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 FFAR1 2864 broad.mit.edu 37 19 35842754 35842754 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:35842754G>A ENST00000246553.2 + 1 310 c.300G>A c.(298-300)ctG>ctA p.L100L NM_005303.2 NP_005294.1 O14842 FFAR1_HUMAN free fatty acid receptor 1 100 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) TGGCCGCCCTGAGTGCAGGCC 0.711000 16 7 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128903400 128903400 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:128903400G>A ENST00000375990.3 + 18 2206 c.1803G>A c.(1801-1803)caG>caA p.Q601Q UGGT1_ENST00000259253.6_Silent_p.Q625Q Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 625 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 ACTATGAGCAGACTGGAGTTG 0.413000 26 42 0 0 1 0 0 ZACN 353174 broad.mit.edu 37 17 74076444 74076444 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:74076444C>T ENST00000334586.5 + 5 566 c.483C>T c.(481-483)ctC>ctT p.L161L ZACN_ENST00000392503.2_Intron NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 161 response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 ACTTTGAGCTCCTCCACTTCC 0.642000 9 73 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131020360 131020360 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:131020360G>A ENST00000421699.2 - 22 2338 c.2326C>T c.(2326-2328)Cag>Tag p.Q776* GOLGA2_ENST00000609374.1_Nonsense_Mutation_p.Q764* NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 776 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 GGCTCCTTCTGGGCCGAGGCC 0.692000 15 14 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430029 43430029 + RNA SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:43430029G>C ENST00000406070.2 - 0 1235 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) CTGGGGGATAGAAAGCTTTTG 0.478000 111 102 0 0 1 0 0 KRT79 338785 broad.mit.edu 37 12 53218097 53218097 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:53218097G>A ENST00000330553.5 - 5 939 c.905C>T c.(904-906)tCc>tTc p.S302F NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 302 Linker 12.|Rod. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GTTGTCCATGGACAGCACCAC 0.612000 29 15 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103322579 103322579 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:103322579C>G ENST00000428762.1 - 11 1432 c.1273G>C c.(1273-1275)Gag>Cag p.E425Q RELN_ENST00000343529.5_Missense_Mutation_p.E425Q|RELN_ENST00000424685.2_Missense_Mutation_p.E425Q NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 425 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) GGCTGGCTCTCAAATTCTTCT 0.393000 17 81 0 0 1 0 0 LARP1B 55132 broad.mit.edu 37 4 129003369 129003369 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr4:129003369G>C ENST00000326639.6 + 5 478 c.267G>C c.(265-267)gaG>gaC p.E89D LARP1B_ENST00000394288.3_Missense_Mutation_p.E89D|LARP1B_ENST00000512292.1_Missense_Mutation_p.E89D|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000432347.2_Missense_Mutation_p.E89D|LARP1B_ENST00000441387.1_Missense_Mutation_p.E89D|LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000427266.1_Missense_Mutation_p.E89D NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 89 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 TAAGATCAGAGAGTCAAGAAA 0.373000 3 53 0 0 1 0 0 TMTC2 160335 broad.mit.edu 37 12 83290054 83290054 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:83290054C>T ENST00000549919.1 + 4 2899 c.1094C>T c.(1093-1095)tCc>tTc p.S365F TMTC2_ENST00000548305.1_Missense_Mutation_p.S371F|TMTC2_ENST00000321196.3_Missense_Mutation_p.S371F Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 371 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 AGCTTTGCATCCAAAGTAGAA 0.403000 10 76 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40947750 40947750 + Missense_Mutation SNP T T A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:40947750T>A ENST00000313164.9 + 8 1144 c.785T>A c.(784-786)tTc>tAc p.F262Y NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 262 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GTGGCTCAGTTCATTAATAAC 0.418000 13 25 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34839389 34839389 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:34839389C>G ENST00000192788.5 + 19 4181 c.4010C>G c.(4009-4011)tCt>tGt p.S1337C UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S1337C NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 1337 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 TATCCAACATCTCCAGGCCCC 0.532000 7 78 0 0 1 0 0 CEACAM7 1087 broad.mit.edu 37 19 42187773 42187773 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:42187773C>T ENST00000006724.3 - 3 850 c.649G>A c.(649-651)Gaa>Aaa p.E217K CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000401731.1_Missense_Mutation_p.E217K NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 217 Ig-like C2-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) TTCTGTATTTCACATTCATAG 0.557000 32 115 0 0 1 0 0 CLDN12 9069 broad.mit.edu 37 7 90042499 90042499 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:90042499C>T ENST00000535571.1 + 2 818 c.509C>T c.(508-510)tCa>tTa p.S170L CLDN12_ENST00000394605.2_Missense_Mutation_p.S170L|CLDN12_ENST00000287916.4_Missense_Mutation_p.S170L|CTB-13L3.1_ENST00000480135.1_RNA NM_001185072.2 NP_001172001.1 P56749 CLD12_HUMAN claudin 12 170 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2) 15 CCAGTCTTTTCATTTGACTAT 0.418000 21 148 0 0 1 0 0 ADGRG6 57211 broad.mit.edu 37 6 142736200 142736200 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:142736200C>T ENST00000230173.6 + 19 3112 c.2636C>T c.(2635-2637)tCa>tTa p.S879L GPR126_ENST00000367608.2_Missense_Mutation_p.S851L|GPR126_ENST00000296932.8_Missense_Mutation_p.S851L|GPR126_ENST00000367609.3_Missense_Mutation_p.S879L NM_020455.5 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 879 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) GCTATTTTTTCAGCAGCAACT 0.378000 13 45 0 0 1 0 0 MEF2D 4209 broad.mit.edu 37 1 156453070 156453070 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:156453070C>A ENST00000348159.4 - 2 495 c.15G>T c.(13-15)aaG>aaT p.K5N MEF2D_ENST00000353795.3_Missense_Mutation_p.K5N|MEF2D_ENST00000360595.3_Missense_Mutation_p.K5N|MEF2D_ENST00000340875.5_Missense_Mutation_p.K5N|MEF2D_ENST00000464356.2_Missense_Mutation_p.K5N|MEF2D_ENST00000368240.2_Missense_Mutation_p.K5N NM_005920.2 NP_005911.1 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 5 Arg/Lys-rich (basic).|MADS-box. apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGATCTGAATCTTTTTCCTCC 0.612000 29 114 6.53348e-20 7.04769e-20 1 1 0 KNG1 3827 broad.mit.edu 37 3 186459770 186459770 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:186459770G>A ENST00000265023.4 + 10 1797 c.1585G>A c.(1585-1587)Gaa>Aaa p.E529K KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000599314.1_RNA NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 529 blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) AAGCTCTTCTGAAGACAGTAC 0.443000 24 33 0 0 1 0 0 TCOF1 6949 broad.mit.edu 37 5 149755689 149755689 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:149755689G>C ENST00000451292.1 + 13 2046 c.1938G>C c.(1936-1938)aaG>aaC p.K646N TCOF1_ENST00000445265.2_Missense_Mutation_p.K569N|TCOF1_ENST00000513346.1_Missense_Mutation_p.K646N|TCOF1_ENST00000377797.3_Missense_Mutation_p.K646N|TCOF1_ENST00000323668.7_Missense_Mutation_p.K569N|TCOF1_ENST00000439160.2_Missense_Mutation_p.K646N|TCOF1_ENST00000504761.2_Missense_Mutation_p.K646N|TCOF1_ENST00000394269.3_Missense_Mutation_p.K646N Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 646 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTGCCCAAAGAAAACCAATA 0.572000 16 119 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 170024540 170024540 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:170024540C>G ENST00000361580.2 - 2 297 c.70G>C c.(70-72)Gaa>Caa p.E24Q KIFAP3_ENST00000367767.1_Intron|KIFAP3_ENST00000367765.1_5'UTR|KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000490550.1_5'UTR NM_014970.3 NP_055785.2 Q92845 KIFA3_HUMAN kinesin-associated protein 3 24 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGTGCTTTTTCTGATGGATGT 0.348000 13 29 0 0 1 0 0 FAM49A 81553 broad.mit.edu 37 2 16734264 16734264 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:16734264G>A ENST00000381323.3 - 12 1132 c.912C>T c.(910-912)ttC>ttT p.F304F FAM49A_ENST00000406434.1_Silent_p.F304F|FAM49A_ENST00000355549.2_Silent_p.F304F NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 304 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) GCTTTGTAGTGAACCTGGATG 0.448000 14 45 0 0 1 0 0 GSN 2934 broad.mit.edu 37 9 124072985 124072985 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:124072985C>G ENST00000373823.3 + 12 1280 c.375C>G c.(373-375)ttC>ttG p.F125L GSN_ENST00000412819.1_Missense_Mutation_p.F125L|GSN_ENST00000341272.2_Missense_Mutation_p.F125L|GSN_ENST00000394353.2_Missense_Mutation_p.F136L|GSN_ENST00000436847.1_Missense_Mutation_p.F136L|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000373818.4_Missense_Mutation_p.F176L|GSN_ENST00000545652.1_Missense_Mutation_p.F133L|GSN_ENST00000373808.2_Missense_Mutation_p.F125L|GSN_ENST00000449733.1_Missense_Mutation_p.F125L P06396 GELS_HUMAN gelsolin 176 Actin-actin interfilament contact point.|Actin-severing (Potential). actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 CATCAGGATTCAAGCACGTGG 0.582000 7 30 0 0 1 0 0 LCN6 158062 broad.mit.edu 37 9 139641937 139641937 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:139641937C>T ENST00000435202.1 - 2 138 c.139G>A c.(139-141)Gtg>Atg p.V47M LCN6_ENST00000341206.4_Missense_Mutation_p.V57M P62502 LCN6_HUMAN lipocalin 6 57 single fertilization extracellular region binding lung(3)|upper_aerodigestive_tract(1) 4 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05) ACCACCCCCACGACGTTCTTC 0.637000 13 20 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201981500 201981500 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:201981500G>C ENST00000359651.3 + 3 3606 c.414G>C c.(412-414)tgG>tgC p.W138C RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.W138C|ELF3_ENST00000367283.3_Missense_Mutation_p.W138C|ELF3_ENST00000495848.1_3'UTR P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 138 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 AGCTCAGTTGGATCATTGAGC 0.572000 12 30 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101765795 101765795 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:101765795G>A ENST00000375001.3 + 8 1549 c.1126G>A c.(1126-1128)Gag>Aag p.E376K NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 376 4 X tandem repeats.|Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TGGAGAAGCAGAGGCCAGCAG 0.587000 8 53 0 0 1 0 0 TSPAN16 26526 broad.mit.edu 37 19 11417429 11417429 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:11417429G>C ENST00000316737.1 + 5 750 c.600G>C c.(598-600)caG>caC p.Q200H TSPAN16_ENST00000590327.1_Missense_Mutation_p.Q200H|TSPAN16_ENST00000592955.1_Missense_Mutation_p.Q175H|CTC-510F12.4_ENST00000586356.1_RNA NM_012466.2 NP_036598.1 Q9UKR8 TSN16_HUMAN tetraspanin 16 200 integral to membrane breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 12 TCATCCACCAGAAGGTAACTG 0.468000 9 41 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108153593 108153593 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:108153593G>C ENST00000278616.4 + 25 4118 c.3733G>C c.(3733-3735)Gag>Cag p.E1245Q ATM_ENST00000452508.2_Missense_Mutation_p.E1245Q NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1245 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.N1240fs*4(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CACAAATATTGAGGATTTCTA 0.279000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 4 24 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373852 86373852 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:86373852C>T ENST00000604798.1 - 8 1856 c.652G>A c.(652-654)Gac>Aac p.D218N MGAT4C_ENST00000548651.1_Missense_Mutation_p.D218N|MGAT4C_ENST00000549405.2_Missense_Mutation_p.D218N|MGAT4C_ENST00000552808.2_Missense_Mutation_p.D218N|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.D247N|MGAT4C_ENST00000332156.1_Missense_Mutation_p.D218N Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 218 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 ACATAATAGTCTGAAGTATTG 0.333000 9 32 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90459266 90459266 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:90459266C>T ENST00000369393.3 - 25 3726 c.3611G>A c.(3610-3612)aGa>aAa p.R1204K MDN1_ENST00000428876.1_Missense_Mutation_p.R1204K Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1204 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ACATACCTTTCTGCCTCCATA 0.373000 13 86 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560257 44560257 + Nonsense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr18:44560257G>C ENST00000332567.4 - 1 1731 c.1379C>G c.(1378-1380)tCa>tGa p.S460* KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 460 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CCAGAGCTCTGAGAAGACATG 0.597000 41 69 0 0 1 0 0 TULP2 7288 broad.mit.edu 37 19 49388792 49388792 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:49388792C>T ENST00000221399.3 - 9 1118 c.974G>A c.(973-975)aGa>aAa p.R325K NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 325 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) GCTCCTTCTTCTCTTTCGCCC 0.522000 20 49 0 0 1 0 0 ATXN7L3 56970 broad.mit.edu 37 17 42274363 42274363 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:42274363C>G ENST00000389384.4 - 4 696 c.388G>C c.(388-390)Gag>Cag p.E130Q ATXN7L3_ENST00000454077.2_Missense_Mutation_p.E130Q|ATXN7L3_ENST00000593073.1_Intron NM_001098833.1 NP_001092303.1 Q14CW9 AT7L3_HUMAN ataxin 7-like 3 130 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) TGGTCACTCTCAGACTTATTC 0.522000 23 90 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30706445 30706445 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:30706445G>A ENST00000256246.2 - 1 163 c.89C>T c.(88-90)tCt>tTt p.S30F TEX15_ENST00000523186.1_5'UTR NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 30 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AAGAGGAAAAGAAGCATTAAG 0.383000 8 57 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19559528 19559528 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:19559528G>C ENST00000328405.2 + 15 2847 c.2581G>C c.(2581-2583)Gag>Cag p.E861Q NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 861 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 CATCAAAGCAGAGGAGACCAA 0.403000 7 52 0 0 1 0 0 TAS2R50 259296 broad.mit.edu 37 12 11139385 11139385 + Silent SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:11139385G>C ENST00000506868.1 - 1 126 c.75C>G c.(73-75)ggC>ggG p.G25G TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176890.2 NP_795371.2 P59544 T2R50_HUMAN taste receptor, type 2, member 50 25 sensory perception of taste integral to membrane G-protein coupled receptor activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1) 17 GTGCTATGAAGCCATTGGCAA 0.353000 16 69 0 0 1 0 0 PAX3 5077 broad.mit.edu 37 2 223158954 223158954 + Missense_Mutation SNP T T C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:223158954T>C ENST00000350526.4 - 4 654 c.518A>G c.(517-519)gAg>gGg p.E173G PAX3_ENST00000392069.2_Missense_Mutation_p.E173G|PAX3_ENST00000392070.2_Missense_Mutation_p.E173G|PAX3_ENST00000409828.3_Missense_Mutation_p.E173G|PAX3_ENST00000409551.3_Missense_Mutation_p.E172G|PAX3_ENST00000336840.6_Missense_Mutation_p.E173G|PAX3_ENST00000344493.4_Missense_Mutation_p.E173G|PAX3_ENST00000258387.5_Missense_Mutation_p.E173G NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 173 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTCCTTCCTCTCCAAGTCGGC 0.607000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 3 40 0 0 1 0 0 ITLN1 55600 broad.mit.edu 37 1 160846545 160846545 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:160846545G>T ENST00000326245.3 - 8 966 c.851C>A c.(850-852)tCt>tAt p.S284Y NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 284 positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ATCAAAACCAGAAAAATCTCC 0.473000 43 31 3.4345e-17 3.69625e-17 1 1 0 PPP1R3A 5506 broad.mit.edu 37 7 113518224 113518224 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:113518224C>G ENST00000284601.3 - 4 2991 c.2923G>C c.(2923-2925)Gaa>Caa p.E975Q NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 975 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CTGGAAACTTCTTCAGGTTTA 0.378000 4 98 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128403764 128403764 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:128403764C>G ENST00000368227.3 - 10 1961 c.1595G>C c.(1594-1596)aGa>aCa p.R532T PTPRK_ENST00000368213.5_Missense_Mutation_p.R532T|PTPRK_ENST00000368215.3_Missense_Mutation_p.R532T|PTPRK_ENST00000532331.1_Missense_Mutation_p.R532T|PTPRK_ENST00000368226.4_Missense_Mutation_p.R532T|PTPRK_ENST00000368210.3_Missense_Mutation_p.R532T|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Missense_Mutation_p.R532T Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 532 Fibronectin type-III 3. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ATCAAATGATCTTATACTGCT 0.363000 5 35 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240072138 240072138 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:240072138C>T ENST00000255380.4 + 5 2166 c.1387C>T c.(1387-1389)Ctg>Ttg p.L463L NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 463 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GGAAGCCACTCTGGCCAAGAG 0.542000 13 32 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41598191 41598191 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:41598191G>A ENST00000262415.3 + 20 3082 c.3010G>A c.(3010-3012)Gaa>Aaa p.E1004K DHX8_ENST00000540306.1_Missense_Mutation_p.E1004K NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 1004 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) CTGCAGTGAGGAAATGCTGAC 0.473000 OREG0024435 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 40 0 0 1 0 0 RBM17 84991 broad.mit.edu 37 10 6155492 6155492 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:6155492C>G ENST00000446108.1 + 9 1522 c.878C>G c.(877-879)tCa>tGa p.S293* RBM17_ENST00000379888.4_Nonsense_Mutation_p.S293*|RBM17_ENST00000476706.1_3'UTR NM_001145547.1 NP_001139019.1 Q96I25 SPF45_HUMAN RNA binding motif protein 17 293 mRNA processing|RNA splicing spliceosomal complex nucleotide binding|protein binding|RNA binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 19 AAGTCAGATTCAAATCCGCTG 0.403000 7 95 0 0 1 0 0 FUT2 2524 broad.mit.edu 37 19 49207115 49207115 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:49207115G>A ENST00000425340.2 + 2 1019 c.902G>A c.(901-903)gGa>gAa p.G301E FUT2_ENST00000391876.4_Missense_Mutation_p.G301E NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 301 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) CTCACGGGCGGAGACACCATC 0.562000 17 74 0 0 1 0 0 PPP2R5E 5529 broad.mit.edu 37 14 64006396 64006396 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:64006396G>A ENST00000337537.3 - 2 610 c.8C>T c.(7-9)tCa>tTa p.S3L PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S3L|PPP2R5E_ENST00000553266.1_5'UTR NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2 NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1 Q16537 2A5E_HUMAN protein phosphatase 2, regulatory subunit B', epsilon isoform 3 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) AGTTGGTGCTGAGGACATATC 0.413000 17 32 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70981388 70981388 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:70981388G>A ENST00000357250.6 - 14 1271 c.1113C>T c.(1111-1113)ctC>ctT p.L371L COL9A1_ENST00000320755.7_Silent_p.L128L|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Silent_p.L128L NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 371 Triple-helical region (COL3). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GCTCTCCAGGGAGTCCTGCTG 0.383000 8 22 0 0 1 0 0 RAD17 5884 broad.mit.edu 37 5 68710000 68710000 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:68710000C>A ENST00000509734.1 + 18 2605 c.1927C>A c.(1927-1929)Ctt>Att p.L643I RAD17_ENST00000504177.1_3'UTR|RAD17_ENST00000345306.6_Missense_Mutation_p.L632I|RAD17_ENST00000354312.3_Missense_Mutation_p.L632I|RAD17_ENST00000380774.3_Missense_Mutation_p.L643I|RAD17_ENST00000354868.5_Missense_Mutation_p.L632I|RAD17_ENST00000358030.2_Missense_Mutation_p.L467I|RAD17_ENST00000305138.4_Missense_Mutation_p.L632I|RAD17_ENST00000361732.2_Missense_Mutation_p.L632I|RAD17_ENST00000521422.1_Missense_Mutation_p.L467I|RAD17_ENST00000282891.6_Missense_Mutation_p.L546I O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 643 Interaction with MCM7. cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) AACCTGGTCTCTTCCTTTGAG 0.507000 Other conserved DNA damage response genes 30 66 2.12542e-12 2.26387e-12 1 1 0 KIF27 55582 broad.mit.edu 37 9 86495311 86495311 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:86495311C>T ENST00000297814.2 - 11 2687 c.2544G>A c.(2542-2544)atG>atA p.M848I KIF27_ENST00000413982.1_Intron|KIF27_ENST00000334204.2_Missense_Mutation_p.M848I|KIF27_ENST00000376347.1_Missense_Mutation_p.M239I NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 848 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 TTTGATATTTCATGTGATCTA 0.378000 7 142 0 0 1 0 0 RPN2 6185 broad.mit.edu 37 20 35854188 35854188 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:35854188G>C ENST00000237530.6 + 11 1593 c.1282G>C c.(1282-1284)Gaa>Caa p.E428Q RPN2_ENST00000373622.5_Missense_Mutation_p.E396Q NM_002951.3 NP_002942.2 P04844 RPN2_HUMAN ribophorin II 428 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) CACTGGTGCTGAACTCACTCC 0.478000 6 30 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193355756 193355756 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:193355756G>A ENST00000361510.2 + 11 1285 c.1051G>A c.(1051-1053)Gat>Aat p.D351N OPA1_ENST00000392438.3_Missense_Mutation_p.D296N|OPA1_ENST00000361828.2_Missense_Mutation_p.D314N|OPA1_ENST00000361908.3_Missense_Mutation_p.D333N|OPA1_ENST00000361715.2_Missense_Mutation_p.D315N|OPA1_ENST00000361150.2_Missense_Mutation_p.D297N NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 296 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) TGTGGTTGGAGATCAGAGTGC 0.388000 9 31 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233161125 233161125 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:233161125C>G ENST00000258229.9 - 26 4606 c.4372G>C c.(4372-4374)Gag>Cag p.E1458Q PCNXL2_ENST00000344698.2_Missense_Mutation_p.E110Q NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GCTTCTACCTCCCTCTGCTGG 0.552000 OREG0014326 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 31 0 0 1 0 0 ACAP1 9744 broad.mit.edu 37 17 7250503 7250503 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:7250503G>C ENST00000158762.3 + 14 1491 c.1285G>C c.(1285-1287)Gag>Cag p.E429Q NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 429 Arf-GAP.|Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 GCCAGCCCCGGAGTGGGCCAG 0.667000 7 60 0 0 1 0 0 TRIM45 80263 broad.mit.edu 37 1 117663604 117663604 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:117663604C>T ENST00000256649.4 - 1 746 c.220G>A c.(220-222)Gag>Aag p.E74K TRIM45_ENST00000369461.3_Intron|TRIM45_ENST00000369464.3_Missense_Mutation_p.E74K NM_025188.3 NP_079464.2 Q9H8W5 TRI45_HUMAN tripartite motif containing 45 74 cytoplasm|nucleus zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1) 23 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) ATTGACCCCTCAGAGCTTGTG 0.552000 22 60 0 0 1 0 0 MTO1 25821 broad.mit.edu 37 6 74171787 74171787 + Silent SNP C C T rs138494495 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:74171787C>T ENST00000498286.1 + 1 487 c.210C>T c.(208-210)gaC>gaT p.D70D MTO1_ENST00000370300.4_Silent_p.D70D|MTO1_ENST00000370305.1_Intron|MTO1_ENST00000415954.2_Silent_p.D70D Q9Y2Z2 MTO1_HUMAN mitochondrial tRNA translation optimization 1 70 tRNA processing mitochondrion flavin adenine dinucleotide binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1) 27 ACCGCGTGGACACGATCGGTG 0.662000 16 35 0 0 1 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130846112 130846112 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:130846112C>T ENST00000509018.1 - 8 905 c.700G>A c.(700-702)Gaa>Aaa p.E234K RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E234K|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E284K|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E234K|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E234K|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E234K|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E234K NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 234 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) TCTTCCTCTTCGTCATCCTCA 0.433000 4 51 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101598738 101598738 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:101598738G>C ENST00000335681.5 + 16 1813 c.1528G>C c.(1528-1530)Gag>Cag p.E510Q NPAS2_ENST00000542504.1_Missense_Mutation_p.E575Q NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 510 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGACCAGCTAGAGCAGCGGAC 0.522000 5 34 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169644891 169644891 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:169644891G>A ENST00000428432.2 + 6 1230 c.841G>A c.(841-843)Gag>Aag p.E281K SAMD7_ENST00000335556.3_Missense_Mutation_p.E281K NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 281 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TGGGAAAGAGGAGGCTTCGGA 0.567000 24 70 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30701384 30701384 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:30701384C>T ENST00000256246.2 - 1 5224 c.5150G>A c.(5149-5151)cGa>cAa p.R1717Q NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1717 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AAGCAAGCTTCGCAATGTTGG 0.388000 8 48 0 0 1 0 0 MBTPS2 51360 broad.mit.edu 37 X 21863386 21863386 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:21863386G>A ENST00000365779.2 + 3 403 c.322G>A c.(322-324)Gac>Aac p.D108N MBTPS2_ENST00000379484.5_Missense_Mutation_p.D108N|MBTPS2_ENST00000465888.1_3'UTR O43462 MBTP2_HUMAN membrane-bound transcription factor peptidase, site 2 108 cholesterol metabolic process|proteolysis Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 AATGATGGCTGACtctccctc 0.433000 8 60 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204401446 204401446 + Nonsense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:204401446G>C ENST00000367187.3 - 28 4593 c.4037C>G c.(4036-4038)tCa>tGa p.S1346* PIK3C2B_ENST00000424712.2_Nonsense_Mutation_p.S1318*|RP11-739N20.2_ENST00000443515.1_RNA NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 1346 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) CCGGTCATCTGAGCCCGTGAA 0.512000 16 59 0 0 1 0 0 ZNF75D 7626 broad.mit.edu 37 X 134425452 134425452 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:134425452C>G ENST00000370766.3 - 5 3351 c.642G>C c.(640-642)caG>caC p.Q214H ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Intron NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 214 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 TGATTCTTTTCTGCTCAGAAA 0.433000 10 17 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99695524 99695524 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:99695524C>A ENST00000303887.5 - 8 1563 c.918G>T c.(916-918)atG>atT p.M306I MCM7_ENST00000343023.6_Missense_Mutation_p.M306I|MCM7_ENST00000354230.3_Missense_Mutation_p.M130I NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 306 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CACTCTTGTTCATCTTCACAA 0.517000 13 68 3.27435e-08 3.4366e-08 1 1 0 MLF1 4291 broad.mit.edu 37 3 158310367 158310367 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:158310367G>C ENST00000359117.5 + 2 353 c.117G>C c.(115-117)ttG>ttC p.L39F MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000484955.1_Missense_Mutation_p.L39F|MLF1_ENST00000471745.1_Missense_Mutation_p.L39F|MLF1_ENST00000355893.5_Missense_Mutation_p.L64F|MLF1_ENST00000478894.2_Missense_Mutation_p.L39F|MLF1_ENST00000482628.1_Missense_Mutation_p.L39F|MLF1_ENST00000392822.3_Missense_Mutation_p.L80F|MLF1_ENST00000469452.1_Missense_Mutation_p.L39F NM_001130156.2 NP_001123628.1 P58340 MLF1_HUMAN myeloid leukemia factor 1 64 cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding large_intestine(3) 3 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) AAGATTCTTTGACTGTAAGTT 0.358000 T NPM1 AML 26 19 0 0 1 0 0 NR5A2 2494 broad.mit.edu 37 1 200017770 200017770 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:200017770G>C ENST00000367362.3 + 5 1180 c.934G>C c.(934-936)Gag>Cag p.E312Q NR5A2_ENST00000544748.1_Missense_Mutation_p.E240Q|NR5A2_ENST00000236914.3_Missense_Mutation_p.E266Q NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 312 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) TTTGAAGTGTGAGCCAGATGA 0.483000 9 64 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40853927 40853927 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:40853927G>C ENST00000254691.5 + 3 2692 c.2493G>C c.(2491-2493)gaG>gaC p.E831D CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 831 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 CCTGCCCTGAGAGACCACAAA 0.498000 6 362 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107703339 107703339 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:107703339C>T ENST00000388781.3 - 23 3245 c.3162G>A c.(3160-3162)ccG>ccA p.P1054P LAMB4_ENST00000205386.4_Silent_p.P1054P|LAMB4_ENST00000388780.3_Silent_p.P1054P NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1054 Laminin EGF-like 11. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CTGTGACATTCGGCAGACAAG 0.592000 10 24 0 0 1 0 0 ZNF74 7625 broad.mit.edu 37 22 20759741 20759741 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr22:20759741G>T ENST00000400451.2 + 5 932 c.418G>T c.(418-420)Gag>Tag p.E140* ZNF74_ENST00000403682.3_Missense_Mutation_p.G111V|ZNF74_ENST00000357502.5_Missense_Mutation_p.G145V|ZNF74_ENST00000356671.5_Nonsense_Mutation_p.E140*|ZNF74_ENST00000405993.1_Nonsense_Mutation_p.E108* NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 140 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GCCCATCATGGAGCGGCCCCT 0.632000 8 59 5.18039e-06 5.35269e-06 1 1 0 STIL 6491 broad.mit.edu 37 1 47728780 47728780 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:47728780G>C ENST00000360380.3 - 16 2984 c.2621C>G c.(2620-2622)tCt>tGt p.S874C STIL_ENST00000243182.6_Missense_Mutation_p.S874C|STIL_ENST00000371877.3_Missense_Mutation_p.S875C|STIL_ENST00000337817.5_Missense_Mutation_p.S874C|STIL_ENST00000396221.2_Intron NM_001282936.1 NP_001269865.1 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 874 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) CACAACTAGAGAAGAGCTGCT 0.403000 8 18 0 0 1 0 0 CPNE6 9362 broad.mit.edu 37 14 24542729 24542729 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:24542729C>T ENST00000397016.2 + 4 501 c.190C>T c.(190-192)Cgc>Tgc p.R64C CPNE6_ENST00000560092.1_3'UTR|CPNE6_ENST00000537691.1_Missense_Mutation_p.R119C|CPNE6_ENST00000216775.2_Missense_Mutation_p.R64C NM_001280558.1 NP_001267487.1 O95741 CPNE6_HUMAN copine VI (neuronal) 64 C2 1. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity p.R64C(1) endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) AGAGGTGCTTCGCTCCTGTTC 0.582000 5 127 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 121960345 121960345 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:121960345C>T ENST00000334010.7 - 28 4180 c.3759G>A c.(3757-3759)ctG>ctA p.L1253L CADPS2_ENST00000313070.7_Silent_p.L1214L|CADPS2_ENST00000412584.2_Silent_p.L1214L|CADPS2_ENST00000449022.2_Silent_p.L1255L NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 1255 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TCTTACTGTTCAGTGTTCCTT 0.423000 25 125 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157667085 157667085 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:157667085C>T ENST00000368184.3 - 6 980 c.689G>A c.(688-690)aGa>aAa p.R230K FCRL3_ENST00000368186.5_Missense_Mutation_p.R230K|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 230 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CTGGCTATCTCTGAAGAGGGA 0.587000 4 98 0 0 1 0 0 KRT75 9119 broad.mit.edu 37 12 52822458 52822458 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:52822458C>T ENST00000252245.5 - 6 1325 c.1105G>A c.(1105-1107)Gaa>Aaa p.E369K NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 369 Coil 2.|Rod. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) CGGTTCATTTCAGAGATCTCT 0.507000 8 45 0 0 1 0 0 HOXB7 3217 broad.mit.edu 37 17 46685224 46685224 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:46685224C>T ENST00000239165.7 - 2 732 c.634G>A c.(634-636)Gag>Aag p.E212K HOXB7_ENST00000567101.2_5'UTR NM_004502.3 NP_004493.3 P09629 HXB7_HUMAN homeobox B7 212 Glu-rich (acidic). nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 8 tcttcctcCTCTGCTTCAGCC 0.542000 36 57 0 0 1 0 0 RASL12 51285 broad.mit.edu 37 15 65347258 65347258 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:65347258C>T ENST00000220062.4 - 5 1056 c.780G>A c.(778-780)ctG>ctA p.L260L RASL12_ENST00000421977.3_Silent_p.L241L|RASL12_ENST00000434605.2_Silent_p.L249L NM_016563.2 NP_057647.1 Q9NYN1 RASLC_HUMAN RAS-like, family 12 260 small GTPase mediated signal transduction membrane GTP binding|GTPase activity lung(1)|ovary(1)|skin(1)|urinary_tract(1) 4 TGAAGCCCTTCAGGAGAGTCA 0.632000 OREG0023189 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 34 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121491651 121491651 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:121491651C>G ENST00000275159.6 - 23 2592 c.2593G>C c.(2593-2595)Gat>Cat p.D865H TBC1D32_ENST00000398212.2_Intron|TBC1D32_ENST00000398197.2_Intron TBC1 domain family, member 32 GTGTCCAGATCACAGCATATC 0.343000 7 27 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17692211 17692211 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:17692211G>T ENST00000399080.2 - 3 3363 c.3340C>A c.(3340-3342)Cca>Aca p.P1114T NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 1114 Interaction with RAD51. endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ATGCCATGTGGAAAGTGACTA 0.318000 3 29 0.115264 0.115886 1 1 0 SCAF11 9169 broad.mit.edu 37 12 46322143 46322143 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:46322143C>G ENST00000465950.1 - 1 1605 c.396G>C c.(394-396)ttG>ttC p.L132F SCAF11_ENST00000549162.1_Missense_Mutation_p.L255F|SCAF11_ENST00000419565.2_Missense_Mutation_p.L447F|SCAF11_ENST00000369367.3_Missense_Mutation_p.L447F Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 447 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TGCAACTTTTCAAGCAATTAG 0.388000 3 71 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43913784 43913784 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:43913784G>A ENST00000562955.1 + 68 9427 c.9427G>A c.(9427-9429)Gag>Aag p.E3143K SZT2_ENST00000372442.1_Missense_Mutation_p.E2301K|SZT2-AS1_ENST00000396885.2_RNA NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 3200 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CAGCCAGCGAGAGCTCTTCCC 0.652000 8 17 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241095 60241095 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:60241095C>T ENST00000296597.5 + 1 140 c.13C>T c.(13-15)Cag>Tag p.Q5* NDUFAF2_ENST00000511107.1_Nonsense_Mutation_p.Q5* NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 5 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) GGGTTGGTCTCAGGATTTGTT 0.612000 5 11 0 0 1 0 0 ZNF33A 7581 broad.mit.edu 37 10 38345344 38345344 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:38345344C>G ENST00000374618.3 + 5 2470 c.2292C>G c.(2290-2292)ctC>ctG p.L764L ZNF33A_ENST00000458705.2_Silent_p.L763L|ZNF33A_ENST00000307441.9_Silent_p.L763L|ZNF33A_ENST00000432900.2_Silent_p.L770L|ZNF33A_ENST00000469037.2_Intron NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 763 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 AGTCAAATCTCATTGTACATC 0.383000 8 54 0 0 1 0 0 APPBP2 10513 broad.mit.edu 37 17 58539404 58539404 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:58539404C>G ENST00000083182.3 - 7 1068 c.781G>C c.(781-783)Gaa>Caa p.E261Q APPBP2_ENST00000592995.1_5'UTR NM_001282476.1|NM_006380.2 NP_001269405.1|NP_006371.2 Q92624 APBP2_HUMAN amyloid beta precursor protein (cytoplasmic tail) binding protein 2 261 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) TTCTTAAATTCACGTTTTACT 0.294000 17 160 0 0 1 0 0 OR10A6 390093 broad.mit.edu 37 11 7949369 7949369 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:7949369G>C ENST00000309838.2 - 1 840 c.841C>G c.(841-843)Ctg>Gtg p.L281V NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGTGGTGTCAGAAGTGAGTAA 0.423000 13 50 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49941097 49941097 + RNA SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:49941097G>A ENST00000435478.1 + 0 451 GGACCTGGGCGTGGGCCTGGC 0.682000 4 13 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082920 152082920 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:152082920C>G ENST00000368804.1 - 2 2772 c.2773G>C c.(2773-2775)Gaa>Caa p.E925Q NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 925 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCCTGTTCTTGGCGCCTT 0.587000 5 209 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907902 12907902 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:12907902C>G ENST00000317869.6 - 2 466 c.241G>C c.(241-243)Gat>Cat p.D81H NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 AGGTTAATATCTACAACCTGG 0.488000 20 132 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234526407 234526407 + Silent SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:234526407G>C ENST00000373450.4 + 1 117 c.54G>C c.(52-54)ctG>ctC p.L18L NM_019076.4 NP_061949.3 P22309 UD11_HUMAN bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CTCTGCTGCTGACCTGTGGCT 0.577000 9 43 0 0 1 0 0 RFXANK 8625 broad.mit.edu 37 19 19308934 19308934 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:19308934C>T ENST00000303088.4 + 7 931 c.457C>T c.(457-459)Ctg>Ttg p.L153L RFXANK_ENST00000456252.3_Silent_p.L131L|RFXANK_ENST00000353145.1_Silent_p.L130L|RFXANK_ENST00000407360.3_Silent_p.L153L|RFXANK_ENST00000392324.4_Silent_p.L130L NM_003721.2 NP_003712.1 O14593 RFXK_HUMAN regulatory factor X-associated ankyrin-containing protein 153 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1) 14 Epithelial(12;0.00228) CCCCCACATCCTGGCAAAAGA 0.597000 13 92 0 0 1 0 0 CASC1 55259 broad.mit.edu 37 12 25308333 25308333 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:25308333C>G ENST00000354189.5 - 5 421 c.386G>C c.(385-387)aGa>aCa p.R129T CASC1_ENST00000545133.1_Missense_Mutation_p.R6T|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395990.2_Missense_Mutation_p.R25T|CASC1_ENST00000537577.1_5'UTR|CASC1_ENST00000395987.3_Missense_Mutation_p.R71T|CASC1_ENST00000320267.9_Missense_Mutation_p.R65T NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 65 p.R71K(1) breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TTCTTCATTTCTCCTTTCTAG 0.343000 6 24 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39919379 39919379 + Splice_Site SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:39919379G>C ENST00000564288.1 + 88 21520 c.20743G>C c.(20743-20745)Gaa>Caa p.E6915Q MACF1_ENST00000545844.1_Splice_Site_p.E4856Q|MACF1_ENST00000567887.1_Splice_Site_p.E6952Q|MACF1_ENST00000539005.1_Splice_Site_p.E4726Q|MACF1_ENST00000361689.2_Splice_Site_p.E4856Q|MACF1_ENST00000372915.3_Splice_Site_p.E6814Q|MACF1_ENST00000317713.7_Splice_Site_p.E4856Q|MACF1_ENST00000289893.4_Splice_Site_p.E5358Q Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6925 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTTTGTTTAGGAATTCATGAA 0.398000 7 109 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127797031 127797031 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:127797031C>T ENST00000556132.1 - 6 3004 c.2140G>A c.(2140-2142)Gag>Aag p.E714K SOGA3_ENST00000481848.2_Missense_Mutation_p.E714K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E714K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E714K|SOGA3_ENST00000525778.1_Missense_Mutation_p.E714K NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 714 integral to membrane CCGCTGAGCTCGTTGATCTGC 0.657000 16 69 0 0 1 0 0 PSMD2 5708 broad.mit.edu 37 3 184026294 184026294 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:184026294G>A ENST00000310118.4 + 20 3041 c.2483G>A c.(2482-2484)cGa>cAa p.R828Q PSMD2_ENST00000439383.1_Missense_Mutation_p.R698Q|PSMD2_ENST00000435761.1_Missense_Mutation_p.R669Q|EIF2B5_ENST00000444495.1_Intron NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 828 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) ATGCAGCCCCGAATGCTGGTT 0.522000 OREG0015948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 94 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70467264 70467264 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:70467264G>A ENST00000373998.1 - 13 2942 c.2245C>T c.(2245-2247)Ctg>Ttg p.L749L ZMYM3_ENST00000353904.2_Silent_p.L749L|ZMYM3_ENST00000373984.3_Silent_p.L751L|ZMYM3_ENST00000373988.1_Silent_p.L751L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Silent_p.L749L NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 749 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TAGAAACGCAGAAGACACTGC 0.592000 17 6 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136990476 136990476 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:136990476G>A ENST00000359015.4 - 8 1671 c.1311C>T c.(1309-1311)gtC>gtT p.V437V NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 437 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) CCAGGAGGAGGACCGCATAAT 0.388000 21 64 0 0 1 0 0 PLAT 5327 broad.mit.edu 37 8 42038083 42038083 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:42038083C>T ENST00000220809.4 - 10 1266 c.1010G>A c.(1009-1011)gGa>gAa p.G337E PLAT_ENST00000270189.6_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.G291E|PLAT_ENST00000429710.2_Missense_Mutation_p.G211E|PLAT_ENST00000519510.1_Missense_Mutation_p.G274E|PLAT_ENST00000524009.1_Missense_Mutation_p.G248E|PLAT_ENST00000429089.2_Missense_Mutation_p.G337E NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 337 Peptidase S1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity p.G337E(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GAACCGCTCTCCGGGCGACCT 0.622000 9 64 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77672613 77672613 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr13:77672613C>G ENST00000407578.2 - 56 8942 c.8676G>C c.(8674-8676)ttG>ttC p.L2892F MYCBP2_ENST00000544440.2_Missense_Mutation_p.L2854F|MYCBP2_ENST00000360084.5_Missense_Mutation_p.L377F|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L2854F|MYCBP2-AS1_ENST00000593933.1_RNA NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2854 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ACCGTCCTCTCAAAGGTTCTG 0.473000 31 38 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90459272 90459272 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:90459272C>A ENST00000369393.3 - 25 3720 c.3605G>T c.(3604-3606)gGa>gTa p.G1202V MDN1_ENST00000428876.1_Missense_Mutation_p.G1202V Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1202 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CTTTCTGCCTCCATAAAGTCC 0.383000 17 91 1.01871e-10 1.07891e-10 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113331105 113331105 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:113331105C>T ENST00000297405.5 - 47 7565 c.7321G>A c.(7321-7323)Gaa>Aaa p.E2441K CSMD3_ENST00000352409.3_Missense_Mutation_p.E2371K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E2401K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E2337K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2441 Sushi 13. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGCAGTCGTTCTCCTAATCTG 0.348000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 42 0 0 1 0 0 SPPL2B 56928 broad.mit.edu 37 19 2344616 2344616 + RNA SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:2344616C>T ENST00000452401.2 + 0 1319 Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity 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) ACCGGCCCTTCTCCCTCCTGG 0.642000 5 20 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108155118 108155118 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:108155118G>A ENST00000278616.4 + 26 4296 c.3911G>A c.(3910-3912)aGa>aAa p.R1304K ATM_ENST00000452508.2_Missense_Mutation_p.R1304K NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1304 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.V1292_Q1331del(1)|p.R1304fs*43(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAGGGTACCAGAGACAGTGGG 0.378000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 16 39 0 0 1 0 0 INPP5K 51763 broad.mit.edu 37 17 1400009 1400009 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:1400009G>A ENST00000406424.4 - 11 1684 c.824C>T c.(823-825)tCa>tTa p.S275L INPP5K_ENST00000397335.3_Missense_Mutation_p.S259L|INPP5K_ENST00000542125.1_Missense_Mutation_p.S255L|INPP5K_ENST00000320345.6_Missense_Mutation_p.S275L|INPP5K_ENST00000421807.2_Missense_Mutation_p.S351L NM_001135642.1 NP_001129114.1 Q9BT40 INP5K_HUMAN inositol polyphosphate-5-phosphatase K 351 Catalytic (Potential). actin cytoskeleton organization cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding endometrium(1)|large_intestine(7)|lung(3)|skin(1) 12 GTCCGAGGTTGAAGAGTAGCT 0.577000 13 55 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32257986 32257986 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:32257986C>G ENST00000360482.2 - 15 2921 c.2792G>C c.(2791-2793)aGa>aCa p.R931T SPOCD1_ENST00000533231.1_Missense_Mutation_p.R931T|SPOCD1_ENST00000257100.3_Missense_Mutation_p.R424T|SPOCD1_ENST00000373648.2_3'UTR NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 931 SPOC. transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TGGGCACAGTCTGACCACGCA 0.632000 9 16 0 0 1 0 0 CLEC7A 64581 broad.mit.edu 37 12 10271151 10271151 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:10271151G>A ENST00000353231.5 - 5 670 c.512C>T c.(511-513)tCt>tTt p.S171F CLEC7A_ENST00000298523.5_Silent_p.I131I|CLEC7A_ENST00000396484.2_Missense_Mutation_p.S138F|CLEC7A_ENST00000304084.8_Missense_Mutation_p.S217F|CLEC7A_ENST00000533022.1_Silent_p.I177I NM_022570.4 NP_072092.2 Q9BXN2 CLC7A_HUMAN C-type lectin domain family 7, member A 217 C-type lectin. carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation cytoplasm|integral to membrane metal ion binding|MHC protein binding|sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 7 ACAATTTGGAGATGGGTTTTC 0.368000 31 44 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112418590 112418590 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:112418590C>G ENST00000302475.4 - 9 1744 c.1181G>C c.(1180-1182)aGa>aCa p.R394T MCC_ENST00000408903.3_Missense_Mutation_p.R584T|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.R331T NM_002387.2 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers 394 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CTCAAACTCTCTAATCTTGCT 0.488000 16 58 0 0 1 0 0 TGFB2 7042 broad.mit.edu 37 1 218578611 218578611 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:218578611C>T ENST00000366929.4 + 3 998 c.531C>T c.(529-531)ttC>ttT p.F177F TGFB2_ENST00000366930.4_Silent_p.F149F NM_001135599.2 NP_001129071.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 149 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) AAGCAGAGTTCAGAGTCTTTC 0.428000 19 153 0 0 1 0 0 EIF2B5 8893 broad.mit.edu 37 3 183862433 183862433 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:183862433C>G ENST00000273783.3 + 15 2166 c.2044C>G c.(2044-2046)Ctg>Gtg p.L682V EIF2B5_ENST00000444495.1_Missense_Mutation_p.L682V NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 682 W2. astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GGAAACAATTCTGAGCTGGTT 0.527000 13 26 0 0 1 0 0 SFRP1 6422 broad.mit.edu 37 8 41166178 41166178 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:41166178G>C ENST00000220772.3 - 1 838 c.501C>G c.(499-501)atC>atG p.I167M NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 167 FZ. brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) GCGTCATGGCGATGCAGACGT 0.667000 3 10 0 0 1 0 0 EXOSC1 51013 broad.mit.edu 37 10 99197504 99197504 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:99197504C>G ENST00000370902.3 - 6 380 c.349G>C c.