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 CEP170P1 0 broad.mit.edu 37 4 119473413 119473413 + RNA SNP A A G TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr4:119473413A>G ENST00000412784.2 + 0 644 NR_003135.2 TCTATCTTACAGGAACTGAAA 0.318000 6 10 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 6 270 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76570856 76570856 + Missense_Mutation SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr17:76570856C>T ENST00000389840.5 - 2 408 c.284G>A c.(283-285)cGg>cAg p.R95Q DNAH17_ENST00000585328.1_Missense_Mutation_p.R95Q dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GTAAAGGAGCCGGGCCCTGTA 0.597000 5 161 0 0 1 0 0 ALG1L13P 0 broad.mit.edu 37 8 8096026 8096026 + RNA SNP T T G TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr8:8096026T>G ENST00000523017.1 - 0 608 TGACCCCTGATGCATAGCCCT 0.667000 4 16 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40730876 40730876 + Missense_Mutation SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr20:40730876C>T ENST00000373198.3 - 27 3903 c.3668G>A c.(3667-3669)cGg>cAg p.R1223Q PTPRT_ENST00000373193.3_Missense_Mutation_p.R1204Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1191Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1201Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1210Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1211Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1200Q NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1201 Tyrosine-protein phosphatase 2. 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) ATCATGGTTCCGGGGCAGGAG 0.557000 37 81 0 0 1 0 0 SRP19 6728 broad.mit.edu 37 5 112198213 112198213 + Missense_Mutation SNP G G T rs77541650 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr5:112198213G>T ENST00000505459.1 + 2 205 c.50G>T c.(49-51)tGt>tTt p.C17F SRP19_ENST00000515463.1_Intron|SRP19_ENST00000512790.1_3'UTR|SRP19_ENST00000282999.3_Missense_Mutation_p.C17F|CTC-554D6.1_ENST00000520401.1_Missense_Mutation_p.L88F NM_001204193.1|NM_003135.2 NP_001191122.1|NP_003126.1 P09132 SRP19_HUMAN signal recognition particle 19kDa 17 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding breast(1)|cervix(1)|large_intestine(1) 3 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) AGGTTTATTTGTATCTATCCT 0.458000 4 35 0.00116845 0.00122356 1 1 0 NCOR2 9612 broad.mit.edu 37 12 124887093 124887093 + Silent SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr12:124887093C>T ENST00000356219.3 - 15 1652 c.1497G>A c.(1495-1497)caG>caA p.Q499Q NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 499 Poly-Gln. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity p.Q499Q(9) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) gctgctgctgctgttgttgct 0.617000 3 30 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957624 12957624 + Missense_Mutation SNP C C G TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr8:12957624C>G ENST00000276297.4 - 9 2631 c.2222G>C c.(2221-2223)aGc>aCc p.S741T DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 741 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTGCTGCTGCTGGTCTGCGT 0.627000 5 96 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 97 0 0 1 0 0 KRTAP19-6 337973 broad.mit.edu 37 21 31914007 31914007 + Missense_Mutation SNP C C T rs146590456 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr21:31914007C>T ENST00000334046.5 - 1 176 c.146G>A c.(145-147)cGt>cAt p.R49H NM_181612.2 NP_853643.1 Q3LI70 KR196_HUMAN keratin associated protein 19-6 49 intermediate filament p.R49H(1) breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 9 ATATCCTTCACGGCATGATGG 0.493000 133 161 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63852608 63852608 + Missense_Mutation SNP G G C TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr10:63852608G>C ENST00000279873.7 + 10 3796 c.3386G>C c.(3385-3387)gGa>gCa p.G1129A ARID5B_ENST00000309334.5_Missense_Mutation_p.G886A NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1129 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) ATGCAAAGAGGAATTTTTACA 0.478000 6 143 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149500558 149500558 + Missense_Mutation SNP G G C rs67186817 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr5:149500558G>C ENST00000261799.4 - 18 2948 c.2479C>G c.(2479-2481)Ctg>Gtg p.L827V NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 827 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CTAGCCGCCAGGTCTCTGTGG 0.542000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 35 46 0 0 1 0 0 FDX1 2230 broad.mit.edu 37 11 110327746 110327746 + Missense_Mutation SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr11:110327746G>A ENST00000260270.2 + 3 653 c.415G>A c.(415-417)Gat>Aat p.D139N NM_004109.4 NP_004100.1 P10109 ADX_HUMAN ferredoxin 1 139 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding lung(2) 2 all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228) Mitotane(DB00648) TGACATGCTCGATCTGGCATA 0.383000 10 80 0 0 1 0 0 TRA2B 6434 broad.mit.edu 37 3 185643403 185643403 + Missense_Mutation SNP C C G TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr3:185643403C>G ENST00000453386.2 - 3 457 c.182G>C c.