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 MAP2 4133 broad.mit.edu 37 2 210570428 210570428 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:210570428C>T ENST00000360351.4 + 11 5215 c.4709C>T c.(4708-4710)tCt>tTt p.S1570F MAP2_ENST00000392194.1_Missense_Mutation_p.S214F|MAP2_ENST00000447185.1_Missense_Mutation_p.S1566F|MAP2_ENST00000199940.6_Missense_Mutation_p.S271F|MAP2_ENST00000361559.4_Missense_Mutation_p.S214F|MAP2_ENST00000475600.1_3'UTR NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1570 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity p.S1570F(1)|p.S271F(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGTTCTATCTCTTCTTCAGCA 0.418000 20 80 0 0 0.108266 0 0 PRLR 5618 broad.mit.edu 37 5 35065370 35065370 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:35065370G>T ENST00000382002.5 - 10 2116 c.1690C>A c.(1690-1692)Cca>Aca p.P564T PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.P463T|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P463T|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_3'UTR NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 564 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity p.P564T(1) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TTAGCATGTGGATCTGGCACC 0.522000 4 80 0.014758 0.0150896 0.014758 1 0 PLXDC1 57125 broad.mit.edu 37 17 37239790 37239790 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:37239790C>G ENST00000315392.4 - 9 1122 c.911G>C c.(910-912)tGc>tCc p.C304S PLXDC1_ENST00000539608.1_Intron|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.C264S|PLXDC1_ENST00000394316.2_Missense_Mutation_p.C304S NM_020405.4 NP_065138.2 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 304 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction p.C304S(1) kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 ATGCTGCAGGCAGGCTGCAAG 0.572000 8 13 0 0 0.047766 0 0 ZNF479 90827 broad.mit.edu 37 7 57188723 57188723 + Silent SNP A A T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:57188723A>T ENST00000331162.4 - 5 669 c.399T>A c.(397-399)ggT>ggA p.G133G NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G133G(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CCTCATATTCACCCACACTTT 0.338000 46 91 0 0 0.048971 0 0 RAB7L1 8934 broad.mit.edu 37 1 205740776 205740776 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:205740776C>G ENST00000367139.3 - 4 505 c.202G>C c.(202-204)Gag>Cag p.E68Q RAB7L1_ENST00000235932.4_Missense_Mutation_p.E68Q|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000414729.1_Missense_Mutation_p.E68Q|RAB7L1_ENST00000446390.2_Missense_Mutation_p.E44Q|RAB7L1_ENST00000468887.1_Intron NM_003929.2 NP_003920.1 O14966 RAB7L_HUMAN RAB7, member RAS oncogene family-like 1 68 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.E68Q(1) endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 10 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0194) GTGAAGCGCTCCTGCCCTGGG 0.522000 45 134 0 0 0.042209 0 0 WHSC1 7468 broad.mit.edu 37 4 1976612 1976612 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:1976612C>T ENST00000382895.3 + 21 3826 c.3395C>T c.(3394-3396)cCc>cTc p.P1132L WHSC1_ENST00000382892.2_Missense_Mutation_p.P1132L|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Missense_Mutation_p.P1132L|WHSC1_ENST00000382888.3_Missense_Mutation_p.P480L|WHSC1_ENST00000508803.1_Missense_Mutation_p.P1132L NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 1132 SET. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.P1132L(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GACGCTGGCCCCAAAGGAAAC 0.453000 T IGH@ MM 4 175 0 0 0.014758 0 0 INPP4B 8821 broad.mit.edu 37 4 143081533 143081533 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:143081533G>A ENST00000513000.1 - 18 1974 c.1541C>T c.(1540-1542)tCa>tTa p.S514L INPP4B_ENST00000308502.4_Missense_Mutation_p.S514L|INPP4B_ENST00000509777.1_Missense_Mutation_p.S514L|INPP4B_ENST00000262992.4_Missense_Mutation_p.S514L|INPP4B_ENST00000508116.1_Missense_Mutation_p.S514L NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 514 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity p.S514L(1) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) ATCATAGTCTGAATGATGTGG 0.473000 14 68 0 0 0.020292 0 0 DOCK4 9732 broad.mit.edu 37 7 111617307 111617307 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:111617307G>A ENST00000428084.1 - 8 853 c.581C>T c.(580-582)cCg>cTg p.P194L DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.P194L Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 194 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding p.P194L(1)|p.P182L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) GGCCTGCACCGGGGTGTCTTT 0.498000 4 15 0 0 0.009096 0 0 DMD 1756 broad.mit.edu 37 X 32563307 32563307 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:32563307G>T ENST00000357033.4 - 17 2343 c.2137C>A c.(2137-2139)Cag>Aag p.Q713K DMD_ENST00000378677.2_Missense_Mutation_p.Q709K|DMD_ENST00000288447.4_Missense_Mutation_p.Q705K NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 713 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.Q709K(1)|p.Q713K(1)|p.Q708K(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ACAGTAATCTGCCTCTTCTTT 0.423000 12 16 3.27435e-08 3.54722e-08 0.020292 1 0 TTN 7273 broad.mit.edu 37 2 179425729 179425729 + Missense_Mutation SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:179425729A>G ENST00000589042.1 - 326 85354 c.85130T>C c.(85129-85131)aTa>aCa p.I28377T TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I19504T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I26736T|TTN_ENST00000342992.6_Missense_Mutation_p.I25809T|TTN_ENST00000460472.2_Missense_Mutation_p.I19312T|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I19437T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26736 Fibronectin type-III 106. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.I25809T(1)|p.I19504T(1)|p.I25807T(1)|p.I19437T(1)|p.I19312T(1) 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) GTCTGCATTTATCTTAAGGAC 0.428000 72 115 0 0 0.048971 0 0 SLC20A1 6574 broad.mit.edu 37 2 113414815 113414815 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:113414815G>A ENST00000272542.3 + 6 1314 c.775G>A c.(775-777)Gaa>Aaa p.E259K SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 259 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity p.E259K(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 GAGAAAAATTGAACGTAAGTA 0.378000 5 78 0 0 0.029380 0 0 CRTC3 64784 broad.mit.edu 37 15 91172586 91172586 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:91172586C>T ENST00000420329.2 + 11 1235 c.1088C>T c.(1087-1089)tCg>tTg p.S363L RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.S363L NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 363 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.S363L(2) CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) CTTCACCCTTCGCTCCGTCTG 0.552000 T MAML2 salivary gland mucoepidermoid 95 415 0 0 0.048971 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45244880 45244880 + Nonsense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:45244880C>T ENST00000352766.7 + 15 1447 c.1447C>T c.(1447-1449)Cga>Tga p.R483* ARHGAP8_ENST00000389773.5_Nonsense_Mutation_p.R395*|PRR5-ARHGAP8_ENST00000361473.5_Nonsense_Mutation_p.R404*|ARHGAP8_ENST00000356099.6_Nonsense_Mutation_p.R273*|ARHGAP8_ENST00000389774.2_Nonsense_Mutation_p.R304*|ARHGAP8_ENST00000336963.4_Nonsense_Mutation_p.R273*|ARHGAP8_ENST00000517296.3_Nonsense_Mutation_p.R483* p.R304*(1)|p.R309*(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 GACCTTCCTGCGAGAGCTGCC 0.617000 5 194 0 0 0.014758 0 0 TECTA 7007 broad.mit.edu 37 11 120996139 120996139 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:120996139C>T ENST00000392793.1 + 8 1603 c.1332C>T c.(1330-1332)taC>taT p.Y444Y TECTA_ENST00000264037.2_Silent_p.Y444Y O75443 TECTA_HUMAN tectorin alpha 444 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix p.Y444Y(1) TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCCAGCACTACGCCTCCATTT 0.488000 247 294 0 0 0.048971 0 0 TRPM1 4308 broad.mit.edu 37 15 31355390 31355390 + Missense_Mutation SNP A A T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:31355390A>T ENST00000542188.1 - 7 1260 c.947T>A c.(946-948)gTg>gAg p.V316E TRPM1_ENST00000397795.2_Missense_Mutation_p.V277E|TRPM1_ENST00000256552.6_Missense_Mutation_p.V299E NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 277 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity p.V277E(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) ATCACAAATCACCACAGGGAT 0.617000 44 67 0 0 0.048971 0 0 SPATA2 9825 broad.mit.edu 37 20 48523254 48523254 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:48523254C>T ENST00000422556.1 - 3 814 c.465G>A c.(463-465)gaG>gaA p.E155E SPATA2_ENST00000289431.5_Silent_p.E155E|SPATA2_ENST00000543716.1_Silent_p.E18E NM_001135773.1 NP_001129245.1 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 155 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus p.E155E(1) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) CCTGGAGGGTCTCCACGAGCT 0.527000 21 47 0 0 0.099896 0 0 SV2A 9900 broad.mit.edu 37 1 149885007 149885007 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:149885007C>A ENST00000369146.3 - 2 876 c.386G>T c.(385-387)gGg>gTg p.G129V SV2A_ENST00000369145.1_Missense_Mutation_p.G129V NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 129 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.G129V(1) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GGGACCCTCCCCATCACTCAA 0.657000 24 214 1.64293e-13 1.91063e-13 0.083992 1 0 ROBO3 64221 broad.mit.edu 37 11 124740078 124740078 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:124740078C>T ENST00000397801.1 + 5 976 c.784C>T c.(784-786)Cgc>Tgc p.R262C ROBO3_ENST00000538940.1_Missense_Mutation_p.R240C NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 262 Ig-like C2-type 3. axon midline choice point recognition integral to membrane receptor activity p.R262C(2) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CTCATTCCTGCGCAGACCAGT 0.552000 9 116 0 0 0.058154 0 0 GRM8 2918 broad.mit.edu 37 7 126173585 126173585 + Silent SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:126173585T>C ENST00000339582.2 - 9 2659 c.1851A>G c.(1849-1851)tcA>tcG p.S617S GRM8_ENST00000358373.3_Silent_p.S617S|GRM8_ENST00000444921.2_Silent_p.S617S|GRM8_ENST00000480995.1_5'UTR O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 617 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane p.S617S(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GTTCGCGTCCTGAAGCCCTCA 0.453000 HNSCC(24;0.065) 3 63 0 0 0.014758 0 0 MARCH1 55016 broad.mit.edu 37 4 164534638 164534638 + Missense_Mutation SNP A A T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:164534638A>T ENST00000339875.5 - 1 48 c.19T>A c.(19-21)Tgt>Agt p.C7S MARCH1_ENST00000503008.1_Intron|MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000274056.7_Intron NM_017923.3 NP_060393.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 0 Responsible for low stability (By similarity). antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding p.C7S(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AAATTACAACAAACGTGGCTG 0.353000 9 43 0 0 0.047766 0 0 MUC2 4583 broad.mit.edu 37 11 1078320 1078320 + Missense_Mutation SNP G G A rs72652894 TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:1078320G>A ENST00000441003.2 + 5 634 c.607G>A c.(607-609)Gat>Aat p.D203N MUC2_ENST00000359061.5_Missense_Mutation_p.D203N NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 203 VWFD 1. inner mucus layer|outer mucus layer protein binding p.D203N(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CAACCAGCCCGATGTGGTGTG 0.672000 21 109 0 0 0.091800 0 0 RGS22 26166 broad.mit.edu 37 8 101105679 101105679 + Missense_Mutation SNP A A C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:101105679A>C ENST00000360863.6 - 3 307 c.113T>G c.(112-114)cTt>cGt p.L38R RGS22_ENST00000523437.1_Missense_Mutation_p.L38R|RGS22_ENST00000523287.1_5'UTR NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 38 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.L38R(2) RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ACTCACTGGAAGGCTTAGGAA 0.279000 14 30 0 0 0.028581 0 0 GK2 2712 broad.mit.edu 37 4 80329119 80329119 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:80329119T>C ENST00000358842.3 - 1 253 c.236A>G c.(235-237)aAt>aGt p.N79S NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 79 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity p.N79S(1) autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 TATATCAATATTCAGTTCGTC 0.428000 83 104 0 0 0.048971 0 0 LDHAL6A 160287 broad.mit.edu 37 11 18497989 18497989 + Silent SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:18497989T>C ENST00000280706.2 + 5 1448 c.651T>C c.(649-651)gaT>gaC p.D217D TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Silent_p.D217D NM_144972.4 NP_659409.2 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 217 glycolysis cytoplasm binding|L-lactate dehydrogenase activity p.D217D(1) large_intestine(3)|lung(9)|urinary_tract(1) 13 NADH(DB00157) TGAACCCAGATATAGGAACTG 0.413000 17 113 0 0 0.049695 0 0 GPR112 139378 broad.mit.edu 37 X 135433623 135433623 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:135433623G>C ENST00000394143.1 + 7 7036 c.6745G>C c.(6745-6747)Gaa>Caa p.E2249Q GPR112_ENST00000412101.1_Missense_Mutation_p.E2044Q|GPR112_ENST00000394141.1_Missense_Mutation_p.E2044Q|GPR112_ENST00000370652.1_Missense_Mutation_p.E2249Q|GPR112_ENST00000287534.4_Intron NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2249 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.E2249Q(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTACAATGTTGAAATGAGCTT 0.294000 3 21 0 0 0.004672 0 0 KRT73 319101 broad.mit.edu 37 12 53012171 53012171 + Silent SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:53012171C>G ENST00000305748.3 - 1 172 c.138G>C c.(136-138)cgG>cgC p.R46R NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 46 Gly-rich.|Head. keratin filament structural molecule activity p.R46R(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TGTAAAGGCTCCGACTGCTGA 0.662000 4 132 0 0 0.021553 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266124 41266124 + Missense_Mutation SNP A A G rs121913412 TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr3:41266124A>G ENST00000349496.5 + 3 401 c.121A>G c.(121-123)Acc>Gcc p.T41A CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 41 T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TGGTGCCACTACCACAGCTCC 0.507000 T41A(CCK81_LARGE_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 11 16 0 0 0.020292 0 0 SULF2 55959 broad.mit.edu 37 20 46319006 46319006 + Missense_Mutation SNP C C T rs149783473 TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:46319006C>T ENST00000359930.4 - 5 1452 c.601G>A c.(601-603)Gtg>Atg p.V201M SULF2_ENST00000484875.1_Missense_Mutation_p.V201M|SULF2_ENST00000361612.4_Missense_Mutation_p.V201M|SULF2_ENST00000467815.1_Missense_Mutation_p.V201M NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 201 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding p.V201M(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 AAGAAGCTCACGCTGTCATTG 0.582000 9 74 0 0 0.069234 0 0 ACP1 52 broad.mit.edu 37 2 277226 277226 + Splice_Site SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:277226G>T ENST00000272067.6 + 6 495 c.e6-1 ACP1_ENST00000272065.5_Splice_Site|ACP1_ENST00000484464.1_Splice_Site NM_007099.3 NP_009030.1 P24666 PPAC_HUMAN acid phosphatase 1, soluble cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity p.?(2) endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) TGTCCATTTAGGGGAATGACT 0.458000 51 156 1.04682e-39 1.32306e-39 0.048971 1 0 C2orf44 80304 broad.mit.edu 37 2 24260579 24260579 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:24260579G>C ENST00000295148.4 - 2 1843 c.1786C>G c.(1786-1788)Caa>Gaa p.Q596E C2orf44_ENST00000406895.3_Missense_Mutation_p.Q596E NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 596 protein binding p.Q596E(1) C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAAGATCTTGAGAGAGTGGA 0.403000 T ALK NSCLC 13 215 0 0 0.024245 0 0 OR10A4 283297 broad.mit.edu 37 11 6898297 6898297 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:6898297T>A ENST00000379829.2 + 1 442 c.419T>A c.(418-420)aTa>aAa p.I140K NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I140K(1) kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATGGGCCACATATCCTGTGCC 0.552000 12 47 0 0 0.080935 0 0 NLE1 54475 broad.mit.edu 37 17 33462471 33462471 + Splice_Site SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:33462471C>G ENST00000586869.1 - 9 1155 c.e9-1 NLE1_ENST00000360831.5_Splice_Site|NLE1_ENST00000442241.4_Splice_Site Q9NVX2 NLE1_HUMAN notchless homolog 1 (Drosophila) nucleolus p.?(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 22 Ovarian(249;0.17) GACCCTGGCCCTAGGGGAGGC 0.567000 13 27 0 0 0.083992 0 0 CHRM3 1131 broad.mit.edu 37 1 240071333 240071333 + Silent SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:240071333C>A ENST00000255380.4 + 5 1361 c.582C>A c.(580-582)gtC>gtA p.V194V NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 194 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity p.V194V(1) breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TGGCTTGGGTCATCTCCTTTG 0.507000 8 698 1.76689e-08 1.91985e-08 0.058154 1 0 SNX31 169166 broad.mit.edu 37 8 101608886 101608886 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:101608886C>G ENST00000311812.2 - 10 1109 c.959G>C c.(958-960)tGc>tCc p.C320S SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Missense_Mutation_p.C221S NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 320 cell communication|protein transport phosphatidylinositol binding p.C320S(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) GACCTGCCAGCACTTCACCCT 0.493000 56 87 0 0 0.048971 0 0 OR6C1 390321 broad.mit.edu 37 12 55714574 55714574 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:55714574T>C ENST00000379668.2 + 1 229 c.191T>C c.(190-192)tTc>tCc p.F64S NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F64S(1) endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 CTCAGAAATTTCTCCATATTA 0.403000 15 48 0 0 0.024245 0 0 PDE2A 5138 broad.mit.edu 37 11 72290425 72290425 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:72290425G>A ENST00000334456.5 - 27 2504 c.2259C>T c.(2257-2259)gaC>gaT p.D753D PDE2A_ENST00000540345.1_Silent_p.D744D|PDE2A_ENST00000376450.3_Silent_p.D497D|PDE2A_ENST00000544570.1_Silent_p.D746D|PDE2A_ENST00000444035.2_Silent_p.D744D|PDE2A_ENST00000418754.2_Silent_p.D638D NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 753 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding p.D753D(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) TGCGCTGATAGTCCTGAGGCG 0.602000 31 65 0 0 0.037714 0 0 SCARB2 950 broad.mit.edu 37 4 77116918 77116918 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:77116918C>G ENST00000264896.2 - 2 566 c.217G>C c.(217-219)Gag>Cag p.E73Q SCARB2_ENST00000452464.2_Missense_Mutation_p.E73Q NM_005506.3 NP_005497.1 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 73 cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity p.E73Q(1) breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1) 22 Lung(101;0.196) AGGATCTCCTCTGGATTGGTG 0.488000 7 127 0 0 0.029380 0 0 NUDT2 318 broad.mit.edu 37 9 34339067 34339067 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:34339067C>G ENST00000379158.2 + 4 388 c.30C>G c.(28-30)atC>atG p.I10M NUDT2_ENST00000346365.4_Missense_Mutation_p.I10M|NUDT2_ENST00000379155.5_Missense_Mutation_p.I10M NM_001161.4 NP_001152.1 P50583 AP4A_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 2 10 Nudix hydrolase. induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding p.I10M(1) lung(3) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) GCTTGATCATCTTCCGAAGAT 0.428000 27 145 0 0 0.030593 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76073178 76073178 + RNA SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:76073178C>A ENST00000395215.3 + 0 467 p.Y142*(1) CCACCCTTTACCATACTAAAC 0.493000 39 107 2.45108e-15 2.89673e-15 0.104719 1 0 ESYT2 57488 broad.mit.edu 37 7 158555808 158555808 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:158555808C>T ENST00000251527.5 - 10 1359 c.1294G>A c.