p.A69V OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.A69V Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 ACAAATGTCAGCAAAGGACAG 0.493000 17 143 0 0 1 0 0 TRBV24-1 28563 broad.mit.edu 37 7 142364624 142364624 + RNA SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr7:142364624C>T ENST00000390397.2 + 0 295 CAGTGTCTCTCGACAGGCACA 0.478000 7 26 0 0 1 0 0 PLCG1 5335 broad.mit.edu 37 20 39794930 39794930 + Silent SNP C C G rs139798242 by1000genomes TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr20:39794930C>G ENST00000373272.2 + 17 2301 c.1896C>G c.(1894-1896)ctC>ctG p.L632L PLCG1_ENST00000373271.1_Silent_p.L632L|PLCG1_ENST00000244007.3_Silent_p.L632L NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 632 SH2 1. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) TTGACTCCCTCTATGACCTCA 0.567000 13 63 0 0 1 0 0 LSR 51599 broad.mit.edu 37 19 35757744 35757744 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr19:35757744C>T ENST00000602122.1 + 7 1589 c.1102C>T c.(1102-1104)Cgc>Tgc p.R368C LSR_ENST00000354900.3_Missense_Mutation_p.R369C|LSR_ENST00000360798.3_Missense_Mutation_p.R320C|LSR_ENST00000427250.1_Missense_Mutation_p.R232C|LSR_ENST00000347609.4_Missense_Mutation_p.R330C|LSR_ENST00000361790.3_Missense_Mutation_p.R388C Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 388 embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCTAGAAGTCCGCAGTGGCTA 0.602000 6 11 0 0 1 0 0 GABARAPL1 23710 broad.mit.edu 37 12 10374431 10374431 + Missense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr12:10374431G>C ENST00000546017.1 + 4 1003 c.64G>C c.(64-66)Gag>Cag p.E22Q GABARAPL1_ENST00000266458.5_Missense_Mutation_p.E112Q|GABARAPL1_ENST00000545887.1_Missense_Mutation_p.E112Q|GABARAPL1_ENST00000544284.1_Missense_Mutation_p.E22Q|GABARAPL1_ENST00000539170.1_Missense_Mutation_p.E22Q|GABARAPL1_ENST00000535576.1_Missense_Mutation_p.E22Q Q9H0R8 GBRL1_HUMAN GABA(A) receptor-associated protein like 1 112 Interaction with beta-tubulin (By similarity). autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule beta-tubulin binding|GABA receptor binding NS(1)|lung(1) 2 CTACAGTGATGAGAGTGTCTA 0.478000 5 54 0 0 1 0 0 DIS3L2 129563 broad.mit.edu 37 2 233028272 233028272 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr2:233028272C>G ENST00000325385.7 + 9 1330 c.1054C>G c.(1054-1056)Cta>Gta p.L352V DIS3L2_ENST00000273009.6_Missense_Mutation_p.L352V|DIS3L2_ENST00000409307.1_Missense_Mutation_p.L352V NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 352 exonuclease activity|ribonuclease activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) TTCAGAAGTTCTAGAATGTCT 0.453000 9 40 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69666071 69666071 + Missense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr6:69666071G>C ENST00000370598.1 + 7 2172 c.1351G>C c.(1351-1353)Gaa>Caa p.E451Q NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 451 TSP type-1 3. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CTATAACCCTGAATGTACAGG 0.512000 12 32 0 0 1 0 0 C2orf54 79919 broad.mit.edu 37 2 241835205 241835205 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr2:241835205G>A ENST00000388934.4 - 1 368 c.210C>T c.(208-210)ttC>ttT p.F70F NM_001085437.1 NP_001078906.1 Q08AI8 CB054_HUMAN chromosome 2 open reading frame 54 70 haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) AGCGCAGGGCGAACTGGAAGG 0.657000 10 30 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74005808 74005808 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr17:74005808C>T ENST00000301607.3 - 22 3731 c.3478G>A c.(3478-3480)Gag>Aag p.E1160K EVPL_ENST00000586740.1_Missense_Mutation_p.E1182K NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1160 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CTCTCCTCCTCGAGGAGGCTC 0.622000 8 56 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70375176 70375176 + Silent SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:70375176C>G ENST00000374051.3 + 4 952 c.630C>G c.(628-630)gtC>gtG p.V210V NLGN3_ENST00000536169.1_Silent_p.V190V|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Silent_p.V230V NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 230 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity p.V230V(1)|p.V210V(1) biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) ATGGCAATGTCATCGTCATCA 0.542000 6 105 0 0 1 0 0 NDUFS5 4725 broad.mit.edu 37 1 39494450 39494450 + Missense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:39494450G>C ENST00000372969.3 + 2 141 c.54G>C c.(52-54)ttG>ttC p.L18F NDUFS5_ENST00000372967.3_Missense_Mutation_p.L18F NM_004552.2 NP_004543.1 O43920 NDUS5_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) 18 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.93e-18) NADH(DB00157) ATCGATGGTTGACAATCCAGA 0.408000 8 110 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241659322 241659322 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr2:241659322C>T ENST00000498729.2 - 46 5136 c.4890G>A c.(4888-4890)cgG>cgA p.R1630R KIF1A_ENST00000320389.7_Silent_p.R1529R NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 1529 PH. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGCTGGCTGGCCGGGAGCAGG 0.706000 4 33 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43836061 43836061 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr20:43836061C>T ENST00000372781.3 + 2 180 c.123C>T c.(121-123)caC>caT p.H41H SEMG1_ENST00000244069.6_Silent_p.H41H NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) AATTTCCACACGGACAAAAGG 0.393000 24 126 0 0 1 0 0 SPIN4 139886 broad.mit.edu 37 X 62570071 62570071 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:62570071C>G ENST00000374884.2 - 1 1152 c.574G>C c.(574-576)Gat>Cat p.D192H SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000335144.3_Missense_Mutation_p.D210H Q56A73 SPIN4_HUMAN spindlin family, member 4 210 gamete generation endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 11 GACCCGTCATCTTTGGCATGC 0.448000 14 109 0 0 1 0 0 EXOC3L1 283849 broad.mit.edu 37 16 67219151 67219151 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr16:67219151G>A ENST00000314586.6 - 11 1877 c.1637C>T c.(1636-1638)gCg>gTg p.A546V NM_178516.3 NP_848611.2 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 1 546 exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 GGGCAGATCCGCGAACAGGGG 0.637000 15 66 0 0 1 0 0 DTD1 92675 broad.mit.edu 37 20 18576734 18576734 + Missense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr20:18576734G>C ENST00000377452.3 + 3 399 c.219G>C c.(217-219)gaG>gaC p.E73D DTD1_ENST00000494921.1_3'UTR NM_080820.4 NP_543010.3 Q8TEA8 DTD1_HUMAN D-tyrosyl-tRNA deacylase 1 73 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds large_intestine(4)|lung(1)|ovary(2) 7 AACAGTACGAGATTCTGTGTG 0.502000 6 80 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195595418 195595418 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:195595418G>A ENST00000333602.6 - 12 2323 c.1706C>T c.(1705-1707)aCg>aTg p.T569M TNK2_ENST00000392400.1_Missense_Mutation_p.T569M|TNK2_ENST00000428187.1_Missense_Mutation_p.T601M|TNK2_ENST00000381916.2_Missense_Mutation_p.T647M NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 569 Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GTCGATGAGCGTGACCTCAGC 0.751000 6 9 0 0 1 0 0 CHN1 1123 broad.mit.edu 37 2 175689187 175689187 + Silent SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr2:175689187G>C ENST00000409900.3 - 8 1000 c.687C>G c.(685-687)ctC>ctG p.L229L CHN1_ENST00000295497.7_Silent_p.L104L|CHN1_ENST00000409156.3_Silent_p.L203L|CHN1_ENST00000409597.1_Silent_p.L45L|CHN1_ENST00000488080.1_5'UTR NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 229 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) CCTGAGCAATGAGACCCCACA 0.453000 T TAF15 extraskeletal myxoid chondrosarcoma 4 23 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034457 52034457 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr19:52034457C>T ENST00000346477.3 - 2 452 c.384G>A c.