(181-183)aGa>aCa p.R61T TRA2B_ENST00000382191.4_5'UTR NM_004593.2 NP_004584.1 P62995 TRA2B_HUMAN transformer 2 beta homolog (Drosophila) 61 Arg/Ser-rich (RS1 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 GGAGCTTCTTCTGGATCTAGA 0.458000 11 67 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43772665 43772665 + Splice_Site SNP G G T rs34084603 byFrequency TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr1:43772665G>T ENST00000372476.3 + 4 718 c.640_splice c.e4+1 p.R213_splice TIE1_ENST00000538015.1_Splice_Site_p.R213_splice|TIE1_ENST00000441333.2_Splice_Site_p.R213_splice NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 213 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCATCGTGCGGGGTCAGAGGC 0.637000 5 142 0.00116845 0.00122356 1 1 0 TBC1D17 79735 broad.mit.edu 37 19 50384528 50384528 + Missense_Mutation SNP C C G TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr19:50384528C>G ENST00000221543.5 + 5 622 c.323C>G c.(322-324)gCa>gGa p.A108G TBC1D17_ENST00000598789.1_Intron|TBC1D17_ENST00000535102.2_Missense_Mutation_p.A75G NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 108 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) TCCCTAGGTGCAGAGCCCAGC 0.632000 3 25 0 0 1 0 0 VPS28 51160 broad.mit.edu 37 8 145649436 145649436 + Missense_Mutation SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr8:145649436G>A ENST00000377348.2 - 9 625 c.536C>T c.(535-537)aCg>aTg p.T179M VPS28_ENST00000526054.1_Missense_Mutation_p.T179M|VPS28_ENST00000529182.1_Missense_Mutation_p.T179M|VPS28_ENST00000292510.4_Missense_Mutation_p.T179M NM_183057.1 NP_898880.1 Q9UK41 VPS28_HUMAN vacuolar protein sorting 28 homolog (S. cerevisiae) 179 VPS28 C-terminal. cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport cytosol|late endosome membrane|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CTGGCTGACCGTCTGGCGGCC 0.692000 10 291 0 0 1 0 0 CPSF3L 54973 broad.mit.edu 37 1 1248278 1248278 + Missense_Mutation SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr1:1248278C>T ENST00000540437.1 - 14 1656 c.1201G>A c.(1201-1203)Gcc>Acc p.A401T CPSF3L_ENST00000411962.1_Missense_Mutation_p.A297T|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000450926.2_Missense_Mutation_p.A373T|CPSF3L_ENST00000435064.1_Missense_Mutation_p.A395T|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A294T|CPSF3L_ENST00000545578.1_Missense_Mutation_p.A366T|CPSF3L_ENST00000421495.2_Missense_Mutation_p.A137T NM_001256456.1 NP_001243385.1 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 3-like 395 Golgi apparatus|nucleus hydrolase activity endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3) 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;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) ATGCCCTTGGCGTCCGCGTGT 0.617000 50 51 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954710 30954710 + Missense_Mutation SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr6:30954710G>A ENST00000376296.3 + 2 999 c.758G>A c.(757-759)gGc>gAc p.G253D MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 253 28 X 15 AA approximate tandem repeats.|Ser-rich. G -> S (in dbSNP:rs41288655). integral to membrane|plasma membrane p.G253D(1) 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 AGTGGGGCCGGCACAGCCACC 0.637000 9 1505 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577550 7577550 + Missense_Mutation SNP C C T rs28934572 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr17:7577550C>T ENST00000420246.2 - 7 863 c.731G>A c.(730-732)gGc>gAc p.G244D TP53_ENST00000269305.4_Missense_Mutation_p.G244D|TP53_ENST00000413465.2_Missense_Mutation_p.G244D|TP53_ENST00000455263.2_Missense_Mutation_p.G244D|TP53_ENST00000445888.2_Missense_Mutation_p.G244D|TP53_ENST00000359597.4_Missense_Mutation_p.G244D NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 244 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (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.G244D(47)|p.G244V(14)|p.G244A(9)|p.0?(8)|p.?(5)|p.G151D(4)|p.G244fs*4(3)|p.G244_M246>V(3)|p.G244fs*19(1)|p.G151_M153>V(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(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) GTTCATGCCGCCCATGCAGGA 0.577000 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) 54 2 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215823955 215823955 + Missense_Mutation SNP G G C rs147037435 byFrequency TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr1:215823955G>C ENST00000366943.2 - 65 14708 c.14322C>G c.(14320-14322)agC>agG p.S4774R USH2A_ENST00000307340.3_Missense_Mutation_p.S4774R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4774 Fibronectin type-III 33. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCCCATGGGCGCTGCTGGAGA 0.483000 HNSCC(13;0.011) 5 155 0 0 1 0 0 KRT72 140807 broad.mit.edu 37 12 52985408 52985408 + Missense_Mutation SNP A A C TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr12:52985408A>C ENST00000293745.2 - 5 888 c.803T>G c.(802-804)aTc>aGc p.I268S KRT72_ENST00000354310.4_Missense_Mutation_p.I268S|KRT72_ENST00000398066.3_Missense_Mutation_p.I80S|KRT72_ENST00000537672.2_Missense_Mutation_p.I268S NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 268 Coil 1B.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) GATCTGAGTGATCTCCTGGGG 0.577000 14 88 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48494835 48494835 + Missense_Mutation SNP T T G TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr7:48494835T>G ENST00000435803.1 + 43 12791 c.12767T>G c.(12766-12768)cTc>cGc p.L4256R ABCA13_ENST00000544596.1_Missense_Mutation_p.L16R NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4256 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TACCCTCCCCTCAGACTCACA 0.542000 4 35 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 2339 2339 + RNA SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chrM:2339G>A ENST00000387347.2 + 0 669 NR_039705.1 TCCTCCGCATAAGCCTGCGTC 0.393000 194 148 0 0 1 0 0 PCDHGA10 0 broad.mit.edu 37 5 140793312 140793312 + Silent SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr5:140793312C>T ENST00000398610.2 + 1 570 c.570C>T c.