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 ZNF473 25888 broad.mit.edu 37 19 50548418 50548418 + Missense_Mutation SNP C C G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:50548418C>G ENST00000595661.1 + 6 1213 c.718C>G c.(718-720)Caa>Gaa p.Q240E ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Missense_Mutation_p.Q240E|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.Q240E|ZNF473_ENST00000445728.3_Missense_Mutation_p.Q228E Q8WTR7 ZN473_HUMAN zinc finger protein 473 240 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) CACTGTCCATCAAGAGTGTGA 0.448000 20 76 0 0 9.7654e-05 0 0 PGK2 5232 broad.mit.edu 37 6 49754466 49754466 + Missense_Mutation SNP A A T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr6:49754466A>T ENST00000304801.3 - 1 587 c.435T>A c.(433-435)gaT>gaA p.D145E NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 145 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) CTTCTATTTTATCTGGCTCAG 0.507000 33 35 0 0 7.24521e-05 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764356 140764356 + Silent SNP G G A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr5:140764356G>A ENST00000518325.1 + 1 1890 c.1890G>A c.(1888-1890)cgG>cgA p.R630R PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACGGCTCGGGCCCTGCTGG 0.647000 26 49 0 0 0.000184323 0 0 KDM8 79831 broad.mit.edu 37 16 27231718 27231718 + Missense_Mutation SNP T T C TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr16:27231718T>C ENST00000286096.4 + 7 1171 c.998T>C c.(997-999)aTg>aCg p.M333T KDM8_ENST00000380948.2_Intron|KDM8_ENST00000441782.2_Missense_Mutation_p.M371T|KDM8_ENST00000568965.1_Intron|KDM8_ENST00000567785.1_3'UTR NM_024773.2 NP_079049.2 Q8N371 KDM8_HUMAN lysine (K)-specific demethylase 8 333 JmjC. G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen CCCCAGGTGATGGGGAGGAAG 0.622000 5 212 0 0 3.59834e-05 0 0 CREB3L2 64764 broad.mit.edu 37 7 137612996 137612996 + Silent SNP C C T rs146953741 byFrequency TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr7:137612996C>T ENST00000330387.6 - 2 570 c.219G>A c.(217-219)ccG>ccA p.P73P CREB3L2_ENST00000456390.1_Silent_p.P73P|CREB3L2_ENST00000458726.1_Silent_p.P10P|CREB3L2_ENST00000452463.1_Silent_p.P73P NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 73 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 TGAGAGGCGCCGGGGACGTCG 0.577000 T FUS fibromyxoid sarcoma 20 13 0 0 0.000132079 0 0 MUC4 4585 broad.mit.edu 37 3 195515876 195515876 + Missense_Mutation SNP C C G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr3:195515876C>G ENST00000463781.3 - 2 3034 c.2575G>C c.(2575-2577)Gta>Cta p.V859L MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V859L|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 864 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CCTGTGCTTACTGGGATGGCA 0.572000 11 27 0 0 6.40141e-05 0 0 DMXL1 1657 broad.mit.edu 37 5 118464914 118464914 + Missense_Mutation SNP C C G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr5:118464914C>G ENST00000311085.8 + 10 1191 c.1111C>G c.(1111-1113)Ctt>Gtt p.L371V DMXL1_ENST00000539542.1_Missense_Mutation_p.L371V NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 371 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AGACATTCCACTTCTTCCATC 0.274000 8 27 0 0 2.17888e-05 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 33 0 0 2.17888e-05 0 0 SPEG 10290 broad.mit.edu 37 2 220354563 220354563 + Silent SNP C C T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr2:220354563C>T ENST00000312358.7 + 36 8955 c.8823C>T c.(8821-8823)tcC>tcT p.S2941S AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2941 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TGGTCAGCTCCCCTGGGAGCA 0.662000 18 34 0 0 0.000229342 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60369037 60369037 + Nonsense_Mutation SNP G G A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr5:60369037G>A ENST00000296597.5 + 2 340 c.213G>A c.(211-213)tgG>tgA p.W71* NDUFAF2_ENST00000511107.1_Intron|NDUFAF2_ENST00000512623.1_3'UTR NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 71 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) CAACAGAATGGGAAGGTAAGT 0.318000 92 96 0 0 0.000147903 0 0 PHC3 80012 broad.mit.edu 37 3 169831280 169831280 + Nonsense_Mutation SNP G G A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr3:169831280G>A ENST00000494943.1 - 11 2253 c.2185C>T c.(2185-2187)Cag>Tag p.Q729* PHC3_ENST00000495893.1_Nonsense_Mutation_p.Q741*|PHC3_ENST00000467570.1_Nonsense_Mutation_p.Q688* Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 729 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TTCACAGGCTGTTCTATTAGC 0.338000 10 38 0 0 3.86212e-05 0 0 DIS3 22894 broad.mit.edu 37 13 73350130 73350130 + Missense_Mutation SNP C C G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr13:73350130C>G ENST00000377767.4 - 5 855 c.755G>C c.