(1294-1296)Gat>Aat p.D432N NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 460 C2 1. integral to membrane|plasma membrane p.D432N(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 GGGTCTTCATCAAAGAGCTCA 0.358000 9 39 0 0 0.093190 0 0 MORF4L1 10933 broad.mit.edu 37 15 79186452 79186452 + Missense_Mutation SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:79186452A>G ENST00000331268.5 + 11 1003 c.799A>G c.(799-801)Atg>Gtg p.M267V MORF4L1_ENST00000558502.1_Missense_Mutation_p.M140V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.M253V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.M228V|MORF4L1_ENST00000559345.1_Missense_Mutation_p.M140V|MORF4L1_ENST00000558746.1_Missense_Mutation_p.M201V|MORF4L1_ENST00000561171.1_Intron NM_206839.2 NP_996670.1 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 267 Sufficient for interaction with PHF12. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding p.M267V(1) breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 CTTCAACGTAATGTTGGGTAC 0.408000 53 86 0 0 0.048971 0 0 FAT4 79633 broad.mit.edu 37 4 126240611 126240611 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:126240611C>T ENST00000394329.3 + 1 3058 c.3045C>T c.(3043-3045)ttC>ttT p.F1015F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1015 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.F1015F(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATTCTCGATTCTTTAAAGTAC 0.393000 36 67 0 0 0.074837 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72050808 72050808 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:72050808G>A ENST00000378743.3 - 2 1230 c.872C>T c.(871-873)aCa>aTa p.T291I ZFC3H1_ENST00000548100.1_Missense_Mutation_p.T291I|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.T291I|ZFC3H1_ENST00000549407.1_5'UTR NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 291 RNA processing intracellular metal ion binding p.T291I(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTTGACTTGTGTTTTCTCCTC 0.363000 32 105 0 0 0.045705 0 0 COLGALT2 23127 broad.mit.edu 37 1 183908081 183908081 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:183908081C>A ENST00000361927.4 - 12 2066 c.1695G>T c.(1693-1695)caG>caT p.Q565H COLGALT2_ENST00000367520.3_Missense_Mutation_p.Q302H|COLGALT2_ENST00000546159.1_Intron|COLGALT2_ENST00000486375.1_Intron|COLGALT2_ENST00000367521.1_Missense_Mutation_p.Q173H NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 p.Q565H(1) GGTACCCCGGCTGGCCTGTGT 0.542000 51 138 5.82388e-19 7.01952e-19 0.048971 1 0 C10orf25 220979 broad.mit.edu 37 10 45496131 45496131 + Nonsense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:45496131G>T ENST00000298298.1 - 1 205 c.177C>A c.(175-177)taC>taA p.Y59* ZNF22_ENST00000298299.3_5'UTR NM_001039380.2 NP_001034469.2 Q5T742 CJ025_HUMAN chromosome 10 open reading frame 25 59 extracellular region p.Y59*(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1) 6 TTTGTGGAAAGTATGCAGTTT 0.473000 12 55 6.72482e-11 7.60197e-11 0.024245 1 0 FAM136A 84908 broad.mit.edu 37 2 70528037 70528037 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:70528037C>G ENST00000037869.3 - 2 241 c.163G>C c.(163-165)Gag>Cag p.E55Q FAM136A_ENST00000450256.1_3'UTR|FAM136A_ENST00000430566.1_Missense_Mutation_p.E162Q NM_032822.2 NP_116211.2 Q96C01 F136A_HUMAN family with sequence similarity 136, member A 55 mitochondrion protein binding p.E55Q(1)|p.E55*(1) breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 6 TGGCAGCGCTCGATGCACTGG 0.572000 31 177 0 0 0.041601 0 0 SLC4A10 57282 broad.mit.edu 37 2 162735721 162735721 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:162735721T>A ENST00000375514.5 + 9 1259 c.972T>A c.(970-972)gaT>gaA p.D324E SLC4A10_ENST00000535165.1_Missense_Mutation_p.D343E|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.D343E|SLC4A10_ENST00000272716.5_Missense_Mutation_p.D313E|SLC4A10_ENST00000421911.1_Missense_Mutation_p.D343E|SLC4A10_ENST00000415876.2_Missense_Mutation_p.D313E NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 343 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity p.D343E(1)|p.D313E(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AGTTCTTGGATCGAACAGTAG 0.443000 13 66 0 0 0.028581 0 0 AHNAK 79026 broad.mit.edu 37 11 62300197 62300197 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:62300197G>A ENST00000378024.4 - 5 1966 c.1692C>T c.(1690-1692)acC>acT p.T564T AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 564 nervous system development nucleus protein binding p.T564T(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TACAGGTTCCGGTTTTCCCGG 0.517000 35 88 0 0 0.069456 0 0 PBX2 5089 broad.mit.edu 37 6 32156269 32156269 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:32156269C>G ENST00000375050.4 - 3 578 c.308G>C c.(307-309)cGg>cCg p.R103P NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 103 transcription factor binding p.R103S(1) endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 CTGGGAGCTCCGAATGCTGAG 0.627000 13 37 0 0 0.105934 0 0 GPR132 29933 broad.mit.edu 37 14 105517957 105517957 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:105517957C>T ENST00000329797.3 - 4 1428 c.517G>A c.(517-519)Gtt>Att p.V173I GPR132_ENST00000539291.2_Missense_Mutation_p.V173I|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Missense_Mutation_p.V164I NM_013345.2 NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 173 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity p.V173I(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) GGGTAGTGAACGATCCCGACG 0.627000 7 42 0 0 0.020292 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22259492 22259492 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:22259492G>A ENST00000344041.6 - 9 842 c.530C>T c.(529-531)tCt>tTt p.S177F RAPGEF5_ENST00000475788.1_5'UTR|RAPGEF5_ENST00000405243.1_Missense_Mutation_p.S330F NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 0 N-terminal Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity p.S177F(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 TACGTGTTCAGACTTCTCCTG 0.403000 6 71 0 0 0.021553 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 3 29 0 0 0.014758 0 0 RBM19 9904 broad.mit.edu 37 12 114358414 114358414 + Splice_Site SNP A A C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:114358414A>C ENST00000545145.2 - 19 2464 c.e19+1 RBM19_ENST00000261741.5_Splice_Site|RBM19_ENST00000392561.3_Splice_Site NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding p.?(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) tcTTCACTTTACCTGGAGCTG 0.522000 7 707 0 0 0.020292 0 0 RTTN 25914 broad.mit.edu 37 18 67697257 67697257 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr18:67697257C>T ENST00000255674.6 - 42 6022 c.5736G>A c.(5734-5736)ttG>ttA p.L1912L RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1912 binding p.L1912L(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) CCTTTTTTTTCAATGCTGCTT 0.398000 10 120 0 0 0.058154 0 0 LPHN3 23284 broad.mit.edu 37 4 62863911 62863911 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:62863911G>T ENST00000512091.1 + 20 3866 c.3119G>T c.(3118-3120)gGg>gTg p.G1040V LPHN3_ENST00000514996.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000506720.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000514591.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000507625.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000514157.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000506746.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000504896.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000508946.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000508693.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000506700.1_Missense_Mutation_p.G1040V|LPHN3_ENST00000509896.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000507164.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000511324.1_Missense_Mutation_p.G1108V|LPHN3_ENST00000545650.1_Missense_Mutation_p.G1040V Q9HAR2 LPHN3_HUMAN latrophilin 3 1027 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.G1040V(3) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 ATCTTCCTTGGGATTGCTTTA 0.303000 9 29 2.80697e-09 3.08682e-09 0.080935 1 0 PODXL2 50512 broad.mit.edu 37 3 127381120 127381120 + Missense_Mutation SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr3:127381120A>G ENST00000342480.6 + 4 1211 c.1172A>G c.(1171-1173)tAc>tGc p.Y391C NM_015720.2 NP_056535.1 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 391 leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding p.Y391C(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 26 GGGAAAAACTACATCATTCTG 0.552000 22 38 0 0 0.108266 0 0 SORCS1 114815 broad.mit.edu 37 10 108431055 108431055 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:108431055C>T ENST00000263054.6 - 16 2136 c.2129G>A c.(2128-2130)gGa>gAa p.G710E SORCS1_ENST00000369698.1_Missense_Mutation_p.G245E|SORCS1_ENST00000344440.6_Missense_Mutation_p.G710E NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 710 integral to membrane neuropeptide receptor activity|protein binding p.G710E(2) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGCATATTTTCCTTGCATACA 0.438000 5 124 0 0 0.014758 0 0 NEMF 9147 broad.mit.edu 37 14 50307515 50307515 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:50307515C>T ENST00000298310.5 - 5 876 c.427G>A c.(427-429)Gat>Aat p.D143N NEMF_ENST00000546046.1_Missense_Mutation_p.D143N|NEMF_ENST00000545773.1_Missense_Mutation_p.D101N|AL627171.1_ENST00000358799.1_Intron O60524 NEMF_HUMAN nuclear export mediator factor 143 cytoplasm|nucleus p.D143N(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 TTAACATCATCTGCCTCATCA 0.343000 6 87 0 0 0.038147 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886032 88886032 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:88886032C>G ENST00000319675.3 - 1 264 c.168G>C c.(166-168)agG>agC p.R56S NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 56 p.R56S(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GGACCTTTTTCCTCTGCATGC 0.502000 45 110 0 0 0.039052 0 0 CNOT6L 246175 broad.mit.edu 37 4 78652569 78652569 + Missense_Mutation SNP T T G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:78652569T>G ENST00000504123.1 - 9 1126 c.996A>C c.(994-996)ttA>ttC p.L332F CNOT6L_ENST00000264903.4_Missense_Mutation_p.L332F Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 332 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding p.L361F(1)|p.L332F(1) kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 TGTGGACCTCTAATACCACAG 0.388000 6 15 0 0 0.038147 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858806 149858806 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:149858806G>A ENST00000331380.2 + 1 282 c.282G>A c.(280-282)ctG>ctA p.L94L NM_003517.2 NP_003508.1 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 94 nucleosome assembly nucleosome|nucleus DNA binding p.L94L(2) NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1) 20 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) ACGAGGAACTGAACAAGCTGC 0.582000 17 188 0 0 0.076483 0 0 GALNT8 26290 broad.mit.edu 37 12 4872447 4872447 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:4872447C>G ENST00000252318.2 + 8 1725 c.1388C>G c.(1387-1389)tCt>tGt p.S463C NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 463 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.S463C(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 GGAGACGTTTCTTCCAGAATG 0.408000 5 119 0 0 0.021553 0 0 DHRS7C 201140 broad.mit.edu 37 17 9684874 9684874 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:9684874C>T ENST00000330255.4 - 2 204 c.192G>A c.(190-192)ctG>ctA p.L64L DHRS7C_ENST00000571134.1_Silent_p.L64L NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 64 extracellular region binding|oxidoreductase activity p.L64L(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 CACACAGCACCAGCCTTGCCC 0.567000 9 25 0 0 0.080935 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292953 102292953 + RNA SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:102292953T>C ENST00000561463.1 + 0 999 GGCACAGCGGTGCGACGAGAT 0.587000 3 11 0 0 0.021553 0 0 VMO1 284013 broad.mit.edu 37 17 4689248 4689248 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:4689248C>G ENST00000328739.5 - 2 374 c.295G>C c.(295-297)Gag>Cag p.E99Q VMO1_ENST00000416307.2_Intron|VMO1_ENST00000354194.4_Intron|VMO1_ENST00000441199.2_Missense_Mutation_p.E99Q NM_182566.2 NP_872372.1 Q7Z5L0 VMO1_HUMAN vitelline membrane outer layer 1 homolog (chicken) 99 vitelline membrane formation extracellular region p.E99Q(1) kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1) 11 GACTGGGACTCTACCACGTGC 0.612000 118 1239 0 0 0.048971 0 0 PYROXD1 79912 broad.mit.edu 37 12 21614019 21614019 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:21614019G>A ENST00000538582.1 + 8 1351 c.598G>A c.(598-600)Gag>Aag p.E200K PYROXD1_ENST00000545178.1_3'UTR|PYROXD1_ENST00000240651.9_Missense_Mutation_p.E271K Q8WU10 PYRD1_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 1 271 oxidoreductase activity p.E271K(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1) 18 CCTTCAGGATGAGTTTAGAAT 0.294000 7 37 0 0 0.038147 0 0 GLIS2 84662 broad.mit.edu 37 16 4382451 4382451 + Nonsense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr16:4382451C>G ENST00000262366.3 + 3 991 c.170C>G c.(169-171)tCa>tGa p.S57* GLIS2_ENST00000433375.1_Nonsense_Mutation_p.S57*|PAM16_ENST00000577031.1_Intron Q9BZE0 GLIS2_HUMAN GLIS family zinc finger 2 57 Interaction with CTNND1 (By similarity). cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development cytoplasm|nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding p.S57*(1) breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 11 TCCCCGCCCTCAGGTACTGGC 0.672000 3 32 0 0 0.014758 0 0 SDPR 8436 broad.mit.edu 37 2 192700900 192700900 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:192700900C>T ENST00000304141.4 - 2 1356 c.1027G>A c.(1027-1029)Gcc>Acc p.A343T NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 343 caveola|cytosol phosphatidylserine binding|protein binding p.A343T(1) NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) AGAGCGCTGGCGAGGGACGCT 0.552000 59 189 0 0 0.048971 0 0 USH2A 7399 broad.mit.edu 37 1 215848937 215848937 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:215848937C>T ENST00000366943.2 - 63 12702 c.12316G>A c.(12316-12318)Ggg>Agg p.G4106R USH2A_ENST00000307340.3_Missense_Mutation_p.G4106R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4106 Fibronectin type-III 26. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.G4106R(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCCAGGAACCCGTCACTGAAG 0.473000 HNSCC(13;0.011) 9 72 0 0 0.058154 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204228701 204228701 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:204228701T>A ENST00000272203.3 - 8 1008 c.692A>T c.(691-693)gAg>gTg p.E231V PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E251V NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 231 Pro-rich. p.E231L(1) breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) CACCGGAGGCTCTTTCTTGAC 0.647000 22 114 0 0 0.076483 0 0 KSR1 8844 broad.mit.edu 37 17 25950344 25950344 + Missense_Mutation SNP A A C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:25950344A>C ENST00000319524.6 + 21 2698 c.2698A>C c.(2698-2700)Aac>Cac p.N900H KSR1_ENST00000398988.3_3'UTR|KSR1_ENST00000578981.1_Missense_Mutation_p.L22F|KSR1_ENST00000268763.6_Missense_Mutation_p.N763H|KSR1_ENST00000582410.1_3'UTR Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 898 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.N900H(1)|p.N878H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) TTGCAGCATTAACAGCAGCAA 0.453000 6 29 0 0 0.038147 0 0 MDN1 23195 broad.mit.edu 37 6 90503650 90503650 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:90503650T>A ENST00000369393.3 - 5 801 c.686A>T c.(685-687)cAg>cTg p.Q229L MDN1_ENST00000428876.1_Missense_Mutation_p.Q229L Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 229 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.Q229L(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CTCCAAGTCCTGCAACTGGGC 0.498000 19 32 0 0 0.076483 0 0 KEAP1 9817 broad.mit.edu 37 19 10602840 10602840 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:10602840G>C ENST00000171111.5 - 3 1285 c.738C>G c.(736-738)ttC>ttG p.F246L KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.F246L NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 246 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.F246L(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TGCAGGCGTGGAAGACCTCGG 0.622000 26 42 0 0 0.108266 0 0 FAT3 120114 broad.mit.edu 37 11 92534374 92534374 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:92534374T>C ENST00000298047.6 + 9 8212 c.8195T>C c.(8194-8196)aTt>aCt p.I2732T FAT3_ENST00000525166.1_Missense_Mutation_p.I2582T|FAT3_ENST00000409404.2_Missense_Mutation_p.I2732T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2732 Cadherin 25. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.I2732T(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACCCTGAGGATTTTGCCCAGT 0.468000 TCGA Ovarian(4;0.039) 4 26 0 0 0.014758 0 0 PMFBP1 83449 broad.mit.edu 37 16 72158704 72158704 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr16:72158704C>A ENST00000537465.1 - 17 2724 c.2566G>T c.(2566-2568)Gcc>Tcc p.A856S PMFBP1_ENST00000537792.1_Missense_Mutation_p.A17S|PMFBP1_ENST00000355636.6_Missense_Mutation_p.A706S|PMFBP1_ENST00000237353.10_Missense_Mutation_p.A851S Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 856 p.A851S(1) NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TTTAAGGCGGCCATCTCCTCC 0.572000 OREG0023927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 72 156 5.32961e-40 6.7595e-40 0.048971 1 0 LRP1B 53353 broad.mit.edu 37 2 140992396 140992396 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:140992396T>C ENST00000389484.3 - 90 14589 c.13618A>G c.(13618-13620)Atc>Gtc p.I4540V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4540 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.I4540V(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) tttaggtagatgggcggcgct 0.418000 TSP Lung(27;0.18) 11 22 0 0 0.024245 0 0 MAVS 57506 broad.mit.edu 37 20 3845224 3845224 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:3845224C>T ENST00000428216.2 + 6 1075 c.947C>T c.(946-948)cCa>cTa p.P316L MAVS_ENST00000416600.2_Missense_Mutation_p.P175L|MAVS_ENST00000358134.6_3'UTR NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 316 activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity p.P316L(1) autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 CCTGCCAACCCAGCATCTGTC 0.572000 16 111 0 0 0.049695 0 0 BICD2 23299 broad.mit.edu 37 9 95481798 95481798 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:95481798G>A ENST00000356884.6 - 5 1196 c.1129C>T c.(1129-1131)Cgg>Tgg p.R377W BICD2_ENST00000375512.3_Missense_Mutation_p.R377W NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 377 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding p.R377W(1) cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 AGGGAGCCCCGCGTGTGCTCC 0.642000 7 22 0 0 0.069234 0 0 ZNF92 168374 broad.mit.edu 37 7 64852924 64852924 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:64852924G>A ENST00000328747.7 + 2 312 c.113G>A c.(112-114)aGa>aAa p.R38K ZNF92_ENST00000357512.2_Missense_Mutation_p.R38K|ZNF92_ENST00000450302.2_Intron|ZNF92_ENST00000431504.1_Intron NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 38 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R38K(1) breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) GAGAACTACAGAAACCTGGTC 0.363000 6 176 0 0 0.029380 0 0 MCMBP 79892 broad.mit.edu 37 10 121591603 121591603 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:121591603C>G ENST00000360003.3 - 15 1892 c.1723G>C c.