(349-351)Gaa>Caa p.E117Q EXOSC1_ENST00000370885.4_Missense_Mutation_p.E92Q|EXOSC1_ENST00000485122.2_Intron|EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000370886.5_Intron NM_016046.3 NP_057130.1 Q9Y3B2 EXOS1_HUMAN exosome component 1 117 S1 motif. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus protein binding|RNA binding breast(1)|endometrium(1)|lung(5) 7 Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965) all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202) TTATAAATTTCAACCTGTAAA 0.408000 17 41 0 0 1 0 0 RTN4 57142 broad.mit.edu 37 2 55200745 55200745 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:55200745G>A ENST00000337526.6 - 8 3733 c.3490C>T c.(3490-3492)Cat>Tat p.H1164Y RTN4_ENST00000405240.1_Missense_Mutation_p.H958Y|RTN4_ENST00000404909.1_Missense_Mutation_p.H958Y|RTN4_ENST00000486085.1_5'UTR|RTN4_ENST00000354474.6_Missense_Mutation_p.H932Y|RTN4_ENST00000317610.7_Missense_Mutation_p.H345Y|RTN4_ENST00000402434.2_Missense_Mutation_p.H317Y|RTN4_ENST00000357376.3_Missense_Mutation_p.H958Y|RTN4_ENST00000394611.2_Missense_Mutation_p.H958Y|RTN4_ENST00000394609.2_Missense_Mutation_p.H171Y|RTN4_ENST00000357732.4_Missense_Mutation_p.H364Y NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 1164 Reticulon. apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 CCTAGATAATGATCTATCTGT 0.343000 24 17 0 0 1 0 0 KBTBD8 84541 broad.mit.edu 37 3 67058729 67058729 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:67058729G>A ENST00000295568.4 + 4 1779 c.1648G>A c.(1648-1650)Gat>Aat p.D550N KBTBD8_ENST00000417314.2_Missense_Mutation_p.D576N|KBTBD8_ENST00000460576.1_Missense_Mutation_p.D134N NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 576 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) TGAGACCCCAGATCGGCTCTG 0.448000 22 65 0 0 1 0 0 TCTEX1D1 200132 broad.mit.edu 37 1 67242036 67242036 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:67242036G>C ENST00000282670.2 + 4 414 c.286G>C c.(286-288)Gaa>Caa p.E96Q NM_152665.2 NP_689878.2 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 96 large_intestine(2)|lung(10)|skin(1) 13 TCTACAAGTAGAAGAATATGA 0.358000 4 70 0 0 1 0 0 AGO3 192669 broad.mit.edu 37 1 36521290 36521290 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:36521290C>G ENST00000373191.4 + 19 2876 c.2527C>G c.(2527-2529)Ctt>Gtt p.L843V AGO3_ENST00000246314.6_Missense_Mutation_p.L609V NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 TCCACAAGCTCTTGCCAAGGC 0.408000 15 56 0 0 1 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79954396 79954396 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:79954396G>A ENST00000306729.7 + 7 704 c.607G>A c.(607-609)Gaa>Aaa p.E203K ASPSCR1_ENST00000306739.4_Missense_Mutation_p.E203K|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.E126K NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 203 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) ACTTCCCTTGGAATCTGGGGA 0.667000 T TFE3 alveolar soft part sarcoma 14 23 0 0 1 0 0 SEPT9 10801 broad.mit.edu 37 17 75484811 75484811 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:75484811G>A ENST00000329047.8 + 6 1885 c.1073G>A c.(1072-1074)tGg>tAg p.W358* SEPT9_ENST00000592951.1_Nonsense_Mutation_p.W125*|SEPT9_ENST00000449803.2_Nonsense_Mutation_p.W212*|SEPT9_ENST00000590294.1_Nonsense_Mutation_p.W358*|SEPT9_ENST00000431235.2_Nonsense_Mutation_p.W212*|SEPT9_ENST00000588690.1_Nonsense_Mutation_p.W212*|SEPT9_ENST00000591088.1_Nonsense_Mutation_p.W125*|SEPT9_ENST00000541152.2_Nonsense_Mutation_p.W125*|SEPT9_ENST00000591198.1_Nonsense_Mutation_p.W357*|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000427177.1_Nonsense_Mutation_p.W376*|SEPT9_ENST00000427674.2_Nonsense_Mutation_p.W212*|SEPT9_ENST00000585930.1_Nonsense_Mutation_p.W152*|SEPT9_ENST00000423034.2_Nonsense_Mutation_p.W369*|SEPT9_ENST00000427180.1_Nonsense_Mutation_p.W264* NM_006640.4 NP_006631.2 Q9UHD8 SEPT9_HUMAN septin 9 376 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) CCACGCAGCTGGCAGCCCATC 0.592000 12 64 0 0 1 0 0 WDR47 22911 broad.mit.edu 37 1 109514174 109514174 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:109514174G>A ENST00000357672.3 - 14 2929 c.2554C>T c.(2554-2556)Cct>Tct p.P852S WDR47_ENST00000361054.3_Missense_Mutation_p.P852S|WDR47_ENST00000400794.3_Missense_Mutation_p.P888S|WDR47_ENST00000369962.3_Missense_Mutation_p.P880S|WDR47_ENST00000369965.4_Missense_Mutation_p.P881S O94967 WDR47_HUMAN WD repeat domain 47 880 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) ACCATGATAGGAAGCTGCTTG 0.418000 12 55 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168265330 168265330 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:168265330C>G ENST00000366806.2 + 2 347 c.205C>G c.(205-207)Caa>Gaa p.Q69E MLLT4_ENST00000447894.2_Missense_Mutation_p.Q69E|MLLT4_ENST00000400822.3_Missense_Mutation_p.Q69E|MLLT4_ENST00000392108.3_Missense_Mutation_p.Q69E|MLLT4_ENST00000351017.4_Missense_Mutation_p.Q69E|MLLT4_ENST00000392112.1_Missense_Mutation_p.Q69E|MLLT4_ENST00000344191.4_Missense_Mutation_p.Q69E P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 69 Ras-associating 1. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TGCCACCACTCAAGATGTAAT 0.438000 T MLL AL 121 116 0 0 1 0 0 SNAPC4 6621 broad.mit.edu 37 9 139272859 139272859 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:139272859C>A ENST00000298532.2 - 21 3788 c.3420G>T c.(3418-3420)atG>atT p.M1140I NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 1140 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GTTCCCTGTTCATATTGGCTG 0.662000 3 13 2.56e-06 2.65693e-06 1 1 0 HOXB13 10481 broad.mit.edu 37 17 46805705 46805705 + Missense_Mutation SNP C C G rs138213197 byFrequency TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:46805705C>G ENST00000290295.7 - 1 835 c.251G>C c.(250-252)gGa>gCa p.G84A NM_006361.5 NP_006352.2 Q92826 HXB13_HUMAN homeobox B13 84 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|lung(6)|prostate(1) 11 GTACCCGCCTCCAAAGTAACC 0.687000 17 74 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119344239 119344239 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:119344239G>C ENST00000338891.7 - 3 1464 c.1021C>G c.(1021-1023)Caa>Gaa p.Q341E FAM184A_ENST00000521531.1_Missense_Mutation_p.Q341E|FAM184A_ENST00000522284.1_Missense_Mutation_p.Q221E|FAM184A_ENST00000368475.4_Missense_Mutation_p.Q221E|FAM184A_ENST00000352896.5_Missense_Mutation_p.Q221E|RP11-351A11.1_ENST00000518570.1_RNA NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 341 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 AGCTGTTTTTGAAGAACCTAA 0.363000 20 64 0 0 1 0 0 CLCN7 1186 broad.mit.edu 37 16 1515311 1515311 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:1515311C>G ENST00000382745.4 - 2 775 c.170G>C c.(169-171)gGa>gCa p.G57A CLCN7_ENST00000262318.8_Intron|CLCN7_ENST00000448525.1_Intron NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 57 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) GCTCATATGTCCGACTCGGAA 0.577000 6 14 0 0 1 0 0 E2F7 144455 broad.mit.edu 37 12 77449784 77449784 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:77449784C>G ENST00000322886.7 - 3 455 c.220G>C c.(220-222)Gac>Cac p.D74H E2F7_ENST00000416496.2_Missense_Mutation_p.D74H NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 74 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 TGCTGTCTGTCAACAAACTTA 0.433000 27 70 0 0 1 0 0 STK17A 9263 broad.mit.edu 37 7 43635649 43635649 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:43635649C>G ENST00000319357.5 + 2 535 c.356C>G c.(355-357)cCt>cGt p.P119R STK17A_ENST00000462448.1_3'UTR NM_004760.2 NP_004751.2 Q9UEE5 ST17A_HUMAN serine/threonine kinase 17a 119 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 CAAGACAATCCTTGGGTCATT 0.338000 11 105 0 0 1 0 0 MGST3 4259 broad.mit.edu 37 1 165624623 165624623 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:165624623G>A ENST00000367889.3 + 6 781 c.341G>A c.(340-342)cGa>cAa p.R114Q MGST3_ENST00000367884.2_Missense_Mutation_p.R114Q|MGST3_ENST00000367888.4_Intron|MGST3_ENST00000367885.1_Missense_Mutation_p.R128Q|MGST3_ENST00000367886.2_Missense_Mutation_p.R128Q|MGST3_ENST00000367883.1_Missense_Mutation_p.R128Q NM_004528.3 NP_004519.1 O14880 MGST3_HUMAN microsomal glutathione S-transferase 3 114 leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glutathione peroxidase activity|glutathione transferase activity endometrium(1)|large_intestine(1)|lung(3)|prostate(1) 6 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Glutathione(DB00143) AAGCGTAGTCGAGGAGCCCTG 0.507000 11 30 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66436601 66436601 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:66436601C>T ENST00000383703.3 - 14 2268 c.1665G>A c.(1663-1665)aaG>aaA p.K555K LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Silent_p.K531K|SLC25A26_ENST00000536651.1_Intron Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 531 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) CATTGTCTTTCTTCCAGGCAA 0.562000 17 212 0 0 1 0 0 LRCH3 84859 broad.mit.edu 37 3 197562592 197562592 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:197562592G>T ENST00000438796.2 + 9 1194 c.1150G>T c.(1150-1152)Gag>Tag p.E384* LRCH3_ENST00000441090.2_Nonsense_Mutation_p.E258*|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.E384*|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000425562.2_Nonsense_Mutation_p.E384*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.E384* Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 384 Poly-Glu. extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) CTGCACCGCAGAGGAAGAGGA 0.493000 8 85 5.18039e-06 5.35269e-06 1 1 0 DNAH11 8701 broad.mit.edu 37 7 21788243 21788243 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:21788243C>G ENST00000328843.6 + 53 8608 c.8577C>G c.(8575-8577)ctC>ctG p.L2859L DNAH11_ENST00000409508.3_Silent_p.L2852L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2859 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GCTGTGCTCTCTTGGTTGGAG 0.562000 Kartagener syndrome 12 37 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32724726 32724726 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:32724726G>A ENST00000421745.2 + 46 8715 c.8581G>A c.(8581-8583)Gaa>Aaa p.E2861K NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2861 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TGCCGTGATAGAATCGGTTAC 0.448000 18 84 0 0 1 0 0 C14orf93 60686 broad.mit.edu 37 14 23456700 23456700 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:23456700G>C ENST00000299088.6 - 7 1770 c.1341C>G c.(1339-1341)ttC>ttG p.F447L C14orf93_ENST00000397379.3_Missense_Mutation_p.F447L|C14orf93_ENST00000341470.4_Intron|C14orf93_ENST00000397377.1_Missense_Mutation_p.F267L|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000397382.4_Missense_Mutation_p.F447L|C14orf93_ENST00000406429.2_Intron|RP11-298I3.4_ENST00000556503.1_RNA NM_001130708.1|NM_021944.2 NP_001124180.1|NP_068763.2 Q9H972 CN093_HUMAN chromosome 14 open reading frame 93 447 extracellular region kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 17 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) GCTGGGCCCGGAAACGGGGAG 0.577000 9 51 0 0 1 0 0 MIR329-2 574409 broad.mit.edu 37 14 101493451 101493451 + RNA SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:101493451G>C ENST00000385029.1 + 0 15 NR_029968.1 TACCTGAAGAGAGGTTTTCTG 0.453000 4 105 0 0 1 0 0 ARID4B 51742 broad.mit.edu 37 1 235345314 235345314 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:235345314C>T ENST00000264183.3 - 20 3417 c.2920G>A c.(2920-2922)Gaa>Aaa p.E974K ARID4B_ENST00000349213.3_Missense_Mutation_p.E888K|ARID4B_ENST00000366603.2_Missense_Mutation_p.E974K NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 974 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) CTCTCCTCTTCAGCCACAGTC 0.498000 16 107 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27450851 27450851 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:27450851C>G ENST00000295736.5 - 13 1980 c.1910G>C c.(1909-1911)aGa>aCa p.R637T SLC4A7_ENST00000440156.1_Missense_Mutation_p.R633T|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R513T|SLC4A7_ENST00000437179.1_Missense_Mutation_p.R518T|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R633T|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R522T|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R629T|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R518T|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R187T|SLC4A7_ENST00000425128.2_Intron|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R646T NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 637 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 ACTCACTATTCTGCCTTCTGT 0.438000 9 303 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45293233 45293233 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:45293233C>A ENST00000447098.2 - 15 2223 c.2212G>T c.(2212-2214)Gag>Tag p.E738* PTCH2_ENST00000372192.3_Nonsense_Mutation_p.E738* NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 738 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity p.E738K(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) AGGGCCACCTCGTACAGGGAG 0.642000 Basal Cell Nevus syndrome 5 43 0.184627 0.185224 1 1 0 WBP1L 54838 broad.mit.edu 37 10 104573054 104573054 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:104573054C>G ENST00000369889.4 + 4 1137 c.995C>G c.(994-996)tCt>tGt p.S332C WBP1L_ENST00000448841.1_Missense_Mutation_p.S353C NM_017787.4 NP_060257.4 Q9NX94 OPA1L_HUMAN WW domain binding protein 1-like 332 integral to membrane GAGCAGGACTCTCCCAACTCC 0.637000 3 23 0 0 1 0 0 TRIM23 373 broad.mit.edu 37 5 64914022 64914022 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:64914022G>C ENST00000231524.9 - 2 513 c.142C>G c.(142-144)Ctt>Gtt p.L48V TRIM23_ENST00000274327.7_Missense_Mutation_p.L48V|TRIM23_ENST00000381018.3_Missense_Mutation_p.L48V NM_001656.3 NP_001647.1 P36406 TRI23_HUMAN tripartite motif containing 23 48 interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 28 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) CAAAGCAAAAGACGGGGAACT 0.433000 16 48 0 0 1 0 0 TEX261 113419 broad.mit.edu 37 2 71218973 71218973 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:71218973G>A ENST00000606025.1 - 3 869 c.291C>T c.(289-291)ttC>ttT p.F97F TEX261_ENST00000466731.1_5'UTR|TEX261_ENST00000272438.4_Silent_p.F97F ACGACAGGATGAAGTTAGGCG 0.557000 7 14 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30632641 30632641 + Silent SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:30632641G>C ENST00000376442.3 - 7 1449 c.1254C>G c.(1252-1254)ctC>ctG p.L418L NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 418 Helicase ATP-binding. mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 CTTCAATGATGAGGACTTGGT 0.577000 4 49 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44598196 44598196 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:44598196G>A ENST00000322927.2 - 3 436 c.336C>T c.(334-336)ctC>ctT p.L112L ZNF335_ENST00000426788.1_Intron NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) TGGGGTCTGGGAGTGCACTAG 0.612000 OREG0025987 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 47 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27499770 27499770 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:27499770C>T ENST00000396271.3 - 9 1303 c.1177G>A c.(1177-1179)Gaa>Aaa p.E393K ACBD5_ENST00000375901.1_Missense_Mutation_p.E284K|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Missense_Mutation_p.E216K|ACBD5_ENST00000375888.1_Missense_Mutation_p.E402K|ACBD5_ENST00000375905.4_Missense_Mutation_p.E358K NM_001271512.1|NM_145698.3 NP_001258441.1|NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 402 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 TTAGAGAATTCGTCAGTTTCT 0.458000 30 67 0 0 1 0 0 ARMC7 79637 broad.mit.edu 37 17 73106398 73106398 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:73106398G>A ENST00000245543.1 + 1 317 c.15G>A c.(13-15)ccG>ccA p.P5P ARMC7_ENST00000584947.1_Silent_p.P5P|ARMC7_ENST00000582136.1_Silent_p.P5P|ARMC7_ENST00000581078.1_Silent_p.P5P NM_024585.2 NP_078861.1 Q9H6L4 ARMC7_HUMAN armadillo repeat containing 7 5 binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3) 9 all_lung(278;0.14)|Lung NSC(278;0.168) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) CCCAGAAGCCGAAGGTGGACC 0.682000 8 35 0 0 1 0 0 CLUAP1 23059 broad.mit.edu 37 16 3554826 3554826 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:3554826G>A ENST00000571025.1 + 2 179 c.129G>A c.(127-129)gtG>gtA p.V43V LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000417763.2_5'UTR|CLUAP1_ENST00000341633.5_Silent_p.V43V|CLUAP1_ENST00000576634.1_Silent_p.V43V Q96AJ1 CLUA1_HUMAN clusterin associated protein 1 43 nucleus protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2) 16 TCTGGCTTGTGAAAAGGTTCG 0.413000 7 32 0 0 1 0 0 SOX9 6662 broad.mit.edu 37 17 70120204 70120204 + Silent SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:70120204G>C ENST00000245479.2 + 3 1578 c.1206G>C c.(1204-1206)ctG>ctC p.L402L NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 402 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) CGGAGCAGCTGAGCCCCAGCC 0.677000 11 83 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131136308 131136308 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:131136308C>T ENST00000357668.1 - 17 1585 c.1558G>A c.(1558-1560)Gaa>Aaa p.E520K ASAP1_ENST00000518721.1_Missense_Mutation_p.E520K Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 520 Arf-GAP. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 AAATTTGCTTCCATAATATCA 0.323000 23 27 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135202115 135202115 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:135202115G>C ENST00000372169.2 - 10 5052 c.4870C>G c.(4870-4872)Cta>Gta p.L1624V SETX_ENST00000393220.1_Missense_Mutation_p.L1624V|SETX_ENST00000224140.5_Missense_Mutation_p.L1624V Q7Z333 SETX_HUMAN senataxin 1624 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TTATTTTTTAGAGACGGTGAA 0.403000 6 91 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48734210 48734210 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:48734210C>G ENST00000314191.2 - 66 9119 c.9063G>C c.(9061-9063)gaG>gaC p.E3021D PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E3021D NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3022 FAT.|KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CTGGGGGGTTCTCACTGTCTA 0.373000 Non-homologous end-joining 10 8 0 0 1 0 0 FAM84A 151354 broad.mit.edu 37 2 14774168 14774168 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:14774168C>T ENST00000295092.2 + 2 353 c.65C>T c.(64-66)tCg>tTg p.S22L FAM84A_ENST00000331243.4_Missense_Mutation_p.S22L NM_145175.2 NP_660158.2 Q96KN4 FA84A_HUMAN family with sequence similarity 84, member A 22 endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(1;0.00969) GGGGACCCGTCGGGGATTGAA 0.617000 5 25 0 0 1 0 0 KCNK5 8645 broad.mit.edu 37 6 39159364 39159364 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:39159364C>T ENST00000359534.3 - 5 1140 c.802G>A c.(802-804)Gag>Aag p.E268K NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 268 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 GGGGAGCTCTCAAAGGACTCC 0.557000 19 107 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47422907 47422907 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:47422907C>G ENST00000404338.3 + 1 975 c.975C>G c.(973-975)atC>atG p.I325M NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 325 FF 1. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity TACAGCACATCCACCGCCTCA 0.493000 7 14 0 0 1 0 0 LMTK3 114783 broad.mit.edu 37 19 49004780 49004780 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:49004780C>T ENST00000600059.1 - 8 1061 c.834G>A c.(832-834)ctG>ctA p.L278L LMTK3_ENST00000270238.3_Silent_p.L307L lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) TGCGCACGGTCAGGTCAGAGG 0.687000 4 8 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21161726 21161726 + Silent SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr22:21161726G>C ENST00000255882.6 - 10 1178 c.1092C>G c.(1090-1092)ctC>ctG p.L364L PI4KA_ENST00000572273.1_Silent_p.L306L NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 306 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) AAGTGTAGTAGAGATCAGCAC 0.522000 3 29 0 0 1 0 0 GART 2618 broad.mit.edu 37 21 34900617 34900617 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr21:34900617C>T ENST00000381831.3 - 10 1185 c.922G>A c.(922-924)Gat>Aat p.D308N GART_ENST00000361093.5_Missense_Mutation_p.D308N|GART_ENST00000381815.4_Missense_Mutation_p.D308N|GART_ENST00000381839.3_Missense_Mutation_p.D308N NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 308 ATP-grasp. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) TCATAAAGATCACTTTTAAGA 0.413000 4 32 0 0 1 0 0 KIAA1919 91749 broad.mit.edu 37 6 111588154 111588154 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:111588154G>A ENST00000368847.4 + 4 1742 c.1389G>A c.(1387-1389)atG>atA p.M463I NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 463 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) ATGATACAATGAGGCATTCTA 0.393000 34 33 0 0 1 0 0 TIMP4 7079 broad.mit.edu 37 3 12195152 12195152 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:12195152C>G ENST00000287814.4 - 5 1048 c.538G>C c.(538-540)Gac>Cac p.D180H SYN2_ENST00000432424.2_RNA NM_003256.3 NP_003247.1 Q99727 TIMP4_HUMAN TIMP metallopeptidase inhibitor 4 180 metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 AACAGCCAGTCTGTCCAGAGG 0.537000 8 90 0 0 1 0 0 TEKT5 146279 broad.mit.edu 37 16 10769914 10769914 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:10769914G>T ENST00000283025.2 - 5 1059 c.988C>A c.(988-990)Cag>Aag p.Q330K NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 330 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 CTCCACATCTGATCCGACAAG 0.552000 26 58 3.28513e-13 3.50313e-13 1 1 0 OR2T33 391195 broad.mit.edu 37 1 248436323 248436323 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:248436323G>A ENST00000318021.2 - 1 815 c.794C>T c.(793-795)tCc>tTc p.S265F NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATGGTTAGTGGACCTATGGGA 0.483000 19 108 0 0 1 0 0 LIN9 286826 broad.mit.edu 37 1 226465500 226465500 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:226465500G>C ENST00000328205.5 - 7 1251 c.706C>G c.(706-708)Ctg>Gtg p.L236V LIN9_ENST00000481685.1_Missense_Mutation_p.L201V|LIN9_ENST00000366801.1_Missense_Mutation_p.L185V NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 homolog (C. elegans) 220 Sufficient for interaction with RB1. cell cycle|DNA replication nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) CCAATAACCAGAGGCAAAGGA 0.333000 4 67 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196883771 196883771 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:196883771G>A ENST00000367416.2 + 8 1461 c.1324G>A c.(1324-1326)Gat>Aat p.D442N CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367418.2_Missense_Mutation_p.D196N|CFHR4_ENST00000251424.4_Missense_Mutation_p.D196N|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 GTGTGGTGAAGATGGGTGGTC 0.348000 14 52 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209189749 209189749 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:209189749C>T ENST00000264380.4 + 19 2604 c.2446C>T c.(2446-2448)Cag>Tag p.Q816* NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 816 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 GCAGATATTTCAGTTGCCTAA 0.373000 26 66 0 0 1 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111933019 111933019 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr13:111933019C>A ENST00000375741.2 + 16 2033 c.1783C>A c.(1783-1785)Cat>Aat p.H595N ARHGEF7_ENST00000375723.1_Missense_Mutation_p.H417N|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.H417N|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.H502N|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.H417N|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.H574N|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.H417N|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.H339N|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.H492N|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.H545N NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 595 H -> D (in Ref. 7; BAD66827). apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) AGTGCCATCTCATACCGTAAG 0.522000 25 28 4.22769e-11 4.48261e-11 1 1 0 CEP78 84131 broad.mit.edu 37 9 80881641 80881641 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:80881641C>T ENST00000415759.2 + 15 2273 c.2084C>T c.(2083-2085)tCt>tTt p.S695F CEP78_ENST00000277082.5_Missense_Mutation_p.S694F|CEP78_ENST00000376598.2_Intron|CEP78_ENST00000376597.4_Missense_Mutation_p.S711F|CEP78_ENST00000424347.2_Intron NM_032171.1 NP_115547.1 Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa 0 G2/M transition of mitotic cell cycle centrosome|cytosol breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 21 AAAAAACACTCTGATAAGCAA 0.393000 3 18 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60130008 60130008 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:60130008G>C ENST00000397786.2 - 3 436 c.360C>G c.(358-360)ttC>ttG p.F120L NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 120 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GAACTGCTTTGAAAAGCAGAG 0.348000 38 130 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120347414 120347414 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:120347414C>T ENST00000397843.2 + 34 3488 c.3322C>T c.(3322-3324)Cag>Tag p.Q1108* ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.Q1005*|ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.Q1089* NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1108 PH. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CAATGGCGCTCAGATTTATGA 0.393000 T MLL AML 14 55 0 0 1 0 0 VSTM2A 222008 broad.mit.edu 37 7 54636732 54636732 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:54636732C>A ENST00000407838.3 + 5 1071 c.665C>A c.(664-666)tCt>tAt p.S222Y GS1-18A18.1_ENST00000456049.1_RNA|VSTM2A_ENST00000498834.1_Intron|VSTM2A_ENST00000404951.1_Intron|VSTM2A_ENST00000402613.3_Intron NM_182546.2 NP_872352.2 Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 222 extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) CATGGACTTTCTGTCCTGCTT 0.393000 6 33 0.307466 0.308127 1 1 0 RIOK2 55781 broad.mit.edu 37 5 96504514 96504514 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:96504514C>T ENST00000283109.3 - 7 890 c.822G>A c.(820-822)atG>atA p.M274I RIOK2_ENST00000508447.1_Missense_Mutation_p.M274I|CTD-2215E18.1_ENST00000509481.1_Intron NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 274 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) TGAAACGTTTCATAAAGAAAT 0.313000 16 61 0 0 1 0 0 MAN2B1 4125 broad.mit.edu 37 19 12759051 12759051 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:12759051G>A ENST00000456935.2 - 21 2642 c.2602C>T c.(2602-2604)Cag>Tag p.Q868* CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.S54L|MAN2B1_ENST00000221363.4_Nonsense_Mutation_p.Q867* NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 868 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AGCACCACCTGAGGGGCCAGG 0.741000 4 9 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168114866 168114866 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:168114866C>G ENST00000409728.1 + 11 1998 c.1909C>G c.(1909-1911)Cta>Gta p.L637V XIRP2_ENST00000409756.2_Missense_Mutation_p.L604V|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.L604V|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.L637V|XIRP2_ENST00000409605.1_Missense_Mutation_p.L382V NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2715 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GCAGCCTTATCTACAGTCCAC 0.368000 24 56 0 0 1 0 0 CRISPLD1 83690 broad.mit.edu 37 8 75924732 75924732 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:75924732G>A ENST00000262207.4 + 3 791 c.323G>A c.(322-324)gGa>gAa p.G108E CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_5'UTR|CRISPLD1_ENST00000519798.1_3'UTR NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 108 extracellular region biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) TGGGAACATGGACCTGCAAGC 0.398000 7 113 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18028057 18028057 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr22:18028057C>T ENST00000400573.5 + 17 3021 c.3014C>T c.(3013-3015)tCg>tTg p.S1005L CECR2_ENST00000262608.8_Missense_Mutation_p.S1006L|CECR2_ENST00000400585.2_Missense_Mutation_p.S863L Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) CCCTGGCCCTCGGATAGCAGC 0.597000 7 13 0 0 1 0 0 OR4P4 81300 broad.mit.edu 37 11 55406235 55406235 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:55406235G>A ENST00000314612.2 + 1 402 c.402G>A c.(400-402)atG>atA p.M134I NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 CCATTATTATGAGCAGGCAAA 0.433000 5 70 0 0 1 0 0 VPS4A 27183 broad.mit.edu 37 16 69352557 69352557 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:69352557G>A ENST00000254950.11 + 4 442 c.286G>A c.(286-288)Gac>Aac p.D96N RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.D120N NM_013245.2 NP_037377.1 Q9UN37 VPS4A_HUMAN vacuolar protein sorting 4 homolog A (S. cerevisiae) 96 cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7 Ovarian(137;0.101) TCCCAGCAGTGACAGTGACAG 0.582000 3 12 0 0 1 0 0 KLC4 89953 broad.mit.edu 37 6 43034073 43034073 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:43034073C>G ENST00000394056.2 + 6 1096 c.601C>G c.(601-603)Cag>Gag p.Q201E KLC4_ENST00000458460.2_Missense_Mutation_p.Q201E|KLC4_ENST00000347162.5_Missense_Mutation_p.Q201E|KLC4_ENST00000259708.3_Missense_Mutation_p.Q219E|KLC4_ENST00000394058.1_Missense_Mutation_p.Q201E|KLC4_ENST00000453940.2_Missense_Mutation_p.Q124E|KLC4_ENST00000479388.1_Missense_Mutation_p.Q201E Q9NSK0 KLC4_HUMAN kinesin light chain 4 201 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) TACAGCAGCTCAGCAGGGTGG 0.552000 5 63 0 0 1 0 0 RARS2 57038 broad.mit.edu 37 6 88265146 88265146 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:88265146C>A ENST00000369536.5 - 5 420 c.375G>T c.(373-375)aaG>aaT p.K125N NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 125 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) CCACAATCTTCTTCTGGGGAA 0.388000 19 25 1.28384e-07 1.34292e-07 1 1 0 TMEM9 252839 broad.mit.edu 37 1 201120971 201120971 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:201120971C>G ENST00000367330.1 - 2 592 c.76G>C c.(76-78)Gat>Cat p.D26H TMEM9_ENST00000485839.2_Missense_Mutation_p.D26H|TMEM9_ENST00000367332.1_Missense_Mutation_p.D29H|TMEM9_ENST00000367333.2_Missense_Mutation_p.D26H|TMEM9_ENST00000367334.5_Missense_Mutation_p.D26H Q9P0T7 TMEM9_HUMAN transmembrane protein 9 26 transport integral to membrane|late endosome membrane|lysosomal membrane liver(1)|lung(1)|stomach(1) 3 Breast(1374;0.000301) CACCGGATATCTTCAGAACTC 0.478000 14 142 0 0 1 0 0 TRIM45 80263 broad.mit.edu 37 1 117663656 117663656 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:117663656C>T ENST00000256649.4 - 1 694 c.168G>A c.(166-168)ctG>ctA p.L56L TRIM45_ENST00000369461.3_Intron|TRIM45_ENST00000369464.3_Silent_p.L56L NM_025188.3 NP_079464.2 Q9H8W5 TRI45_HUMAN tripartite motif containing 45 56 cytoplasm|nucleus zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1) 23 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) AGAAGGGCTCCAGCTGCTCCA 0.557000 22 57 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 4020373 4020373 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:4020373G>A ENST00000381638.2 - 3 711 c.587C>T c.(586-588)tCc>tTc p.S196F ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 196 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CACCGCGCTGGAGAGCCGATT 0.512000 10 113 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654033 46654033 + Silent SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr22:46654033G>C ENST00000253255.5 - 1 5186 c.5187C>G c.(5185-5187)gtC>gtG p.V1729V NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1729 V -> I (in dbSNP:rs9626829). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GACGTAGTAAGACGATAAGGA 0.383000 8 37 0 0 1 0 0 SF3A3 10946 broad.mit.edu 37 1 38445202 38445202 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:38445202C>G ENST00000373019.4 - 9 1649 c.694G>C c.(694-696)Gag>Cag p.E232Q SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Missense_Mutation_p.E179Q NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 232 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CTGCTTGTCTCTTTCTGGAAA 0.483000 7 30 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9311135 9311135 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:9311135G>C ENST00000261336.2 - 26 3203 c.3175C>G c.(3175-3177)Cga>Gga p.R1059G PZP_ENST00000381997.2_Missense_Mutation_p.R845G NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 ATGTAGGATCGAGCCTGGGCG 0.488000 9 41 0 0 1 0 0 FABP5P3 220832 broad.mit.edu 37 7 152139736 152139736 + RNA SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:152139736G>A ENST00000477993.1 + 0 491 NR_002935.1 AAAAATGGGCGCAATGGCCAA 0.448000 4 44 0 0 1 0 0 EHD4 30844 broad.mit.edu 37 15 42211776 42211776 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:42211776C>A ENST00000220325.4 - 4 639 c.556G>T c.(556-558)Gac>Tac p.D186Y NM_139265.3 NP_644670.1 Q9H223 EHD4_HUMAN EH-domain containing 4 186 endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1) 20 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) ATGATCCTGTCCACCCTCTCG 0.552000 9 29 2.17888e-05 2.23893e-05 1 1 0 ZNF594 84622 broad.mit.edu 37 17 5086556 5086556 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:5086556G>T ENST00000399604.4 - 1 1136 c.996C>A c.(994-996)ttC>ttA p.F332L ZNF594_ENST00000575779.1_Missense_Mutation_p.F332L Q96JF6 ZN594_HUMAN zinc finger protein 594 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TGCGCCCACTGAAGGTCTTCC 0.453000 29 118 2.46105e-21 2.664e-21 1 1 0 OR2AE1 81392 broad.mit.edu 37 7 99473757 99473757 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:99473757C>G ENST00000316368.2 - 1 923 c.900G>C c.(898-900)ctG>ctC p.L300L NM_001005276.1 NP_001005276.1 Q8NHA4 O2AE1_HUMAN olfactory receptor, family 2, subfamily AE, member 1 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2) 11 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) GCACTCTTCTCAGAGCCTTAG 0.423000 34 113 0 0 1 0 0 TREML1 340205 broad.mit.edu 37 6 41119114 41119114 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:41119114C>T ENST00000373127.4 - 3 433 c.385G>A c.(385-387)Gaa>Aaa p.E129K TREML1_ENST00000437044.2_Missense_Mutation_p.E18K|TREML1_ENST00000426005.2_Missense_Mutation_p.E129K NM_001271807.1 NP_001258736.1 Q86YW5 TRML1_HUMAN triggering receptor expressed on myeloid cells-like 1 129 Poly-Glu. calcium-mediated signaling|innate immune response|platelet activation cell surface|integral to membrane|plasma membrane|platelet alpha granule protein binding|receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) TGGGTCTCTTCTTCTTCCTCT 0.512000 11 53 0 0 1 0 0 ZACN 353174 broad.mit.edu 37 17 74077786 74077786 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:74077786C>T ENST00000334586.5 + 7 913 c.830C>T c.(829-831)tCc>tTc p.S277F EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 277 Leu-rich. response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 GTCCTCCACTCCTCCCTGGTG 0.632000 7 85 0 0 1 0 0 PLK1 5347 broad.mit.edu 37 16 23700964 23700964 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:23700964C>T ENST00000300093.4 + 9 1686 c.1575C>T c.(1573-1575)ctC>ctT p.L525L NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 525 POLO box 2. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding p.L525L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) TCCTGCACCTCAGCAACGGCA 0.652000 3 15 0 0 1 0 0 HN1L 90861 broad.mit.edu 37 16 1748954 1748954 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:1748954G>C ENST00000248098.3 + 5 585 c.528G>C c.(526-528)aaG>aaC p.K176N HN1L_ENST00000382711.5_Missense_Mutation_p.K160N|HN1L_ENST00000569765.1_3'UTR|HN1L_ENST00000382710.4_Missense_Mutation_p.K164N|HN1L_ENST00000562684.1_Missense_Mutation_p.K204N|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000561516.1_3'UTR NM_144570.2 NP_653171.1 Q9H910 HN1L_HUMAN hematological and neurological expressed 1-like 176 cytoplasm|nucleus endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1) 9 CTCACAACAAGGTCCTGAACC 0.627000 8 60 0 0 1 0 0 ARMC7 79637 broad.mit.edu 37 17 73106392 73106392 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:73106392G>A ENST00000245543.1 + 1 311 c.9G>A c.(7-9)caG>caA p.Q3Q ARMC7_ENST00000584947.1_Silent_p.Q3Q|ARMC7_ENST00000582136.1_Silent_p.Q3Q|ARMC7_ENST00000581078.1_Silent_p.Q3Q NM_024585.2 NP_078861.1 Q9H6L4 ARMC7_HUMAN armadillo repeat containing 7 3 binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3) 9 all_lung(278;0.14)|Lung NSC(278;0.168) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) CCATGGCCCAGAAGCCGAAGG 0.687000 6 29 0 0 1 0 0 FADS3 3995 broad.mit.edu 37 11 61646008 61646008 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:61646008G>A ENST00000540820.1 - 5 795 c.723C>T c.(721-723)ttC>ttT p.F241F FADS3_ENST00000525588.1_Silent_p.F213F|FADS3_ENST00000278829.2_Silent_p.F241F|FADS3_ENST00000527697.1_Silent_p.F117F Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 241 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CCCCCAGGAGGAAGACGGGCG 0.647000 6 52 0 0 1 0 0 ADIG 149685 broad.mit.edu 37 20 37209989 37209989 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:37209989C>T ENST00000537425.1 + 1 152 c.81C>T c.(79-81)atC>atT p.I27I ADIG_ENST00000373348.3_Silent_p.I32I NM_001018082.1 NP_001018092.1 Q0VDE8 ADIG_HUMAN adipogenin 32 brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation cytoplasm|integral to membrane|nucleus endometrium(1)|kidney(1) 2 Myeloproliferative disorder(115;0.00878) TGTTATTGATCATCTGGCTAC 0.527000 14 63 0 0 1 0 0 CTSD 1509 broad.mit.edu 37 11 1774826 1774826 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:1774826G>A ENST00000236671.2 - 9 1278 c.1146C>T c.(1144-1146)ctC>ctT p.L382L RP11-295K3.1_ENST00000427721.1_Intron NM_001909.4 NP_001900.1 P07339 CATD_HUMAN cathepsin D 382 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(8) 13 all_epithelial(84;0.00018)|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;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCAGGATCCAGAGTGGCCCGC 0.647000 31 27 0 0 1 0 0 KIF5C 3800 broad.mit.edu 37 2 149864527 149864527 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:149864527G>A ENST00000435030.1 + 23 2864 c.2496G>A c.(2494-2496)caG>caA p.Q832Q KIF5C_ENST00000397413.1_Silent_p.Q600Q|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.Q737Q O60282 KIF5C_HUMAN kinesin family member 5C 832 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) CCCAGAAGCAGAAAATTTCCT 0.557000 5 31 0 0 1 0 0 ZNF570 148268 broad.mit.edu 37 19 37975753 37975753 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:37975753G>C ENST00000330173.1 + 5 1758 c.1229G>C c.(1228-1230)gGa>gCa p.G410A ZNF570_ENST00000586475.1_Missense_Mutation_p.G466A|ZNF570_ENST00000388801.3_Missense_Mutation_p.G207A NM_144694.1 NP_653295.1 Q96NI8 ZN570_HUMAN zinc finger protein 570 410 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTCATACTGGAGAAAAACCT 0.423000 10 93 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322162 55322162 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:55322162C>T ENST00000314644.2 + 1 380 c.380C>T c.(379-381)tCa>tTa p.S127L NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 GCGTGCTTCTCATCTGTCATC 0.453000 HNSCC(20;0.049) 4 116 0 0 1 0 0 LMTK3 114783 broad.mit.edu 37 19 49003121 49003121 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:49003121G>A ENST00000600059.1 - 11 1432 c.1205C>T c.(1204-1206)tCt>tTt p.S402F LMTK3_ENST00000270238.3_Missense_Mutation_p.S431F lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) TTGGAGATCAGAGGCTGAAGG 0.687000 3 4 0 0 1 0 0 PDZD7 79955 broad.mit.edu 37 10 102777990 102777990 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:102777990C>T ENST00000370215.3 - 9 1613 c.1388G>A c.(1387-1389)cGc>cAc p.R463H NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 463 cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CGTCTTGGAGCGCTGCAGGGC 0.672000 9 35 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35853176 35853176 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:35853176C>T ENST00000314607.6 + 13 2314 c.2234C>T c.(2233-2235)tCa>tTa p.S745L ZMYM4_ENST00000373297.2_Missense_Mutation_p.S656L NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 745 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTTCGGTTCTCAGGTGCTGAC 0.333000 9 94 0 0 1 0 0 CHST12 55501 broad.mit.edu 37 7 2472763 2472763 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:2472763C>T ENST00000258711.6 + 2 624 c.489C>T c.(487-489)caC>caT p.H163H NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 163 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) ACGACCGGCACGGGGCCATCT 0.657000 42 84 0 0 1 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61299107 61299107 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:61299107G>A ENST00000217159.1 + 8 1688 c.1483G>A c.(1483-1485)Gaa>Aaa p.E495K SLCO4A1_ENST00000370507.1_Missense_Mutation_p.E495K|SLCO4A1_ENST00000470412.1_3'UTR NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 495 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) CCTCCTGCCCGAAGGCCACCT 0.667000 16 50 0 0 1 0 0 CDK9 1025 broad.mit.edu 37 9 130549865 130549865 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:130549865G>C ENST00000373265.2 + 3 594 c.594G>C c.(592-594)ttG>ttC p.L198F CDK9_ENST00000480353.1_3'UTR|CDK9_ENST00000373264.4_Missense_Mutation_p.L81F P50750 CDK9_HUMAN cyclin-dependent kinase 9 81 Protein kinase. cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription elongation factor complex ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(1) 1 TGGTCAACTTGATTGAGATTT 0.433000 11 79 0 0 1 0 0 CCT7 10574 broad.mit.edu 37 2 73476292 73476292 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:73476292G>A ENST00000539919.1 + 9 1196 c.825G>A c.(823-825)ctG>ctA p.L275L CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000258091.5_Silent_p.L319L|CCT7_ENST00000537131.1_Silent_p.L219L|CCT7_ENST00000540468.1_Silent_p.L232L|CCT7_ENST00000538797.1_Silent_p.L191L|CCT7_ENST00000398422.2_Silent_p.L115L NM_001166285.1 NP_001159757.1 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 (eta) 319 'de novo' posttranslational protein folding ATP binding|unfolded protein binding breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 AGGAGGATCTGAAGAGGACAA 0.517000 8 19 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713164 142713164 + RNA SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:142713164C>A ENST00000610091.1 - 0 2494 CACGGATTTTCATGTTGGAGA 0.358000 24 62 6.12954e-19 6.60431e-19 1 1 0 COL25A1 84570 broad.mit.edu 37 4 109745335 109745335 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr4:109745335C>T ENST00000399132.1 - 35 2370 c.1840G>A c.(1840-1842)Gaa>Aaa p.E614K COL25A1_ENST00000399127.1_Missense_Mutation_p.E617K|COL25A1_ENST00000399126.1_Missense_Mutation_p.E614K NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 614 Collagen-like 7. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GTCACCTTTTCTCCCTTTTCT 0.438000 19 42 0 0 1 0 0 HIST1H2BO 8348 broad.mit.edu 37 6 27861411 27861411 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:27861411G>A ENST00000303806.4 + 1 209 c.171G>A c.(169-171)tcG>tcA p.S57S NM_003527.4 NP_003518.2 P23527 H2B1O_HUMAN histone cluster 1, H2bo 57 nucleosome assembly nucleosome|nucleus DNA binding GCATCTCATCGAAGGCCATGG 0.552000 6 187 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180017752 180017752 + Missense_Mutation SNP G G C rs147341889 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:180017752G>C ENST00000367607.3 + 22 5122 c.4704G>C c.(4702-4704)aaG>aaC p.K1568N NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1568 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 ATGGTGAAAAGATAGAGAGTT 0.393000 23 16 0 0 1 0 0 ABTB1 80325 broad.mit.edu 37 3 127396314 127396314 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:127396314C>A ENST00000468137.1 + 8 959 c.343C>A c.(343-345)Ctt>Att p.L115I ABTB1_ENST00000453791.2_Missense_Mutation_p.L115I|ABTB1_ENST00000232744.8_Missense_Mutation_p.L257I|ABTB1_ENST00000393363.3_Missense_Mutation_p.L115I Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 257 BTB 1. cytoplasm|nucleolus|plasma membrane translation elongation factor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 CCAGGGTGATCTTTGGGAGCT 0.557000 25 67 2.36697e-06 2.45933e-06 1 1 0 CEACAM18 729767 broad.mit.edu 37 19 51981818 51981818 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:51981818G>A ENST00000451626.1 + 2 105 c.105G>A c.(103-105)gaG>gaA p.E35E A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 35 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGTGCCAGGAGACACAGGTCT 0.657000 4 3 0 0 1 0 0 SLU7 10569 broad.mit.edu 37 5 159835366 159835366 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:159835366C>T ENST00000297151.4 - 8 1176 c.789G>A c.(787-789)cgG>cgA p.R263R NM_006425.4 NP_006416.3 O95391 SLU7_HUMAN SLU7 splicing factor homolog (S. cerevisiae) 263 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1) 20 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCTGAGATTCCGGACAGTAA 0.343000 9 38 0 0 1 0 0 PAOX 196743 broad.mit.edu 37 10 135193706 135193706 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:135193706G>A ENST00000278060.5 + 2 468 c.385G>A c.(385-387)Gag>Aag p.E129K PAOX_ENST00000368539.4_Intron|PAOX_ENST00000357296.3_Missense_Mutation_p.E129K|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Missense_Mutation_p.E129K NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 267 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) GCTGGTGGCGGAGATGGCGAC 0.672000 7 21 0 0 1 0 0 PURG 29942 broad.mit.edu 37 8 30889906 30889906 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:30889906C>G ENST00000475541.1 - 1 1325 c.393G>C c.(391-393)ctG>ctC p.L131L PURG_ENST00000339382.2_Silent_p.L131L NM_013357.2 NP_037489.1 Q9UJV8 PURG_HUMAN purine-rich element binding protein G 131 nucleus DNA binding endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) GGTGGCCTTTCAGGCCCAGGT 0.592000 40 46 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 230 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 10014034 10014034 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:10014034G>A ENST00000256190.8 - 12 1361 c.1224C>T c.(1222-1224)ctC>ctT p.L408L NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 408 dDENN. myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) CCATTCCACTGAGTACTTTAG 0.368000 9 24 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5564795 5564795 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr4:5564795G>T ENST00000310917.2 - 22 4198 c.3467C>A c.(3466-3468)tCt>tAt p.S1156Y EVC2_ENST00000344408.5_Missense_Mutation_p.S1236Y|EVC2_ENST00000344938.1_Intron NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 1236 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TCCTTTTCCAGAGAATATCAT 0.433000 12 99 4.36969e-10 4.62265e-10 1 1 0 ZNF221 7638 broad.mit.edu 37 19 44470675 44470675 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:44470675G>C ENST00000251269.5 + 6 1349 c.1021G>C c.(1021-1023)Gat>Cat p.D341H ZNF221_ENST00000587682.1_Missense_Mutation_p.D341H|ZNF221_ENST00000592350.1_Missense_Mutation_p.D341H NM_013359.2 NP_037491 Q9UK13 ZN221_HUMAN zinc finger protein 221 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) ATTCAGATGTGATACATGTGG 0.403000 61 53 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40400285 40400285 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:40400285C>T ENST00000338305.6 - 2 1110 c.568G>A c.(568-570)Gag>Aag p.E190K NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 190 cell junction|integral to membrane|postsynaptic membrane 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) AAGGTGCCCTCGGCGATGTGA 0.627000 4 56 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131488773 131488773 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:131488773C>T ENST00000261654.5 + 11 1746 c.1187C>T c.(1186-1188)tCc>tTc p.S396F GPR133_ENST00000376682.4_Missense_Mutation_p.S82F|GPR133_ENST00000535015.1_Missense_Mutation_p.S428F NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 396 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GTGAATTCCTCCCATTACCGC 0.622000 8 24 0 0 1 0 0 LRCH3 84859 broad.mit.edu 37 3 197562564 197562564 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:197562564G>C ENST00000438796.2 + 9 1166 c.1122G>C c.