(754-756)aGa>aCa p.R252T DIS3_ENST00000545453.1_Missense_Mutation_p.R90T|DIS3_ENST00000377780.4_Missense_Mutation_p.R222T NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 252 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) CCTGCTAGCTCTAAATGTTCC 0.328000 Multiple Myeloma(4;0.011) 19 1 0 0 0.000295444 0 0 GRIA1 2890 broad.mit.edu 37 5 153085596 153085596 + Missense_Mutation SNP T T G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr5:153085596T>G ENST00000285900.5 + 11 2135 c.1792T>G c.(1792-1794)Ttc>Gtc p.F598V GRIA1_ENST00000518142.1_Missense_Mutation_p.F518V|GRIA1_ENST00000521843.2_Missense_Mutation_p.F529V|GRIA1_ENST00000518783.1_Missense_Mutation_p.F608V|GRIA1_ENST00000448073.4_Missense_Mutation_p.F608V|GRIA1_ENST00000340592.5_Missense_Mutation_p.F598V NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 598 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CCTGGGAGCCTTCATGCAGCA 0.453000 11 48 0 0 3.86212e-05 0 0 SLC8A1 6546 broad.mit.edu 37 2 40342620 40342620 + Missense_Mutation SNP G G C TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr2:40342620G>C ENST00000406785.1 - 8 2776 c.2587C>G c.(2587-2589)Cag>Gag p.Q863E SLC8A1_ENST00000406391.2_Missense_Mutation_p.Q863E|SLC8A1_ENST00000405269.1_Missense_Mutation_p.Q863E|SLC8A1_ENST00000403092.1_Missense_Mutation_p.Q899E|SLC8A1_ENST00000402441.1_Missense_Mutation_p.Q863E|SLC8A1_ENST00000332839.4_Missense_Mutation_p.Q899E|SLC8A1_ENST00000408028.2_Missense_Mutation_p.Q891E|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.Q894E|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.Q894E|SLC8A1_ENST00000542024.1_Missense_Mutation_p.Q863E|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 899 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ACTTTGAACTGTTCCCCATTG 0.552000 12 37 0 0 6.40141e-05 0 0 GAB2 9846 broad.mit.edu 37 11 77930378 77930378 + Silent SNP G G T rs115982223 byFrequency TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:77930378G>T ENST00000361507.4 - 10 2056 c.1971C>A c.(1969-1971)acC>acA p.T657T GAB2_ENST00000340149.2_Silent_p.T619T NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 657 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) ACTCCTGCATGGTGTTCTGCA 0.597000 22 2293 0.000219431 0.00807418 0.000219431 1 0 SSH2 85464 broad.mit.edu 37 17 27975227 27975227 + Silent SNP C C A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr17:27975227C>A ENST00000269033.3 - 13 1432 c.1281G>T c.(1279-1281)acG>acT p.T427T RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.T454T NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 427 Tyrosine-protein phosphatase. actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCTTGGTTACCGTTCGTCTTT 0.502000 7 246 0.000157383 0.00585076 0.000157383 1 0 C12orf5 57103 broad.mit.edu 37 12 4460443 4460443 + Missense_Mutation SNP T T C TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr12:4460443T>C ENST00000179259.4 + 5 348 c.281T>C c.(280-282)gTt>gCt p.V94A C12orf5_ENST00000537251.1_3'UTR NM_020375.2 NP_065108.1 Q9NQ88 TIGAR_HUMAN chromosome 12 open reading frame 5 94 intracellular fructose-2,6-bisphosphate 2-phosphatase activity endometrium(1)|large_intestine(1)|lung(5)|skin(3) 10 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) AAATACGGGGTTGTAGAAGGC 0.448000 25 53 0 0 0.000147802 0 0 OR1M1 125963 broad.mit.edu 37 19 9204595 9204595 + Silent SNP C C T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:9204595C>T ENST00000429566.3 + 1 741 c.675C>T c.(673-675)atC>atT p.I225I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 TTGTGGCCATCATGAAGGTCC 0.562000 25 133 0 0 0.000184323 0 0 TMEM131 23505 broad.mit.edu 37 2 98421906 98421906 + Silent SNP G G A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr2:98421906G>A ENST00000186436.5 - 21 2445 c.2217C>T c.(2215-2217)aaC>aaT p.N739N NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 739 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 CAAAATAAATGTTTGCAATCT 0.383000 19 44 0 0 7.07596e-05 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 3 29 0 0 0.00024832 0 0 TUBA1B 10376 broad.mit.edu 37 12 49522718 49522718 + Missense_Mutation SNP C C T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr12:49522718C>T ENST00000336023.5 - 4 473 c.379G>A c.(379-381)Gac>Aac p.D127N RP11-386G11.10_ENST00000547387.1_RNA NM_006082.2 NP_006073.2 P68363 TBA1B_HUMAN tubulin, alpha 1b 127 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 GTGCACTGGTCAGCCTGTAGG 0.428000 12 124 0 0 0.000219431 0 0 AGMO 392636 broad.mit.edu 37 7 15430341 15430341 + Nonsense_Mutation SNP A A T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr7:15430341A>T ENST00000342526.3 - 8 946 c.777T>A c.