(568-570)gcC>gcT p.A190A PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGCCGTGCCAATGGCGTCA 0.597000 19 35 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50959892 50959892 + Missense_Mutation SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr10:50959892G>A ENST00000374103.4 - 6 815 c.730C>T c.(730-732)Cgg>Tgg p.R244W OGDHL_ENST00000432695.1_Missense_Mutation_p.R35W|OGDHL_ENST00000419399.1_Missense_Mutation_p.R187W NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 244 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R244R(1) central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CGCACTAGCCGGGCCAGCAGG 0.612000 95 91 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26627888 26627888 + Silent SNP G G A rs143947423 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr8:26627888G>A ENST00000380573.3 - 3 2202 c.1179C>T c.(1177-1179)ggC>ggT p.G393G ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_Silent_p.G393G|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Silent_p.G393G|ADRA1A_ENST00000354550.4_Silent_p.G393G|ADRA1A_ENST00000276393.4_Silent_p.G393G|ADRA1A_ENST00000380586.1_Silent_p.G393G P35348 ADA1A_HUMAN adrenoceptor alpha 1A 393 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) ATTCACAAACGCCATCCGTCT 0.552000 104 102 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3638132 3638132 + Silent SNP C C T rs149392793 by1000genomes TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr17:3638132C>T ENST00000263087.4 - 21 2732 c.2634G>A c.(2632-2634)ctG>ctA p.L878L ITGAE_ENST00000571185.1_5'UTR NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 878 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) TCTTCAACTGCAGGTTTCTGG 0.542000 114 17 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1093292 1093292 + Missense_Mutation SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr11:1093292C>T ENST00000441003.2 + 30 5138 c.5111C>T c.(5110-5112)aCc>aTc p.T1704I MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1671I NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1695 Approximate repeats. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) atcaccaccaccactacggtg 0.637000 4 20 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49395266 49395266 + Silent SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr10:49395266G>A ENST00000374201.3 - 17 2537 c.2235C>T c.(2233-2235)ctC>ctT p.L745L FRMPD2_ENST00000407470.4_Silent_p.L713L|FRMPD2_ENST00000305531.3_Silent_p.L720L NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 745 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GTGGTCCAGAGAGAGAGTCCC 0.562000 14 35 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 2174 2174 + RNA SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chrM:2174G>A ENST00000387347.2 + 0 504 NR_039705.1 CACCCATAGTAGGCCTAAAAG 0.393000 74 217 0 0 1 0 0 TSSC1 7260 broad.mit.edu 37 2 3341870 3341870 + Silent SNP G G T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr2:3341870G>T ENST00000398659.4 - 3 317 c.177C>A c.(175-177)gtC>gtA p.V59V TSSC1_ENST00000382125.4_Silent_p.V59V|TSSC1_ENST00000443925.2_Silent_p.V59V Q53HC9 TSSC1_HUMAN tumor suppressing subtransferable candidate 1 59 protein binding breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 18 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) GATGGAGGAGGACATTTTTAT 0.413000 38 1 3.93418e-24 4.502e-24 1 1 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 3 33 0 0 1 0 0 GSG2 83903 broad.mit.edu 37 17 3627230 3627230 + Translation_Start_Site SNP A A G TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr17:3627230A>G ENST00000325418.4 + 1 20 c.1A>G c.(1-3)Atg>Gtg p.M1V ITGAE_ENST00000263087.4_Intron NM_031965.2 NP_114171.2 Q8TF76 HASP_HUMAN germ cell associated 2 (haspin) 1 cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity GGTGCCGGCCATGGCGGCTTC 0.731000 35 4 0 0 1 0 0 C1RL 51279 broad.mit.edu 37 12 7249404 7249404 + Silent SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr12:7249404G>A ENST00000266542.4 - 6 1139 c.1047C>T c.(1045-1047)atC>atT p.I349I C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron NM_016546.2 NP_057630.2 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 349 Peptidase S1. I -> M (in Ref. 3; BAD96522). complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GGCCCAGGGGGATGCTGTGCT 0.612000 5 71 0 0 1 0 0 ZFP36L2 678 broad.mit.edu 37 2 43452192 43452192 + Missense_Mutation SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr2:43452192G>A ENST00000282388.3 - 2 1044 c.751C>T c.(751-753)Cgg>Tgg p.R251W THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 251 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) AACTTGGGCCGCGGCTCCCGC 0.761000 29 22 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136575373 136575373 + Silent SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr2:136575373C>T ENST00000264162.2 - 6 1255 c.1245G>A c.(1243-1245)agG>agA p.R415R NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 415 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TGTTCAGGGGCCTGCGTGGAT 0.652000 61 94 0 0 1 0 0 MAN2C1 4123 broad.mit.edu 37 15 75654730 75654730 + Missense_Mutation SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr15:75654730G>A ENST00000565683.1 - 8 973 c.962C>T c.