(1723-1725)Gat>Cat p.D575H MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.D573H NM_001256378.1|NM_001256379.1|NM_024834.3 NP_001243307.1|NP_001243308.1|NP_079110.1 Q9BTE3 MCMBP_HUMAN minichromosome maintenance complex binding protein 575 cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding p.D575H(1) breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2) 21 ACAAAGTCATCTTCAACTGCC 0.428000 19 82 0 0 0.049695 0 0 CACNA1C 775 broad.mit.edu 37 12 2614019 2614019 + Silent SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:2614019C>G ENST00000399655.1 + 8 1390 c.1125C>G c.(1123-1125)gcC>gcG p.A375A CACNA1C_ENST00000335762.5_Silent_p.A375A|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399606.1_Silent_p.A375A|CACNA1C_ENST00000399595.1_Silent_p.A375A|CACNA1C_ENST00000399629.1_Silent_p.A375A|CACNA1C_ENST00000399637.1_Silent_p.A375A|CACNA1C_ENST00000399591.1_Silent_p.A375A|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000347598.4_Silent_p.A375A|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399649.1_Silent_p.A375A|CACNA1C_ENST00000399601.1_Silent_p.A375A|CACNA1C_ENST00000399644.1_Silent_p.A375A|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000480911.1_Silent_p.A375A|CACNA1C_ENST00000344100.3_Silent_p.A375A|CACNA1C_ENST00000402845.3_Silent_p.A375A|CACNA1C_ENST00000399597.1_Silent_p.A375A|CACNA1C_ENST00000399621.1_Silent_p.A375A|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000327702.7_Silent_p.A375A|CACNA1C_ENST00000399638.1_Silent_p.A375A|CACNA1C_ENST00000399641.1_Intron NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 375 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.A375A(2) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TCAATGATGCCGTAGGAAGGG 0.522000 7 37 0 0 0.047766 0 0 ME1 4199 broad.mit.edu 37 6 84025049 84025049 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:84025049G>A ENST00000369705.3 - 6 800 c.684C>T c.(682-684)ttC>ttT p.F228F ME1_ENST00000543031.1_Silent_p.F153F|ME1_ENST00000541327.1_Silent_p.F62F NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 228 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding p.F228F(1) NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) CTGCCTCCATGAATTCGTCCA 0.308000 7 64 0 0 0.058154 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227441855 227441855 + Splice_Site SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:227441855A>G ENST00000366769.3 - 2 1471 c.178_splice c.e2-1 p.A60_splice CDC42BPA_ENST00000366767.3_Splice_Site_p.A60_splice|CDC42BPA_ENST00000535525.1_Splice_Site_p.A60_splice|CDC42BPA_ENST00000366764.2_Splice_Site_p.A60_splice|CDC42BPA_ENST00000334218.5_Splice_Site_p.A60_splice|CDC42BPA_ENST00000366765.3_Splice_Site_p.A60_splice|CDC42BPA_ENST00000366766.2_Splice_Site_p.A60_splice NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 60 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.A60A(3) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) TAAATGGTTTAGCTGAAATGA 0.284000 7 54 0 0 0.047766 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19737487 19737487 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr21:19737487T>A ENST00000284885.3 - 7 776 c.743A>T c.(742-744)gAa>gTa p.E248V NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 248 CUB 1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity p.E248V(1) NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 AACACTTGTTTCAGAAGGTTT 0.373000 30 78 0 0 0.059317 0 0 CD99 4267 broad.mit.edu 37 X 2640679 2640679 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:2640679G>T ENST00000381192.3 + 6 456 c.274G>T c.(274-276)Gat>Tat p.D92Y CD99_ENST00000381184.1_Missense_Mutation_p.D92Y|CD99_ENST00000381187.3_Missense_Mutation_p.D76Y|CD99_ENST00000482405.2_3'UTR NM_001277710.1|NM_002414.3 NP_001264639.1|NP_002405.1 P14209 CD99_HUMAN CD99 molecule 92 cell adhesion cytoplasm|integral to plasma membrane p.D92Y(1)|p.D92H(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 11 TAGCTTTTCAGATGCTGACCT 0.448000 70 83 9.25274e-37 1.16138e-36 0.048971 1 0 SETX 23064 broad.mit.edu 37 9 135203286 135203286 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:135203286G>C ENST00000372169.2 - 10 3881 c.3699C>G c.(3697-3699)atC>atG p.I1233M SETX_ENST00000224140.5_Missense_Mutation_p.I1233M|SETX_ENST00000393220.1_Missense_Mutation_p.I1233M Q7Z333 SETX_HUMAN senataxin 1233 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity p.I1233M(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) GAACTTTCCTGATGGGTTCTG 0.388000 8 144 0 0 0.069234 0 0 KRT4 3851 broad.mit.edu 37 12 53202129 53202129 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:53202129G>A ENST00000293774.4 - 6 1566 c.1296C>T c.(1294-1296)ctC>ctT p.L432L KRT4_ENST00000458244.2_Silent_p.L338L|KRT4_ENST00000551956.1_Silent_p.L358L B4DRS2 B4DRS2_HUMAN keratin 4 358 keratin filament structural molecule activity p.L432L(1) endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 TCATCCTGTTGAGCTCTGCAA 0.537000 68 169 0 0 0.048971 0 0 USP33 23032 broad.mit.edu 37 1 78194222 78194222 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:78194222C>A ENST00000370793.1 - 11 1332 c.986G>T c.(985-987)aGa>aTa p.R329I USP33_ENST00000370794.3_Missense_Mutation_p.R298I|USP33_ENST00000357428.1_Missense_Mutation_p.R329I|USP33_ENST00000370792.3_Missense_Mutation_p.R329I NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 329 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.R329I(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 ATTTTCTGCTCTATCACTGTT 0.368000 36 70 6.19805e-25 7.64776e-25 0.080422 1 0 LAMA2 3908 broad.mit.edu 37 6 129762061 129762061 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:129762061C>T ENST00000421865.2 + 43 6235 c.6186C>T c.(6184-6186)ctC>ctT p.L2062L NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2062 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.L2062L(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ACCAGAACCTCGATGGCCTGA 0.443000 4 74 0 0 0.014758 0 0 KCNS2 3788 broad.mit.edu 37 8 99440859 99440859 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:99440859C>A ENST00000287042.4 + 2 1002 c.652C>A c.(652-654)Cag>Aag p.Q218K KCNS2_ENST00000521839.1_Missense_Mutation_p.Q218K NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 218 voltage-gated potassium channel complex voltage-gated potassium channel activity p.Q218K(1) autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CCCTGACAGCCAGGGCAACCC 0.572000 52 99 1.10885e-35 1.38701e-35 0.048971 1 0 DUOX2 50506 broad.mit.edu 37 15 45387213 45387213 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:45387213T>A ENST00000389039.6 - 32 4701 c.4316A>T c.(4315-4317)aAc>aTc p.N1439I DUOX2_ENST00000603300.1_Missense_Mutation_p.N1439I Q9NRD8 DUOX2_HUMAN dual oxidase 2 1439 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity p.N1439I(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CTGGTGGTCGTTCTCCTCCAC 0.572000 22 35 0 0 0.069288 0 0 LIN7C 55327 broad.mit.edu 37 11 27528274 27528274 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:27528274C>G ENST00000278193.2 - 1 46 c.26G>C c.(25-27)cGg>cCg p.R9P LIN7C_ENST00000524596.1_Missense_Mutation_p.R9P NM_018362.3 NP_060832.1 Q9NUP9 LIN7C_HUMAN lin-7 homolog C (C. elegans) 9 exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction p.R9P(1) endometrium(2)|lung(2)|upper_aerodigestive_tract(1) 5 TCTCTCCAGCCGCACGGGTTC 0.667000 14 72 0 0 0.028581 0 0 TUBA3D 113457 broad.mit.edu 37 2 132237774 132237774 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:132237774G>T ENST00000321253.6 + 4 615 c.508G>T c.(508-510)Gcc>Tcc p.A170S TUBA3D_ENST00000409047.2_3'UTR NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 170 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.A170S(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) GCTAGAGTTTGCCATTTACCC 0.577000 13 336 2.89027e-11 3.28768e-11 0.069288 1 0 SPTA1 6708 broad.mit.edu 37 1 158596650 158596650 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:158596650C>T ENST00000368148.3 - 41 5992 c.5812G>A c.(5812-5814)Gat>Aat p.D1938N SPTA1_ENST00000368147.3_Missense_Mutation_p.D1935N|SPTA1_ENST00000461624.1_5'UTR NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1938 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.D1938N(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTACCACATCAGCCTTCCAG 0.468000 4 144 0 0 0.009096 0 0 ATP2A1 487 broad.mit.edu 37 16 28914369 28914369 + Silent SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr16:28914369C>A ENST00000395503.4 + 20 2947 c.2763C>A c.(2761-2763)tcC>tcA p.S921S ATP2A1_ENST00000536376.1_Silent_p.S796S|ATP2A1_ENST00000357084.3_Silent_p.S921S NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 921 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity p.S921S(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 AGAACCAGTCCCTGCTGCGGA 0.637000 6 105 0.0581538 0.0591284 0.058154 1 0 DYDC2 84332 broad.mit.edu 37 10 82126613 82126613 + Missense_Mutation SNP A A T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:82126613A>T ENST00000372199.1 + 6 1038 c.440A>T c.(439-441)cAg>cTg p.Q147L DYDC2_ENST00000256039.2_Missense_Mutation_p.Q147L|DYDC2_ENST00000372197.1_Missense_Mutation_p.Q147L|DYDC2_ENST00000372198.1_Missense_Mutation_p.Q161L|DYDC2_ENST00000444807.2_Missense_Mutation_p.Q147L Q96IM9 DYDC2_HUMAN DPY30 domain containing 2 147 protein binding p.Q147L(1) breast(1)|large_intestine(3)|lung(6)|skin(1) 11 Colorectal(32;0.229) CAGATTGACCAGAACTTCAAA 0.458000 60 155 0 0 0.048971 0 0 WBP1L 54838 broad.mit.edu 37 10 104573073 104573073 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:104573073C>G ENST00000369889.4 + 4 1156 c.1014C>G c.(1012-1014)agC>agG p.S338R WBP1L_ENST00000448841.1_Missense_Mutation_p.S359R NM_017787.4 NP_060257.4 Q9NX94 OPA1L_HUMAN WW domain binding protein 1-like 338 Poly-Ser. integral to membrane p.S338R(1) CCCAGAGCAGCAGCTCCCCCA 0.612000 11 26 0 0 0.093190 0 0 DNAH2 146754 broad.mit.edu 37 17 7640477 7640477 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:7640477C>T ENST00000572933.1 + 8 2531 c.1071C>T c.(1069-1071)atC>atT p.I357I DNAH2_ENST00000570791.1_Silent_p.I357I|DNAH2_ENST00000389173.2_Silent_p.I357I|DNAH2_ENST00000082259.3_Silent_p.I357I Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 357 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.I357I(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCAAGGACATCTCTAGCAAGC 0.517000 16 92 0 0 0.024245 0 0 SERPINA4 5267 broad.mit.edu 37 14 95034512 95034512 + Missense_Mutation SNP T T G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:95034512T>G ENST00000557004.1 + 4 1391 c.970T>G c.(970-972)Tct>Gct p.S324A SERPINA4_ENST00000298841.5_Missense_Mutation_p.S324A|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.S324A P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 324 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity p.S324A(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) GTTCTCCATTTCTGGCTCCTA 0.443000 44 262 0 0 0.048971 0 0 SORBS1 10580 broad.mit.edu 37 10 97174268 97174268 + Nonsense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:97174268C>A ENST00000371247.2 - 9 982 c.793G>T c.(793-795)Gga>Tga p.G265* SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371245.3_Nonsense_Mutation_p.G196*|SORBS1_ENST00000371227.4_Nonsense_Mutation_p.G265*|SORBS1_ENST00000353505.5_Nonsense_Mutation_p.G196*|SORBS1_ENST00000277982.5_Nonsense_Mutation_p.G265*|SORBS1_ENST00000393949.1_Nonsense_Mutation_p.G256*|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000354106.3_Nonsense_Mutation_p.G256*|SORBS1_ENST00000361941.3_Nonsense_Mutation_p.G265*|SORBS1_ENST00000371246.2_Nonsense_Mutation_p.G265*|SORBS1_ENST00000371249.2_Nonsense_Mutation_p.G233*|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000607232.1_Intron Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 265 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity p.G196*(1)|p.G265*(1) NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) GAAACAGCTCCCGTGAGGTCA 0.602000 38 89 9.8876e-21 1.20371e-20 0.074837 1 0 POMK 84197 broad.mit.edu 37 8 42977285 42977285 + Silent SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:42977285A>G ENST00000331373.5 + 5 573 c.318A>G c.(316-318)gcA>gcG p.A106A NM_001277971.1|NM_032237.3 NP_001264900.1|NP_115613.1 Q9H5K3 SG196_HUMAN 106 Protein kinase. integral to membrane ATP binding|protein kinase activity p.A106A(2) ACAAAGTTGCACTCTCACAGC 0.483000 345 148 0 0 0.048971 0 0 ANKRD13B 124930 broad.mit.edu 37 17 27936421 27936421 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:27936421G>A ENST00000394859.3 + 7 958 c.804G>A c.(802-804)gtG>gtA p.V268V RP11-68I3.2_ENST00000581474.1_RNA NM_152345.4 NP_689558.4 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 268 p.V268V(1) cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 16 CGGAGATGGTGAATGGGTATG 0.607000 4 58 0 0 0.014758 0 0 HSPA12B 116835 broad.mit.edu 37 20 3726567 3726567 + Silent SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:3726567G>T ENST00000254963.2 + 7 709 c.564G>T c.(562-564)ctG>ctT p.L188L HSPA12B_ENST00000542646.1_Silent_p.L22L NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 188 ATP binding p.L188L(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 ACCAGGAGCTGAGGGAGCAGA 0.597000 9 148 5.16669e-11 5.8588e-11 0.080935 1 0 RAI14 26064 broad.mit.edu 37 5 34824141 34824141 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:34824141G>C ENST00000265109.3 + 15 2481 c.2194G>C c.(2194-2196)Gaa>Caa p.E732Q RAI14_ENST00000506376.1_Missense_Mutation_p.E724Q|RAI14_ENST00000397449.1_Missense_Mutation_p.E725Q|RAI14_ENST00000428746.2_Missense_Mutation_p.E732Q|RAI14_ENST00000503673.1_Missense_Mutation_p.E732Q|RAI14_ENST00000515799.1_Missense_Mutation_p.E735Q|RAI14_ENST00000512629.1_Missense_Mutation_p.E703Q NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 732 cell cortex|cytoskeleton protein binding p.E732Q(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) CTCTATCACAGAACATTTGCA 0.413000 5 81 0 0 0.021553 0 0 TMTC4 84899 broad.mit.edu 37 13 101257341 101257341 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr13:101257341G>C ENST00000342624.5 - 19 2448 c.2190C>G c.(2188-2190)atC>atG p.I730M TMTC4_ENST00000376234.3_Missense_Mutation_p.I711M|TMTC4_ENST00000328767.5_Missense_Mutation_p.I600M NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 711 integral to membrane binding p.I730I(2)|p.I730M(1) breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCTGCAAGGAGATTTCATAGT 0.433000 28 133 0 0 0.030593 0 0 CC2D1A 54862 broad.mit.edu 37 19 14024056 14024056 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:14024056G>A ENST00000318003.7 + 5 695 c.454G>A c.(454-456)Gaa>Aaa p.E152K CC2D1A_ENST00000589606.1_Missense_Mutation_p.E152K NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 152 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity p.E152K(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GACAGCAATTGAAAGCGCCAG 0.637000 3 26 0 0 0.014758 0 0 UNC5D 137970 broad.mit.edu 37 8 35584047 35584047 + Splice_Site SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:35584047G>A ENST00000287272.2 + 9 1494 c.1474_splice c.e9+1 p.G492_splice UNC5D_ENST00000416672.1_Splice_Site_p.G566_splice|UNC5D_ENST00000404895.2_Splice_Site_p.G561_splice|UNC5D_ENST00000420357.1_Splice_Site_p.G494_splice|UNC5D_ENST00000453357.2_Splice_Site_p.G556_splice|UNC5D_ENST00000449677.1_Splice_Site_p.G137_splice Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 561 apoptosis|axon guidance integral to membrane receptor activity p.G556R(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GCCAAATACAGGTGGGTGGTA 0.418000 7 297 0 0 0.038147 0 0 CABP1 9478 broad.mit.edu 37 12 121098634 121098634 + Silent SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:121098634T>A ENST00000453000.1 + 4 1250 c.738T>A c.(736-738)gcT>gcA p.A246A CABP1_ENST00000288616.3_Silent_p.A167A|CABP1_ENST00000316803.3_Silent_p.A310A|CABP1_ENST00000351200.2_Silent_p.A107A Q9NZU7 CABP1_HUMAN calcium binding protein 1 310 EF-hand 1. cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding p.A310A(1)|p.A167A(1) central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGCGAGATGCTTTCCGAGAGG 0.498000 68 197 0 0 0.048971 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44268875 44268875 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr18:44268875G>C ENST00000315087.7 - 4 979 c.319C>G c.(319-321)Ctg>Gtg p.L107V ST8SIA5_ENST00000538168.1_Missense_Mutation_p.L143V|ST8SIA5_ENST00000590497.1_Intron|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.L76V NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 107 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane p.L107V(1) kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 CACCTGGACAGAGTAGACCTG 0.572000 19 40 0 0 0.062417 0 0 PXMP4 11264 broad.mit.edu 37 20 32302524 32302524 + Silent SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:32302524C>A ENST00000409299.3 - 2 224 c.132G>T c.(130-132)cgG>cgT p.R44R PXMP4_ENST00000217398.3_Silent_p.R44R|PXMP4_ENST00000344022.3_Silent_p.R44R NM_007238.4 NP_009169.3 Q9Y6I8 PXMP4_HUMAN peroxisomal membrane protein 4, 24kDa 44 integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane protein transporter activity p.R44L(1) NS(1)|endometrium(2)|large_intestine(2)|lung(8) 13 CGTGAGGGGCCCGGATTTTGG 0.502000 77 150 3.76144e-29 4.67292e-29 0.048971 1 0 VWA5A 4013 broad.mit.edu 37 11 124007327 124007327 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:124007327G>C ENST00000456829.2 + 14 1822 c.1571G>C c.(1570-1572)gGc>gCc p.G524A VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.G524A NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 524 p.G524A(1) autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 ACACTCCAGGGCAAGACTTTT 0.433000 86 92 0 0 0.048971 0 0 ACE 1636 broad.mit.edu 37 17 61559074 61559074 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:61559074G>C ENST00000290866.4 + 7 1117 c.1093G>C c.(1093-1095)Gac>Cac p.D365H ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.D365H|ACE_ENST00000538928.1_Missense_Mutation_p.D365H NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 365 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding p.D365H(1) autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CTCGGCTTGGGACTTCTACAA 0.647000 6 156 0 0 0.047766 0 0 KIAA1644 85352 broad.mit.edu 37 22 44692714 44692714 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:44692714C>T ENST00000381176.4 - 3 251 c.119G>A c.(118-120)cGc>cAc p.R40H NM_001099294.1 NP_001092764.1 Q3SXP7 K1644_HUMAN KIAA1644 40 integral to membrane p.R40H(1) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) AAAGTGGTAGCGGCCTTTGTG 0.547000 11 332 0 0 0.093190 0 0 CTNNA2 1496 broad.mit.edu 37 2 80101241 80101241 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:80101241G>A ENST00000466387.1 + 10 1349 c.625G>A c.(625-627)Gcc>Acc p.A209T CTNNA2_ENST00000540488.1_Missense_Mutation_p.A209T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A209T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A209T|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A209T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A243T P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 209 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.A209T(4) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GATGGCAGCCGCCCGAGGGGC 0.512000 14 48 0 0 0.020292 0 0 CLK1 1195 broad.mit.edu 37 2 201718134 201718134 + Silent SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:201718134G>C ENST00000434813.2 - 13 1810 c.1476C>G c.(1474-1476)ctC>ctG p.L492L CLK1_ENST00000321356.4_Silent_p.L450L|CLK1_ENST00000409769.2_Silent_p.L273L NM_001162407.1 NP_001155879.1 P49759 CLK1_HUMAN CDC-like kinase 1 450 cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity p.L492L(1)|p.L450L(1) NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 TGAGGTCAAAGAGACGCTCAT 0.363000 8 93 0 0 0.038147 0 0 S100A13 6284 broad.mit.edu 37 1 153598847 153598847 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:153598847G>A ENST00000368699.1 - 4 605 c.102C>T c.