(1120-1122)caG>caC p.Q374H LRCH3_ENST00000441090.2_Missense_Mutation_p.Q248H|LRCH3_ENST00000414675.2_Missense_Mutation_p.Q374H|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000425562.2_Missense_Mutation_p.Q374H|LRCH3_ENST00000334859.4_Missense_Mutation_p.Q374H Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 374 extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) ATCTGGATCAGATTGACTACA 0.468000 4 61 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152551803 152551803 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:152551803G>A ENST00000367255.5 - 115 21675 c.21074C>T c.(21073-21075)tCa>tTa p.S7025L SYNE1_ENST00000265368.4_Missense_Mutation_p.S7025L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6954L|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6954L|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6637L|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1549L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7025 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCATATTCTGACCAAGATTC 0.328000 HNSCC(10;0.0054) 8 47 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44951276 44951276 + Splice_Site SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:44951276C>T ENST00000261866.7 - 3 684 c.e3+1 SPG11_ENST00000535302.2_Splice_Site|SPG11_ENST00000558319.1_Splice_Site|SPG11_ENST00000427534.2_Splice_Site|SPG11_ENST00000559193.1_Splice_Site NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) ACCAAGGATACAGATCCAGCC 0.428000 14 40 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 328063 328063 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:328063C>G ENST00000432829.2 + 9 1048 c.732C>G c.(730-732)ttC>ttG p.F244L DOCK8_ENST00000469391.1_Missense_Mutation_p.F244L|DOCK8_ENST00000453981.1_Missense_Mutation_p.F312L NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 312 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CTGACCAGTTCAAAGGATTTC 0.458000 18 75 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131569127 131569127 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:131569127G>A ENST00000261654.5 + 15 2149 c.1590G>A c.(1588-1590)acG>acA p.T530T GPR133_ENST00000376682.4_Silent_p.T216T|GPR133_ENST00000535015.1_Silent_p.T562T|GPR133_ENST00000543617.1_Silent_p.T49T NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 530 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GTGCGCTCACGAGAGGAAACC 0.622000 14 24 0 0 1 0 0 YY1AP1 55249 broad.mit.edu 37 1 155630472 155630472 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:155630472G>A ENST00000368340.5 - 10 1691 c.1583C>T c.(1582-1584)tCa>tTa p.S528L YY1AP1_ENST00000311573.5_Missense_Mutation_p.S379L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.S399L|YY1AP1_ENST00000347088.5_Missense_Mutation_p.S410L|YY1AP1_ENST00000355499.4_Missense_Mutation_p.S410L|YY1AP1_ENST00000295566.4_Missense_Mutation_p.S456L|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000359205.5_Missense_Mutation_p.S399L|YY1AP1_ENST00000368339.5_Missense_Mutation_p.S548L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.S379L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.S390L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.S256L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.S410L NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TTTCAGGACTGATGAACGCTT 0.547000 6 94 0 0 1 0 0 ENTPD7 57089 broad.mit.edu 37 10 101445609 101445609 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:101445609C>G ENST00000370489.4 + 6 787 c.609C>G c.(607-609)ctC>ctG p.L203L NM_020354.3 NP_065087.1 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 7 203 cytoplasmic vesicle membrane|integral to membrane hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 18 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) TTGACTTCCTCTTTTCACAGT 0.463000 5 31 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40705350 40705350 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:40705350C>T ENST00000372771.4 + 8 5003 c.4976C>T c.(4975-4977)tCa>tTa p.S1659L NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 1659 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) GAAAGCAGCTCAGTATTTGAT 0.453000 31 21 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87045738 87045738 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:87045738G>T ENST00000370563.3 + 14 2512 c.2470G>T c.(2470-2472)Gaa>Taa p.E824* RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 824 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) CAACTCCAAGGAAAGCTTTGC 0.333000 12 42 3.07112e-06 3.18031e-06 1 1 0 KIAA1522 57648 broad.mit.edu 37 1 33236670 33236670 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:33236670C>G ENST00000401073.2 + 6 1960 c.1890C>G c.(1888-1890)ctC>ctG p.L630L KIAA1522_ENST00000373480.1_Silent_p.L571L|KIAA1522_ENST00000373481.3_Silent_p.L582L|KIAA1522_ENST00000294521.3_Intron NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 571 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCTCTTCCCTCACGTCTTTAT 0.632000 50 29 0 0 1 0 0 PIGG 54872 broad.mit.edu 37 4 524279 524279 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr4:524279G>A ENST00000453061.2 + 11 2422 c.2316G>A c.(2314-2316)acG>acA p.T772T PIGG_ENST00000504346.1_Silent_p.T683T|PIGG_ENST00000310340.5_Silent_p.T764T|PIGG_ENST00000383028.4_Silent_p.T639T|PIGG_ENST00000296306.7_3'UTR NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 772 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 TTCTGTTCACGGGCACCAAAG 0.383000 21 98 0 0 1 0 0 PCNXL4 64430 broad.mit.edu 37 14 60582007 60582007 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:60582007G>C ENST00000406854.1 + 4 1739 c.1185G>C c.(1183-1185)ttG>ttC p.L395F PCNXL4_ENST00000404681.2_Missense_Mutation_p.L395F|PCNXL4_ENST00000406949.1_Missense_Mutation_p.L161F|PCNXL4_ENST00000317623.4_Missense_Mutation_p.L161F pecanex-like 4 (Drosophila) GCTATGGTTTGATGATATTAC 0.363000 10 111 0 0 1 0 0 ACTA2 59 broad.mit.edu 37 10 90707057 90707057 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:90707057C>T ENST00000458208.1 - 3 690 c.216G>A c.(214-216)ccG>ccA p.P72P STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Silent_p.P72P|ACTA2_ENST00000480297.1_5'UTR NM_001141945.1 NP_001135417.1 P62736 ACTA_HUMAN actin, alpha 2, smooth muscle, aorta 72 response to virus cytosol ATP binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2) 17 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) CATGTTCTATCGGGTACTTCA 0.502000 12 101 0 0 1 0 0 SGMS2 166929 broad.mit.edu 37 4 108816809 108816809 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr4:108816809G>C ENST00000394684.4 + 3 657 c.100G>C c.(100-102)Gaa>Caa p.E34Q SGMS2_ENST00000394686.3_Missense_Mutation_p.E34Q|SGMS2_ENST00000359079.4_Missense_Mutation_p.E34Q|RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA NM_001136258.1 NP_001129730.1 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 34 sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1) 20 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) TGTTGAAGAAGAAAACAAAAA 0.423000 32 27 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98508873 98508873 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:98508873C>G ENST00000359863.4 + 17 2195 c.1986C>G c.(1984-1986)atC>atG p.I662M TRRAP_ENST00000446306.3_Missense_Mutation_p.I661M|TRRAP_ENST00000355540.3_Missense_Mutation_p.I662M NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 662 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGGAGAGAATCTCAAAAAATT 0.328000 9 50 0 0 1 0 0 ZNF699 374879 broad.mit.edu 37 19 9408643 9408643 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:9408643G>C ENST00000591998.1 - 4 427 c.199C>G c.(199-201)Ctg>Gtg p.L67V ZNF699_ENST00000308650.3_Missense_Mutation_p.L67V Q32M78 ZN699_HUMAN zinc finger protein 699 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGGGAGATCAGATGGGGTGTG 0.473000 3 67 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4016706 4016706 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:4016706C>T ENST00000294016.3 - 11 3670 c.3132G>A c.(3130-3132)ctG>ctA p.L1044L NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 1044 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GGGACACCTTCAGCTGCTCAG 0.582000 4 158 0 0 1 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37678388 37678388 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr13:37678388C>G ENST00000379800.3 - 1 1415 c.1006G>C c.(1006-1008)Gat>Cat p.D336H NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 336 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) GCTTAGTTATCTTTCACATTA 0.463000 8 22 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8130921 8130921 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:8130921C>T ENST00000600128.1 - 64 8726 c.8312G>A c.(8311-8313)gGa>gAa p.G2771E FBN3_ENST00000270509.2_Missense_Mutation_p.G2771E|FBN3_ENST00000601739.1_Missense_Mutation_p.G2771E Q75N90 FBN3_HUMAN fibrillin 3 2771 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCGGTAGGTTCCAGGCCCCGG 0.677000 10 50 0 0 1 0 0 DHX32 55760 broad.mit.edu 37 10 127530490 127530490 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:127530490C>G ENST00000284690.3 - 7 1855 c.1365G>C c.(1363-1365)ttG>ttC p.L455F DHX32_ENST00000368721.1_Missense_Mutation_p.L79F|BCCIP_ENST00000299130.3_3'UTR|DHX32_ENST00000284688.6_Missense_Mutation_p.L374F|BCCIP_ENST00000429863.2_3'UTR|BCCIP_ENST00000368759.5_Intron NM_018180.2 NP_060650.2 Q7L7V1 DHX32_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 32 455 mitochondrion|nucleus ATP binding|helicase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1) 29 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) ATGCCTGCATCAAACTTTCTG 0.388000 4 20 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145039606 145039606 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:145039606C>A ENST00000313382.9 - 1 396 c.4G>T c.(4-6)Gag>Tag p.E2* PDE4DIP_ENST00000493130.2_Nonsense_Mutation_p.E2*|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000478649.2_Nonsense_Mutation_p.E2*|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron NM_001198832.1 NP_001185761 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CAGGTCTGCTCCATTTTCCAG 0.607000 T PDGFRB MPD 9 45 3.07112e-06 3.18031e-06 1 1 0 IMPA2 3613 broad.mit.edu 37 18 12009964 12009964 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr18:12009964G>A ENST00000269159.3 + 3 555 c.313G>A c.(313-315)Ggc>Agc p.G105S IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR NM_014214.2 NP_055029.1 O14732 IMPA2_HUMAN inositol(myo)-1(or 4)-monophosphatase 2 105 Substrate binding. inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1) 12 Lithium(DB01356) CCCCATCGACGGCACCTGCAA 0.557000 6 100 0 0 1 0 0 ZNF780B 163131 broad.mit.edu 37 19 40540641 40540641 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:40540641G>A ENST00000434248.1 - 5 2190 c.2125C>T c.(2125-2127)Cat>Tat p.H709Y ZNF780B_ENST00000221355.6_Missense_Mutation_p.H561Y NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 709 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AGCTGGTAATGATATCTAAAG 0.408000 6 69 0 0 1 0 0 ZNF263 10127 broad.mit.edu 37 16 3335110 3335110 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:3335110C>G ENST00000219069.5 + 2 1315 c.439C>G c.(439-441)Ctg>Gtg p.L147V ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Intron|ZNF263_ENST00000573578.1_Intron NM_005741.4 NP_005732.2 O14978 ZN263_HUMAN zinc finger protein 263 147 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 GCCTTTGCCTCTGGAAACAGC 0.592000 8 31 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). 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 p.E542K(545)|p.E542Q(10) 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) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 21 27 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71729987 71729987 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:71729987G>A ENST00000393695.3 - 10 955 c.624C>T c.(622-624)atC>atT p.I208I NUMA1_ENST00000351960.6_Silent_p.I208I|NUMA1_ENST00000358965.6_Silent_p.I208I|RP11-849H4.4_ENST00000502284.1_RNA NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 208 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 GGGTCTGCAGGATATCACCCA 0.522000 T RARA APL 54 39 0 0 1 0 0 FKBP1B 2281 broad.mit.edu 37 2 24285948 24285948 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:24285948G>A ENST00000452109.1 + 5 360 c.126G>A c.(124-126)caG>caA p.Q42Q FKBP1B_ENST00000380991.4_3'UTR|FKBP1B_ENST00000380986.4_Silent_p.Q71Q P68106 FKB1B_HUMAN FK506 binding protein 1B, 12.6 kDa 71 PPIase FKBP-type. 'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state calcium channel complex|sarcoplasmic reticulum membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding lung(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTTGGGGCAGAGGGCGAAGC 0.552000 7 19 0 0 1 0 0 GALNT15 117248 broad.mit.edu 37 3 16216729 16216729 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:16216729G>C ENST00000339732.5 + 1 574 c.71G>C c.(70-72)gGa>gCa p.G24A GALNT15_ENST00000437509.1_Missense_Mutation_p.G24A NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 CTGATGCTGGGATGCGTCCTG 0.572000 10 66 0 0 1 0 0 ATXN2 6311 broad.mit.edu 37 12 111956074 111956074 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:111956074C>G ENST00000377617.3 - 9 1785 c.1624G>C c.(1624-1626)Gac>Cac p.D542H ATXN2_ENST00000389153.4_Missense_Mutation_p.D277H|ATXN2_ENST00000535949.1_Missense_Mutation_p.D253H|ATXN2_ENST00000608853.1_Missense_Mutation_p.D382H|ATXN2_ENST00000542287.2_Missense_Mutation_p.D277H|ATXN2_ENST00000550104.1_Missense_Mutation_p.D542H NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 542 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 ACTCTTTGGTCTGAACCAGAA 0.393000 12 48 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 107937881 107937881 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:107937881G>A ENST00000370067.1 + 4 1620 c.993G>A c.(991-993)aaG>aaA p.K331K NTNG1_ENST00000542803.1_Silent_p.K331K|NTNG1_ENST00000370066.1_Silent_p.K331K|NTNG1_ENST00000370072.3_Silent_p.K331K|NTNG1_ENST00000370071.2_Silent_p.K331K|NTNG1_ENST00000370061.3_Silent_p.K331K|NTNG1_ENST00000370073.2_Silent_p.K331K|NTNG1_ENST00000370068.1_Silent_p.K331K|NTNG1_ENST00000370065.1_Silent_p.K331K|NTNG1_ENST00000370074.4_Silent_p.K331K|NTNG1_ENST00000370070.2_Silent_p.K331K Q9Y2I2 NTNG1_HUMAN netrin G1 331 Laminin EGF-like 1. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) AATGCAAGAAGAATTATCAGG 0.468000 29 71 0 0 1 0 0 RBM19 9904 broad.mit.edu 37 12 114374920 114374920 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:114374920G>C ENST00000545145.2 - 16 2038 c.1960C>G c.(1960-1962)Ctg>Gtg p.L654V RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000392561.3_Missense_Mutation_p.L654V|RBM19_ENST00000261741.5_Missense_Mutation_p.L654V NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 654 RRM 4. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) GCCCACTCCAGATAGAGGGGG 0.547000 13 48 0 0 1 0 0 PGM1 5236 broad.mit.edu 37 1 64125289 64125289 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:64125289G>A ENST00000371083.4 + 11 2054 c.1686G>A c.(1684-1686)ctG>ctA p.L562L PGM1_ENST00000540265.1_Silent_p.L347L|PGM1_ENST00000371084.3_Silent_p.L544L NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 544 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 CCATTGCTCTGAAAGTGTCCC 0.542000 17 53 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18513169 18513169 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:18513169C>G ENST00000440756.2 - 10 2307 c.2205G>C c.(2203-2205)gaG>gaC p.E735D PSD3_ENST00000286485.8_Missense_Mutation_p.E199D|PSD3_ENST00000428502.2_Missense_Mutation_p.E62D|PSD3_ENST00000523619.1_Missense_Mutation_p.E668D|PSD3_ENST00000327040.8_Missense_Mutation_p.E733D Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 734 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) ATTCAAGCTTCTCATTCTTGA 0.378000 9 52 0 0 1 0 0 FMO2 2327 broad.mit.edu 37 1 171178011 171178011 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:171178011G>A ENST00000441535.1 + 9 1452 c.1335G>A c.(1333-1335)gcG>gcA p.A445A RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000209929.7_Silent_p.A445A|RP1-127D3.4_ENST00000445909.1_RNA NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 445 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGATAGGTGCGAAGCCAGATT 0.473000 4 217 0 0 1 0 0 NCF1 653361 broad.mit.edu 37 7 74193748 74193748 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:74193748C>G ENST00000289473.4 + 4 445 c.375C>G c.(373-375)ctC>ctG p.L125L NCF1_ENST00000443956.3_3'UTR NM_000265.4 NP_000256.4 P14598 NCF1_HUMAN neutrophil cytosolic factor 1 125 PX. cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation cytosol|NADPH oxidase complex|soluble fraction electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 CTGATGACCTCAAGCTCCCCA 0.577000 18 35 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96282137 96282137 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:96282137G>A ENST00000225235.4 + 11 2037 c.1927G>A c.(1927-1929)Gaa>Aaa p.E643K TBC1D12_ENST00000485048.1_Intron NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 643 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) AGTATTCTTTGAAGAAAATCT 0.239000 5 12 0 0 1 0 0 ODF2 4957 broad.mit.edu 37 9 131222828 131222828 + Splice_Site SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:131222828G>C ENST00000393527.3 + 5 521 c.e5-1 ODF2_ENST00000604420.1_Intron|ODF2_ENST00000351030.3_Splice_Site|ODF2_ENST00000448249.3_5'UTR|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000434106.3_Intron|ODF2_ENST00000535026.1_5'UTR NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 CCACCTGCCAGAAGCCAACCA 0.507000 4 75 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98742371 98742371 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:98742371G>A ENST00000286067.2 + 1 1331 c.1224G>A c.(1222-1224)atG>atA p.M408I NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 408 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) AGCCCCCCATGAGTCTGGGAA 0.502000 33 85 0 0 1 0 0 LCMT2 9836 broad.mit.edu 37 15 43621748 43621748 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:43621748C>G ENST00000305641.5 - 1 1055 c.940G>C c.(940-942)Gga>Cga p.G314R LCMT2_ENST00000544735.1_5'UTR|LCMT2_ENST00000567039.1_3'UTR NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 314 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) AGGGTGTCTCCCCTAGAAGCT 0.532000 11 33 0 0 1 0 0 GSTA1 2938 broad.mit.edu 37 6 52658985 52658985 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:52658985C>G ENST00000334575.5 - 5 507 c.352G>C c.(352-354)Gat>Cat p.D118H GSTA1_ENST00000493331.1_5'UTR NM_145740.3 NP_665683.1 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 118 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 12 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) AGCTTGGCATCTTTTTCCTCA 0.398000 33 176 0 0 1 0 0 B3GALNT1 8706 broad.mit.edu 37 3 160804206 160804206 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:160804206G>C ENST00000392781.2 - 8 1084 c.337C>G c.(337-339)Ctt>Gtt p.L113V B3GALNT1_ENST00000473285.1_Missense_Mutation_p.L113V|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.L113V|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.L113V|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.L113V|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.L113V NM_001038628.1 NP_001033717.1 O75752 B3GL1_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) 113 protein glycosylation Golgi membrane|integral to membrane galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05) AAAAATGTAAGAACCTCATAT 0.438000 46 65 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74316446 74316446 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:74316446C>T ENST00000263665.6 - 20 2815 c.2788G>A c.(2788-2790)Gag>Aag p.E930K CNTN3_ENST00000477856.1_5'UTR NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 930 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GACTCATTCTCCATGGCTTTA 0.373000 10 80 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85531706 85531706 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:85531706G>C ENST00000393217.2 + 19 4349 c.4288G>C c.(4288-4290)Gaa>Caa p.E1430Q NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1430 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) ATCCGATGAAGAATACAGAGA 0.294000 18 38 0 0 1 0 0 SH3GL2 6456 broad.mit.edu 37 9 17786485 17786485 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:17786485C>G ENST00000380607.4 + 4 414 c.294C>G c.(292-294)ctC>ctG p.L98L SH3GL2_ENST00000537391.1_Silent_p.L51L NM_003026.2 NP_003017.1 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 98 BAR.|Binds and tubulates liposomes (By similarity). axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) AGGCCATGCTCAAATTTGGAA 0.488000 32 23 0 0 1 0 0 BTBD9 114781 broad.mit.edu 37 6 38561892 38561892 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:38561892G>A ENST00000481247.1 - 3 548 c.397C>T c.(397-399)Ctc>Ttc p.L133F BTBD9_ENST00000314100.6_Missense_Mutation_p.L65F|BTBD9_ENST00000403056.1_Missense_Mutation_p.L133F|BTBD9_ENST00000408958.1_Missense_Mutation_p.L65F|BTBD9_ENST00000419706.2_Missense_Mutation_p.L74F NM_001099272.1|NM_052893.1 NP_001092742.1|NP_443125.1 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 133 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 ATGGTGCAGAGATACTCAGAG 0.443000 5 242 0 0 1 0 0 CEP85 64793 broad.mit.edu 37 1 26570715 26570715 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:26570715C>G ENST00000252992.4 + 3 245 c.114C>G c.(112-114)atC>atG p.I38M CEP85_ENST00000451429.2_Intron NM_001281517.1|NM_022778.2 NP_001268446.1|NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 38 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 CCCCAGTTATCTCGGAGCCCT 0.537000 13 19 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171086525 171086525 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:171086525G>C ENST00000367755.4 + 9 1653 c.1542G>C c.(1540-1542)tgG>tgC p.W514C FMO3_ENST00000392085.2_Missense_Mutation_p.W514C|FMO3_ENST00000542847.1_Missense_Mutation_p.W494C|FMO3_ENST00000538429.1_Missense_Mutation_p.W451C NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 514 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTTTCCATTGGCTGAAGCTCT 0.453000 20 61 0 0 1 0 0 NCOA5 57727 broad.mit.edu 37 20 44693770 44693770 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:44693770C>G ENST00000290231.6 - 6 891 c.727G>C c.(727-729)Gag>Cag p.E243Q NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) CTAACATCCTCCAAGGCTTGT 0.522000 21 84 0 0 1 0 0 TSR1 55720 broad.mit.edu 37 17 2237954 2237954 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:2237954C>G ENST00000301364.5 - 5 1872 c.793G>C c.(793-795)Gag>Cag p.E265Q TSR1_ENST00000576112.2_Missense_Mutation_p.E249Q NM_018128.4 NP_060598.3 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 AAGTTATTCTCTTCACTAGGA 0.463000 26 106 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52705266 52705266 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:52705266G>C ENST00000322088.6 + 2 206 c.148G>C c.(148-150)Gag>Cag p.E50Q PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Silent_p.V28V|PPP2R1A_ENST00000462990.1_5'UTR NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 50 PP2A subunit B binding.|Polyoma small and medium T antigens Binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) GACCCGAAGTGAGCTTCTGCC 0.522000 Mis clear cell ovarian carcinoma 5 25 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47894681 47894681 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:47894681C>G ENST00000426837.2 - 20 6945 c.6858G>C c.(6856-6858)caG>caC p.Q2286H MAP4_ENST00000395734.3_Intron|MAP4_ENST00000441748.2_Intron|MAP4_ENST00000383737.4_Missense_Mutation_p.Q800H|MAP4_ENST00000420772.2_Intron|MAP4_ENST00000360240.6_Missense_Mutation_p.Q1141H|MAP4_ENST00000264724.11_Missense_Mutation_p.Q876H P27816 MAP4_HUMAN microtubule-associated protein 4 1141 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGTCCAAGGTCTGGGCCTCCC 0.632000 36 70 0 0 1 0 0 LRRN4CL 221091 broad.mit.edu 37 11 62455464 62455464 + Missense_Mutation SNP C C T rs151072274 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:62455464C>T ENST00000317449.4 - 2 994 c.517G>A c.(517-519)Gag>Aag p.E173K NM_203422.2 NP_981967.1 Q8ND94 LRN4L_HUMAN LRRN4 C-terminal like 173 integral to membrane cervix(1)|kidney(1) 2 TCGGCCCCCTCGAGGCCCTCT 0.711000 16 10 0 0 1 0 0 TSR1 55720 broad.mit.edu 37 17 2235635 2235635 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:2235635C>T ENST00000301364.5 - 8 2403 c.1324G>A c.(1324-1326)Gag>Aag p.E442K NM_018128.4 NP_060598.3 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) Glu-rich. ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 TATTCTTCCTCTTCTTCACTA 0.368000 25 79 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47320509 47320509 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr21:47320509G>A ENST00000400314.1 + 6 532 c.194G>A c.(193-195)gGa>gAa p.G65E PCBP3_ENST00000400308.1_Missense_Mutation_p.G65E|PCBP3_ENST00000400304.1_Missense_Mutation_p.G33E|PCBP3_ENST00000400310.1_Missense_Mutation_p.G65E|PCBP3_ENST00000400309.1_Missense_Mutation_p.G65E|PCBP3_ENST00000449640.1_Missense_Mutation_p.G65E P57721 PCBP3_HUMAN poly(rC) binding protein 3 65 KH 1. mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) TTCCAGAAAGGAGAAACTGTG 0.612000 4 25 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16265833 16265833 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:16265833G>A ENST00000375759.3 + 15 11110 c.10906G>A c.(10906-10908)Gag>Aag p.E3636K NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3636 SPOC. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGAGTTCTCTGAGAGTCACCT 0.582000 5 148 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144990767 144990767 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:144990767G>T ENST00000322810.4 - 32 13802 c.13633C>A c.(13633-13635)Ctg>Atg p.L4545M PLEC_ENST00000436759.2_Missense_Mutation_p.L4435M|PLEC_ENST00000357649.2_Missense_Mutation_p.L4412M|PLEC_ENST00000345136.3_Missense_Mutation_p.L4408M|PLEC_ENST00000527096.1_Missense_Mutation_p.L4431M|PLEC_ENST00000356346.3_Missense_Mutation_p.L4394M|PLEC_ENST00000354958.2_Missense_Mutation_p.L4386M|PLEC_ENST00000354589.3_Missense_Mutation_p.L4408M|PLEC_ENST00000398774.2_Missense_Mutation_p.L4376M NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4545 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCCTCGTCCAGGGGCACGCGG 0.687000 4 70 0.00909568 0.00918437 1 1 0 KIF14 9928 broad.mit.edu 37 1 200522875 200522875 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:200522875G>C ENST00000367350.4 - 30 5026 c.4588C>G c.(4588-4590)Ctt>Gtt p.L1530V NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1530 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 GTCTGGAGAAGATTTATATCA 0.378000 22 59 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25994351 25994351 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:25994351G>A ENST00000435504.4 - 6 755 c.462C>T c.(460-462)gtC>gtT p.V154V ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_Silent_p.V126V Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 154 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGGAGAAATGACTTTACCTG 0.423000 11 24 0 0 1 0 0 POLE2 5427 broad.mit.edu 37 14 50140893 50140893 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:50140893G>A ENST00000539565.2 - 4 505 c.287C>T c.(286-288)aCa>aTa p.T96I POLE2_ENST00000554396.1_Missense_Mutation_p.T122I|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000216367.5_Missense_Mutation_p.T122I NM_001197330.1 NP_001184259.1 P56282 DPOE2_HUMAN polymerase (DNA directed), epsilon 2, accessory subunit 122 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 10 all_epithelial(31;0.0021)|Breast(41;0.0124) ATCTCTTGGTGTTCCAAATAA 0.418000 8 199 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52849199 52849199 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:52849199G>C ENST00000371568.3 - 13 2124 c.1906C>G c.(1906-1908)Ctc>Gtc p.L636V ORC1_ENST00000371566.1_Missense_Mutation_p.L636V NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 636 Necessary and sufficient for ORC complex assembly. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CAGTCAAAGAGATTGTACATT 0.527000 20 47 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110588093 110588093 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:110588093C>G ENST00000399066.3 - 6 1752 c.1025G>C c.(1024-1026)cGg>cCg p.R342P SYBU_ENST00000528647.1_Missense_Mutation_p.R344P|SYBU_ENST00000408889.3_Missense_Mutation_p.R226P|SYBU_ENST00000446070.2_Missense_Mutation_p.R344P|SYBU_ENST00000419099.1_Missense_Mutation_p.R344P|SYBU_ENST00000440310.1_Missense_Mutation_p.R345P|SYBU_ENST00000276646.9_Missense_Mutation_p.R345P|SYBU_ENST00000532779.1_Missense_Mutation_p.R277P|SYBU_ENST00000422135.1_Missense_Mutation_p.R345P|SYBU_ENST00000533171.1_Missense_Mutation_p.R345P|SYBU_ENST00000533065.1_Missense_Mutation_p.R226P|SYBU_ENST00000529175.1_Missense_Mutation_p.R139P|SYBU_ENST00000528331.1_Missense_Mutation_p.R226P|SYBU_ENST00000529690.1_Missense_Mutation_p.R215P|SYBU_ENST00000433638.1_Missense_Mutation_p.R345P|SYBU_ENST00000408908.2_Missense_Mutation_p.R345P|SYBU_ENST00000424158.2_Missense_Mutation_p.R350P|SYBU_ENST00000533895.1_Missense_Mutation_p.R344P NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 345 Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 CAAGCTGCTCCGCATGGTTTC 0.463000 44 61 0 0 1 0 0 ZNF436 80818 broad.mit.edu 37 1 23688704 23688704 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:23688704C>T ENST00000314011.4 - 4 1307 c.1171G>A c.(1171-1173)Gag>Aag p.E391K ZNF436_ENST00000374608.3_Missense_Mutation_p.E391K NM_001077195.1 NP_001070663.1 Q9C0F3 ZN436_HUMAN zinc finger protein 436 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) TCATTACACTCATAAGGCTTC 0.473000 18 70 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122763373 122763373 + Silent SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:122763373G>C ENST00000358808.2 - 22 4003 c.3849C>G c.(3847-3849)ctC>ctG p.L1283L CLIP1_ENST00000361654.4_Silent_p.L1172L|CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000545889.1_Silent_p.L869L|CLIP1_ENST00000537178.1_Silent_p.L1248L|CLIP1_ENST00000540338.1_Silent_p.L1294L|CLIP1_ENST00000302528.7_Silent_p.L1283L NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1294 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TGTTTTCTTTGAGTTGAAGCT 0.522000 5 14 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31934858 31934858 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:31934858C>T ENST00000375394.2 + 20 2531 c.2418C>T c.(2416-2418)gtC>gtT p.V806V SKIV2L_ENST00000544581.1_Silent_p.V613V NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 806 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GCCAACTGGTCGACCTGCCTG 0.582000 22 36 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73449741 73449741 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:73449741C>T ENST00000252034.7 + 2 529 c.130C>T c.(130-132)Cca>Tca p.P44S ELN_ENST00000380575.4_Missense_Mutation_p.P44S|ELN_ENST00000458204.1_Missense_Mutation_p.P44S|ELN_ENST00000357036.5_Missense_Mutation_p.P44S|ELN_ENST00000380584.4_Missense_Mutation_p.P44S|ELN_ENST00000380562.4_Missense_Mutation_p.P44S|ELN_ENST00000380576.5_Missense_Mutation_p.P44S|ELN_ENST00000429192.1_Missense_Mutation_p.P44S|ELN_ENST00000414324.1_Missense_Mutation_p.P44S|ELN_ENST00000445912.1_Missense_Mutation_p.P44S|ELN_ENST00000320492.7_Missense_Mutation_p.P44S|ELN_ENST00000358929.4_Missense_Mutation_p.P44S|ELN_ENST00000380553.4_Missense_Mutation_p.P44S|ELN_ENST00000320399.6_Missense_Mutation_p.P44S NM_000501.2|NM_001278915.1 NP_000492.2|NP_001265844.1 P15502 ELN_HUMAN elastin 44 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) AGTCTTTTATCCAGGTAACGT 0.493000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 6 43 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 49713291 49713291 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:49713291C>T ENST00000451037.2 - 7 1654 c.714G>A c.(712-714)tcG>tcA p.S238S CA10_ENST00000571918.1_5'UTR|CA10_ENST00000570565.1_Silent_p.S163S|CA10_ENST00000285273.4_Silent_p.S238S|CA10_ENST00000340813.6_Silent_p.S244S|CA10_ENST00000442502.2_Silent_p.S238S NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 238 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GGATAGTCATCGACCCATCGT 0.413000 16 54 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32582457 32582457 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr21:32582457G>A ENST00000286827.3 - 12 2763 c.2292C>T c.(2290-2292)ttC>ttT p.F764F TIAM1_ENST00000541036.1_Silent_p.F739F NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 764 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 AGGATGGAGTGAAATACTCGT 0.517000 9 27 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96592237 96592237 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr13:96592237G>A ENST00000376747.3 - 16 1856 c.1786C>T c.(1786-1788)Cat>Tat p.H596Y NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 596 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TATTTAGAATGAATTCCCAAA 0.358000 50 109 0 0 1 0 0 CTNND1 1500 broad.mit.edu 37 11 57572242 57572242 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:57572242C>T ENST00000524630.1 + 9 2225 c.1712C>T c.(1711-1713)tCa>tTa p.S571L CTNND1_ENST00000426142.2_Missense_Mutation_p.S470L|CTNND1_ENST00000527467.1_Missense_Mutation_p.S248L|CTNND1_ENST00000528621.1_Missense_Mutation_p.S517L|CTNND1_ENST00000526938.1_Missense_Mutation_p.S571L|CTNND1_ENST00000532649.1_Missense_Mutation_p.S517L|CTNND1_ENST00000532245.1_Missense_Mutation_p.S470L|CTNND1_ENST00000526357.1_Missense_Mutation_p.S517L|CTNND1_ENST00000399050.4_Missense_Mutation_p.S571L|CTNND1_ENST00000428599.2_Missense_Mutation_p.S571L|CTNND1_ENST00000532844.1_Missense_Mutation_p.S517L|CTNND1_ENST00000358694.6_Missense_Mutation_p.S571L|CTNND1_ENST00000530748.1_Missense_Mutation_p.S517L|CTNND1_ENST00000361796.4_Missense_Mutation_p.S571L|CTNND1_ENST00000361332.4_Missense_Mutation_p.S571L|CTNND1_ENST00000534579.1_Missense_Mutation_p.S517L|CTNND1_ENST00000361391.6_Missense_Mutation_p.S571L|CTNND1_ENST00000360682.6_Missense_Mutation_p.S571L|CTNND1_ENST00000532787.1_Missense_Mutation_p.S470L|CTNND1_ENST00000529919.1_Missense_Mutation_p.S571L|CTNND1_ENST00000526772.1_Missense_Mutation_p.S248L|CTNND1_ENST00000529986.1_Missense_Mutation_p.S470L|CTNND1_ENST00000530094.1_Missense_Mutation_p.S470L|CTNND1_ENST00000525902.1_Missense_Mutation_p.S248L|CTNND1_ENST00000528232.1_Missense_Mutation_p.S470L|CTNND1_ENST00000533667.1_Missense_Mutation_p.S248L|CTNND1_ENST00000532463.1_Missense_Mutation_p.S470L|CTNND1_ENST00000531014.1_Missense_Mutation_p.S248L|CTNND1_ENST00000529873.1_Missense_Mutation_p.S517L|CTNND1_ENST00000529526.1_Missense_Mutation_p.S517L|CTNND1_ENST00000415361.2_Missense_Mutation_p.S470L|CTNND1_ENST00000399039.4_Missense_Mutation_p.S571L O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 571 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) CAGAAGGATTCAGACAGCAAG 0.453000 7 3 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16975234 16975234 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:16975234G>A ENST00000377833.4 - 40 6041 c.5976C>T c.(5974-5976)ttC>ttT p.F1992F NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1992 CUB 14. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGCCCGGGGAGAAGAGAAACA 0.522000 3 40 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48606084 48606084 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:48606084G>A ENST00000323776.5 + 17 2727 c.2565G>A c.(2563-2565)gtG>gtA p.V855V MYCBPAP_ENST00000436259.2_Silent_p.V818V NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 818 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) TCATGGAAGTGAAGGTACCTG 0.517000 14 17 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108155108 108155108 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:108155108G>A ENST00000278616.4 + 26 4286 c.3901G>A c.(3901-3903)Gag>Aag p.E1301K ATM_ENST00000452508.2_Missense_Mutation_p.E1301K NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1301 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.V1292_Q1331del(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TTTTGCCTATGAGGGTACCAG 0.403000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 15 38 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T rs112431538 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:7577085C>T ENST00000420246.2 - 8 985 c.853G>A c.(853-855)Gag>Aag p.E285K TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 285 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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) TTCTCTTCCTCTGTGCGCCGG 0.562000 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) 15 35 0 0 1 0 0 ATP6V1H 51606 broad.mit.edu 37 8 54727252 54727252 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:54727252G>A ENST00000355221.3 - 6 1054 c.495C>T c.(493-495)ttC>ttT p.F165F ATP6V1H_ENST00000520188.1_Silent_p.F125F|ATP6V1H_ENST00000396774.2_Silent_p.F165F|ATP6V1H_ENST00000359530.2_Silent_p.F165F NM_213619.2 NP_998784.1 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H 165 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 18 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) TTATCCAATTGAAATAGTAAT 0.318000 13 49 0 0 1 0 0 FBP2 8789 broad.mit.edu 37 9 97325731 97325731 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:97325731G>A ENST00000375337.3 - 6 784 c.718C>T c.(718-720)Ccc>Tcc p.P240S PCAT7_ENST00000452148.2_RNA NM_003837.2 NP_003828.2 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 240 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding endometrium(1)|large_intestine(3)|lung(5) 9 Acute lymphoblastic leukemia(62;0.136) GCCCCATAGGGAGCACTGCCA 0.557000 5 58 0 0 1 0 0 KLHL36 79786 broad.mit.edu 37 16 84695223 84695223 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:84695223C>T ENST00000564996.1 + 5 1476 c.1335C>T c.(1333-1335)ttC>ttT p.F445F KLHL36_ENST00000258157.5_Silent_p.F382F NM_024731.2 NP_079007.2 Q8N4N3 KLH36_HUMAN kelch-like family member 36 445 endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 ACAAAGACTTCGTGTACATCT 0.632000 16 53 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82789633 82789633 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:82789633C>T ENST00000265077.3 + 5 1196 c.631C>T c.(631-633)Cgg>Tgg p.R211W VCAN_ENST00000343200.5_Missense_Mutation_p.R211W|VCAN_ENST00000342785.4_Missense_Mutation_p.R211W|VCAN_ENST00000502527.2_Missense_Mutation_p.R211W|VCAN_ENST00000512590.2_Missense_Mutation_p.R163W|VCAN_ENST00000513984.1_Missense_Mutation_p.R211W NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 211 Link 1. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ATATCCCATCCGGGCTCCCAG 0.473000 6 65 0 0 1 0 0 CCNE2 9134 broad.mit.edu 37 8 95897786 95897786 + Splice_Site SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:95897786C>A ENST00000520509.1 - 8 853 c.601G>T c.(601-603)Gaa>Taa p.E201* CCNE2_ENST00000308108.4_Splice_Site_p.E201*|CCNE2_ENST00000396133.3_Splice_Site_p.E201*|CCNE2_ENST00000523476.1_5'UTR O96020 CCNE2_HUMAN cyclin E2 201 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) GCATAGATTTCCTTTAAATTG 0.318000 46 61 2.56175e-15 2.74116e-15 1 1 0 OR1D2 4991 broad.mit.edu 37 17 2996178 2996178 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:2996178G>A ENST00000331459.1 - 1 112 c.113C>T c.(112-114)aCg>aTg p.T38M NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 38 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 TCCCACCACCGTGACCAGGTA 0.552000 4 158 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158923290 158923290 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:158923290G>C ENST00000367097.3 + 13 3952 c.2595G>C c.(2593-2595)ttG>ttC p.L865F TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 865 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) ATGTGTGCTTGAAGAAGGGCG 0.662000 8 30 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21422578 21422578 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr18:21422578C>T ENST00000313654.9 + 29 3708 c.3467C>T c.(3466-3468)tCc>tTc p.S1156F LAMA3_ENST00000399516.3_Missense_Mutation_p.S1156F NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1156 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGCCAGGCTCCTTCCATGCC 0.577000 18 84 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7070905 7070905 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:7070905G>T ENST00000299481.4 + 6 2473 c.2127G>T c.(2125-2127)ttG>ttT p.L709F NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 709 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TCTGAAGGTTGAAATTTATCA 0.358000 15 65 3.27435e-08 3.4366e-08 1 1 0 BMP2 650 broad.mit.edu 37 20 6759460 6759460 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:6759460C>T ENST00000378827.4 + 3 2134 c.915C>T c.(913-915)ttC>ttT p.F305F NM_001200.2 NP_001191.1 P12643 BMP2_HUMAN bone morphogenetic protein 2 305 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) ACGTGGACTTCAGTGACGTGG 0.512000 9 27 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90261235 90261235 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:90261235C>T ENST00000405460.2 + 84 17956 c.17860C>T c.(17860-17862)Ctg>Ttg p.L5954L GPR98_ENST00000425867.2_Silent_p.L1615L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5954 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTTACAGATTCTGTTTCTGGC 0.383000 9 40 0 0 1 0 0 USP37 57695 broad.mit.edu 37 2 219341649 219341649 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:219341649C>T ENST00000258399.3 - 19 2369 c.1957G>A c.(1957-1959)Gag>Aag p.E653K USP37_ENST00000454775.1_Missense_Mutation_p.E653K|USP37_ENST00000418019.1_Missense_Mutation_p.E653K|USP37_ENST00000415516.1_Missense_Mutation_p.E559K NM_020935.2 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 653 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) AGCTCATCCTCACTGTCTGAA 0.388000 19 27 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404541 20404541 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:20404541C>T ENST00000285600.4 + 1 775 c.716C>T c.(715-717)aCa>aTa p.T239I NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GCTCTTTCTACATTAACTGCC 0.413000 15 75 0 0 1 0 0 ZNF23 7571 broad.mit.edu 37 16 71482604 71482604 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:71482604G>A ENST00000393539.2 - 6 2137 c.1324C>T c.(1324-1326)Cac>Tac p.H442Y ZNF23_ENST00000357254.4_Missense_Mutation_p.H442Y|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.H442Y|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.H384Y|ZNF23_ENST00000428724.2_Missense_Mutation_p.H384Y NM_145911.1 NP_666016.1 P17027 ZNF23_HUMAN zinc finger protein 23 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1) 29 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) TCCCCAGTGTGAATTCTCAGA 0.478000 9 29 0 0 1 0 0 NCKAP1 10787 broad.mit.edu 37 2 183806840 183806840 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:183806840C>G ENST00000361354.4 - 24 3025 c.2653G>C c.(2653-2655)Gac>Cac p.D885H NCKAP1_ENST00000360982.2_Missense_Mutation_p.D891H|NCKAP1_ENST00000478449.1_5'UTR NM_013436.3 NP_038464.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TCTGGTTTGTCAAAGCTGGTC 0.358000 20 38 0 0 1 0 0 ECH1 1891 broad.mit.edu 37 19 39321769 39321769 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:39321769C>T ENST00000221418.4 - 3 530 c.298G>A c.(298-300)Gct>Act p.A100T ECH1_ENST00000597805.1_5'UTR|AC104534.3_ENST00000594769.1_Silent_p.T269T NM_001398.2 NP_001389.2 enoyl CoA hydratase 1, peroxisomal cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 6 all_cancers(60;9.36e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) CGACAGTCAGCGTCTCTCGAA 0.532000 18 47 0 0 1 0 0 DAB2IP 153090 broad.mit.edu 37 9 124521256 124521256 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:124521256G>A ENST00000408936.3 + 5 778 c.596G>A c.(595-597)cGa>cAa p.R199Q DAB2IP_ENST00000309989.1_Missense_Mutation_p.R75Q|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R171Q Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 199 PH. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 AACCTCCGGCGAGCGGTGCAT 0.562000 8 8 0 0 1 0 0 HIST1H2BH 8345 broad.mit.edu 37 6 26252083 26252083 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:26252083G>A ENST00000356350.2 + 1 205 c.205G>A c.(205-207)Gat>Aat p.D69N NM_003524.2 NP_003515.1 Q93079 H2B1H_HUMAN histone cluster 1, H2bh 69 nucleosome assembly nucleosome|nucleus DNA binding p.D69H(1) NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 17 CTTTGTCAACGATATCTTCGA 0.567000 18 160 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99133438 99133438 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:99133438G>A ENST00000370992.4 - 17 2031 c.1920C>T c.(1918-1920)ttC>ttT p.F640F RRP12_ENST00000536831.1_Silent_p.F358F|RRP12_ENST00000414986.1_Silent_p.F579F|RRP12_ENST00000315563.6_Silent_p.F540F NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 640 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) CCAGCCCTTTGAAGGAGATGG 0.622000 6 33 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27087570 27087570 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:27087570C>T ENST00000324856.7 + 5 2515 c.2144C>T c.(2143-2145)tCg>tTg p.S715L ARID1A_ENST00000374152.2_Missense_Mutation_p.S332L|ARID1A_ENST00000457599.2_Missense_Mutation_p.S715L NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 715 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGACCACTCTCGCCTGCTGCA 0.607000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 13 27 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:37868208C>T ENST00000406381.2 + 10 1349 c.839C>T c.(838-840)tCc>tTc p.S280F ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 310 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(6)|p.S310Y(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 6 218 0 0 1 0 0 CEP78 84131 broad.mit.edu 37 9 80881599 80881599 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:80881599C>T ENST00000424347.2 + 15 2328 c.2039C>T c.(2038-2040)tCa>tTa p.S680L CEP78_ENST00000277082.5_Missense_Mutation_p.S680L|CEP78_ENST00000376598.2_Missense_Mutation_p.S696L|CEP78_ENST00000376597.4_Missense_Mutation_p.S697L|CEP78_ENST00000415759.2_Missense_Mutation_p.S681L Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa 680 G2/M transition of mitotic cell cycle centrosome|cytosol breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 21 AGATCTTCTTCAGAGAAAAAG 0.423000 4 16 0 0 1 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23003197 23003197 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:23003197G>A ENST00000312584.3 - 5 814 c.720C>T c.(718-720)ctC>ctT p.L240L NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 240 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) AGATGCCTTTGAGGTAAGAAA 0.507000 7 20 0 0 1 0 0 CASQ1 844 broad.mit.edu 37 1 160165315 160165315 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:160165315C>T ENST00000368079.3 + 5 899 c.624C>T c.(622-624)ttC>ttT p.F208F CASQ1_ENST00000368078.3_Silent_p.F214F NM_001231.4 NP_001222.3 P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 214 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCGCCACCTTCGACAGCAAGG 0.552000 19 41 0 0 1 0 0 OR11A1 26531 broad.mit.edu 37 6 29394816 29394816 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:29394816G>A ENST00000377149.1 - 5 1075 c.603C>T c.(601-603)ctC>ctT p.L201L OR11A1_ENST00000377148.1_Silent_p.L201L|OR11A1_ENST00000377147.2_Silent_p.L201L|OR5V1_ENST00000377154.1_Intron Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, member 1 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 CAGACAGAATGAGAGTTGTCA 0.507000 3 25 0 0 1 0 0 CAPN15 6650 broad.mit.edu 37 16 597706 597706 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:597706C>T ENST00000219611.2 + 4 1231 c.868C>T c.(868-870)Ctg>Ttg p.L290L LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 AGCAGAGTTGCTGTCTGGCAA 0.706000 3 4 0 0 1 0 0 RABGEF1 27342 broad.mit.edu 37 7 66236889 66236889 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:66236889G>A ENST00000439720.2 + 2 209 c.42G>A c.(40-42)atG>atA p.M14I RABGEF1_ENST00000450873.2_Start_Codon_SNP_p.M1I|KCTD7_ENST00000380828.2_Start_Codon_SNP_p.M1I|RABGEF1_ENST00000284957.5_Start_Codon_SNP_p.M1I|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000451741.2_Start_Codon_SNP_p.M1I|KCTD7_ENST00000510829.2_Start_Codon_SNP_p.M1I|RABGEF1_ENST00000437078.2_Missense_Mutation_p.M15I Q9UJ41 RABX5_HUMAN RAB guanine nucleotide exchange factor (GEF) 1 139 endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1) 27 GGAAGAAGATGAGCCTTAAGT 0.408000 6 32 0 0 1 0 0 SLC37A1 54020 broad.mit.edu 37 21 43982268 43982268 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr21:43982268C>T ENST00000352133.2 + 12 2044 c.1062C>T c.