(961-963)gCg>gTg p.A321V MAN2C1_ENST00000563622.1_Missense_Mutation_p.A222V|MAN2C1_ENST00000267978.5_Missense_Mutation_p.A321V|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A321V NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 321 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 CCCACGGCACGCAAACTCCTG 0.612000 4 31 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21084273 21084273 + Missense_Mutation SNP C C A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr22:21084273C>A ENST00000255882.6 - 37 4401 c.4315G>T c.(4315-4317)Gac>Tac p.D1439Y PI4KA_ENST00000572273.1_Missense_Mutation_p.D1381Y|PI4KA_ENST00000414196.3_Missense_Mutation_p.D191Y NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1381 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) ACAGTTATGTCCAGGTTGCTC 0.493000 28 33 1.42536e-11 1.59813e-11 1 1 0 FCRL3 115352 broad.mit.edu 37 1 157660318 157660318 + Missense_Mutation SNP C C G rs143813895 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr1:157660318C>G ENST00000368184.3 - 9 1708 c.1417G>C c.(1417-1419)Gtg>Ctg p.V473L FCRL3_ENST00000368186.5_Missense_Mutation_p.V473L|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 473 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) GGGCGAGACACCGGAACTGAG 0.537000 10 113 0 0 1 0 0 SMC1A 8243 broad.mit.edu 37 X 53432009 53432009 + Missense_Mutation SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chrX:53432009G>A ENST00000322213.4 - 13 2258 c.2131C>T c.(2131-2133)Cgg>Tgg p.R711W SMC1A_ENST00000375340.6_Missense_Mutation_p.R477W NM_006306.2 NP_006297.2 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 711 R -> Q (in CDLS2).|R -> W (in CDLS2). cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity p.R711W(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 TACTTGAGCCGCATCTGCAGT 0.562000 21 4 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7725547 7725547 + Missense_Mutation SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr4:7725547G>A ENST00000507866.2 + 19 2657 c.2548G>A c.(2548-2550)Gtg>Atg p.V850M SORCS2_ENST00000329016.9_Missense_Mutation_p.V678M NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 850 PKD. integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 CATCTACCGCGTGTCCGTCAG 0.602000 81 73 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42164751 42164751 + Missense_Mutation SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr20:42164751C>T ENST00000444063.1 + 15 1802 c.1670C>T c.(1669-1671)cCt>cTt p.P557L L3MBTL1_ENST00000427442.2_Missense_Mutation_p.P625L|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.P562L|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.P557L|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.P625L Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 557 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 TGCCCCACTCCTGGTTGCGAC 0.597000 5 63 0 0 1 0 0 RAB25 57111 broad.mit.edu 37 1 156039516 156039516 + Missense_Mutation SNP A A G TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr1:156039516A>G ENST00000361084.5 + 4 729 c.488A>G c.(487-489)gAg>gGg p.E163G RAB25_ENST00000487325.1_3'UTR NM_020387.2 NP_065120.2 P57735 RAB25_HUMAN RAB25, member RAS oncogene family 163 positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|pseudopodium membrane GTP binding|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 Hepatocellular(266;0.158)|all_neural(408;0.195) ACCAATGTTGAGCTAGCCTTT 0.498000 11 470 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141044588 141044588 + Missense_Mutation SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr5:141044588C>T ENST00000239440.4 - 19 2766 c.2701G>A c.(2701-2703)Gcg>Acg p.A901T ARAP3_ENST00000508305.1_Missense_Mutation_p.A803T|ARAP3_ENST00000513878.1_Missense_Mutation_p.A563T|ARAP3_ENST00000512390.1_5'UTR NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 901 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CCACCAGCCGCGCCCCCAATG 0.637000 OREG0016871 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 22 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57589461 57589461 + Missense_Mutation SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr12:57589461G>A ENST00000243077.3 + 53 8924 c.8458G>A c.(8458-8460)Gac>Aac p.D2820N NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2820 LDL-receptor class A 18. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CACTTGTGACGACCGTGAGTT 0.602000 38 40 0 0 1 0 0 BCAS1 8537 broad.mit.edu 37 20 52612494 52612494 + Translation_Start_Site SNP G G A rs146823292 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr20:52612494G>A ENST00000434986.2 - 0 242 BCAS1_ENST00000395961.3_Silent_p.D273D|BCAS1_ENST00000371440.3_Silent_p.D273D|BCAS1_ENST00000371435.2_Silent_p.D273D O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CCTGGGAATCGTCCTTTGCAG 0.463000 39 80 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262055 45262055 + Missense_Mutation SNP C C A rs56377228 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr5:45262055C>A ENST00000303230.4 - 8 2698 c.2641G>T c.(2641-2643)Gca>Tca p.A881S NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 881 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GGCTTTTCTGCGTCTGGGTCT 0.473000 11 164 0.000151284 0.000161467 1 1 0 RP11-262H14.1 0 broad.mit.edu 37 9 66466165 66466165 + RNA SNP T T C TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr9:66466165T>C ENST00000424345.1 + 0 798 GTTTGAAGAATTGTACATGGT 0.393000 4 12 0 0 1 0 0 GRIN2A 0 broad.mit.edu 37 16 9934842 9934842 + Missense_Mutation SNP C C A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr16:9934842C>A ENST00000396573.2 - 7 1757 c.1448G>T c.