(775-777)taT>taA p.Y259* NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 259 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 GTGTTAAGCCATATACAACTT 0.279000 17 151 0 0 0.000375601 0 0 OR1M1 125963 broad.mit.edu 37 19 9204673 9204673 + Silent SNP C C T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:9204673C>T ENST00000429566.3 + 1 819 c.753C>T c.(751-753)ttC>ttT p.F251F NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 TTGCTCTCTTCTATGGGACCA 0.572000 30 174 0 0 0.000227799 0 0 ODF3 113746 broad.mit.edu 37 11 197726 197726 + Missense_Mutation SNP G G A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:197726G>A ENST00000325113.4 + 3 592 c.275G>A c.(274-276)cGc>cAc p.R92H ODF3_ENST00000342593.5_Missense_Mutation_p.R92H|ODF3_ENST00000525282.1_Missense_Mutation_p.R92H|BET1L_ENST00000410108.1_Intron NM_053280.3 NP_444510.2 Q96PU9 ODF3A_HUMAN outer dense fiber of sperm tails 3 92 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1) 9 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) ATCCTGGGGCGCTACCAAACC 0.622000 31 36 0 0 0.000191422 0 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chrX:73811938G>C ENST00000332687.6 - 4 1430 c.1212C>G c.(1210-1212)acC>acG p.T404T RLIM_ENST00000349225.2_Silent_p.T404T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.T404T(6) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTAACATGGTCTGAATTG 0.413000 4 41 0 0 0.00024832 0 0 QARS 5859 broad.mit.edu 37 3 49137495 49137495 + Silent SNP G G A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr3:49137495G>A ENST00000306125.6 - 14 1531 c.1194C>T c.(1192-1194)ggC>ggT p.G398G QARS_ENST00000414533.1_Silent_p.G387G P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 398 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) GTGTGGCCTCGCCCTCTGAAA 0.552000 36 84 0 0 0.000191422 0 0 CCNB3 85417 broad.mit.edu 37 X 50053973 50053973 + Missense_Mutation SNP A A G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chrX:50053973A>G ENST00000376042.1 + 6 3102 c.2804A>G c.(2803-2805)gAg>gGg p.E935G CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E935G Q8WWL7 CCNB3_HUMAN cyclin B3 935 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) GCTCTGAATGAGAAACCCACC 0.458000 18 23 0 0 0.000229342 0 0 FAM86C1 55199 broad.mit.edu 37 11 71507263 71507263 + Silent SNP A A G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:71507263A>G ENST00000528685.1 + 3 360 c.360A>G c.(358-360)acA>acG p.T120T FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron Q9NVL1 FA86C_HUMAN family with sequence similarity 86, member C1 0 lung(1) 1 CTGTCCCTACAGGACTCCAGT 0.627000 7 950 0 0 0.000295444 0 0 POP1 10940 broad.mit.edu 37 8 99170218 99170218 + Missense_Mutation SNP G G T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr8:99170218G>T ENST00000401707.2 + 16 2875 c.2794G>T c.(2794-2796)Gcg>Tcg p.A932S POP1_ENST00000349693.3_Missense_Mutation_p.A932S NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 932 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) TGATGGCCCGGCGGGGGAAGA 0.582000 48 90 4.18559e-23 1.67703e-21 0.000147903 1 0 PRSS23 11098 broad.mit.edu 37 11 86519475 86519475 + Missense_Mutation SNP G G T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:86519475G>T ENST00000280258.5 + 2 1215 c.790G>T c.(790-792)Ggg>Tgg p.G264W PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.G232W NM_007173.4 NP_009104.1 O95084 PRS23_HUMAN protease, serine, 23 264 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TATGAAGATTGGGGTGAGCCC 0.488000 15 1373 0.000274275 0.00999026 0.000274275 1 0 TMEM63A 9725 broad.mit.edu 37 1 226055681 226055681 + Missense_Mutation SNP A A T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr1:226055681A>T ENST00000366835.3 - 7 691 c.421T>A c.(421-423)Tcc>Acc p.S141T NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 141 integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CTCTGGAAGGACAGGTAGTGG 0.547000 18 68 0 0 9.7654e-05 0 0 FGD3 89846 broad.mit.edu 37 9 95772662 95772662 + Silent SNP G G A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr9:95772662G>A ENST00000375482.3 + 7 1468 c.972G>A c.(970-972)gcG>gcA p.A324A FGD3_ENST00000337352.6_Silent_p.A324A|FGD3_ENST00000416701.2_Silent_p.A324A NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 324 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 GGAAGGATGCGGAGAGTGAGC 0.657000 7 24 0 0 0.000157383 0 0 OR1M1 125963 broad.mit.edu 37 19 9204670 9204670 + Silent SNP C C A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:9204670C>A ENST00000429566.3 + 1 816 c.750C>A c.