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 HECW1 23072 broad.mit.edu 37 7 43540839 43540839 + Silent SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr7:43540839C>T ENST00000395891.1 + 21 4154 c.3549C>T c.(3547-3549)taC>taT p.Y1183Y HECW1_ENST00000453890.1_Silent_p.Y1149Y NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1183 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TTATGTCCTACGTCCCCCTGC 0.438000 46 379 0 0 1 0 0 PCSK1N 27344 broad.mit.edu 37 X 48690597 48690597 + Missense_Mutation SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chrX:48690597C>T ENST00000218230.5 - 2 369 c.269G>A c.(268-270)cGg>cAg p.R90Q PCSK1N_ENST00000476838.1_Intron NM_013271.2 NP_037403.1 Q9UHG2 PCSK1_HUMAN proprotein convertase subtilisin/kexin type 1 inhibitor 90 ProSAAS(1-180) (By similarity). neuropeptide signaling pathway extracellular space|soluble fraction receptor binding GGCCCGCGCCCGCTCCTGACG 0.766000 3 40 0 0 1 0 0 GPHN 10243 broad.mit.edu 37 14 67576890 67576890 + Missense_Mutation SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr14:67576890C>T ENST00000478722.1 + 14 2448 c.1327C>T c.(1327-1329)Cgg>Tgg p.R443W GPHN_ENST00000543237.1_Missense_Mutation_p.R456W|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.R379W|GPHN_ENST00000315266.5_Missense_Mutation_p.R410W NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 410 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) ACAAGTCATGCGGGTTACAAC 0.453000 T MLL AL 7 542 0 0 1 0 0 RAD17 5884 broad.mit.edu 37 5 68669707 68669707 + Silent SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr5:68669707C>T ENST00000509734.1 + 4 771 c.93C>T c.(91-93)ggC>ggT p.G31G RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000305138.4_Silent_p.G20G|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000354312.3_Silent_p.G20G|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000354868.5_Silent_p.G20G|RAD17_ENST00000345306.6_Silent_p.G20G|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Silent_p.G31G|RAD17_ENST00000361732.2_Silent_p.G20G O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 31 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) AGTGTAGTGGCGTCTCTACTA 0.363000 Other conserved DNA damage response genes 47 324 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15673188 15673188 + Silent SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr12:15673188G>A ENST00000281171.4 + 10 2163 c.1833G>A c.(1831-1833)gtG>gtA p.V611V PTPRO_ENST00000348962.2_Silent_p.V611V NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 611 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) TTACCATGGTGACGTGGGGAG 0.483000 121 463 0 0 1 0 0 OCM 654231 broad.mit.edu 37 7 5923595 5923595 + Missense_Mutation SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr7:5923595C>T ENST00000242104.5 + 3 361 c.269C>T c.(268-270)gCg>gTg p.A90V OCM_ENST00000416608.1_Missense_Mutation_p.A90V NM_001097622.1 NP_001091091.1 P0CE72 ONCO_HUMAN oncomodulin 90 EF-hand 2. calcium ion binding endometrium(1)|large_intestine(3)|lung(2) 6 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14) ATGGCTGCGGCGGATAATGAT 0.498000 7 129 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196825327 196825327 + Missense_Mutation SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr2:196825327G>A ENST00000312428.6 - 18 2648 c.2548C>T c.(2548-2550)Cgc>Tgc p.R850C NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 850 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.R850C(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TGCCTGGGGCGCAAACCAGGA 0.453000 8 647 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.527000 T MLL ALL 5 211 0 0 1 0 0 ASB2 51676 broad.mit.edu 37 14 94405527 94405527 + Missense_Mutation SNP T T G TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr14:94405527T>G ENST00000555019.1 - 8 1974 c.1544A>C c.(1543-1545)cAc>cCc p.H515P ASB2_ENST00000315988.4_Missense_Mutation_p.H467P NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 467 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GGCCGGCGGGTGCGGGCCGTT 0.692000 9 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179643640 179643640 + Missense_Mutation SNP G G A rs144011561 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr2:179643640G>A ENST00000589042.1 - 24 4393 c.4169C>T c.(4168-4170)cCg>cTg p.P1390L TTN_ENST00000591111.1_Missense_Mutation_p.P1390L|TTN_ENST00000342992.6_Missense_Mutation_p.P1390L|TTN_ENST00000360870.5_Missense_Mutation_p.P1390L|TTN_ENST00000342175.6_Missense_Mutation_p.P1344L|TTN_ENST00000359218.5_Missense_Mutation_p.P1344L|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P1344L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1390 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATGTAAGTCGGAGCTCCAAG 0.388000 17 318 0 0 1 0 0 COG3 83548 broad.mit.edu 37 13 46066374 46066374 + Silent SNP A A T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr13:46066374A>T ENST00000349995.5 + 11 1288 c.1176A>T c.(1174-1176)acA>acT p.T392T COG3_ENST00000465942.1_3'UTR NM_031431.3 NP_113619.2 Q96JB2 COG3_HUMAN component of oligomeric golgi complex 3 392 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1) 24 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) CAAAACCAACATCAAAATTAG 0.353000 15 158 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413312 178413312 + Missense_Mutation SNP G G A rs61733863 byFrequency TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr5:178413312G>A ENST00000231188.5 - 8 2121 c.1943C>T c.(1942-1944)gCg>gTg p.A648V RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.A648V NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 648 detection of visible light|visual perception integral to plasma membrane p.A648V(1) NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GGCACAGACCGCGGCCCCAGG 0.642000 7 142 0 0 1 0 0 SVILP1 0 broad.mit.edu 37 10 30986357 30986357 + RNA SNP T T C rs117915096 by1000genomes TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr10:30986357T>C ENST00000435645.1 + 0 347 CGGCGCTCAATAGTGGGGACT 0.552000 3 72 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 7 262 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 13 85 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211532923 211532923 + Missense_Mutation SNP G G T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr2:211532923G>T ENST00000233072.5 + 34 4212 c.4016G>T c.