(1447-1449)gGg>gTg p.G483V GRIN2A_ENST00000330684.3_Missense_Mutation_p.G483V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G483V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G483V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G483V|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G326V NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 483 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCCATGCTTCCCATTGGTCAC 0.428000 37 109 5.43694e-19 6.15816e-19 1 1 0 WASF3 10810 broad.mit.edu 37 13 27257060 27257060 + Nonsense_Mutation SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr13:27257060C>T ENST00000361042.4 + 9 1516 c.1291C>T c.(1291-1293)Cag>Tag p.Q431* WASF3_ENST00000335327.5_Nonsense_Mutation_p.Q434* Q9UPY6 WASF3_HUMAN WAS protein family, member 3 434 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) AGAGCCTGCACAGCCACCAAT 0.612000 5 135 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64112227 64112227 + Silent SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr11:64112227G>A ENST00000356786.5 + 14 2258 c.2214G>A c.(2212-2214)agG>agA p.R738R CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 738 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CACAGTTGAGGAGAAAGGCTG 0.652000 4 37 0 0 1 0 0 OTUB1 55611 broad.mit.edu 37 11 63764986 63764986 + Missense_Mutation SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr11:63764986C>T ENST00000541478.1 + 4 941 c.481C>T c.(481-483)Cgg>Tgg p.R161W OTUB1_ENST00000428192.2_Missense_Mutation_p.R262W|OTUB1_ENST00000543988.1_Missense_Mutation_p.R232W|OTUB1_ENST00000422031.2_Missense_Mutation_p.R299W|OTUB1_ENST00000535715.1_Intron|OTUB1_ENST00000543004.1_Missense_Mutation_p.R271W|OTUB1_ENST00000538426.1_Missense_Mutation_p.R262W Q96FW1 OTUB1_HUMAN OTU domain, ubiquitin aldehyde binding 1 262 OTU. protein K48-linked deubiquitination cytoplasm NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 6 CCTTCTCTACCGGCCTGGACA 0.617000 58 109 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11274 11274 + Missense_Mutation SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chrM:11274G>A ENST00000361381.2 + 1 515 c.515G>A c.(514-516)gGc>gAc p.172_172insD mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 CAACACCCTAGGCTCACTAAA 0.448000 404 8 0 0 1 0 0 NOC4L 79050 broad.mit.edu 37 12 132633385 132633385 + Silent SNP G G A rs144597773 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr12:132633385G>A ENST00000330579.1 + 9 887 c.846G>A c.(844-846)ccG>ccA p.P282P NOC4L_ENST00000535343.1_3'UTR NM_024078.1 NP_076983.1 Q9BVI4 NOC4L_HUMAN nucleolar complex associated 4 homolog (S. cerevisiae) 282 rRNA processing integral to membrane|nuclear membrane|nucleolus protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2) 14 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05) CCATCCTGCCGCAGCTGGCGC 0.701000 19 17 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418191 105418191 + Silent SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr14:105418191G>A ENST00000333244.5 - 7 3716 c.3597C>T c.(3595-3597)ctC>ctT p.L1199L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1199 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCATGGAGGGGAGACTCACGT 0.632000 6 484 0 0 1 0 0 LYZL4 131375 broad.mit.edu 37 3 42448441 42448441 + Silent SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr3:42448441G>A ENST00000287748.3 - 3 464 c.189C>T c.(187-189)taC>taT p.Y63Y LYZL4_ENST00000441172.1_Silent_p.Y63Y|LYZL4_ENST00000470991.1_5'UTR NM_144634.2 NP_653235.1 Q96KX0 LYZL4_HUMAN lysozyme-like 4 63 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1)|endometrium(1)|lung(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.222) GTGTGTTCTCGTAGATGGCCA 0.552000 34 56 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 86001097 86001097 + Missense_Mutation SNP G G C TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr10:86001097G>C ENST00000372105.3 - 1 120 c.99C>G c.(97-99)atC>atG p.I33M NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 33 LRRNT. integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 CATCACCCATGATATGGAGGC 0.642000 6 64 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404416 20404416 + Silent SNP T T C TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr14:20404416T>C ENST00000285600.4 + 1 650 c.591T>C c.(589-591)atT>atC p.I197I NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 197 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) AAATGGAAATTATGACCCTAA 0.453000 3 38 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154318722 154318722 + Missense_Mutation SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr1:154318722C>T ENST00000368489.3 + 25 2893 c.2893C>T c.(2893-2895)Cgg>Tgg p.R965W NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 951 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCCCGAGCAGCGGAGCATGGA 0.577000 101 105 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5760801 5760801 + Missense_Mutation SNP C C A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr7:5760801C>A ENST00000425013.2 - 9 1560 c.1336G>T c.(1336-1338)Gac>Tac p.D446Y RNF216_ENST00000389902.3_Missense_Mutation_p.D503Y NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 446 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) ATTTTTATGTCACCTAGAAGA 0.458000 4 62 0.00909568 0.00926257 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 4 0 0 0 1 0 0 MT-CO2 4513 broad.mit.edu 37 MT 8226 8226 + Missense_Mutation SNP T T C TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chrM:8226T>C ENST00000361739.1 + 1 641 c.641T>C c.(640-642)aTt>aCt p.I214T mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 CCTAGAATTAATTCCCCTAAA 0.463000 8 317 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846759 55846759 + Missense_Mutation SNP C C G TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr12:55846759C>G ENST00000322678.1 + 1 762 c.762C>G c.