(748-750)ctC>ctA p.L250L NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 TGGTTGCTCTCTTCTATGGGA 0.572000 31 172 3.80469e-20 1.50766e-18 0.000279167 1 0 HIVEP1 3096 broad.mit.edu 37 6 12162032 12162032 + Missense_Mutation SNP G G T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr6:12162032G>T ENST00000379388.2 + 8 7180 c.6848G>T c.(6847-6849)aGa>aTa p.R2283I HIVEP1_ENST00000541134.1_Missense_Mutation_p.R148I NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2283 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CGTGCTGCGAGAGATGAAAAC 0.532000 17 85 2.23348e-06 8.66015e-05 0.000422831 1 0 MBD5 55777 broad.mit.edu 37 2 149247723 149247723 + Missense_Mutation SNP A A C TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr2:149247723A>C ENST00000407073.1 + 12 4820 c.3823A>C c.(3823-3825)Agt>Cgt p.S1275R MBD5_ENST00000404807.1_Missense_Mutation_p.S1508R NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1275 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) AACTATGATGAGTTTTAAGGA 0.423000 19 41 0 0 9.7654e-05 0 0 RAD54L2 23132 broad.mit.edu 37 3 51677967 51677967 + Silent SNP C C T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr3:51677967C>T ENST00000409535.1 + 15 2552 c.2427C>T c.(2425-2427)acC>acT p.T809T RAD54L2_ENST00000296477.3_Silent_p.T503T NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 809 Helicase C-terminal. nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) ACCTCACCACCTGGCTGTTCC 0.527000 3 10 0 0 6.4e-05 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr17:39240627T>C ENST00000391417.4 + 1 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S57P(4) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 GTGCTGCCAGTCTGTGTGCTG 0.667000 3 24 0 0 8.12818e-05 0 0 SPDL1 54908 broad.mit.edu 37 5 169018183 169018183 + Silent SNP A A G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr5:169018183A>G ENST00000265295.4 + 3 570 c.291A>G c.(289-291)caA>caG p.Q97Q SPDL1_ENST00000510751.1_3'UTR NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 TGGAAGAACAACTAAGCAGAA 0.378000 14 46 0 0 0.000219431 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501880 140501880 + Silent SNP G G A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr5:140501880G>A ENST00000194152.1 + 1 300 c.300G>A c.(298-300)ccG>ccA p.P100P NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 100 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTATTGAACCGTGTGTACTGC 0.463000 24 69 0 0 7.16444e-05 0 0 MYC 4609 broad.mit.edu 37 8 128750836 128750836 + Missense_Mutation SNP A A T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr8:128750836A>T ENST00000377970.2 + 2 883 c.373A>T c.(373-375)Atg>Ttg p.M125L MYC_ENST00000524013.1_Missense_Mutation_p.M124L|MYC_ENST00000259523.6_Missense_Mutation_p.M110L NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 110 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) GGGAGGAGACATGGTGAACCA 0.607000 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 118 0 0 0.000132079 0 0 JMJD1C 221037 broad.mit.edu 37 10 64967657 64967657 + Missense_Mutation SNP T T C TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr10:64967657T>C ENST00000399262.2 - 10 3990 c.3772A>G c.(3772-3774)Aaa>Gaa p.K1258E JMJD1C_ENST00000542921.1_Missense_Mutation_p.K1076E|JMJD1C_ENST00000399251.1_Missense_Mutation_p.K1039E|JMJD1C_ENST00000402544.1_Missense_Mutation_p.K1039E NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1258 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TGGGAGTCTTTTGGTTCGGGT 0.423000 24 61 0 0 5.49717e-05 0 0 AURKAIP1 54998 broad.mit.edu 37 1 1309511 1309511 + Missense_Mutation SNP G G A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr1:1309511G>A ENST00000338370.3 - 2 767 c.367C>T c.(367-369)Cct>Tct p.P123S AURKAIP1_ENST00000321751.5_Missense_Mutation_p.P123S|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.P123S|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.P123S Q9NWT8 AKIP_HUMAN aurora kinase A interacting protein 1 123 negative regulation of mitosis|positive regulation of proteolysis mitochondrion|nucleus protein binding kidney(1)|lung(2) 3 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TGAATTTGAGGCGCATCCGCG 0.617000 42 215 0 0 0.000374591 0 0 EPS8L1 54869 broad.mit.edu 37 19 55597520 55597520 + Missense_Mutation SNP G G A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:55597520G>A ENST00000201647.6 + 16 1666 c.1610G>A c.(1609-1611)gGa>gAa p.G537E EPS8L1_ENST00000540810.1_Missense_Mutation_p.G473E|EPS8L1_ENST00000588359.1_Missense_Mutation_p.G223E|EPS8L1_ENST00000245618.5_Missense_Mutation_p.G410E|EPS8L1_ENST00000586329.1_Intron NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 537 Pro-rich.