(1060-1062)atC>atT p.I354I SLC37A1_ENST00000398341.3_Silent_p.I354I P57057 GLPT_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 1 354 carbohydrate transport|transmembrane transport integral to membrane breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3) 15 CCCTGTACATCACGAATGTGG 0.488000 31 45 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47311756 47311756 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:47311756C>T ENST00000342922.4 + 18 3357 c.3000C>T c.(2998-3000)ctC>ctT p.L1000L MADD_ENST00000349238.3_Silent_p.L1020L|MADD_ENST00000402799.1_Silent_p.L957L|MADD_ENST00000395344.3_Silent_p.L957L|MADD_ENST00000402192.2_Silent_p.L1000L|MADD_ENST00000311027.5_Silent_p.L1020L|MADD_ENST00000406482.1_Silent_p.L957L|MADD_ENST00000407859.3_Silent_p.L977L|MADD_ENST00000395336.3_Silent_p.L1020L NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 1020 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) GTACAGTCCTCAGCTTGGAGC 0.537000 10 53 0 0 1 0 0 TAPBPL 55080 broad.mit.edu 37 12 6571238 6571238 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:6571238G>A ENST00000266556.7 + 7 1495 c.1330G>A c.(1330-1332)Gag>Aag p.E444K TAPBPL_ENST00000545700.1_3'UTR NM_018009.4 NP_060479.3 Q9BX59 TPSNR_HUMAN TAP binding protein-like 444 antigen processing and presentation of endogenous peptide antigen via MHC class I endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 6 TGAACGCTGGGAGACCACTTC 0.552000 8 23 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41018816 41018816 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:41018816C>G ENST00000399564.4 - 26 3100 c.2650G>C c.(2650-2652)Gag>Cag p.E884Q MROH2B_ENST00000506092.2_Missense_Mutation_p.E439Q NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TGACAGTCCTCTGCATTCACA 0.413000 9 52 0 0 1 0 0 RUFY2 55680 broad.mit.edu 37 10 70123375 70123375 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:70123375G>C ENST00000388768.2 - 15 1953 c.1627C>G c.(1627-1629)Ctt>Gtt p.L543V RUFY2_ENST00000265865.3_Missense_Mutation_p.L98V|RUFY2_ENST00000602465.1_Missense_Mutation_p.L508V NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 557 nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 AGTTCTTGAAGAGCTTGCTCT 0.323000 8 21 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48734253 48734253 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:48734253C>T ENST00000314191.2 - 66 9076 c.9020G>A c.(9019-9021)tGg>tAg p.W3007* PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.W3007* NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3008 FAT.|KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AAGTGATTTCCACTCAGCAAG 0.438000 Non-homologous end-joining 8 6 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70744092 70744092 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:70744092G>C ENST00000260126.4 - 2 1523 c.817C>G c.(817-819)Ctc>Gtc p.L273V SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L273V|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.L273V NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) ATTCCAATGAGAATCTGCGCG 0.488000 24 67 0 0 1 0 0 SMO 6608 broad.mit.edu 37 7 128845101 128845101 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:128845101C>T ENST00000249373.3 + 3 875 c.595C>T c.(595-597)Cgg>Tgg p.R199W NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 199 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.R199W(2) biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GCCCTTGGTTCGGACAGACAA 0.582000 Mis skin basal cell 5 43 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 96171543 96171543 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:96171543C>T ENST00000324765.8 + 8 1186 c.839C>T c.(838-840)tCt>tTt p.S280F DIAPH2_ENST00000355827.4_Missense_Mutation_p.S280F|DIAPH2_ENST00000373061.3_Missense_Mutation_p.S280F|DIAPH2_ENST00000373049.4_Missense_Mutation_p.S280F|DIAPH2_ENST00000373054.4_Missense_Mutation_p.S276F O60879 DIAP2_HUMAN diaphanous-related formin 2 280 GBD/FH3. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 AAAATACTTTCTGCTATTTGC 0.318000 5 17 0 0 1 0 0 ZNF133 7692 broad.mit.edu 37 20 18297015 18297015 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:18297015C>G ENST00000377671.3 + 7 2076 c.1517C>G c.(1516-1518)tCa>tGa p.S506* ZNF133_ENST00000316358.4_Nonsense_Mutation_p.S507*|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Nonsense_Mutation_p.S510*|ZNF133_ENST00000402618.2_Nonsense_Mutation_p.S444*|ZNF133_ENST00000535822.1_Nonsense_Mutation_p.S412*|ZNF133_ENST00000538547.1_Nonsense_Mutation_p.S412*|ZNF133_ENST00000401790.1_Nonsense_Mutation_p.S507* NM_001083330.2|NM_003434.4 NP_001076799.1|NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 507 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 AGCCAGAAGTCAAACCTTGTT 0.617000 22 29 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108153482 108153482 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:108153482G>A ENST00000278616.4 + 25 4007 c.3622G>A c.(3622-3624)Gac>Aac p.D1208N ATM_ENST00000452508.2_Missense_Mutation_p.D1208N NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1208 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.D1208H(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ACGTTTAGAAGACTTTATGGC 0.274000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 15 45 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81664943 81664943 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:81664943C>T ENST00000558726.1 - 2 360 c.225G>A c.(223-225)ctG>ctA p.L75L TMC3_ENST00000359440.5_Silent_p.L75L Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 75 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 TCAATGCCCTCAGCTTCTGTC 0.473000 25 121 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3297090 3297090 + Missense_Mutation SNP C C A rs150730718 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:3297090C>A ENST00000219596.1 - 5 1552 c.1513G>T c.(1513-1515)Gac>Tac p.D505Y MEFV_ENST00000536379.1_Missense_Mutation_p.D294Y|MEFV_ENST00000339854.4_Missense_Mutation_p.D325Y|MEFV_ENST00000541159.1_Missense_Mutation_p.D294Y NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 505 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding p.D505N(1) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) AGGGCGATGTCCTGGGATACG 0.592000 8 90 3.86212e-05 3.95549e-05 1 1 0 SMYD4 114826 broad.mit.edu 37 17 1704169 1704169 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:1704169G>A ENST00000305513.7 - 5 686 c.519C>T c.(517-519)ttC>ttT p.F173F NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 173 zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 GTGTGGCTGTGAAGTTCCTTT 0.498000 14 163 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33287334 33287334 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:33287334G>A ENST00000374542.5 - 6 1967 c.1763C>T c.(1762-1764)tCt>tTt p.S588F DAXX_ENST00000414083.2_Missense_Mutation_p.S513F|DAXX_ENST00000266000.6_Missense_Mutation_p.S588F NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 588 Interaction with MAP3K5. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding p.S588F(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 CTTCCTGGAAGAGGAAATGTC 0.522000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 6 67 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136888983 136888983 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:136888983C>T ENST00000359015.4 - 26 3907 c.3547G>A c.(3547-3549)Gag>Aag p.E1183K MAP3K5_ENST00000355845.4_Missense_Mutation_p.E430K NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 1183 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) GTATCACTCTCAGATGCAAGG 0.388000 16 24 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100552605 100552605 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:100552605C>G ENST00000319509.7 + 1 1356 c.1356C>G c.(1354-1356)ctC>ctG p.L452L mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GCAGTAGCCTCCCGACCATCC 0.582000 19 203 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64383738 64383738 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:64383738G>A ENST00000355086.3 + 3 836 c.312G>A c.(310-312)ctG>ctA p.L104L SRGAP1_ENST00000543397.1_Silent_p.L64L|SRGAP1_ENST00000357825.3_Silent_p.L104L NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 104 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) ATTTGCTCCTGAACCAAGTAA 0.428000 6 59 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201982413 201982413 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:201982413G>C ENST00000359651.3 + 6 3984 c.792G>C c.(790-792)aaG>aaC p.K264N RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.K264N|ELF3_ENST00000367284.5_Missense_Mutation_p.K264N P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 264 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 TCGAGGGCAAGAAGAGCAAGC 0.637000 3 53 0 0 1 0 0 CBFB 865 broad.mit.edu 37 16 67100616 67100616 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:67100616G>A ENST00000290858.6 + 4 575 c.314G>A c.(313-315)gGa>gAa p.G105E CBFB_ENST00000561924.2_Missense_Mutation_p.G5E|CBFB_ENST00000412916.2_Missense_Mutation_p.G105E NM_001755.2|NM_022845.2 NP_001746.1|NP_074036.1 Q13951 PEBB_HUMAN core-binding factor, beta subunit 105 transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(3)|large_intestine(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066) ATTCTGAATGGAGTCTGTGTT 0.403000 T MYH11 AML 6 36 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166384 19166384 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:19166384G>A ENST00000375371.3 - 6 2250 c.2229C>T c.(2227-2229)ttC>ttT p.F743F NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 743 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) AGGCGAAGCTGAAACCCACCA 0.542000 29 11 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801421 185801421 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:185801421G>C ENST00000302277.6 + 4 1892 c.1298G>C c.(1297-1299)aGa>aCa p.R433T NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 433 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AACAAACACAGATCTACAGTT 0.363000 12 77 0 0 1 0 0 CD3EAP 10849 broad.mit.edu 37 19 45912501 45912501 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:45912501G>A ENST00000309424.3 + 3 1763 c.1275G>A c.(1273-1275)aaG>aaA p.K425K ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Silent_p.K427K|ERCC1_ENST00000300853.3_3'UTR NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 425 Poly-Lys. rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) agaagaagaagaagaagaaag 0.577000 3 30 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5071275 5071275 + Missense_Mutation SNP G G A rs149187210 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:5071275G>A ENST00000574788.1 + 34 5315 c.3085G>A c.(3085-3087)Gag>Aag p.E1029K USP6_ENST00000304328.5_Missense_Mutation_p.E712K|USP6_ENST00000250066.6_Missense_Mutation_p.E1029K|USP6_ENST00000332776.4_3'UTR P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 1029 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AGCGCAAGCCGAGCCCATCAA 0.522000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 10 63 0 0 1 0 0 DARC 2532 broad.mit.edu 37 1 159176166 159176166 + Missense_Mutation SNP C C T rs150917132 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:159176166C>T ENST00000537147.1 + 3 1780 c.937C>T c.(937-939)Cgc>Tgc p.R313C CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368122.2_Missense_Mutation_p.R313C|DARC_ENST00000368121.2_Missense_Mutation_p.R315C Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 313 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity p.R315C(1)|p.R315S(1) large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) CCAGGCCACCCGCACCCTCTT 0.587000 15 246 0 0 1 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112998804 112998804 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:112998804G>A ENST00000271277.6 + 6 915 c.690G>A c.(688-690)caG>caA p.Q230Q NM_018704.2 NP_061174.1 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 230 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGGCTTGCAGACTGAGGCCC 0.502000 8 36 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48699981 48699981 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:48699981G>A ENST00000544264.1 - 1 367 c.87C>T c.(85-87)ctC>ctT p.L29L CELSR3_ENST00000164024.4_Silent_p.L29L Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 29 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCTCCTGGCTGAGGGGGAACA 0.706000 3 28 0 0 1 0 0 SYCP3 50511 broad.mit.edu 37 12 102122971 102122971 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:102122971C>G ENST00000392927.3 - 8 704 c.573G>C c.(571-573)aaG>aaC p.K191N SYCP3_ENST00000392924.1_Missense_Mutation_p.K191N|SYCP3_ENST00000266743.2_Missense_Mutation_p.K191N NM_001177948.1|NM_001177949.1|NM_153694.4 NP_001171419.1|NP_001171420.1|NP_710161.1 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 191 Gln-rich. cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TATCATGATTCTTCTCCAACT 0.294000 4 39 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50459497 50459497 + Missense_Mutation SNP C C T rs150385329 by1000genomes TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:50459497C>T ENST00000440768.2 + 7 813 c.658C>T c.(658-660)Cgt>Tgt p.R220C IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000331340.3_Silent_p.L262L|IKZF1_ENST00000438033.1_Silent_p.L175L|IKZF1_ENST00000439701.1_Silent_p.L220L|IKZF1_ENST00000359197.5_Silent_p.L220L|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Silent_p.L175L|IKZF1_ENST00000349824.4_Intron Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 446 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) AGAGATCTCTCGTGCTGGACA 0.398000 """D,T""" BCL6 """ALL, DLBCL""" 5 41 0 0 1 0 0 SCNN1G 6340 broad.mit.edu 37 16 23224213 23224213 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:23224213G>A ENST00000300061.2 + 10 1572 c.1429G>A c.(1429-1431)Gag>Aag p.E477K CTC-391G2.1_ENST00000563471.1_RNA NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 477 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding p.E477Q(1) NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TGTGGTTTCGGAGGTAAGTTC 0.577000 6 32 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134034785 134034785 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:134034785C>T ENST00000359428.5 + 18 2596 c.2452C>T c.(2452-2454)Cat>Tat p.H818Y NUP214_ENST00000411637.2_Missense_Mutation_p.H808Y|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.H819Y|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 818 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TCGGCGCCTTCATCAGTATGT 0.348000 T """DEK, SET, ABL1""" """AML, T-ALL""" 5 30 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 8 10 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113860227 113860227 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:113860227C>G ENST00000504030.2 + 9 1624 c.1179C>G c.(1177-1179)gaC>gaG p.D393E HTR3A_ENST00000535865.1_Missense_Mutation_p.D137E|HTR3A_ENST00000375498.2_Missense_Mutation_p.D399E|HTR3A_ENST00000299961.5_Missense_Mutation_p.D378E|HTR3A_ENST00000355556.2_Missense_Mutation_p.D431E|HTR3A_ENST00000506841.2_Missense_Mutation_p.D425E P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 393 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) GACCCCAGGACTTCGAGAAGA 0.652000 33 38 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087215 47087215 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:47087215C>G ENST00000374312.1 + 3 851 c.432C>G c.(430-432)atC>atG p.I144M NPY4R_ENST00000395716.1_Missense_Mutation_p.I144M NM_005972.4 NP_005963.4 neuropeptide Y receptor Y4 AGCTCATCATCAACCCAACAG 0.592000 9 135 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43820186 43820186 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:43820186C>T ENST00000382031.1 + 5 7260 c.7229C>T c.(7228-7230)tCa>tTa p.S2410L MAP1A_ENST00000399453.1_Missense_Mutation_p.S2172L|MAP1A_ENST00000300231.5_Missense_Mutation_p.S2172L P78559 MAP1A_HUMAN microtubule-associated protein 1A 2172 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.S2172L(1) 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) GGCTTCTCCTCATTGCAGCCA 0.632000 10 92 0 0 1 0 0 C5orf28 64417 broad.mit.edu 37 5 43446412 43446412 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:43446412G>C ENST00000500337.2 - 5 891 c.560C>G c.(559-561)tCt>tGt p.S187C C5orf28_ENST00000397080.3_Missense_Mutation_p.S187C|C5orf28_ENST00000512085.1_Missense_Mutation_p.S187C|C5orf28_ENST00000537319.1_Missense_Mutation_p.S56C|C5orf28_ENST00000510130.1_Missense_Mutation_p.S85C|C5orf28_ENST00000511525.1_Intron Q0VDI3 CE028_HUMAN chromosome 5 open reading frame 28 187 integral to membrane breast(1)|kidney(1)|large_intestine(2)|lung(5) 9 Lung NSC(6;2.07e-05) GTGAGGTAAAGATGATGTGAT 0.393000 5 94 0 0 1 0 0 MLH1 4292 broad.mit.edu 37 3 37090079 37090079 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:37090079C>T ENST00000231790.2 + 17 2184 c.1968C>T c.(1966-1968)ttC>ttT p.F656F MLH1_ENST00000539477.1_Silent_p.F415F|MLH1_ENST00000458205.2_Silent_p.F415F|MLH1_ENST00000536378.1_Silent_p.F415F|MLH1_ENST00000455445.2_Silent_p.F415F|MLH1_ENST00000435176.1_Silent_p.F558F NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 656 F -> S (associated with HNPCC2; has no effect on ex vivo splicing assay). mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 TGCCTATCTTCATTCTTCGAC 0.483000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 30 130 0 0 1 0 0 FERMT2 10979 broad.mit.edu 37 14 53348071 53348071 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:53348071C>T ENST00000395631.2 - 5 859 c.643G>A c.(643-645)Gaa>Aaa p.E215K FERMT2_ENST00000343279.4_Missense_Mutation_p.E215K|FERMT2_ENST00000399304.3_Missense_Mutation_p.E215K|FERMT2_ENST00000341590.3_Missense_Mutation_p.E215K|FERMT2_ENST00000553373.1_Missense_Mutation_p.E215K Q96AC1 FERM2_HUMAN fermitin family member 2 215 FERM. actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) GGATTGCCTTCTGACAAAGCA 0.438000 41 76 0 0 1 0 0 ZNF573 126231 broad.mit.edu 37 19 38229486 38229486 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:38229486C>T ENST00000339503.4 - 8 2232 c.1731G>A c.(1729-1731)gaG>gaA p.E577E ZNF573_ENST00000536220.1_Silent_p.E547E|ZNF573_ENST00000392138.1_Silent_p.E548E|ZNF573_ENST00000357309.3_Silent_p.E547E|ZNF573_ENST00000590414.2_Silent_p.E635E NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 615 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) CATAGGGTTTCTCACCAGTAT 0.408000 5 153 0 0 1 0 0 PPAP2B 8613 broad.mit.edu 37 1 57002784 57002784 + Splice_Site SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:57002784G>A ENST00000371250.3 - 2 691 c.140C>T c.(139-141)gCg>gTg p.A47V NM_003713.4 NP_003704.3 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 47 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 GGGGAGGCCCGCTGGTCCAGG 0.468000 12 45 0 0 1 0 0 ZNF436 80818 broad.mit.edu 37 1 23689568 23689568 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:23689568C>T ENST00000314011.4 - 4 443 c.307G>A c.(307-309)Gaa>Aaa p.E103K ZNF436_ENST00000374608.3_Missense_Mutation_p.E103K NM_001077195.1 NP_001070663.1 Q9C0F3 ZN436_HUMAN zinc finger protein 436 103 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) CATTGTCTTTCTGACCTATCT 0.453000 27 105 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62464012 62464012 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:62464012C>T ENST00000383710.4 - 23 3602 c.3253G>A c.(3253-3255)Gaa>Aaa p.E1085K CADPS_ENST00000283269.9_Missense_Mutation_p.E1046K|CADPS_ENST00000357948.3_Missense_Mutation_p.E1006K NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1085 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) AACTCTTCTTCAGGCCAGTGC 0.473000 6 45 0 0 1 0 0 FGL1 2267 broad.mit.edu 37 8 17731905 17731905 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:17731905G>A ENST00000398056.2 - 6 1185 c.370C>T c.(370-372)Cag>Tag p.Q124* FGL1_ENST00000518650.1_Nonsense_Mutation_p.Q124*|FGL1_ENST00000522444.1_Nonsense_Mutation_p.Q124*|FGL1_ENST00000381841.2_Nonsense_Mutation_p.Q124*|FGL1_ENST00000427924.1_Nonsense_Mutation_p.Q124*|FGL1_ENST00000398054.1_Nonsense_Mutation_p.Q124*|FGL1_ENST00000381840.2_Nonsense_Mutation_p.Q124* Q08830 FGL1_HUMAN fibrinogen-like 1 124 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4) 13 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) GATCGTCTCTGAATTACAGTC 0.368000 62 44 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1269899 1269899 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:1269899C>T ENST00000447027.1 + 31 11856 c.11798C>T c.(11797-11799)tCt>tTt p.S3933F RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.S3930F Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3930 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. 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) GCCACTGGTTCTATGGCAACA 0.642000 3 16 0 0 1 0 0 IL17C 27189 broad.mit.edu 37 16 88706268 88706268 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:88706268G>A ENST00000244241.4 + 3 431 c.382G>A c.(382-384)Gag>Aag p.E128K NM_013278.3 NP_037410.1 Q9P0M4 IL17C_HUMAN interleukin 17C 128 cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response extracellular space|soluble fraction cytokine activity large_intestine(1)|lung(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0477) GGCCTTCGCCGAGTGCCTGTG 0.672000 3 6 0 0 1 0 0 CASQ1 844 broad.mit.edu 37 1 160167377 160167377 + Silent SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:160167377G>T ENST00000368079.3 + 7 1058 c.783G>T c.(781-783)ctG>ctT p.L261L CASQ1_ENST00000368078.3_Silent_p.L267L NM_001231.4 NP_001222.3 P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 267 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGAGGAAACTGAAGCCGGAGA 0.547000 5 60 1.23904e-05 1.27601e-05 1 1 0 CEP70 80321 broad.mit.edu 37 3 138289202 138289202 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:138289202C>T ENST00000264982.3 - 6 689 c.423G>A c.(421-423)caG>caA p.Q141Q CEP70_ENST00000481834.1_Silent_p.Q141Q|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000464035.1_Silent_p.Q141Q|CEP70_ENST00000484888.1_Silent_p.Q141Q|CEP70_ENST00000542237.1_Silent_p.Q121Q NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa 141 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 TTATTTTATTCTGTTGGTGGC 0.348000 9 59 0 0 1 0 0 GOLGA1 2800 broad.mit.edu 37 9 127644138 127644138 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:127644138C>T ENST00000373555.4 - 21 2394 c.2061G>A c.(2059-2061)ctG>ctA p.L687L NM_002077.3 NP_002068 Q92805 GOGA1_HUMAN golgin A1 687 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 GGGCATCTGTCAGGTCAGTGT 0.463000 20 50 0 0 1 0 0 SP110 3431 broad.mit.edu 37 2 231081540 231081540 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:231081540C>T ENST00000258381.6 - 2 180 c.103G>A c.(103-105)Gaa>Aaa p.E35K SP110_ENST00000540870.1_Missense_Mutation_p.E41K|SP110_ENST00000258382.5_Missense_Mutation_p.E35K|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000392048.3_Missense_Mutation_p.E35K|SP110_ENST00000358662.4_Missense_Mutation_p.E35K NM_080424.2 NP_536349 Q9HB58 SP110_HUMAN SP110 nuclear body protein 35 HSR. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) AGGAGGCCTTCAAAGAAGGGA 0.493000 22 20 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856347 53856347 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:53856347G>A ENST00000458035.1 + 4 2536 c.2419G>A c.(2419-2421)Gaa>Aaa p.E807K ZNF845_ENST00000595091.1_Missense_Mutation_p.E807K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 807 E -> D (in Ref. 3; AAH07307). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 CAAGTGTAATGAATGTGGCAA 0.408000 4 60 0 0 1 0 0 CHCHD1 118487 broad.mit.edu 37 10 75541950 75541950 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:75541950G>A ENST00000372837.3 + 1 146 c.117G>A c.(115-117)gaG>gaA p.E39E CHCHD1_ENST00000372833.5_Silent_p.E39E Q96BP2 CHCH1_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 1 39 CHCH. nucleus breast(1) 1 Prostate(51;0.0112) GGCGCCGGGAGAAGGGCGGTG 0.667000 19 36 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14577421 14577421 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:14577421C>G ENST00000544627.1 + 2 916 c.596C>G c.(595-597)tCt>tGt p.S199C ATF7IP_ENST00000261168.4_Missense_Mutation_p.S191C|ATF7IP_ENST00000543189.1_Missense_Mutation_p.S191C|ATF7IP_ENST00000540793.1_Missense_Mutation_p.S191C|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S191C|ATF7IP_ENST00000541654.1_3'UTR Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 191 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding p.S191C(1) cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 GATGCCACCTCTGGTGATGCC 0.562000 14 81 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3632618 3632618 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:3632618G>A ENST00000294008.3 - 15 5870 c.5230C>T c.(5230-5232)Cag>Tag p.Q1744* RP11-461A8.1_ENST00000573982.1_lincRNA NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1744 Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 ACGGCTGCCTGCGAGGCACTG 0.617000 Direct reversal of damage 16 21 0 0 1 0 0 TBC1D3P5 440419 broad.mit.edu 37 17 25758266 25758266 + RNA SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:25758266C>T ENST00000586223.1 + 0 2700 NR_033892.1 AGTGCGCTTCCACCTCGGGGC 0.567000 OREG0024258 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 29 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47492838 47492838 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:47492838G>A ENST00000404338.3 + 4 3942 c.3942G>A c.(3940-3942)gtG>gtA p.V1314V NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 1314 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity ACTTTACGGTGAATACCGTGG 0.517000 15 39 0 0 1 0 0 KCTD2 23510 broad.mit.edu 37 17 73045345 73045345 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:73045345G>T ENST00000322444.6 + 2 376 c.370G>T c.(370-372)Gac>Tac p.D124Y KCTD2_ENST00000581589.1_5'UTR|KCTD2_ENST00000584767.1_3'UTR NM_015353.1 NP_056168.1 Q14681 KCTD2_HUMAN potassium channel tetramerization domain containing 2 124 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|lung(2) 3 all_lung(278;0.226) GATTGACAGGGACCCCACCTA 0.488000 5 37 0.184627 0.185224 1 1 0 LAMP5 24141 broad.mit.edu 37 20 9496689 9496689 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:9496689G>A ENST00000246070.2 + 3 772 c.280G>A c.(280-282)Gag>Aag p.E94K LAMP5_ENST00000427562.2_Intron NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 94 integral to membrane CCGGGGAGCTGAGGTGAAGGG 0.632000 6 12 0 0 1 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26032111 26032111 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:26032111C>T ENST00000244661.2 - 1 177 c.178G>A c.(178-180)Gag>Aag p.E60K NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 60 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 ATCAGCAACTCGGTCGACTTT 0.627000 55 85 0 0 1 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43473610 43473610 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:43473610C>G ENST00000532038.1 - 13 1683 c.1548G>C c.(1546-1548)ctG>ctC p.L516L ARHGAP27_ENST00000528384.1_Silent_p.L370L|ARHGAP27_ENST00000442348.1_Silent_p.L711L|ARHGAP27_ENST00000376922.2_Silent_p.L397L|ARHGAP27_ENST00000532891.2_Silent_p.L716L|ARHGAP27_ENST00000428638.1_Silent_p.L738L|ARHGAP27_ENST00000455881.1_Silent_p.L397L Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 738 PH. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) GGATGGTGGCCAGGTTTCCAC 0.647000 16 43 0 0 1 0 0 DVL2 1856 broad.mit.edu 37 17 7132346 7132346 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:7132346C>G ENST00000005340.5 - 9 1258 c.976G>C c.(976-978)Gag>Cag p.E326Q DVL2_ENST00000575458.1_Missense_Mutation_p.E320Q NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 326 PDZ. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 CTCATGTTCTCAAAGTTCATG 0.592000 18 72 0 0 1 0 0 RAD23A 5886 broad.mit.edu 37 19 13060211 13060211 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:13060211C>T ENST00000586534.1 + 7 863 c.802C>T c.(802-804)Cag>Tag p.Q268* RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_Nonsense_Mutation_p.Q103*|RAD23A_ENST00000592268.1_Nonsense_Mutation_p.Q268*|RAD23A_ENST00000316856.3_Nonsense_Mutation_p.Q267* P54725 RD23A_HUMAN RAD23 homolog A (S. cerevisiae) 268 interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 GGAGAACCCTCAGCTTTTACA 0.612000 Nucleotide excision repair (NER) 16 56 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87160624 87160624 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:87160624C>T ENST00000265724.3 - 22 3088 c.2671G>A c.(2671-2673)Gaa>Aaa p.E891K ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.E827K NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 891 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CCAGAACCTTCTAGTTCTTTC 0.338000 11 59 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23706377 23706377 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:23706377C>T ENST00000256797.4 - 16 2175 c.2007G>A c.(2005-2007)ctG>ctA p.L669L ERN2_ENST00000457008.2_Silent_p.L569L NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 621 Protein kinase. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GGCCAGACATCAGCTGCTGCA 0.632000 6 12 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155735905 155735905 + Nonsense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:155735905G>C ENST00000437809.1 - 21 3481 c.3359C>G c.(3358-3360)tCa>tGa p.S1120* GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Nonsense_Mutation_p.S1120*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.S1120*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.S1120* NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1120 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TCTTCTCTTTGAGGGTCTCCG 0.527000 29 68 0 0 1 0 0 STK16 8576 broad.mit.edu 37 2 220113198 220113198 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:220113198C>T ENST00000409638.3 + 8 1007 c.835C>T c.(835-837)Cag>Tag p.Q279* STK16_ENST00000409743.1_Nonsense_Mutation_p.Q247*|STK16_ENST00000409260.1_Nonsense_Mutation_p.Q324*|STK16_ENST00000409516.3_Nonsense_Mutation_p.Q161*|STK16_ENST00000396738.2_Nonsense_Mutation_p.Q279* NM_001008910.2 NP_001008910.1 O75716 STK16_HUMAN serine/threonine kinase 16 279 Protein kinase. protein complex assembly membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(1) 1 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGACCCGCATCAGCGTCCTCA 0.572000 5 60 0 0 1 0 0 EIF5 1983 broad.mit.edu 37 14 103806875 103806875 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:103806875G>C ENST00000216554.3 + 11 1859 c.1183G>C c.(1183-1185)Gaa>Caa p.E395Q EIF5_ENST00000558506.1_Missense_Mutation_p.E395Q|EIF5_ENST00000392715.2_Missense_Mutation_p.E395Q NM_001969.4 NP_001960.2 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 395 Asp/Glu-rich (highly acidic). regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(154;0.155) Epithelial(46;0.182) TGGCGAAGAAGAAGATGAAGA 0.423000 10 63 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71757188 71757188 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:71757188C>T ENST00000318442.5 - 2 626 c.136G>A c.(136-138)Gaa>Aaa p.E46K NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) CGGAGAGCTTCCGGGAAGGGG 0.592000 6 41 0 0 1 0 0 OIP5 11339 broad.mit.edu 37 15 41624617 41624617 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:41624617G>A ENST00000220514.3 - 1 202 c.143C>T c.(142-144)tCg>tTg p.S48L NM_007280.1 NP_009211.1 O43482 MS18B_HUMAN Opa interacting protein 5 48 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding endometrium(3)|lung(1)|urinary_tract(1) 5 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) GCCGAGCGGCGAGGACCCCTT 0.677000 5 57 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94245022 94245022 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:94245022C>G ENST00000515393.1 - 10 1585 c.1586G>C c.(1585-1587)aGa>aCa p.R529T MCTP1_ENST00000505208.1_Missense_Mutation_p.R308T|MCTP1_ENST00000312216.8_Missense_Mutation_p.R308T|MCTP1_ENST00000505078.1_Missense_Mutation_p.R45T|MCTP1_ENST00000429576.2_Missense_Mutation_p.R262T NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 529 C2 2. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) GACTCCTCCTCTTTCTTCATA 0.368000 9 30 0 0 1 0 0 TNF 7124 broad.mit.edu 37 6 31543695 31543695 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:31543695G>C ENST00000449264.2 + 1 352 c.177G>C c.(175-177)caG>caC p.Q59H NM_000594.3 NP_000585.2 P01375 TNFA_HUMAN tumor necrosis factor 59 activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3) 8 Ovarian(999;0.00556) Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041) TCGGCCCCCAGAGGGAAGAGG 0.602000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 3 40 0 0 1 0 0 GALK2 2585 broad.mit.edu 37 15 49531513 49531513 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:49531513C>G ENST00000327171.3 + 5 652 c.420C>G c.(418-420)gtC>gtG p.V140V GALK2_ENST00000544523.1_Silent_p.V127V|GALK2_ENST00000543495.1_Silent_p.V22V|GALK2_ENST00000396509.2_Silent_p.V127V|GALK2_ENST00000559454.1_Silent_p.V127V|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000560031.1_Silent_p.V151V NM_001001556.1 NP_001001556.1 Q01415 GALK2_HUMAN galactokinase 2 151 galactose metabolic process cytoplasm ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 all_lung(180;0.000325) all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05) GTGCTTTGGTCTGTTGTGCTG 0.468000 14 42 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47098382 47098382 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:47098382G>C ENST00000409792.3 - 15 6934 c.6892C>G c.(6892-6894)Caa>Gaa p.Q2298E NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2298 Gln-rich.|Low charge region. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GTCTGTCCTTGATAATATATG 0.408000 """N, F, S, Mis""" clear cell renal carcinoma 9 47 0 0 1 0 0 PIWIL4 143689 broad.mit.edu 37 11 94331053 94331053 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:94331053C>T ENST00000299001.6 + 11 1563 c.1352C>T c.(1351-1353)tCa>tTa p.S451L RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA NM_152431.2 NP_689644.2 Q7Z3Z4 PIWL4_HUMAN piwi-like RNA-mediated gene silencing 4 451 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ATTGTGCCTTCAGAAAAAATA 0.373000 18 21 0 0 1 0 0 CCDC171 203238 broad.mit.edu 37 9 15591402 15591402 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:15591402G>A ENST00000380701.3 + 5 719 c.391G>A c.(391-393)Gag>Aag p.E131K CCDC171_ENST00000297641.3_Missense_Mutation_p.E131K|CCDC171_ENST00000535968.1_Missense_Mutation_p.E131K NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 131 Glu-rich. AAATGAGACTGAGAAAGCATT 0.338000 5 87 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118778990 118778990 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:118778990G>A ENST00000334801.3 - 2 1365 c.401C>T c.(400-402)tCa>tTa p.S134L BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 134 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TTTGGCCTCTGAATCCAGGGA 0.577000 11 14 0 0 1 0 0 ATE1 11101 broad.mit.edu 37 10 123600704 123600704 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:123600704G>A ENST00000369043.3 - 9 1136 c.1050C>T c.(1048-1050)atC>atT p.I350I ATE1_ENST00000369040.3_Silent_p.I254I|ATE1_ENST00000540606.1_Silent_p.I343I|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000543447.1_Silent_p.I235I|ATE1_ENST00000535655.1_Silent_p.I51I|ATE1_ENST00000224652.6_Silent_p.I350I NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 350 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) CCACAGCAATGATCTTTCCGT 0.473000 8 21 0 0 1 0 0 CYP8B1 1582 broad.mit.edu 37 3 42916969 42916969 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:42916969G>A ENST00000316161.4 - 1 664 c.340C>T c.(340-342)Cgt>Tgt p.R114C KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R114C NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 114 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) TGCACTGAACGGTATCCAAAT 0.498000 9 88 0 0 1 0 0 CWC27 10283 broad.mit.edu 37 5 64096131 64096131 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:64096131C>T ENST00000508024.1 + 8 927 c.726C>T c.(724-726)ctC>ctT p.L242L CWC27_ENST00000381070.3_Silent_p.L242L Q6UX04 CWC27_HUMAN CWC27 spliceosome-associated protein homolog (S. cerevisiae) 242 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1) 21 ATCCACATCTCAGTTCTGTTC 0.373000 4 42 0 0 1 0 0 LAMP1 3916 broad.mit.edu 37 13 113975773 113975773 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr13:113975773C>T ENST00000332556.4 + 7 1125 c.931C>T c.(931-933)Cct>Tct p.P311S LAMP1_ENST00000397181.3_Missense_Mutation_p.P258S NM_005561.3 NP_005552.3 P11279 LAMP1_HUMAN lysosomal-associated membrane protein 1 311 Second lumenal domain. endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2) 16 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) TACAATTCTTCCTGACGCCAG 0.493000 15 74 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53190559 53190559 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:53190559C>G ENST00000566029.1 + 2 767 c.558C>G c.(556-558)ctC>ctG p.L186L CHD9_ENST00000447540.1_Silent_p.L186L|CHD9_ENST00000398510.3_Silent_p.L186L|CHD9_ENST00000564845.1_Silent_p.L186L Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 186 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GAAATAATCTCAACCCAGGGC 0.393000 5 77 0 0 1 0 0 CFHR3 10878 broad.mit.edu 37 1 196748485 196748485 + Splice_Site SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:196748485C>T ENST00000471440.2 + 2 326 c.252C>T c.(250-252)ctC>ctT p.L84L CFHR3_ENST00000391985.3_Splice_Site_p.L84L|CFHR3_ENST00000367425.4_Splice_Site_p.L84L complement factor H-related 3 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 TACCATGTCTCAGTAAGTAAT 0.363000 14 24 0 0 1 0 0 ZHX1 11244 broad.mit.edu 37 8 124267736 124267736 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:124267736G>A ENST00000395571.3 - 3 1068 c.451C>T c.(451-453)Ctg>Ttg p.L151L ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Silent_p.L151L|ZHX1_ENST00000522655.1_Silent_p.L151L NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 151 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TCAAAAGTCAGATCATTTATT 0.343000 25 88 0 0 1 0 0 TCAIM 285343 broad.mit.edu 37 3 44434460 44434460 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:44434460C>G ENST00000342649.4 + 6 1113 c.686C>G c.(685-687)tCa>tGa p.S229* TCAIM_ENST00000417237.1_Nonsense_Mutation_p.S229* NM_001282913.1|NM_173826.3 NP_001269842.1|NP_776187.2 T cell activation inhibitor, mitochondrial TTGCAACTCTCAGATATCAGG 0.318000 13 150 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324646 31324646 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr18:31324646G>A ENST00000269197.5 + 12 4834 c.4834G>A c.(4834-4836)Gat>Aat p.D1612N NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1612 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CTGGAATGATGATGGGATGAG 0.463000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 13 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166894311 166894311 + Missense_Mutation SNP A A G rs10613159 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:166894311A>G ENST00000423058.2 - 15 2938 c.2921T>C c.(2920-2922)aTg>aCg p.M974T SCN1A_ENST00000303395.4_Missense_Mutation_p.M974T|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.M963T|SCN1A_ENST00000409050.1_Missense_Mutation_p.M946T NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 974 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CACCATGACCATCATGAAGAC 0.458000 5 93 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7861683 7861683 + Splice_Site SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:7861683G>C ENST00000283147.6 + 3 1016 c.e3-1 NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) CTTTCTTTCAGAGACTCTGAC 0.493000 27 133 0 0 1 0 0 GABRR3 200959 broad.mit.edu 37 3 97744472 97744472 + RNA SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:97744472C>T ENST00000472788.1 - 0 178 NM_001105580.2 NP_001099050.1 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 3 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity large_intestine(2)|lung(1) 3 GCTCATATTTCTGAGGCCGCG 0.393000 5 38 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35923012 35923012 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:35923012G>C ENST00000490799.1 - 17 2502 c.2149C>G c.(2149-2151)Cta>Gta p.L717V SLC26A8_ENST00000394602.2_Missense_Mutation_p.L612V|SLC26A8_ENST00000355574.2_Missense_Mutation_p.L717V NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 717 Interaction with RACGAP1.|STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 CTGGGCAGTAGAGACGCATCT 0.507000 28 41 0 0 1 0 0 VHL 7428 broad.mit.edu 37 3 10191496 10191496 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:10191496C>T ENST00000256474.2 + 3 1329 c.489C>T c.(487-489)ctC>ctT p.L163L VHL_ENST00000345392.2_Silent_p.L122L|VHL_ENST00000477538.1_3'UTR NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 163 Interaction with Elongin BC complex. L -> P (in RCC; with paraneoplastic erythrocytosis; inhibits binding to HIF1AN; dbSNP:rs28940297). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.L158fs*6(1)|p.L163P(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) AGCGATGCCTCCAGGTTGTCC 0.502000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 8 60 0 0 1 0 0 CBL 867 broad.mit.edu 37 11 119169209 119169209 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:119169209C>A ENST00000264033.4 + 15 2769 c.2393C>A c.(2392-2394)tCc>tAc p.S798Y NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 798 Asp/Glu-rich (acidic).|Interaction with CD2AP. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) AATGCCAGCTCCTCCTTTGGC 0.512000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 22 47 2.21704e-12 2.35876e-12 1 1 0 SCRT1 83482 broad.mit.edu 37 8 145559802 145559802 + Silent SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:145559802G>C ENST00000332135.4 - 1 141 c.30C>G c.(28-30)gtC>gtG p.V10V NM_031309.4 NP_112599.2 Q9BWW7 SCRT1_HUMAN scratch family zinc finger 1 10 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|upper_aerodigestive_tract(1) 3 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) CGTCAAGTTTGACCTTCTTGA 0.701000 4 8 0 0 1 0 0 SYS1 90196 broad.mit.edu 37 20 43994261 43994261 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:43994261C>T ENST00000426004.1 + 3 345 c.165C>T c.(163-165)atC>atT p.I55I SYS1_ENST00000414310.1_Silent_p.I34I|SYS1-DBNDD2_ENST00000452133.1_Silent_p.I55I|SYS1-DBNDD2_ENST00000475242.1_3'UTR|SYS1_ENST00000479779.1_3'UTR|SYS1_ENST00000243918.5_Silent_p.I55I|SYS1_ENST00000372727.1_Silent_p.I55I NM_001099791.2 NP_001093261.1 Q8N2H4 SYS1_HUMAN SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) 55 protein transport Golgi membrane|integral to membrane cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1) 7 Myeloproliferative disorder(115;0.0122) CCCCTCAGATCCTGGGCTTTT 0.527000 47 161 0 0 1 0 0 CCDC62 84660 broad.mit.edu 37 12 123286173 123286173 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:123286173G>A ENST00000253079.6 + 9 1824 c.1480G>A c.(1480-1482)Gaa>Aaa p.E494K CCDC62_ENST00000392441.4_Missense_Mutation_p.E494K|CCDC62_ENST00000392440.2_Missense_Mutation_p.E255K|CCDC62_ENST00000537566.1_Missense_Mutation_p.E255K NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 494 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) GGAAAGGTCCGAAATCTCATG 0.483000 6 36 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100676916 100676916 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:100676916C>G ENST00000306151.4 + 3 2283 c.2219C>G c.(2218-2220)tCa>tGa p.S740* NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 740 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ATGCCAACCTCAACTCCTAGT 0.493000 32 337 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131757695 131757695 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:131757695C>T ENST00000372577.2 + 30 3274 c.3253C>T c.(3253-3255)Cac>Tac p.H1085Y NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1085 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 ATTGGCAGTTCACGTGGCCGA 0.488000 23 88 0 0 1 0 0 NCOA4 8031 broad.mit.edu 37 10 51582257 51582257 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:51582257C>T ENST00000452682.1 + 7 855 c.603C>T c.(601-603)atC>atT p.I201I NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000430396.2_Silent_p.I85I|NCOA4_ENST00000414907.2_Silent_p.I19I|NCOA4_ENST00000443446.1_Silent_p.I185I|NCOA4_ENST00000438493.1_Silent_p.I201I|NCOA4_ENST00000374082.1_Silent_p.I185I|NCOA4_ENST00000374087.4_Silent_p.I185I|NCOA4_ENST00000344348.6_Silent_p.I185I NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 185 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 GAGGCTGTATCTCCATGCCAG 0.358000 T RET papillary thyroid 6 33 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110814709 110814709 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr13:110814709G>A ENST00000375820.4 - 48 4451 c.4330C>T c.(4330-4332)Cac>Tac p.H1444Y COL4A1_ENST00000467182.1_5'UTR NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1444 angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AGGAAGCCGTGATCAACAGAT 0.532000 11 139 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57060528 57060528 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:57060528C>G ENST00000436936.1 + 6 1898 c.1673C>G c.(1672-1674)tCa>tGa p.S558* NLRC5_ENST00000262510.6_Nonsense_Mutation_p.S558*|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.S558*|NLRC5_ENST00000308149.7_Nonsense_Mutation_p.S558* Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 558 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CTGGGCCTCTCAGACCACCTC 0.617000 7 50 0 0 1 0 0 BCL6 604 broad.mit.edu 37 3 187444625 187444625 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:187444625C>T ENST00000406870.2 - 7 1968 c.1602G>A c.(1600-1602)aaG>aaA p.K534K RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Silent_p.K534K|BCL6_ENST00000450123.2_Intron|RP11-211G3.3_ENST00000437407.1_Intron NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 534 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) GCGTGTGCCTCTTGAGTGAGG 0.597000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 14 48 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63029147 63029147 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:63029147G>A ENST00000561311.1 + 28 3659 c.3429G>A c.(3427-3429)tcG>tcA p.S1143S TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Silent_p.S1143S Q9Y4G6 TLN2_HUMAN talin 2 1143 Ala-rich. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TGGCTGCATCGACAACCGACC 0.602000 9 30 0 0 1 0 0 DVL2 1856 broad.mit.edu 37 17 7132511 7132511 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:7132511C>T ENST00000005340.5 - 8 1182 c.900G>A c.(898-900)atG>atA p.M300I DVL2_ENST00000575458.1_Missense_Mutation_p.M294I|DVL2_ENST00000574642.1_5'UTR NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 300 PDZ. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 CCCCACCCTTCATGATGGAGC 0.617000 23 73 0 0 1 0 0 PAQR8 85315 broad.mit.edu 37 6 52268495 52268495 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:52268495C>G ENST00000442253.2 + 2 658 c.484C>G c.(484-486)Cat>Gat p.H162D PAQR8_ENST00000360726.3_Missense_Mutation_p.H162D NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 162 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) TGCTTTGGCTCATTTCTTCTA 0.527000 38 137 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79060332 79060332 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:79060332G>C ENST00000321300.6 + 6 534 c.441G>C c.(439-441)aaG>aaC p.K147N BAIAP2_ENST00000575712.1_Missense_Mutation_p.K147N|BAIAP2_ENST00000392411.3_Missense_Mutation_p.K69N|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000575245.1_Missense_Mutation_p.K180N|BAIAP2_ENST00000435091.3_Missense_Mutation_p.K147N|BAIAP2_ENST00000428708.2_Missense_Mutation_p.K147N|BAIAP2_ENST00000321280.7_Missense_Mutation_p.K147N NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 147 IMD. axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) TTCGGAAGAAGAGCCAGGGCA 0.582000 21 76 0 0 1 0 0 KIF24 347240 broad.mit.edu 37 9 34310758 34310758 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:34310758G>A ENST00000379166.2 - 2 706 c.587C>T c.