(4015-4017)gGt>gTt p.G1339V CPS1_ENST00000451903.2_Missense_Mutation_p.G888V|CPS1_ENST00000430249.2_Missense_Mutation_p.G1345V NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1339 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GCTTGCTTTGGTGAAGGTATT 0.368000 26 366 2.44723e-14 2.63369e-14 1 1 0 TNFRSF10C 8794 broad.mit.edu 37 8 22960677 22960677 + Missense_Mutation SNP G G A rs147367612 byFrequency TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr8:22960677G>A ENST00000356864.3 + 1 575 c.43G>A c.(43-45)Gtc>Atc p.V15I TNFRSF10C_ENST00000540813.1_5'UTR|TNFRSF10C_ENST00000397703.2_Missense_Mutation_p.V55I|TNFRSF10C_ENST00000520607.1_Intron NM_003841.3 NP_003832.2 O14798 TR10C_HUMAN tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain 15 apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) CGTCGTCATCGTCGCGGTCCT 0.701000 6 60 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723522 49723522 + Missense_Mutation SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr3:49723522G>A ENST00000449682.2 - 9 1481 c.1120C>T c.(1120-1122)Cgt>Tgt p.R374C MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 360 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity p.R360C(2) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCTGTACAACGCCGGATCTGG 0.697000 7 115 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1266085 1266085 + Missense_Mutation SNP C C G TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr11:1266085C>G ENST00000447027.1 + 31 8042 c.7984C>G c.(7984-7986)Ccc>Gcc p.P2662A MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2659 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.P2638A(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACCCACACCCCCACAGTGCT 0.617000 3 121 0 0 1 0 0 GOLGA2B 0 broad.mit.edu 37 12 100559710 100559710 + RNA SNP T T G TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr12:100559710T>G ENST00000397112.4 - 0 599 NR_036632.1 large_intestine(1)|lung(3) 4 CAGAGGCTGGTGCCCGCCTTC 0.602000 9 70 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135813 156135813 + Missense_Mutation SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr4:156135813G>A ENST00000329476.3 + 2 1211 c.722G>A c.(721-723)cGc>cAc p.R241H NPY2R_ENST00000506608.1_Missense_Mutation_p.R241H NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 241 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) TCCTACACTCGCATTTGGAGT 0.448000 8 344 0 0 1 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110031576 110031576 + Silent SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr1:110031576G>A ENST00000369870.3 + 7 906 c.891G>A c.(889-891)gaG>gaA p.E297E NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 297 SCA7. breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) CTCCCAAGGAGAAGAGCCCAG 0.652000 12 268 0 0 1 0 0 LRRN2 10446 broad.mit.edu 37 1 204589069 204589069 + Missense_Mutation SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr1:204589069C>T ENST00000367175.1 - 1 2264 c.52G>A c.(52-54)Gcc>Acc p.A18T LRRN2_ENST00000367176.3_Missense_Mutation_p.A18T|LRRN2_ENST00000496057.1_5'UTR|LRRN2_ENST00000367177.3_Missense_Mutation_p.A18T O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 18 cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GGCACAGCGGCAGTGGCACCA 0.647000 9 98 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578413 7578413 + Missense_Mutation SNP C C G TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr17:7578413C>G ENST00000420246.2 - 5 649 c.517G>C c.(517-519)Gtg>Ctg p.V173L TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000269305.4_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 173 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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) CAGCGCCTCACAACCTCCGTC 0.662000 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) 36 239 0 0 1 0 0 APOBR 55911 broad.mit.edu 37 16 28509280 28509280 + Missense_Mutation SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr16:28509280G>A ENST00000564831.1 + 2 2951 c.2918G>A c.(2917-2919)gGc>gAc p.G973D APOBR_ENST00000328423.5_Missense_Mutation_p.G964D|APOBR_ENST00000431282.1_Missense_Mutation_p.G964D NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 964 cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 GAGGCCATGGGCAGTGCCAGA 0.672000 29 181 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80667060 80667060 + Silent SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr16:80667060G>A ENST00000299564.8 - 3 845 c.690C>T c.(688-690)taC>taT p.Y230Y CDYL2_ENST00000563890.1_Silent_p.Y231Y|CDYL2_ENST00000566173.1_Silent_p.Y231Y|CDYL2_ENST00000562812.1_Silent_p.Y231Y NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 230 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 TGTCAAAGACGTAGTCCTTCT 0.502000 22 650 0 0 1 0 0 NRROS 375387 broad.mit.edu 37 3 196387199 196387199 + Missense_Mutation SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr3:196387199C>T ENST00000328557.4 + 3 888 c.685C>T c.(685-687)Cgg>Tgg p.R229W NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species CACGCGGCTGCGGGTCCTCAA 0.647000 13 305 0 0 1 0 0 TTLL9 164395 broad.mit.edu 37 20 30526969 30526969 + Silent SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr20:30526969C>T ENST00000375938.4 + 14 1396 c.1143C>T c.