(100-102)agC>agT p.S34S S100A13_ENST00000392623.1_Silent_p.S34S|S100A13_ENST00000392622.1_Silent_p.S34S|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000440685.2_Silent_p.S34S|S100A13_ENST00000339556.4_Silent_p.S34S|RP1-178F15.5_ENST00000497086.1_RNA NM_001024210.1 NP_001019381.1 Q99584 S10AD_HUMAN S100 calcium binding protein A13 34 EF-hand 1. interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding p.S34S(1) breast(1)|endometrium(1)|large_intestine(1)|lung(4) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) ACTCGTTGACGCTGAGGCTAT 0.532000 51 522 0 0 0.048971 0 0 PXMP4 11264 broad.mit.edu 37 20 32302525 32302525 + Missense_Mutation SNP C C A rs142263400 TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:32302525C>A ENST00000409299.3 - 2 223 c.131G>T c.(130-132)cGg>cTg p.R44L PXMP4_ENST00000217398.3_Missense_Mutation_p.R44L|PXMP4_ENST00000344022.3_Missense_Mutation_p.R44L NM_007238.4 NP_009169.3 Q9Y6I8 PXMP4_HUMAN peroxisomal membrane protein 4, 24kDa 44 integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane protein transporter activity p.R44L(1) NS(1)|endometrium(2)|large_intestine(2)|lung(8) 13 GTGAGGGGCCCGGATTTTGGC 0.502000 76 150 1.42536e-29 1.77681e-29 0.048971 1 0 PGK2 5232 broad.mit.edu 37 6 49753774 49753774 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:49753774G>T ENST00000304801.3 - 1 1279 c.1127C>A c.(1126-1128)aCt>aAt p.T376N NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 376 glycolysis cytosol ATP binding|phosphoglycerate kinase activity p.T376N(1) autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GCAAGTAGCAGTGTCTCCACC 0.488000 81 218 1.19347e-43 1.51896e-43 0.048971 1 0 INTS9 55756 broad.mit.edu 37 8 28654152 28654152 + Silent SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:28654152G>C ENST00000416984.2 - 8 1061 c.702C>G c.(700-702)ctC>ctG p.L234L INTS9_ENST00000397363.4_Silent_p.L149L|INTS9_ENST00000521022.1_Silent_p.L255L|INTS9_ENST00000521777.1_Silent_p.L231L NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 255 snRNA processing integrator complex protein binding p.L255L(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) CGCTGTTTTTGAGAGAAGCTT 0.433000 25 34 0 0 0.083992 0 0 GPI 2821 broad.mit.edu 37 19 34868423 34868423 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:34868423G>T ENST00000356487.5 + 5 659 c.418G>T c.(418-420)Gac>Tac p.D140Y GPI_ENST00000586425.1_Missense_Mutation_p.D140Y|GPI_ENST00000415930.3_Intron NM_000175.3 NP_000166.2 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 140 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity p.D140Y(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) CCGGAGCGGTGACTGGAAGGG 0.582000 33 110 1.15183e-24 1.41644e-24 0.111260 1 0 ACBD5 91452 broad.mit.edu 37 10 27512279 27512279 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:27512279C>T ENST00000396271.3 - 5 604 c.478G>A c.(478-480)Gat>Aat p.D160N ACBD5_ENST00000375897.3_Missense_Mutation_p.D51N|ACBD5_ENST00000375901.1_Missense_Mutation_p.D51N|ACBD5_ENST00000375905.4_Missense_Mutation_p.D125N|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Missense_Mutation_p.D158N NM_145698.3 NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 158 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding p.D125N(1)|p.D160N(1) breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 GAGGTTATATCAGAACTCCTG 0.313000 4 90 0 0 0.009096 0 0 FAT1 2195 broad.mit.edu 37 4 187627769 187627769 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:187627769G>A ENST00000441802.2 - 2 3422 c.3213C>T c.(3211-3213)taC>taT p.Y1071Y NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1071 Cadherin 9. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.Y1071Y(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CTCTAATGGAGTATCGGATCT 0.433000 HNSCC(5;0.00058) 45 140 0 0 0.048971 0 0 LRRC47 57470 broad.mit.edu 37 1 3699302 3699302 + Nonsense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:3699302C>A ENST00000378251.1 - 5 1363 c.1336G>T c.(1336-1338)Gaa>Taa p.E446* NM_020710.2 NP_065761.1 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 446 translation phenylalanine-tRNA ligase activity|RNA binding p.E446*(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) GGGTAATTTTCATTTCCATCC 0.443000 6 85 0.00448238 0.004609 0.047766 1 0 DRC1 92749 broad.mit.edu 37 2 26624954 26624954 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:26624954C>G ENST00000288710.2 + 1 171 c.97C>G c.(97-99)Cag>Gag p.Q33E NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) p.Q33E(1) CGACAACTCTCAGGAGCGCAT 0.716000 3 27 0 0 0.009096 0 0 MYH8 4626 broad.mit.edu 37 17 10298621 10298621 + Silent SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:10298621C>A ENST00000403437.2 - 34 4885 c.4791G>T c.(4789-4791)gtG>gtT p.V1597V CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1597 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle p.V1597V(1) NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GCATTGTCTCCACGACTCTAG 0.423000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 19 107 3.5997e-14 4.21315e-14 0.069288 1 0 CDK15 65061 broad.mit.edu 37 2 202737000 202737000 + Splice_Site SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:202737000G>A ENST00000450471.2 + 11 1095 c.e11-1 CDK15_ENST00000434439.1_Splice_Site|CDK15_ENST00000260967.2_Splice_Site|CDK15_ENST00000410091.3_Splice_Site|CDK15_ENST00000374598.4_Splice_Site NM_001261435.1 NP_001248364.1 Q96Q40 CDK15_HUMAN cyclin-dependent kinase 15 ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding p.?(1) breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) ATGCTTCCCAGAATGGTTCCC 0.433000 4 130 0 0 0.009096 0 0 ERCC3 2071 broad.mit.edu 37 2 128018852 128018852 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:128018852G>A ENST00000493187.2 - 13 2287 c.1824C>T c.(1822-1824)taC>taT p.Y608Y ERCC3_ENST00000285398.2_Silent_p.Y672Y P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 672 Helicase C-terminal. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding p.Y672Y(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) GCTTGGTTGAGTAAGCCATTT 0.438000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 4 100 0 0 0.009096 0 0 PBX2 5089 broad.mit.edu 37 6 32156270 32156270 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:32156270G>A ENST00000375050.4 - 3 577 c.307C>T c.(307-309)Cgg>Tgg p.R103W NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 103 transcription factor binding p.R103S(1) endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 TGGGAGCTCCGAATGCTGAGG 0.632000 13 36 0 0 0.105934 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473002 22473002 + RNA SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:22473002G>A ENST00000557788.2 - 0 268 CTTGTCTACTGATATGGTGAC 0.577000 19 305 0 0 0.055883 0 0 PRKCB 5579 broad.mit.edu 37 16 23847552 23847552 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr16:23847552G>T ENST00000303531.7 + 1 208 c.56G>T c.(55-57)cGc>cTc p.R19L PRKCB_ENST00000321728.7_Missense_Mutation_p.R19L|PRKCB_ENST00000498058.1_Missense_Mutation_p.R19L NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 19 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding p.R19L(2) central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AGCACCGTGCGCTTCGCCCGC 0.706000 15 33 3.41278e-10 3.79894e-10 0.033300 1 0 TUBA3E 112714 broad.mit.edu 37 2 130951907 130951907 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:130951907C>A ENST00000312988.7 - 4 608 c.508G>T c.(508-510)Gcc>Tcc p.A170S NM_207312.2 NP_997195.1 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 170 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity p.A170S(1) endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) GGGTAAATGGCAAACTCTAGC 0.567000 24 125 7.26314e-15 8.55593e-15 0.034045 1 0 LRFN5 145581 broad.mit.edu 37 14 42355929 42355929 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:42355929C>A ENST00000554171.1 + 5 2533 c.101C>A c.(100-102)gCa>gAa p.A34E LRFN5_ENST00000554120.1_Missense_Mutation_p.A34E|LRFN5_ENST00000298119.4_Missense_Mutation_p.A34E Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 34 LRRNT. integral to membrane p.A34E(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CCTAATCTTGCAACCCTTTGT 0.378000 HNSCC(30;0.082) 12 44 0.000151284 0.00015824 0.105934 1 0 KCND2 3751 broad.mit.edu 37 7 119915637 119915637 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:119915637G>A ENST00000331113.4 + 1 1916 c.951G>A c.(949-951)ctG>ctA p.L317L NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 317 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding p.L317L(1) NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GGTACACACTGAAGAGTTGTG 0.522000 11 104 0 0 0.105934 0 0 DDX23 9416 broad.mit.edu 37 12 49231355 49231355 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:49231355C>T ENST00000308025.3 - 7 784 c.705G>A c.(703-705)caG>caA p.Q235Q DDX23_ENST00000553182.1_Intron NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 235 Glu-rich. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding p.Q235Q(1) NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 CCCGGATCTTCTGCCGCCCTT 0.517000 10 117 0 0 0.058154 0 0 AKAP9 10142 broad.mit.edu 37 7 91737903 91737903 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:91737903C>T ENST00000359028.2 + 49 11879 c.11654C>T c.(11653-11655)aCt>aTt p.T3885I AKAP9_ENST00000358100.2_Missense_Mutation_p.T3831I|AKAP9_ENST00000356239.3_Missense_Mutation_p.T3881I Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3885 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding p.T3885I(1)|p.T3881I(1) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GATTATATCACTCGGCTAGAG 0.488000 T BRAF papillary thyroid 11 97 0 0 0.080935 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37188577 37188577 + RNA SNP T T G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:37188577T>G ENST00000425901.2 + 0 2419 NR_033753.2 ACATATGTGATCTCTGTACCT 0.517000 4 161 0 0 0.038147 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 5 31 0 0 0.021553 0 0 KIF6 221458 broad.mit.edu 37 6 39512386 39512386 + Silent SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:39512386T>C ENST00000287152.7 - 12 1465 c.1371A>G c.(1369-1371)aaA>aaG p.K457K KIF6_ENST00000373215.3_Silent_p.K457K|KIF6_ENST00000373216.3_Silent_p.K457K|KIF6_ENST00000373213.4_Silent_p.K296K|KIF6_ENST00000538893.1_Silent_p.K457K NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 457 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding p.K457K(2) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 ATTCTTCTTCTTTTAATGGTT 0.338000 6 63 0 0 0.021553 0 0 NUCKS1 64710 broad.mit.edu 37 1 205689671 205689671 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:205689671C>T ENST00000367142.4 - 5 642 c.340G>A c.(340-342)Gag>Aag p.E114K NM_022731.4 NP_073568.2 Q9H1E3 NUCKS_HUMAN nuclear casein kinase and cyclin-dependent kinase substrate 1 114 nucleus p.E114K(1) endometrium(4)|large_intestine(1)|lung(9) 14 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TGTTCTTCCTCACTGCCCACA 0.433000 13 150 0 0 0.105934 0 0 OR2C3 81472 broad.mit.edu 37 1 247695011 247695011 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:247695011G>C ENST00000366487.3 - 2 1164 c.803C>G c.(802-804)tCc>tGc p.S268C GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S267C(1) breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CTGCTCATGGGAGGTGCTCTT 0.532000 7 107 0 0 0.058154 0 0 FAM83E 54854 broad.mit.edu 37 19 49116501 49116501 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:49116501C>T ENST00000263266.3 - 1 318 c.129G>A c.(127-129)gcG>gcA p.A43A NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 43 p.A43A(1) NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GGAACGCCTCCGCGCCCTTGC 0.667000 5 35 0 0 0.038147 0 0 NTF4 4909 broad.mit.edu 37 19 49564715 49564715 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:49564715C>G ENST00000301411.3 - 2 680 c.540G>C c.(538-540)ttG>ttC p.L180F NTF4_ENST00000451356.2_Intron|NTF4_ENST00000593537.1_Missense_Mutation_p.L180F NM_006179.4 NP_006170.1 P34130 NTF4_HUMAN neurotrophin 4 180 adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification endoplasmic reticulum lumen|extracellular region growth factor activity p.L180F(1) kidney(1)|lung(4)|upper_aerodigestive_tract(1) 6 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) CATCAGCGGTCAATGCCCGCA 0.657000 5 91 0 0 0.014758 0 0 LARP4 113251 broad.mit.edu 37 12 50829374 50829374 + Missense_Mutation SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:50829374A>G ENST00000398473.2 + 5 614 c.502A>G c.(502-504)Aca>Gca p.T168A LARP4_ENST00000347328.5_Missense_Mutation_p.T168A|LARP4_ENST00000429001.3_Missense_Mutation_p.T174A|LARP4_ENST00000522085.1_Missense_Mutation_p.T168A|LARP4_ENST00000518444.1_Missense_Mutation_p.T167A|LARP4_ENST00000293618.8_Missense_Mutation_p.T168A|LARP4_ENST00000518561.1_Missense_Mutation_p.T98A NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 168 HTH La-type RNA-binding. nucleotide binding|RNA binding p.T168A(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 AAAGTTGACTACAGACCCTGA 0.294000 35 70 0 0 0.069456 0 0 KLHDC10 23008 broad.mit.edu 37 7 129736765 129736765 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:129736765G>C ENST00000335420.5 + 2 305 c.171G>C c.(169-171)aaG>aaC p.K57N NM_014997.3 NP_055812.1 Q6PID8 KLD10_HUMAN kelch domain containing 10 57 p.K57N(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1) 17 TAACAGGTAAGAAGAAAATAC 0.383000 4 42 0 0 0.014758 0 0 OR4A15 81328 broad.mit.edu 37 11 55136023 55136023 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:55136023G>T ENST00000314706.3 + 1 664 c.664G>T c.(664-666)Gtc>Ttc p.V222F NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V222F(1) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 CAATACCTATGTCACTGGGCT 0.418000 15 96 8.60227e-14 1.0036e-13 0.028581 1 0 NUP43 348995 broad.mit.edu 37 6 150064778 150064778 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:150064778T>A ENST00000340413.2 - 3 393 c.317A>T c.(316-318)aAc>aTc p.N106I NUP43_ENST00000463048.3_5'UTR|NUP43_ENST00000460354.2_Missense_Mutation_p.N106I|NUP43_ENST00000367404.4_Missense_Mutation_p.N106I|NUP43_ENST00000367403.3_Missense_Mutation_p.N167I NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 106 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding p.N106I(1) breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) CTTTACCTGGTTATTTGGATG 0.393000 16 23 0 0 0.049695 0 0 WDFY3 23001 broad.mit.edu 37 4 85716111 85716111 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:85716111C>G ENST00000322366.6 - 20 3596 c.3189G>C c.(3187-3189)ttG>ttC p.L1063F WDFY3_ENST00000295888.4_Missense_Mutation_p.L1063F Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1063 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding p.L1063_A1064>FS(1) breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TATGAGGGGCCAAACTGGGCA 0.388000 8 18 0 0 0.093190 0 0 WAC 51322 broad.mit.edu 37 10 28905133 28905133 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:28905133C>T ENST00000375664.3 + 12 2062 c.1453C>T c.(1453-1455)Cat>Tat p.H485Y WAC_ENST00000347934.4_Missense_Mutation_p.H427Y|WAC_ENST00000354911.4_Missense_Mutation_p.H530Y|WAC_ENST00000375646.1_Missense_Mutation_p.H378Y Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil 530 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding p.H530Y(1) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 TGGTCCCAATCATACTTCTAA 0.408000 17 170 0 0 0.043863 0 0 SPTLC3 55304 broad.mit.edu 37 20 13053003 13053003 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:13053003G>T ENST00000399002.2 + 3 677 c.403G>T c.(403-405)Ggg>Tgg p.G135W SPTLC3_ENST00000378194.4_Missense_Mutation_p.G135W NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 135 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups p.G135W(1)|p.G108W(1) breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) CAGTGCCCCAGGGCCTCTGTT 0.438000 71 394 5.71386e-39 7.1967e-39 0.048971 1 0 MDN1 23195 broad.mit.edu 37 6 90438775 90438775 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:90438775C>A ENST00000369393.3 - 36 5339 c.5224G>T c.(5224-5226)Gct>Tct p.A1742S MDN1_ENST00000428876.1_Missense_Mutation_p.A1742S Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1742 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.A1742S(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AGTTTGGTAGCTCTTAAGAGC 0.478000 7 65 0.00198382 0.00204564 0.029380 1 0 RYR1 6261 broad.mit.edu 37 19 39023335 39023335 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:39023335G>A ENST00000355481.4 + 77 11334 c.11203G>A c.(11203-11205)Gag>Aag p.E3735K RYR1_ENST00000359596.3_Missense_Mutation_p.E3740K|RYR1_ENST00000360985.3_Missense_Mutation_p.E3740K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3740 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.E3740K(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGAGGGAGGGGAGAACGGTGA 0.602000 42 82 0 0 0.048971 0 0 DSCAML1 57453 broad.mit.edu 37 11 117647510 117647510 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:117647510G>A ENST00000321322.6 - 3 688 c.687C>T c.(685-687)atC>atT p.I229I DSCAML1_ENST00000527706.1_Intron NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 169 Ig-like C2-type 3. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity p.I229I(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TCTTACCTGGGATGATGGAGA 0.537000 7 83 0 0 0.047766 0 0 TPTE 7179 broad.mit.edu 37 21 10951323 10951323 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr21:10951323G>A ENST00000298232.7 - 9 702 c.335C>T c.(334-336)tCt>tTt p.S112F TPTE_ENST00000342420.5_Missense_Mutation_p.S92F|TPTE_ENST00000361285.4_Missense_Mutation_p.S130F|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 130 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.S130F(1)|p.S112F(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AATAGCTAGAGAAATAGAACG 0.343000 23 91 0 0 0.091800 0 0 DNAH9 1770 broad.mit.edu 37 17 11597208 11597208 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:11597208C>T ENST00000262442.3 + 21 4706 c.4638C>T c.(4636-4638)atC>atT p.I1546I DNAH9_ENST00000454412.2_Silent_p.I1546I NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1546 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.I1546I(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTGAAGGCATCGACATTGACT 0.428000 23 94 0 0 0.099896 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013194 149013194 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:149013194C>A ENST00000535454.1 + 4 697 c.148C>A c.(148-150)Ctt>Att p.L50I MAGEA8_ENST00000542674.1_Missense_Mutation_p.L50I|MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000286482.1_Missense_Mutation_p.L50I NM_001166400.1 NP_001159872.1 P43361 MAGA8_HUMAN melanoma antigen family A, 8 50 p.L50I(1) NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) CATGGGAACCCTTGAGGAGGT 0.577000 16 11 5.35267e-07 5.76441e-07 0.043863 1 0 ODF2 4957 broad.mit.edu 37 9 131262373 131262373 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:131262373C>A ENST00000303890.5 + 23 2842 c.2257C>A c.(2257-2259)Caa>Aaa p.Q753K ODF2_ENST00000372796.4_Missense_Mutation_p.Q777K|ODF2_ENST00000434106.2_Missense_Mutation_p.Q777K|ODF2_ENST00000351030.3_Missense_Mutation_p.Q772K|ODF2_ENST00000372807.5_Missense_Mutation_p.Q772K|ODF2_ENST00000444119.2_Missense_Mutation_p.Q753K NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 777 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity p.Q777K(1)|p.Q753K(1) autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 GAGCCGGCTGCAAGACCTGAA 0.547000 29 73 0.000147802 0.000155043 0.030593 1 0 TRAPPC8 22878 broad.mit.edu 37 18 29437671 29437671 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr18:29437671C>G ENST00000283351.4 - 20 3355 c.3020G>C c.(3019-3021)gGc>gCc p.G1007A TRAPPC8_ENST00000582539.1_Missense_Mutation_p.G953A NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 1007 ER to Golgi vesicle-mediated transport cis-Golgi network p.G1007A(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ACTTCCTGTGCCAATGCCAAA 0.493000 29 73 0 0 0.054565 0 0 LARGE 9215 broad.mit.edu 37 22 33700318 33700318 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:33700318C>T ENST00000354992.2 - 13 2198 c.1627G>A c.