(382-384)atG>atA p.M128I SIGLEC6_ENST00000391797.3_Missense_Mutation_p.M128I|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.M128I|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.M128I|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.M128I|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.M92I NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 128 cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) AACCGTATTTCATCCATTTGG 0.537000 32 123 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153190726 153190726 + Missense_Mutation SNP C C A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr5:153190726C>A ENST00000285900.5 + 16 3005 c.2662C>A c.(2662-2664)Caa>Aaa p.Q888K GRIA1_ENST00000340592.5_Missense_Mutation_p.Q888K|GRIA1_ENST00000518142.1_Missense_Mutation_p.Q808K|GRIA1_ENST00000521843.2_Missense_Mutation_p.Q819K|GRIA1_ENST00000448073.4_Missense_Mutation_p.Q898K|GRIA1_ENST00000518783.1_Missense_Mutation_p.Q898K NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 888 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CAAGTCCATGCAATCGATTCC 0.627000 15 50 2.61681e-11 2.82088e-11 1 1 0 UVRAG 7405 broad.mit.edu 37 11 75715074 75715074 + Silent SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr11:75715074C>G ENST00000356136.3 + 9 1093 c.852C>G c.(850-852)ctC>ctG p.L284L UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000528420.1_Silent_p.L183L NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 284 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 CTGAGCACCTCAAACTTCAAC 0.418000 42 148 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26943114 26943114 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr12:26943114C>T ENST00000381340.3 - 2 555 c.139G>A c.(139-141)Gcc>Acc p.A47T ITPR2_ENST00000242737.5_Missense_Mutation_p.A47T NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 47 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GGAGGGTTGGCAAGGTCCCCG 0.388000 4 100 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154146790 154146790 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:154146790G>A ENST00000389740.2 - 1 714 c.615C>T c.(613-615)ctC>ctT p.L205L NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 205 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AGAGGCCCACGAGGAGTCCGA 0.602000 28 93 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11711205 11711205 + Missense_Mutation SNP C C A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr17:11711205C>A ENST00000262442.3 + 44 8645 c.8577C>A c.(8575-8577)gaC>gaA p.D2859E DNAH9_ENST00000454412.2_Missense_Mutation_p.D2859E NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2859 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGATCCAGGACTTCAAGGTAA 0.557000 5 32 0.014758 0.0150135 1 1 0 CCDC132 55610 broad.mit.edu 37 7 92926149 92926149 + Splice_Site SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr7:92926149G>A ENST00000544910.1 + 16 1392 c.e16+1 CCDC132_ENST00000535481.1_Splice_Site|CCDC132_ENST00000305866.5_Splice_Site|CCDC132_ENST00000541136.1_Splice_Site|CCDC132_ENST00000317751.6_Splice_Site NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) TAATCAGCAGGTAGTATTTAA 0.299000 12 47 0 0 1 0 0 INPP5A 3632 broad.mit.edu 37 10 134563078 134563078 + Missense_Mutation SNP G G T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr10:134563078G>T ENST00000368594.3 + 10 1067 c.790G>T c.(790-792)Gtg>Ttg p.V264L INPP5A_ENST00000368593.3_Missense_Mutation_p.V264L NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 264 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) CAATGAAGTGGTGAAGCTCAT 0.622000 20 59 1.64293e-13 1.78745e-13 1 1 0 PCDHGC3 5098 broad.mit.edu 37 5 140857005 140857005 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr5:140857005C>G ENST00000308177.3 + 1 1426 c.1322C>G c.(1321-1323)aCa>aGa p.T441R PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGCCCTTACAATAGTGCGT 0.517000 13 85 0 0 1 0 0 SLC2A2 6514 broad.mit.edu 37 3 170724960 170724960 + Missense_Mutation SNP C C T rs121909741 TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:170724960C>T ENST00000314251.3 - 5 668 c.589G>A c.(589-591)Gtc>Atc p.V197I SLC2A2_ENST00000382808.4_Missense_Mutation_p.V78I NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 197 V -> I (in NIDDM; abolishes transport activity of the transporter expressed in Xenopus oocytes). carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity p.V197I(1) central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) ATGCCCGTGACGATGGCCAGC 0.483000 18 34 0 0 1 0 0 CHRM1 1128 broad.mit.edu 37 11 62677313 62677313 + Silent SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr11:62677313G>C ENST00000306960.3 - 2 1801 c.1260C>G c.(1258-1260)ctC>ctG p.L420L AP000438.2_ENST00000543624.1_RNA NM_000738.2 NP_000729.2 P11229 ACM1_HUMAN cholinergic receptor, muscarinic 1 420 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding large_intestine(5)|lung(3)|stomach(1) 9 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209) CTTTGTTGCAGAGTGCGTAGC 0.612000 47 151 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179623873 179623873 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr2:179623873C>G ENST00000589042.1 - 44 10365 c.10141G>C c.(10141-10143)Gac>Cac p.D3381H TTN_ENST00000342992.6_Missense_Mutation_p.D3381H|TTN_ENST00000342175.6_Missense_Mutation_p.D3335H|TTN_ENST00000359218.5_Missense_Mutation_p.D3335H|TTN_ENST00000591111.1_Missense_Mutation_p.D3381H|TTN_ENST00000360870.5_Missense_Mutation_p.D3381H|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D3335H|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3094 Ig-like 20. 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) ATTTTCTTGTCTTTGCTGTAC 0.363000 21 100 0 0 1 0 0 MFN2 9927 broad.mit.edu 37 1 12067225 12067225 + Missense_Mutation SNP G G T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:12067225G>T ENST00000235329.5 + 17 2310 c.1988G>T c.(1987-1989)cGc>cTc p.R663L MFN2_ENST00000444836.1_Missense_Mutation_p.R663L NM_014874.3 NP_055689.1 O95140 MFN2_HUMAN mitofusin 2 663 blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 20 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) GCCTTCAAGCGCCAGTTTGTG 0.602000 15 41 6.72482e-11 7.21613e-11 1 1 0 ZDHHC21 340481 broad.mit.edu 37 9 14674322 14674322 + Missense_Mutation SNP T T C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr9:14674322T>C ENST00000380916.3 - 4 483 c.17A>G c.(16-18)cAc>cGc p.H6R NM_178566.4 NP_848661.1 Q8IVQ6 ZDH21_HUMAN zinc finger, DHHC-type containing 21 6 nitric oxide metabolic process|regulation of nitric-oxide synthase activity Golgi membrane|integral to membrane palmitoyltransferase activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 GBM - Glioblastoma multiforme(50;4.31e-06) AACAACAAAGTGAATCCGGAG 0.383000 6 142 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132504724 132504724 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr12:132504724C>T ENST00000333577.4 + 23 4625 c.4516C>T c.(4516-4518)Ccg>Tcg p.P1506S EP400_ENST00000389562.2_Missense_Mutation_p.P1469S|EP400_ENST00000332482.4_Missense_Mutation_p.P1433S|EP400_ENST00000330386.6_Missense_Mutation_p.P1470S|EP400_ENST00000389561.2_Missense_Mutation_p.P1470S Q96L91 EP400_HUMAN E1A binding protein p400 1506 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity 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) TCGAGGACGGCCGCCCATCGC 0.642000 4 96 0 0 1 0 0 NPM3 10360 broad.mit.edu 37 10 103542039 103542039 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr10:103542039G>A ENST00000370110.5 - 4 416 c.394C>T c.(394-396)Cgg>Tgg p.R132W NPM3_ENST00000474993.1_5'UTR NM_006993.2 NP_008924.1 O75607 NPM3_HUMAN nucleophosmin/nucleoplasmin 3 132 nucleic acid binding large_intestine(3)|lung(1)|skin(1) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) CCAGTGATCCGCACAGGGCCA 0.617000 3 35 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37187536 37187536 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr5:37187536C>G ENST00000274258.7 - 23 4290 c.703G>C c.(703-705)Gaa>Caa p.E235Q C5orf42_ENST00000508244.1_Missense_Mutation_p.E1354Q|C5orf42_ENST00000425232.2_Missense_Mutation_p.E1354Q E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1354 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GGTGGCAGTTCTCCAATAAGG 0.338000 6 69 0 0 1 0 0 PLS1 5357 broad.mit.edu 37 3 142430410 142430410 + Missense_Mutation SNP G G A rs146341428 TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:142430410G>A ENST00000337777.3 + 15 1910 c.1697G>A c.(1696-1698)cGt>cAt p.R566H PLS1_ENST00000457734.2_Missense_Mutation_p.R566H|PLS1_ENST00000497002.1_Missense_Mutation_p.R566H NM_002670.2 NP_002661.2 Q14651 PLSI_HUMAN plastin 1 566 Actin-binding 2.