(1141-1143)gtC>gtT p.V381V TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000535842.1_Silent_p.V381V|TTLL9_ENST00000375934.4_3'UTR Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 381 protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGAAGCGAGTCGGGGGCTTTG 0.577000 43 395 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 6 49 0.217242 0.219182 1 1 0 PIK3CA 5290 broad.mit.edu 37 3 178917478 178917478 + Splice_Site SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr3:178917478G>A ENST00000263967.3 + 3 510 c.352_splice c.e3-1 p.G118_splice NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 118 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.G118D(26) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTTATTAAAGGTTTTGCTATC 0.338000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 35 228 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146207836 146207836 + Silent SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr6:146207836C>T ENST00000367503.3 - 30 5453 c.5055G>A c.(5053-5055)gaG>gaA p.E1685E SHPRH_ENST00000367505.2_Silent_p.E1681E|SHPRH_ENST00000275233.7_Silent_p.E1681E|SHPRH_ENST00000438092.2_Intron NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 1681 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TTCATTCAAGCTCTTCAGTTT 0.398000 6 215 0 0 1 0 0 ZNF618 114991 broad.mit.edu 37 9 116812071 116812071 + Missense_Mutation SNP G G T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr9:116812071G>T ENST00000288466.7 + 14 2309 c.2210G>T c.(2209-2211)tGt>tTt p.C737F ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.C830F NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 830 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 GGCAAGGTCTGTGAGCTCATC 0.652000 57 251 4.96213e-28 5.55169e-28 1 1 0 YAP1 10413 broad.mit.edu 37 11 101984938 101984938 + Missense_Mutation SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr11:101984938C>T ENST00000282441.5 + 2 773 c.385C>T c.(385-387)Cca>Tca p.P129S YAP1_ENST00000524575.1_5'UTR|YAP1_ENST00000526343.1_Missense_Mutation_p.P129S|YAP1_ENST00000345877.2_Missense_Mutation_p.P129S|YAP1_ENST00000531439.1_Missense_Mutation_p.P129S|YAP1_ENST00000537274.1_Missense_Mutation_p.P129S NM_001130145.2 NP_001123617.1 P46937 YAP1_HUMAN Yes-associated protein 1 129 cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 all_cancers(8;0.000575)|all_epithelial(12;0.00564) Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0189) TCATTCCTCTCCAGCTTCTCT 0.507000 10 295 0 0 1 0 0 CLCNKA 0 broad.mit.edu 37 1 16356526 16356526 + Missense_Mutation SNP G G A rs71587743 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr1:16356526G>A ENST00000375692.1 + 15 1492 c.1364G>A c.(1363-1365)gGa>gAa p.G455E CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G412E|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G455E|CLCNKA_ENST00000331433.4_Missense_Mutation_p.G455E P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 455 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) ATTGTGACTGGAGGGGTTACC 0.662000 15 298 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 5 169 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152469332 152469332 + Missense_Mutation SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr6:152469332G>A ENST00000367255.5 - 137 25425 c.24824C>T c.(24823-24825)cCg>cTg p.P8275L SYNE1_ENST00000354674.4_Missense_Mutation_p.P430L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8204L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P2799L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P7887L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P8275L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P8204L|SYNE1_ENST00000539504.1_Missense_Mutation_p.P430L|SYNE1_ENST00000347037.5_5'UTR NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8275 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CACACTAGCCGGGGTGTCTCG 0.617000 HNSCC(10;0.0054) 6 253 0 0 1 0 0 MAGT1 84061 broad.mit.edu 37 X 77112307 77112307 + Missense_Mutation SNP T T A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chrX:77112307T>A ENST00000358075.6 - 5 777 c.691A>T c.(691-693)Att>Ttt p.I231F NM_032121.5 NP_115497.4 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 199 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 17 AGTCCACCAATAACAGCCAAA 0.363000 34 482 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4228226 4228226 + Silent SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr4:4228226G>A ENST00000296358.4 - 1 390 c.366C>T c.(364-366)cgC>cgT p.R122R NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 122 biomineral tissue development extracellular space|integral to membrane p.R122R(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGTCCTTGAGGCGGAAGAGGC 0.716000 3 88 0 0 1 0 0 MEX3B 84206 broad.mit.edu 37 15 82335639 82335639 + Silent SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr15:82335639G>A ENST00000329713.4 - 2 2007 c.1572C>T c.(1570-1572)agC>agT p.S524S MEX3B_ENST00000558133.1_3'UTR NM_032246.3 NP_115622.2 Q6ZN04 MEX3B_HUMAN mex-3 RNA binding family member B 524 protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1) 19 CAATCACTTCGCTCTCGAAGC 0.637000 21 394 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54646728 54646728 + Missense_Mutation SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr19:54646728G>A ENST00000406403.1 + 1 1617 c.14G>A c.(13-15)cGc>cAc p.R5H CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H|CNOT3_ENST00000358389.3_5'UTR O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 5 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCGGACAAGCGCAAACTCCAA 0.527000 8 536 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66454976 66454976 + Missense_Mutation SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr11:66454976G>A ENST00000533211.1 - 35 6975 c.6644C>T c.(6643-6645)cCa>cTa p.P2215L SPTBN2_ENST00000309996.2_Missense_Mutation_p.P2215L|SPTBN2_ENST00000529997.1_Missense_Mutation_p.P2215L O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 2215 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CTGGGCAGATGGCTCTGGGCC 0.667000 56 506 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179576918 179576918 + Silent SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr2:179576918C>T ENST00000589042.1 - 96 27863 c.27639G>A c.(27637-27639)ccG>ccA p.P9213P TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.P8896P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.P7969P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8896 Ig-like 75. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACACCTTAACCGGCTCCAACT 0.443000 15 328 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6652947 6652947 + Missense_Mutation SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr11:6652947C>T ENST00000299441.3 - 7 3986 c.3575G>A c.(3574-3576)aGc>aAc p.S1192N RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1192 Cadherin 11. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCTGTGGTGCTGCGGGGTGG 0.617000 5 93 0 0 1 0 0 AVIL 10677 broad.mit.edu 37 12 58207947 58207947 + Silent SNP G G A rs141365699 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr12:58207947G>A ENST00000537081.1 - 2 107 c.108C>T c.(106-108)taC>taT p.Y36Y AVIL_ENST00000257861.3_Silent_p.Y43Y O75366 AVIL_HUMAN advillin 43 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) AGAGGATGACGTAGCAGTCCC 0.607000 8 111 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48372412 48372412 + Missense_Mutation SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr12:48372412C>T ENST00000380518.3 - 42 3027 c.2863G>A c.(2863-2865)Gag>Aag p.E955K COL2A1_ENST00000337299.6_Missense_Mutation_p.E886K|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 955 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TCTCCCTTCTCGCCAGGGGGT 0.637000 24 241 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15673198 15673198 + Missense_Mutation SNP G G C TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr12:15673198G>C ENST00000281171.4 + 10 2173 c.1843G>C c.(1843-1845)Gat>Cat p.D615H PTPRO_ENST00000348962.2_Missense_Mutation_p.D615H NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 615 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GACGTGGGGAGATCCAGAATT 0.478000 107 452 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 3 73 1 1 1 1 0 DYRK1B 9149 broad.mit.edu 37 19 40316442 40316442 + Silent SNP T T G TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr19:40316442T>G ENST00000593685.1 - 11 2271 c.1803A>C c.(1801-1803)ccA>ccC p.P601P DYRK1B_ENST00000430012.2_Silent_p.P561P|DYRK1B_ENST00000323039.5_Silent_p.P601P|DYRK1B_ENST00000348817.3_Silent_p.P573P|DYRK1B_ENST00000597639.1_Silent_p.P573P Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 601 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GCGGGAGGGGTGGACGACCTC 0.716000 8 55 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43411981 43411981 + Silent SNP G G T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr19:43411981G>T ENST00000187910.2 - 4 797 c.732C>A c.(730-732)acC>acA p.T244T PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Silent_p.T244T NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) AGTTGTTGATGGTGATGTAAG 0.478000 89 905 4.01556e-35 4.53759e-35 1 1 0 BCOR 54880 broad.mit.edu 37 X 39933048 39933048 + Silent SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chrX:39933048G>A ENST00000342274.4 - 4 1913 c.1551C>T c.(1549-1551)aaC>aaT p.N517N BCOR_ENST00000397354.3_Silent_p.N517N|BCOR_ENST00000378444.4_Silent_p.N517N|BCOR_ENST00000378455.4_Silent_p.N517N NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 517 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding p.N517N(1) breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TGTTCTCTTCGTTAGGACTTG 0.527000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 11 330 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711466 195711466 + RNA SNP G G T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr3:195711466G>T ENST00000427841.1 - 0 481 NR_003264.2 GCCCATCACCGCGACCATGGC 0.582000 4 257 0.014758 0.0151605 1 1 0 SVIP 258010 broad.mit.edu 37 11 22849412 22849412 + Missense_Mutation SNP T T G TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr11:22849412T>G ENST00000354193.4 - 2 179 c.63A>C c.(61-63)aaA>aaC p.K21N SVIP_ENST00000533774.1_5'UTR NM_148893.1 NP_683691.1 Q8NHG7 SVIP_HUMAN small VCP/p97-interacting protein 21 Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 3 GCTTTGCTCTTTTCTCTTCCT 0.274000 12 221 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42005706 42005706 + Missense_Mutation SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr7:42005706G>A ENST00000395925.3 - 15 3049 c.2965C>T c.(2965-2967)Cgg>Tgg p.R989W GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 989 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 AGGTGGCGCCGCCCGTAGCCG 0.766000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 12 60 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28194933 28194933 + Silent SNP T T C rs34890218 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr22:28194933T>C ENST00000302326.4 - 1 2553 c.1599A>G c.(1597-1599)caA>caG p.Q533Q NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 533 Poly-Gln. binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 gctgctgctgttgctgctgct 0.652000 T ETV6 """AML, meningioma""" 3 43 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20673951 20673951 + Silent SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr11:20673951C>T ENST00000525748.1 + 15 2460 c.2187C>T c.(2185-2187)atC>atT p.I729I SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 729 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) TCATCTGGATCCCAATTATGT 0.488000 25 770 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204416603 204416603 + Missense_Mutation SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr1:204416603C>T ENST00000367187.3 - 16 3006 c.2450G>A c.(2449-2451)cGc>cAc p.R817H PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R817H NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 817 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TTTAAGCTTGCGCTGGTCTTC 0.557000 52 245 0 0 1 0 0 FERMT1 55612 broad.mit.edu 37 20 6093196 6093196 + Missense_Mutation SNP T T G TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr20:6093196T>G ENST00000217289.4 - 4 1248 c.460A>C c.(460-462)Aaa>Caa p.K154Q FERMT1_ENST00000536936.1_5'UTR NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 154 FERM.|Poly-Lys. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 TTATTATTTTTGTCTTTTTTC 0.318000 26 526 0 0 1 0 0 APAF1 317 broad.mit.edu 37 12 99071230 99071230 + Silent SNP C C A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr12:99071230C>A ENST00000357310.1 + 13 2398 c.1821C>A c.(1819-1821)tcC>tcA p.S607S APAF1_ENST00000550527.1_Silent_p.S596S|APAF1_ENST00000549007.1_Silent_p.S607S|APAF1_ENST00000339433.3_Silent_p.S607S|APAF1_ENST00000359972.2_Silent_p.S596S|APAF1_ENST00000547045.1_Silent_p.S607S|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Silent_p.S607S|APAF1_ENST00000333991.1_Intron NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 607 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) CGAATCTTTCCCGCTTAGTTG 0.368000 11 319 0.0692343 0.0704818 1 1 0 AACS 65985 broad.mit.edu 37 12 125612743 125612743 + Missense_Mutation SNP A A C TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr12:125612743A>C ENST00000545511.1 + 3 5072 c.85A>C c.(85-87)Att>Ctt p.I29L AACS_ENST00000316543.10_Missense_Mutation_p.N47T|AACS_ENST00000316519.6_Missense_Mutation_p.N449T|AACS_ENST00000261686.6_Missense_Mutation_p.N449T Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 0 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) ATGGGCCACAATTTTTCTCTT 0.493000 24 133 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810584 7810584 + Nonsense_Mutation SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr19:7810584G>A ENST00000315599.7 - 4 590 c.568C>T c.(568-570)Cag>Tag p.Q190* CD209_ENST00000394173.4_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000601951.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000593660.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000204801.8_Nonsense_Mutation_p.Q146*|CD209_ENST00000601256.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000602261.1_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000315591.8_Nonsense_Mutation_p.Q166*|CD209_ENST00000301357.8_Intron|CD209_ENST00000354397.6_Nonsense_Mutation_p.Q190* NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 190 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TAGATCTCCTGCTGCTTAGAT 0.547000 43 730 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69260780 69260780 + Missense_Mutation SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr12:69260780G>A ENST00000551568.1 - 7 896 c.836C>T c.(835-837)aCg>aTg p.T279M CPM_ENST00000338356.3_Missense_Mutation_p.T279M|CPM_ENST00000546373.1_Missense_Mutation_p.T279M NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 279 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) CAGCTCCAACGTAATTTCAAA 0.383000 50 404 0 0 1 0 0 RNGTT 8732 broad.mit.edu 37 6 89388128 89388128 + Missense_Mutation SNP G G C TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr6:89388128G>C ENST00000369485.4 - 14 1636 c.1450C>G c.(1450-1452)Cag>Gag p.Q484E RNGTT_ENST00000369475.3_Missense_Mutation_p.Q484E|RNGTT_ENST00000265607.6_Missense_Mutation_p.Q461E|RNGTT_ENST00000538899.1_Missense_Mutation_p.Q401E NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 484 GTase. Q -> P (in Ref. 1; AAB91559). interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) CCAACATTCTGAGGAAGTAAC 0.294000 6 164 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46568662 46568662 + Splice_Site SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr11:46568662C>T ENST00000458649.2 - 4 797 c.e4+1 AMBRA1_ENST00000426438.1_Splice_Site|AMBRA1_ENST00000534300.1_Splice_Site|AMBRA1_ENST00000533727.1_Splice_Site|AMBRA1_ENST00000298834.3_Splice_Site|AMBRA1_ENST00000528950.1_Splice_Site|AMBRA1_ENST00000314845.3_Splice_Site Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GAAATACTCACGTGTAAATCC 0.463000 6 347 0 0 1 0 0 OGFOD3 79701 broad.mit.edu 37 17 80361874 80361874 + Missense_Mutation SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr17:80361874C>T ENST00000313056.5 - 7 789 c.638G>A c.(637-639)cGc>cAc p.R213H OGFOD3_ENST00000329197.5_Missense_Mutation_p.R213H NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 GCTGTTTATGCGGGAGAAGAA 0.642000 3 46 0 0 1 0 0 GNE 10020 broad.mit.edu 37 9 36217507 36217507 + Missense_Mutation SNP T T C TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr9:36217507T>C ENST00000396594.3 - 12 2228 c.2117A>G c.(2116-2118)tAt>tGt p.Y706C GNE_ENST00000539208.1_Missense_Mutation_p.Y565C|GNE_ENST00000539815.1_Missense_Mutation_p.Y675C|GNE_ENST00000447283.2_Missense_Mutation_p.Y601C|GNE_ENST00000377902.5_Missense_Mutation_p.Y675C|GNE_ENST00000543356.2_Missense_Mutation_p.Y670C NM_001128227.2 NP_001121699.1 Q9Y223 GLCNE_HUMAN glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 675 N-acetylmannosamine kinase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) AATGTGGATATAGTGACTGGC 0.552000 8 229 0 0 1 0 0 RP11-467H10.2 0 broad.mit.edu 37 7 76681226 76681226 + RNA SNP G G C TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr7:76681226G>C ENST00000459742.1 + 0 58 TGTCACACTTGAAGGAGGCAG 0.453000 5 31 0 0 1 0 0 ENPP5 59084 broad.mit.edu 37 6 46129388 46129388 + Missense_Mutation SNP G G T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr6:46129388G>T ENST00000371383.2 - 5 1369 c.1109C>A c.(1108-1110)tCc>tAc p.S370Y ENPP5_ENST00000230565.3_Missense_Mutation_p.S370Y Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) 370 extracellular region|integral to membrane hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 12 CAAATCTGTGGAGTTCATGGC 0.448000 42 1243 7.26314e-15 7.89168e-15 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 21 117 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34285425 34285425 + Missense_Mutation SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr1:34285425C>T ENST00000373381.4 - 9 1389 c.1213G>A c.(1213-1215)Gtc>Atc p.V405I NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 365 CUB 3. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTGAACTGGACGCTGGATCCT 0.592000 13 246 0 0 1 0 0 ZNF784 147808 broad.mit.edu 37 19 56133798 56133798 + Silent SNP A A C TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr19:56133798A>C ENST00000325351.4 - 2 330 c.291T>G c.