(1627-1629)Gtg>Atg p.V543M LARGE_ENST00000337431.2_Missense_Mutation_p.V491M|LARGE_ENST00000397394.2_Missense_Mutation_p.V543M|LARGE_ENST00000402320.1_Missense_Mutation_p.V491M|LARGE_ENST00000452586.2_Missense_Mutation_p.V342M|LARGE_ENST00000437602.2_Missense_Mutation_p.V543M NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 543 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity p.V543M(2)|p.V543L(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) AGCAGGTTCACGGGGTAGAAC 0.572000 34 116 0 0 0.080422 0 0 TTC17 55761 broad.mit.edu 37 11 43411289 43411289 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:43411289G>A ENST00000039989.4 + 3 351 c.337G>A c.(337-339)Gac>Aac p.D113N TTC17_ENST00000299240.6_Missense_Mutation_p.D113N NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 113 binding p.D113N(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 AGAAGACCCAGACTGCATCAA 0.408000 13 145 0 0 0.020292 0 0 LRRC7 57554 broad.mit.edu 37 1 70541760 70541760 + Splice_Site SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:70541760G>T ENST00000310961.5 + 24 4409 c.3990_splice c.e24-1 p.A1331_splice LRRC7_ENST00000035383.5_Splice_Site_p.A1373_splice|LRRC7_ENST00000415775.2_Splice_Site_p.A657_splice Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1373 centrosome|focal adhesion|nucleolus protein binding p.A1373S(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TTCTCCACAGGCAGGCAGCCA 0.493000 19 28 1.96292e-10 2.19173e-10 0.055883 1 0 ZNF195 7748 broad.mit.edu 37 11 3381328 3381328 + Nonsense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:3381328C>A ENST00000354599.6 - 4 798 c.694G>T c.(694-696)Gaa>Taa p.E232* ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Nonsense_Mutation_p.E281*|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000429541.2_Nonsense_Mutation_p.E236*|ZNF195_ENST00000399602.4_Nonsense_Mutation_p.E304*|ZNF195_ENST00000343338.7_Nonsense_Mutation_p.E236*|ZNF195_ENST00000526601.1_Nonsense_Mutation_p.E285* NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 304 Spacer. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E232*(1) endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) TTGTTACATTCTTGACACTTG 0.368000 24 132 1.1804e-14 1.38601e-14 0.091800 1 0 LIMK2 3985 broad.mit.edu 37 22 31658126 31658126 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:31658126C>G ENST00000331728.4 + 6 672 c.558C>G c.(556-558)aaC>aaG p.N186K LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Missense_Mutation_p.N165K|LIMK2_ENST00000406516.1_Missense_Mutation_p.N108K|LIMK2_ENST00000340552.4_Missense_Mutation_p.N165K NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 186 PDZ. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding p.N186K(1)|p.N165K(1) endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 CCAGGGTCAACCGGATGCACA 0.567000 27 162 0 0 0.034045 0 0 ZNF324 25799 broad.mit.edu 37 19 58983439 58983439 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:58983439C>T ENST00000536459.2 + 4 2289 c.1580C>T c.(1579-1581)tCa>tTa p.S527L ZNF324_ENST00000196482.3_Missense_Mutation_p.S527L|ZNF324_ENST00000535298.1_Missense_Mutation_p.S304L O75467 Z324A_HUMAN zinc finger protein 324 527 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S527L(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GCCGGGGCATCATCAGAAGGT 0.692000 5 41 0 0 0.014758 0 0 C9orf3 84909 broad.mit.edu 37 9 97555120 97555120 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:97555120G>C ENST00000375315.2 + 3 1038 c.1038G>C c.(1036-1038)tgG>tgC p.W346C C9orf3_ENST00000277198.2_Missense_Mutation_p.W346C|C9orf3_ENST00000297979.5_Missense_Mutation_p.W346C NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 346 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding p.W346C(2) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) TGGGATGCTGGACAGAAATGA 0.453000 26 319 0 0 0.099896 0 0 SLC6A17 388662 broad.mit.edu 37 1 110735252 110735252 + Missense_Mutation SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:110735252A>G ENST00000331565.4 + 8 1716 c.1231A>G c.(1231-1233)Acc>Gcc p.T411A SLC6A17_ENST00000465159.1_3'UTR NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 411 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity p.T411A(1) breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) TGTCATCATGACCGTGAAGGA 0.592000 15 56 0 0 0.024245 0 0 AHNAK2 113146 broad.mit.edu 37 14 105417681 105417681 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:105417681C>T ENST00000333244.5 - 7 4226 c.4107G>A c.(4105-4107)ggG>ggA p.G1369G AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1369 nucleus p.G1369G(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCTTGAGGTCCCCCTGCATGG 0.647000 9 5 0 0 0.033300 0 0 SDHAP3 728609 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 4 63 0 0 0.014758 0 0 NPFFR2 10886 broad.mit.edu 37 4 73012878 73012878 + Nonsense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:73012878C>G ENST00000308744.6 + 4 1016 c.918C>G c.(916-918)taC>taG p.Y306* NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Nonsense_Mutation_p.Y207*|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Nonsense_Mutation_p.Y204* NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 306 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity p.Y306*(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) GTCCAGTCTACTGGTGCCGGG 0.463000 9 80 0 0 0.069234 0 0 AARS2 57505 broad.mit.edu 37 6 44274243 44274243 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:44274243C>A ENST00000244571.4 - 8 1178 c.1176G>T c.(1174-1176)agG>agT p.R392S TMEM151B_ENST00000438774.2_Intron NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 392 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding p.R392S(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) GGGCTGAGTTCCTTTGCAGTT 0.592000 33 830 1.76533e-06 1.89551e-06 0.064281 1 0 DNAH2 146754 broad.mit.edu 37 17 7646444 7646444 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:7646444G>C ENST00000572933.1 + 12 3348 c.1888G>C c.(1888-1890)Gat>Cat p.D630H DNAH2_ENST00000570791.1_Missense_Mutation_p.D712H|DNAH2_ENST00000389173.2_Missense_Mutation_p.D630H|DNAH2_ENST00000082259.3_Missense_Mutation_p.D712H Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 630 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.D630H(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GGGCATGCTGGATGTCAACTT 0.512000 8 55 0 0 0.047766 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812989 31812989 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr21:31812989T>C ENST00000334067.3 + 1 393 c.344T>C c.(343-345)cTg>cCg p.L115P NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 115 intermediate filament p.L115P(1) kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 TTCCAATCTCTGGACTGTGGG 0.493000 28 88 0 0 0.108266 0 0 POLR2G 5436 broad.mit.edu 37 11 62532822 62532822 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:62532822C>T ENST00000301788.7 + 5 449 c.344C>T c.(343-345)tCa>tTa p.S115L NM_002696.2 NP_002687.1 P62487 RPB7_HUMAN polymerase (RNA) II (DNA directed) polypeptide G 115 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|protein binding|RNA binding p.S115L(1) lung(3) 3 TCCATCCCTTCAGAGATGGAG 0.458000 37 198 0 0 0.086207 0 0 IQSEC3 440073 broad.mit.edu 37 12 248332 248332 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:248332C>G ENST00000538872.1 + 4 1921 c.1803C>G c.(1801-1803)agC>agG p.S601R RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S601R|IQSEC3_ENST00000382841.2_Missense_Mutation_p.S298R Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 601 Poly-Ser. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity p.S601R(1)|p.S298R(1) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GCAGCAGCAGCACGTCCACCA 0.687000 3 3 0 0 0.038147 0 0 GPRASP1 9737 broad.mit.edu 37 X 101909099 101909099 + Silent SNP A A C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:101909099A>C ENST00000537097.1 + 6 1071 c.258A>C c.(256-258)tcA>tcC p.S86S RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.S86S|GPRASP1_ENST00000361600.5_Silent_p.S86S|GPRASP1_ENST00000444152.1_Silent_p.S86S NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 86 cytoplasm protein binding p.S86S(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TACCTGTTTCACGATTTAAGG 0.493000 13 200 0 0 0.105934 0 0 DNAH2 146754 broad.mit.edu 37 17 7636522 7636522 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:7636522C>T ENST00000572933.1 + 5 1977 c.517C>T c.(517-519)Cgg>Tgg p.R173W DNAH2_ENST00000570791.1_Missense_Mutation_p.R173W|DNAH2_ENST00000389173.2_Missense_Mutation_p.R173W|DNAH2_ENST00000082259.3_Missense_Mutation_p.R173W Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 173 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R173W(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GGCCCTGCTTCGGCTGCTCGG 0.547000 28 106 0 0 0.050027 0 0 NLRP10 338322 broad.mit.edu 37 11 7982783 7982783 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:7982783G>C ENST00000328600.2 - 2 537 c.376C>G c.(376-378)Ctg>Gtg p.L126V NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 126 ATP binding p.L126V(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TTGGCCACCAGGAGCACCTGG 0.552000 13 96 0 0 0.024245 0 0 TULP4 56995 broad.mit.edu 37 6 158924616 158924616 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:158924616G>A ENST00000367097.3 + 13 5278 c.3921G>A c.(3919-3921)gtG>gtA p.V1307V TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 1307 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity p.V1307V(1) endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GCACAGAGGTGATGGTAGAGA 0.592000 14 99 0 0 0.024245 0 0 PRKAA1 5562 broad.mit.edu 37 5 40764982 40764982 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:40764982G>C ENST00000397128.2 - 7 1188 c.1180C>G c.(1180-1182)Cca>Gca p.P394A PRKAA1_ENST00000354209.3_Missense_Mutation_p.P409A NM_006251.5|NM_206907.3 NP_006242.5|NP_996790.3 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic subunit 394 activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding p.P409A(1) breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) GATTTCTGTGGATTTAATTCA 0.418000 8 51 0 0 0.038147 0 0 CDH10 1008 broad.mit.edu 37 5 24537720 24537720 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:24537720C>A ENST00000264463.4 - 3 802 c.295G>T c.(295-297)Ggt>Tgt p.G99C NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 99 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G99C(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AAAAGAGTACCAGCTCCATCT 0.373000 HNSCC(23;0.051) 9 36 6.40141e-05 6.73443e-05 0.080935 1 0 CARM1 10498 broad.mit.edu 37 19 11022908 11022908 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:11022908G>C ENST00000327064.4 + 5 797 c.607G>C c.(607-609)Gcc>Ccc p.A203P CARM1_ENST00000344150.4_Missense_Mutation_p.A203P NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 203 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A203P(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 GTTTTTTGCCGCCCAAGCTGG 0.627000 169 232 0 0 0.048971 0 0 TTI1 9675 broad.mit.edu 37 20 36641892 36641892 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:36641892G>A ENST00000373448.2 - 3 565 c.327C>T c.(325-327)tcC>tcT p.S109S TTI1_ENST00000373447.3_Silent_p.S109S|TTI1_ENST00000449821.1_Silent_p.S109S|TTI1_ENST00000487362.1_Intron NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 109 binding p.S109S(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 CAGGTTTTTGGGAGCTGGGTG 0.453000 53 108 0 0 0.048971 0 0 FCRL5 83416 broad.mit.edu 37 1 157509129 157509129 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:157509129G>T ENST00000361835.3 - 7 1306 c.1149C>A c.(1147-1149)aaC>aaA p.N383K FCRL5_ENST00000356953.4_Missense_Mutation_p.N383K|FCRL5_ENST00000368190.3_Missense_Mutation_p.N383K|FCRL5_ENST00000368189.3_Missense_Mutation_p.N383K|FCRL5_ENST00000368191.3_Missense_Mutation_p.N298K NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 383 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity p.N383K(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GAGAGCTGAGGTTGAGGACAG 0.448000 13 76 5.50884e-06 5.86321e-06 0.093190 1 0 RNLS 55328 broad.mit.edu 37 10 90332672 90332672 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:90332672C>A ENST00000371947.3 - 4 1853 c.514G>T c.(514-516)Gac>Tac p.D172Y RNLS_ENST00000466945.1_Intron|RNLS_ENST00000437752.1_Missense_Mutation_p.D89Y|RNLS_ENST00000331772.4_Missense_Mutation_p.D172Y NM_018363.3 NP_060833.1 Q5VYX0 RNLS_HUMAN renalase, FAD-dependent amine oxidase 172 extracellular region oxidoreductase activity p.D172Y(1) breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 GTGGTGATGTCACCTTGAAGC 0.438000 10 61 1.61879e-10 1.81864e-10 0.093190 1 0 CDX4 1046 broad.mit.edu 37 X 72667133 72667133 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:72667133C>A ENST00000373514.2 + 1 44 c.44C>A c.(43-45)cCg>cAg p.P15Q NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 15 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P15Q(1) endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) GGCATGTACCCGGGCACTCTC 0.622000 13 30 1.5842e-08 1.72649e-08 0.105934 1 0 DOCK4 9732 broad.mit.edu 37 7 111634226 111634226 + Silent SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:111634226T>C ENST00000428084.1 - 5 551 c.279A>G c.(277-279)ttA>ttG p.L93L DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Silent_p.L93L Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 93 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding p.L93L(1)|p.L81L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) CCCAGTCTCTTAATGTTGATG 0.313000 15 56 0 0 0.028581 0 0 TMCO4 255104 broad.mit.edu 37 1 20073736 20073736 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:20073736C>T ENST00000294543.6 - 8 774 c.533G>A c.(532-534)cGa>cAa p.R178Q TMCO4_ENST00000375127.1_Missense_Mutation_p.R178Q|TMCO4_ENST00000375122.2_Missense_Mutation_p.R178Q NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 178 integral to membrane p.R178Q(1) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) TTTCTTCTTTCGGGATGCCTC 0.562000 30 351 0 0 0.054565 0 0 TESK1 7016 broad.mit.edu 37 9 35607349 35607349 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:35607349G>C ENST00000336395.5 + 5 813 c.563G>C c.(562-564)cGa>cCa p.R188P TESK1_ENST00000498522.1_Intron NM_006285.2 NP_006276.2 Q15569 TESK1_HUMAN testis-specific kinase 1 188 Protein kinase. cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R188P(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 27 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CGGGAAGATCGAGGCTTCACC 0.537000 9 162 0 0 0.047766 0 0 ABCA8 10351 broad.mit.edu 37 17 66883575 66883575 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:66883575C>T ENST00000269080.2 - 23 3234 c.3097G>A c.(3097-3099)Gat>Aat p.D1033N ABCA8_ENST00000586539.1_Missense_Mutation_p.D1073N|ABCA8_ENST00000430352.2_Missense_Mutation_p.D1073N NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1033 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.D1033N(1) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AGGGAAACATCCACCAGCGCC 0.413000 11 231 0 0 0.069234 0 0 IFT122 55764 broad.mit.edu 37 3 129183488 129183488 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr3:129183488G>T ENST00000296266.3 + 8 772 c.580G>T c.(580-582)Gat>Tat p.D194Y IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000348417.2_Missense_Mutation_p.D143Y|IFT122_ENST00000347300.2_Missense_Mutation_p.D143Y|IFT122_ENST00000349441.2_Missense_Mutation_p.D91Y|IFT122_ENST00000507564.1_Missense_Mutation_p.D194Y|IFT122_ENST00000504021.1_Missense_Mutation_p.D96Y NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 143 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium p.D194Y(1) breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 CTGGACAAATGATGGTCAGTA 0.502000 12 214 1.61879e-10 1.81864e-10 0.093190 1 0 SNRNP200 23020 broad.mit.edu 37 2 96949642 96949642 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:96949642T>C ENST00000323853.5 - 32 4570 c.4493A>G c.(4492-4494)aAg>aGg p.K1498R SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1498 Helicase ATP-binding 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.K1498R(1) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 GGCCACATCCTTGGCATTGGA 0.587000 7 12 0 0 0.038147 0 0 RGS8 85397 broad.mit.edu 37 1 182640801 182640801 + Missense_Mutation SNP C C A rs141271906 by1000genomes TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:182640801C>A ENST00000258302.4 - 2 160 c.71G>T c.(70-72)gGc>gTc p.G24V RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_5'UTR|RGS8_ENST00000367556.1_5'UTR|RGS8_ENST00000483095.2_5'UTR NM_033345.2 NP_203131.1 P57771 RGS8_HUMAN regulator of G-protein signaling 8 0 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.G24V(1) haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5 CTGTCTTTGGCCAGTCCTCAT 0.453000 4 154 0.000602214 0.000624519 0.014758 1 0 OR2AG2 338755 broad.mit.edu 37 11 6789999 6789999 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:6789999C>A ENST00000338569.2 - 1 287 c.190G>T c.(190-192)Ggg>Tgg p.G64W NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G64W(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GAGAGCTGCCCAAGCAGGAGG 0.532000 35 138 3.09479e-21 3.78021e-21 0.092188 1 0 MUC5B 727897 broad.mit.edu 37 11 1273700 1273700 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:1273700G>A ENST00000447027.1 + 32 15058 c.15000G>A c.(14998-15000)ccG>ccA p.P5000P MUC5B_ENST00000529681.1_Silent_p.P4997P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4997 cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.P4997P(1)|p.P4952P(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) CCTCCGCCCCGCTGTCCTCGC 0.687000 6 18 0 0 0.020292 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138528 126138528 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:126138528C>T ENST00000299308.3 + 9 2517 c.2509C>T c.(2509-2511)Cct>Tct p.P837S TMEM132B_ENST00000535886.1_Missense_Mutation_p.P349S NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 837 integral to membrane p.P837S(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CCGTGGCACACCTGTTGGCCA 0.493000 4 81 0 0 0.009096 0 0 KIAA0895 23366 broad.mit.edu 37 7 36366473 36366473 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:36366473T>C ENST00000317020.6 - 6 1606 c.1306A>G c.(1306-1308)Agg>Ggg p.R436G KIAA0895_ENST00000297063.6_Missense_Mutation_p.R487G|KIAA0895_ENST00000436884.1_Missense_Mutation_p.R384G|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R474G|KIAA0895_ENST00000453212.1_Missense_Mutation_p.R242G|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R484G NM_015314.2 NP_056129.2 Q8NCT3 K0895_HUMAN KIAA0895 487 p.R487G(1)|p.R474G(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 TGAGGGACCCTCATGTTTTCG 0.383000 4 163 0 0 0.009096 0 0 NAA15 80155 broad.mit.edu 37 4 140270690 140270690 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:140270690G>A ENST00000296543.5 + 7 1089 c.766G>A c.(766-768)Gaa>Aaa p.E256K NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.E256K NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 256 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding p.E256K(1) NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GAGAAATCCTGAAAACTGGGC 0.323000 7 30 0 0 0.069234 0 0 CNDP1 84735 broad.mit.edu 37 18 72238504 72238504 + Splice_Site SNP C C T rs148458615 byFrequency TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr18:72238504C>T ENST00000582365.1 + 6 777 c.712_splice c.e6+1 p.L237_splice CNDP1_ENST00000358821.3_Splice_Site_p.L280_splice Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 280 P -> L (in Ref. 1; CAD10388). proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity p.L280L(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) TTGCTCTTCTCGGTAATGCCT 0.423000 11 111 0 0 0.093190 0 0 CDH9 1007 broad.mit.edu 37 5 26906156 26906156 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:26906156C>A ENST00000231021.4 - 5 895 c.723G>T c.(721-723)atG>atT p.M241I NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 241 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.M241I(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TCTGGCCACCCATGTCTTTGG 0.448000 34 104 1.07637e-12 1.23987e-12 0.074837 1 0 PJA1 64219 broad.mit.edu 37 X 68382049 68382049 + Missense_Mutation SNP T T G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:68382049T>G ENST00000361478.1 - 2 1410 c.1033A>C c.