|CH 4. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 AATGCAGTTCGTCAAGAAATG 0.333000 18 79 0 0 1 0 0 CCDC172 374355 broad.mit.edu 37 10 118101575 118101575 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr10:118101575G>A ENST00000333254.3 + 5 561 c.310G>A c.(310-312)Gag>Aag p.E104K CCDC172_ENST00000497093.1_3'UTR NM_198515.2 NP_940917.1 coiled-coil domain containing 172 AATGATAGAGGAGGAAGACAA 0.234000 15 70 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50959895 50959895 + Missense_Mutation SNP C C A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr10:50959895C>A ENST00000374103.4 - 6 812 c.727G>T c.(727-729)Gcc>Tcc p.A243S OGDHL_ENST00000432695.1_Missense_Mutation_p.A34S|OGDHL_ENST00000419399.1_Missense_Mutation_p.A186S NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 243 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 ACTAGCCGGGCCAGCAGGGTC 0.607000 21 96 2.27731e-05 2.34722e-05 1 1 0 CEP350 9857 broad.mit.edu 37 1 180053305 180053305 + Nonsense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:180053305C>T ENST00000367607.3 + 31 6695 c.6277C>T c.(6277-6279)Cag>Tag p.Q2093* NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2093 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TCTGATCAAGCAGTTAGAGGT 0.373000 3 10 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157551407 157551407 + Missense_Mutation SNP A A T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:157551407A>T ENST00000271532.1 - 7 1298 c.1163T>A c.(1162-1164)gTc>gAc p.V388D FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 388 integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TCCCGCGGCGACAAGGCCATC 0.572000 4 24 0 0 1 0 0 VSIG4 11326 broad.mit.edu 37 X 65252479 65252479 + Silent SNP A A G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:65252479A>G ENST00000455586.2 - 3 651 c.525T>C c.(523-525)taT>taC p.Y175Y VSIG4_ENST00000412866.2_Intron|VSIG4_ENST00000374737.4_Silent_p.Y175Y NM_001184830.1 NP_001171759.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 175 Ig-like 2. complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TATACCAAATATAACTGATGG 0.512000 6 66 0 0 1 0 0 PPTC7 160760 broad.mit.edu 37 12 110977654 110977654 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr12:110977654C>T ENST00000354300.3 - 4 987 c.699G>A c.(697-699)atG>atA p.M233I NM_139283.1 NP_644812.1 Q8NI37 PPTC7_HUMAN PTC7 protein phosphatase homolog (S. cerevisiae) 233 PP2C-like. metal ion binding|phosphoprotein phosphatase activity endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 9 CCTGAAGAATCATATAATCAG 0.433000 9 67 0 0 1 0 0 HHLA3 11147 broad.mit.edu 37 1 70820689 70820689 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:70820689G>A ENST00000359875.5 + 1 195 c.55G>A c.(55-57)Gca>Aca p.A19T HHLA3_ENST00000370940.5_Missense_Mutation_p.A19T|HHLA3_ENST00000486110.1_3'UTR|HHLA3_ENST00000432224.1_Missense_Mutation_p.A19T|HHLA3_ENST00000361764.4_Missense_Mutation_p.A19T|HHLA3_ENST00000531950.1_Missense_Mutation_p.A19T NM_001036645.1 NP_001031722.1 Q9XRX5 HHLA3_HUMAN HERV-H LTR-associating 3 19 protein binding large_intestine(3)|lung(1) 4 TGAGCCTCCCGCAGAGGAATG 0.522000 11 25 0 0 1 0 0 COL6A2 1292 broad.mit.edu 37 21 47535818 47535818 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr21:47535818G>A ENST00000300527.4 + 6 938 c.834G>A c.(832-834)gaG>gaA p.E278E COL6A2_ENST00000310645.5_Silent_p.E278E|COL6A2_ENST00000397763.1_Silent_p.E278E|COL6A2_ENST00000357838.4_Silent_p.E278E|COL6A2_ENST00000409416.1_Silent_p.E278E NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 278 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) AGCCGGGAGAGCCTGGCCAGA 0.657000 9 33 0 0 1 0 0 BCAR3 8412 broad.mit.edu 37 1 94033378 94033378 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:94033378G>A ENST00000370244.1 - 12 2293 c.2005C>T c.(2005-2007)Ctg>Ttg p.L669L BCAR3_ENST00000370243.1_Silent_p.L669L|BCAR3_ENST00000370247.3_Silent_p.L578L|BCAR3_ENST00000539242.1_Silent_p.L345L|BCAR3_ENST00000260502.6_Silent_p.L669L NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 669 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) TGGTGCCGCAGAGCAGTCCAC 0.488000 8 71 0 0 1 0 0 AGBL5 60509 broad.mit.edu 37 2 27278919 27278919 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr2:27278919C>T ENST00000360131.4 + 7 1437 c.1278C>T c.(1276-1278)ggC>ggT p.G426G AGBL5_ENST00000323064.8_Silent_p.G426G NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 426 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGAGAGTGGCGTTGCTTACT 0.522000 54 204 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180044257 180044257 + Missense_Mutation SNP C C A rs148196085 byFrequency TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:180044257C>A ENST00000367607.3 + 28 6086 c.5668C>A c.(5668-5670)Cgt>Agt p.R1890S NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1890 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 AGCAGAAATTCGTCAAATGGA 0.438000 7 23 0.0381472 0.0383103 1 1 0 GPX1 2876 broad.mit.edu 37 3 49394958 49394958 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:49394958C>T ENST00000419783.1 - 2 796 c.475G>A c.(475-477)Gat>Aat p.D159N GPX1_ENST00000419349.1_3'UTR NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 159 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CAGGCAACATCGTTGCGACAC 0.627000 12 48 0 0 1 0 0 SFTPA1 653509 broad.mit.edu 37 10 81371740 81371740 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr10:81371740C>T ENST00000398636.3 + 3 297 c.159C>T c.(157-159)gaC>gaT p.D53D SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000372308.3_Silent_p.D53D|SFTPA1_ENST00000419470.2_Silent_p.D68D|SFTPA1_ENST00000428376.2_Silent_p.D53D NM_001164644.1|NM_001164646.1|NM_005411.4 NP_001158116.1|NP_001158118.1|NP_005402.3 Q8IWL2 SFTA1_HUMAN surfactant protein A1 53 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) TCAAAGGAGACCCTGGCCCTC 0.637000 12 44 0 0 1 0 0 C11orf35 256329 broad.mit.edu 37 11 557947 557947 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr11:557947G>A ENST00000329451.3 - 5 554 c.492C>T c.(490-492)ctC>ctT p.L164L RP11-496I9.1_ENST00000527620.1_RNA NM_173573.2 NP_775844.2 Q8IXW0 CK035_HUMAN chromosome 11 open reading frame 35 164 NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCAGCTGCAGGAGGCAGGACT 0.677000 5 22 0 0 1 0 0 STARD6 147323 broad.mit.edu 37 18 51851063 51851063 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr18:51851063C>T ENST00000581310.1 - 9 1035 c.662G>A c.(661-663)tGa>tAa p.*221* STARD6_ENST00000307844.3_Silent_p.*221*|STARD6_ENST00000580990.2_Silent_p.*97* P59095 STAR6_HUMAN StAR-related lipid transfer (START) domain containing 6 0 lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) CTTTTGGTATCATGAATGACT 0.348000 20 86 0 0 1 0 0 ZNF276 92822 broad.mit.edu 37 16 89804288 89804288 + Nonsense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr16:89804288C>T ENST00000289816.5 + 10 1636 c.1324C>T c.(1324-1326)Cga>Tga p.R442* ZNF276_ENST00000443381.2_Nonsense_Mutation_p.R517*|ZNF276_ENST00000446326.2_Nonsense_Mutation_p.R303*|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000568064.1_Nonsense_Mutation_p.R425* NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CCACCAAATGCGACATTCGGG 0.572000 13 66 0 0 1 0 0 DEF8 54849 broad.mit.edu 37 16 90020771 90020771 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr16:90020771C>T ENST00000563594.1 + 3 1108 c.111C>T c.(109-111)gaC>gaT p.D37D DEF8_ENST00000563795.1_Silent_p.D37D|DEF8_ENST00000570182.1_Silent_p.D37D|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000569453.1_Silent_p.D37D|DEF8_ENST00000268676.7_Silent_p.D98D|DEF8_ENST00000418391.2_Silent_p.D37D NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 98 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) AGGTCCCGGACGTCACTCCTG 0.647000 8 57 0 0 1 0 0 SMC5 23137 broad.mit.edu 37 9 72962884 72962884 + Missense_Mutation SNP A A T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr9:72962884A>T ENST00000361138.5 + 22 2877 c.2819A>T c.(2818-2820)aAt>aTt p.N940I SMC5_ENST00000471372.1_3'UTR NM_015110.3 NP_055925.2 Q8IY18 SMC5_HUMAN structural maintenance of chromosomes 5 940 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 GAAAAAATTAATGAAAAATTC 0.274000 11 53 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223983857 223983857 + Missense_Mutation SNP T T C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:223983857T>C ENST00000391878.2 - 14 2765 c.1997A>G c.