(289-291)ggT>ggG p.G97G ZNF784_ENST00000591479.1_3'UTR NM_203374.1 NP_976308.1 Q8NCA9 ZN784_HUMAN zinc finger protein 784 97 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) TCGGGTCCCCACCCTGCCCGC 0.711000 6 57 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4153009 4153009 + Missense_Mutation SNP G G A rs149058628 byFrequency TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr7:4153009G>A ENST00000404826.2 + 24 3662 c.3523G>A c.(3523-3525)Gtg>Atg p.V1175M SDK1_ENST00000389531.3_Missense_Mutation_p.V1175M NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1175 Fibronectin type-III 6. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCCACCCGACGTGGCTCCAAC 0.612000 291 959 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089264 86089264 + Missense_Mutation SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr14:86089264G>A ENST00000330753.4 + 2 2173 c.1406G>A c.(1405-1407)cGc>cAc p.R469H FLRT2_ENST00000554746.1_Missense_Mutation_p.R469H NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 469 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) GTTCAGGAGCGCATAGTCAGC 0.507000 9 559 0 0 1 0 0 IGHG3 0 broad.mit.edu 37 14 106237582 106237582 + RNA SNP C C T rs2983776 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr14:106237582C>T ENST00000390551.2 - 0 160 GTAGGACAGCCGGGAAGGTGT 0.637000 4 229 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16956761 16956761 + RNA SNP C C G TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr1:16956761C>G ENST00000412962.1 - 0 294 CCTGGACCTGCCCTGGGGCAG 0.647000 4 44 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58208534 58208534 + Silent SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr13:58208534C>T ENST00000377918.3 + 1 1880 c.1854C>T c.(1852-1854)ggC>ggT p.G618G NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 618 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GCGACTTCGGCGAGAGCGGGC 0.657000 8 451 0 0 1 0 0 CDK3 1018 broad.mit.edu 37 17 73997474 73997474 + Translation_Start_Site SNP G G A rs2069528 by1000genomes TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr17:73997474G>A ENST00000425876.2 + 0 56 TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Intron Q00526 CDK3_HUMAN cyclin-dependent kinase 3 cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 CAAATTGCCCGGTGCCTTCTG 0.622000 5 131 0 0 1 0 0 WDR1 9948 broad.mit.edu 37 4 10080533 10080533 + Silent SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr4:10080533C>T ENST00000382452.2 - 12 1659 c.1377G>A c.(1375-1377)acG>acA p.T459T WDR1_ENST00000502702.1_Silent_p.T319T|WDR1_ENST00000499869.2_Silent_p.T459T|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Silent_p.T319T NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 459 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CAATTGCCACCGTGTCCCCGC 0.592000 5 259 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 4 35 0 0 1 0 0 SEPT12 124404 broad.mit.edu 37 16 4836091 4836091 + Missense_Mutation SNP C C T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr16:4836091C>T ENST00000268231.8 - 3 445 c.182G>A c.(181-183)gGc>gAc p.G61D SEPT12_ENST00000396693.5_Missense_Mutation_p.G61D|SEPT12_ENST00000591861.1_5'UTR NM_144605.4 NP_653206.2 Q8IYM1 SEP12_HUMAN septin 12 61 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 CGTGGACTTGCCCAGCCCGCT 0.522000 16 172 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110765385 110765385 + Missense_Mutation SNP A A G TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr12:110765385A>G ENST00000395494.2 + 7 1140 c.577A>G c.(577-579)Atg>Gtg p.M193V ATP2A2_ENST00000539276.2_Missense_Mutation_p.M220V|ATP2A2_ENST00000308664.6_Missense_Mutation_p.M220V P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 220 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TGGGAAAGCTATGGGAGTGGT 0.463000 32 882 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64498737 64498737 + RNA SNP C C A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr7:64498737C>A ENST00000426828.1 + 0 0 NR_033416.1 gaggcggtggcggcggcggca 0.786000 8 62 9.70103e-10 1.0245e-09 1 1 0 IGLC2 0 broad.mit.edu 37 22 23243367 23243367 + RNA SNP T T C rs8033 by1000genomes TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr22:23243367T>C ENST00000390323.2 + 0 212 CCAGCAGCTATCTGAGCCTGA 0.587000 4 99 0 0 1 0 0 KRT7 3855 broad.mit.edu 37 12 52639214 52639214 + Missense_Mutation SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr12:52639214G>A ENST00000331817.5 + 7 1186 c.1003G>A c.(1003-1005)Gcc>Acc p.A335T RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR NM_005556.3 NP_005547.3 P08729 K2C7_HUMAN keratin 7 335 Coil 2.|Rod. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(357;0.105) GTTGGAGGCCGCCATTGCCGA 0.657000 4 134 0 0 1 0 0 HMGB4 127540 broad.mit.edu 37 1 34329991 34329991 + Missense_Mutation SNP G G A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr1:34329991G>A ENST00000522796.1 + 4 2104 c.199G>A c.(199-201)Gac>Aac p.D67N CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.D67N|HMGB4_ENST00000425537.1_3'UTR B2R4X7 B2R4X7_HUMAN high mobility group box 4 67 nucleus DNA binding NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGCCAAACTCGACAAAGCCCG 0.458000 62 584 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18896929 18896929 + Silent SNP A A G rs140363576 by1000genomes TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr16:18896929A>G ENST00000446231.2 - 7 1294 c.882T>C c.(880-882)tgT>tgC p.C294C SMG1_ENST00000565224.1_Silent_p.C268C|SMG1_ENST00000389467.3_Silent_p.C294C Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 294 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TAACACATTTACAAAGCAATT 0.373000 5 320 0 0 1 0 0 DCT 1638 broad.mit.edu 37 13 95095781 95095781 + Nonsense_Mutation SNP G G T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr13:95095781G>T ENST00000377028.5 - 7 1703 c.1290C>A c.