|SH3. cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CCCTACCCCGGACCCCGGCTG 0.642000 12 90 0 0 0.000308642 0 0 OR1M1 125963 broad.mit.edu 37 19 9204217 9204217 + Silent SNP C C T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:9204217C>T ENST00000429566.3 + 1 363 c.297C>T c.(295-297)atC>atT p.I99I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 GCTGCCTGATCCAGATGTACT 0.527000 8 73 0 0 0.000274275 0 0 DSG2 1829 broad.mit.edu 37 18 29111149 29111149 + Missense_Mutation SNP G G C TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr18:29111149G>C ENST00000261590.8 + 9 1423 c.1214G>C c.(1213-1215)aGc>aCc p.S405T NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 405 Cadherin 4. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) GATAGATCAAGCAAAGGCCAA 0.388000 17 62 0 0 0.000422831 0 0 SCN8A 6334 broad.mit.edu 37 12 52164343 52164343 + Missense_Mutation SNP T T A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr12:52164343T>A ENST00000354534.5 + 19 3699 c.3521T>A c.(3520-3522)gTc>gAc p.V1174D SCN8A_ENST00000545061.1_Missense_Mutation_p.V1174D NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1174 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TGCTGCCAGGTCAACATCGAG 0.587000 5 27 0 0 3.59834e-05 0 0 EPG5 57724 broad.mit.edu 37 18 43458346 43458346 + Silent SNP G G A rs150214973 by1000genomes TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr18:43458346G>A ENST00000282041.5 - 34 5971 c.5937C>T c.(5935-5937)aaC>aaT p.N1979N EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1979 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TTTACCTTTCGTTGTCCTCTA 0.328000 18 59 0 0 9.7654e-05 0 0 SERPIND1 3053 broad.mit.edu 37 22 21141316 21141316 + Missense_Mutation SNP C C G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr22:21141316C>G ENST00000215727.5 + 5 1745 c.1462C>G c.(1462-1464)Ctc>Gtc p.L488V PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.L488V|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 488 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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) Ardeparin(DB00407) CAGCTGCCTGCTCTTCATGGG 0.572000 25 31 0 0 0.000184323 0 0 OR1M1 125963 broad.mit.edu 37 19 9204196 9204196 + Silent SNP C C T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:9204196C>T ENST00000429566.3 + 1 342 c.276C>T c.(274-276)atC>atT p.I92I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 GCAAGGCCATCTCTTATCCCT 0.522000 7 62 0 0 0.000157383 0 0 ANKS6 203286 broad.mit.edu 37 9 101552847 101552847 + Missense_Mutation SNP C C G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr9:101552847C>G ENST00000353234.4 - 2 448 c.401G>C c.(400-402)gGg>gCg p.G134A ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000375018.1_Missense_Mutation_p.G134A|ANKS6_ENST00000375019.2_Intron Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 134 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) GACATCAGCCCCGTGATCCAA 0.597000 3 30 0 0 6.4e-05 0 0 HEMGN 55363 broad.mit.edu 37 9 100693159 100693159 + Missense_Mutation SNP G G C TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr9:100693159G>C ENST00000259456.3 - 4 661 c.518C>G c.(517-519)tCt>tGt p.S173C NM_018437.3|NM_197978.2 NP_060907.2|NP_932095.1 Q9BXL5 HEMGN_HUMAN hemogen 173 cell differentiation|multicellular organismal development NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(62;0.0559) CATTTTAGGAGAGAGGTCTTC 0.373000 60 172 0 0 0.000147903 0 0 RPS6KA4 8986 broad.mit.edu 37 11 64132815 64132815 + Missense_Mutation SNP C C T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:64132815C>T ENST00000528057.1 + 9 1037 c.949C>T c.(949-951)Cca>Tca p.P317S RPS6KA4_ENST00000334205.4_Missense_Mutation_p.P317S|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.P317S NM_001006944.1 NP_001006945.1 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 4 317 AGC-kinase C-terminal. axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13 GATTCCAGCCCCATTCCGGCC 0.612000 14 26 0 0 0.000151284 0 0 NLRP2 55655 broad.mit.edu 37 19 55495050 55495050 + Missense_Mutation SNP C C A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:55495050C>A ENST00000543010.1 + 6 2127 c.1984C>A c.(1984-1986)Ctc>Atc p.L662I NLRP2_ENST00000537859.1_Missense_Mutation_p.L640I|NLRP2_ENST00000391721.4_Missense_Mutation_p.L638I|NLRP2_ENST00000339757.7_Missense_Mutation_p.L640I|NLRP2_ENST00000448584.2_Missense_Mutation_p.L662I|NLRP2_ENST00000427260.2_Missense_Mutation_p.L639I|NLRP2_ENST00000263437.6_Missense_Mutation_p.L659I|NLRP2_ENST00000538819.1_Missense_Mutation_p.L638I NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 662 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AAAGGAGAATCTCCCGGAGAA 0.493000 46 42 8.94452e-30 3.62404e-28 0.000147903 1 0 OR4D2 124538 broad.mit.edu 37 17 56247914 56247914 + Missense_Mutation SNP A A G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr17:56247914A>G ENST00000545221.1 + 1 898 c.898A>G c.