(586-588)tCa>tTa p.S196L KIF24_ENST00000345050.2_Missense_Mutation_p.S196L|KIF24_ENST00000402558.2_Missense_Mutation_p.S196L|KIF24_ENST00000379174.3_Missense_Mutation_p.S196L NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 196 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) GTTATACCCTGAAACATGAGA 0.393000 20 87 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121825277 121825277 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:121825277G>A ENST00000330540.2 + 4 749 c.633G>A c.(631-633)acG>acA p.T211T CD86_ENST00000393627.2_Silent_p.T205T|CD86_ENST00000493101.1_Silent_p.T99T|CD86_ENST00000469710.1_Silent_p.T129T|CD86_ENST00000264468.5_Intron NM_175862.4 NP_787058 P42081 CD86_HUMAN CD86 molecule 211 Ig-like C2-type. interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding p.T211T(2) breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) CTGATGTTACGAGCAATATGA 0.393000 46 200 0 0 1 0 0 VIPR1 7433 broad.mit.edu 37 3 42573310 42573310 + Silent SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:42573310C>A ENST00000433647.1 + 10 1368 c.744C>A c.(742-744)atC>atA p.I248I VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000325123.4_Silent_p.I289I|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Silent_p.I241I|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1_ENST00000438259.2_Silent_p.I79I|VIPR1-AS1_ENST00000452639.3_RNA NM_001251882.1 NP_001238811.1 P32241 VIPR1_HUMAN vasoactive intestinal peptide receptor 1 289 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(284;0.241) GGGACACCATCAACTCCTCAC 0.582000 11 87 6.53275e-17 7.02252e-17 1 1 0 POLG 5428 broad.mit.edu 37 15 89860756 89860756 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:89860756G>A ENST00000268124.5 - 22 3827 c.3494C>T c.(3493-3495)gCc>gTc p.A1165V POLG_ENST00000442287.2_Missense_Mutation_p.A1165V NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 1165 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) CAGCTTGTAGGCAAACATGCA 0.512000 DNA polymerases (catalytic subunits) 20 17 0 0 1 0 0 PSAT1 29968 broad.mit.edu 37 9 80921229 80921229 + Splice_Site SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:80921229G>C ENST00000376588.3 + 5 465 c.e5-1 PSAT1_ENST00000347159.2_Splice_Site NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) TTCTGTGATAGAAATTCCAGA 0.478000 36 147 0 0 1 0 0 CXorf58 254158 broad.mit.edu 37 X 23929921 23929921 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:23929921C>G ENST00000379211.3 + 3 713 c.164C>G c.(163-165)tCt>tGt p.S55C NM_001169574.1|NM_152761.2 NP_001163045.1|NP_689974.2 Q96LI9 CX058_HUMAN chromosome X open reading frame 58 55 breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14 GCTTGGTTATCTCATACAAAC 0.303000 18 87 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120345330 120345330 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:120345330G>C ENST00000397843.2 + 32 3261 c.3095G>C c.(3094-3096)aGa>aCa p.R1032T ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R929T|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R1013T NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1032 PH. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) AAGGTGAATAGAGATAAAACT 0.358000 T MLL AML 12 29 0 0 1 0 0 KHDRBS3 10656 broad.mit.edu 37 8 136561011 136561011 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:136561011G>A ENST00000355849.5 + 4 749 c.339G>A c.(337-339)agG>agA p.R113R KHDRBS3_ENST00000520981.1_Intron NM_006558.1 NP_006549.1 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal transduction associated 3 113 KH. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) AAGAGTTGAGGAAAAGTGGAG 0.353000 16 32 0 0 1 0 0 TRDN 10345 broad.mit.edu 37 6 123709679 123709679 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:123709679C>T ENST00000334268.4 - 14 1440 c.1123G>A c.(1123-1125)Gaa>Aaa p.E375K TRDN_ENST00000398178.3_Missense_Mutation_p.E375K Q13061 TRDN_HUMAN triadin 375 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) TCCTTCTTTTCATCCTTCTTA 0.373000 4 5 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 79639059 79639059 + Translation_Start_Site SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:79639059C>A ENST00000464233.1 - 2 116 c.3G>T c.(1-3)atG>atT p.M1I NM_002941.3 NP_002932.1 Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GTTTCCATTTCATCTTTGTCC 0.403000 16 51 5.3912e-06 5.56434e-06 1 1 0 UPF3B 65109 broad.mit.edu 37 X 118971836 118971836 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:118971836C>G ENST00000276201.2 - 10 1255 c.1186G>C c.(1186-1188)Gag>Cag p.E396Q UPF3B_ENST00000345865.2_Missense_Mutation_p.E383Q NM_080632.2 NP_542199.1 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B (yeast) 396 Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding p.E396Q(1) breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1) 30 GTGTCTTTCTCTTTTTTCATT 0.413000 24 27 0 0 1 0 0 CBX3 11335 broad.mit.edu 37 7 26251786 26251786 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:26251786G>C ENST00000337620.4 + 6 938 c.510G>C c.(508-510)gaG>gaC p.E170D CBX3_ENST00000409747.1_3'UTR|CBX3_ENST00000396386.2_Missense_Mutation_p.E170D NM_007276.4 NP_009207.2 Q13185 CBX3_HUMAN chromobox homolog 3 170 Chromo 2; shadow subtype. chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle enzyme binding|protein domain specific binding endometrium(4)|large_intestine(2)|lung(2)|ovary(1) 9 TTTATGAAGAGAGACTAACTT 0.318000 3 34 0 0 1 0 0 CHRNB1 1140 broad.mit.edu 37 17 7358658 7358658 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:7358658G>A ENST00000306071.2 + 9 1167 c.1100G>A c.(1099-1101)aGa>aAa p.R367K CHRNB1_ENST00000576360.1_Missense_Mutation_p.R246K|CHRNB1_ENST00000536404.2_Missense_Mutation_p.R295K NM_000747.2 NP_000738.2 P11230 ACHB_HUMAN cholinergic receptor, nicotinic, beta 1 (muscle) 367 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity p.R367T(1) NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) AAACCCGAGAGAGACCTGATG 0.522000 12 102 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1920005 1920005 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr4:1920005C>G ENST00000503128.1 + 5 1272 c.1065C>G c.(1063-1065)ctC>ctG p.L355L WHSC1_ENST00000508803.1_Silent_p.L355L|WHSC1_ENST00000398261.1_Silent_p.L355L|WHSC1_ENST00000382895.3_Silent_p.L355L|WHSC1_ENST00000420906.2_Silent_p.L355L|WHSC1_ENST00000382891.5_Silent_p.L355L|WHSC1_ENST00000514045.1_Silent_p.L355L|WHSC1_ENST00000382892.2_Silent_p.L355L O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 355 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) AGCTTCATCTCAACCCTCAAG 0.512000 T IGH@ MM 11 49 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 980483 980483 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:980483C>T ENST00000537687.1 + 10 4074 c.3431C>T c.(3430-3432)tCa>tTa p.S1144L WNK1_ENST00000535572.1_Missense_Mutation_p.S731L|WNK1_ENST00000315939.6_Missense_Mutation_p.S731L|WNK1_ENST00000530271.2_Missense_Mutation_p.S1229L|WNK1_ENST00000340908.4_Missense_Mutation_p.S324L NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 889 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) ACAGGGGTTTCATCTTCCCAA 0.433000 14 17 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61506960 61506960 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:61506960C>G ENST00000257215.5 + 17 1796 c.1680C>G c.(1678-1680)acC>acG p.T560T NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 560 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) TGGGGGCCACCAAATGCATCC 0.657000 12 26 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348371 89348371 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:89348371C>T ENST00000301030.4 - 9 5039 c.4579G>A c.(4579-4581)Gat>Aat p.D1527N ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1527N NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1527 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) AGTTTGGCATCGCCGAGCCTC 0.592000 12 44 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18321959 18321959 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:18321959C>T ENST00000355502.3 - 19 2790 c.1919G>A c.(1918-1920)cGa>cAa p.R640Q PDE4C_ENST00000539010.1_Missense_Mutation_p.R409Q|PDE4C_ENST00000597297.1_Missense_Mutation_p.R410Q|PDE4C_ENST00000594617.3_Missense_Mutation_p.R640Q|PDE4C_ENST00000262805.12_Missense_Mutation_p.R608Q|PDE4C_ENST00000598111.2_Missense_Mutation_p.R355Q|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594465.3_Missense_Mutation_p.R640Q|PDE4C_ENST00000447275.3_Missense_Mutation_p.R534Q Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 640 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) TGAGGGACTTCGGGGGATCTT 0.592000 11 56 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156843555 156843555 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:156843555C>T ENST00000368196.3 + 8 1101 c.981C>T c.(979-981)ttC>ttT p.F327F NTRK1_ENST00000358660.3_Silent_p.F327F|NTRK1_ENST00000392302.2_Silent_p.F297F|NTRK1_ENST00000524377.1_Silent_p.F327F NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 327 Ig-like C2-type 2. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) AGACCAGCTTCATCTTCACTG 0.612000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 7 30 0 0 1 0 0 IGHV1-58 28464 broad.mit.edu 37 14 107078514 107078514 + RNA SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:107078514G>A ENST00000390628.2 - 0 270 TGCCAACGACGATCCATCCTA 0.522000 10 94 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27506995 27506995 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:27506995G>T ENST00000396271.3 - 7 869 c.743C>A c.(742-744)tCc>tAc p.S248Y ACBD5_ENST00000375901.1_Missense_Mutation_p.S139Y|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000375888.1_Missense_Mutation_p.S257Y|ACBD5_ENST00000375905.4_Missense_Mutation_p.S213Y NM_001271512.1|NM_145698.3 NP_001258441.1|NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 257 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 GCCATTCAGGGAAGAACTGGC 0.408000 33 84 1.61788e-16 1.73517e-16 1 1 0 TCEANC2 127428 broad.mit.edu 37 1 54554418 54554418 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:54554418G>A ENST00000234827.1 + 4 593 c.393G>A c.(391-393)ttG>ttA p.L131L TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Silent_p.L161L NM_153035.1 NP_694580.1 Q96MN5 TEAN2_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 2 131 TFIIS central. transcription, DNA-dependent nucleus DNA binding kidney(1)|lung(3)|pancreas(1) 5 CCGAGTCGTTGAGGAAAAATG 0.333000 24 70 0 0 1 0 0 OR52N2 390077 broad.mit.edu 37 11 5841715 5841715 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:5841715C>T ENST00000317037.2 + 1 172 c.150C>T c.(148-150)ctC>ctT p.L50L TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCATCTGCCTCATCAGCCATG 0.552000 5 68 0 0 1 0 0 FBXO46 23403 broad.mit.edu 37 19 46216413 46216413 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:46216413C>T ENST00000317683.3 - 2 474 c.341G>A c.(340-342)cGg>cAg p.R114Q NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 114 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GGAGCTGGCCCGGCTGCCCCC 0.632000 20 41 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98609757 98609757 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:98609757G>C ENST00000359863.4 + 72 11568 c.11359G>C c.(11359-11361)Gag>Cag p.E3787Q TRRAP_ENST00000446306.3_Missense_Mutation_p.E3776Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.E3758Q NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3787 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AAAAACACAAGAGGACACGTC 0.552000 13 34 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34140574 34140574 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:34140574C>G ENST00000389232.4 + 94 13650 c.13580C>G c.(13579-13581)tCt>tGt p.S4527C RYR3_ENST00000559917.1_3'UTR|RYR3_ENST00000415757.3_Missense_Mutation_p.S4522C NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4527 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GAACAGCCATCTGAAGATGAC 0.493000 6 45 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270422 1270422 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:1270422G>A ENST00000348261.5 + 35 6738 c.6490G>A c.(6490-6492)Gag>Aag p.E2164K CACNA1H_ENST00000565831.1_Missense_Mutation_p.E2158K|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E2158K NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2164 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GGGCAGCGGGGAGCCTGGGGA 0.716000 4 26 0 0 1 0 0 THAP7 80764 broad.mit.edu 37 22 21355576 21355576 + Missense_Mutation SNP C C G rs145388226 byFrequency TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr22:21355576C>G ENST00000215742.4 - 2 379 c.205G>C c.(205-207)Gag>Cag p.E69Q THAP7_ENST00000399133.2_Missense_Mutation_p.E69Q NM_030573.2 NP_085050.2 Q9BT49 THAP7_HUMAN THAP domain containing 7 69 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1) 8 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CAGTCCTCCTCAAAGTGTTTG 0.662000 19 65 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17699362 17699362 + Silent SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:17699362G>C ENST00000399080.2 - 1 344 c.321C>G c.(319-321)ctC>ctG p.L107L NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 107 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTTGGAATTTGAGATTTGAGC 0.453000 28 76 0 0 1 0 0 MAPRE1 22919 broad.mit.edu 37 20 31424561 31424561 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:31424561G>C ENST00000375571.5 + 4 528 c.389G>C c.(388-390)aGa>aCa p.R130T NM_012325.2 NP_036457.1 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, member 1 130 Interaction with MTUS2/TIP150. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 GTGGCTGCCAGACAAGGTCAA 0.428000 4 161 0 0 1 0 0 NRD1 4898 broad.mit.edu 37 1 52271216 52271216 + Missense_Mutation SNP G G C rs12087917 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:52271216G>C ENST00000354831.7 - 21 2521 c.2332C>G c.(2332-2334)Cta>Gta p.L778V NRD1_ENST00000539524.1_Missense_Mutation_p.L646V|NRD1_ENST00000544028.1_Missense_Mutation_p.L578V|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.L710V NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 709 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 GGTGAAATTAGATGGAAACGT 0.274000 12 31 0 0 1 0 0 PMS2P4 5382 broad.mit.edu 37 7 66760713 66760713 + RNA SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:66760713G>T ENST00000414507.1 - 0 346 TTTTCTGGATGATTTTCCCAT 0.502000 28 131 1.55811e-20 1.68269e-20 1 1 0 PRKDC 5591 broad.mit.edu 37 8 48734323 48734323 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:48734323C>T ENST00000314191.2 - 66 9006 c.8950G>A c.(8950-8952)Gag>Aag p.E2984K PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E2984K NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2985 FAT.|KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TCTGTGGGCTCACCATCTACC 0.403000 Non-homologous end-joining 9 3 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9512588 9512588 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:9512588C>T ENST00000402466.1 + 20 3644 c.2876C>T c.(2875-2877)cCc>cTc p.P959L SETD5_ENST00000407969.1_Missense_Mutation_p.P1076L|SETD5_ENST00000402198.1_Missense_Mutation_p.P1057L|SETD5_ENST00000406341.1_Missense_Mutation_p.P1057L|SETD5_ENST00000302463.6_Missense_Mutation_p.P959L Q9C0A6 SETD5_HUMAN SET domain containing 5 1057 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) CCATCTGCCCCCCAGAACCCA 0.433000 4 13 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60427878 60427878 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:60427878C>T ENST00000360469.5 + 6 889 c.801C>T c.(799-801)gtC>gtT p.V267V CDH4_ENST00000543233.1_Silent_p.V193V NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 267 Cadherin 1. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) ACATCTACGTCATCGACATGA 0.572000 23 74 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123983364 123983364 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:123983364C>G ENST00000306315.5 - 4 3148 c.2713G>C c.(2713-2715)Gaa>Caa p.E905Q ZNF608_ENST00000504926.1_Missense_Mutation_p.E478Q NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 905 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GTGCTGCATTCCAGCCTCGAG 0.572000 15 26 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179542528 179542528 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:179542528G>A ENST00000589042.1 - 146 34335 c.34111C>T c.(34111-34113)Cta>Tta p.L11371L TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.L10127L|TTN_ENST00000591111.1_Silent_p.L11054L|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11054 Glu-rich.|Pro-rich. 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) TCCTCAGGTAGAACTTCCTCT 0.443000 5 91 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64669520 64669520 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:64669520C>T ENST00000421419.2 - 29 4153 c.4039G>A c.(4039-4041)Gaa>Aaa p.E1347K ATG2A_ENST00000377264.3_Missense_Mutation_p.E1345K Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1345 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 CTTTCATCTTCCTTCTCCTCT 0.622000 37 36 0 0 1 0 0 RSBN1L 222194 broad.mit.edu 37 7 77326100 77326100 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:77326100C>G ENST00000334955.8 + 1 341 c.314C>G c.(313-315)tCt>tGt p.S105C NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like Ser-rich. nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGCAGTTTCTCTTTCTCCGCT 0.652000 3 25 0 0 1 0 0 UPF3B 65109 broad.mit.edu 37 X 118971859 118971859 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:118971859C>G ENST00000276201.2 - 10 1232 c.1163G>C c.(1162-1164)aGa>aCa p.R388T UPF3B_ENST00000345865.2_Missense_Mutation_p.R375T NM_080632.2 NP_542199.1 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B (yeast) 388 Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1) 30 TTCTTCTTTTCTCTTAAAAGT 0.428000 28 37 0 0 1 0 0 SIRT5 23408 broad.mit.edu 37 6 13592024 13592024 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:13592024G>A ENST00000606117.1 + 5 669 c.373G>A c.(373-375)Gag>Aag p.E125K SIRT5_ENST00000359782.3_Missense_Mutation_p.E125K|SIRT5_ENST00000379262.4_Missense_Mutation_p.E125K|SIRT5_ENST00000397350.2_Missense_Mutation_p.E17K NM_012241.4 NP_036373.1 Q9NXA8 SIRT5_HUMAN sirtuin 5 125 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) AGCCGAGTGTGAGACCCGGCT 0.652000 10 37 0 0 1 0 0 TRAPPC1 58485 broad.mit.edu 37 17 7834868 7834868 + Silent SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:7834868G>C ENST00000303731.4 - 2 241 c.126C>G c.(124-126)ctC>ctG p.L42L TRAPPC1_ENST00000540486.1_Silent_p.L42L NM_021210.4 NP_067033.1 Q9Y5R8 TPPC1_HUMAN trafficking protein particle complex 1 42 ER to Golgi vesicle-mediated transport endoplasmic reticulum breast(1)|lung(2) 3 Prostate(122;0.173) GGATAGAGAAGAGCATCCCGT 0.567000 4 54 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31931709 31931709 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:31931709C>T ENST00000375394.2 + 16 1780 c.1667C>T c.(1666-1668)tCc>tTc p.S556F SKIV2L_ENST00000544581.1_Missense_Mutation_p.S363F NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 556 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GTGTACCTGTCCCTCCTGGCC 0.622000 80 110 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241946630 241946630 + Silent SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:241946630C>A ENST00000366552.2 + 22 2829 c.2622C>A c.(2620-2622)atC>atA p.I874I WDR64_ENST00000437684.2_Silent_p.I707I NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 874 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) TTCAAGTAATCTATGTAGAAG 0.403000 12 27 0.00244969 0.00249521 1 1 0 ATP10D 57205 broad.mit.edu 37 4 47562975 47562975 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr4:47562975G>A ENST00000273859.3 + 14 2820 c.2551G>A c.(2551-2553)Gac>Aac p.D851N NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 851 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 GGTCATGAGTGACACTGAATA 0.418000 14 43 0 0 1 0 0 UBE2S 27338 broad.mit.edu 37 19 55918274 55918274 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:55918274C>T ENST00000264552.9 - 2 247 c.60G>A c.(58-60)gtG>gtA p.V20V UBE2S_ENST00000589978.1_Silent_p.V20V NM_014501.2 NP_055316.2 Q16763 UBE2S_HUMAN ubiquitin-conjugating enzyme E2S 20 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination anaphase-promoting complex ATP binding|ubiquitin-protein ligase activity lung(1) 1 Breast(117;0.155) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.11) TCAGTGTCGTCACCTCCTTGT 0.602000 6 40 0 0 1 0 0 CASKIN1 57524 broad.mit.edu 37 16 2239141 2239141 + Silent SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:2239141G>T ENST00000343516.6 - 6 596 c.504C>A c.(502-504)ctC>ctA p.L168L NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 168 signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 TATTGCTGCTGAGGAGCAGCT 0.672000 10 22 0.0581538 0.0585306 1 1 0 FGD3 89846 broad.mit.edu 37 9 95778075 95778075 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:95778075C>T ENST00000375482.3 + 10 1735 c.1239C>T c.(1237-1239)ttC>ttT p.F413F FGD3_ENST00000416701.2_Silent_p.F413F|FGD3_ENST00000538555.1_Silent_p.F16F|FGD3_ENST00000337352.6_Silent_p.F413F NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 413 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 GCCAGAAGTTCAGCGTCCGGG 0.597000 10 30 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1260648 1260648 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:1260648G>A ENST00000348261.5 + 20 4283 c.4035G>A c.(4033-4035)gtG>gtA p.V1345V CACNA1H_ENST00000565831.1_Silent_p.V1345V|CACNA1H_ENST00000358590.4_Silent_p.V1345V NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1345 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) AGATGATGGTGAAGGTACCGC 0.672000 5 7 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21268330 21268330 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:21268330C>T ENST00000602326.1 - 12 1750 c.1167G>A c.(1165-1167)ttG>ttA p.L389L EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374937.3_Silent_p.L389L|EIF4G3_ENST00000356916.3_Silent_p.L394L|EIF4G3_ENST00000374927.4_Silent_p.L383L|EIF4G3_ENST00000264211.8_Silent_p.L383L|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000400422.1_Silent_p.L383L NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 383 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) ATTCAAGAGTCAATGGCAATA 0.403000 19 73 0 0 1 0 0 PYGO1 26108 broad.mit.edu 37 15 55838328 55838328 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:55838328C>G ENST00000302000.6 - 3 1247 c.1153G>C c.(1153-1155)Gaa>Caa p.E385Q PYGO1_ENST00000563719.1_Missense_Mutation_p.E385Q NM_015617.1 NP_056432.1 Q9Y3Y4 PYGO1_HUMAN pygopus family PHD finger 1 385 Wnt receptor signaling pathway nucleus zinc ion binding endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) GCAGATGCTTCTGCAGTTAAG 0.463000 17 53 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26580881 26580881 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:26580881G>C ENST00000381340.3 - 49 7326 c.6910C>G c.(6910-6912)Ctt>Gtt p.L2304V NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2304 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) GTAGGCCCAAGACCTATTGTA 0.348000 8 47 0 0 1 0 0 IFT74 80173 broad.mit.edu 37 9 27009124 27009124 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:27009124G>C ENST00000443698.1 + 9 865 c.694G>C c.(694-696)Gag>Cag p.E232Q IFT74_ENST00000380062.5_Missense_Mutation_p.E232Q|IFT74_ENST00000429045.2_Missense_Mutation_p.E232Q|IFT74_ENST00000433700.1_Missense_Mutation_p.E232Q NM_001099222.1 NP_001092692.1 Q96LB3 IFT74_HUMAN intraflagellar transport 74 homolog (Chlamydomonas) 232 cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 all_neural(11;2.36e-10) Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) CAAGTACCTAGAGATGAAAAC 0.323000 19 85 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44218130 44218130 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:44218130G>A ENST00000371554.1 + 6 965 c.751G>A c.(751-753)Gaa>Aaa p.E251K HSP90AB1_ENST00000371646.5_Missense_Mutation_p.E251K|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.E251K P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 251 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) acccaagatcgaagatgtggg 0.393000 4 22 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149508064 149508064 + RNA SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:149508064C>T ENST00000378016.2 + 0 9458 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTCTACCCCCCGGGCAGCACT 0.602000 8 41 0 0 1 0 0 CDCA7 83879 broad.mit.edu 37 2 174228055 174228055 + Silent SNP A A G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:174228055A>G ENST00000306721.3 + 4 589 c.486A>G c.(484-486)ggA>ggG p.G162G CDCA7_ENST00000347703.3_Silent_p.G83G|CDCA7_ENST00000410101.3_Silent_p.G118G|CDCA7_ENST00000410019.3_Silent_p.G41G|CDCA7_ENST00000392567.2_Silent_p.G83G NM_031942.4 NP_114148.3 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 83 Arg-rich. regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) GTACCAGGGGAGCAACCAACA 0.537000 3 55 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44578141 44578141 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:44578141C>T ENST00000322927.2 - 25 3836 c.3736G>A c.(3736-3738)Gaa>Aaa p.E1246K ZNF335_ENST00000426788.1_Missense_Mutation_p.E1091K NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1246 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) TGATGGCCTTCAGGGACCACA 0.602000 7 11 0 0 1 0 0 TMEM68 137695 broad.mit.edu 37 8 56668838 56668838 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:56668838C>T ENST00000434581.2 - 4 657 c.458G>A c.(457-459)cGa>cAa p.R153Q TMEM68_ENST00000334667.2_Missense_Mutation_p.R153Q|TMEM68_ENST00000519784.1_Missense_Mutation_p.R39Q|TMEM68_ENST00000523073.1_Missense_Mutation_p.R39Q Q96MH6 TMM68_HUMAN transmembrane protein 68 153 integral to membrane acyltransferase activity NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 Epithelial(17;0.000361)|all cancers(17;0.00326) AGCTACTACTCGGCAAGTTCT 0.313000 6 33 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20044676 20044676 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:20044676G>C ENST00000343769.5 + 4 940 c.912G>C c.(910-912)aaG>aaC p.K304N AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 304 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 CTAAACATAAGAAAATTCATA 0.368000 3 66 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 30961227 30961227 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr21:30961227C>T ENST00000399914.1 - 10 1977 c.1456G>A c.(1456-1458)Gat>Aat p.D486N GRIK1_ENST00000399913.1_Missense_Mutation_p.D501N|GRIK1_ENST00000389124.2_Missense_Mutation_p.D501N|GRIK1_ENST00000535441.1_Missense_Mutation_p.D503N|GRIK1_ENST00000399907.1_Missense_Mutation_p.D501N|GRIK1_ENST00000399909.1_Missense_Mutation_p.D486N|GRIK1_ENST00000389125.3_Missense_Mutation_p.D486N|GRIK1_ENST00000309434.7_Missense_Mutation_p.D503N|GRIK1_ENST00000327783.4_Missense_Mutation_p.D501N P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 501 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) TATTTGCCATCGGGAACTAGT 0.383000 26 104 0 0 1 0 0 HIST1H2BI 8346 broad.mit.edu 37 6 26273344 26273344 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:26273344G>A ENST00000377733.2 + 1 201 c.141G>A c.(139-141)aaG>aaA p.K47K NM_003525.2 NP_003516.1 P62807 H2B1C_HUMAN histone cluster 1, H2bi 47 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1) 16 AGGTGCTGAAGCAGGTCCACC 0.577000 116 179 0 0 1 0 0 CCDC11 220136 broad.mit.edu 37 18 47765070 47765070 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr18:47765070G>A ENST00000398545.4 - 7 1336 c.1219C>T c.(1219-1221)Cga>Tga p.R407* NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 407 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) TTAGCTTCTCGTTGCACTAAG 0.358000 3 21 0 0 1 0 0 RHOJ 57381 broad.mit.edu 37 14 63747706 63747706 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:63747706G>A ENST00000316754.3 + 3 717 c.255G>A c.(253-255)ctG>ctA p.L85L RHOJ_ENST00000555125.1_Silent_p.L85L NM_020663.4 NP_065714.1 Q9H4E5 RHOJ_HUMAN ras homolog family member J 85 actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity p.L85L(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) ACAACCAGCTGAGGCCACTCT 0.517000 3 51 0 0 1 0 0 RMDN2 151393 broad.mit.edu 37 2 38201307 38201307 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:38201307G>A ENST00000407257.1 + 3 1258 c.1111G>A c.(1111-1113)Gag>Aag p.E371K RMDN2_ENST00000417700.2_Missense_Mutation_p.E48K|RMDN2_ENST00000406384.1_Missense_Mutation_p.E193K|RMDN2_ENST00000354545.2_Missense_Mutation_p.E193K|RMDN2_ENST00000234195.3_Missense_Mutation_p.E371K|RMDN2-AS1_ENST00000414365.2_RNA regulator of microtubule dynamics 2 ACGTATGAGTGAGTCTGGCAA 0.363000 11 55 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138742269 138742269 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:138742269G>C ENST00000389532.4 - 6 911 c.847C>G c.(847-849)Ctg>Gtg p.L283V CAMSAP1_ENST00000312405.6_Missense_Mutation_p.L5V|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.L294V NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 283 CH. cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) ATATTATACAGACTGTCGGCC 0.348000 16 60 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106109143 106109143 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:106109143C>T ENST00000357242.5 + 16 2716 c.2542C>T c.(2542-2544)Cac>Tac p.H848Y TBC1D8B_ENST00000276175.3_Missense_Mutation_p.H842Y NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 848 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AGCGTTGTATCACTTGTTGAG 0.413000 22 116 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133796839 133796839 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:133796839G>A ENST00000321016.8 - 13 2009 c.1779C>T c.(1777-1779)ttC>ttT p.F593F IGSF9B_ENST00000533871.2_Silent_p.F593F Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 593 Fibronectin type-III 1. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCACCTCACTGAAGGCGCTGG 0.642000 7 9 0 0 1 0 0 SH3BP1 23616 broad.mit.edu 37 22 38051603 38051603 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr22:38051603G>A ENST00000357436.4 + 18 2331 c.2018G>A c.(2017-2019)gGa>gAa p.G673E SH3BP1_ENST00000599616.1_Intron|Z83844.1_ENST00000456099.1_RNA NM_018957.3 NP_061830.3 Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 673 signal transduction cytoplasm GTPase activator activity|SH3 domain binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) GCAGAGGGAGGAGCCCCTGAG 0.682000 5 3 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47831535 47831535 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr21:47831535G>A ENST00000359568.5 + 28 5655 c.5548G>A c.(5548-5550)Gaa>Aaa p.E1850K PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1850 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GGCTGAGGTCGAAGACATGGC 0.617000 7 49 0 0 1 0 0 NAA25 80018 broad.mit.edu 37 12 112478314 112478314 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:112478314G>C ENST00000261745.4 - 21 2757 c.2509C>G c.(2509-2511)Ctt>Gtt p.L837V NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 837 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 TTTTCTAAAAGAGTAGGATGT 0.303000 11 70 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31393135 31393135 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:31393135C>T ENST00000268296.4 + 30 3520 c.3399C>T c.(3397-3399)ttC>ttT p.F1133F ITGAX_ENST00000562522.1_Silent_p.F1133F NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 1133 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 TTGGCTTCTTCAAGCGTCAGT 0.522000 25 71 0 0 1 0 0 APCS 325 broad.mit.edu 37 1 159558316 159558316 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:159558316G>A ENST00000255040.2 + 2 587 c.490G>A c.(490-492)Gat>Aat p.D164N NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 164 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) GGGCAAGTTTGATAGGAGCCA 0.517000 12 37 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35634899 35634899 + Splice_Site SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:35634899C>G ENST00000353139.5 - 6 1092 c.e6-1 ACACA_ENST00000335166.5_Splice_Site|ACACA_ENST00000394406.2_Splice_Site|ACACA_ENST00000360679.3_Splice_Site NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TTAATGTATTCTGAAAATGCA 0.348000 3 54 0 0 1 0 0 NDC80 10403 broad.mit.edu 37 18 2595426 2595426 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr18:2595426G>T ENST00000261597.4 + 11 1209 c.1027G>T c.(1027-1029)Gaa>Taa p.E343* NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 343 Interaction with NEK2 and ZWINT.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 ACTAGAATGTGAAACAATAAA 0.318000 12 36 9.05144e-12 9.61909e-12 1 1 0 PTPRT 11122 broad.mit.edu 37 20 40980872 40980872 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:40980872C>T ENST00000373198.4 - 10 1849 c.1614G>A c.(1612-1614)caG>caA p.Q538Q PTPRT_ENST00000373187.1_Silent_p.Q538Q|PTPRT_ENST00000373184.1_Silent_p.Q538Q|PTPRT_ENST00000373190.1_Silent_p.Q538Q|PTPRT_ENST00000356100.2_Silent_p.Q538Q|PTPRT_ENST00000373201.1_Silent_p.Q538Q|PTPRT_ENST00000373193.3_Silent_p.Q538Q NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CTTTCCCCCTCTGGCTCGAGA 0.522000 5 58 0 0 1 0 0 ZNF773 374928 broad.mit.edu 37 19 58016043 58016043 + Nonstop_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:58016043G>C ENST00000601674.1 + 3 412 c.179G>C c.(178-180)tGa>tCa p.*60S ZNF773_ENST00000282292.4_Missense_Mutation_p.E18Q|ZNF773_ENST00000593916.1_Missense_Mutation_p.E17Q|ZNF773_ENST00000599847.1_Missense_Mutation_p.E18Q|ZNF773_ENST00000598770.1_Missense_Mutation_p.E17Q TGTGACCTTTGAGGACGTGGC 0.507000 31 91 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38926821 38926821 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:38926821C>G ENST00000450244.1 - 17 3220 c.3022G>C c.(3022-3024)Gag>Cag p.E1008Q SCN11A_ENST00000302328.3_Missense_Mutation_p.E1008Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.E970Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.E1008Q Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1008 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GGAACCATCTCAGGTAACCAT 0.438000 15 63 0 0 1 0 0 HEMGN 55363 broad.mit.edu 37 9 100693142 100693142 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:100693142C>T ENST00000259456.3 - 4 678 c.535G>A c.(535-537)Gaa>Aaa p.E179K NM_018437.3|NM_197978.2 NP_060907.2|NP_932095.1 Q9BXL5 HEMGN_HUMAN hemogen 179 cell differentiation|multicellular organismal development NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(62;0.0559) ACAGATATTTCTTGGTACATT 0.368000 4 166 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15952281 15952281 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:15952281C>T ENST00000268712.3 - 41 6671 c.6414G>A c.(6412-6414)gaG>gaA p.E2138E NCOR1_ENST00000395851.1_Silent_p.E2035E|NCOR1_ENST00000395857.3_Silent_p.E722E NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2138 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CGTGACTCCTCTCTGGGGATT 0.478000 20 44 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179639767 179639767 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:179639767G>A ENST00000589042.1 - 29 6895 c.6671C>T c.(6670-6672)tCt>tTt p.S2224F TTN_ENST00000359218.5_Missense_Mutation_p.S2178F|TTN_ENST00000460472.2_Missense_Mutation_p.S2178F|TTN_ENST00000342175.6_Missense_Mutation_p.S2178F|TTN_ENST00000360870.5_Missense_Mutation_p.S2224F|TTN_ENST00000342992.6_Missense_Mutation_p.S2224F|TTN_ENST00000591111.1_Missense_Mutation_p.S2224F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1961 Ig-like 11. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S2178Y(6)|p.S2224Y(6) 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) CTTTCTGTCAGAGTGCATCCT 0.398000 4 43 0 0 1 0 0 NUDT19 390916 broad.mit.edu 37 19 33183224 33183224 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:33183224G>A ENST00000397061.3 + 1 358 c.358G>A c.(358-360)Gag>Aag p.E120K NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 120 Nudix hydrolase. mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) GACGCTGCCTGAGGACGTAGC 0.711000 5 20 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39913224 39913224 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:39913224C>T ENST00000342274.4 - 14 5151 c.4789G>A c.(4789-4791)Gat>Aat p.D1597N BCOR_ENST00000378444.4_Missense_Mutation_p.D1631N|BCOR_ENST00000378455.4_Missense_Mutation_p.D1579N|BCOR_ENST00000378463.1_Missense_Mutation_p.D474N|BCOR_ENST00000397354.3_Missense_Mutation_p.D1597N NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1631 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CTATAGGCATCGTCATCATCA 0.468000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 6 22 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13670762 13670762 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:13670762C>T ENST00000404922.3 + 13 2931 c.2812C>T c.(2812-2814)Cag>Tag p.Q938* FBLN2_ENST00000535798.1_Nonsense_Mutation_p.Q917*|FBLN2_ENST00000492059.1_Nonsense_Mutation_p.Q938*|FBLN2_ENST00000295760.7_Nonsense_Mutation_p.Q891* NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 933 EGF-like 7; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) AGCCGGCTTTCAGCGGGATGC 0.642000 10 13 0 0 1 0 0 ANGEL1 23357 broad.mit.edu 37 14 77275699 77275699 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:77275699G>A ENST00000251089.2 - 2 464 c.352C>T c.(352-354)Cgg>Tgg p.R118W ANGEL1_ENST00000554941.1_5'UTR NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 118 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) TCTGCAGCCCGAAGGTCACTC 0.592000 4 36 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 63024717 63024717 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:63024717G>C ENST00000251157.5 - 20 2407 c.2374C>G c.(2374-2376)Ctg>Gtg p.L792V DOCK7_ENST00000340370.5_Missense_Mutation_p.L792V NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 792 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 TTATCTAGCAGAAGATGAAGA 0.368000 17 40 0 0 1 0 0 CCNB2 9133 broad.mit.edu 37 15 59406801 59406801 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:59406801C>T ENST00000288207.2 + 4 617 c.426C>T c.(424-426)ctC>ctT p.L142L CCNB2_ENST00000559622.1_Silent_p.L61L NM_004701.3 NP_004692.1 O95067 CCNB2_HUMAN cyclin B2 142 cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle centrosome|cytosol|nucleus protein kinase binding kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 9 ATCAGTATCTCAGGCAGCTGG 0.438000 7 26 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57114257 57114257 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:57114257G>A ENST00000454682.1 - 3 1338 c.1057C>T c.(1057-1059)Cag>Tag p.Q353* NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Nonsense_Mutation_p.Q353*|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 ACAGATCTCTGAGAAGGATAA 0.483000 T BCL6 NHL 3 14 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82789632 82789632 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:82789632C>T ENST00000265077.3 + 5 1195 c.630C>T c.(628-630)atC>atT p.I210I VCAN_ENST00000343200.5_Silent_p.I210I|VCAN_ENST00000342785.4_Silent_p.I210I|VCAN_ENST00000502527.2_Silent_p.I210I|VCAN_ENST00000512590.2_Silent_p.I162I|VCAN_ENST00000513984.1_Silent_p.I210I NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 210 Link 1. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GATATCCCATCCGGGCTCCCA 0.473000 6 69 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 135975664 135975664 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:135975664C>T ENST00000393160.3 - 17 2748 c.2395G>A c.(2395-2397)Gat>Aat p.D799N RALGDS_ENST00000372050.3_Missense_Mutation_p.D854N|RALGDS_ENST00000372062.3_Missense_Mutation_p.D825N|RALGDS_ENST00000393157.3_Missense_Mutation_p.D853N|RALGDS_ENST00000372047.3_Missense_Mutation_p.D842N|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.D925N NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 854 Ras-associating. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CTCCGGTCATCTGAGAGAATC 0.582000 T CIITA """PMBL, Hodgkin Lymphona, """ 47 149 0 0 1 0 0 NRDE2 55051 broad.mit.edu 37 14 90744739 90744739 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:90744739C>T ENST00000354366.3 - 14 3668 c.3436G>A c.(3436-3438)Gag>Aag p.E1146K NRDE2_ENST00000357904.3_Missense_Mutation_p.E915K NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing AGCTCCTTCTCAGTCATCAGG 0.632000 12 28 0 0 1 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44612629 44612629 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:44612629C>G ENST00000273320.3 + 6 2456 c.2027C>G c.(2026-2028)tCc>tGc p.S676C RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.S676C|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 AGTTATAGCTCCAGCCTTATG 0.403000 15 117 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11346602 11346602 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:11346602G>A ENST00000304623.8 - 9 1699 c.1510C>T c.(1510-1512)Cga>Tga p.R504* CTNND2_ENST00000503622.1_Nonsense_Mutation_p.R167*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.R413*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.R71*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.R504* NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 504 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TGCAGCTGTCGGTAGGGGTCC 0.647000 48 91 0 0 1 0 0 RABGAP1 23637 broad.mit.edu 37 9 125835837 125835837 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:125835837G>A ENST00000373647.4 + 16 2124 c.1990G>A c.(1990-1992)Gaa>Aaa p.E664K RABGAP1_ENST00000373643.5_Missense_Mutation_p.E3K|RABGAP1_ENST00000493854.1_3'UTR NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 664 Rab-GAP TBC. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 ACAGATGCCTGAAGAACAGGC 0.413000 8 193 0 0 1 0 0 DCAF6 55827 broad.mit.edu 37 1 167960533 167960533 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:167960533C>T ENST00000367840.3 + 6 738 c.644C>T c.(643-645)tCa>tTa p.S215L DCAF6_ENST00000312263.6_Missense_Mutation_p.S215L|DCAF6_ENST00000367843.3_Missense_Mutation_p.S215L|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000432587.2_Missense_Mutation_p.S184L NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 215 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 TCTGACAGCTCAGTACGAATA 0.398000 16 54 0 0 1 0 0 TMEM206 55248 broad.mit.edu 37 1 212550967 212550967 + Silent SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:212550967G>T ENST00000261455.4 - 6 857 c.720C>A c.(718-720)gtC>gtA p.V240V TMEM206_ENST00000535273.1_Silent_p.V301V NM_018252.2 NP_060722.2 Q9H813 TM206_HUMAN transmembrane protein 206 240 integral to membrane breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 17 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) GTGACATCTTGACCCAGGTGC 0.572000 5 49 2.0095e-06 2.09024e-06 1 1 0 ZNF711 7552 broad.mit.edu 37 X 84510342 84510342 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:84510342G>T ENST00000360700.4 + 4 1043 c.157G>T c.(157-159)Gat>Tat p.D53Y ZNF711_ENST00000373165.3_Missense_Mutation_p.D53Y|ZNF711_ENST00000276123.3_Missense_Mutation_p.D53Y|ZNF711_ENST00000395402.1_Missense_Mutation_p.D31Y Q9Y462 ZN711_HUMAN zinc finger protein 711 53 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding p.D33N(2)|p.D53N(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TTTAGTTTCTGATGTTGTCAC 0.413000 3 51 1 1 1 1 0 HDAC6 10013 broad.mit.edu 37 X 48673272 48673272 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:48673272G>A ENST00000334136.5 + 13 1209 c.1031G>A c.(1030-1032)gGa>gAa p.G344E HDAC6_ENST00000376619.2_Missense_Mutation_p.G344E|HDAC6_ENST00000444343.2_Missense_Mutation_p.G358E Q9UBN7 HDAC6_HUMAN histone deacetylase 6 344 Histone deacetylase 1. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) GTGGCTGCTGGATTTGATGCC 0.632000 11 21 0 0 1 0 0 POLDIP3 84271 broad.mit.edu 37 22 42981857 42981857 + Silent SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr22:42981857G>C ENST00000252115.5 - 9 1310 c.1206C>G c.(1204-1206)ctC>ctG p.L402L POLDIP3_ENST00000348657.2_Silent_p.L373L|POLDIP3_ENST00000451060.2_3'UTR|POLDIP3_ENST00000339677.6_Intron NM_032311.3 NP_115687.2 Q9BY77 PDIP3_HUMAN polymerase (DNA-directed), delta interacting protein 3 402 positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 16 AGGACTTGAAGAGTGCCTTCA 0.587000 5 74 0 0 1 0 0 SEMA3C 10512 broad.mit.edu 37 7 80418760 80418760 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:80418760G>C ENST00000265361.3 - 12 1777 c.1216C>G c.(1216-1218)Ctc>Gtc p.L406V SEMA3C_ENST00000544525.1_Missense_Mutation_p.L424V|SEMA3C_ENST00000419255.2_Missense_Mutation_p.L406V NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 406 Sema. immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TTGTACATGAGAGGATGGTTC 0.428000 3 60 0 0 1 0 0 STK24 8428 broad.mit.edu 37 13 99171544 99171544 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr13:99171544G>A ENST00000397517.2 - 2 302 c.226C>T c.(226-228)Cag>Tag p.Q76* STK24_ENST00000376547.3_Nonsense_Mutation_p.Q88*|STK24_ENST00000481288.1_5'UTR|STK24_ENST00000539966.1_Nonsense_Mutation_p.Q76* NM_001032296.2 NP_001027467.2 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 88 Protein kinase. cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CTGTCACACTGACTCAGCACT 0.428000 4 152 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27499827 27499827 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:27499827C>G ENST00000396271.3 - 9 1246 c.1120G>C c.(1120-1122)Gat>Cat p.D374H ACBD5_ENST00000375901.1_Missense_Mutation_p.D265H|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Missense_Mutation_p.D197H|ACBD5_ENST00000375888.1_Missense_Mutation_p.D383H|ACBD5_ENST00000375905.4_Missense_Mutation_p.D339H NM_001271512.1|NM_145698.3 NP_001258441.1|NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 383 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 TTCCTGCCATCTTCTCCTCCA 0.463000 74 104 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68130102 68130102 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:68130102G>A ENST00000262215.3 - 32 4917 c.4528C>T c.(4528-4530)Ctg>Ttg p.L1510L ARFGEF1_ENST00000520381.1_Silent_p.L964L|ARFGEF1_ENST00000518230.1_Silent_p.L348L NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1510 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TCACCATTCAGAATAACAACA 0.358000 17 78 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2152829 2152829 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:2152829G>A ENST00000262304.4 - 24 9142 c.8934C>T c.(8932-8934)ttC>ttT p.F2978F PKD1_ENST00000423118.1_Silent_p.F2978F NM_001009944.2 NP_001009944 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2978 Missing (in ADPKD1; could be a polymorphism). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GGGAAATGAAGAAGGTGTAGG 0.657000 29 16 0 0 1 0 0 TIGD2 166815 broad.mit.edu 37 4 90034402 90034402 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr4:90034402G>A ENST00000317005.2 + 1 435 c.277G>A c.(277-279)Gat>Aat p.D93N NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 93 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 14 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) ACAGAAAACAGATGGGATTCC 0.413000 20 63 0 0 1 0 0 SLU7 10569 broad.mit.edu 37 5 159833600 159833600 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:159833600C>T ENST00000297151.4 - 12 1549 c.1162G>A c.(1162-1164)Gaa>Aaa p.E388K NM_006425.4 NP_006416.3 O95391 SLU7_HUMAN SLU7 splicing factor homolog (S. cerevisiae) 388 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1) 20 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAAAGCAATTCAGCTGGAGGG 0.428000 11 59 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192273788 192273788 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:192273788G>A ENST00000392318.3 + 26 2897 c.2650G>A c.(2650-2652)Gaa>Aaa p.E884K MYO1B_ENST00000439065.2_Missense_Mutation_p.E129K|MYO1B_ENST00000304164.4_Missense_Mutation_p.E884K|MYO1B_ENST00000339514.4_Missense_Mutation_p.E826K|MYO1B_ENST00000392316.1_Missense_Mutation_p.E855K NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 884 myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) ATACTTCTTGGAAATGAAAAA 0.343000 12 41 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3328121 3328121 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:3328121G>T ENST00000378398.3 + 10 1445 c.1363G>T c.