(1996-1998)aAt>aGt p.N666S TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Missense_Mutation_p.N28S|TP53BP2_ENST00000343537.7_Missense_Mutation_p.N795S NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 789 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) TAAATATGGATTCTGGATTTC 0.512000 22 105 0 0 1 0 0 VEGFB 7423 broad.mit.edu 37 11 64003411 64003411 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr11:64003411G>A ENST00000309422.2 + 3 526 c.230G>A c.(229-231)cGc>cAc p.R77H VEGFB_ENST00000426086.2_Missense_Mutation_p.R77H NM_001243733.1|NM_003377.4 NP_001230662.1|NP_003368.1 P49765 VEGFB_HUMAN vascular endothelial growth factor B 77 anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway extracellular region|extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding endometrium(2)|large_intestine(2)|prostate(1)|stomach(1) 6 ACTGTGCAGCGCTGTGGTGGC 0.682000 7 22 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70603878 70603878 + Missense_Mutation SNP C C A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:70603878C>A ENST00000449580.1 + 13 2062 c.2011C>A c.(2011-2013)Ctc>Atc p.L671I TAF1_ENST00000423759.1_Missense_Mutation_p.L692I|TAF1_ENST00000276072.3_Missense_Mutation_p.L692I|TAF1_ENST00000373790.4_Missense_Mutation_p.L671I P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 671 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) ACCTCAGGACCTCACAGGCAA 0.428000 11 128 0.000673444 0.000688084 1 1 0 PADI3 51702 broad.mit.edu 37 1 17586195 17586195 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:17586195C>T ENST00000375460.3 + 2 255 c.215C>T c.(214-216)gCg>gTg p.A72V NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 72 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CGCTTTGACGCGACTTTGGAG 0.597000 17 51 0 0 1 0 0 LTB 4050 broad.mit.edu 37 6 31548884 31548884 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr6:31548884G>A ENST00000429299.2 - 4 344 c.337C>T c.(337-339)Ctg>Ttg p.L113L LTB_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_3'UTR NM_002341.1 NP_002332.1 Q06643 TNFC_HUMAN lymphotoxin beta (TNF superfamily, member 3) 113 cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 9 Infliximab(DB00065)|Simvastatin(DB00641) CCGCTCGTCAGAAACGCCTGT 0.682000 22 27 0 0 1 0 0 LGALS2 3957 broad.mit.edu 37 22 37967898 37967898 + Nonsense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr22:37967898G>C ENST00000215886.4 - 2 221 c.47C>G c.(46-48)tCa>tGa p.S16* NM_006498.2 NP_006489.1 P05162 LEG2_HUMAN lectin, galactoside-binding, soluble, 2 16 Galectin. breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1) 11 Melanoma(58;0.0574) CTTCAGGGTTGACCCCGGCTT 0.572000 18 74 0 0 1 0 0 LRRTM3 347731 broad.mit.edu 37 10 68688010 68688010 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr10:68688010C>T ENST00000361320.4 + 2 1914 c.1336C>T c.(1336-1338)Cct>Tct p.P446S CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 446 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 GAAGCGGTACCCTGCGAGCAT 0.537000 30 80 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25007085 25007085 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr22:25007085G>A ENST00000400382.1 + 5 792 c.37G>A c.(37-39)Gtg>Atg p.V13M GGT1_ENST00000406383.2_Missense_Mutation_p.V13M|GGT1_ENST00000400380.1_Missense_Mutation_p.V13M|GGT1_ENST00000248923.4_Missense_Mutation_p.V13M|GGT1_ENST00000400383.1_Missense_Mutation_p.V13M P19440 GGT1_HUMAN gamma-glutamyltransferase 1 13 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) CCTGCTGGCCGTGGTCCTGGT 0.627000 4 14 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62193700 62193700 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr20:62193700G>A ENST00000467148.1 - 9 6407 c.6338C>T c.(6337-6339)gCg>gTg p.A2113V HELZ2_ENST00000427522.2_Missense_Mutation_p.A1544V NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CAGCGGGGACGCCTCCTCTAG 0.677000 4 9 0 0 1 0 0 MED10 84246 broad.mit.edu 37 5 6374523 6374523 + Silent SNP G G T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr5:6374523G>T ENST00000255764.3 - 3 333 c.223C>A c.(223-225)Cga>Aga p.R75R NM_032286.2 NP_115662.2 Q9BTT4 MED10_HUMAN mediator complex subunit 10 75 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 TGGGGATTTCGACCTTGATCT 0.423000 9 120 1.05317e-09 1.11484e-09 1 1 0 HMCN1 83872 broad.mit.edu 37 1 186106782 186106782 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:186106782C>G ENST00000271588.4 + 88 13964 c.13735C>G c.(13735-13737)Caa>Gaa p.Q4579E HMCN1_ENST00000367492.2_Missense_Mutation_p.Q4579E NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4579 TSP type-1 1. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GCGAAACTGTCAAAATAAGCC 0.458000 9 48 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42605836 42605836 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr22:42605836G>A ENST00000359486.3 - 1 5612 c.5476C>T c.(5476-5478)Ccc>Tcc p.P1826S TCF20_ENST00000404876.1_Missense_Mutation_p.P127S|TCF20_ENST00000335626.4_Missense_Mutation_p.P1826S NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1826 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGCACGGAGGGCTTCGAGTCC 0.542000 8 199 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8993422 8993422 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr19:8993422G>A ENST00000397910.4 - 66 41870 c.41667C>T c.(41665-41667)atC>atT p.I13889I MUC16_ENST00000380951.5_Silent_p.I530I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13892 SEA 12. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCAGCTCAGTGATGCTGTGGG 0.592000 23 172 0 0 1 0 0 PRKACA 5566 broad.mit.edu 37 19 14217608 14217608 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr19:14217608C>T ENST00000308677.4 - 3 397 c.201G>A c.(199-201)ggG>ggA p.G67G PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.G59G|PRKACA_ENST00000350356.3_5'UTR NM_002730.3 NP_002721.1 P17612 KAPCA_HUMAN protein kinase, cAMP-dependent, catalytic, alpha 67 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 CATAGTGGTTCCCGGTCTCCT 0.592000 6 84 0 0 1 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33391282 33391282 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr6:33391282C>T ENST00000418600.2 + 2 197 c.96C>T c.(94-96)acC>acT p.T32T SYNGAP1_ENST00000293748.5_Silent_p.T32T|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 32 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TGCACCGAACCCAATACGTTC 0.527000 13 203 0 0 1 0 0 METTL17 64745 broad.mit.edu 37 14 21460779 21460779 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr14:21460779G>A ENST00000339374.6 + 5 759 c.526G>A c.(526-528)Gag>Aag p.E176K METTL17_ENST00000382985.4_Missense_Mutation_p.E176K|METTL17_ENST00000556670.2_Missense_Mutation_p.E176K NM_001029991.1|NM_022734.2 NP_001025162.1|NP_073571.1 Q9H7H0 MET17_HUMAN methyltransferase like 17 176 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 AGCATTCCATGAGGTGAAAGT 0.453000 12 50 0 0 1 0 0 RING1 6015 broad.mit.edu 37 6 33176605 33176605 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr6:33176605G>A ENST00000374656.4 + 2 214 c.6G>A c.(4-6)acG>acA p.T2T NM_002931.3 NP_002922.2 Q06587 RING1_HUMAN ring finger protein 1 2 histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4) 17 TCACCATGACGACGCCGGCGA 0.652000 4 26 0 0 1 0 0 HTR1D 3352 broad.mit.edu 37 1 23520183 23520183 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:23520183C>T ENST00000374619.1 - 1 1039 c.530G>A c.(529-531)cGg>cAg p.R177Q HTR1D_ENST00000314113.3_Missense_Mutation_p.R177Q NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 177 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity p.R177Q(1) NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) CTTGGCCTGCCGCCAGAAGAG 0.597000 9 39 0 0 1 0 0 LRRC61 65999 broad.mit.edu 37 7 150034380 150034380 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr7:150034380C>G ENST00000359623.4 + 3 1018 c.430C>G c.(430-432)Ccc>Gcc p.P144A LRRC61_ENST00000493307.1_Missense_Mutation_p.P144A|LRRC61_ENST00000323078.7_Missense_Mutation_p.P144A NM_001142928.1 NP_001136400.1 Q9BV99 LRC61_HUMAN leucine rich repeat containing 61 144 LRRCT. endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) CTGTGCCAACCCCTCCTACTG 0.657000 4 29 0 0 1 0 0 STOX1 219736 broad.mit.edu 37 10 70645099 70645099 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr10:70645099C>T ENST00000298596.6 + 3 1630 c.1547C>T c.