(760-762)atC>atG p.I254M RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 GAAGCTGCATCTTCATCTATA 0.423000 26 69 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) 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) agcagcagcagcaacaacagc 0.562000 4 111 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151845550 151845550 + Missense_Mutation SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr7:151845550C>T ENST00000355193.2 - 53 13851 c.13633G>A c.(13633-13635)Gcc>Acc p.A4545T KMT2C_ENST00000262189.6_Missense_Mutation_p.A4488T lysine (K)-specific methyltransferase 2C GCTTTAATGGCGCAAGTGAAG 0.423000 82 88 0 0 1 0 0 DMTN 2039 broad.mit.edu 37 8 21931326 21931326 + Missense_Mutation SNP A A C TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr8:21931326A>C ENST00000358242.3 + 10 1308 c.815A>C c.(814-816)gAc>gCc p.D272A DMTN_ENST00000265800.5_Missense_Mutation_p.D272A|DMTN_ENST00000517600.1_Missense_Mutation_p.D232A|DMTN_ENST00000381470.3_Missense_Mutation_p.D272A|DMTN_ENST00000523782.2_Missense_Mutation_p.D247A|DMTN_ENST00000443491.2_Missense_Mutation_p.D247A|DMTN_ENST00000415253.1_Missense_Mutation_p.D272A|DMTN_ENST00000523266.1_Missense_Mutation_p.D272A|DMTN_ENST00000432128.1_Missense_Mutation_p.D272A|DMTN_ENST00000519907.1_Missense_Mutation_p.D272A dematin actin binding protein TCTCTGCCTGACCGGACACCC 0.522000 28 67 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 68084769 68084769 + Missense_Mutation SNP T T G TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr8:68084769T>G ENST00000262210.5 + 23 2963 c.2932T>G c.(2932-2934)Ttt>Gtt p.F978V CSPP1_ENST00000412460.1_Missense_Mutation_p.F633V|CSPP1_ENST00000521168.1_3'UTR NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 1013 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TGTTCATGATTTTAATGAGCT 0.388000 12 27 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 14760 14760 + Missense_Mutation SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chrM:14760G>A ENST00000361789.2 + 1 14 c.14G>A c.(13-15)cGc>cAc p.5_5insH mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 GACCCCAATACGCAAAATTAA 0.423000 213 153 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160999636 160999636 + Nonsense_Mutation SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr6:160999636G>A ENST00000447678.1 - 28 4510 c.4390C>T c.(4390-4392)Cga>Tga p.R1464* LPA_ENST00000316300.5_Nonsense_Mutation_p.R1464* NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3972 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ACTGGACATCGTGTCAGGTTG 0.527000 78 86 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25304703 25304703 + RNA SNP C C G TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr15:25304703C>G ENST00000549804.2 + 0 98 SNHG14_ENST00000384733.1_RNA GATGAGTCCCCCCAAAAAAAC 0.512000 93 29 0 0 1 0 0 ZNF345 25850 broad.mit.edu 37 19 37367691 37367691 + Translation_Start_Site SNP T T G TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr19:37367691T>G ENST00000529555.1 + 0 747 ZNF345_ENST00000526123.1_De_novo_Start_OutOfFrame|ZNF345_ENST00000589046.1_De_novo_Start_OutOfFrame|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_De_novo_Start_OutOfFrame Q14585 ZN345_HUMAN zinc finger protein 345 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTCAGACTATGAATCAAAGT 0.303000 21 37 0 0 1 0 0 PCDHB18 0 broad.mit.edu 37 5 140615827 140615827 + RNA SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr5:140615827C>T ENST00000526308.1 + 0 1890 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 CGCTGCAGAACGGCTCGGCGC 0.711000 88 108 0 0 1 0 0 FASTKD5 60493 broad.mit.edu 37 20 3128656 3128656 + Missense_Mutation SNP C C A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr20:3128656C>A ENST00000380266.3 - 2 1382 c.1061G>T c.(1060-1062)cGc>cTc p.R354L UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 354 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 CACTAAGGAGCGACTACTCAG 0.403000 10 103 2.80697e-09 3.11574e-09 1 1 0 RNF216 54476 broad.mit.edu 37 7 5752492 5752492 + Missense_Mutation SNP C C A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr7:5752492C>A ENST00000425013.2 - 12 1889 c.1665G>T c.(1663-1665)ttG>ttT p.L555F RNF216_ENST00000389902.3_Missense_Mutation_p.L612F NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 555 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) AGCTGAGCTCCAACTAGAAAA 0.423000 6 54 0.217242 0.217242 1 1 0 SCN2A 6326 broad.mit.edu 37 2 166165867 166165867 + Missense_Mutation SNP T T A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr2:166165867T>A ENST00000375437.2 + 6 901 c.611T>A c.(610-612)gTg>gAg p.V204E SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000283256.6_Missense_Mutation_p.V204E|SCN2A_ENST00000375427.2_Intron NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 204 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TACAGATATGTGACAGAGTTT 0.428000 35 22 0 0 1 0 0 ARSB 411 broad.mit.edu 37 5 78280984 78280984 + Silent SNP G G A TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr5:78280984G>A ENST00000264914.4 - 1 624 c.88C>T c.(88-90)Ctg>Ttg p.L30L ARSB_ENST00000565165.1_Silent_p.L30L|ARSB_ENST00000396151.3_Silent_p.L30L NM_000046.3 NP_000037.2 P15848 ARSB_HUMAN arylsulfatase B 30 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) gccAACAACAGCAGCAGCAGC 0.751000 4 22 0 0 1 0 0 SGMS2 166929 broad.mit.edu 37 4 108816771 108816771 + Missense_Mutation SNP C C A rs17038204 byFrequency TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr4:108816771C>A ENST00000394684.4 + 3 619 c.62C>A c.