(1363-1365)Ggc>Tgc p.G455C PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Missense_Mutation_p.G454C|PRDM16_ENST00000378391.2_Missense_Mutation_p.G454C|PRDM16_ENST00000442529.2_Missense_Mutation_p.G454C|PRDM16_ENST00000511072.1_Missense_Mutation_p.G455C|PRDM16_ENST00000441472.2_Missense_Mutation_p.G454C|PRDM16_ENST00000514189.1_Missense_Mutation_p.G455C Q9HAZ2 PRD16_HUMAN PR domain containing 16 454 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TTACACGCCGGGCGGCATCTT 0.617000 T EVI1 """MDS, AML""" 18 34 2.35188e-11 2.49653e-11 1 1 0 TELO2 9894 broad.mit.edu 37 16 1547092 1547092 + Silent SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:1547092C>A ENST00000262319.6 + 4 948 c.669C>A c.(667-669)gtC>gtA p.V223V NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 223 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) AAGCCTGTGTCCACGGGAGGC 0.627000 4 28 0.00116845 0.00119146 1 1 0 DNASE1L2 1775 broad.mit.edu 37 16 2287904 2287904 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:2287904C>G ENST00000564065.1 + 5 1729 c.728C>G c.(727-729)tCa>tGa p.S243* DNASE1L2_ENST00000382437.4_Nonsense_Mutation_p.S222*|DNASE1L2_ENST00000567494.1_Nonsense_Mutation_p.S243*|DNASE1L2_ENST00000320700.5_Nonsense_Mutation_p.S243* Q92874 DNSL2_HUMAN deoxyribonuclease I-like 2 243 DNA catabolic process extracellular region calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding endometrium(1)|prostate(1)|skin(2) 4 GTGGGCAACTCAGACTGCGCC 0.667000 3 16 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27217715 27217715 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:27217715C>T ENST00000380036.4 + 19 3463 c.3021C>T c.(3019-3021)atC>atT p.I1007I TEK_ENST00000406359.4_Silent_p.I964I|TEK_ENST00000519097.1_Silent_p.I859I NM_000459.3 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 1007 Protein kinase. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) GGATGGCCATCGAGTCACTGA 0.463000 4 48 0 0 1 0 0 VN1R1 57191 broad.mit.edu 37 19 57967072 57967072 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:57967072G>A ENST00000596831.1 - 5 489 c.296C>T c.(295-297)tCt>tTt p.S99F AC004076.9_ENST00000415705.3_5'UTR|VN1R1_ENST00000321039.3_Silent_p.L261L GTCTGCAGGAGAGTCTGTTGC 0.473000 13 32 0 0 1 0 0 CCDC36 339834 broad.mit.edu 37 3 49249231 49249231 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:49249231G>C ENST00000438782.1 + 2 254 c.18G>C c.(16-18)tgG>tgC p.W6C CCDC36_ENST00000493870.1_Intron|CCDC36_ENST00000296449.5_Missense_Mutation_p.W6C|CCDC36_ENST00000366429.2_Missense_Mutation_p.W6C|CCDC36_ENST00000452691.2_Missense_Mutation_p.W6C Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 6 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) TTAATGTCTGGAATATCAAAG 0.338000 33 51 0 0 1 0 0 CENPV 201161 broad.mit.edu 37 17 16251981 16251981 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:16251981C>T ENST00000476243.1 - 3 1195 c.66G>A c.(64-66)aaG>aaA p.K22K CENPV_ENST00000299736.4_Silent_p.K176K|PIGL_ENST00000581006.1_Intron Q7Z7K6 CENPV_HUMAN centromere protein V 179 cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone carbon-sulfur lyase activity endometrium(1)|large_intestine(2) 3 TATTCTGCTTCTTCTTGCAAA 0.502000 17 77 0 0 1 0 0 C18orf8 29919 broad.mit.edu 37 18 21110004 21110004 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr18:21110004G>A ENST00000269221.3 + 17 1617 c.1507G>A c.(1507-1509)Gaa>Aaa p.E503K C18orf8_ENST00000590868.1_Missense_Mutation_p.E455K|C18orf8_ENST00000591367.1_3'UTR NM_013326.3 NP_037458.3 Q96DM3 MIC1_HUMAN chromosome 18 open reading frame 8 503 Mic1. endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 21 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) TTACCTACATGAACTTGTTAT 0.433000 81 367 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140123434 140123434 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:140123434G>A ENST00000458420.3 + 4 653 c.463G>A c.(463-465)Gag>Aag p.E155K NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 155 Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GGATGTCAACGAGTTTGCTCC 0.532000 HNSCC(16;0.037) 9 56 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64167069 64167069 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:64167069G>A ENST00000395391.1 + 4 1762 c.387G>A c.(385-387)gtG>gtA p.V129V ZNF107_ENST00000423627.1_Silent_p.V129V|ZNF107_ENST00000344930.3_Silent_p.V129V Q9UII5 ZN107_HUMAN zinc finger protein 107 129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) ATACTAGAGTGAATTCCTACA 0.348000 8 47 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038943 11038943 + RNA SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr21:11038943G>A ENST00000470054.1 - 0 1260 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TATGTCTGCTGATAATGAAAA 0.423000 17 453 0 0 1 0 0 PDE6A 5145 broad.mit.edu 37 5 149276282 149276282 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:149276282C>T ENST00000255266.5 - 11 1584 c.1465G>A c.(1465-1467)Gag>Aag p.E489K NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 489 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ACCAGGATCTCAGCCAGCTCC 0.527000 11 113 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135170580 135170580 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:135170580G>A ENST00000409645.1 + 13 1923 c.1671G>A c.(1669-1671)ctG>ctA p.L557L MGAT5_ENST00000281923.2_Silent_p.L557L Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 557 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) AGCCAACTCTGAGAGAGGTAA 0.363000 3 36 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139909042 139909042 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:139909042C>G ENST00000297183.6 + 29 6635 c.6511C>G c.(6511-6513)Caa>Gaa p.Q2171E ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.Q2171E|ANKHD1_ENST00000544120.1_Missense_Mutation_p.Q554E|ANKHD1_ENST00000360839.2_Missense_Mutation_p.Q2171E NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACACCACCTCAAGGCCCACC 0.443000 25 101 0 0 1 0 0 E4F1 1877 broad.mit.edu 37 16 2273626 2273626 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:2273626G>A ENST00000301727.4 + 1 60 c.12G>A c.(10-12)gcG>gcA p.A4A E4F1_ENST00000564139.1_Silent_p.A4A|E4F1_ENST00000565090.1_Silent_p.A4A NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 4 A -> E (in Ref. 1; AAD09139). cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 TGGAGGGCGCGATGGCAGTGC 0.697000 5 7 0 0 1 0 0 PROX2 283571 broad.mit.edu 37 14 75329888 75329888 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:75329888G>C ENST00000556084.2 - 1 649 c.650C>G c.(649-651)tCt>tGt p.S217C PROX2_ENST00000556489.2_Missense_Mutation_p.S217C|PROX2_ENST00000445876.1_Missense_Mutation_p.S217C NM_001080408.2 NP_001073877.2 Q3B8N5 PROX2_HUMAN prospero homeobox 2 217 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) TGGTGCTCCAGAAGGAAGGAA 0.542000 13 44 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53190528 53190528 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:53190528C>T ENST00000566029.1 + 2 736 c.527C>T c.(526-528)tCa>tTa p.S176L CHD9_ENST00000447540.1_Missense_Mutation_p.S176L|CHD9_ENST00000398510.3_Missense_Mutation_p.S176L|CHD9_ENST00000564845.1_Missense_Mutation_p.S176L Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 176 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) CAGTGTACTTCACTACGCTCA 0.383000 4 76 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64814001 64814001 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:64814001C>G ENST00000332707.5 + 7 1170 c.641C>G c.(640-642)tCt>tGt p.S214C NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 214 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding 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) GCTTATGTCTCTTGGATAGAC 0.333000 5 57 0 0 1 0 0 TMC1 117531 broad.mit.edu 37 9 75420351 75420351 + Silent SNP C C T rs145772877 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:75420351C>T ENST00000297784.5 + 18 2160 c.1620C>T c.(1618-1620)ctC>ctT p.L540L TMC1_ENST00000340019.3_Silent_p.L540L|TMC1_ENST00000396237.3_Silent_p.L540L|TMC1_ENST00000486417.1_3'UTR NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 540 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 TCACAATCCTCATTGGGGACT 0.393000 13 156 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 25 0 0 1 0 0 SEC22A 26984 broad.mit.edu 37 3 122928213 122928213 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:122928213G>A ENST00000309934.4 + 1 1045 c.149G>A c.(148-150)aGa>aAa p.R50K SEC22A_ENST00000481965.2_Missense_Mutation_p.R50K|SEC22A_ENST00000492595.1_Missense_Mutation_p.R50K|SEC22A_ENST00000477063.1_3'UTR NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) 50 Longin. ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane transporter activity NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) CTTCCTGATAGATGTACACTG 0.358000 16 58 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42796914 42796914 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:42796914C>T ENST00000572681.2 + 15 6164 c.6096C>T c.(6094-6096)acC>acT p.T2032T CIC_ENST00000160740.3_Silent_p.T1123T|CIC_ENST00000575354.2_Silent_p.T1124T Q96RK0 CIC_HUMAN capicua transcriptional repressor 1124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CTGTGGCCACCAGCACAACCC 0.662000 """Mis, F, S""" oligodendroglioma 20 22 0 0 1 0 0 C3orf62 375341 broad.mit.edu 37 3 49314082 49314082 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:49314082G>A ENST00000343010.3 - 1 1260 c.224C>T c.(223-225)tCt>tTt p.S75F NM_198562.2 NP_940964.1 Q6ZUJ4 CC062_HUMAN chromosome 3 open reading frame 62 75 breast(1)|kidney(1)|large_intestine(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGGAGCAGCAGAAGAGCAGGC 0.587000 22 67 0 0 1 0 0 UBA6 55236 broad.mit.edu 37 4 68490876 68490876 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr4:68490876C>G ENST00000322244.5 - 29 2607 c.2548G>C c.(2548-2550)Gaa>Caa p.E850Q NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 TCATCTTTTTCAAATGAAAGC 0.378000 13 72 0 0 1 0 0 MT4 84560 broad.mit.edu 37 16 56601680 56601680 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:56601680G>A ENST00000219162.3 + 2 129 c.49G>A c.(49-51)Gga>Aga p.G17R NM_032935.2 NP_116324 P47944 MT4_HUMAN metallothionein 4 17 cytoplasm copper ion binding|zinc ion binding ovary(1)|upper_aerodigestive_tract(1) 2 CTGCATGTGTGGAGACAACTG 0.498000 18 49 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28261290 28261290 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:28261290C>T ENST00000354638.3 - 8 1005 c.850G>A c.(850-852)Gag>Aag p.E284K OCA2_ENST00000382996.2_Missense_Mutation_p.E284K|OCA2_ENST00000353809.5_Missense_Mutation_p.E284K NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 284 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) ACTGAGTGCTCGCTTCTCCTC 0.507000 Oculocutaneous Albinism 9 117 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77400865 77400865 + Missense_Mutation SNP G G T rs13290391 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:77400865G>T ENST00000451710.3 - 21 3081 c.2844C>A c.(2842-2844)ttC>ttA p.F948L TRPM6_ENST00000361255.3_Missense_Mutation_p.F943L|TRPM6_ENST00000449912.2_Missense_Mutation_p.F943L|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.F948L|TRPM6_ENST00000376864.4_Missense_Mutation_p.F948L Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 948 F -> L (in dbSNP:rs13290391). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GTGAGAACCAGAATATGATGT 0.473000 14 150 3.27435e-08 3.4366e-08 1 1 0 WIPF2 147179 broad.mit.edu 37 17 38420952 38420952 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:38420952C>T ENST00000323571.4 + 5 764 c.524C>T c.(523-525)tCt>tTt p.S175F WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.S175F|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.S175F NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 175 cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 CACAGCTCCTCTGCCCCTCCC 0.647000 HNSCC(43;0.11) 7 53 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89154718 89154718 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:89154718G>C ENST00000554922.1 - 18 2887 c.2639C>G c.(2638-2640)tCt>tGt p.S880C EML5_ENST00000352093.5_Intron|EML5_ENST00000380664.5_Missense_Mutation_p.S880C NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 880 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GGATGTTCCAGAAAAAGCCAT 0.448000 43 155 0 0 1 0 0 SUGP1 57794 broad.mit.edu 37 19 19416845 19416845 + Silent SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:19416845G>C ENST00000247001.5 - 4 698 c.351C>G c.(349-351)ccC>ccG p.P117P SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Silent_p.P117P NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 117 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 CGCTGGGGGTGGGTGTGCTGG 0.687000 4 24 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42477309 42477309 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:42477309C>G ENST00000434000.1 - 9 2184 c.1902G>C c.(1900-1902)aaG>aaC p.K634N GPATCH8_ENST00000591680.1_Missense_Mutation_p.K712N Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 712 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GTTTTCGTTTCTTGCGCTTCT 0.478000 24 207 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11227586 11227586 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:11227586C>G ENST00000558518.1 + 12 1944 c.1757C>G c.(1756-1758)tCa>tGa p.S586* LDLR_ENST00000558013.1_Nonsense_Mutation_p.S586*|LDLR_ENST00000535915.1_Nonsense_Mutation_p.S545*|LDLR_ENST00000557933.1_Nonsense_Mutation_p.S586*|LDLR_ENST00000455727.2_Nonsense_Mutation_p.S418*|LDLR_ENST00000545707.1_Nonsense_Mutation_p.S459* NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 586 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CACTCCATCTCAAGCATCGAT 0.552000 30 130 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29293647 29293647 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:29293647C>T ENST00000331664.5 - 1 3480 c.3481G>A c.(3481-3483)Gaa>Aaa p.E1161K NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 1161 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TTCCAGCATTCTGCTGGGTTC 0.622000 20 18 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113724431 113724431 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr13:113724431C>T ENST00000397030.1 + 9 1076 c.1039C>T c.(1039-1041)Cag>Tag p.Q347* MCF2L_ENST00000375604.2_Nonsense_Mutation_p.Q371*|MCF2L_ENST00000423482.2_Nonsense_Mutation_p.Q312*|MCF2L_ENST00000375608.3_Nonsense_Mutation_p.Q344*|MCF2L_ENST00000421756.1_Nonsense_Mutation_p.Q318*|MCF2L_ENST00000375601.3_Nonsense_Mutation_p.Q318*|MCF2L_ENST00000434480.2_Nonsense_Mutation_p.Q320*|MCF2L_ENST00000375597.4_Nonsense_Mutation_p.Q312*|MCF2L_ENST00000535094.2_Nonsense_Mutation_p.Q314*|MCF2L_ENST00000442652.2_Nonsense_Mutation_p.Q344* O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 344 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) GGCAAAGCATCAGCAGAAACT 0.637000 41 35 0 0 1 0 0 FAM63A 55793 broad.mit.edu 37 1 150974656 150974656 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:150974656G>A ENST00000361936.5 - 3 1392 c.438C>T c.(436-438)ctC>ctT p.L146L FAM63A_ENST00000493834.2_Silent_p.L51L|FAM63A_ENST00000312210.5_Silent_p.L4L|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000361738.6_Silent_p.L194L NM_018379.4 NP_060849 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 146 protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ACTGAAGAAAGAGGATGTTCA 0.478000 34 73 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73661148 73661148 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:73661148G>A ENST00000420326.2 - 3 394 c.235C>T c.(235-237)Ctc>Ttc p.L79F RECQL5_ENST00000340830.5_Missense_Mutation_p.L79F|RECQL5_ENST00000317905.5_Missense_Mutation_p.L79F|RECQL5_ENST00000423245.2_Missense_Mutation_p.L52F|RECQL5_ENST00000584999.1_Missense_Mutation_p.L79F NM_001003715.3|NM_001003716.3 NP_001003715.1|NP_001003716.1 O94762 RECQ5_HUMAN RecQ protein-like 5 79 Helicase ATP-binding. DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) AAAGCAATGAGAGGAGAGACT 0.483000 Other identified genes with known or suspected DNA repair function 45 202 0 0 1 0 0 BDKRB2 624 broad.mit.edu 37 14 96706649 96706649 + Translation_Start_Site SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:96706649G>A ENST00000542454.2 + 0 2991 BDKRB2_ENST00000306005.3_Intron|BDKRB2_ENST00000554311.1_Intron|BDKRB2_ENST00000539359.1_Intron|RP11-404P21.8_ENST00000553811.1_Intron P30411 BKRB2_HUMAN bradykinin receptor B2 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) GCCCTGGCTGGTTGTCCTTAA 0.577000 6 121 0 0 1 0 0 NSUN6 221078 broad.mit.edu 37 10 18940110 18940110 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:18940110G>A ENST00000377304.4 - 1 441 c.23C>T c.(22-24)tCt>tTt p.S8F RP11-139J15.7_ENST00000606425.1_Intron NM_182543.2 NP_872349.1 Q8TEA1 NSUN6_HUMAN NOP2/Sun domain family, member 6 8 methyltransferase activity|RNA binding endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 AGGTCTCAAAGATATCTTAGG 0.318000 32 49 0 0 1 0 0 AHRR 57491 broad.mit.edu 37 5 353869 353869 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:353869G>C ENST00000316418.5 + 3 143 c.99G>C c.(97-99)aaG>aaC p.K33N AHRR_ENST00000505113.1_Missense_Mutation_p.K33N|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000515206.1_Missense_Mutation_p.K29N NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 33 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) GGGCAGAGAAGTCCAACCCCT 0.667000 8 45 0 0 1 0 0 MPI 4351 broad.mit.edu 37 15 75182428 75182428 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:75182428G>A ENST00000352410.4 + 1 81 c.14G>A c.(13-15)cGa>cAa p.R5Q MPI_ENST00000563422.1_Missense_Mutation_p.R5Q|MPI_ENST00000562606.1_5'UTR|MPI_ENST00000566377.1_Missense_Mutation_p.R5Q|MPI_ENST00000563786.1_5'UTR|MPI_ENST00000565576.1_Missense_Mutation_p.R5Q|MPI_ENST00000323744.6_Missense_Mutation_p.R5Q|MPI_ENST00000564003.1_5'UTR|MPI_ENST00000535694.1_5'UTR P34949 MPI_HUMAN mannose phosphate isomerase 5 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 GCCGCTCCGCGAGGTGAGCCA 0.657000 4 15 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73415138 73415138 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:73415138C>T ENST00000339362.5 + 4 1168 c.721C>T c.(721-723)Cca>Tca p.P241S NEO1_ENST00000560262.1_Missense_Mutation_p.P241S|NEO1_ENST00000558964.1_Missense_Mutation_p.P241S|NEO1_ENST00000261908.6_Missense_Mutation_p.P241S Q92859 NEO1_HUMAN neogenin 1 241 axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 GAAGGTTCTTCCAGGTATTAA 0.403000 17 60 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27450970 27450970 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:27450970C>G ENST00000295736.5 - 13 1861 c.1791G>C c.(1789-1791)ttG>ttC p.L597F SLC4A7_ENST00000440156.1_Missense_Mutation_p.L593F|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L473F|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L478F|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L593F|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L482F|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L589F|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L478F|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L147F|SLC4A7_ENST00000425128.2_Intron|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L606F NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 597 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 TGAAGTCACTCAAGAAAAAAG 0.428000 4 142 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16257320 16257320 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:16257320C>T ENST00000375759.3 + 11 4789 c.4585C>T c.(4585-4587)Cgt>Tgt p.R1529C NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1529 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GTTTGCTTCTCGTTTTTTACA 0.383000 3 38 0 0 1 0 0 CCDC155 147872 broad.mit.edu 37 19 49912476 49912476 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:49912476G>C ENST00000447857.3 + 14 1287 c.1082G>C c.(1081-1083)aGa>aCa p.R361T NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 361 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 GCCCAGCTGAGAAGAGTGGGC 0.627000 3 16 0 0 1 0 0 ZNF547 284306 broad.mit.edu 37 19 57889442 57889442 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:57889442C>T ENST00000282282.3 + 4 1248 c.1098C>T c.(1096-1098)caC>caT p.H366H AC003002.4_ENST00000597658.1_Intron NM_173631.2 NP_775902.2 Q8IVP9 ZN547_HUMAN zinc finger protein 547 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAAAGTCCCACCTCATTTGTC 0.453000 11 34 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30068864 30068864 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:30068864G>A ENST00000331968.5 - 14 2294 c.2065C>T c.(2065-2067)Cag>Tag p.Q689* PRKD1_ENST00000415220.2_Nonsense_Mutation_p.Q697* NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 689 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TTTCTTACCTGAGTAATTAAA 0.353000 39 41 0 0 1 0 0 HKR1 284459 broad.mit.edu 37 19 37853841 37853841 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:37853841G>A ENST00000591471.1 + 9 1966 c.325G>A c.(325-327)Gag>Aag p.E109K HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Missense_Mutation_p.E321K|HKR1_ENST00000392153.3_Missense_Mutation_p.E363K|HKR1_ENST00000544914.1_Missense_Mutation_p.E109K|HKR1_ENST00000589392.1_Missense_Mutation_p.E364K|HKR1_ENST00000324411.4_Missense_Mutation_p.E382K P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 382 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GCACACTGGGGAGAAGCCTTA 0.532000 4 91 0 0 1 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3648672 3648672 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:3648672C>T ENST00000335312.3 - 9 1250 c.1162G>A c.(1162-1164)Gag>Aag p.E388K PIP5K1C_ENST00000589578.1_Missense_Mutation_p.E388K|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.E388K|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.E388K NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 388 PIPK. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) AGCAGCCGCTCCCCGCGGCCG 0.687000 5 43 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53190497 53190497 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:53190497C>T ENST00000566029.1 + 2 705 c.496C>T c.(496-498)Cag>Tag p.Q166* CHD9_ENST00000447540.1_Nonsense_Mutation_p.Q166*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.Q166*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.Q166* Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 166 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TGCCTTATTTCAGGCCAATGA 0.378000 5 70 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71500733 71500733 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:71500733G>C ENST00000304743.2 + 18 4200 c.3754G>C c.(3754-3756)Gaa>Caa p.E1252Q PCNX_ENST00000238570.5_Missense_Mutation_p.E1252Q|PCNX_ENST00000439984.3_Missense_Mutation_p.E1141Q NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1252 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TCCACTGCCTGAAAAACTTAG 0.318000 16 35 0 0 1 0 0 CES2 8824 broad.mit.edu 37 16 66975728 66975728 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:66975728C>G ENST00000317091.4 + 8 2290 c.1306C>G c.(1306-1308)Ctg>Gtg p.L436V CES2_ENST00000417689.1_Missense_Mutation_p.L436V NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 372 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) CCAGGCTGCTCTGCAGAAAAT 0.562000 7 73 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954817 30954817 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:30954817G>A ENST00000376296.3 + 2 1106 c.865G>A c.(865-867)Gag>Aag p.E289K MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 289 28 X 15 AA approximate tandem repeats.|Ser-rich. E -> D (in dbSNP:rs41288665). integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 CACCAATTCTGAGTCCAGCAC 0.602000 51 195 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52703987 52703987 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:52703987C>G ENST00000287727.3 + 4 1070 c.898C>G c.(898-900)Cct>Gct p.P300A ZFYVE9_ENST00000357206.2_Missense_Mutation_p.P300A|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.P300A O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 300 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 AATCAGCTCTCCTAGGACAGA 0.453000 25 75 0 0 1 0 0 MFSD6 54842 broad.mit.edu 37 2 191353439 191353439 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:191353439C>T ENST00000392328.1 + 5 2011 c.1687C>T c.(1687-1689)Ccc>Tcc p.P563S MFSD6_ENST00000535751.1_Missense_Mutation_p.P25S|MFSD6_ENST00000281416.7_Missense_Mutation_p.P563S NM_017694.3 NP_060164.3 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 6 563 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1) 23 TGCAGCCGTTCCCCCTGAGCT 0.552000 16 27 0 0 1 0 0 EPN2 22905 broad.mit.edu 37 17 19215376 19215376 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:19215376C>T ENST00000314728.5 + 6 1375 c.891C>T c.(889-891)ctC>ctT p.L297L EPN2_ENST00000575595.1_Silent_p.L12L|EPN2_ENST00000571254.1_Silent_p.L240L|EPN2_ENST00000395626.1_Silent_p.L297L|EPN2_ENST00000395620.2_Silent_p.L240L|EPN2_ENST00000347697.2_Silent_p.L240L|EPN2_ENST00000395618.3_Silent_p.L12L NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 297 endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) AAGAACGCCTCAGGCGGGGTG 0.463000 30 65 0 0 1 0 0 HECTD2 143279 broad.mit.edu 37 10 93252163 93252163 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:93252163G>A ENST00000446394.1 + 14 1466 c.1366G>A c.(1366-1368)Gaa>Aaa p.E456K HECTD2_ENST00000371667.1_Missense_Mutation_p.E102K|HECTD2_ENST00000536715.1_Missense_Mutation_p.E41K|HECTD2_ENST00000298068.5_Missense_Mutation_p.E452K NM_001284274.1 NP_001271203.1 Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 452 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 ATTTGTAGGGGAAGCTGGTTT 0.343000 9 67 0 0 1 0 0 KIAA1524 57650 broad.mit.edu 37 3 108272523 108272523 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:108272523C>T ENST00000295746.8 - 19 2455 c.2379G>A c.(2377-2379)caG>caA p.Q793Q KIAA1524_ENST00000491772.1_Silent_p.Q634Q NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 793 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGTCTACTAGCTGATTCTGTA 0.279000 5 56 0 0 1 0 0 SLC27A3 11000 broad.mit.edu 37 1 153752320 153752320 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:153752320G>C ENST00000271857.2 + 10 3038 c.2278G>C c.(2278-2280)Gag>Cag p.E760Q SLC27A3_ENST00000368661.3_Missense_Mutation_p.E679Q|SLC27A3_ENST00000484014.1_3'UTR Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 679 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGCCACCACAGAGACCTTCAA 0.562000 3 34 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37000633 37000633 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:37000633G>A ENST00000282516.8 + 12 3962 c.3463G>A c.(3463-3465)Gac>Aac p.D1155N NIPBL_ENST00000448238.2_Missense_Mutation_p.D1155N NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1155 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GTCAGATTCTGACATGGAAGA 0.438000 6 107 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 4020372 4020372 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:4020372G>A ENST00000381638.2 - 3 712 c.588C>T c.(586-588)tcC>tcT p.S196S ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 196 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 TCACCGCGCTGGAGAGCCGAT 0.517000 10 112 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90152170 90152170 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:90152170G>A ENST00000268138.7 + 15 2964 c.2859G>A c.(2857-2859)aaG>aaA p.K953K KIF7_ENST00000558928.1_5'UTR|TICRR_ENST00000560985.1_Silent_p.K952K TOPBP1-interacting checkpoint and replication regulator ACAACTTCAAGAAGAACAAAG 0.398000 5 20 0 0 1 0 0 DCBLD2 131566 broad.mit.edu 37 3 98531196 98531196 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:98531196C>T ENST00000326840.6 - 10 1705 c.1343G>A c.(1342-1344)gGa>gAa p.G448E DCBLD2_ENST00000326857.9_Missense_Mutation_p.G448E NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 448 F5/8 type C. cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 AAACTGACATCCGAGCAGCTC 0.368000 11 97 0 0 1 0 0 THBS3 7059 broad.mit.edu 37 1 155165787 155165787 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:155165787G>A ENST00000368378.3 - 22 2823 c.2803C>T c.(2803-2805)Cga>Tga p.R935* THBS3_ENST00000541576.1_Nonsense_Mutation_p.R332*|THBS3_ENST00000457183.2_Nonsense_Mutation_p.R815*|THBS3_ENST00000541990.1_Nonsense_Mutation_p.R464* NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 935 TSP C-terminal. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCATTGCATCGATACTGGAGA 0.488000 74 54 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16375632 16375632 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:16375632G>A ENST00000375679.4 + 8 784 c.673G>A c.(673-675)Gag>Aag p.E225K CLCNKB_ENST00000375667.3_Missense_Mutation_p.E56K NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GTTCAGCATCGAGGTCATGTC 0.627000 14 67 0 0 1 0 0 SLFN5 162394 broad.mit.edu 37 17 33592613 33592613 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:33592613C>T ENST00000299977.4 + 5 2530 c.2382C>T c.(2380-2382)ttC>ttT p.F794F SLFN5_ENST00000542451.1_3'UTR NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 794 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) CTGTGCTTTTCACCAAAGCAA 0.408000 16 80 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48735442 48735442 + Splice_Site SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:48735442G>A ENST00000285238.8 + 5 566 c.e5-1 ABCC3_ENST00000427699.1_Splice_Site NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CTCCCACCCAGGGTGAGATCT 0.612000 7 101 0 0 1 0 0 FADS3 3995 broad.mit.edu 37 11 61645634 61645634 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:61645634G>A ENST00000540820.1 - 6 873 c.801C>T c.(799-801)ttC>ttT p.F267F FADS3_ENST00000525588.1_Silent_p.F239F|FADS3_ENST00000278829.2_Silent_p.F267F|FADS3_ENST00000527697.1_Silent_p.F143F Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 267 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CACTCAGGAAGAAGTACAGGT 0.607000 11 80 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38888929 38888929 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:38888929G>A ENST00000450244.1 - 26 4830 c.4632C>T c.(4630-4632)ctC>ctT p.L1544L SCN11A_ENST00000302328.3_Silent_p.L1544L|SCN11A_ENST00000456224.3_Silent_p.L1506L Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1544 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTATCTGGAAGAGACAGAGCA 0.468000 9 42 0 0 1 0 0 MFSD6L 162387 broad.mit.edu 37 17 8701203 8701203 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:8701203C>T ENST00000329805.4 - 1 1464 c.1236G>A c.(1234-1236)ctG>ctA p.L412L NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 412 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 GAATTTCCCCCAGCAAGCTGA 0.587000 57 78 0 0 1 0 0 CCNJL 79616 broad.mit.edu 37 5 159680685 159680685 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:159680685G>A ENST00000393977.3 - 7 1293 c.1008C>T c.(1006-1008)ctC>ctT p.L336L CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.L288L NM_024565.5 NP_078841.3 Q8IV13 CCNJL_HUMAN cyclin J-like 336 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGGCTGGCCGAGGGCCGGGT 0.672000 9 21 0 0 1 0 0 KY 339855 broad.mit.edu 37 3 134322838 134322838 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:134322838C>T ENST00000508956.1 - 10 1563 c.1506G>A c.(1504-1506)ctG>ctA p.L502L KY_ENST00000423778.2_Silent_p.L523L|KY_ENST00000503669.1_3'UTR Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 523 cytoskeleton|Z disc peptidase activity p.L523L(4) central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 GCTGGACTTTCAGCTCGGTCT 0.527000 23 40 0 0 1 0 0 NCAPD2 9918 broad.mit.edu 37 12 6637893 6637893 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:6637893G>T ENST00000315579.5 + 26 4147 c.3348G>T c.(3346-3348)atG>atT p.M1116I NCAPD2_ENST00000545962.1_Missense_Mutation_p.M1071I NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1116 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 GGCTGGTGATGACCCACCTGA 0.617000 21 35 7.41877e-09 7.8216e-09 1 1 0 PPP1R15B 84919 broad.mit.edu 37 1 204379683 204379683 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:204379683G>A ENST00000367188.4 - 1 1236 c.857C>T c.(856-858)tCt>tTt p.S286F RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 286 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) GCCTTCCGTAGAAAGAGGTGG 0.547000 25 88 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130282006 130282006 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:130282006G>C ENST00000358511.6 + 2 190 c.159G>C c.(157-159)atG>atC p.M53I COL6A6_ENST00000453409.2_Missense_Mutation_p.M53I NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 53 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TCACCAAAATGATCAGCAGTC 0.493000 50 93 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37020681 37020681 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:37020681G>C ENST00000282516.8 + 26 5630 c.5131G>C c.(5131-5133)Gag>Cag p.E1711Q NIPBL_ENST00000448238.2_Missense_Mutation_p.E1711Q NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1711 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AAAGGAAATTGAGACAACTGG 0.373000 17 101 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20586586 20586586 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:20586586G>C ENST00000315543.4 + 1 1021 c.1021G>C c.(1021-1023)Gaa>Caa p.E341Q NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GAATTCTAGAGAAGATACTTA 0.408000 5 41 0 0 1 0 0 HIST2H2BE 8349 broad.mit.edu 37 1 149858166 149858166 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:149858166G>C ENST00000369155.2 - 1 66 c.25C>G c.(25-27)Ccg>Gcg p.P9A NM_003528.2 NP_003519.1 Q16778 H2B2E_HUMAN histone cluster 2, H2be 9 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 14 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TTAGGGGCCGGAGCGGATTTT 0.517000 13 63 0 0 1 0 0 LRCH3 84859 broad.mit.edu 37 3 197562607 197562607 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:197562607G>A ENST00000438796.2 + 9 1209 c.1165G>A c.(1165-1167)Gag>Aag p.E389K LRCH3_ENST00000441090.2_Missense_Mutation_p.E263K|LRCH3_ENST00000414675.2_Missense_Mutation_p.E389K|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000425562.2_Missense_Mutation_p.E389K|LRCH3_ENST00000334859.4_Missense_Mutation_p.E389K Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 389 Poly-Glu. extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) AGAGGAGGCCGAGGTGAGACA 0.502000 8 112 0 0 1 0 0 OR52D1 390066 broad.mit.edu 37 11 5510200 5510200 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:5510200G>C ENST00000322641.5 + 1 286 c.264G>C c.(262-264)ttG>ttC p.L88F HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGCCATTTTGTGGCTCCATG 0.498000 27 27 0 0 1 0 0 RNF44 22838 broad.mit.edu 37 5 175956764 175956764 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:175956764C>G ENST00000274811.4 - 8 1506 c.982G>C c.(982-984)Gac>Cac p.D328H RNF44_ENST00000537487.1_Missense_Mutation_p.D247H NM_014901.4 NP_055716.1 Q7L0R7 RNF44_HUMAN ring finger protein 44 328 zinc ion binding endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCATCCACGTCCAGGTCCAGG 0.622000 5 4 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98592261 98592261 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:98592261G>C ENST00000359863.4 + 66 10266 c.10057G>C c.(10057-10059)Gag>Cag p.E3353Q TRRAP_ENST00000446306.3_Missense_Mutation_p.E3342Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.E3324Q NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3353 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CGTGGCGTTTGAGAAAAGTGG 0.527000 82 138 0 0 1 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056141 26056141 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:26056141C>G ENST00000343677.2 - 1 558 c.516G>C c.(514-516)aaG>aaC p.K172N NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 172 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 TCTTTGGGCTCTTAGCCACTT 0.562000 31 161 0 0 1 0 0 FDXR 2232 broad.mit.edu 37 17 72861003 72861003 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:72861003C>T ENST00000455107.2 - 8 944 c.528G>A c.(526-528)gtG>gtA p.V176V FDXR_ENST00000442102.2_Silent_p.V263V|FDXR_ENST00000544854.1_Silent_p.V168V|FDXR_ENST00000413947.2_Silent_p.V251V|FDXR_ENST00000581530.1_Silent_p.V226V|FDXR_ENST00000293195.5_Silent_p.V220V|FDXR_ENST00000583917.1_Silent_p.V221V|FDXR_ENST00000582944.1_Silent_p.V212V|FDXR_ENST00000420580.2_Silent_p.V180V P22570 ADRO_HUMAN ferredoxin reductase 220 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) ACACTGTCTTCACTCGACTCT 0.607000 OREG0024720 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 43 0 0 1 0 0 GATAD2B 57459 broad.mit.edu 37 1 153792177 153792177 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:153792177C>G ENST00000368655.4 - 3 613 c.370G>C c.(370-372)Gac>Cac p.D124H NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 124 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACAATGATGTCTGGTGAGGGA 0.408000 6 120 0 0 1 0 0 KDM1B 221656 broad.mit.edu 37 6 18212790 18212790 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:18212790G>C ENST00000388870.2 + 18 2182 c.1941G>C c.(1939-1941)aaG>aaC p.K647N KDM1B_ENST00000297792.5_Missense_Mutation_p.K414N|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Missense_Mutation_p.K415N Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 646 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 TGTCAGAGAAGAAGATGAAGG 0.398000 39 118 0 0 1 0 0 WDR48 57599 broad.mit.edu 37 3 39126135 39126135 + Splice_Site SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:39126135G>A ENST00000302313.5 + 13 1309 c.e13-1 WDR48_ENST00000418020.1_Splice_Site|WDR48_ENST00000396258.3_Splice_Site|WDR48_ENST00000544962.1_Splice_Site NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TCTTTTGATAGATGTTAACTA 0.363000 11 44 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113106018 113106018 + Splice_Site SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:113106018G>A ENST00000401611.2 + 15 1824 c.1824G>A c.(1822-1824)caG>caA p.Q608Q NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000533760.1_Intron|NCAM1_ENST00000397957.4_Intron P13591 NCAM1_HUMAN neural cell adhesion molecule 1 609 Fibronectin type-III 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) TGCTCCTGGAGGCCCCACCTC 0.557000 20 52 0 0 1 0 0 SELO 83642 broad.mit.edu 37 22 50655762 50655762 + Silent SNP C C T rs1052827 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr22:50655762C>T ENST00000380903.2 + 9 2032 c.1974C>T c.(1972-1974)ctC>ctT p.L658L SELO_ENST00000492092.1_3'UTR NM_031454.1 NP_113642.1 Q9BVL4 SELO_HUMAN all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) AGCCCCCGCTCTGGGCAGCAG 0.687000 16 18 0 0 1 0 0 LRPPRC 10128 broad.mit.edu 37 2 44202259 44202259 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:44202259C>G ENST00000260665.7 - 7 892 c.835G>C c.(835-837)Gag>Cag p.E279Q LRPPRC_ENST00000409946.1_Missense_Mutation_p.E279Q|LRPPRC_ENST00000409659.1_Missense_Mutation_p.E279Q NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 279 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TCGCCCTTCTCAGCATATGCA 0.373000 3 82 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166678 19166678 + Missense_Mutation SNP G G C rs149257858 byFrequency TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:19166678G>C ENST00000375371.3 - 6 1956 c.1935C>G c.(1933-1935)atC>atG p.I645M NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 645 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CGATACAGGAGATGCAGATTG 0.632000 36 50 0 0 1 0 0 SLU7 10569 broad.mit.edu 37 5 159834611 159834611 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:159834611C>T ENST00000297151.4 - 11 1384 c.997G>A c.(997-999)Gaa>Aaa p.E333K NM_006425.4 NP_006416.3 O95391 SLU7_HUMAN SLU7 splicing factor homolog (S. cerevisiae) 333 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1) 20 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCATAGGCTTCCCATGCAAAC 0.383000 9 61 0 0 1 0 0 ZNF142 7701 broad.mit.edu 37 2 219506891 219506891 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:219506891G>A ENST00000411696.2 - 7 5127 c.4348C>T c.(4348-4350)Cgt>Tgt p.R1450C ZNF142_ENST00000449707.1_Missense_Mutation_p.R1450C P52746 ZN142_HUMAN zinc finger protein 142 1450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TTGTAGAGACGAGTGCCCCCA 0.562000 26 63 0 0 1 0 0 PGM2L1 283209 broad.mit.edu 37 11 74047747 74047747 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:74047747C>G ENST00000298198.4 - 14 2130 c.1819G>C c.(1819-1821)Gag>Cag p.E607Q NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 607 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) AGAAAATTCTCTATCAGAGCA 0.398000 10 49 0 0 1 0 0 STK19 8859 broad.mit.edu 37 6 31940508 31940508 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:31940508G>C ENST00000375331.2 + 3 707 c.541G>C c.(541-543)Gac>Cac p.D181H STK19_ENST00000463823.1_Intron|STK19_ENST00000375333.2_Missense_Mutation_p.D181H NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 181 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CCTTGTGCCTGACAGGACCGT 0.652000 23 45 0 0 1 0 0 CCNL2 81669 broad.mit.edu 37 1 1333715 1333715 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:1333715G>T ENST00000400809.3 - 3 376 c.371C>A c.(370-372)tCa>tAa p.S124* CCNL2_ENST00000408918.4_Nonsense_Mutation_p.S124* NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 124 Cyclin-like 1. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) ACAGGCCATTGACACATGCTG 0.557000 12 62 9.31168e-06 9.60009e-06 1 1 0 AUTS2 26053 broad.mit.edu 37 7 70228182 70228182 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:70228182C>A ENST00000342771.4 + 7 1390 c.1069C>A c.(1069-1071)Cag>Aag p.Q357K AUTS2_ENST00000406775.2_Missense_Mutation_p.Q357K NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 357 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CCCGCAGCCTCAGGTGCAGAG 0.687000 10 55 0.00829132 0.00838125 1 1 0 FAM219B 57184 broad.mit.edu 37 15 75197033 75197033 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:75197033C>T ENST00000357635.5 - 4 721 c.401G>A c.(400-402)aGa>aAa p.R134K FAM219B_ENST00000563119.1_Missense_Mutation_p.R134K|FAM219B_ENST00000565772.1_Missense_Mutation_p.R48K|FAM219B_ENST00000563706.1_5'UTR NM_020447.3 NP_065180.1 Q5XKK7 CO017_HUMAN family with sequence similarity 219, member B 134 cytochrome-c oxidase activity GGAGGAGTATCTGGATCCCAG 0.537000 7 114 0 0 1 0 0 TEF 7008 broad.mit.edu 37 22 41783604 41783604 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr22:41783604C>G ENST00000266304.4 + 2 523 c.407C>G c.(406-408)tCt>tGt p.S136C TEF_ENST00000406644.3_Missense_Mutation_p.S106C NM_003216.3 NP_003207.1 Q10587 TEF_HUMAN thyrotrophic embryonic factor 136 rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 TCTGCCAGCTCTTCCACAGCA 0.612000 6 33 0 0 1 0 0 CREBZF 58487 broad.mit.edu 37 11 85375175 85375175 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:85375175C>T ENST00000527447.1 - 1 971 c.745G>A c.(745-747)Gag>Aag p.E249K CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.E167K NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 249 Leucine-zipper. negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) TCCCGATTCTCGGCCCGCAGC 0.627000 OREG0021274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 174 0 0 1 0 0 HTR2B 3357 broad.mit.edu 37 2 231974050 231974050 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:231974050C>T ENST00000258400.3 - 4 1139 c.627G>A c.(625-627)ctG>ctA p.L209L PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron NM_000867.4 NP_000858.3 P41595 5HT2B_HUMAN 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled 209 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction cytoplasm|integral to membrane|plasma membrane calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 11 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141) Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508) GTTCCTTTGTCAGCACACAAG 0.423000 14 25 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606023 84606023 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:84606023C>T ENST00000344803.2 + 4 685 c.638C>T c.(637-639)tCa>tTa p.S213L NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GACTTATTTTCACCCTCACCA 0.552000 6 121 0 0 1 0 0 RECQL 5965 broad.mit.edu 37 12 21624538 21624538 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:21624538G>C ENST00000444129.2 - 13 1959 c.1491C>G c.(1489-1491)atC>atG p.I497M RECQL_ENST00000421138.2_Missense_Mutation_p.I497M NM_002907.3|NM_032941.2 NP_002898.2|NP_116559.1 P46063 RECQ1_HUMAN RecQ protein-like (DNA helicase Q1-like) 497 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 TCAGGATCTTGATTAGATCTC 0.383000 Other identified genes with known or suspected DNA repair function 10 71 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151497155 151497155 + Silent SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:151497155G>C ENST00000271636.7 + 8 1540 c.1407G>C c.(1405-1407)ctG>ctC p.L469L NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 463 Glu-rich. 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) TCCAGGACCTGTTAGAGACCC 0.483000 3 12 0 0 1 0 0 CCNE1 898 broad.mit.edu 37 19 30312972 30312972 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:30312972C>G ENST00000262643.3 + 9 1054 c.775C>G c.(775-777)Cta>Gta p.L259V CCNE1_ENST00000357943.5_Missense_Mutation_p.L216V|CCNE1_ENST00000444983.2_Missense_Mutation_p.L244V NM_001238.2 NP_001229.1 P24864 CCNE1_HUMAN cyclin E1 259 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1) 20 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) GGTTGCATATCTAAATGACTT 0.468000 A serous ovarian 36 86 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102508033 102508033 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:102508033G>A ENST00000360184.4 + 65 12228 c.12064G>A c.(12064-12066)Gag>Aag p.E4022K RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 4022 AAA 6 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GTCCATCATGGAGCAGCCGCT 0.602000 14 81 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54259392 54259392 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:54259392C>T ENST00000354646.2 - 21 5128 c.4690G>A c.(4690-4692)Gaa>Aaa p.E1564K WNK3_ENST00000375159.2_Missense_Mutation_p.E1564K|WNK3_ENST00000375169.3_Missense_Mutation_p.E1517K NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1517 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 CGAAGGCGTTCATAGAGCTCC 0.428000 23 37 0 0 1 0 0 FGF12 2257 broad.mit.edu 37 3 191888297 191888297 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:191888297C>G ENST00000445105.2 - 5 622 c.377G>C c.(376-378)aGa>aCa p.R126T FGF12_ENST00000430714.1_Missense_Mutation_p.R89T|FGF12_ENST00000454309.2_Missense_Mutation_p.R188T|FGF12_ENST00000450716.1_Missense_Mutation_p.R126T|FGF12_ENST00000264730.3_Missense_Mutation_p.R126T NM_004113.5 NP_004104.3 P61328 FGF12_HUMAN fibroblast growth factor 12 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TTTCTTCACTCTGTTCCCCTT 0.428000 63 108 0 0 1 0 0 BICC1 80114 broad.mit.edu 37 10 60549193 60549193 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:60549193C>T ENST00000373886.3 + 7 776 c.772C>T c.(772-774)Cag>Tag p.Q258* NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 258 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 ACGAGGGTCTCAGAATAACAC 0.343000 11 58 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170201144 170201144 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:170201144C>T ENST00000231706.5 - 6 1389 c.1074G>A c.(1072-1074)ccG>ccA p.P358P CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) AAATGACCCTCGGCATCGGGA 0.537000 OREG0015917 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 75 0 0 1 0 0 C8orf33 65265 broad.mit.edu 37 8 146279446 146279446 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:146279446G>C ENST00000331434.6 + 5 707 c.593G>C c.(592-594)aGa>aCa p.R198T NM_023080.2 NP_075568.1 Q9H7E9 CH033_HUMAN chromosome 8 open reading frame 33 198 endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.243) GGAGCCACCAGAAAGAAGAGC 0.473000 35 170 0 0 1 0 0 EN1 2019 broad.mit.edu 37 2 119604286 119604286 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:119604286C>G ENST00000295206.6 - 1 968 c.458G>C c.(457-459)aGa>aCa p.R153T NM_001426.3 NP_001417.3 Q05925 HME1_HUMAN engrailed homeobox 1 153 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 GACAGGGTCTCTACCTGCGGC 0.741000 3 15 0 0 1 0 0 GCC1 79571 broad.mit.edu 37 7 127222778 127222778 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:127222778C>T ENST00000321407.2 - 2 2042 c.1618G>A c.