(1033-1035)Atg>Ctg p.M345L PJA1_ENST00000374571.4_Missense_Mutation_p.M290L|PJA1_ENST00000374583.1_Missense_Mutation_p.M345L|PJA1_ENST00000374584.3_Missense_Mutation_p.M157L NM_001032396.2|NM_022368.4|NM_145119.3 NP_001027568.1|NP_071763.2|NP_660095.1 Q8NG27 PJA1_HUMAN praja ring finger 1, E3 ubiquitin protein ligase 345 zinc ion binding p.M345L(1)|p.M157L(1) endometrium(3)|large_intestine(5)|lung(12)|ovary(1) 21 GGGTCGGCCATGGTGCGTCGT 0.527000 20 32 0 0 0.062417 0 0 NPAP1 23742 broad.mit.edu 37 15 24922224 24922224 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:24922224C>A ENST00000329468.2 + 1 1684 c.1210C>A c.(1210-1212)Cct>Act p.P404T NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.P404T(1) TTTCTCCCAACCTGTGCAGAC 0.537000 15 48 1.49906e-05 1.58621e-05 0.020292 1 0 PLEKHG4 25894 broad.mit.edu 37 16 67314355 67314355 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr16:67314355G>A ENST00000360461.5 + 1 2943 c.408G>A c.(406-408)gcG>gcA p.A136A PLEKHG4_ENST00000427155.2_Silent_p.A136A|PLEKHG4_ENST00000450733.1_Intron|PLEKHG4_ENST00000379344.3_Silent_p.A136A NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 136 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.A136A(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) CAAGCAGGGCGATGCCATCTG 0.592000 9 171 0 0 0.058154 0 0 OR2J3 442186 broad.mit.edu 37 6 29080183 29080183 + Nonsense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:29080183T>A ENST00000377169.1 + 1 516 c.516T>A c.(514-516)tgT>tgA p.C172* NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C172*(1) endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 TACCTCTGTGTGGACACCGCC 0.493000 14 121 0 0 0.020292 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415206 105415206 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:105415206C>T ENST00000333244.5 - 7 6701 c.6582G>A c.(6580-6582)ggG>ggA p.G2194G AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2194 nucleus p.G2194G(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCTTGAGGTCCCCCTGCATGG 0.642000 63 103 0 0 0.048971 0 0 FBXL7 23194 broad.mit.edu 37 5 15937008 15937008 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:15937008C>T ENST00000504595.1 + 4 1670 c.1189C>T c.(1189-1191)Ctc>Ttc p.L397F FBXL7_ENST00000329673.7_Missense_Mutation_p.L385F|FBXL7_ENST00000510662.1_Missense_Mutation_p.L350F NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 397 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L397F(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 TGTGGAGTACCTCGCCAAGAA 0.602000 6 29 0 0 0.038147 0 0 ZNF559 84527 broad.mit.edu 37 19 9452759 9452759 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:9452759G>C ENST00000393883.2 + 6 1280 c.632G>C c.(631-633)aGa>aCa p.R211T ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.R275T|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000585352.1_3'UTR|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.R131T|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.R211T|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000592504.1_3'UTR NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R211T(1) endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 GGTGGAGAGAGACCATATACT 0.378000 39 42 0 0 0.039052 0 0 PPP3CB 5532 broad.mit.edu 37 10 75198098 75198098 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:75198098G>A ENST00000360663.5 - 14 1588 c.1477C>T c.(1477-1479)Cca>Tca p.P493S PPP3CB_ENST00000394828.2_Missense_Mutation_p.P484S|PPP3CB_ENST00000394829.2_Missense_Mutation_p.P494S|PPP3CB_ENST00000544628.1_Missense_Mutation_p.P121S P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta isozyme 493 Inhibitory domain. p.P165S(1)|p.P493S(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1) 22 Prostate(51;0.0119) TTCCGAGGTGGCATTCTCTCA 0.463000 4 147 0 0 0.009096 0 0 CEP192 55125 broad.mit.edu 37 18 13049425 13049425 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr18:13049425G>A ENST00000506447.1 + 16 2715 c.2635G>A c.(2635-2637)Gtg>Atg p.V879M CEP192_ENST00000430049.2_Missense_Mutation_p.V404M|CEP192_ENST00000325971.8_Missense_Mutation_p.V283M NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 474 p.V879M(1)|p.V283M(1) NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AGTAGTTGATGTGAAGACATG 0.348000 29 79 0 0 0.041601 0 0 SNHG14 104472715 broad.mit.edu 37 15 25475890 25475890 + RNA SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:25475890G>A ENST00000453082.2 + 0 1485 NR_003343.1 CCAGTGCACTGAAGCTCCAGC 0.612000 4 74 0 0 0.009096 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298632 125298632 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:125298632C>T ENST00000538699.1 - 2 1356 c.1276G>A c.(1276-1278)Gag>Aag p.E426K DCAF12L2_ENST00000360028.2_Missense_Mutation_p.E426K NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 426 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 TTGGGGAACTCTCCCATGCCA 0.612000 7 172 0 0 0.029380 0 0 MYBPC3 4607 broad.mit.edu 37 11 47364614 47364614 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:47364614C>T ENST00000399249.2 - 14 1363 c.1309G>A c.(1309-1311)Gtg>Atg p.V437M MYBPC3_ENST00000256993.4_Missense_Mutation_p.V436M|MYBPC3_ENST00000545968.1_Missense_Mutation_p.V437M Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 436 Ig-like C2-type 2. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding p.V437M(1) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CCACCCACCACGCACTGGTAG 0.627000 4 14 0 0 0.014758 0 0 RIOK1 83732 broad.mit.edu 37 6 7414615 7414615 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:7414615G>A ENST00000379834.2 + 16 2095 c.1588G>A c.(1588-1590)Gat>Aat p.D530N NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 530 ATP binding|protein serine/threonine kinase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) CCCTGACATTGATAAAAAAGT 0.458000 14 75 0 0 0.024245 0 0 WWOX 51741 broad.mit.edu 37 16 78458910 78458910 + Nonsense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr16:78458910C>G ENST00000566780.1 + 7 1115 c.749C>G c.(748-750)tCa>tGa p.S250* WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Nonsense_Mutation_p.S250*|WWOX_ENST00000402655.2_Intron NM_016373.2 NP_057457.1 Q9NZC7 WWOX_HUMAN WW domain containing oxidoreductase 250 Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity). apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway Golgi apparatus|mitochondrion|nucleus coenzyme binding|oxidoreductase activity|protein dimerization activity p.Q93E(1)|p.S250*(1) large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 7 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) TTGTGCCGCTCAGCTCCTGCC 0.507000 18 221 0 0 0.049695 0 0 AQP1 358 broad.mit.edu 37 7 30963178 30963178 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:30963178C>T ENST00000311813.4 + 4 799 c.744C>T c.(742-744)ggC>ggT p.G248G AQP1_ENST00000434909.2_Silent_p.G308G|AQP1_ENST00000409611.1_Silent_p.G197G|AQP1_ENST00000509504.1_Silent_p.G425G|AQP1_ENST00000409899.1_Silent_p.G133G|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000441328.2_Silent_p.G165G NM_198098.2 NP_932766.1 aquaporin 1 p.G248G(1)|p.G165G(1) kidney(1)|large_intestine(2)|lung(9) 12 Melanoma(862;0.16) GGACCAGCGGCCAGGTGGAGG 0.617000 16 49 0 0 0.055883 0 0 KCNQ2 3785 broad.mit.edu 37 20 62073780 62073780 + Silent SNP C C T rs148654588 TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:62073780C>T ENST00000354587.3 - 5 971 c.795G>A c.(793-795)gcG>gcA p.A265A KCNQ2_ENST00000344462.3_Silent_p.A265A|KCNQ2_ENST00000344425.5_Silent_p.A265A|KCNQ2_ENST00000370226.1_Silent_p.A265A|KCNQ2_ENST00000370224.1_Silent_p.A265A|KCNQ2_ENST00000430658.1_Silent_p.A265A|KCNQ2_ENST00000370221.1_Silent_p.A265A|KCNQ2_ENST00000360480.3_Silent_p.A265A|KCNQ2_ENST00000370222.3_Silent_p.A265A|KCNQ2_ENST00000357249.2_Silent_p.A265A|KCNQ2_ENST00000359689.1_Silent_p.A265A|KCNQ2_ENST00000359125.2_Silent_p.A265A O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 265 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.A265A(2) biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) AGAGTGCATCCGCGTAGGTGT 0.577000 8 440 0 0 0.047766 0 0 UBAC1 10422 broad.mit.edu 37 9 138837002 138837002 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:138837002C>T ENST00000371756.3 - 7 965 c.748G>A c.(748-750)Gag>Aag p.E250K UBAC1_ENST00000465873.1_5'UTR NM_016172.2 NP_057256.2 Q9BSL1 UBAC1_HUMAN UBA domain containing 1 250 Golgi apparatus|plasma membrane protein binding p.E250K(1) NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06) GTGGCCCCCTCGGCCTCTGGG 0.627000 4 58 0 0 0.014758 0 0 ZNF544 27300 broad.mit.edu 37 19 58773673 58773673 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:58773673G>C ENST00000269829.4 + 7 2175 c.1701G>C c.(1699-1701)caG>caC p.Q567H CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596652.1_Missense_Mutation_p.Q567H|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.Q539H|ZNF544_ENST00000599953.1_Missense_Mutation_p.Q425H|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.Q539H|ZNF544_ENST00000415203.2_Missense_Mutation_p.Q539H|ZNF544_ENST00000596825.1_3'UTR NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 567 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q567H(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) TCATACATCAGAGAATTCATA 0.418000 6 125 0 0 0.029380 0 0 WARS 7453 broad.mit.edu 37 14 100820874 100820874 + Missense_Mutation SNP T T G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:100820874T>G ENST00000355338.2 - 5 1070 c.452A>C c.(451-453)gAa>gCa p.E151A WARS_ENST00000344102.5_Missense_Mutation_p.E110A|WARS_ENST00000358655.4_Missense_Mutation_p.E110A|WARS_ENST00000392882.2_Missense_Mutation_p.E151A|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000556645.1_Missense_Mutation_p.E110A|WARS_ENST00000557135.1_Missense_Mutation_p.E151A NM_173701.1 NP_776049.1 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase 151 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity p.E151A(1) breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) CTTCTTATTTTCATAGGCATC 0.393000 20 115 0 0 0.055883 0 0 SMTN 6525 broad.mit.edu 37 22 31486831 31486831 + Silent SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:31486831G>T ENST00000333137.7 + 9 1121 c.903G>T c.(901-903)tcG>tcT p.S301S SMTN_ENST00000358743.1_Silent_p.S301S|SMTN_ENST00000347557.2_Silent_p.S301S NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 301 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle p.S301S(2)|p.S293S(1) breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 GCTCCCTGTCGGTGCTCAGCC 0.627000 25 148 1.88708e-17 2.25953e-17 0.037714 1 0 TCEB3C 162699 broad.mit.edu 37 18 44555306 44555306 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr18:44555306G>T ENST00000330682.2 - 1 1143 c.908C>A c.(907-909)cCa>cAa p.P303Q KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 303 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding p.P303Q(1) NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 CTGGAGCGCTGGCGCGGAGAG 0.637000 43 1846 2.89027e-11 3.28768e-11 0.069288 1 0 CSMD3 114788 broad.mit.edu 37 8 114290863 114290863 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:114290863C>A ENST00000297405.5 - 3 716 c.472G>T c.(472-474)Gat>Tat p.D158Y CSMD3_ENST00000455883.2_Missense_Mutation_p.D158Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D158Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D118Y NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 158 CUB 1. integral to membrane|plasma membrane p.D158Y(1)|p.D118Y(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ACTGCAAAATCACTGGTCAAA 0.368000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 28 0.0581538 0.0591284 0.058154 1 0 ATF6 22926 broad.mit.edu 37 1 161833091 161833091 + Missense_Mutation SNP T T G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:161833091T>G ENST00000367942.3 + 14 1775 c.1708T>G c.(1708-1710)Tca>Gca p.S570A NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 570 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.S570A(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) TTATGTTGTGTCATTTCGAAG 0.393000 4 98 0 0 0.009096 0 0 WRN 7486 broad.mit.edu 37 8 30924661 30924661 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:30924661C>T ENST00000298139.5 + 6 866 c.617C>T c.(616-618)aCt>aTt p.T206I NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 206 3'-5' exonuclease.|Interaction with WRNIP1 (By similarity). base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding p.T206I(1) central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TTTCCTCTCACTGAGGACCAG 0.383000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 6 49 0 0 0.029380 0 0 PSEN1 5663 broad.mit.edu 37 14 73653563 73653563 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:73653563C>T ENST00000324501.5 + 6 755 c.483C>T c.(481-483)gtC>gtT p.V161V PSEN1_ENST00000261970.3_Silent_p.V161V|PSEN1_ENST00000394164.1_Silent_p.V157V|PSEN1_ENST00000357710.4_Silent_p.V157V|PSEN1_ENST00000344094.3_Silent_p.V161V|PSEN1_ENST00000557511.1_Silent_p.V161V|PSEN1_ENST00000406768.1_Silent_p.V69V NM_000021.3|NM_007318.2 NP_000012.1|NP_015557.2 P49768 PSN1_HUMAN presenilin 1 161 amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding p.V161V(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) TTTTCTAGGTCATCCATGCCT 0.333000 6 308 0 0 0.047766 0 0 EFCAB6 64800 broad.mit.edu 37 22 43933318 43933318 + Silent SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:43933318C>G ENST00000262726.7 - 29 4240 c.3987G>C c.(3985-3987)ctG>ctC p.L1329L EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.L1177L NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1329 Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding p.L1329L(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TGCATTCTTTCAGGAGCTGGC 0.567000 10 187 0 0 0.058154 0 0 HERC6 55008 broad.mit.edu 37 4 89334306 89334306 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:89334306C>T ENST00000380265.5 + 12 1629 c.1446C>T c.(1444-1446)ttC>ttT p.F482F HERC6_ENST00000264346.7_Silent_p.F482F NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 482 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity p.F482F(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) TATCAGTTTTCCTCCTGCTCC 0.443000 30 226 0 0 0.050027 0 0 TTC17 55761 broad.mit.edu 37 11 43411267 43411267 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:43411267G>C ENST00000039989.4 + 3 329 c.315G>C c.(313-315)caG>caC p.Q105H TTC17_ENST00000299240.6_Missense_Mutation_p.Q105H NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 105 binding p.Q105H(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 GACTGGAACAGAGACATAATA 0.403000 7 122 0 0 0.038147 0 0 IL6R 3570 broad.mit.edu 37 1 154422396 154422396 + Missense_Mutation SNP A A T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:154422396A>T ENST00000368485.3 + 8 1443 c.1006A>T c.(1006-1008)Act>Tct p.T336S IL6R_ENST00000344086.4_Missense_Mutation_p.T336S|IL6R_ENST00000507256.1_3'UTR NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor 336 acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity p.T336S(1) IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGCACTTACTACTAATAAAGA 0.458000 30 196 0 0 0.037714 0 0 IGHG3 3502 broad.mit.edu 37 14 106236312 106236312 + RNA SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:106236312G>A ENST00000390551.2 - 0 491 GGTCCTCCCAGGAGTTCAGGT 0.597000 28 54 0 0 0.034045 0 0 C2orf54 79919 broad.mit.edu 37 2 241826542 241826542 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:241826542G>A ENST00000307486.8 - 5 940 c.842C>T c.(841-843)tCt>tTt p.S281F C2orf54_ENST00000402775.2_Missense_Mutation_p.S262F|C2orf54_ENST00000388934.4_Missense_Mutation_p.S430F Q08AI8 CB054_HUMAN chromosome 2 open reading frame 54 430 p.S430F(1) haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) CTGCATGGCAGAGATCCGGTC 0.582000 31 99 0 0 0.045705 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508499 106508499 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:106508499G>A ENST00000359195.3 + 2 803 c.493G>A c.(493-495)Gtc>Atc p.V165I PIK3CG_ENST00000440650.2_Missense_Mutation_p.V165I|PIK3CG_ENST00000496166.1_Missense_Mutation_p.V165I NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 165 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding p.V165I(1) breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CGTCACTGACGTCAGCAACGT 0.677000 6 26 0 0 0.029380 0 0 PPFIA1 8500 broad.mit.edu 37 11 70184483 70184483 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:70184483C>G ENST00000253925.7 + 13 1710 c.1495C>G c.(1495-1497)Cag>Gag p.Q499E PPFIA1_ENST00000389547.3_Missense_Mutation_p.Q499E|AP000487.6_ENST00000528607.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 499 cell-matrix adhesion cytoplasm protein binding|signal transducer activity p.Q499E(1) breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TCTGTAGGATCAGCTTGTCCT 0.408000 5 173 0 0 0.014758 0 0 ABCC4 10257 broad.mit.edu 37 13 95724037 95724037 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr13:95724037C>A ENST00000376887.4 - 25 3203 c.3089G>T c.(3088-3090)cGc>cTc p.R1030L ABCC4_ENST00000474158.1_5'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.R983L NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1030 platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity p.R1030L(2) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TGGTGGTGGGCGTTTCTGATA 0.463000 36 109 2.40579e-17 2.87117e-17 0.086207 1 0 MAP2 4133 broad.mit.edu 37 2 210557842 210557842 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:210557842C>T ENST00000360351.4 + 7 1454 c.948C>T c.(946-948)ccC>ccT p.P316P MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Silent_p.P312P|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 316 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity p.P316P(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TGCCAAGTCCCTTTCAAGGGG 0.448000 43 83 0 0 0.042209 0 0 SCML4 256380 broad.mit.edu 37 6 108041921 108041921 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:108041921T>A ENST00000369022.2 - 5 994 c.785A>T c.(784-786)gAa>gTa p.E262V SCML4_ENST00000369021.3_Missense_Mutation_p.E291V|SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369025.2_Missense_Mutation_p.E78V|SCML4_ENST00000369020.3_Missense_Mutation_p.E320V Q8N228 SCML4_HUMAN sex comb on midleg-like 4 (Drosophila) 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.E320V(1)|p.E291V(1) endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) TCTGTTTCCTTCAAGAGAGGT 0.597000 40 189 0 0 0.111260 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659593 24659593 + RNA SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:24659593C>T ENST00000414583.2 + 0 3118 NR_003714.1 TCACTGACATCGAAGGCTGCC 0.632000 3 28 0 0 0.021553 0 0 AHI1 54806 broad.mit.edu 37 6 135763829 135763829 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:135763829G>C ENST00000367800.4 - 12 2019 c.1803C>G c.(1801-1803)caC>caG p.H601Q AHI1_ENST00000327035.6_Missense_Mutation_p.H601Q|AHI1_ENST00000457866.2_Missense_Mutation_p.H601Q NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 601 adherens junction|cilium|microtubule basal body p.H601Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) GTGAGAAGAGGTGTTTGTTTG 0.373000 4 7 0 0 0.014758 0 0 GNB5 10681 broad.mit.edu 37 15 52418243 52418243 + Splice_Site SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:52418243T>C ENST00000261837.7 - 11 978 c.e11-2 CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000358784.7_Splice_Site|GNB5_ENST00000396335.4_Splice_Site|GNB5_ENST00000559348.1_Splice_Site NM_016194.3 NP_057278.2 O14775 GBB5_HUMAN guanine nucleotide binding protein (G protein), beta 5 heterotrimeric G-protein complex GTPase activity|signal transducer activity p.?(1) large_intestine(1)|lung(1) 2 all cancers(107;0.0163) GAGGCGACACTGGGGAGCAAA 0.478000 2 5 0 0 0.004672 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589829 140589829 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:140589829C>T ENST00000239450.2 + 1 1539 c.1350C>T c.(1348-1350)gcC>gcT p.A450A PCDHB12_ENST00000541609.1_Silent_p.A113A NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 450 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.A450A(1) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGCCCCCGCCTTCACCCAAA 0.602000 64 61 0 0 0.048971 0 0 COLQ 8292 broad.mit.edu 37 3 15515524 15515524 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr3:15515524C>T ENST00000383785.2 - 10 744 c.619G>A c.