(61-63)aCg>aAg p.T21K RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000394686.3_Missense_Mutation_p.T21K|SGMS2_ENST00000359079.4_Missense_Mutation_p.T21K|RP11-286E11.1_ENST00000513071.1_RNA NM_001136258.1 NP_001129730.1 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 21 T -> M (in dbSNP:rs17038204). 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) AGTGATCCTACGAACACTTAT 0.423000 11 125 3.07112e-06 3.3421e-06 1 1 0 IFI16 3428 broad.mit.edu 37 1 159002348 159002348 + Missense_Mutation SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr1:159002348C>T ENST00000295809.7 + 7 1451 c.1196C>T c.(1195-1197)cCc>cTc p.P399L IFI16_ENST00000430894.2_Missense_Mutation_p.P347L|IFI16_ENST00000448393.2_Missense_Mutation_p.P399L|IFI16_ENST00000368131.4_Missense_Mutation_p.P399L|IFI16_ENST00000340979.6_Missense_Mutation_p.P399L|IFI16_ENST00000368132.3_Missense_Mutation_p.P399L|IFI16_ENST00000359709.3_Missense_Mutation_p.P343L Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 399 cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) AACAATGACCCCAAGAGCATG 0.428000 31 40 0 0 1 0 0 GLYCTK 132158 broad.mit.edu 37 3 52324395 52324395 + Nonsense_Mutation SNP C C T TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr3:52324395C>T ENST00000354773.4 + 2 133 c.37C>T c.(37-39)Cga>Tga p.R13* GLYCTK_ENST00000477382.1_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000436784.2_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000473032.1_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000305690.8_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000471180.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA NM_001144951.1 NP_001138423.1 Q8IVS8 GLCTK_HUMAN glycerate kinase 13 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) CCGCTTGGCCCGAGCCCCCTT 0.657000 28 4 0 0 1 0 0 KCNAB2 8514 broad.mit.edu 37 1 6149094 6149094 + Frame_Shift_Del DEL G G - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr1:6149094delG ENST00000164247.1 + 9 962 c.398delG c.(397-399)agfs p.R133fs KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378092.1_Frame_Shift_Del_p.R119fs|KCNAB2_ENST00000458166.2_Frame_Shift_Del_p.R66fs|KCNAB2_ENST00000378083.3_Frame_Shift_Del_p.R166fs|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378097.1_Frame_Shift_Del_p.R133fs|KCNAB2_ENST00000352527.1_Frame_Shift_Del_p.R119fs|KCNAB2_ENST00000341524.1_Frame_Shift_Del_p.R133fs|KCNAB2_ENST00000602612.1_Frame_Shift_Del_p.R133fs NM_001199860.1 NP_001186789.1 Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 2 133 cytoplasm|integral to membrane|juxtaparanode region of axon oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity large_intestine(1)|lung(4)|skin(3) 8 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649) GGCCTGTCCAGGAAGCACATA 0.632 2 4 --- --- --- --- SPEN 23013 broad.mit.edu 37 1 16202965 16202978 + Frame_Shift_Del DEL ACCCGGGAGGTACG ACCCGGGAGGTACG - rs146447271 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr1:16202965_16202978delACCCGGGAGGTACG ENST00000375759.3 + 3 877_890 c.673_686delACCCGGGAGGTACG c.(673-687)afs p.TREVR225fs SPEN_ENST00000471538.1_3'UTR NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 225 Arg-rich. 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) GGATGATATTACCCGGGAGGTACGAGGCAGAAGG 0.528 46 105 --- --- --- --- RP3-437I16.1 0 broad.mit.edu 37 1 29673168 29673168 + RNA DEL C C - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr1:29673168delC ENST00000417651.1 - 0 432 GGGGTGCGGGCCCCTTCCCTT 0.577 2 4 --- --- --- --- RP11-776H12.1 0 broad.mit.edu 37 1 61088114 61088115 + RNA DEL AC AC - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr1:61088114_61088115delAC ENST00000439156.2 - 0 336 cttcttatagacacacacacac 0.426 3 3 --- --- --- --- RP11-16L9.4 0 broad.mit.edu 37 1 199000355 199000355 + RNA DEL A A - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr1:199000355delA ENST00000432488.1 + 0 333 atgcaagtccaaaaatccagt 0.433 2 4 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710019 38710019 + RNA DEL T T - rs2005502 by1000genomes TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr2:38710019delT ENST00000417039.1 - 0 696 CTTtaaaaaataaataaataa 0.244 3 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 60002943 60002944 + RNA INS - - C rs141991184 by1000genomes TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr2:60002943_60002944insC ENST00000606382.1 - 0 236 cttcttTGCAGCCCCCATTCAC 0.515 4 2 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 10 117 --- --- --- --- RP11-12A1.1 0 broad.mit.edu 37 4 58030362 58030362 + RNA DEL G G - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr4:58030362delG ENST00000499667.2 + 0 209 RP11-12A1.1_ENST00000508328.1_RNA NR_034081.1 AGAGGGCACCGTCGTCACACA 0.697 OREG0009156|OREG0016209 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model 2 4 --- --- --- --- AC005592.2 0 broad.mit.edu 37 5 141755516 141755516 + RNA DEL T T - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr5:141755516delT ENST00000510311.1 + 0 506 GCAACTGGGATTTTGCAGCCT 0.453 2 4 --- --- --- --- CTB-12O2.1 0 broad.mit.edu 37 5 151396111 151396114 + RNA DEL GGTG GGTG - rs74419566 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr5:151396111_151396114delGGTG ENST00000524295.1 + 0 199 gaggtttcttggtgggtgtgggtg 0.407 5 1 --- --- --- --- RP11-133O22.6 0 broad.mit.edu 37 9 33816937 33816937 + RNA DEL G G - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr9:33816937delG ENST00000454429.2 - 0 169 CTTTATGGGCGGGGGACACGC 0.682 2 4 --- --- --- --- LINC00842 0 broad.mit.edu 37 10 47123114 47123115 + RNA DEL TA TA - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr10:47123114_47123115delTA ENST00000422732.2 - 0 435 NR_033957.1 caaataaggttatagtcacagg 0.361 2 4 --- --- --- --- OR5L2 26338 broad.mit.edu 37 11 55595238 55595238 + Frame_Shift_Del DEL C C - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr11:55595238delC ENST00000378397.1 + 1 544 c.544delC c.