(898-900)Aga>Gga p.R300G NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 AGCAGTGAGAAGATTAGGGAG 0.502000 33 141 0 0 0.000159656 0 0 POLR2I 5438 broad.mit.edu 37 19 36605705 36605705 + Missense_Mutation SNP C C G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:36605705C>G ENST00000221859.4 - 1 543 c.54G>C c.(52-54)caG>caC p.Q18H NM_006233.4 NP_006224.1 P36954 RPB9_HUMAN polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa 18 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|zinc ion binding kidney(1)|large_intestine(1)|ovary(1) 3 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CTCACCATTCCTGGCAGAAGC 0.657000 37 124 0 0 0.000319135 0 0 ZNF154 7710 broad.mit.edu 37 19 58213208 58213208 + Missense_Mutation SNP G G A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:58213208G>A ENST00000512439.2 - 3 1305 c.1109C>T c.(1108-1110)tCc>tTc p.S370F ZNF154_ENST00000426889.1_Missense_Mutation_p.S370F|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron Q13106 ZN154_HUMAN zinc finger protein 154 370 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(3) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCGGAGACTGGAGCTGTAGGG 0.488000 14 38 0 0 0.000151284 0 0 MCCC2 64087 broad.mit.edu 37 5 70888768 70888768 + Missense_Mutation SNP A A G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr5:70888768A>G ENST00000340941.6 + 2 274 c.145A>G c.(145-147)Atg>Gtg p.M49V MCCC2_ENST00000509358.2_Missense_Mutation_p.M49V|MCCC2_ENST00000323375.8_Missense_Mutation_p.M49V NM_022132.4 NP_071415.1 Q9HCC0 MCCB_HUMAN methylcrotonoyl-CoA carboxylase 2 (beta) 49 leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 30 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) CTACAAGCAGATGAAAGCACT 0.343000 13 73 0 0 0.000308642 0 0 BCMO1 53630 broad.mit.edu 37 16 81320964 81320964 + Missense_Mutation SNP C C G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr16:81320964C>G ENST00000258168.2 + 10 1828 c.1367C>G c.(1366-1368)gCg>gGg p.A456G BCMO1_ENST00000425577.2_Missense_Mutation_p.A387G NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 456 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 TGCTGGCCAGCGGAACCCCTG 0.483000 19 27 0 0 0.000229342 0 0 BRINP3 339479 broad.mit.edu 37 1 190195425 190195425 + Missense_Mutation SNP A A C TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr1:190195425A>C ENST00000367462.3 - 6 979 c.748T>G c.(748-750)Tat>Gat p.Y250D FAM5C_ENST00000534846.1_Missense_Mutation_p.Y148D|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 250 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TCCTGAAGATAGTCTGGGAGA 0.338000 5 31 0 0 1.23904e-05 0 0 GABPB1 2553 broad.mit.edu 37 15 50601977 50601977 + Nonsense_Mutation SNP C C A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr15:50601977C>A ENST00000380877.3 - 2 442 c.19G>T c.(19-21)Gga>Tga p.G7* GABPB1_ENST00000359031.4_Nonsense_Mutation_p.G7*|GABPB1_ENST00000220429.8_Nonsense_Mutation_p.G7*|GABPB1_ENST00000429662.2_Nonsense_Mutation_p.G7*|GABPB1_ENST00000543881.1_Intron|GABPB1_ENST00000560825.1_Nonsense_Mutation_p.G7*|GABPB1_ENST00000396464.3_Nonsense_Mutation_p.G7* NM_005254.5|NM_016654.4 NP_005245.2|NP_057738.1 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta subunit 1 7 positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding cervix(1)|endometrium(1)|large_intestine(7)|lung(5) 14 AGCTTCTTTCCCAAATCTACC 0.383000 16 1904 6.40141e-05 0.00242984 6.40141e-05 1 0 FOXA2 3170 broad.mit.edu 37 20 22564860 22564860 + Silent SNP G G A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr20:22564860G>A ENST00000419308.2 - 1 241 c.39C>T c.(37-39)tcC>tcT p.S13S FOXA2_ENST00000377115.4_Silent_p.S13S|FOXA2_ENST00000319993.4_Silent_p.S19S NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 13 cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) TGCTCCAGTCGGACGGCTCGT 0.582000 15 41 0 0 7.07596e-05 0 0 C2CD3 26005 broad.mit.edu 37 11 73795951 73795951 + Silent SNP T T C TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:73795951T>C ENST00000334126.7 - 22 4201 c.3975A>G c.(3973-3975)acA>acG p.T1325T C2CD3_ENST00000313663.7_Silent_p.T1325T Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1325 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) GCAGCTCTTTTGTTGGAACTT 0.373000 17 782 0 0 9.7654e-05 0 0 NLK 51701 broad.mit.edu 37 17 26495492 26495492 + Missense_Mutation SNP G G C TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr17:26495492G>C ENST00000407008.3 + 6 1574 c.856G>C c.