(1546-1548)aCg>aTg p.T516M STOX1_ENST00000399169.4_Missense_Mutation_p.T516M|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.T406M NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 516 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 ATTCAGAAGACGAGTGATCTG 0.438000 6 58 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70926267 70926267 + Missense_Mutation SNP T T C rs78717717 TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr14:70926267T>C ENST00000603540.1 + 2 2309 c.2051T>C c.(2050-2052)tTg>tCg p.L684S ADAM21_ENST00000267499.3_Missense_Mutation_p.L684S|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 684 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GGAGTTTTTTTGCCGCTGATT 0.488000 7 58 0 0 1 0 0 CYP7B1 9420 broad.mit.edu 37 8 65537090 65537090 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr8:65537090G>A ENST00000310193.3 - 2 302 c.129C>T c.(127-129)ccC>ccT p.P43P NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 43 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity p.P43P(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) GAGGCTCACCGGGTCTCCTAC 0.363000 17 122 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14798948 14798948 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:14798948C>T ENST00000253697.3 + 13 2463 c.2011C>T c.(2011-2013)Cgg>Tgg p.R671W C3orf20_ENST00000435614.1_Missense_Mutation_p.R549W|C3orf20_ENST00000412910.1_Missense_Mutation_p.R549W NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 671 cytoplasm|integral to membrane p.R671W(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 GCTGGTGCTGCGGAAGCTCAT 0.682000 12 51 0 0 1 0 0 FAM83H 286077 broad.mit.edu 37 8 144808407 144808407 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr8:144808407G>A ENST00000388913.3 - 5 3349 c.3224C>T c.(3223-3225)cCg>cTg p.P1075L NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 1075 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCCAGCAGCCGGTGGACGGCC 0.687000 4 29 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17616845 17616845 + Missense_Mutation SNP G G T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr6:17616845G>T ENST00000262077.2 - 21 4255 c.4256C>A c.(4255-4257)gCa>gAa p.A1419E NUP153_ENST00000537253.1_Missense_Mutation_p.A1450E NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 1419 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) GCTAGAATTTGCACCAAATGT 0.473000 9 90 9.70103e-10 1.03156e-09 1 1 0 CHAF1A 10036 broad.mit.edu 37 19 4423824 4423824 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr19:4423824G>A ENST00000301280.5 + 7 1431 c.1330G>A c.(1330-1332)Gaa>Aaa p.E444K NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 444 Arg/Glu/Lys-rich. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) AGAGAAGGCCGAAATCACGAG 0.498000 Chromatin Structure 4 94 0 0 1 0 0 KBTBD3 143879 broad.mit.edu 37 11 105924819 105924819 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr11:105924819C>G ENST00000526793.1 - 3 756 c.597G>C c.(595-597)caG>caC p.Q199H KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q199H|KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q120H NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 195 BACK. NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) CCAGACATTTCTGTAGTACTC 0.323000 13 63 0 0 1 0 0 SETD3 84193 broad.mit.edu 37 14 99866585 99866585 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr14:99866585C>G ENST00000331768.5 - 12 1348 c.1189G>C c.(1189-1191)Gaa>Caa p.E397Q NM_032233.2 NP_115609.2 Q86TU7 SETD3_HUMAN SET domain containing 3 397 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) AGCAAGTGTTCTTTCAGTTCT 0.403000 11 123 0 0 1 0 0 ZNF510 22869 broad.mit.edu 37 9 99521743 99521743 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr9:99521743C>T ENST00000375231.1 - 6 2019 c.1369G>A c.(1369-1371)Gaa>Aaa p.E457K ZNF510_ENST00000223428.4_Missense_Mutation_p.E457K Q9Y2H8 ZN510_HUMAN zinc finger protein 510 457 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) TAGGGTTTTTCTGCTGTATGA 0.393000 14 126 0 0 1 0 0 EFTUD2 9343 broad.mit.edu 37 17 42940217 42940217 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr17:42940217G>A ENST00000426333.2 - 16 1768 c.1471C>T c.(1471-1473)Cac>Tac p.H491Y EFTUD2_ENST00000402521.3_Missense_Mutation_p.H456Y|EFTUD2_ENST00000592576.1_Missense_Mutation_p.H481Y|EFTUD2_ENST00000591382.1_Missense_Mutation_p.H491Y NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 491 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) CCAAAGGCGTGAAACTGGACT 0.562000 16 43 0 0 1 0 0 CD84 8832 broad.mit.edu 37 1 160535272 160535272 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:160535272C>T ENST00000368054.3 - 2 345 c.310G>A c.(310-312)Gca>Aca p.A104T CD84_ENST00000311224.4_Missense_Mutation_p.A104T|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Missense_Mutation_p.A104T|CD84_ENST00000534968.1_Intron|CD84_ENST00000368048.3_Missense_Mutation_p.A104T|CD84_ENST00000368047.3_5'UTR NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 104 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity p.A104T(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TAGTCTCCTGCGTCTTCCATC 0.468000 65 222 0 0 1 0 0 LRRC10 376132 broad.mit.edu 37 12 70004328 70004328 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr12:70004328C>G ENST00000361484.3 - 1 614 c.291G>C c.(289-291)ttG>ttC p.L97F NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 97 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) AGAGCTGTTTCAAGGTGCACA 0.572000 14 148 0 0 1 0 0 HMGCS1 3157 broad.mit.edu 37 5 43298225 43298225 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr5:43298225G>A ENST00000325110.6 - 4 666 c.460C>T c.(460-462)Ctg>Ttg p.L154L HMGCS1_ENST00000433297.2_Silent_p.L154L NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 154 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 GCAACTACCAGGGCATACCGT 0.403000 14 54 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1730384 1730384 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr4:1730384G>A ENST00000313288.4 + 4 1361 c.1255G>A c.(1255-1257)Gga>Aga p.G419R NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 419 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) CATCCCGTTCGGAGGTGACAC 0.627000 20 93 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160969656 160969656 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr6:160969656G>A ENST00000447678.1 - 32 5129 c.5009C>T c.(5008-5010)gCc>gTc p.A1670V LPA_ENST00000316300.5_Missense_Mutation_p.A1670V NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4178 Kringle 15. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GCCTGTATCGGCATCTGGATT 0.522000 19 98 0 0 1 0 0 SLC13A5 284111 broad.mit.edu 37 17 6610395 6610395 + Silent SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr17:6610395G>C ENST00000433363.2 - 2 416 c.183C>G c.(181-183)ctC>ctG p.L61L SLC13A5_ENST00000381074.4_Intron|SLC13A5_ENST00000573648.1_Silent_p.L61L|SLC13A5_ENST00000293800.6_Silent_p.L61L NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 61 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 AGACAGGCATGAGAGAGGTGA 0.527000 12 43 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 55 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204438850 204438850 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:204438850G>A ENST00000367187.3 - 3 637 c.81C>T c.(79-81)gcC>gcT p.A27A PIK3C2B_ENST00000424712.2_Silent_p.A27A NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 27 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GCAGGGCTTCGGCCATCGCTA 0.597000 14 60 0 0 1 0 0 NETO2 81831 broad.mit.edu 37 16 47117201 47117201 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr16:47117201C>T ENST00000562435.1 - 9 1893 c.1509G>A c.(1507-1509)gaG>gaA p.E503E NETO2_ENST00000303155.5_Silent_p.E496E NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 503 integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) CACAGGGAATCTCCTCCATTA 0.428000 HNSCC(25;0.065) 15 120 0 0 1 0 0 OR2C3 81472 broad.mit.edu 37 1 247694861 247694861 + Missense_Mutation SNP G G A rs147306837 TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:247694861G>A ENST00000366487.3 - 2 1314 c.953C>T c.