(1288-1290)taC>taA p.Y430* DCT_ENST00000446125.1_Nonsense_Mutation_p.Y463* NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 430 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) GAACCATGTTGTACATCCGAT 0.463000 33 245 1.71298e-08 1.79228e-08 1 1 0 PADI6 353238 broad.mit.edu 37 1 17699379 17699380 + RNA INS - - AC rs10690473 by1000genomes TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr1:17699379_17699380insAC ENST00000434762.2 + 0 166 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TCGGAGAGCAAACACAGGGGTC 0.569 4 9 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47310359 47310360 + RNA INS - - T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr1:47310359_47310360insT ENST00000505841.1 - 0 1269 NR_002788.2 CAAAAACAAAACCCTAGATATT 0.421 8 76 --- --- --- --- EPS8L3 79574 broad.mit.edu 37 1 110300579 110300580 + Frame_Shift_Ins INS - - T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr1:110300579_110300580insT ENST00000369805.3 - 9 1050_1051 c.821_822insA c.(820-822)aaafs p.K274fs EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 273 cytoplasm protein binding p.N274fs*33(2) breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) CCTGGTCCTTGTTTTTTTTCCC 0.545 7 862 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 14 453 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145116147 145116148 + RNA INS - - A rs138980379 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr1:145116147_145116148insA ENST00000453618.1 + 0 1233_1234 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding AGTAGATTGTTATTTCGTTTTT 0.416 3 6 --- --- --- --- AC009499.1 0 broad.mit.edu 37 2 34041837 34041838 + RNA INS - - CCTCC rs140516377 by1000genomes TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr2:34041837_34041838insCCTCC ENST00000366209.2 + 0 68 tcttctcttctcctcccctccc 0.480 4 6 --- --- --- --- AC073218.1 0 broad.mit.edu 37 2 34722106 34722106 + RNA DEL C C - rs60359332 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr2:34722106delC ENST00000422558.1 + 0 475 ttttttttttcgacagggtct 0.418 2 4 --- --- --- --- ALMS1 7840 broad.mit.edu 37 2 73613032 73613037 + In_Frame_Del DEL GGAGGA GGAGGA - rs72319667 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr2:73613032_73613037delGGAGGA ENST00000264448.6 + 1 147_152 c.36_41delGGAGGA c.(34-42)ctg>ct p.LEE12del ALMS1_ENST00000409009.1_In_Frame_Del_p.LEE12del|ALMS1_ENST00000377715.1_In_Frame_Del_p.LEE12del NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 12 Glu-rich. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.E27_E28delEE(1)|p.E28_A29insE(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CGGGCGAGCTggaggaggaggaggag 0.694 5 2 --- --- --- --- AC097374.2 0 broad.mit.edu 37 2 95558422 95558423 + RNA INS - - T rs5832787 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr2:95558422_95558423insT ENST00000568768.1 - 0 476 ATCTGGACCCCGTTTGCAATCT 0.475 7 66 --- --- --- --- DUSP2 1844 broad.mit.edu 37 2 96809973 96809973 + Frame_Shift_Del DEL A A - TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr2:96809973delA ENST00000288943.4 - 3 735 c.650delT c.(649-651)tcfs p.F217fs NM_004418.3 NP_004409.1 Q05923 DUS2_HUMAN dual specificity phosphatase 2 217 endoderm formation|inactivation of MAPK activity|regulation of apoptosis nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity NS(1)|breast(1)|lung(2)|skin(1) 5 Ovarian(717;0.0228) CTTGTAGCGGAAAAGGCCCTC 0.602 7 598 --- --- --- --- PLA2R1 0 broad.mit.edu 37 2 160801441 160801442 + Frame_Shift_Ins INS - - T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr2:160801441_160801442insT ENST00000283243.7 - 28 4325_4326 c.4119_4120insA c.(4117-4122)aagcttfs p.L1374fs PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1374 C-type lectin 8. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CATATAAAGCCTTTTTTTTCTT 0.401 9 834 --- --- --- --- AC027119.1 0 broad.mit.edu 37 3 6147264 6147265 + RNA INS - - T rs28653365 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr3:6147264_6147265insT ENST00000425894.1 + 0 322 tccCCTCTCTCTTTTTTTTTTT 0.455 2 4 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr4:186544620_186544622delGGT ENST00000431808.1 - 14 2512_2514 c.1949_1951delACC c.(1948-1953)cgc>c p.HR650del SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 650 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ATGAggtggcggtggtggtggtg 0.522 8 370 --- --- --- --- ZNF318 24149 broad.mit.edu 37 6 43323502 43323502 + Frame_Shift_Del DEL T T - TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr6:43323502delT ENST00000361428.2 - 4 1647 c.1570delA c.(1570-1572)ggfs p.R526fs ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 526 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTACGTCGCCTTTTTTCCTGT 0.493 8 1767 --- --- --- --- HOXA11 3207 broad.mit.edu 37 7 27222462 27222462 + Frame_Shift_Del DEL T T - TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr7:27222462delT ENST00000006015.3 - 2 966 c.895delA c.(895-897)ttfs p.I299fs NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 299 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 TCTCTGTTAATTTTTTTTTCC 0.448 T NUP98 CML 7 743 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000465001.1_Intron|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 7 11 --- --- --- --- RP4-659J6.2 0 broad.mit.edu 37 7 139878082 139878089 + RNA DEL TCCCTCCC TCCCTCCC - rs57191915 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr7:139878082_139878089delTCCCTCCC ENST00000566699.1 + 0 1022_1029 NR_024451.1 cttccttccttccctccctccCTTTCCT 0.471 4 6 --- --- --- --- RP11-11N9.4 0 broad.mit.edu 37 8 32874028 32874029 + RNA INS - - GT rs141368832 by1000genomes TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr8:32874028_32874029insGT ENST00000500843.2 + 0 139 aatgagtgagagtgtgtgtgtg 0.480 4 4 --- --- --- --- STAU2 27067 broad.mit.edu 37 8 74507471 74507471 + Frame_Shift_Del DEL T T - TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr8:74507471delT ENST00000355780.5 - 10 1213 c.995delA c.