(856-858)Gcc>Ccc p.A286P NM_016231.4 NP_057315.3 Q9UBE8 NLK_HUMAN nemo-like kinase 286 Protein kinase. intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) TTTTGGATTGGCCAGAGTGGA 0.378000 36 268 0 0 0.000132358 0 0 MYT1 4661 broad.mit.edu 37 20 62871203 62871203 + Missense_Mutation SNP G G A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr20:62871203G>A ENST00000536311.1 + 22 3629 c.3265G>A c.(3265-3267)Ggc>Agc p.G1089S MYT1_ENST00000328439.1_Missense_Mutation_p.G1062S Q01538 MYT1_HUMAN myelin transcription factor 1 1062 DA -> VP (in Ref. 5; AAA59897). cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GGAGCTGTCCGGCCTGAGCCA 0.592000 12 135 0 0 6.40141e-05 0 0 IRF6 3664 broad.mit.edu 37 1 209974733 209974733 + Missense_Mutation SNP C C T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr1:209974733C>T ENST00000367021.3 - 3 198 c.26G>A c.(25-27)cGg>cAg p.R9Q IRF6_ENST00000542854.1_Intron NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 9 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) GGGCTTTAGCCGGACTCTGCG 0.597000 HNSCC(57;0.16) 18 145 0 0 0.000132079 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 4 47 0 0 0.00024832 0 0 POTEC 388468 broad.mit.edu 37 18 14542693 14542693 + Silent SNP C C T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr18:14542693C>T ENST00000358970.5 - 1 452 c.453G>A c.(451-453)aaG>aaA p.K151K POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 151 p.K151K(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTCTGGGGACCTTACCCCACC 0.592000 6 249 0 0 6.40141e-05 0 0 LILRA1 11024 broad.mit.edu 37 19 55112268 55112268 + Missense_Mutation SNP C C G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:55112268C>G ENST00000453777.1 + 8 1026 c.856C>G c.(856-858)Cag>Gag p.Q286E LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.Q486E|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 486 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TCAGCACAGCCAGAGAAGCCT 0.552000 9 44 0 0 3.86212e-05 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33546309 33546309 + Splice_Site SNP T T A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr5:33546309T>A ENST00000504830.1 - 22 4638 c.e22-2 ADAMTS12_ENST00000352040.3_Splice_Site NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CCTGGAGCACTGATACACAGC 0.453000 HNSCC(64;0.19) 13 25 0 0 0.000308642 0 0 TENM4 26011 broad.mit.edu 37 11 78380400 78380400 + Silent SNP G G T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:78380400G>T ENST00000278550.7 - 32 7452 c.6990C>A c.(6988-6990)tcC>tcA p.S2330S NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TCTCAGAGCTGGAGTGGTTGT 0.552000 41 4029 0.000151284 0.00568262 0.000151284 1 0 KCTD21 283219 broad.mit.edu 37 11 77884952 77884952 + Missense_Mutation SNP T T G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:77884952T>G ENST00000340067.3 - 2 927 c.649A>C c.(649-651)Atc>Ctc p.I217L KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA NM_001029859.1 NP_001025030.1 Q4G0X4 KCD21_HUMAN potassium channel tetramerization domain containing 21 217 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2) 11 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.46e-24) AAGCTGTTGATCTGCTTGTTG 0.542000 51 4198 0 0 3.86212e-05 0 0 PAAF1 80227 broad.mit.edu 37 11 73610247 73610247 + Silent SNP C C T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:73610247C>T ENST00000544909.1 + 3 599 c.342C>T c.(340-342)gaC>gaT p.D114D PAAF1_ENST00000535604.1_5'UTR|PAAF1_ENST00000310571.3_Silent_p.D113D|PAAF1_ENST00000536003.1_Silent_p.D96D|PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000544552.1_Silent_p.D96D|PAAF1_ENST00000376384.5_Silent_p.D96D|PAAF1_ENST00000541951.1_5'UTR Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 113 interspecies interaction between organisms proteasome complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(11;7.42e-05) CTAGTACTGACGGGACCATGA 0.413000 11 887 0 0 2.17888e-05 0 0 VCX 26609 broad.mit.edu 37 X 7811760 7811760 + Silent SNP C C T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chrX:7811760C>T ENST00000381059.3 + 3 543 c.324C>T c.(322-324)gcC>gcT p.A108A VCX_ENST00000341408.4_Silent_p.A108A NM_013452.2 NP_038480.2 Q9H320 VCX1_HUMAN variable charge, X-linked 108 10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich. chromatin organization|ribosome assembly|spermatogenesis nucleolus chromatin binding NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) GTCAGGAGGCCGAGCTGGAGG 0.662000 8 231 0 0 3.86212e-05 0 0 PNMA3 29944 broad.mit.edu 37 X 152225755 152225755 + Missense_Mutation SNP C C T rs146193731 TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chrX:152225755C>T ENST00000447306.1 + 2 679 c.343C>T c.