(1618-1620)Gag>Aag p.E540K NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 540 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TGCTCCAGCTCCTCGCAGGAG 0.607000 12 69 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121216077 121216077 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:121216077C>G ENST00000297848.3 + 9 1277 c.1007C>G c.(1006-1008)tCt>tGt p.S336C COL14A1_ENST00000247781.3_Missense_Mutation_p.S241C|COL14A1_ENST00000537875.1_Missense_Mutation_p.S336C|COL14A1_ENST00000309791.4_Missense_Mutation_p.S336C|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 336 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) ACTCTCTGCTCTAGAGTGGAA 0.468000 17 16 0 0 1 0 0 ZNF274 10782 broad.mit.edu 37 19 58718508 58718508 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:58718508G>A ENST00000326804.4 + 6 1135 c.676G>A c.(676-678)Gag>Aag p.E226K ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.E194K|ZNF274_ENST00000424679.2_Missense_Mutation_p.E121K NM_001278734.1|NM_133502.1 NP_001265663.1|NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 227 SCAN box. viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) GCAGCACCCAGAGAACTGCCA 0.587000 4 16 0 0 1 0 0 FAM204A 63877 broad.mit.edu 37 10 120085695 120085695 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:120085695C>T ENST00000369183.4 - 7 773 c.514G>A c.(514-516)Gaa>Aaa p.E172K FAM204A_ENST00000369172.4_Missense_Mutation_p.E172K|FAM204A_ENST00000469758.1_5'UTR NM_022063.2 NP_071346.1 Q9H8W3 F204A_HUMAN family with sequence similarity 204, member A 172 kidney(1)|large_intestine(5)|lung(4)|ovary(1) 11 TTGCTGAGTTCCTCAGCCTTC 0.378000 4 33 0 0 1 0 0 LRRC16B 90668 broad.mit.edu 37 14 24529269 24529269 + Silent SNP G G A rs61732659 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:24529269G>A ENST00000342740.5 + 23 2113 c.1959G>A c.(1957-1959)caG>caA p.Q653Q LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 653 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) ACGTCTGGCAGAAGGTGCAGG 0.652000 30 54 0 0 1 0 0 NFKB2 4791 broad.mit.edu 37 10 104157101 104157101 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:104157101G>C ENST00000369966.3 + 7 688 c.438G>C c.(436-438)atG>atC p.M146I NFKB2_ENST00000428099.1_Missense_Mutation_p.M146I|NFKB2_ENST00000189444.6_Missense_Mutation_p.M146I NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 146 RHD. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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 Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) AGAAGAACATGATGGGGACTA 0.542000 T IGH@ B-NHL 14 31 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298163 107298163 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:107298163G>C ENST00000374781.2 - 1 974 c.932C>G c.(931-933)tCt>tGt p.S311C NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 ATAAAACAGAGAAATGAGCTT 0.368000 4 73 0 0 1 0 0 COX10 1352 broad.mit.edu 37 17 14095375 14095375 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:14095375G>A ENST00000261643.3 + 6 842 c.765G>A c.(763-765)gtG>gtA p.V255V COX10_ENST00000537334.1_Silent_p.V38V|COX10_ENST00000536205.1_Silent_p.V63V NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 255 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) CCTTGGGGGTGAATCCACTCA 0.522000 34 56 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52520371 52520371 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:52520371G>A ENST00000216286.5 - 5 1354 c.1355C>T c.(1354-1356)tCa>tTa p.S452L NID2_ENST00000541773.1_Missense_Mutation_p.S399L NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 452 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) AGTGTGACCTGAAGCAGGGTA 0.517000 9 90 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119929319 119929319 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:119929319G>A ENST00000361035.4 + 6 958 c.675G>A c.(673-675)caG>caA p.Q225Q HAO2_ENST00000325945.3_Silent_p.Q212Q Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 212 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) CCTGGTTTCAGAGCATAACTC 0.423000 7 91 0 0 1 0 0 AOC2 314 broad.mit.edu 37 17 40997901 40997901 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:40997901C>T ENST00000253799.3 + 1 1285 c.1258C>T c.(1258-1260)Cca>Tca p.P420S AOC2_ENST00000452774.2_Missense_Mutation_p.P420S NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 420 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) CCAGCTGCTTCCAGGGGCTGT 0.552000 11 39 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55378128 55378128 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:55378128G>T ENST00000326321.3 + 9 1343 c.1310G>T c.(1309-1311)aGa>aTa p.R437I KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R437I|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R420I NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 437 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GCTGAGCCCAGATCCAAAGTT 0.517000 39 187 7.13841e-38 7.74505e-38 1 1 0 ZNF556 80032 broad.mit.edu 37 19 2876272 2876272 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:2876272G>C ENST00000586426.1 + 3 399 c.312G>C c.(310-312)ttG>ttC p.L104F ZNF556_ENST00000307635.2_Missense_Mutation_p.L104F Q9HAH1 ZN556_HUMAN zinc finger protein 556 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) AGAGACATTTGAGGTGAGTTG 0.468000 44 68 0 0 1 0 0 HIST1H2AL 8332 broad.mit.edu 37 6 27833256 27833256 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:27833256G>A ENST00000357320.2 + 1 223 c.124G>A c.(124-126)Gag>Aag p.E42K NM_003511.2 NP_003502.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2al 42 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2) 9 CAACTATGCTGAGCGGGTCGG 0.687000 23 83 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35094350 35094350 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:35094350C>T ENST00000378617.3 - 3 912 c.518G>A c.(517-519)cGt>cAt p.R173H PIGO_ENST00000341666.3_Missense_Mutation_p.R173H|PIGO_ENST00000361778.2_Missense_Mutation_p.R173H|PIGO_ENST00000298004.5_Missense_Mutation_p.R173H NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 173 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GAAGACTACACGCCTTCCTGC 0.478000 10 42 0 0 1 0 0 PEMT 10400 broad.mit.edu 37 17 17480267 17480267 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:17480267G>A ENST00000395781.2 - 2 252 c.171C>T c.(169-171)atC>atT p.I57I PEMT_ENST00000255389.5_Silent_p.I57I|PEMT_ENST00000395782.1_Silent_p.I20I|PEMT_ENST00000395783.1_Silent_p.I20I|PEMT_ENST00000435340.2_Silent_p.I35I NM_001267552.1 NP_001254481.1 Q9UBM1 PEMT_HUMAN phosphatidylethanolamine N-methyltransferase 20 cell proliferation|phosphatidylcholine biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane phosphatidylethanolamine N-methyltransferase activity endometrium(1)|kidney(1)|large_intestine(2)|prostate(3) 7 Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891) AGGTGATGGTGATGACGGCAG 0.577000 13 55 0 0 1 0 0 SRRT 51593 broad.mit.edu 37 7 100484426 100484426 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:100484426C>T ENST00000388793.4 + 14 1875 c.1655C>T c.(1654-1656)tCg>tTg p.S552L SRRT_ENST00000457580.2_Missense_Mutation_p.S553L|SRRT_ENST00000432932.1_Missense_Mutation_p.S552L|SRRT_ENST00000347433.4_Missense_Mutation_p.S553L NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 553 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 AGCCTGCCCTCGCAAAACCCG 0.567000 9 27 0 0 1 0 0 FUBP3 8939 broad.mit.edu 37 9 133499074 133499074 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:133499074C>T ENST00000319725.9 + 11 1026 c.951C>T c.(949-951)atC>atT p.I317I NM_003934.1 NP_003925.1 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 317 KH 3. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2) 21 OV - Ovarian serous cystadenocarcinoma(145;0.000279) CGCATATCATCAGCGAGCTGA 0.582000 21 39 0 0 1 0 0 CTAGE5 4253 broad.mit.edu 37 14 39748683 39748683 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:39748683C>G ENST00000553728.1 + 8 2066 c.1853C>G c.(1852-1854)tCt>tGt p.S618C CTAGE5_ENST00000557038.1_Missense_Mutation_p.S3C|CTAGE5_ENST00000341749.3_Missense_Mutation_p.S71C|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.S54C|CTAGE5_ENST00000556148.1_Missense_Mutation_p.S3C|CTAGE5_ENST00000553352.1_Missense_Mutation_p.S54C|CTAGE5_ENST00000396158.2_Missense_Mutation_p.S83C|CTAGE5_ENST00000280083.3_Missense_Mutation_p.S83C|CTAGE5_ENST00000348007.3_Missense_Mutation_p.S83C|CTAGE5_ENST00000396165.4_Missense_Mutation_p.S54C|CTAGE5_ENST00000341502.5_Missense_Mutation_p.S83C CTAATGCTTTCTGGACTAATT 0.284000 22 29 0 0 1 0 0 AK8 158067 broad.mit.edu 37 9 135698611 135698611 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:135698611C>G ENST00000298545.3 - 9 1391 c.870G>C c.(868-870)caG>caC p.Q290H AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 290 Adenylate kinase. cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 GCCTGTATTTCTGGGCCAGGA 0.612000 4 70 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855769 12855769 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:12855769C>T ENST00000332296.7 + 4 1152 c.1049C>T c.(1048-1050)tCt>tTt p.S350F PRAMEF1_ENST00000400814.3_Missense_Mutation_p.S105F NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 350 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATTGCTGCCTCTCTCAAAACC 0.557000 57 120 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196698976 196698976 + Silent SNP A A G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:196698976A>G ENST00000312428.6 - 48 9154 c.9054T>C c.(9052-9054)ccT>ccC p.P3018P NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3018 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TGACATAGTCAGGTTCACTAA 0.398000 23 28 0 0 1 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58846304 58846304 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:58846304G>A ENST00000329665.4 + 2 283 c.136G>A c.(136-138)Gag>Aag p.E46K NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 46 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) TGCTCACTCTGAGGCTGCACG 0.622000 6 37 0 0 1 0 0 NARFL 64428 broad.mit.edu 37 16 787258 787258 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:787258G>A ENST00000251588.2 - 3 250 c.234C>T c.(232-234)atC>atT p.I78I NARFL_ENST00000301694.5_Silent_p.I78I|NARFL_ENST00000568545.1_5'UTR|NARFL_ENST00000540986.1_5'UTR NM_022493.1 NP_071938.1 Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 78 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) CTGCGGAGGTGATGCAGCCGC 0.607000 9 77 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119109392 119109392 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:119109392C>T ENST00000328252.3 + 15 4237 c.3868C>T c.(3868-3870)Cac>Tac p.H1290Y PAPPA_ENST00000534838.1_Missense_Mutation_p.H328Y NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1290 Sushi 2. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CATCCCAGATCACCATCAAGT 0.557000 4 34 0 0 1 0 0 CYB5D2 124936 broad.mit.edu 37 17 4047155 4047155 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:4047155C>T ENST00000301391.3 + 1 606 c.106C>T c.(106-108)Cgc>Tgc p.R36C CYB5D2_ENST00000575251.1_Intron|CYB5D2_ENST00000573984.1_Intron NM_144611.3 NP_653212.1 Q8WUJ1 NEUFC_HUMAN cytochrome b5 domain containing 2 36 Cytochrome b5 heme-binding. nervous system development extracellular region heme binding breast(1)|large_intestine(3)|liver(2)|ovary(1) 7 CGCTGGCTTTCGCCTTTTCAT 0.672000 12 37 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30727752 30727752 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:30727752C>T ENST00000262518.4 + 18 3154 c.2769C>T c.(2767-2769)ttC>ttT p.F923F SRCAP_ENST00000344771.4_Silent_p.F923F|SRCAP_ENST00000395059.2_Silent_p.F923F NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 923 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCATCTGCTTCAGCACCGCCT 0.473000 86 191 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27506991 27506991 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:27506991C>T ENST00000396271.3 - 7 873 c.747G>A c.(745-747)ctG>ctA p.L249L ACBD5_ENST00000375901.1_Silent_p.L140L|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000375888.1_Silent_p.L258L|ACBD5_ENST00000375905.4_Silent_p.L214L NM_001271512.1|NM_145698.3 NP_001258441.1|NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 258 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 TTCTGCCATTCAGGGAAGAAC 0.403000 34 80 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579485 7579485 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:7579485C>A ENST00000420246.2 - 4 334 c.202G>T c.(202-204)Gag>Tag p.E68* TP53_ENST00000269305.4_Nonsense_Mutation_p.E68*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 68 Interaction with HRMT1L2.|Interaction with WWOX. E -> G (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(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) GGAGCAGCCTCTGGCATTCTG 0.607000 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) 86 114 4.85238e-36 5.25863e-36 1 1 0 FAT4 79633 broad.mit.edu 37 4 126238227 126238227 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr4:126238227G>C ENST00000394329.3 + 1 674 c.661G>C c.(661-663)Gag>Cag p.E221Q NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 221 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GCTCCTGGTTGAGGTGGAGGA 0.592000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 15 0 0 1 0 0 ZNF436 80818 broad.mit.edu 37 1 23689604 23689604 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:23689604C>G ENST00000314011.4 - 4 407 c.271G>C c.(271-273)Gaa>Caa p.E91Q ZNF436_ENST00000374608.3_Missense_Mutation_p.E91Q NM_001077195.1 NP_001070663.1 Q9C0F3 ZN436_HUMAN zinc finger protein 436 91 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) TCTTCACTTTCAGGATTTTCC 0.448000 24 102 0 0 1 0 0 APCDD1 147495 broad.mit.edu 37 18 10471990 10471990 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr18:10471990C>G ENST00000355285.5 + 3 1060 c.706C>G c.(706-708)Cac>Gac p.H236D APCDD1_ENST00000578882.1_Intron NM_153000.4 NP_694545.1 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) TGGTGACATTCACACTGATGC 0.537000 33 112 0 0 1 0 0 UBE4A 9354 broad.mit.edu 37 11 118260495 118260495 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:118260495G>C ENST00000252108.3 + 17 2774 c.2643G>C c.(2641-2643)ttG>ttC p.L881F UBE4A_ENST00000545354.1_Missense_Mutation_p.L353F|UBE4A_ENST00000431736.2_Missense_Mutation_p.L888F NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 881 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TCTCCATGTTGAACTACTTCC 0.458000 20 72 0 0 1 0 0 DHRS1 115817 broad.mit.edu 37 14 24760829 24760829 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:24760829G>A ENST00000288111.7 - 7 933 c.657C>T c.(655-657)ttC>ttT p.F219F DHRS1_ENST00000396813.1_Silent_p.F219F|DHRS1_ENST00000559088.1_5'UTR NM_001136050.2 NP_001129522.1 Q96LJ7 DHRS1_HUMAN dehydrogenase/reductase (SDR family) member 1 219 endoplasmic reticulum binding|oxidoreductase activity cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442) AGGCTGATTTGAACTGAAACA 0.478000 20 132 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16587581 16587581 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr4:16587581C>A ENST00000502640.1 - 5 727 c.579G>T c.(577-579)agG>agT p.R193S LDB2_ENST00000441778.2_Missense_Mutation_p.R193S|LDB2_ENST00000304523.5_Missense_Mutation_p.R193S|LDB2_ENST00000503178.2_Missense_Mutation_p.R69S|LDB2_ENST00000515064.1_Missense_Mutation_p.R193S O43679 LDB2_HUMAN LIM domain binding 2 193 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 TTAGCCCCATCCTGGTGATGT 0.418000 3 35 0.004672 0.00473294 1 1 0 ABCB8 11194 broad.mit.edu 37 7 150730929 150730929 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:150730929G>A ENST00000358849.4 + 2 426 c.333G>A c.(331-333)gtG>gtA p.V111V ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000356058.4_Silent_p.V148V|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000297504.6_Silent_p.V128V|ABCB8_ENST00000477719.1_Silent_p.V111V|ABCB8_ENST00000477092.1_Silent_p.V111V|ABCB8_ENST00000498578.1_Silent_p.V111V NM_001282291.1|NM_001282293.1|NM_007188.3 NP_001269220.1|NP_001269222.1|NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 128 ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCATGTCGTGGGGTCTCGCT 0.612000 10 43 0 0 1 0 0 TREH 11181 broad.mit.edu 37 11 118530140 118530140 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:118530140C>A ENST00000529101.1 - 12 1416 c.1371G>T c.(1369-1371)aaG>aaT p.K457N TREH_ENST00000397925.1_Missense_Mutation_p.K426N|TREH_ENST00000525958.1_Missense_Mutation_p.K426N|TREH_ENST00000530256.1_Missense_Mutation_p.K334N|TREH_ENST00000264029.4_Missense_Mutation_p.K457N O43280 TREA_HUMAN trehalase (brush-border membrane glycoprotein) 457 polysaccharide digestion|trehalose catabolic process anchored to plasma membrane alpha,alpha-trehalase activity NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.16e-05) GCTGGCCTGTCTTCTGGAGAG 0.607000 OREG0021385 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 9 3.59834e-05 3.68938e-05 1 1 0 PSG9 5678 broad.mit.edu 37 19 43762547 43762547 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:43762547G>A ENST00000244293.7 - 4 837 c.771C>T c.(769-771)ctC>ctT p.L257L PSG9_ENST00000291752.5_Silent_p.L164L|PSG9_ENST00000596730.1_Silent_p.L164L|PSG9_ENST00000418820.2_Silent_p.L257L|PSG9_ENST00000443718.3_Silent_p.L257L|PSG9_ENST00000270077.3_Silent_p.L350L|PSG9_ENST00000593948.1_Silent_p.L257L Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 255 Ig-like C2-type 2. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) AGGACAAGTCGAGGTTTTCTC 0.453000 6 171 0 0 1 0 0 FANCG 2189 broad.mit.edu 37 9 35079502 35079502 + Missense_Mutation SNP G G A rs35984312 byFrequency TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:35079502G>A ENST00000378643.3 - 1 511 c.20C>T c.(19-21)tCt>tTt p.S7F NM_004629.1 NP_004620.1 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 7 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding p.S7I(1)|p.S7F(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GGAGCCCACAGAGGTGGTCTG 0.647000 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks 17 86 0 0 1 0 0 TMEM62 80021 broad.mit.edu 37 15 43446902 43446902 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:43446902C>G ENST00000260403.2 + 9 1334 c.1055C>G c.(1054-1056)tCt>tGt p.S352C NM_024956.3 NP_079232.3 Q0P6H9 TMM62_HUMAN transmembrane protein 62 352 integral to membrane p.S352F(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) TCCATTACTTCTGTCACAGTT 0.398000 20 23 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70228014 70228014 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:70228014C>T ENST00000342771.4 + 7 1222 c.901C>T c.(901-903)Cag>Tag p.Q301* AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q301* NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 301 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CCCCTGCCCTCAGGTCGCACA 0.597000 10 48 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047654 9047654 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:9047654G>C ENST00000397910.4 - 5 34180 c.33977C>G c.(33976-33978)tCt>tGt p.S11326C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11328 Thr-rich. 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 GTCTCTCCCAGAGCTAGTGAC 0.507000 14 120 0 0 1 0 0 C3orf52 79669 broad.mit.edu 37 3 111831932 111831932 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:111831932G>A ENST00000264848.5 + 5 648 c.589G>A c.(589-591)Gat>Aat p.D197N C3orf52_ENST00000430855.1_Intron|C3orf52_ENST00000431717.2_Intron|C3orf52_ENST00000467942.2_3'UTR NM_024616.2 NP_078892 Q5BVD1 TTMP_HUMAN chromosome 3 open reading frame 52 197 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 GGATTTCCGTGATCAGAATAT 0.418000 3 12 0 0 1 0 0 TRAPPC4 51399 broad.mit.edu 37 11 118889590 118889590 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:118889590G>C ENST00000533632.1 + 1 449 c.85G>C c.(85-87)Gag>Cag p.E29Q TRAPPC4_ENST00000525303.1_Missense_Mutation_p.E29Q|TRAPPC4_ENST00000528230.1_Missense_Mutation_p.E29Q|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.E29Q|TRAPPC4_ENST00000434101.2_Missense_Mutation_p.E29Q|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.E29Q NM_016146.4 NP_057230.1 Q9Y296 TPPC4_HUMAN trafficking protein particle complex 4 29 dendrite development|ER to Golgi vesicle-mediated transport cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle protein binding NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) GGCTGAGGCTGAGAAAACTTT 0.562000 30 76 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717330 142717330 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:142717330G>A ENST00000381779.4 - 2 1820 c.1595C>T c.(1594-1596)cCa>cTa p.P532L SLITRK4_ENST00000338017.4_Missense_Mutation_p.P532L|SLITRK4_ENST00000356928.1_Missense_Mutation_p.P532L NM_001184749.2|NM_001184750.1|NM_173078.4 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 532 LRRCT 2. 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) ACAGTCCCATGGGTTGCCCTC 0.483000 59 13 0 0 1 0 0 EPT1 85465 broad.mit.edu 37 2 26609375 26609375 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:26609375C>T ENST00000260585.7 + 9 1185 c.1066C>T c.(1066-1068)Ctg>Ttg p.L356L NM_033505.2 NP_277040.1 Q9C0D9 EPT1_HUMAN ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) 356 phospholipid biosynthetic process integral to membrane ethanolaminephosphotransferase activity|metal ion binding TGCTTTTACTCTGGCCCACAT 0.433000 9 22 0 0 1 0 0 GRN 2896 broad.mit.edu 37 17 42427059 42427059 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:42427059C>T ENST00000053867.3 + 4 351 c.289C>T c.(289-291)Cac>Tac p.H97Y GRN_ENST00000589265.1_Missense_Mutation_p.H97Y NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 97 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GGATGGCCATCACTGCTGCCC 0.602000 7 27 0 0 1 0 0 SLC27A3 11000 broad.mit.edu 37 1 153752356 153752356 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:153752356G>C ENST00000271857.2 + 10 3074 c.2314G>C c.(2314-2316)Gag>Cag p.E772Q SLC27A3_ENST00000368661.3_Missense_Mutation_p.E691Q|SLC27A3_ENST00000484014.1_3'UTR Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 691 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GATGGCAAATGAGGGCTTCGA 0.602000 3 39 0 0 1 0 0 CDC16 8881 broad.mit.edu 37 13 115030646 115030646 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr13:115030646G>A ENST00000360383.3 + 17 1732 c.1534G>A c.(1534-1536)Gat>Aat p.D512N CDC16_ENST00000375308.1_Missense_Mutation_p.D418N|CDC16_ENST00000252457.5_Missense_Mutation_p.D511N|CDC16_ENST00000356221.3_Missense_Mutation_p.D512N|CDC16_ENST00000375310.1_Missense_Mutation_p.D418N|CDC16_ENST00000252458.6_Missense_Mutation_p.D367N|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000375312.3_Missense_Mutation_p.D367N NM_001078645.1|NM_003903.3 NP_001072113.1|NP_003894.3 Q13042 CDC16_HUMAN cell division cycle 16 512 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule binding endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) TAGGCGAGATGATACATTTTC 0.333000 35 84 0 0 1 0 0 HOXB13 10481 broad.mit.edu 37 17 46805601 46805601 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:46805601C>G ENST00000290295.7 - 1 939 c.355G>C c.(355-357)Gag>Cag p.E119Q NM_006361.5 NP_006352.2 Q92826 HXB13_HUMAN homeobox B13 119 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|lung(6)|prostate(1) 11 CTGGGGTACTCTTCCCCGGCC 0.647000 39 149 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52473737 52473737 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:52473737C>T ENST00000231721.2 - 12 1425 c.1426G>A c.(1426-1428)Gaa>Aaa p.E476K NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 476 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) TCCTCAGGTTCAGCTGAGCCC 0.622000 7 44 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 49039462 49039462 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr13:49039462C>G ENST00000267163.4 + 23 2585 c.2447C>G c.(2446-2448)tCa>tGa p.S816* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 816 Domain C; mediates interaction with E4F1.|Interaction with LIMD1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TATAAAATTTCAGAAGGTCTG 0.418000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 26 18 0 0 1 0 0 KIN 22944 broad.mit.edu 37 10 7816797 7816797 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:7816797G>T ENST00000379562.4 - 7 712 c.665C>A c.(664-666)tCa>tAa p.S222* KIN_ENST00000535925.1_Nonsense_Mutation_p.S222*|KIN_ENST00000543003.1_Nonsense_Mutation_p.S116* NM_012311.3 NP_036443.1 O60870 KIN17_HUMAN KIN, antigenic determinant of recA protein homolog (mouse) DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 AGCTCACCTTGACTTGGAAGA 0.313000 43 64 2.40228e-13 2.56463e-13 1 1 0 MVD 4597 broad.mit.edu 37 16 88729426 88729426 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:88729426G>C ENST00000301012.3 - 1 92 c.63C>G c.(61-63)atC>atG p.I21M MVD_ENST00000568709.1_5'UTR NM_002461.1 NP_002452.1 P53602 MVD1_HUMAN mevalonate (diphospho) decarboxylase 21 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) CACAGTACTTGATGACCGCGA 0.706000 3 9 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94495507 94495507 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:94495507G>A ENST00000375708.3 - 6 1032 c.834C>T c.(832-834)ctC>ctT p.L278L ROR2_ENST00000375715.1_Silent_p.L138L|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 278 FZ. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GAAGCCGCATGAGGATGAGCG 0.677000 7 7 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49212019 49212019 + Nonsense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:49212019G>C ENST00000327979.2 - 16 2336 c.1925C>G c.(1924-1926)tCa>tGa p.S642* FAM65C_ENST00000535356.1_Nonsense_Mutation_p.S646*|FAM65C_ENST00000045083.2_Nonsense_Mutation_p.S642* Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 642 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GACCAGCCTTGATAAATTAGG 0.542000 23 51 0 0 1 0 0 BPHL 670 broad.mit.edu 37 6 3137618 3137618 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:3137618G>A ENST00000380368.2 + 6 1148 c.504G>A c.(502-504)tgG>tgA p.W168* BPHL_ENST00000434640.1_Nonsense_Mutation_p.W168*|BPHL_ENST00000380379.5_Nonsense_Mutation_p.W185*|BPHL_ENST00000380375.3_Nonsense_Mutation_p.W168* Q86WA6 BPHL_HUMAN biphenyl hydrolase-like (serine hydrolase) 185 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6) 13 Ovarian(93;0.0386) all_hematologic(90;0.108) TTTCCAAATGGAGTGAGAGAA 0.408000 66 105 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29408407 29408407 + Silent SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:29408407C>A ENST00000444197.2 + 1 1325 c.615C>A c.(613-615)ctC>ctA p.L205L OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CAGCCCTCCTCATCCTCTGCC 0.582000 16 154 0.00316338 0.00321512 1 1 0 KCTD19 146212 broad.mit.edu 37 16 67327463 67327463 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:67327463C>T ENST00000304372.5 - 12 2257 c.2202G>A c.(2200-2202)caG>caA p.Q734Q NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 734 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CCTTGGTCCTCTGCTTGCTCC 0.532000 6 65 0 0 1 0 0 CCNJL 79616 broad.mit.edu 37 5 159686591 159686591 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:159686591C>A ENST00000393977.3 - 5 897 c.612G>T c.(610-612)ttG>ttT p.L204F CCNJL_ENST00000519673.1_Missense_Mutation_p.L156F|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.L156F|CCNJL_ENST00000541762.1_Missense_Mutation_p.L155F NM_024565.5 NP_078841.3 Q8IV13 CCNJL_HUMAN cyclin J-like 204 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGACGGAGGCCAAGAGGTAGT 0.612000 3 43 0.004672 0.00473294 1 1 0 OR11A1 26531 broad.mit.edu 37 6 29394788 29394788 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:29394788G>A ENST00000377149.1 - 5 1103 c.631C>T c.(631-633)Cct>Tct p.P211S OR11A1_ENST00000377148.1_Missense_Mutation_p.P211S|OR11A1_ENST00000377147.2_Missense_Mutation_p.P211S|OR5V1_ENST00000377154.1_Intron Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, member 1 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 AGTCCAAAAGGAATAGTGAGG 0.507000 3 36 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14801792 14801792 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:14801792C>T ENST00000380881.4 - 21 4370 c.3555G>A c.(3553-3555)ctG>ctA p.L1185L FREM1_ENST00000422223.2_Silent_p.L1184L|FREM1_ENST00000380880.3_Silent_p.L1184L Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1184 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TGATGCTGAACAGCAGGGCAT 0.527000 9 125 0 0 1 0 0 CCT7 10574 broad.mit.edu 37 2 73476281 73476281 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:73476281G>A ENST00000539919.1 + 9 1185 c.814G>A c.(814-816)Gag>Aag p.E272K CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000258091.5_Missense_Mutation_p.E316K|CCT7_ENST00000537131.1_Missense_Mutation_p.E216K|CCT7_ENST00000540468.1_Missense_Mutation_p.E229K|CCT7_ENST00000538797.1_Missense_Mutation_p.E188K|CCT7_ENST00000398422.2_Missense_Mutation_p.E112K NM_001166285.1 NP_001159757.1 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 (eta) 316 'de novo' posttranslational protein folding ATP binding|unfolded protein binding breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 CCGAGTACCTGAGGAGGATCT 0.517000 7 25 0 0 1 0 0 TTC14 151613 broad.mit.edu 37 3 180320690 180320690 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:180320690G>C ENST00000412756.2 + 2 242 c.173G>C c.(172-174)aGa>aCa p.R58T TTC14_ENST00000382584.4_Missense_Mutation_p.R58T|TTC14_ENST00000296015.4_Missense_Mutation_p.R58T NM_001042601.2 NP_001036066.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 58 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AAAGAGAAGAGAGTTGACAAC 0.353000 9 44 0 0 1 0 0 SFI1 9814 broad.mit.edu 37 22 32009350 32009350 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr22:32009350C>T ENST00000432498.1 + 25 2876 c.2483C>T c.(2482-2484)aCg>aTg p.T828M SFI1_ENST00000414585.1_Missense_Mutation_p.T706M|SFI1_ENST00000443326.1_Missense_Mutation_p.T777M|SFI1_ENST00000443011.1_Missense_Mutation_p.T706M|SFI1_ENST00000400289.1_Missense_Mutation_p.T777M|SFI1_ENST00000400288.2_Missense_Mutation_p.T859M|SFI1_ENST00000540643.1_Missense_Mutation_p.T804M NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 859 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 GTGTGGGCCACGTGGCTGGCC 0.677000 4 14 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115153721 115153721 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:115153721C>T ENST00000393274.1 - 9 1967 c.1342G>A c.(1342-1344)Gaa>Aaa p.E448K DENND2C_ENST00000393276.3_Missense_Mutation_p.E391K|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.E448K NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 448 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GCATCACTTTCGTTCCCACTG 0.468000 13 37 0 0 1 0 0 ZNF660 285349 broad.mit.edu 37 3 44636369 44636369 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:44636369C>G ENST00000322734.2 + 3 1017 c.684C>G c.(682-684)atC>atG p.I228M RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) AAACTTTCATCTTAAGGAAAA 0.378000 43 51 0 0 1 0 0 CKB 1152 broad.mit.edu 37 14 103987685 103987685 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:103987685C>G ENST00000348956.2 - 5 925 c.568G>C c.(568-570)Gac>Cac p.D190H NM_001823.4 NP_001814.2 P12277 KCRB_HUMAN creatine kinase, brain 190 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity lung(2)|prostate(1) 3 Melanoma(154;0.155) Epithelial(46;0.14) Creatine(DB00148) AGGAAGTGGTCGTCGATGAGC 0.697000 4 24 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118485124 118485124 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:118485124G>T ENST00000349139.5 + 10 1101 c.1054G>T c.(1054-1056)Gaa>Taa p.E352* NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) TCTGCAAGATGAAATCCAGCG 0.333000 4 104 0.00116845 0.00119146 1 1 0 CDH8 1006 broad.mit.edu 37 16 61687907 61687907 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:61687907C>T ENST00000577390.1 - 12 2959 c.2005G>A c.(2005-2007)Gat>Aat p.D669N CDH8_ENST00000299345.6_Missense_Mutation_p.D669N|CDH8_ENST00000577730.1_Missense_Mutation_p.D669N NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 669 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CCTCCTTCATCATCGTAGCGA 0.403000 36 92 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 185906165 185906165 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:185906165C>G ENST00000265022.3 - 22 2460 c.1921G>C c.(1921-1923)Gat>Cat p.D641H DGKG_ENST00000544847.1_Missense_Mutation_p.D582H|DGKG_ENST00000382164.4_Missense_Mutation_p.D602H|DGKG_ENST00000344484.4_Missense_Mutation_p.D616H NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 641 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity p.D641N(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CCAACCCCATCACACTGGAGG 0.527000 3 44 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151116998 151116998 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:151116998G>T ENST00000367328.1 + 6 901 c.589G>T c.(589-591)Gag>Tag p.E197* PLEKHG1_ENST00000358517.2_Nonsense_Mutation_p.E197* NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 197 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.E197K(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GCAGAGTGAAGAGTTCCACAT 0.358000 7 70 2.0095e-06 2.09024e-06 1 1 0 MSH4 4438 broad.mit.edu 37 1 76288233 76288233 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:76288233C>G ENST00000263187.3 + 7 1233 c.1129C>G c.(1129-1131)Caa>Gaa p.Q377E NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 377 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 AGAACTACTTCAAGATGAGGA 0.294000 Mismatch excision repair (MMR) 16 65 0 0 1 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91526717 91526717 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:91526717C>T ENST00000261991.3 - 1 235 c.62G>A c.(61-63)gGa>gAa p.G21E RPS6KA5_ENST00000418736.2_Missense_Mutation_p.G21E NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 21 axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) CTGCTCTCCTCCGTCGCCGCC 0.741000 9 9 0 0 1 0 0 POLK 51426 broad.mit.edu 37 5 74869628 74869628 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:74869628G>C ENST00000241436.4 + 5 646 c.474G>C c.(472-474)aaG>aaC p.K158N POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.K158N|POLK_ENST00000504026.1_Missense_Mutation_p.K158N|POLK_ENST00000380481.3_Missense_Mutation_p.K68N|POLK_ENST00000515295.1_Missense_Mutation_p.K158N|POLK_ENST00000352007.5_Missense_Mutation_p.K158N NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 158 UmuC. DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) TTATTGCTAAGAGGCTGTGCC 0.418000 DNA polymerases (catalytic subunits) 16 49 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124369977 124369977 + Splice_Site SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:124369977C>T ENST00000287394.5 - 12 1490 c.e12-1 ATAD2_ENST00000521903.1_Splice_Site NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAAACAACCTCTGTAAAACAA 0.323000 21 32 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51663375 51663375 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:51663375G>C ENST00000409535.2 + 4 492 c.367G>C c.(367-369)Gag>Cag p.E123Q NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) E -> Q (in Ref. 2; BAA34529). nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) GGATCAATTGGAGCCTGTTAC 0.458000 9 7 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77862371 77862371 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr13:77862371C>G ENST00000407578.2 - 3 785 c.519G>C c.(517-519)aaG>aaC p.K173N MYCBP2_ENST00000544440.2_Missense_Mutation_p.K135N|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.K135N NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GCACAGAGTTCTTAGATGCGG 0.408000 66 81 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127796722 127796722 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:127796722C>T ENST00000556132.1 - 6 3313 c.2449G>A c.(2449-2451)Gac>Aac p.D817N SOGA3_ENST00000481848.2_Missense_Mutation_p.D817N|SOGA3_ENST00000368268.2_Missense_Mutation_p.D817N|SOGA3_ENST00000465909.2_Missense_Mutation_p.D817N|SOGA3_ENST00000525778.1_Missense_Mutation_p.D817N|SOGA3_ENST00000474293.2_5'UTR NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 817 integral to membrane GAGCGGATGTCCTTCATCTGC 0.677000 27 83 0 0 1 0 0 PMS1 5378 broad.mit.edu 37 2 190719275 190719275 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:190719275C>G ENST00000441310.2 + 9 1510 c.1277C>G c.(1276-1278)tCt>tGt p.S426C PMS1_ENST00000418224.3_Missense_Mutation_p.S250C|PMS1_ENST00000432292.3_Missense_Mutation_p.S250C|PMS1_ENST00000409823.3_Missense_Mutation_p.S387C|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.S426C NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 426 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) AGTGAAATTTCTAACATTGAT 0.308000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 20 54 0 0 1 0 0 YY1AP1 55249 broad.mit.edu 37 1 155629762 155629762 + Missense_Mutation SNP C C T rs146837303 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:155629762C>T ENST00000368340.5 - 10 2401 c.2293G>A c.(2293-2295)Gat>Aat p.D765N YY1AP1_ENST00000311573.5_Missense_Mutation_p.D616N|YY1AP1_ENST00000361831.5_Missense_Mutation_p.D636N|YY1AP1_ENST00000347088.5_Missense_Mutation_p.D647N|YY1AP1_ENST00000355499.4_Missense_Mutation_p.D647N|YY1AP1_ENST00000295566.4_Missense_Mutation_p.D693N|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000359205.5_Missense_Mutation_p.D636N|YY1AP1_ENST00000368339.5_Missense_Mutation_p.D785N|YY1AP1_ENST00000407221.1_Missense_Mutation_p.D616N|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.D627N|YY1AP1_ENST00000535662.1_Missense_Mutation_p.D493N|YY1AP1_ENST00000368330.2_Missense_Mutation_p.D647N NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TTTTCCCCATCAGCCACAGCA 0.483000 10 77 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144991215 144991215 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:144991215G>A ENST00000322810.4 - 32 13354 c.13185C>T c.(13183-13185)atC>atT p.I4395I PLEC_ENST00000436759.2_Silent_p.I4285I|PLEC_ENST00000357649.2_Silent_p.I4262I|PLEC_ENST00000345136.3_Silent_p.I4258I|PLEC_ENST00000527096.1_Silent_p.I4281I|PLEC_ENST00000356346.3_Silent_p.I4244I|PLEC_ENST00000354958.2_Silent_p.I4236I|PLEC_ENST00000354589.3_Silent_p.I4258I|PLEC_ENST00000398774.2_Silent_p.I4226I NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4395 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGGCGGGGCTGATGGGGTAGG 0.677000 4 57 0 0 1 0 0 SFTPA1 653509 broad.mit.edu 37 10 81371559 81371559 + Splice_Site SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:81371559G>T ENST00000419470.2 + 3 99 c.23G>T c.(22-24)gGa>gTa p.G8V SFTPA1_ENST00000398636.3_5'UTR|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000428376.2_5'UTR|SFTPA1_ENST00000372308.3_5'UTR Q8IWL2 SFTA1_HUMAN surfactant protein A1 0 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) CCTCCTGCAGGAGCAGCGACT 0.617000 12 83 2.27111e-07 2.37295e-07 1 1 0 ITSN2 50618 broad.mit.edu 37 2 24471552 24471552 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:24471552C>T ENST00000355123.4 - 27 3677 c.3234G>A c.(3232-3234)caG>caA p.Q1078Q ITSN2_ENST00000361999.3_Silent_p.Q1051Q|ITSN2_ENST00000406921.3_Silent_p.Q1078Q NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1078 SH3 4. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTAATATTAACTGTCCTGGTG 0.328000 12 33 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566363 45566363 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr18:45566363G>A ENST00000588982.1 - 3 1617 c.1116C>T c.(1114-1116)gtC>gtT p.V372V ZBTB7C_ENST00000332053.2_Silent_p.V372V|ZBTB7C_ENST00000535628.2_Silent_p.V372V|ZBTB7C_ENST00000590800.1_Silent_p.V372V|ZBTB7C_ENST00000586438.1_Silent_p.V372V A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 372 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 CCCCCATGATGACTTTGTGGC 0.637000 4 118 0 0 1 0 0 FASTKD5 60493 broad.mit.edu 37 20 3128525 3128525 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:3128525G>C ENST00000380266.3 - 2 1513 c.1192C>G c.(1192-1194)Ctt>Gtt p.L398V UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 398 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 GAGCAGTAAAGAGTCAGGTGC 0.483000 31 24 0 0 1 0 0 TFDP2 7029 broad.mit.edu 37 3 141671484 141671484 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:141671484G>T ENST00000499676.2 - 13 1703 c.1032C>A c.(1030-1032)ttC>ttA p.F344L TFDP2_ENST00000397991.4_Missense_Mutation_p.F376L|TFDP2_ENST00000467072.1_Missense_Mutation_p.F344L|TFDP2_ENST00000477292.1_Missense_Mutation_p.F268L|TFDP2_ENST00000486111.1_Missense_Mutation_p.F344L|TFDP2_ENST00000310282.6_Missense_Mutation_p.F344L|TFDP2_ENST00000495310.1_Missense_Mutation_p.F307L|TFDP2_ENST00000317104.7_Missense_Mutation_p.F328L|TFDP2_ENST00000489671.1_Missense_Mutation_p.F404L|TFDP2_ENST00000479040.1_Missense_Mutation_p.F343L NM_001178139.1 NP_001171610.1 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization partner 2) 404 cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding p.G402fs*22(1)|p.F404F(1) kidney(1)|upper_aerodigestive_tract(2) 3 TTGGGGCCAGGAACTGCCCAG 0.502000 21 32 1.40151e-16 1.50485e-16 1 1 0 CIZ1 25792 broad.mit.edu 37 9 130942749 130942749 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr9:130942749C>G ENST00000538431.1 - 7 983 c.736G>C c.(736-738)Gca>Cca p.A246P CIZ1_ENST00000541172.1_Missense_Mutation_p.A145P|CIZ1_ENST00000372938.5_Missense_Mutation_p.A246P|CIZ1_ENST00000277465.4_Missense_Mutation_p.A246P|CIZ1_ENST00000357558.5_Missense_Mutation_p.A246P|CIZ1_ENST00000393608.1_Missense_Mutation_p.A246P|CIZ1_ENST00000372954.1_Missense_Mutation_p.A222P|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000325721.8_Missense_Mutation_p.A217P|CIZ1_ENST00000372948.3_Missense_Mutation_p.A246P NM_001257975.1 NP_001244904.1 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 246 nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 GGCTCAGGTGCTGGAGTGCGT 0.577000 7 69 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70478656 70478656 + Splice_Site SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:70478656G>A ENST00000310961.5 + 14 1453 c.e14-1 LRRC7_ENST00000415775.2_Splice_Site|LRRC7_ENST00000035383.5_Splice_Site Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GTTACCTACAGATTGGAAGTT 0.279000 5 81 0 0 1 0 0 VPS4A 27183 broad.mit.edu 37 16 69352563 69352563 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:69352563G>A ENST00000254950.11 + 4 448 c.292G>A c.(292-294)Gac>Aac p.D98N RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.D122N NM_013245.2 NP_037377.1 Q9UN37 VPS4A_HUMAN vacuolar protein sorting 4 homolog A (S. cerevisiae) 98 cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7 Ovarian(137;0.101) CAGTGACAGTGACAGTGAAGG 0.597000 3 12 0 0 1 0 0 BUD13 84811 broad.mit.edu 37 11 116633598 116633598 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:116633598G>A ENST00000260210.4 - 4 730 c.707C>T c.(706-708)tCa>tTa p.S236L BUD13_ENST00000375445.3_Intron NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 236 Arg-rich. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) AGAGATATCTGAGGAACCATG 0.537000 29 81 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13107262 13107262 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:13107262C>T ENST00000399002.2 + 9 1451 c.1177C>T c.(1177-1179)Cac>Tac p.H393Y SPTLC3_ENST00000378194.4_Silent_p.F319F NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 393 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups p.H393Y(1) breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) TTTACGGGTTCACTCGCATAG 0.438000 14 124 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37627570 37627570 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:37627570G>C ENST00000447079.4 + 2 1518 c.1485G>C c.(1483-1485)ttG>ttC p.L495F CDK12_ENST00000430627.2_Missense_Mutation_p.L495F NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 495 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 TTAAAGATTTGAAAGCACAGG 0.408000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 6 120 0 0 1 0 0 ANKIB1 54467 broad.mit.edu 37 7 91981897 91981897 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:91981897C>G ENST00000265742.3 + 9 1714 c.1338C>G c.(1336-1338)ctC>ctG p.L446L NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 446 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTGATACACTCAGCTTCCCAT 0.433000 30 140 0 0 1 0 0 C17orf80 55028 broad.mit.edu 37 17 71232922 71232922 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:71232922C>T ENST00000359042.2 + 3 1495 c.1301C>T c.(1300-1302)tCa>tTa p.S434L C17orf80_ENST00000426147.2_Missense_Mutation_p.S434L|C17orf80_ENST00000577615.1_Missense_Mutation_p.S434L|C17orf80_ENST00000255557.4_Missense_Mutation_p.S434L|C17orf80_ENST00000268942.8_Missense_Mutation_p.S434L|C17orf80_ENST00000535032.2_Missense_Mutation_p.S434L|C17orf80_ENST00000582793.1_Intron NM_017941.4 NP_060411 Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 434 integral to membrane kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) CCTTTATGTTCAGCCCAGCGT 0.547000 28 42 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4792859 4792859 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:4792859G>A ENST00000269856.3 + 1 1132 c.993G>A c.(991-993)caG>caA p.Q331Q AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 331 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) TGCGTCACCAGGGGGGCGAGT 0.597000 25 33 0 0 1 0 0 TMCO3 55002 broad.mit.edu 37 13 114150042 114150042 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr13:114150042G>A ENST00000434316.2 + 2 505 c.146G>A c.(145-147)tGg>tAg p.W49* TMCO3_ENST00000375391.1_Nonsense_Mutation_p.W49*|TMCO3_ENST00000474393.1_3'UTR NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 49 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) AGCCGGCAGTGGGTCCGGGAC 0.612000 4 17 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86064769 86064769 + Silent SNP G G A rs116628862 by1000genomes TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:86064769G>A ENST00000394518.2 + 3 239 c.144G>A c.(142-144)cgG>cgA p.R48R AKAP13_ENST00000361243.2_Silent_p.R48R|AKAP13_ENST00000560302.1_Silent_p.R48R NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 48 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CAAGTACTCGGAAGGTCAGTT 0.413000 5 64 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53190941 53190941 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:53190941C>G ENST00000566029.1 + 2 1149 c.940C>G c.(940-942)Cat>Gat p.H314D CHD9_ENST00000447540.1_Missense_Mutation_p.H314D|CHD9_ENST00000398510.3_Missense_Mutation_p.H314D|CHD9_ENST00000564845.1_Missense_Mutation_p.H314D Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 314 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) CTTTTCACCTCATAGAGGAAT 0.353000 3 30 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37871731 37871731 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:37871731C>T ENST00000406381.2 + 13 1675 c.1165C>T c.(1165-1167)Ctg>Ttg p.L389L ERBB2_ENST00000541774.1_Silent_p.L404L|ERBB2_ENST00000540147.1_Silent_p.L389L|ERBB2_ENST00000269571.5_Silent_p.L419L|ERBB2_ENST00000445658.2_Silent_p.L143L|ERBB2_ENST00000584601.1_Silent_p.L389L|ERBB2_ENST00000584450.1_Silent_p.L419L|ERBB2_ENST00000540042.1_Silent_p.L389L|ERBB2_ENST00000578199.1_Silent_p.L389L NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 419 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GCCGGACAGCCTGCCTGACCT 0.572000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 15 50 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155735084 155735084 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:155735084G>A ENST00000437809.1 - 21 4302 c.4180C>T c.(4180-4182)Caa>Taa p.Q1394* GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Nonsense_Mutation_p.Q1394*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q1394*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q1394* NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1394 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GGGGGCTCTTGAGAAGATGAA 0.488000 21 71 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3119943 3119943 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr18:3119943C>T ENST00000400569.3 - 20 3375 c.3042G>A c.(3040-3042)atG>atA p.M1014I MYOM1_ENST00000356443.4_Missense_Mutation_p.M1014I|MYOM1_ENST00000261606.7_Missense_Mutation_p.M918I P52179 MYOM1_HUMAN myomesin 1 1014 Fibronectin type-III 4. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CAGCCATGTTCATGGCTGCCA 0.493000 9 20 0 0 1 0 0 SEC23IP 11196 broad.mit.edu 37 10 121658409 121658409 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:121658409C>T ENST00000369075.3 + 2 706 c.634C>T c.