(952-954)gCg>gTg p.A318V GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 318 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A317V(1) breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CTAAATTTGCGCCAGCTTGCC 0.512000 17 67 0 0 1 0 0 OR2F2 135948 broad.mit.edu 37 7 143633211 143633211 + Missense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr7:143633211G>C ENST00000408955.2 + 1 953 c.886G>C c.(886-888)Gag>Cag p.E296Q NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) AAGGAATAAAGAGGTGAAGGG 0.433000 18 55 0 0 1 0 0 ZFR 51663 broad.mit.edu 37 5 32390475 32390475 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr5:32390475C>T ENST00000265069.8 - 12 2150 c.2048G>A c.(2047-2049)cGa>cAa p.R683Q NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 683 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) ATCTGGCATTCGGCGGCGATC 0.507000 27 73 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31621561 31621561 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr2:31621561C>G ENST00000379416.3 - 5 359 c.311G>C c.(310-312)aGa>aCa p.R104T NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 104 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TTTGGCAATTCTCTCCTAAAA 0.557000 29 117 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10610576 10610576 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr19:10610576G>A ENST00000171111.5 - 2 681 c.134C>T c.(133-135)tCc>tTc p.S45F KEAP1_ENST00000393623.2_Missense_Mutation_p.S45F NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GCCATGCTGGGAGGGCGTCAC 0.637000 7 112 0 0 1 0 0 MED16 10025 broad.mit.edu 37 19 879973 879973 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr19:879973C>T ENST00000312090.6 - 8 1467 c.1317G>A c.(1315-1317)acG>acA p.T439T MED16_ENST00000589119.1_Silent_p.T439T|MED16_ENST00000395808.3_Silent_p.T439T|MED16_ENST00000325464.1_Silent_p.T439T|MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Silent_p.T439T Q9Y2X0 MED16_HUMAN mediator complex subunit 16 439 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCCAGTGACGTCCACGATA 0.692000 5 11 0 0 1 0 0 NXF4 55999 broad.mit.edu 37 X 101821949 101821949 + RNA SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:101821949C>T ENST00000360035.2 + 0 1702 NR_002216.1 endometrium(2)|lung(8) 10 TGCATCCAAACGGTGAGCACC 0.498000 9 23 0 0 1 0 0 FETUB 26998 broad.mit.edu 37 3 186364068 186364068 + Missense_Mutation SNP A A G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:186364068A>G ENST00000265029.3 + 5 727 c.626A>G c.(625-627)tAc>tGc p.Y209C FETUB_ENST00000382134.3_Missense_Mutation_p.Y144C|FETUB_ENST00000382136.3_Missense_Mutation_p.Y172C|FETUB_ENST00000539949.1_Missense_Mutation_p.Y61C|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.Y209C NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 209 Cystatin fetuin-B-type 2. extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) TTTGTGGAATACTTAATTAAA 0.423000 38 169 0 0 1 0 0 ACVR2B 93 broad.mit.edu 37 3 38524631 38524631 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:38524631C>T ENST00000352511.3 + 11 1819 c.1347C>T c.(1345-1347)ggC>ggT p.G449G NM_001106.3 NP_001097.2 Q13705 AVR2B_HUMAN activin A receptor, type IIB 449 Protein kinase. activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent cell surface|cytoplasm|integral to plasma membrane activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity lung(1) 1 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071) CTGCTTAGGGCCTGGCCCAGC 0.557000 5 187 0 0 1 0 0 TRMT2B 79979 broad.mit.edu 37 X 100274273 100274273 + Splice_Site SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:100274273G>A ENST00000338687.7 - 11 1958 c.1153_splice c.e11+1 p.H385_splice TRMT2B_ENST00000372936.3_Splice_Site_p.H430_splice|TRMT2B_ENST00000372939.1_Splice_Site_p.H385_splice|TRMT2B_ENST00000372935.1_Splice_Site_p.H430_splice|TRMT2B_ENST00000545398.1_Splice_Site_p.H430_splice|TRMT2B_ENST00000372931.5_Splice_Site_p.H430_splice Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 430 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 TCATCCTTACGCAGTCCGGCA 0.498000 10 82 0 0 1 0 0 CLN6 54982 broad.mit.edu 37 15 68506654 68506654 + Missense_Mutation SNP C C T rs140519790 by1000genomes TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr15:68506654C>T ENST00000249806.5 - 3 428 c.271G>A c.(271-273)Gtc>Atc p.V91I CLN6_ENST00000565471.1_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000418702.2_Silent_p.T56T|CLN6_ENST00000538696.1_Missense_Mutation_p.V123I|CLN6_ENST00000564752.1_Missense_Mutation_p.V91I|CLN6_ENST00000566347.1_Missense_Mutation_p.V91I NM_017882.2 NP_060352.1 Q9NWW5 CLN6_HUMAN ceroid-lipofuscinosis, neuronal 6, late infantile, variant 91 cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane protein homodimerization activity large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GGCGTGATGACGTTGTAGGCC 0.547000 12 42 0 0 1 0 0 UBQLN2 29978 broad.mit.edu 37 X 56590909 56590909 + Missense_Mutation SNP G G T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:56590909G>T ENST00000338222.5 + 1 884 c.603G>T c.(601-603)atG>atT p.M201I NM_013444.3 NP_038472.2 Q9UHD9 UBQL2_HUMAN ubiquilin 2 201 cytoplasm|nucleus|plasma membrane binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1) 21 CCGATCTGATGAGGCAGCTCA 0.468000 12 81 7.03913e-09 7.41791e-09 1 1 0 METTL2B 55798 broad.mit.edu 37 7 128119373 128119373 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr7:128119373G>A ENST00000480046.1 + 2 284 c.169G>A c.(169-171)Gaa>Aaa p.E57K METTL2B_ENST00000262432.8_Missense_Mutation_p.E122K Q6P1Q9 MTL2B_HUMAN methyltransferase like 2B 122 methyltransferase activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GAACAAGAGTGAAGTATGTGA 0.398000 14 83 0 0 1 0 0 IGHV3-11 28450 broad.mit.edu 37 14 106573465 106573465 + RNA SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr14:106573465G>A ENST00000390601.2 - 0 238 GGCTGCACAGGAGAGTCTCAG 0.557000 45 204 0 0 1 0 0 SLC9B2 133308 broad.mit.edu 37 4 103988644 103988644 + Missense_Mutation SNP T T C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr4:103988644T>C ENST00000394785.3 - 2 695 c.64A>G c.(64-66)Acg>Gcg p.T22A SLC9B2_ENST00000503103.1_Missense_Mutation_p.T22A|SLC9B2_ENST00000362026.3_Missense_Mutation_p.T22A|SLC9B2_ENST00000503230.1_Missense_Mutation_p.T22A|SLC9B2_ENST00000339611.4_Missense_Mutation_p.T22A|SLC9B2_ENST00000505838.1_5'UTR NM_178833.4 NP_849155.2 Q86UD5 NHDC2_HUMAN solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 22 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity ATGGAGGGCGTGTAATTCATT 0.368000 16 85 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371619 240371619 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:240371619C>T ENST00000319653.9 + 5 3737 c.3507C>T c.(3505-3507)ccC>ccT p.P1169P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1169 FH1.|Pro-rich. 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 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) CCCCTCTACCCGGAGCGGGCA 0.692000 3 13 0 0 1 0 0 PAH 5053 broad.mit.edu 37 12 103234269 103234269 + Silent SNP C C A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr12:103234269C>A ENST00000553106.1 - 12 1696 c.1224G>T c.(1222-1224)cgG>cgT p.R408R PAH_ENST00000307000.2_Silent_p.R403R NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 408 R -> Q (in PKU; haplotypes 4,12).|R -> W (in PKU; haplotypes 1,2,4,5,13,34, 41,44; most common mutation). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) CTGAGAAGGGCCGAGGTATTG 0.458000 16 68 1.52009e-12 1.64618e-12 1 1 0 TP53 7157 broad.mit.edu 37 17 7579369 7579369 + Missense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr17:7579369G>C ENST00000420246.2 - 4 450 c.318C>G c.(316-318)agC>agG p.S106R TP53_ENST00000269305.4_Missense_Mutation_p.S106R|TP53_ENST00000413465.2_Missense_Mutation_p.S106R|TP53_ENST00000359597.4_Missense_Mutation_p.S106R|TP53_ENST00000455263.2_Missense_Mutation_p.S106R|TP53_ENST00000445888.2_Missense_Mutation_p.S106R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 106 Interaction with HIPK1 (By similarity).|Interaction with WWOX. S -> G (in a sporadic cancer; somatic mutation).