(544-546)ccfs p.P183fs NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CTGTGATCTACCCCCTCTCCT 0.453 HNSCC(27;0.073) 119 187 --- --- --- --- RP11-415I12.3 0 broad.mit.edu 37 12 64090772 64090772 + RNA DEL C C - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr12:64090772delC ENST00000509615.2 - 0 238 RP11-415I12.2_ENST00000541353.1_RNA atggtctataccccctcagga 0.478 2 4 --- --- --- --- IFNG-AS1 0 broad.mit.edu 37 12 68543691 68543692 + RNA DEL AT AT - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr12:68543691_68543692delAT ENST00000536914.1 + 0 336 gatggggtgaatatatatgtgt 0.441 2 4 --- --- --- --- CSPG4P5 0 broad.mit.edu 37 15 84957480 84957499 + RNA DEL GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA ENST00000558801.1 - 0 7230_7249 TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT 0.586 9 31 --- --- --- --- CTC-297N7.5 0 broad.mit.edu 37 17 10642874 10642875 + RNA DEL CA CA - rs112666143 by1000genomes TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr17:10642874_10642875delCA ENST00000583343.1 + 0 144 CTC-297N7.5_ENST00000584714.1_RNA|CTC-297N7.5_ENST00000583012.1_RNA|CTC-297N7.5_ENST00000579114.1_RNA|CTC-297N7.5_ENST00000581366.1_RNA|TMEM220-AS1_ENST00000580899.1_RNA ACTTCACGTGcacacacacaca 0.559 2 4 --- --- --- --- MAST1 22983 broad.mit.edu 37 19 12975741 12975743 + In_Frame_Del DEL CCG CCG - rs146244031 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr19:12975741_12975743delCCG ENST00000251472.4 + 13 1524_1526 c.1485_1487delCCG c.(1483-1488)cac>ca p.HR495del NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 495 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 GCATCGTGCACCGCGACCTCAAG 0.567 66 12 --- --- --- --- HPN-AS1 0 broad.mit.edu 37 19 35596297 35596299 + RNA DEL CAC CAC - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr19:35596297_35596299delCAC ENST00000392227.2 - 0 76 NR_024562.1 ccaccagcctcaccaccaccacc 0.507 2 4 --- --- --- --- ZNF230 7773 broad.mit.edu 37 19 44515243 44515243 + Frame_Shift_Del DEL T T - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr19:44515243delT ENST00000429154.2 + 5 1280 c.1052delT c.(1051-1053)ctfs p.L352fs NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) TCCTCATATCTTTTGATCCAT 0.428 82 196 --- --- --- --- CLASRP 11129 broad.mit.edu 37 19 45572472 45572472 + Frame_Shift_Del DEL G G - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr19:45572472delG ENST00000544944.2 + 16 2475 c.1783delG c.(1783-1785)agfs p.E595fs CLASRP_ENST00000391953.4_Frame_Shift_Del_p.E552fs|CLASRP_ENST00000221455.3_Frame_Shift_Del_p.E614fs Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 614 Arg-rich. mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 GCGGGAAGACGAGCTTCGAGC 0.652 10 392 --- --- --- --- RP5-1100I6.2 0 broad.mit.edu 37 20 24188842 24188843 + RNA INS - - TG rs148470851 by1000genomes TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr20:24188842_24188843insTG ENST00000457274.1 + 0 68 NR_040102.1 gtgcaatcgcctgtgtgtgtgc 0.525 4 3 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29580865 29580866 + RNA DEL AC AC - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr20:29580865_29580866delAC ENST00000432067.1 - 0 288 TTTTCCCCAAACACAGAGAAAG 0.406 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11040447 11040447 + RNA DEL A A - rs145874834 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr21:11040447delA ENST00000470054.1 - 0 774 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) AGGTAAGGATAAAAGAAAACT 0.343 3 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11059001 11059003 + RNA DEL AAG AAG - TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr21:11059001_11059003delAAG ENST00000470054.1 - 0 324 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) GTGAACACATAAGAAGTCAGAAG 0.384 3 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11064287 11064288 + RNA INS - - A rs55767427 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr21:11064287_11064288insA ENST00000470054.1 - 0 324 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) GCTTCCACAGCAATCTTTCTAA 0.416 10 6 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11072388 11072389 + RNA INS - - T rs139874484 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr21:11072388_11072389insT ENST00000470054.1 - 0 324 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) tggttcacgccgtgattccagc 0.505 4 8 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11076406 11076407 + RNA DEL TT TT - rs142727884 TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chr21:11076406_11076407delTT ENST00000470054.1 - 0 324 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) taatttactattttttttttct 0.287 4 3 --- --- --- --- FAM120C 54954 broad.mit.edu 37 X 54209302 54209303 + In_Frame_Ins INS - - GGCGGC TCGA-N5-A4RM-01A-11D-A28R-08 TCGA-N5-A4RM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 643ce1e5-5d7b-42a7-be84-fff6e1f00788 fbe85c1e-c6b0-4a9a-91cc-189ca341431f g.chrX:54209302_54209303insGGCGGC ENST00000375180.2 - 1 385_386 c.329_330insGCCGCC c.(328-330)ccc>cGCCGCCcc p.109_110insRR FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 109 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GCAGCTGAGGGGGCGGCGGCGG 0.748 5 5 --- --- --- ---