(619-621)Gga>Aga p.G207R COLQ_ENST00000435459.2_Intron|COLQ_ENST00000383781.4_Missense_Mutation_p.G197R|COLQ_ENST00000383786.5_Missense_Mutation_p.G173R|COLQ_ENST00000383788.5_Missense_Mutation_p.G207R|COLQ_ENST00000383787.2_Missense_Mutation_p.G198R|COLQ_ENST00000603808.1_Missense_Mutation_p.G207R Q9Y215 COLQ_HUMAN collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 207 Collagen-like 1. acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft p.G207R(1)|p.G197R(1) endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 CCCAACATTCCAGGAAATCCT 0.413000 3 46 0 0 0.004672 0 0 CCDC108 255101 broad.mit.edu 37 2 219896286 219896286 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:219896286C>T ENST00000341552.5 - 7 823 c.740G>A c.(739-741)cGc>cAc p.R247H CCDC108_ENST00000441968.1_Missense_Mutation_p.R247H|CCDC108_ENST00000453220.1_Missense_Mutation_p.R247H|CCDC108_ENST00000410037.1_Missense_Mutation_p.R182H|CCDC108_ENST00000409865.3_Missense_Mutation_p.R236H NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 247 integral to membrane structural molecule activity p.R247H(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGATGGTGGGCGGCAGATCAG 0.607000 50 198 0 0 0.048971 0 0 ARL14EP 120534 broad.mit.edu 37 11 30352809 30352809 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:30352809T>C ENST00000282032.3 + 2 529 c.314T>C c.(313-315)tTt>tCt p.F105S NM_152316.1 NP_689529.1 ADP-ribosylation factor-like 14 effector protein p.F105S(1) AGTGCTAAATTTGGAAGACAG 0.378000 10 86 0 0 0.093190 0 0 EIF4G2 1982 broad.mit.edu 37 11 10821641 10821641 + Silent SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:10821641G>C ENST00000526148.1 - 18 2625 c.2115C>G c.(2113-2115)ctC>ctG p.L705L EIF4G2_ENST00000396525.2_Silent_p.L667L|EIF4G2_ENST00000339995.5_Silent_p.L705L|EIF4G2_ENST00000525681.1_Silent_p.L705L|RP11-685M7.5_ENST00000532365.1_RNA NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 705 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity p.L705L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TCTTACCTGGGAGCATTTTCT 0.353000 4 108 0 0 0.009096 0 0 RYR2 6262 broad.mit.edu 37 1 237774276 237774276 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:237774276C>A ENST00000366574.2 + 36 5215 c.4898C>A c.(4897-4899)cCt>cAt p.P1633H RYR2_ENST00000360064.6_Missense_Mutation_p.P1631H|RYR2_ENST00000542537.1_Missense_Mutation_p.P1617H NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1633 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.P1631H(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTCATATCCCTGAGGAAAAC 0.542000 20 30 7.41877e-09 8.10941e-09 0.062417 1 0 SHQ1 55164 broad.mit.edu 37 3 72866403 72866403 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr3:72866403C>T ENST00000325599.8 - 7 999 c.860G>A c.(859-861)cGt>cAt p.R287H SHQ1_ENST00000463369.1_Missense_Mutation_p.R259H NM_018130.2 NP_060600.2 Q6PI26 SHQ1_HUMAN SHQ1, H/ACA ribonucleoprotein assembly factor 287 ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding p.R287H(1) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) TTCAGTGACACGGGTTTCATA 0.408000 19 63 0 0 0.055883 0 0 ADAP2 55803 broad.mit.edu 37 17 29283319 29283319 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:29283319G>A ENST00000330889.3 + 10 1278 c.943G>A c.(943-945)Gaa>Aaa p.E315K ADAP2_ENST00000580525.1_Missense_Mutation_p.E321K|AC091177.1_ENST00000442757.1_RNA NM_018404.2 NP_060874.1 Q9NPF8 ADAP2_HUMAN ArfGAP with dual PH domains 2 315 PH 2. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.E315K(1)|p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 TGAAGCCTACGAAGACCTGCC 0.557000 4 100 0 0 0.021553 0 0 KIF1B 23095 broad.mit.edu 37 1 10436630 10436630 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:10436630C>G ENST00000377086.1 + 49 5638 c.5436C>G c.(5434-5436)agC>agG p.S1812R KIF1B_ENST00000263934.6_Missense_Mutation_p.S1766R|KIF1B_ENST00000377081.1_Intron O60333 KIF1B_HUMAN kinesin family member 1B 1812 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding p.S1766R(1) breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GATGCCCGAGCCAGTCGAAAT 0.517000 86 80 0 0 0.048971 0 0 ART5 116969 broad.mit.edu 37 11 3661475 3661475 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:3661475C>T ENST00000397068.3 - 2 576 c.184G>A c.(184-186)Gcc>Acc p.A62T ART5_ENST00000359918.4_Missense_Mutation_p.A62T|ART5_ENST00000397067.3_Missense_Mutation_p.A62T NM_053017.3 NP_443750.2 Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 62 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity p.A62T(1) breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1) 11 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) CGCAGCAGGGCATGGTGGGCC 0.607000 18 42 0 0 0.062417 0 0 ATP5L 10632 broad.mit.edu 37 11 118279753 118279753 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:118279753G>T ENST00000300688.3 + 3 764 c.252G>T c.(250-252)ttG>ttT p.L84F ATP5L_ENST00000529770.1_3'UTR|ATP5L_ENST00000524422.1_Intron NM_006476.4 NP_006467.4 O75964 ATP5L_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G 84 ATP catabolic process|respiratory electron transport chain mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|protein binding p.L84F(1) breast(1)|endometrium(1)|large_intestine(2)|lung(3) 7 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05) CTGAGGTGTTGATGTGGTTTT 0.323000 18 26 2.21704e-12 2.54574e-12 0.076483 1 0 OR5M9 390162 broad.mit.edu 37 11 56230488 56230488 + Silent SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:56230488A>G ENST00000279791.1 - 1 389 c.390T>C c.(388-390)taT>taC p.Y130Y NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y130Y(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) TTTTACTGCCATAAAGCAGAG 0.483000 34 42 0 0 0.080422 0 0 SEC61G 23480 broad.mit.edu 37 7 54823477 54823477 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:54823477G>A ENST00000415949.1 - 4 558 c.192C>T c.(190-192)atC>atT p.I64I SEC61G_ENST00000352861.4_Silent_p.I64I|SEC61G_ENST00000395535.3_Silent_p.I64I|SEC61G_ENST00000450622.1_Silent_p.I64I P60059 SC61G_HUMAN Sec61 gamma subunit 64 protein targeting to ER endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity p.I64I(1) kidney(1)|lung(5) 6 Esophageal squamous(2;7.55e-08)|Breast(14;0.0654) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164) CTTACACAATGATGTTATTAA 0.333000 13 82 0 0 0.093190 0 0 MYH7 4625 broad.mit.edu 37 14 23900998 23900998 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:23900998C>T ENST00000355349.3 - 7 773 c.611G>A c.(610-612)cGc>cAc p.R204H NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 204 Myosin head-like. R -> H (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R204H(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTTCTTGCTGCGGTCCCCAAT 0.572000 34 133 0 0 0.048971 0 0 TSKU 25987 broad.mit.edu 37 11 76507537 76507537 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:76507537C>G ENST00000527881.1 + 2 1903 c.877C>G c.(877-879)Ccc>Gcc p.P293A TSKU_ENST00000333090.4_Missense_Mutation_p.P293A Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 293 extracellular region p.P293A(1) NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) CAACCTGGTGCCCCTGCCTGA 0.682000 19 23 0 0 0.091800 0 0 DPPA3P2 400206 broad.mit.edu 37 14 36840725 36840725 + RNA SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:36840725C>T ENST00000557188.1 + 0 356 p.T36M(1) TCCTCCGAGACGTTGATAAAG 0.488000 5 31 0 0 0.021553 0 0 ZBTB34 403341 broad.mit.edu 37 9 129642401 129642401 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:129642401G>C ENST00000319119.4 + 2 808 c.723G>C c.(721-723)aaG>aaC p.K241N ZBTB34_ENST00000373452.2_Missense_Mutation_p.K237N NM_001099270.1 NP_001092740.1 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K241N(1) endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 TGAAAGTGAAGATGGAGAAGT 0.547000 10 127 0 0 0.069234 0 0 DNAH2 146754 broad.mit.edu 37 17 7644211 7644211 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:7644211G>A ENST00000572933.1 + 11 3050 c.1590G>A c.(1588-1590)cgG>cgA p.R530R DNAH2_ENST00000570791.1_Silent_p.R612R|DNAH2_ENST00000389173.2_Silent_p.R530R|DNAH2_ENST00000082259.3_Silent_p.R612R Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 530 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R530R(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACCGTGAACGGAACAAGAAAT 0.567000 17 107 0 0 0.055883 0 0 CCDC136 64753 broad.mit.edu 37 7 128457828 128457828 + Missense_Mutation SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:128457828A>G ENST00000297788.4 + 17 3747 c.3380A>G c.(3379-3381)aAt>aGt p.N1127S CCDC136_ENST00000487361.1_Missense_Mutation_p.N488S|CCDC136_ENST00000378685.4_Missense_Mutation_p.N407S|CCDC136_ENST00000464832.1_Missense_Mutation_p.N419S|CCDC136_ENST00000471729.1_Intron NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 1127 integral to membrane protein binding p.N1243S(1)|p.N1127S(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 CCTACCCCCAATCCCCCCATC 0.517000 62 273 0 0 0.048971 0 0 ISX 91464 broad.mit.edu 37 22 35463277 35463277 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr22:35463277G>T ENST00000308700.6 + 1 1149 c.197G>T c.(196-198)gGg>gTg p.G66V RP1-272J12.1_ENST00000448318.4_RNA|ISX_ENST00000404699.2_Missense_Mutation_p.G66V NM_001008494.1 NP_001008494.1 Q2M1V0 ISX_HUMAN intestine-specific homeobox 66 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G66V(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 TCAGGCTCTGGGCTAGAAAAG 0.567000 4 8 0.00198382 0.00204564 0.029380 1 0 MUC5B 727897 broad.mit.edu 37 11 1265896 1265896 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:1265896C>T ENST00000447027.1 + 31 7853 c.7795C>T c.(7795-7797)Ccc>Tcc p.P2599S MUC5B_ENST00000529681.1_Missense_Mutation_p.P2596S|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2596 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.P2596S(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) TGTGGCCACCCCCTCCTCCAC 0.652000 9 73 0 0 0.020292 0 0 RIC3 79608 broad.mit.edu 37 11 8159825 8159825 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:8159825T>C ENST00000343202.4 - 3 486 c.421A>G c.(421-423)Aaa>Gaa p.K141E RIC3_ENST00000425599.2_Missense_Mutation_p.K141E|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.K92E|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000309737.6_Missense_Mutation_p.K141E NM_001206671.2|NM_024557.4 NP_001193600.1|NP_078833.3 Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 141 endoplasmic reticulum membrane|Golgi membrane|integral to membrane p.K141E(1) breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) TTACTAATTTTCCTGTGGGTG 0.423000 74 241 0 0 0.048971 0 0 WDFY3 23001 broad.mit.edu 37 4 85716110 85716110 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:85716110C>A ENST00000322366.6 - 20 3597 c.3190G>T c.(3190-3192)Gcc>Tcc p.A1064S WDFY3_ENST00000295888.4_Missense_Mutation_p.A1064S Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1064 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding p.L1063_A1064>FS(1) breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTATGAGGGGCCAAACTGGGC 0.393000 8 19 5.50884e-06 5.86321e-06 0.093190 1 0 PDGFA 5154 broad.mit.edu 37 7 552037 552037 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:552037C>G ENST00000402802.3 - 3 623 c.216G>C c.(214-216)aaG>aaC p.K72N PDGFA_ENST00000354513.5_Missense_Mutation_p.K72N NM_033023.4 NP_148983.1 P04085 PDGFA_HUMAN platelet-derived growth factor alpha polypeptide 72 actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity p.K72N(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15) CGGGCACATGCTTAGTGGCAT 0.652000 4 68 0 0 0.014758 0 0 SCLT1 132320 broad.mit.edu 37 4 129925026 129925026 + Missense_Mutation SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:129925026T>C ENST00000281142.5 - 6 799 c.296A>G c.(295-297)cAc>cGc p.H99R SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Missense_Mutation_p.H76R|SCLT1_ENST00000434680.1_Missense_Mutation_p.H99R NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 99 centrosome p.H99R(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 TAATTCACTGTGCAACCTTTG 0.368000 15 24 0 0 0.069288 0 0 GPR155 151556 broad.mit.edu 37 2 175301048 175301048 + Silent SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:175301048C>G ENST00000392552.2 - 16 2647 c.2409G>C c.(2407-2409)gtG>gtC p.V803V GPR155_ENST00000392551.2_Silent_p.V803V|GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000295500.4_Silent_p.V803V NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 803 DEP. intracellular signal transduction|transmembrane transport integral to membrane p.V803V(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 CTCCGTATATCACAGCTTCAC 0.483000 8 217 0 0 0.047766 0 0 RAD17 5884 broad.mit.edu 37 5 68670478 68670478 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:68670478G>A ENST00000509734.1 + 5 1002 c.324G>A c.(322-324)aaG>aaA p.K108K RAD17_ENST00000354312.3_Silent_p.K97K|RAD17_ENST00000361732.2_Silent_p.K97K|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000345306.6_Silent_p.K97K|RAD17_ENST00000354868.5_Silent_p.K97K|RAD17_ENST00000282891.6_Silent_p.K11K|RAD17_ENST00000305138.4_Silent_p.K97K|RAD17_ENST00000380774.3_Silent_p.K108K|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000504177.1_Intron O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 108 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 p.K97K(1) 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) TGCATAAAAAGAAAATTGAAG 0.284000 Other conserved DNA damage response genes 5 28 0 0 0.021553 0 0 GPI 2821 broad.mit.edu 37 19 34868425 34868425 + Silent SNP C C T rs11548997 TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:34868425C>T ENST00000356487.5 + 5 661 c.420C>T c.(418-420)gaC>gaT p.D140D GPI_ENST00000586425.1_Silent_p.D140D|GPI_ENST00000415930.3_Intron NM_000175.3 NP_000166.2 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 140 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity p.D140D(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) GGAGCGGTGACTGGAAGGGGT 0.587000 32 114 0 0 0.098360 0 0 SNRNP40 9410 broad.mit.edu 37 1 31769485 31769485 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:31769485C>A ENST00000263694.4 - 1 132 c.114G>T c.(112-114)caG>caT p.Q38H SNRNP40_ENST00000446633.2_Missense_Mutation_p.Q38H NM_004814.2 NP_004805.2 Q96DI7 SNR40_HUMAN small nuclear ribonucleoprotein 40kDa (U5) 38 catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP protein binding p.Q38H(1) breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 7 CCGGCGTCGCCTGCTGCTGCC 0.642000 45 68 4.01344e-20 4.86964e-20 0.048971 1 0 LRRTM3 347731 broad.mit.edu 37 10 68686790 68686790 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:68686790G>A ENST00000361320.4 + 2 694 c.116G>A c.(115-117)aGg>aAg p.R39K CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 39 LRRNT. integral to membrane p.R39K(2) breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 AAGGGCTGTAGGTGTGAAGGC 0.463000 9 84 0 0 0.058154 0 0 SHC3 53358 broad.mit.edu 37 9 91660680 91660680 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:91660680C>A ENST00000375835.4 - 9 1488 c.1182G>T c.(1180-1182)caG>caT p.Q394H SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 394 CH1. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity p.Q394H(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 AAGGTGTTTGCTGCCAGTCTT 0.423000 15 79 2.32078e-09 2.5599e-09 0.024245 1 0 IGHV3-38 28429 broad.mit.edu 37 14 106866502 106866502 + RNA SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:106866502T>A ENST00000390618.2 - 0 329 AGATGGTGAATCTGCCCTTCC 0.522000 16 316 0 0 0.024245 0 0 KRT26 353288 broad.mit.edu 37 17 38926018 38926018 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:38926018G>A ENST00000335552.4 - 5 1005 c.957C>T c.(955-957)tcC>tcT p.S319S NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 319 Coil 2.|Rod. intermediate filament structural molecule activity p.S319S(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) CAGCCATGAGGGACTGAAGTT 0.398000 7 124 0 0 0.047766 0 0 LOXL4 84171 broad.mit.edu 37 10 100021845 100021845 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:100021845G>A ENST00000260702.3 - 3 553 c.403C>T c.(403-405)Cgg>Tgg p.R135W NM_032211.6 NP_115587.6 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 135 extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity p.R135W(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) CGATGGCGCCGGGGGTGGCAT 0.602000 4 31 0 0 0.014758 0 0 GCC2 9648 broad.mit.edu 37 2 109116083 109116083 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:109116083G>C ENST00000309863.6 + 22 5571 c.4857G>C c.(4855-4857)ttG>ttC p.L1619F NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 1619 GRIP.|Mediates interaction with RAB9A. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding p.L1619F(1) breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 TGGAATACTTGAAGAACGTCT 0.393000 4 305 0 0 0.014758 0 0 NELL2 4753 broad.mit.edu 37 12 45169914 45169914 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:45169914C>T ENST00000429094.2 - 8 1286 c.782G>A c.(781-783)cGa>cAa p.R261Q NELL2_ENST00000551601.1_Missense_Mutation_p.R260Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R311Q|NELL2_ENST00000549027.1_Missense_Mutation_p.R260Q|NELL2_ENST00000333837.4_Missense_Mutation_p.R284Q|NELL2_ENST00000452445.2_Missense_Mutation_p.R261Q|NELL2_ENST00000395487.2_Missense_Mutation_p.R260Q NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 261 cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity p.R261Q(1)|p.R311Q(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TCTATTCATTCGCTGTTCAGC 0.453000 5 86 0 0 0.021553 0 0 C16orf91 283951 broad.mit.edu 37 16 1470042 1470042 + Missense_Mutation SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr16:1470042C>G ENST00000310355.1 - 5 972 c.973G>C c.(973-975)Gat>Cat p.D325H C16orf91_ENST00000563974.1_3'UTR|C16orf91_ENST00000442039.2_3'UTR Q4G0I0 CSMT1_HUMAN chromosome 16 open reading frame 91 0 integral to membrane p.D325H(1) breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 CCTTGGACATCAAGAGCCAGG 0.502000 11 98 0 0 0.093190 0 0 AK7 122481 broad.mit.edu 37 14 96949491 96949491 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:96949491G>A ENST00000267584.4 + 16 1953 c.1909G>A c.(1909-1911)Gaa>Aaa p.E637K NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 637 Glu-rich. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity p.E637K(1) breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GGCTGCTGAGGAAGCAGAACG 0.567000 5 22 0 0 0.014758 0 0 BRAF 673 broad.mit.edu 37 7 140481402 140481402 + Missense_Mutation SNP C C A rs121913358 TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:140481402C>A ENST00000288602.6 - 11 1466 c.1406G>T c.(1405-1407)gGa>gTa p.G469V NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 469 Protein kinase. G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) GTAGACTGTTCCAAATGATCC 0.373000 G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 56 108 2.32099e-22 2.84458e-22 0.048971 1 0 NAV3 89795 broad.mit.edu 37 12 78562616 78562616 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:78562616G>T ENST00000397909.2 + 24 5124 c.4951G>T c.(4951-4953)Gca>Tca p.A1651S NAV3_ENST00000266692.7_Missense_Mutation_p.A1474S|NAV3_ENST00000536525.2_Missense_Mutation_p.A1651S|NAV3_ENST00000228327.6_Missense_Mutation_p.A1651S Q8IVL0 NAV3_HUMAN neuron navigator 3 1651 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.A1651S(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TATTCAGGGAGCACTGAATGG 0.373000 HNSCC(70;0.22) 10 16 6.42651e-13 7.42619e-13 0.080935 1 0 LPHN2 23266 broad.mit.edu 37 1 82432241 82432241 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:82432241C>T ENST00000370728.1 + 15 2930 c.2285C>T c.