(994-996)atfs p.N332fs STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 364 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding p.N332fs*67(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TTCTGCAGCATTTTTTTTGGC 0.328 10 493 --- --- --- --- CCDC26 0 broad.mit.edu 37 8 130486240 130486241 + RNA INS - - GCTTAACATG rs146923907 by1000genomes TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr8:130486240_130486241insGCTTAACATG ENST00000446592.3 - 0 360 ggctcagctcagcttaacatgg 0.545 4 4 --- --- --- --- GRHPR 9380 broad.mit.edu 37 9 37424907 37424908 + Frame_Shift_Ins INS - - G rs150805048 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr9:37424907_37424908insG ENST00000607784.1 + 2 154_155 c.149_150insG c.(148-150)gggfs p.G50fs GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Frame_Shift_Ins_p.G50fs Q9UBQ7 GRHPR_HUMAN glyoxylate reductase/hydroxypyruvate reductase 50 cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process peroxisomal matrix glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GBM - Glioblastoma multiforme(29;0.00687) CGAGGTGTGGCGGGGGCCCACG 0.658 10 330 --- --- --- --- LINC00475 0 broad.mit.edu 37 9 94904432 94904432 + RNA DEL G G - rs58003635 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr9:94904432delG ENST00000416438.2 + 0 184 NR_027341.1 GGCCTTCTTTGGGGGGGGGGT 0.612 8 7 --- --- --- --- LYZL1 84569 broad.mit.edu 37 10 29599965 29599965 + Frame_Shift_Del DEL A A - TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr10:29599965delA ENST00000375500.3 + 5 619 c.562delA c.(562-564)aafs p.K189fs NM_032517.4 NP_115906.3 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 143 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1) 11 Breast(68;0.203) GTCCGAGTGGAAAAAAGGCTG 0.512 7 1022 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55582841 55582842 + Frame_Shift_Ins INS - - A TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr10:55582841_55582842insA ENST00000361849.3 - 34 5044_5045 c.4650_4651insT c.(4648-4653)tttagafs p.R1551fs PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Frame_Shift_Ins_p.R1546fs|PCDH15_ENST00000395433.1_Frame_Shift_Ins_p.R1526fs|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Frame_Shift_Ins_p.R1549fs|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Frame_Shift_Ins_p.R1509fs|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Frame_Shift_Ins_p.R1480fs NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1549 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AATGGGTCTACAAAATCTGTTC 0.411 HNSCC(58;0.16) 61 752 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129904534 129904535 + Frame_Shift_Ins INS - - T TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr10:129904534_129904535insT ENST00000368654.3 - 13 5944_5945 c.5569_5570insA c.(5569-5571)actfs p.T1857fs MKI67_ENST00000368653.3_Frame_Shift_Ins_p.T1497fs NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1857 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTTGCAGAGTATTTTTTTGGTA 0.480 7 1379 --- --- --- --- RP11-116N8.1 0 broad.mit.edu 37 14 36463320 36463321 + RNA INS - - CTTT rs10667379 by1000genomes TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr14:36463320_36463321insCTTT ENST00000550089.1 + 0 242 ttccttccttcctttctttctt 0.396 4 6 --- --- --- --- RP11-522B15.3 0 broad.mit.edu 37 15 96920150 96920173 + RNA DEL TCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTT - rs59076320 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr15:96920150_96920173delTCTTTCTTTCTTTCTTTCTTTCTT ENST00000558499.1 + 0 123 ctttcttttctctttctttctttctttctttctttctttctttc 0.321 3 3 --- --- --- --- CTC-297N7.5 0 broad.mit.edu 37 17 10647269 10647270 + RNA INS - - CTTC rs56218112 by1000genomes TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr17:10647269_10647270insCTTC ENST00000583343.1 + 0 144 CTC-297N7.5_ENST00000581366.1_RNA|CTC-297N7.9_ENST00000579529.2_lincRNA|TMEM220-AS1_ENST00000580899.1_RNA|CTC-297N7.5_ENST00000579114.1_RNA|CTC-297N7.5_ENST00000583012.1_RNA|CTC-297N7.5_ENST00000584714.1_RNA tccctccttctcttccttcctt 0.416 4 2 --- --- --- --- AC126365.1 0 broad.mit.edu 37 17 20623668 20623668 + RNA DEL T T - rs151078009 TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr17:20623668delT ENST00000578210.1 + 0 150 NR_073509.1 gcccggctaattttttttttt 0.572 4 8 --- --- --- --- USP36 57602 broad.mit.edu 37 17 76800004 76800004 + Frame_Shift_Del DEL T T - TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr17:76800004delT ENST00000312010.6 - 16 2597 c.2273delA c.(2272-2274)ccfs p.H758fs USP36_ENST00000542802.2_Frame_Shift_Del_p.H758fs|USP36_ENST00000449938.2_Frame_Shift_Del_p.H458fs NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 758 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CAATGTGGGGTGGGGGCTGAA 0.627 7 341 --- --- --- --- GRIN3B 116444 broad.mit.edu 37 19 1009186 1009188 + In_Frame_Del DEL AGC AGC - TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr19:1009186_1009188delAGC ENST00000234389.3 + 9 2736_2738 c.2717_2719delAGC c.(2716-2721)gag>g p.EQ906del NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 906 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCCGAGGTGGagcagcagcagca 0.744 8 11 --- --- --- --- PLEKHA4 0 broad.mit.edu 37 19 49355519 49355530 + In_Frame_Del DEL GTCTCTCTTAAG GTCTCTCTTAAG - rs147150671 byFrequency TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chr19:49355519_49355530delGTCTCTCTTAAG ENST00000263265.6 - 13 1935_1946 c.1380_1391delCTTAAGAGAGAC c.(1378-1392)acg>ac p.TLRET460del PLEKHA4_ENST00000355496.5_In_Frame_Del_p.TLRET435del NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 460 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GTACTCCAGCGTCTCTCTTAAGGTGCCCAGCT 0.566 22 464 --- --- --- --- PLXNA3 55558 broad.mit.edu 37 X 153688565 153688565 + Frame_Shift_Del DEL G G - TCGA-FZ-5919-01A-11D-1609-08 TCGA-FZ-5919-11A-02D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82303e3b-eeef-43ac-8d4a-85794482fd12 157c9dc6-2898-426a-b99e-03583bbff508 g.chrX:153688565delG ENST00000369682.3 + 2 217 c.42delG c.(40-42)gtfs p.V14fs NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 14 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity p.A17fs*39(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCCTTGCCGTGGGGGGGGCCC 0.682 8 689 --- --- --- ---