(343-345)Cgg>Tgg p.R115W PNMA3_ENST00000370264.4_Missense_Mutation_p.R115W|PNMA3_ENST00000370265.4_Missense_Mutation_p.R115W NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 115 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) ggaggagaggcggaccgtgtc 0.532000 24 18 0 0 0.000375601 0 0 CSK 1445 broad.mit.edu 37 15 75093892 75093892 + Silent SNP G G A TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr15:75093892G>A ENST00000220003.9 + 10 1572 c.843G>A c.(841-843)agG>agA p.R281R CSK_ENST00000567571.1_Silent_p.R281R|CSK_ENST00000309470.9_Silent_p.R281R|CSK_ENST00000439220.2_Silent_p.R281R NM_004383.2 NP_004374.1 P41240 CSK_HUMAN c-src tyrosine kinase 281 Protein kinase. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding central_nervous_system(1)|lung(2) 3 TGCGGTCTAGGGGTCGGTCAG 0.632000 13 79 0 0 0.000422831 0 0 TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 7 300 --- --- --- --- TEKT4 150483 broad.mit.edu 37 2 95539829 95539830 + Frame_Shift_Ins INS - - G rs149873671 TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr2:95539829_95539830insG ENST00000295201.4 + 3 826_827 c.689_690insG c.(688-690)ctafs p.L230fs AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 230 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.P230P(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 CAGGCTCATCCGTACTCCACCA 0.663 8 113 --- --- --- --- KCTD8 386617 broad.mit.edu 37 4 44450273 44450294 + Frame_Shift_Del DEL GCAGCTCGCCCCGGCGCCGGGC GCAGCTCGCCCCGGCGCCGGGC - TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr4:44450273_44450294delGCAGCTCGCCCCGGCGCCGGGC ENST00000360029.3 - 1 530_551 c.247_268delGCCCGGCGCCGGGGCGAGCTGC c.(247-270)ccfs p.ARRRGELP83fs NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 83 BTB. cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity p.R86L(1) central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 CTGTCCCTGGGCAGCTcgccccggcgccgggcgccgccACGG 0.658 HNSCC(17;0.042) 9 100 --- --- --- --- THSD7A 221981 broad.mit.edu 37 7 11871469 11871470 + In_Frame_Ins INS - - GCAGCG TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr7:11871469_11871470insGCAGCG ENST00000423059.3 - 1 354_355 c.103_104insCGCTGC c.(103-105)cct>CGCTGCcct p.34_35insRC NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 34 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) cagcagcaggagcagcggcagc 0.772 HNSCC(18;0.044) 10 29 --- --- --- --- DNAJB13 374407 broad.mit.edu 37 11 73676057 73676057 + Frame_Shift_Del DEL A A - TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:73676057delA ENST00000339764.1 + 4 1220 c.469delA c.(469-471)aafs p.K158fs DNAJB13_ENST00000537753.1_5'UTR|RP11-167N4.2_ENST00000537019.1_RNA|RP11-167N4.2_ENST00000540886.1_RNA NM_153614.2 NP_705842.2 P59910 DJB13_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 13 158 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding large_intestine(3)|lung(2) 5 Breast(11;7.42e-05) TGGCTGCACCAAAAAAATTAA 0.572 OREG0021218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 861 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 15 398 --- --- --- --- KCTD14 65987 broad.mit.edu 37 11 77734223 77734223 + Frame_Shift_Del DEL G G - TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr11:77734223delG ENST00000353172.5 - 1 117 c.73delC c.(73-75)ggfs p.R25fs KCTD14_ENST00000533144.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron|RP11-7I15.4_ENST00000526730.1_RNA NM_001203260.1|NM_001203262.1|NM_023930.3 NP_001190189.1|NP_001190191.1|NP_076419.2 Q9BQ13 KCD14_HUMAN potassium channel tetramerization domain containing 14 25 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) CGCCTGGGCCGGGGGGACTGG 0.687 9 2735 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 9 179 --- --- --- --- EFTUD2 9343 broad.mit.edu 37 17 42929088 42929089 + Frame_Shift_Ins INS - - G TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr17:42929088_42929089insG ENST00000426333.2 - 27 3109_3110 c.2812_2813insC c.(2812-2814)ccgfs p.P938fs EFTUD2_ENST00000592576.1_Frame_Shift_Ins_p.P928fs|EFTUD2_ENST00000591382.1_Frame_Shift_Ins_p.P938fs|EFTUD2_ENST00000402521.3_Frame_Shift_Ins_p.P903fs NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 938 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) CTTCCTACGGCGGGTTTTGATC 0.559 5 10 --- --- --- --- APOC1P1 342 broad.mit.edu 37 19 45431268 45431268 + RNA DEL A A - TCGA-ER-A19T-01A-11D-A19A-08 TCGA-ER-A19T-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1942d67-3c90-474e-9164-e76ddf9e335a e694c1a2-86f0-43d0-95cc-4cfaf0b04060 g.chr19:45431268delA ENST00000574565.1 + 0 402 NR_028412.1 GAACAGATTGAAAAAAAAAAC 0.527 2 4 --- --- --- ---