|S -> R (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.S106R(3)|p.V73fs*9(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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) GGAAACCGTAGCTGCCCTGGT 0.617000 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) 19 80 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151491225 151491225 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:151491225C>G ENST00000271636.7 + 2 363 c.230C>G c.(229-231)tCc>tGc p.S77C NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 71 Head. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GGCGGTGACTCCTTTGGGGTC 0.577000 9 52 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238245116 238245116 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr2:238245116G>A ENST00000295550.4 - 40 9079 c.8627C>T c.(8626-8628)cCg>cTg p.P2876L COL6A3_ENST00000472056.1_Missense_Mutation_p.P2269L|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2676L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2670L|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2670L|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2675L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2876 Nonhelical region.|Thr-rich. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CGTAGTCACCGGCTTCGTTGT 0.448000 58 143 0 0 1 0 0 LRRC8C 84230 broad.mit.edu 37 1 90179377 90179377 + Missense_Mutation SNP G G C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:90179377G>C ENST00000370454.4 + 3 1503 c.1248G>C c.(1246-1248)caG>caC p.Q416H LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron NM_032270.4 NP_115646.2 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 416 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) AACTGAGGCAGAAGCTACAGA 0.403000 11 83 0 0 1 0 0 SIMC1 375484 broad.mit.edu 37 5 175763877 175763877 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr5:175763877C>G ENST00000443967.1 + 10 2676 c.2269C>G c.(2269-2271)Cag>Gag p.Q757E SIMC1_ENST00000341199.6_Missense_Mutation_p.Q342E|SIMC1_ENST00000332772.4_Missense_Mutation_p.Q218E|SIMC1_ENST00000430704.2_Missense_Mutation_p.Q342E SUMO-interacting motifs containing 1 GCTCAAGTGTCAGGTACATTT 0.488000 5 43 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56712917 56712917 + Nonsense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr12:56712917G>A ENST00000425394.2 - 24 3707 c.3331C>T c.(3331-3333)Cga>Tga p.R1111* PAN2_ENST00000549090.1_Intron|PAN2_ENST00000548043.1_Nonsense_Mutation_p.R1111*|PAN2_ENST00000440411.3_Nonsense_Mutation_p.R1107*|PAN2_ENST00000257931.5_Nonsense_Mutation_p.R1110* NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 1111 Exonuclease. 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 ATTCGTTTTCGGGGCATATGG 0.498000 29 54 0 0 1 0 0 SCLT1 132320 broad.mit.edu 37 4 129924970 129924970 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr4:129924970C>G ENST00000281142.5 - 6 855 c.352G>C c.(352-354)Gag>Cag p.E118Q SCLT1_ENST00000434680.1_Missense_Mutation_p.E118Q|SCLT1_ENST00000503215.1_Missense_Mutation_p.E95Q|SCLT1_ENST00000439369.2_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 118 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 GTTCCTACCTCTGTGCCCAGG 0.368000 15 89 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48704104 48704104 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr17:48704104G>A ENST00000352832.5 + 34 7117 c.6745G>A c.(6745-6747)Gac>Aac p.D2249N CACNA1G_ENST00000505165.1_Missense_Mutation_p.D2204N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D2283N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D2290N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D2249N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D2238N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D2242N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D2286N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D2265N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D2272N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D2193N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D2376N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D2170N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D2342N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D2320N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D2231N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D2313N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D2305N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D2297N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D2226N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D2260N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D2276N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D2331N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D2365N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D2258N NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 2376 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGCAGACCTGGACCCCTGAGT 0.572000 OREG0024569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 87 0 0 1 0 0 ZNF157 7712 broad.mit.edu 37 X 47272087 47272087 + Silent SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chrX:47272087C>T ENST00000377073.3 + 4 701 c.615C>T c.(613-615)ctC>ctT p.L205L NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 205 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 GATCATACCTCATTGCTCATC 0.428000 4 37 0 0 1 0 0 BCO2 83875 broad.mit.edu 37 11 112064603 112064603 + Splice_Site SNP C C A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr11:112064603C>A ENST00000357685.5 + 4 654 c.517_splice c.e4-1 p.A173_splice BCO2_ENST00000531169.1_Splice_Site_p.A139_splice|BCO2_ENST00000393032.2_Splice_Site_p.A139_splice|BCO2_ENST00000361053.4_Intron|BCO2_ENST00000438022.1_Splice_Site_p.A139_splice|BCO2_ENST00000526088.1_Splice_Site_p.A139_splice|SDHD_ENST00000532612.1_Intron|BCO2_ENST00000532593.1_Splice_Site_p.A68_splice Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 173 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 TGGTTTCAGCCATGACTGACA 0.423000 19 68 3.32936e-07 3.46194e-07 1 1 0 DUSP8 1850 broad.mit.edu 37 11 1586850 1586850 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr11:1586850G>A ENST00000397374.3 - 2 334 c.207C>T c.(205-207)ctC>ctT p.L69L DUSP8_ENST00000331588.4_Silent_p.L69L NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 69 Rhodanese. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) CCGGCTGGATGAGCTCCGCAA 0.642000 4 24 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76022129 76022129 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr6:76022129C>T ENST00000393004.2 - 5 3640 c.3419G>A c.(3418-3420)cGa>cAa p.R1140Q FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.R1140Q|FILIP1_ENST00000370020.1_Missense_Mutation_p.R1041Q Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1140 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CTGGGTTCCTCGAGCAGATGA 0.562000 31 153 0 0 1 0 0 KPNA4 3840 broad.mit.edu 37 3 160231914 160231914 + Missense_Mutation SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:160231914G>A ENST00000334256.4 - 13 1393 c.1088C>T c.(1087-1089)gCa>gTa p.A363V NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) 363 NLS binding site (minor) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) ATCAATTACTGCCTGTACCTG 0.363000 16 62 0 0 1 0 0 WDR76 79968 broad.mit.edu 37 15 44134857 44134857 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr15:44134857C>G ENST00000263795.6 + 7 936 c.866C>G c.(865-867)tCt>tGt p.S289C WDR76_ENST00000381246.2_Missense_Mutation_p.S225C NM_001167941.1|NM_024908.3 NP_001161413.1|NP_079184.2 Q9H967 WDR76_HUMAN WD repeat domain 76 289 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) AAGGGATTATCTAGCATTAAA 0.284000 OREG0003949 type=REGULATORY REGION|Gene=AK124169|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 19 71 0 0 1 0 0 TIPARP 25976 broad.mit.edu 37 3 156411951 156411951 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:156411951C>T ENST00000461166.1 + 3 1648 c.1060C>T c.(1060-1062)Cac>Tac p.H354Y TIPARP_ENST00000295924.7_Missense_Mutation_p.H354Y|TIPARP_ENST00000486483.1_Missense_Mutation_p.H354Y|TIPARP_ENST00000542783.1_Missense_Mutation_p.H354Y NM_001184717.1 NP_001171646.1 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 354 WWE. NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CTGTAGGGACCACTTTGGATG 0.373000 16 207 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121502758 121502758 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr8:121502758G>A ENST00000305949.1 + 13 1440 c.1395G>A c.