(634-636)Cat>Tat p.H212Y SEC23IP_ENST00000543134.1_Intron NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 212 Interaction with SEC23A.|Pro-rich. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) CCCTCCTGCTCATCCTCCACC 0.532000 6 47 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8131097 8131097 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:8131097C>T ENST00000600128.1 - 64 8550 c.8136G>A c.(8134-8136)ctG>ctA p.L2712L FBN3_ENST00000270509.2_Silent_p.L2712L|FBN3_ENST00000601739.1_Silent_p.L2712L Q75N90 FBN3_HUMAN fibrillin 3 2712 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GTGAGAGGTTCAGGCCCAAGG 0.662000 3 14 0 0 1 0 0 MX2 4600 broad.mit.edu 37 21 42780032 42780032 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr21:42780032C>T ENST00000330714.3 + 14 2204 c.2020C>T c.(2020-2022)Cgc>Tgc p.R674C NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 674 GED. response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) GGAAAAAAATCGCTATTCCTG 0.468000 12 53 0 0 1 0 0 SARS 6301 broad.mit.edu 37 1 109779919 109779919 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:109779919C>T ENST00000369923.4 + 11 1388 c.1377C>T c.(1375-1377)atC>atT p.I459I SARS_ENST00000468588.1_3'UTR|SARS_ENST00000234677.2_Silent_p.I437I P49591 SYSC_HUMAN seryl-tRNA synthetase 437 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) CCCGTACCATCTGCGCCATCC 0.542000 5 101 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90388392 90388392 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:90388392C>T ENST00000369393.3 - 75 12453 c.12338G>A c.(12337-12339)cGg>cAg p.R4113Q MDN1_ENST00000428876.1_Missense_Mutation_p.R4113Q Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4113 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GGCTTCTGACCGCTGCTTCTC 0.483000 6 96 0 0 1 0 0 COL4A3BP 10087 broad.mit.edu 37 5 74696043 74696043 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:74696043C>G ENST00000380494.5 - 11 1774 c.1481G>C c.(1480-1482)aGa>aCa p.R494T COL4A3BP_ENST00000261415.7_Missense_Mutation_p.R366T|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.R366T NM_001130105.1 NP_001123577.1 Q9Y5P4 C43BP_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 366 START. ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) TTGGACAAATCTATGTGTCCC 0.368000 12 6 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141578823 141578823 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr4:141578823C>G ENST00000442267.2 - 12 2139 c.2065G>C c.(2065-2067)Gag>Cag p.E689Q NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 689 Rab-GAP TBC. intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) ACTGCACTCTCAAAAGGCATC 0.468000 24 67 0 0 1 0 0 BTRC 8945 broad.mit.edu 37 10 103294607 103294607 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:103294607C>T ENST00000370187.3 + 10 1405 c.1287C>T c.(1285-1287)gtC>gtT p.V429V BTRC_ENST00000393441.4_Silent_p.V388V|BTRC_ENST00000408038.2_Silent_p.V393V NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase 429 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) GAGCTGCTGTCAATGTTGTAG 0.458000 22 47 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33653566 33653566 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:33653566C>T ENST00000374316.5 + 42 6689 c.5629C>T c.(5629-5631)Ctg>Ttg p.L1877L ITPR3_ENST00000605930.1_Silent_p.L1877L Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 1877 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CCTGCGCTTTCTGCAGCTGCT 0.662000 20 29 0 0 1 0 0 DDX41 51428 broad.mit.edu 37 5 176939621 176939621 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:176939621G>A ENST00000507955.1 - 14 1948 c.1425C>T c.(1423-1425)atC>atT p.I475I NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 475 Helicase C-terminal. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) GGAATGCCTCGATGGCCTTAG 0.602000 12 40 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727775 20727775 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:20727775G>C ENST00000427401.4 - 4 1328 c.1234C>G c.(1234-1236)Ctt>Gtt p.L412V NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 412 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TGTGTAGTAAGGGAAGAGGAG 0.418000 8 65 0 0 1 0 0 JMY 133746 broad.mit.edu 37 5 78596498 78596498 + Splice_Site SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:78596498G>T ENST00000396137.4 + 6 2155 c.e6-1 JMY_ENST00000412001.1_Intron NM_152405.4 NP_689618.4 Q8N9B5 JMY_HUMAN junction mediating and regulatory protein, p53 cofactor 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) ttctgTAACAGAAAAAAGAGA 0.428000 4 17 0.000602214 0.000615421 1 1 0 STK19 8859 broad.mit.edu 37 6 31940236 31940236 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:31940236G>C ENST00000375331.2 + 2 544 c.378G>C c.(376-378)aaG>aaC p.K126N STK19_ENST00000463823.1_3'UTR|STK19_ENST00000375333.2_Missense_Mutation_p.K126N NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 126 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 TTGGAGTTAAGAGGCGGCGGA 0.612000 23 42 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5347938 5347938 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:5347938C>T ENST00000399537.4 - 30 9054 c.8706G>A c.(8704-8706)gcG>gcA p.A2902A TNRC18_ENST00000430969.1_Silent_p.A2902A O15417 TNC18_HUMAN trinucleotide repeat containing 18 2902 BAH. DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) ACTGGTATAGCGCGCGCTGCG 0.632000 5 18 0 0 1 0 0 UFD1L 7353 broad.mit.edu 37 22 19438233 19438233 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr22:19438233C>G ENST00000263202.10 - 12 1013 c.884G>C c.(883-885)gGa>gCa p.G295A UFD1L_ENST00000399523.1_3'UTR|UFD1L_ENST00000360834.4_Missense_Mutation_p.G284A NM_001035247.2|NM_005659.6 NP_001030324.2|NP_005650.2 Q92890 UFD1_HUMAN ubiquitin fusion degradation 1 like (yeast) skeletal system development|ubiquitin-dependent protein catabolic process cytosol|nucleus protein binding|ubiquitin-specific protease activity large_intestine(3)|upper_aerodigestive_tract(1) 4 Colorectal(54;0.0993) CTGTCCTTCTCCAGAGAAAGC 0.403000 10 74 0 0 1 0 0 DXO 1797 broad.mit.edu 37 6 31937794 31937794 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:31937794G>A ENST00000375349.3 - 7 1462 c.1051C>T c.(1051-1053)Cat>Tat p.H351Y DXO_ENST00000375356.3_Missense_Mutation_p.H351Y|DXO_ENST00000337523.5_Missense_Mutation_p.H351Y|DXO_ENST00000478221.1_5'UTR decapping exoribonuclease 351 GAGAAGAGATGAACGAGCCTG 0.587000 19 22 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26343323 26343323 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr13:26343323G>A ENST00000381655.2 + 26 2666 c.2524G>A c.(2524-2526)Gaa>Aaa p.E842K ATP8A2_ENST00000255283.8_Missense_Mutation_p.E802K|ATP8A2_ENST00000491840.1_3'UTR NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 802 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CAGTGGGAATGAAGGCATGCA 0.597000 20 39 0 0 1 0 0 HIST1H2AG 8969 broad.mit.edu 37 6 27100915 27100915 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:27100915C>T ENST00000359193.2 + 1 84 c.65C>T c.(64-66)gCc>gTc p.A22V NM_021064.4 NP_066408.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 22 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 17 TCTTCTAGGGCCGGTCTCCAG 0.652000 33 44 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25616465 25616465 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr18:25616465C>G ENST00000399380.3 - 1 84 c.48G>C c.(46-48)aaG>aaC p.K16N CDH2_ENST00000269141.3_Intron P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 0 A -> L (in Ref. 1; CAA38213). adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTGCTTGGTTCTTTAATTTCT 0.318000 58 82 0 0 1 0 0 SELRC1 65260 broad.mit.edu 37 1 53163960 53163960 + Silent SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:53163960G>C ENST00000371538.3 - 1 78 c.39C>G c.(37-39)gtC>gtG p.V13V NM_023077.2 NP_075565.2 Q96BR5 SELR1_HUMAN Sel1 repeat containing 1 13 binding breast(1)|lung(3)|prostate(1)|urinary_tract(1) 6 AAAAGGACTTGACCTGCTCCT 0.677000 9 68 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96805592 96805592 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:96805592G>A ENST00000371270.3 - 6 1030 c.936C>T c.(934-936)ctC>ctT p.L312L CYP2C8_ENST00000539050.1_Silent_p.L226L|CYP2C8_ENST00000535898.1_Silent_p.L210L NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 312 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GCTTCAGCAGGAGCAGGAGTC 0.453000 16 55 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38963047 38963047 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:38963047C>T ENST00000357387.3 - 17 1527 c.1497G>A c.(1495-1497)caG>caA p.Q499Q RICTOR_ENST00000296782.5_Silent_p.Q499Q NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 499 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) CAATTGCTTTCTGAATAATGT 0.388000 24 119 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51914586 51914586 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:51914586G>C ENST00000353836.5 - 10 1797 c.1576C>G c.(1576-1578)Cgg>Ggg p.R526G SIGLEC10_ENST00000439889.2_Missense_Mutation_p.R563G|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.R436G|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.R621G|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.R478G|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.R621G|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.R468G|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.R378G|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.R443G NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 621 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) AGAGGGGTCCGAGGACTGTTT 0.488000 16 36 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103297768 103297768 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:103297768C>G ENST00000520539.1 - 39 6063 c.5457G>C c.(5455-5457)ttG>ttC p.L1819F UBR5_ENST00000521922.1_Missense_Mutation_p.L1813F|UBR5_ENST00000220959.4_Missense_Mutation_p.L1819F NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1819 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CTTGGTAAGTCAATTTCACAG 0.378000 4 81 0 0 1 0 0 SFTPA2 729238 broad.mit.edu 37 10 81319098 81319098 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:81319098C>T ENST00000372325.2 - 3 226 c.142G>A c.(142-144)Gat>Aat p.D48N SFTPA2_ENST00000372327.5_Missense_Mutation_p.D48N NM_001098668.2 NP_001092138.1 Q8IWL1 SFPA2_HUMAN surfactant protein A2 48 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 9 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) TTGACACCATCTCTCCCGTCC 0.627000 Pulmonary Fibrosis, Idiopathic 5 66 0 0 1 0 0 SLU7 10569 broad.mit.edu 37 5 159834982 159834982 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:159834982C>G ENST00000297151.4 - 9 1300 c.913G>C c.(913-915)Gat>Cat p.D305H NM_006425.4 NP_006416.3 O95391 SLU7_HUMAN SLU7 splicing factor homolog (S. cerevisiae) 305 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1) 20 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTTACTCATCTGGATTCTTT 0.338000 8 80 0 0 1 0 0 SPNS3 201305 broad.mit.edu 37 17 4349438 4349438 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:4349438G>A ENST00000355530.2 + 4 778 c.498G>A c.(496-498)gtG>gtA p.V166V SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Silent_p.V39V NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 166 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 ACCTCTTCGTGAGGGACCAGC 0.612000 22 45 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117817073 117817073 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:117817073G>A ENST00000276204.6 + 52 6069 c.5995G>A c.(5995-5997)Gaa>Aaa p.E1999K DOCK11_ENST00000276202.7_Missense_Mutation_p.E1999K Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1999 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CATTGCACTTGAACTAAATGA 0.338000 10 73 0 0 1 0 0 CAT 847 broad.mit.edu 37 11 34489873 34489873 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:34489873G>C ENST00000241052.4 + 11 1454 c.1365G>C c.(1363-1365)caG>caC p.Q455H NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 455 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) ATGAGGAACAGAGGAAACGTC 0.458000 3 82 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112786132 112786132 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:112786132C>G ENST00000295408.4 + 19 2948 c.2691C>G c.(2689-2691)atC>atG p.I897M MERTK_ENST00000421804.2_Missense_Mutation_p.I897M|MERTK_ENST00000409780.1_Missense_Mutation_p.I721M Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 897 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 ACTTGAACATCGACCCTGACT 0.542000 41 54 0 0 1 0 0 CCDC51 79714 broad.mit.edu 37 3 48475257 48475257 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:48475257G>C ENST00000395694.2 - 3 422 c.337C>G c.(337-339)Cga>Gga p.R113G CCDC51_ENST00000447018.1_Missense_Mutation_p.R4G|CCDC51_ENST00000442740.1_Missense_Mutation_p.R4G|CCDC51_ENST00000395696.1_Missense_Mutation_p.R113G|CCDC51_ENST00000412398.2_Missense_Mutation_p.R4G NM_001256964.1 NP_001243893.1 Q96ER9 CCD51_HUMAN coiled-coil domain containing 51 113 integral to membrane endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) ACAAGCCCTCGAGCCACCATG 0.597000 20 77 0 0 1 0 0 FAM46C 54855 broad.mit.edu 37 1 118165941 118165941 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:118165941C>T ENST00000369448.3 + 2 698 c.451C>T c.(451-453)Cgc>Tgc p.R151C NM_017709.3 NP_060179.2 Q5VWP2 FA46C_HUMAN family with sequence similarity 46, member C 151 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) GGACACTGACCGCTGGAGCCT 0.512000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 20 58 0 0 1 0 0 MAP2K2 5605 broad.mit.edu 37 19 4101065 4101065 + Silent SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:4101065G>T ENST00000262948.5 - 6 910 c.657C>A c.(655-657)ctC>ctA p.L219L MAP2K2_ENST00000394867.4_Silent_p.L122L NM_030662.3 NP_109587.1 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 219 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TGGAGTCGATGAGCTGGCCGC 0.637000 3 8 0.004672 0.00473294 1 1 0 CDKL3 51265 broad.mit.edu 37 5 133685949 133685949 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:133685949G>C ENST00000521118.1 - 4 644 c.530C>G c.(529-531)tCt>tGt p.S177C CDKL3_ENST00000265334.4_Missense_Mutation_p.S177C|CDKL3_ENST00000522501.1_Intron|CDKL3_ENST00000523832.1_Missense_Mutation_p.S177C|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000523054.1_5'UTR|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000609383.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000435211.1_Missense_Mutation_p.S177C|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000435240.2_Intron Q8IVW4 CDKL3_HUMAN cyclin-dependent kinase-like 3 177 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTTTCCATAAGAAGTATCTTT 0.423000 4 4 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40035106 40035106 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:40035106C>T ENST00000352035.2 - 21 2467 c.2337G>A c.(2335-2337)ttG>ttA p.L779L ACLY_ENST00000537919.1_Silent_p.L508L|ACLY_ENST00000353196.1_Silent_p.L769L|ACLY_ENST00000393896.2_Silent_p.L769L|ACLY_ENST00000590151.1_Silent_p.L779L NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 779 CoA-binding (Potential). ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CTGCTTCCTTCAAAGCCTGGT 0.537000 6 77 0 0 1 0 0 CAPN5 726 broad.mit.edu 37 11 76795980 76795980 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:76795980G>A ENST00000278559.3 + 2 237 c.48G>A c.(46-48)ctG>ctA p.L16L CAPN5_ENST00000531028.1_Silent_p.L16L|CAPN5_ENST00000456580.2_Silent_p.L16L|CAPN5_ENST00000529629.1_Silent_p.L16L NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 16 proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 ACTCAGCCCTGAGGCGGGACT 0.642000 7 16 0 0 1 0 0 SEPT11 55752 broad.mit.edu 37 4 77949871 77949871 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr4:77949871G>A ENST00000264893.6 + 8 1244 c.1043G>A c.(1042-1044)aGa>aAa p.R348K SEPT11_ENST00000510515.1_Missense_Mutation_p.R358K|SEPT11_ENST00000541121.1_Missense_Mutation_p.R358K|SEPT11_ENST00000505788.1_Missense_Mutation_p.R348K|SEPT11_ENST00000512575.1_3'UTR|SEPT11_ENST00000502584.1_Missense_Mutation_p.R348K NM_018243.2 NP_060713.1 Q9NVA2 SEP11_HUMAN septin 11 348 cell cycle|cell division|protein heterooligomerization axon|cell junction|dendritic spine|septin complex|stress fiber|synapse GTP binding|protein binding endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 11 TTTGTTATGAGAGTGAAGGAG 0.373000 3 39 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82834409 82834409 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:82834409G>A ENST00000265077.3 + 8 6152 c.5587G>A c.(5587-5589)Gaa>Aaa p.E1863K VCAN_ENST00000343200.5_Missense_Mutation_p.E876K|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1863 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AATTCAAGCCGAAAAGGAAGT 0.468000 74 66 0 0 1 0 0 NSUN7 79730 broad.mit.edu 37 4 40752914 40752914 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr4:40752914C>G ENST00000381782.2 + 2 699 c.204C>G c.(202-204)atC>atG p.I68M NSUN7_ENST00000316607.5_Missense_Mutation_p.I68M NM_024677.4 NP_078953 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 AAGTCTTAATCAAGTATGGGA 0.483000 22 46 0 0 1 0 0 SNX5 27131 broad.mit.edu 37 20 17934671 17934671 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:17934671C>T ENST00000377768.3 - 5 670 c.358G>A c.(358-360)Gaa>Aaa p.E120K SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.E120K NM_152227.1 NP_689413.1 Q9Y5X3 SNX5_HUMAN sorting nexin 5 120 PX. cell communication|pinocytosis|protein transport cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle phosphatidylinositol binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 11 TTGGCAAATTCTTCTTTGGTC 0.458000 10 132 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132491247 132491247 + Silent SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:132491247C>A ENST00000333577.4 + 16 3346 c.3237C>A c.(3235-3237)gtC>gtA p.V1079V EP400_ENST00000389562.2_Silent_p.V1042V|EP400_ENST00000332482.4_Silent_p.V1006V|EP400_ENST00000330386.6_Silent_p.V1043V|EP400_ENST00000389561.2_Silent_p.V1043V Q96L91 EP400_HUMAN E1A binding protein p400 1079 Interactions with RUVBL1 and RUVBL2. 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) CACTGCAGGTCAAGTTTAATG 0.388000 13 18 1.5842e-08 1.66833e-08 1 1 0 USHBP1 83878 broad.mit.edu 37 19 17373469 17373469 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:17373469C>T ENST00000252597.3 - 4 707 c.534G>A c.(532-534)gaG>gaA p.E178E USHBP1_ENST00000431146.2_Silent_p.E114E|USHBP1_ENST00000598570.1_5'UTR NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 178 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 AGGCATTCCTCTCGGCCAGGC 0.672000 33 48 0 0 1 0 0 CCDC34 91057 broad.mit.edu 37 11 27384432 27384432 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:27384432C>G ENST00000317945.6 - 1 349 c.310G>C c.(310-312)Gag>Cag p.E104Q CCDC34_ENST00000328697.6_Missense_Mutation_p.E104Q NM_080654.2 NP_542385.1 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 104 p.E104K(1) endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1) 9 ACTTTGGCCTCTGAATCATGG 0.572000 27 45 0 0 1 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79954410 79954410 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:79954410C>T ENST00000306729.7 + 7 718 c.621C>T c.(619-621)ctC>ctT p.L207L ASPSCR1_ENST00000306739.4_Silent_p.L207L|ASPSCR1_ENST00000580534.1_Silent_p.L130L NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 207 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CTGGGGAGCTCAGCCGCGGCG 0.697000 T TFE3 alveolar soft part sarcoma 18 19 0 0 1 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778327 31778327 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:31778327G>C ENST00000375654.4 - 2 1612 c.1423C>G c.(1423-1425)Cag>Gag p.Q475E HSPA1L_ENST00000417199.3_Missense_Mutation_p.Q475E NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 475 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 ACCTCGATCTGAGGAACTCCC 0.537000 11 97 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64514753 64514753 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:64514753G>T ENST00000164139.3 - 18 2653 c.2255C>A c.(2254-2256)tCc>tAc p.S752Y PYGM_ENST00000377432.3_Missense_Mutation_p.S664Y NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 752 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) CTGTTTGGGGGAGAAGAAGCC 0.577000 7 41 0.0381472 0.0384359 1 1 0 TENM2 57451 broad.mit.edu 37 5 167674421 167674421 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:167674421G>A ENST00000519204.1 + 26 6232 c.6114G>A c.(6112-6114)cgG>cgA p.R2038R TENM2_ENST00000518659.1_Silent_p.R2159R|TENM2_ENST00000403607.2_Silent_p.R1983R|TENM2_ENST00000520394.1_Silent_p.R1920R|TENM2_ENST00000545108.1_Silent_p.R2158R teneurin transmembrane protein 2 CCCATGGGCGGATCAAGGAGG 0.498000 28 33 0 0 1 0 0 FAXC 84553 broad.mit.edu 37 6 99781282 99781282 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:99781282G>A ENST00000389677.5 - 3 826 c.544C>T c.(544-546)Cat>Tat p.H182Y FAXC_ENST00000538471.1_Intron NM_032511.2 NP_115900.1 Q5TGI0 CF168_HUMAN failed axon connections homolog (Drosophila) 182 GCTCTTTCATGAGGGCCAAGG 0.458000 11 41 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76744047 76744047 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:76744047C>G ENST00000369963.3 - 3 437 c.248G>C c.(247-249)aGa>aCa p.R83T IMPG1_ENST00000369950.3_Missense_Mutation_p.R161T Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 161 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) AGGGAAACTTCTCTGTTTTAT 0.343000 18 43 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118501966 118501966 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:118501966G>A ENST00000349139.5 + 27 2775 c.2728G>A c.(2728-2730)Gag>Aag p.E910K SPAG17_ENST00000336338.5_Intron NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) GAGGGAATGCGAGGCAAAAAG 0.388000 23 55 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123171442 123171442 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:123171442C>T ENST00000371160.1 + 6 644 c.354C>T c.(352-354)atC>atT p.I118I STAG2_ENST00000371157.3_Silent_p.I118I|STAG2_ENST00000371144.3_Silent_p.I118I|STAG2_ENST00000371145.3_Silent_p.I118I|STAG2_ENST00000354548.5_Silent_p.I49I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.I118I NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 118 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 TTGACCTTATCAACTTTTTTA 0.353000 7 73 0 0 1 0 0 NXPE1 120400 broad.mit.edu 37 11 114393095 114393095 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:114393095C>G ENST00000536271.1 - 4 1630 c.387G>C c.(385-387)ctG>ctC p.L129L NXPE1_ENST00000424269.1_Silent_p.L413L|NXPE1_ENST00000251921.2_Silent_p.L271L neurexophilin and PC-esterase domain family, member 1 CATGATCTATCAGAGAGTAGA 0.423000 5 71 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69262893 69262893 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:69262893G>A ENST00000408913.2 - 1 297 c.119C>T c.(118-120)tCc>tTc p.S40F Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 294 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CCTTCGTGGGGAGGGGCGGCC 0.657000 6 29 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31936655 31936655 + Missense_Mutation SNP G G T rs142829063 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:31936655G>T ENST00000375394.2 + 26 3301 c.3188G>T c.(3187-3189)cGa>cTa p.R1063L SKIV2L_ENST00000544581.1_Missense_Mutation_p.R870L NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 1063 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 CAGGTGCTCCGAACCCTGGGT 0.607000 31 48 1.02151e-06 1.06493e-06 1 1 0 ITGBL1 9358 broad.mit.edu 37 13 102105260 102105260 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr13:102105260C>G ENST00000376180.3 + 1 295 c.76C>G c.(76-78)Caa>Gaa p.Q26E ITGBL1_ENST00000545560.2_5'UTR NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 26 cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGCTGTTCCTCAAAGCTTCTC 0.567000 39 66 0 0 1 0 0 NFATC4 4776 broad.mit.edu 37 14 24842515 24842515 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:24842515G>A ENST00000413692.2 + 5 1831 c.1687G>A c.(1687-1689)Gta>Ata p.V563I NFATC4_ENST00000539237.2_Missense_Mutation_p.V532I|NFATC4_ENST00000554661.1_Missense_Mutation_p.V430I|NFATC4_ENST00000422617.3_Missense_Mutation_p.V488I|NFATC4_ENST00000554050.1_Missense_Mutation_p.V500I|NFATC4_ENST00000556279.1_Missense_Mutation_p.V532I|NFATC4_ENST00000556759.1_Missense_Mutation_p.V35I|NFATC4_ENST00000250373.4_Missense_Mutation_p.V500I|NFATC4_ENST00000553708.1_Missense_Mutation_p.V500I|NFATC4_ENST00000555167.1_Missense_Mutation_p.V35I|NFATC4_ENST00000557451.1_Missense_Mutation_p.V430I|NFATC4_ENST00000424781.2_Missense_Mutation_p.V513I|NFATC4_ENST00000555453.1_Missense_Mutation_p.V488I|NFATC4_ENST00000555590.1_Missense_Mutation_p.V513I|NFATC4_ENST00000553469.1_Missense_Mutation_p.V532I|NFATC4_ENST00000554966.1_Missense_Mutation_p.V513I|NFATC4_ENST00000554591.1_Missense_Mutation_p.V563I|NFATC4_ENST00000554344.1_Missense_Mutation_p.V430I|NFATC4_ENST00000556169.1_Missense_Mutation_p.V488I|NFATC4_ENST00000553879.1_Missense_Mutation_p.V430I|NFATC4_ENST00000554473.1_Missense_Mutation_p.V35I NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 500 RHD. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CTATGAAGCCGTAGTCAGTGG 0.562000 6 32 0 0 1 0 0 ALOXE3 59344 broad.mit.edu 37 17 7999952 7999952 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:7999952G>A ENST00000380149.1 - 15 2627 c.2597C>T c.(2596-2598)tCc>tTc p.S866F ALOXE3_ENST00000448843.2_Missense_Mutation_p.S710F|ALOXE3_ENST00000318227.3_Missense_Mutation_p.S842F Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 710 leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 TGGTTAGATGGAGACGCTGTT 0.577000 15 69 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96106200 96106200 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr4:96106200G>A ENST00000453304.1 - 13 2632 c.2284C>T c.(2284-2286)Cag>Tag p.Q762* NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 762 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) AACCTTACCTGATATTTAGCC 0.428000 21 55 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3119226 3119226 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:3119226G>C ENST00000304094.1 + 1 312 c.312G>C c.(310-312)atG>atC p.M104I NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 TGTATTTCATGATAGCCTTGG 0.473000 22 71 0 0 1 0 0 APOL3 80833 broad.mit.edu 37 22 36537616 36537616 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr22:36537616G>C ENST00000424878.2 - 4 2389 c.241C>G c.(241-243)Ctt>Gtt p.L81V APOL3_ENST00000397287.2_Missense_Mutation_p.L81V|APOL3_ENST00000349314.2_Missense_Mutation_p.L281V|APOL3_ENST00000397293.2_Missense_Mutation_p.L210V|APOL3_ENST00000361710.2_Missense_Mutation_p.L81V O95236 APOL3_HUMAN apolipoprotein L, 3 281 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 TAATTATTAAGAAGGGAAAGT 0.498000 18 60 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063711 48063711 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:48063711C>A ENST00000316364.5 + 19 3390 c.2951C>A c.(2950-2952)cCa>cAa p.P984Q SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P928Q|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P984Q|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P909Q|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P941Q|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P922Q|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P922Q|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P965Q|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P922Q NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 984 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TTAAACTCACCAAATGGTGTT 0.463000 44 38 2.51966e-14 2.69303e-14 1 1 0 DGKG 1608 broad.mit.edu 37 3 185906061 185906061 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:185906061C>T ENST00000265022.3 - 22 2564 c.2025G>A c.(2023-2025)aaG>aaA p.K675K DGKG_ENST00000544847.1_Silent_p.K616K|DGKG_ENST00000382164.4_Silent_p.K636K|DGKG_ENST00000344484.4_Silent_p.K650K NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 675 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CAGCCCGGTTCTTCTTGTTTT 0.502000 5 83 0 0 1 0 0 EFNA5 1946 broad.mit.edu 37 5 106763185 106763185 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr5:106763185C>T ENST00000333274.6 - 2 432 c.151G>A c.(151-153)Gat>Aat p.D51N EFNA5_ENST00000509503.1_Missense_Mutation_p.D51N NM_001962.2 NP_001953.1 P52803 EFNA5_HUMAN ephrin-A5 51 cell-cell signaling anchored to plasma membrane|caveola|extracellular space ephrin receptor binding large_intestine(6) 6 all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241) Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109) ATACAGACATCAATATGGTAG 0.413000 41 48 0 0 1 0 0 ZNF780B 163131 broad.mit.edu 37 19 40540936 40540936 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:40540936C>T ENST00000434248.1 - 5 1895 c.1830G>A c.(1828-1830)gaG>gaA p.E610E ZNF780B_ENST00000221355.6_Silent_p.E462E NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 610 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CAAAGGGCTTCTCACCAGTAT 0.408000 12 88 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27800638 27800638 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:27800638C>T ENST00000408964.2 + 1 1250 c.1199C>T c.(1198-1200)cCa>cTa p.P400L NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 400 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CATCAAGTCCCAGAATCTGTA 0.433000 11 34 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 123987800 123987800 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:123987800G>A ENST00000360013.3 + 5 788 c.661G>A c.(661-663)Gag>Aag p.E221K KALRN_ENST00000240874.3_Missense_Mutation_p.E221K|KALRN_ENST00000460856.1_Missense_Mutation_p.E221K NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 221 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.E221K(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TGTGGATGTGGAGGGCTCTCG 0.627000 5 33 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79173662 79173662 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr4:79173662C>A ENST00000264895.6 + 5 866 c.426C>A c.(424-426)ttC>ttA p.F142L FRAS1_ENST00000264899.6_Missense_Mutation_p.F142L|FRAS1_ENST00000325942.6_Missense_Mutation_p.F142L NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 142 VWFC 2. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 AGCTGGCATTCATCCCTGAAG 0.552000 8 30 0.00307968 0.00313347 1 1 0 NKIRAS1 28512 broad.mit.edu 37 3 23942314 23942314 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:23942314G>C ENST00000443659.2 - 3 1098 c.321C>G c.(319-321)ttC>ttG p.F107L NKIRAS1_ENST00000425478.2_Missense_Mutation_p.F107L|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.F107L|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.F107L|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.F107L|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.F107L|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.F107L|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.F107L Q9NYS0 KBRS1_HUMAN NFKB inhibitor interacting Ras-like 1 107 I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 7 TTTTGTCTTTGAACTTATCGA 0.318000 14 37 0 0 1 0 0 TAS2R9 50835 broad.mit.edu 37 12 10961883 10961883 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:10961883C>G ENST00000240691.2 - 1 884 c.792G>C c.(790-792)ttG>ttC p.L264F NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 264 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CACCAATCATCAACACTAATT 0.398000 6 67 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152278716 152278716 + Silent SNP C C T rs144057082 TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:152278716C>T ENST00000368799.1 - 3 8681 c.8646G>A c.(8644-8646)agG>agA p.R2882R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2882 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCTGCTTCTCCTGGACCCCT 0.577000 Ichthyosis 55 309 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31619409 31619409 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr14:31619409C>T ENST00000399332.1 - 13 2439 c.1951G>A c.(1951-1953)Gat>Aat p.D651N HECTD1_ENST00000553700.1_Missense_Mutation_p.D651N NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 651 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TCTTTAGCATCTTCCTGTGGT 0.323000 5 123 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184049736 184049736 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:184049736G>T ENST00000342981.4 + 31 4897 c.4483G>T c.(4483-4485)Gag>Tag p.E1495* EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.E1494*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.E1454*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.E1408*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.E1501*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.E1455*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.E1298*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.E1407*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.E1501*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.E1331*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.E1501*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.E1494*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.E1299*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.E1330* NM_182917.4 NP_886553 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1494 EIF4A-binding.|W2. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCTTGTAGTTGAGACTCCCCT 0.567000 8 57 2.17888e-05 2.23893e-05 1 1 0 VEPH1 79674 broad.mit.edu 37 3 157082155 157082155 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:157082155G>C ENST00000362010.2 - 8 1581 c.1274C>G c.(1273-1275)tCt>tGt p.S425C VEPH1_ENST00000543418.1_Missense_Mutation_p.S425C|VEPH1_ENST00000392833.2_Missense_Mutation_p.S425C|VEPH1_ENST00000392832.2_Missense_Mutation_p.S425C|RP11-550I24.2_ENST00000487238.1_RNA NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 425 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TCTTCTGATAGAGCCAGGGGT 0.348000 20 74 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90141837 90141837 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:90141837C>T ENST00000449207.2 - 2 134 c.115G>A c.(115-117)Gaa>Aaa p.E39K PRDM7_ENST00000569206.1_Intron|PRDM7_ENST00000407825.1_5'UTR NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 39 KRAB-related. chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) TCTGCCCATTCTTCCTTGGTG 0.418000 20 105 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38934788 38934788 + Splice_Site SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:38934788G>T ENST00000355481.4 + 6 555 c.e6-1 RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000359596.3_Splice_Site NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCCACCCATAGGAGAGGCTTG 0.612000 9 25 0.00829132 0.00838125 1 1 0 RADIL 55698 broad.mit.edu 37 7 4839833 4839833 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:4839833G>C ENST00000399583.3 - 13 3138 c.2951C>G c.(2950-2952)tCc>tGc p.S984C RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.S744C NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 984 PDZ. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CCCCAGCCCGGAGGGGCCTCG 0.692000 4 7 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7009287 7009287 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr18:7009287C>G ENST00000389658.3 - 27 4045 c.3952G>C c.(3952-3954)Gag>Cag p.E1318Q NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1318 Laminin IV type A 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGATGTACTCAATATCGCTG 0.373000 28 113 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232143160 232143160 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr2:232143160G>A ENST00000349938.4 + 16 1734 c.1540G>A c.(1540-1542)Gaa>Aaa p.E514K ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.4 NP_001258395.1|NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 514 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) TCTTGGCCATGAAAACCATGA 0.547000 5 57 0 0 1 0 0 TM9SF3 56889 broad.mit.edu 37 10 98312817 98312817 + Splice_Site SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:98312817C>G ENST00000371142.4 - 6 877 c.e6-1 NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) ACCAATGAATCTAAAATAACA 0.318000 14 30 0 0 1 0 0 CCDC57 284001 broad.mit.edu 37 17 80085706 80085706 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:80085706G>T ENST00000389641.4 - 17 2464 c.2428C>A c.(2428-2430)Ccc>Acc p.P810T CCDC57_ENST00000392346.2_Missense_Mutation_p.P167T|CCDC57_ENST00000392347.1_Missense_Mutation_p.P810T Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 810 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) GGGTGCTGGGGAGCCTGGGGT 0.567000 19 53 4.96729e-08 5.20755e-08 1 1 0 C11orf42 160298 broad.mit.edu 37 11 6231876 6231876 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:6231876C>T ENST00000316375.2 + 2 919 c.869C>T c.(868-870)tCa>tTa p.S290L NM_173525.2 NP_775796.2 Q8N5U0 CK042_HUMAN chromosome 11 open reading frame 42 290 Pro-rich. endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGATACTGTCAGGTACTACT 0.542000 7 22 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5154236 5154236 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:5154236C>G ENST00000252321.3 + 1 1152 c.923C>G c.(922-924)tCt>tGt p.S308C NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 308 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GCCCCGCCCTCTGGCCCTACG 0.706000 7 43 0 0 1 0 0 TRMT2B 79979 broad.mit.edu 37 X 100276965 100276965 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:100276965G>A ENST00000338687.7 - 8 1513 c.708C>T c.(706-708)ttC>ttT p.F236F TRMT2B_ENST00000372935.1_Silent_p.F281F|TRMT2B_ENST00000372939.1_Silent_p.F236F|TRMT2B_ENST00000372931.5_Silent_p.F281F|TRMT2B_ENST00000545398.1_Silent_p.F281F|TRMT2B_ENST00000372936.3_Silent_p.F281F Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 281 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 ACCTTTCCTGGAAGTAAAGTG 0.488000 26 5 0 0 1 0 0 ZW10 9183 broad.mit.edu 37 11 113604498 113604498 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr11:113604498G>A ENST00000200135.3 - 16 2402 c.2258C>T c.(2257-2259)tCt>tTt p.S753F NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 753 cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) TTCACTGGAAGAGAACGCAGC 0.413000 10 46 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35821053 35821053 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:35821053G>A ENST00000399989.1 + 2 1019 c.740G>A c.(739-741)aGa>aAa p.R247K MAGEB16_ENST00000399987.1_Missense_Mutation_p.R247K|MAGEB16_ENST00000399992.1_Missense_Mutation_p.R279K|MAGEB16_ENST00000399988.1_Missense_Mutation_p.R247K|MAGEB16_ENST00000399985.1_Missense_Mutation_p.R247K NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 247 MAGE. breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GGAGAGCCCAGAATGCTCATC 0.493000 14 20 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123538944 123538944 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chrX:123538944G>A ENST00000422452.2 - 27 5391 c.5328C>T c.(5326-5328)atC>atT p.I1776I TENM1_ENST00000371130.3_Silent_p.I1769I|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GCCGCCACTCGATGAGGTTTG 0.512000 28 39 0 0 1 0 0 KIFC3 3801 broad.mit.edu 37 16 57829018 57829018 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr16:57829018C>A ENST00000379655.4 - 3 465 c.208G>T c.(208-210)Gac>Tac p.D70Y KIFC3_ENST00000445690.2_Missense_Mutation_p.D70Y|KIFC3_ENST00000541240.1_Missense_Mutation_p.D92Y|KIFC3_ENST00000465878.2_5'UTR|KIFC3_ENST00000421376.2_5'UTR|KIFC3_ENST00000566975.1_5'UTR|KIFC3_ENST00000539578.1_5'UTR NM_005550.3 NP_005541.3 Q9BVG8 KIFC3_HUMAN kinesin family member C3 70 epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens ATP binding|microtubule motor activity breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(199;0.224) GCACTGGAGTCCTCGTCACCG 0.637000 5 19 0.014758 0.0148858 1 1 0 RFPL2 10739 broad.mit.edu 37 22 32587287 32587287 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr22:32587287G>A ENST00000400236.3 - 5 1544 c.339C>T c.(337-339)gaC>gaT p.D113D RFPL2_ENST00000400237.1_Silent_p.D203D|RFPL2_ENST00000248980.4_Silent_p.D142D|RFPL2_ENST00000248983.4_Silent_p.D113D|RFPL2_ENST00000489846.1_5'UTR NM_001098527.2 NP_001091997.2 O75678 RFPL2_HUMAN ret finger protein-like 2 203 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 TCCTGAGGTCGTCAGAAATGA 0.512000 38 40 0 0 1 0 0 SYNRG 11276 broad.mit.edu 37 17 35914035 35914035 + Nonsense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr17:35914035G>C ENST00000339208.6 - 14 1930 c.1790C>G c.(1789-1791)tCa>tGa p.S597* SYNRG_ENST00000346661.4_Nonsense_Mutation_p.S597*|SYNRG_ENST00000585472.1_Nonsense_Mutation_p.S518*|SYNRG_ENST00000591288.1_Nonsense_Mutation_p.S436*|SYNRG_ENST00000345615.4_Nonsense_Mutation_p.S519*|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Nonsense_Mutation_p.S519*|SYNRG_ENST00000394378.2_Nonsense_Mutation_p.S519* NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 597 Interaction with A1P1G1 and A1P1G2. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TATAGTTCCTGAGGGGAAGGA 0.418000 19 96 0 0 1 0 0 CCDC80 151887 broad.mit.edu 37 3 112324401 112324401 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:112324401G>A ENST00000206423.3 - 8 3669 c.2716C>T c.(2716-2718)Cag>Tag p.Q906* CCDC80_ENST00000439685.2_Nonsense_Mutation_p.Q906* NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 906 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 AGTGACTGCTGAATCGCCATT 0.483000 13 64 0 0 1 0 0 ZNF527 84503 broad.mit.edu 37 19 37870093 37870093 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:37870093G>C ENST00000436120.2 + 3 212 c.105G>C c.(103-105)caG>caC p.Q35H ZNF527_ENST00000483919.1_Missense_Mutation_p.Q35H|ZNF527_ENST00000589615.1_3'UTR|ZNF527_ENST00000587349.1_Missense_Mutation_p.Q35H NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 35 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGCCATCTCAGAAGGATTTAT 0.433000 5 111 0 0 1 0 0 TRAPPC5 126003 broad.mit.edu 37 19 7747484 7747484 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:7747484C>G ENST00000317378.5 + 2 532 c.345C>G c.(343-345)ttC>ttG p.F115L TRAPPC5_ENST00000426877.2_Missense_Mutation_p.F115L|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.F115L|TRAPPC5_ENST00000595985.1_Missense_Mutation_p.F48L|CTD-3214H19.16_ENST00000597959.1_3'UTR NM_174894.2 NP_777554.1 Q8IUR0 TPPC5_HUMAN trafficking protein particle complex 5 115 vesicle-mediated transport endoplasmic reticulum guanylate cyclase activity|heme binding NS(1)|lung(2) 3 CGCGCACCTTCTACATCATCG 0.632000 4 45 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26417354 26417354 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:26417354G>C ENST00000265944.5 + 20 2315 c.2149G>C c.(2149-2151)Gat>Cat p.D717H MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 717 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TGGCATTCTTGATATATTTGG 0.328000 15 78 0 0 1 0 0 ESRP1 54845 broad.mit.edu 37 8 95690516 95690516 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr8:95690516G>A ENST00000433389.2 + 13 1927 c.1737G>A c.(1735-1737)ttG>ttA p.L579L ESRP1_ENST00000454170.2_Silent_p.L579L|ESRP1_ENST00000423620.2_Silent_p.L575L|ESRP1_ENST00000358397.5_Silent_p.L575L NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 579 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 CTGTGATTTTGAATCCACGAG 0.512000 8 39 0 0 1 0 0 SLC7A9 11136 broad.mit.edu 37 19 33359434 33359434 + Missense_Mutation SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr19:33359434C>T ENST00000023064.4 - 2 198 c.7G>A c.(7-9)Gat>Aat p.D3N SLC7A9_ENST00000587772.1_Missense_Mutation_p.D3N|SLC7A9_ENST00000590341.1_Missense_Mutation_p.D3N NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 3 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) AGGCCAGTATCCCCCATGTTT 0.567000 21 125 0 0 1 0 0 C15orf26 161502 broad.mit.edu 37 15 81440798 81440798 + Missense_Mutation SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr15:81440798C>A ENST00000286732.4 + 7 913 c.830C>A c.(829-831)tCc>tAc p.S277Y NM_173528.2 NP_775799.2 Q6P656 CO026_HUMAN chromosome 15 open reading frame 26 277 endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1) 17 GCCTCGTCCTCCATGTTGGAT 0.542000 27 51 7.07758e-08 7.41158e-08 1 1 0 EZR 7430 broad.mit.edu 37 6 159210367 159210367 + Missense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:159210367C>G ENST00000367075.3 - 3 217 c.49G>C c.(49-51)Gag>Cag p.E17Q EZR_ENST00000392177.4_Missense_Mutation_p.E17Q|EZR_ENST00000476189.1_5'UTR|EZR_ENST00000337147.7_Missense_Mutation_p.E17Q NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 17 FERM. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) ATTGCAAACTCCAGCTCTGCA 0.388000 T ROS1 NSCLC 15 19 0 0 1 0 0 MDM2 4193 broad.mit.edu 37 12 69229748 69229748 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr12:69229748C>G ENST00000462284.1 + 9 1126 c.824C>G c.(823-825)tCa>tGa p.S275* MDM2_ENST00000540827.1_Nonsense_Mutation_p.S74*|MDM2_ENST00000258148.7_Nonsense_Mutation_p.S220*|MDM2_ENST00000350057.5_Nonsense_Mutation_p.S244*|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Nonsense_Mutation_p.S69*|MDM2_ENST00000360430.2_Nonsense_Mutation_p.S74*|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Nonsense_Mutation_p.S99*|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Nonsense_Mutation_p.S74*|MDM2_ENST00000356290.4_Nonsense_Mutation_p.S99*|MDM2_ENST00000258149.5_Nonsense_Mutation_p.S214*|MDM2_ENST00000393412.3_Intron NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 269 ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP (By similarity).|Region II. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) CAAGAACTCTCAGATGAAGAT 0.303000 A """sarcoma, glioma, colorectal, other""" 3 32 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174541 150174541 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr7:150174541G>A ENST00000307271.3 + 5 2245 c.1671G>A c.(1669-1671)acG>acA p.T557T NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 557 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CAGACTTTACGAAATACGCGA 0.493000 10 59 0 0 1 0 0 ZBTB46 140685 broad.mit.edu 37 20 62421739 62421739 + Silent SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr20:62421739G>A ENST00000245663.4 - 2 522 c.372C>T c.(370-372)ttC>ttT p.F124F ZBTB46_ENST00000395104.1_Silent_p.F124F|ZBTB46_ENST00000302995.2_Silent_p.F124F NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CCGCCTTGATGAAGTCGTGGC 0.612000 7 24 0 0 1 0 0 FAM208A 23272 broad.mit.edu 37 3 56683046 56683046 + Missense_Mutation SNP G G T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr3:56683046G>T ENST00000431842.2 - 5 1144 c.220C>A c.(220-222)Ctt>Att p.L74I FAM208A_ENST00000355628.5_Missense_Mutation_p.L470I|FAM208A_ENST00000493960.2_Missense_Mutation_p.L470I NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 470 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 GGGGAGAGAAGAAAAAGGTAT 0.353000 8 61 7.48243e-07 7.80921e-07 1 1 0 AHCTF1 25909 broad.mit.edu 37 1 247048847 247048848 + Frame_Shift_Ins INS - - T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr1:247048847_247048848insT ENST00000366508.1 - 21 2848_2849 c.2712_2713insA c.(2710-2715)acagtgfs p.V905fs AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Frame_Shift_Ins_p.V870fs|AHCTF1_ENST00000326225.3_Frame_Shift_Ins_p.V879fs Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 870 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CCACTGGACACTGTTGGCTTCA 0.376 33 32 --- --- --- --- PAQR8 85315 broad.mit.edu 37 6 52268876 52268876 + Frame_Shift_Del DEL C C - TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr6:52268876delC ENST00000442253.2 + 2 1039 c.865delC c.(865-867)ctgfs p.L289fs PAQR8_ENST00000360726.3_Frame_Shift_Del_p.L289fs NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 289 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) CCATGCATTTCTGTCCATCTG 0.577 12 58 --- --- --- --- ADAMTS14 140766 broad.mit.edu 37 10 72513604 72513604 + Frame_Shift_Del DEL G G - TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4a9d45e-ad58-43cb-94c5-c105dbbf4039 20d9afb2-1c93-407c-b1c3-8e49a772a0cb g.chr10:72513604delG ENST00000373208.1 + 19 2787 c.2787delG c.(2785-2787)ctgfs p.L929fs ADAMTS14_ENST00000373207.1_Frame_Shift_Del_p.L926fs NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 926 TSP type-1 3. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 GTGGGAAGCTGGGGGTGCAGA 0.662 2 4 --- --- --- ---