(1393-1395)caG>caA p.Q465Q NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 465 cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) AGATTGTACAGAGAGAGAAAC 0.328000 7 70 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142285059 142285059 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:142285059C>T ENST00000350721.4 - 3 317 c.196G>A c.(196-198)Gtg>Atg p.V66M ATR_ENST00000383101.3_Missense_Mutation_p.V66M NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 66 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 AGCAACATCACGGAGGTTGGC 0.373000 Other conserved DNA damage response genes 15 79 0 0 1 0 0 POU5F2 134187 broad.mit.edu 37 5 93076292 93076292 + Silent SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr5:93076292G>A ENST00000510627.4 - 1 1051 c.978C>T c.(976-978)ctC>ctT p.L326L FAM172A_ENST00000395965.3_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron NM_153216.1 NP_694948.1 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 326 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) CCTAAAATCTGAGGAGGCCCA 0.582000 5 46 0 0 1 0 0 WDR77 79084 broad.mit.edu 37 1 111986017 111986018 + Splice_Site INS - - A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr1:111986017_111986018insA ENST00000235090.5 - 7 826 c.e7-1 WDR77_ENST00000411751.2_Splice_Site|WDR77_ENST00000497278.1_Splice_Site NM_024102.2 NP_077007.1 Q9BQA1 MEP50_HUMAN WD repeat domain 77 ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) GCACTGCAGCCTGCAAAGGAGA 0.475 2 4 --- --- --- --- CASP8 841 broad.mit.edu 37 2 202131358 202131359 + Frame_Shift_Del DEL AA AA - TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr2:202131358_202131359delAA ENST00000358485.4 + 2 522_523 c.326_327delAA c.(325-327)gfs p.E109fs CASP8_ENST00000264275.5_Frame_Shift_Del_p.E50fs|CASP8_ENST00000264274.9_Frame_Shift_Del_p.E50fs|CASP8_ENST00000432109.2_Frame_Shift_Del_p.E50fs|CASP8_ENST00000392258.3_Frame_Shift_Del_p.E50fs|CASP8_ENST00000392259.2_Frame_Shift_Del_p.E50fs|CASP8_ENST00000323492.7_Frame_Shift_Del_p.E50fs|CASP8_ENST00000392266.3_Frame_Shift_Del_p.E50fs NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 50 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 AGACTCCAGGAAAAGAGAATGT 0.460 HNSCC(4;0.00038) 16 48 --- --- --- --- PLXNA1 5361 broad.mit.edu 37 3 126751384 126751385 + In_Frame_Ins INS - - CCT TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr3:126751384_126751385insCCT ENST00000251772.4 + 29 5386_5387 c.5317_5318insCCT c.(5317-5319)ctc>CCTctc p.1773_1774insP PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000393409.2_In_Frame_Ins_p.1796_1797insP Q9UIW2 PLXA1_HUMAN plexin A1 1796 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity 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) CAAGGACTCACCCTCCAACAAG 0.624 22 81 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560458 147560466 + In_Frame_Del DEL GGCGGCGGC GGCGGCGGC - rs67907220 TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr4:147560458_147560466delGGCGGCGGC ENST00000281321.3 + 1 414_422 c.166_174delGGCGGCGGC c.(166-174)del p.GGG65del AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 65 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) CGCTggtggtggcggcggcggcggcggcg 0.761 4 8 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187539265 187539266 + Frame_Shift_Ins INS - - C TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr4:187539265_187539266insC ENST00000441802.2 - 10 8683_8684 c.8474_8475insG c.(8473-8475)gagfs p.E2825fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2825 Cadherin 26. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTACTCTACTTCCCCCTGGCAG 0.436 HNSCC(5;0.00058) 16 138 --- --- --- --- HLA-B 3106 broad.mit.edu 37 6 31323353 31323354 + Frame_Shift_Del DEL GT GT - rs45610732 byFrequency TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr6:31323353_31323354delGT ENST00000412585.2 - 4 663_664 c.635_636delAC c.(634-636)cfs p.H212fs NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 GGTGGGTCACGTGTGTCTTTGG 0.589 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 93 113 --- --- --- --- RELN 5649 broad.mit.edu 37 7 103629803 103629804 + Translation_Start_Site INS - - GCCGCC TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr7:103629803_103629804insGCCGCC ENST00000424685.2 - 0 159_160 RELN_ENST00000428762.1_Start_Codon_Ins|RELN_ENST00000343529.5_Start_Codon_Ins P78509 RELN_HUMAN reelin axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGCGCTCCATgccgccgccgc 0.723 5 8 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 7 15 --- --- --- --- C9orf106 414318 broad.mit.edu 37 9 132084723 132084731 + RNA DEL CCAGTTCTG CCAGTTCTG - TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr9:132084723_132084731delCCAGTTCTG ENST00000316786.1 + 0 684_692 Q8NAJ2 CI106_HUMAN chromosome 9 open reading frame 106 large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(14;0.00556)|Medulloblastoma(224;0.235) AAGAAAGTTCCCAGTTCTGCCTGTCCATC 0.565 12 57 --- --- --- --- PIK3C2G 5288 broad.mit.edu 37 12 18435201 18435202 + Frame_Shift_Ins INS - - T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr12:18435201_18435202insT ENST00000433979.1 + 2 302_303 c.186_187insT c.(184-189)acttttfs p.TF62fs PIK3C2G_ENST00000266497.5_Frame_Shift_Ins_p.TF62fs|PIK3C2G_ENST00000535651.1_Frame_Shift_Ins_p.TF62fs|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Frame_Shift_Ins_p.TF62fs NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 62 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) ATGAAAACACCTTTTTTGTGCC 0.406 17 83 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 11 287 --- --- --- --- XPOT 11260 broad.mit.edu 37 12 64812755 64812755 + Frame_Shift_Del DEL T T - TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr12:64812755delT ENST00000332707.5 + 6 899 c.370delT c.(370-372)ttfs p.F126fs NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 126 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.F126fs*6(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) GTGGCCCAAGTTTTTTTTTGA 0.443 7 257 --- --- --- --- MTMR10 54893 broad.mit.edu 37 15 31253221 31253222 + In_Frame_Ins INS - - CCT TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr15:31253221_31253222insCCT ENST00000435680.1 - 7 717_718 c.620_621insAGG c.(619-621)gaa>gAGGaa p.207_207E>EE MTMR10_ENST00000425768.1_In_Frame_Ins_p.176_177insR|MTMR10_ENST00000563714.1_In_Frame_Ins_p.125_125E>EE|MTMR10_ENST00000314404.8_5'UTR NM_017762.2 NP_060232.2 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 207 Poly-Gly. phosphatase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) CAGCTCCATTAcctcctcctcc 0.465 3 4 --- --- --- --- LRRC37A11P 342666 broad.mit.edu 37 17 37196001 37196002 + RNA DEL AG AG - rs34712077 TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr17:37196001_37196002delAG ENST00000425901.2 + 0 2604 NR_033753.2 GAATACAGACAGAAAAGAATTT 0.327 7 1 --- --- --- --- PRR11 55771 broad.mit.edu 37 17 57262426 57262426 + Frame_Shift_Del DEL C C - TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr17:57262426delC ENST00000262293.4 + 3 452 c.140delC c.(139-141)ttfs p.S48fs NM_018304.3 NP_060774.2 Q96HE9 PRR11_HUMAN proline rich 11 48 breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) GTCGGTATTTCTTCAATAGAT 0.378 7 133 --- --- --- --- SALL3 27164 broad.mit.edu 37 18 76752542 76752543 + Frame_Shift_Del DEL GC GC - TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr18:76752542_76752543delGC ENST00000536229.3 + 1 861_862 c.152_153delGC c.(151-153)gfs p.G51fs SALL3_ENST00000537592.2_Frame_Shift_Del_p.G184fs|SALL3_ENST00000575389.2_Frame_Shift_Del_p.G184fs Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G184G(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TTCTCGCAGGGCGCGCGCGCGG 0.728 3 5 --- --- --- --- NUMBL 9253 broad.mit.edu 37 19 41173866 41173868 + In_Frame_Del DEL TGC TGC - TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d43e084f-7f0f-4143-97c8-9351eedb0fac 3ee49030-1077-43c0-95ca-768a6e90504b g.chr19:41173866_41173868delTGC ENST00000252891.4 - 10 1502_1504 c.1335_1337delGCA c.(1333-1338)caa>ca p.QQ445del NUMBL_ENST00000540131.1_In_Frame_Del_p.QQ404del|NUMBL_ENST00000598779.1_In_Frame_Del_p.QQ404del NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 445 Poly-Gln. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) TGAGgctgcttgctgctgttgct 0.670 4 6 --- --- --- ---