(2284-2286)tCc>tTc p.S762F LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.S749F|LPHN2_ENST00000370725.1_Missense_Mutation_p.S762F|LPHN2_ENST00000319517.6_Missense_Mutation_p.S749F|LPHN2_ENST00000271029.4_Missense_Mutation_p.S762F|LPHN2_ENST00000370715.1_Missense_Mutation_p.S749F|LPHN2_ENST00000359929.3_Missense_Mutation_p.S749F|LPHN2_ENST00000370713.1_Missense_Mutation_p.S749F|LPHN2_ENST00000370730.1_Missense_Mutation_p.S762F|LPHN2_ENST00000370723.1_Missense_Mutation_p.S749F|LPHN2_ENST00000370717.2_Missense_Mutation_p.S762F|LPHN2_ENST00000370721.1_Missense_Mutation_p.S687F|LPHN2_ENST00000335786.5_Missense_Mutation_p.S762F|LPHN2_ENST00000370727.1_Missense_Mutation_p.S762F O95490 LPHN2_HUMAN latrophilin 2 762 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.S749F(1)|p.S762F(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AATAAAGAGTCCAGCCGAGTA 0.383000 6 250 0 0 0.021553 0 0 ACPL2 92370 broad.mit.edu 37 3 141006210 141006210 + Silent SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr3:141006210C>T ENST00000508812.1 + 4 2300 c.393C>T c.(391-393)tcC>tcT p.S131S ACPL2_ENST00000504264.1_Silent_p.S123S|ACPL2_ENST00000393007.1_Silent_p.S124S|ACPL2_ENST00000393010.2_Silent_p.S140S|ACPL2_ENST00000286353.4_Silent_p.S140S|ACPL2_ENST00000502783.1_Silent_p.S102S|RP11-438D8.2_ENST00000507698.1_RNA Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 140 extracellular region acid phosphatase activity p.S140S(1) endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 CAAAAGGATCCGGAGCCTCTT 0.483000 85 225 0 0 0.048971 0 0 PTPRD 5789 broad.mit.edu 37 9 8465635 8465635 + Missense_Mutation SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:8465635T>A ENST00000381196.4 - 29 4088 c.3545A>T c.(3544-3546)tAt>tTt p.Y1182F PTPRD_ENST00000360074.4_Missense_Mutation_p.Y1169F|PTPRD_ENST00000540109.1_Missense_Mutation_p.Y1182F|PTPRD_ENST00000537002.1_Missense_Mutation_p.Y768F|PTPRD_ENST00000358503.5_Missense_Mutation_p.Y1160F|PTPRD_ENST00000486161.1_Missense_Mutation_p.Y771F|PTPRD_ENST00000356435.5_Missense_Mutation_p.Y1182F|PTPRD_ENST00000355233.5_Missense_Mutation_p.Y771F|PTPRD_ENST00000397606.3_Missense_Mutation_p.Y761F|PTPRD_ENST00000397611.3_Missense_Mutation_p.Y768F|PTPRD_ENST00000397617.3_Missense_Mutation_p.Y761F NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1182 Cleavage (Probable). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.Y1182F(2)|p.Y653F(1)|p.Y771F(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTCTCTCCCATAACGGATGCT 0.408000 TSP Lung(15;0.13) 12 38 0 0 0.020292 0 0 KIAA1804 84451 broad.mit.edu 37 1 233514864 233514864 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:233514864G>T ENST00000366624.3 + 9 2373 c.2112G>T c.(2110-2112)atG>atT p.M704I MLK4_ENST00000366622.1_Missense_Mutation_p.M150I NM_032435.2 NP_115811.2 p.M704I(1) CCATTGAGATGACTCCTACGA 0.537000 16 76 4.7796e-09 5.24029e-09 0.099896 1 0 HVCN1 84329 broad.mit.edu 37 12 111099152 111099152 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:111099152G>A ENST00000356742.5 - 3 876 c.123C>T c.(121-123)aaC>aaT p.N41N HVCN1_ENST00000548312.1_Silent_p.N41N|HVCN1_ENST00000439744.2_Silent_p.N21N|HVCN1_ENST00000242607.8_Silent_p.N41N Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 41 response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity p.N41N(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 ATTTCTTGTAGTTGATGTTCC 0.587000 19 61 0 0 0.062417 0 0 GADL1 339896 broad.mit.edu 37 3 30842577 30842577 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr3:30842577G>T ENST00000454381.3 - 12 1100 c.1054C>A c.(1054-1056)Ctt>Att p.L352I GADL1_ENST00000282538.5_Missense_Mutation_p.L352I Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 352 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding p.L168I(1)|p.L352I(1) breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) TTTTTAAGAAGATCCTTCGAA 0.353000 31 29 8.16721e-17 9.6836e-17 0.045705 1 0 ZNF782 158431 broad.mit.edu 37 9 99581987 99581987 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr9:99581987G>A ENST00000481138.1 - 6 979 c.318C>T c.(316-318)ttC>ttT p.F106F ZNF782_ENST00000535338.1_5'UTR|ZNF782_ENST00000466833.1_5'UTR NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F106F(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) ATTTATTGGTGAATAAAACTT 0.328000 5 34 0 0 0.014758 0 0 ASH1L 55870 broad.mit.edu 37 1 155448829 155448829 + Nonsense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:155448829G>A ENST00000368346.3 - 3 4471 c.3832C>T c.(3832-3834)Cag>Tag p.Q1278* ASH1L_ENST00000392403.3_Nonsense_Mutation_p.Q1278* Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1278 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.Q1278*(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTTCGAAGCTGGGGATATTTC 0.378000 7 321 0 0 0.029380 0 0 ZNF669 79862 broad.mit.edu 37 1 247265290 247265290 + Splice_Site SNP T T C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:247265290T>C ENST00000343381.6 - 2 559 c.388_splice c.e2+1 p.V129_splice ZNF669_ENST00000366501.1_Intron|ZNF669_ENST00000358785.4_Splice_Site_p.V129_splice|ZNF669_ENST00000366500.1_Splice_Site_p.V43_splice|ZNF669_ENST00000448299.2_Splice_Site_p.V43_splice NM_024804.2 NP_079080.2 Q96BR6 ZN669_HUMAN zinc finger protein 669 129 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V129V(1) breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6) 17 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) CATTCTTACCTACAGAAGCCA 0.408000 62 65 0 0 0.048971 0 0 TDRD5 163589 broad.mit.edu 37 1 179631407 179631407 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:179631407G>C ENST00000444136.1 + 15 2741 c.2491G>C c.(2491-2493)Gaa>Caa p.E831Q TDRD5_ENST00000294848.8_Missense_Mutation_p.E777Q|TDRD5_ENST00000367614.1_Missense_Mutation_p.E777Q NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 819 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding p.E777Q(1) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 ATCATGTAAAGAAATGCCACA 0.473000 3 92 0 0 0.004672 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68112721 68112721 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:68112721G>A ENST00000262215.3 - 38 5684 c.5295C>T c.(5293-5295)ttC>ttT p.F1765F ARFGEF1_ENST00000520381.1_Silent_p.F1219F|ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000518230.1_Silent_p.F603F NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1765 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding p.F1765F(1) breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TTAGAGTGAGGAAGTAACTTA 0.378000 5 173 0 0 0.014758 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72036255 72036255 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:72036255C>T ENST00000378743.3 - 6 1946 c.1588G>A c.(1588-1590)Gaa>Aaa p.E530K NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 530 RNA processing intracellular metal ion binding p.E530K(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ATAGCAACTTCTTCATAGTTA 0.368000 40 113 0 0 0.092188 0 0 ZNF16 7564 broad.mit.edu 37 8 146156370 146156370 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:146156370G>A ENST00000276816.4 - 4 1989 c.1803C>T c.(1801-1803)taC>taT p.Y601Y ZNF16_ENST00000394909.2_Silent_p.Y601Y NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 601 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y601Y(1) breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) CAACACAGGTGTAGGGTTTTT 0.498000 34 82 0 0 0.086207 0 0 SPTA1 6708 broad.mit.edu 37 1 158584068 158584068 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:158584068G>A ENST00000368148.3 - 49 6997 c.6817C>T c.(6817-6819)Cta>Tta p.L2273L SPTA1_ENST00000368147.3_Silent_p.L2270L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2273 EF-hand 1. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.L2273L(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AATTCCTTTAGAGTCTCTTCA 0.328000 13 72 0 0 0.024245 0 0 FRS3 10817 broad.mit.edu 37 6 41743230 41743230 + Silent SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:41743230G>T ENST00000373018.3 - 4 431 c.180C>A c.(178-180)ctC>ctA p.L60L FRS3_ENST00000259748.2_Silent_p.L60L NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 60 IRS-type PTB. fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding p.L60L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCCGCAAGCAGAGATAAGGCC 0.632000 6 38 0.000157383 0.000164148 0.038147 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125685831 125685831 + Missense_Mutation SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:125685831G>T ENST00000371126.1 - 1 1003 c.761C>A c.(760-762)cCc>cAc p.P254H NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 254 p.P254H(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 GATGGCCCTGGGGATGGCCTC 0.632000 11 36 6.42651e-13 7.42619e-13 0.080935 1 0 KCNK6 9424 broad.mit.edu 37 19 38817502 38817502 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:38817502G>A ENST00000263372.3 + 2 699 c.592G>A c.(592-594)Gcc>Acc p.A198T NM_004823.1 NP_004814.1 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 198 voltage-gated potassium channel complex inward rectifier potassium channel activity p.A198T(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3) 17 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) CCTCGAGGAGGCCTGGAGCTT 0.657000 71 357 0 0 0.048971 0 0 WDR90 197335 broad.mit.edu 37 16 708613 708613 + Missense_Mutation SNP A A G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr16:708613A>G ENST00000549091.1 + 23 2947 c.2855A>G c.(2854-2856)aAg>aGg p.K952R WDR90_ENST00000293879.4_Missense_Mutation_p.K952R NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 952 p.K952R(1) endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CGGACCATCAAGGTGTGGGAC 0.682000 27 40 0 0 0.059317 0 0 TNR 7143 broad.mit.edu 37 1 175360440 175360440 + Silent SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:175360440C>A ENST00000367674.1 - 7 2199 c.1491G>T c.(1489-1491)tcG>tcT p.S497S TNR_ENST00000263525.2_Silent_p.S497S NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 497 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.S497S(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AGACGCTGGCCGAGGTAGGGG 0.547000 45 76 7.89702e-26 9.77726e-26 0.048971 1 0 TARS2 80222 broad.mit.edu 37 1 150464139 150464139 + Splice_Site SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:150464139G>A ENST00000369064.3 + 6 729 c.e6+1 TARS2_ENST00000463555.1_Splice_Site|TARS2_ENST00000606933.1_Splice_Site|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000438568.2_Splice_Site NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity p.?(1) cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CAGTATATGGGTAAGAGTTGT 0.418000 51 237 0 0 0.048971 0 0 EHD3 30845 broad.mit.edu 37 2 31489172 31489172 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:31489172C>T ENST00000322054.5 + 6 1495 c.1210C>T c.(1210-1212)Cgg>Tgg p.R404W EHD3_ENST00000541626.1_3'UTR NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 404 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding p.R404W(2) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) GGAGTCACAGCGGCCCATCCA 0.627000 13 58 0 0 0.105934 0 0 COL6A3 1293 broad.mit.edu 37 2 238249550 238249550 + Missense_Mutation SNP G G A rs142851023 byFrequency TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:238249550G>A ENST00000295550.4 - 38 8461 c.8009C>T c.(8008-8010)gCg>gTg p.A2670V COL6A3_ENST00000353578.4_Missense_Mutation_p.A2464V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2063V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2469V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2464V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2470V NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2670 Nonhelical region.|VWFA 12. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.A2670V(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTCAGAGGGCGCGTGCTGCAC 0.567000 34 61 0 0 0.050027 0 0 SNHG14 104472715 broad.mit.edu 37 15 25415905 25415905 + RNA SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr15:25415905G>A ENST00000549301.1 + 0 327 SNHG14_ENST00000553149.1_RNA|SNORD115-1_ENST00000364961.1_RNA ATCCTGAAGAGAGGTGATGAC 0.542000 33 273 0 0 0.064281 0 0 CCDC174 51244 broad.mit.edu 37 3 14712462 14712462 + Missense_Mutation SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr3:14712462G>C ENST00000383794.3 + 11 1238 c.1165G>C c.(1165-1167)Gag>Cag p.E389Q CCDC174_ENST00000476763.1_3'UTR|CCDC174_ENST00000303688.7_Missense_Mutation_p.E313Q NM_016474.4 NP_057558.3 coiled-coil domain containing 174 p.E389Q(1) GAGAGATCCTGAGTTTGCCCC 0.488000 10 49 0 0 0.069234 0 0 KIAA1429 25962 broad.mit.edu 37 8 95521993 95521993 + Missense_Mutation SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:95521993G>A ENST00000297591.5 - 15 3877 c.3802C>T c.(3802-3804)Cgg>Tgg p.R1268W KIAA1429_ENST00000437199.1_Missense_Mutation_p.R1268W|KIAA1429_ENST00000523405.1_5'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1268 mRNA processing|RNA splicing nucleus p.R1268W(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CCAGGAGACCGCACCAAAGCT 0.353000 5 97 0 0 0.014758 0 0 SART1 9092 broad.mit.edu 37 11 65732040 65732040 + Splice_Site SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:65732040G>C ENST00000312397.5 + 3 518 c.427_splice c.e3+1 p.K142_splice SART1_ENST00000528573.1_3'UTR NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells 142 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol p.K142N(1) endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCATCAAGAAGGGTGAGTATG 0.507000 23 115 0 0 0.069288 0 0 GPC6 10082 broad.mit.edu 37 13 94482698 94482698 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr13:94482698C>A ENST00000377047.4 + 3 1226 c.611C>A c.(610-612)cCc>cAc p.P204H GPC6-AS2_ENST00000445540.1_RNA NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 204 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.P204H(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GGAGACGTGCCCCGGAAACTG 0.512000 9 36 2.17888e-05 2.29887e-05 0.058154 1 0 ZNF514 84874 broad.mit.edu 37 2 95815560 95815560 + Silent SNP G G T rs144989588 TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:95815560G>T ENST00000295208.2 - 5 1132 c.670C>A c.(670-672)Cga>Aga p.R224R ZNF514_ENST00000411425.1_Silent_p.R224R NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 224 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R224R(1) large_intestine(4)|lung(6)|urinary_tract(1) 11 GTGTGACATCGCTGATGGCGC 0.433000 4 310 0.014758 0.0150896 0.014758 1 0 SRSF6 6431 broad.mit.edu 37 20 42088436 42088436 + Silent SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:42088436G>C ENST00000244020.3 + 3 388 c.282G>C c.(280-282)cgG>cgC p.R94R NM_006275.5 NP_006266.2 Q13247 SRSF6_HUMAN serine/arginine-rich splicing factor 6 94 mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding p.R94R(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2) 5 ACAGCAGTCGGAGAACATCTG 0.403000 7 237 0 0 0.038147 0 0 TC2N 123036 broad.mit.edu 37 14 92249555 92249555 + Splice_Site SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:92249555C>T ENST00000435962.2 - 12 1686 c.e12-1 TC2N_ENST00000360594.5_Splice_Site|TC2N_ENST00000556018.1_Splice_Site|TC2N_ENST00000340892.5_Splice_Site NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear nucleus p.?(2) breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) TTATCCAAATCTGTAAAGGAA 0.323000 4 61 0 0 0.009096 0 0 LPHN2 23266 broad.mit.edu 37 1 82409320 82409320 + Missense_Mutation SNP T T G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:82409320T>G ENST00000370728.1 + 8 1710 c.1065T>G c.(1063-1065)gaT>gaG p.D355E LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.D355E|LPHN2_ENST00000370725.1_Missense_Mutation_p.D355E|LPHN2_ENST00000319517.6_Missense_Mutation_p.D355E|LPHN2_ENST00000271029.4_Missense_Mutation_p.D355E|LPHN2_ENST00000370715.1_Missense_Mutation_p.D355E|LPHN2_ENST00000359929.3_Missense_Mutation_p.D355E|LPHN2_ENST00000370713.1_Missense_Mutation_p.D355E|LPHN2_ENST00000370730.1_Missense_Mutation_p.D355E|LPHN2_ENST00000370723.1_Missense_Mutation_p.D355E|LPHN2_ENST00000370717.2_Missense_Mutation_p.D355E|LPHN2_ENST00000370721.1_Missense_Mutation_p.D359E|LPHN2_ENST00000335786.5_Missense_Mutation_p.D355E|LPHN2_ENST00000370727.1_Missense_Mutation_p.D355E O95490 LPHN2_HUMAN latrophilin 2 355 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.D355E(2) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AATATGTAGATGTTCCCTTCC 0.358000 23 113 0 0 0.083992 0 0 CEP72 55722 broad.mit.edu 37 5 639206 639206 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr5:639206G>A ENST00000264935.5 + 8 1299 c.1209G>A c.(1207-1209)ccG>ccA p.P403P CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 403 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol p.P403P(1) autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) CATCACAGCCGTCTCCCGGGT 0.652000 14 94 0 0 0.105934 0 0 ST6GALNAC2 10610 broad.mit.edu 37 17 74570505 74570505 + Silent SNP G G C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:74570505G>C ENST00000225276.5 - 3 622 c.303C>G c.(301-303)ctC>ctG p.L101L ST6GALNAC2_ENST00000586520.1_5'UTR NM_006456.2 NP_006447.2 Q9UJ37 SIA7B_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 101 protein glycosylation integral to Golgi membrane sialyltransferase activity p.L101L(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 11 GGCGGTCCCAGAGCGCTGGGG 0.637000 16 61 0 0 0.033300 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204228702 204228702 + Nonsense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr1:204228702C>A ENST00000272203.3 - 8 1007 c.691G>T c.(691-693)Gag>Tag p.E231* PLEKHA6_ENST00000414478.1_Nonsense_Mutation_p.E251* NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 231 Pro-rich. p.E231L(1) breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) ACCGGAGGCTCTTTCTTGACT 0.652000 22 114 1.36565e-18 1.64058e-18 0.076483 1 0 LENG1 79165 broad.mit.edu 37 19 54663367 54663367 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr19:54663367C>T ENST00000222224.3 - 1 253 c.67G>A c.(67-69)Gac>Aac p.D23N NM_024316.1 NP_077292.1 Q96BZ8 LENG1_HUMAN leukocyte receptor cluster (LRC) member 1 23 p.D23N(1) breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1) 8 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TGGGCCTCGTCACGCCGCACG 0.677000 6 10 0 0 0.029380 0 0 NLRP10 338322 broad.mit.edu 37 11 7982784 7982784 + Silent SNP G G T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:7982784G>T ENST00000328600.2 - 2 536 c.375C>A c.(373-375)ctC>ctA p.L125L NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 125 ATP binding p.L126V(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGGCCACCAGGAGCACCTGGT 0.547000 13 96 2.32078e-09 2.5599e-09 0.024245 1 0 ASPRV1 151516 broad.mit.edu 37 2 70188284 70188284 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:70188284G>A ENST00000320256.4 - 1 1113 c.537C>T c.(535-537)ccC>ccT p.P179P NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 179 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity p.P179P(1) endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 GCAGGTGGCTGGGGGCAGCCC 0.587000 3 90 0 0 0.021553 0 0 PKD1 5310 broad.mit.edu 37 16 2155892 2155892 + Silent SNP A A G rs149467954 by1000genomes TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr16:2155892A>G ENST00000262304.4 - 20 8045 c.7837T>C c.(7837-7839)Ttg>Ctg p.L2613L PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.L2613L NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2613 REJ. Missing (in ADPKD1; could be a polymorphism). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding p.L2613L(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 ACCAGGGCCAACGAGTACTCG 0.657000 3 65 0 0 0.004672 0 0 OR1A1 8383 broad.mit.edu 37 17 3119530 3119530 + Missense_Mutation SNP T T G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:3119530T>G ENST00000304094.1 + 1 616 c.616T>G c.(616-618)Ttc>Gtc p.F206V NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F206V(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 GGTTGGCATTTTCTCTGTGCC 0.478000 57 170 0 0 0.048971 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19501350 19501350 + Silent SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr12:19501350C>G ENST00000538714.1 + 21 2596 c.2592C>G c.(2590-2592)ctC>ctG p.L864L PLEKHA5_ENST00000429027.2_Silent_p.L972L|PLEKHA5_ENST00000543806.1_Silent_p.L788L|PLEKHA5_ENST00000299275.6_Silent_p.L806L|PLEKHA5_ENST00000355397.3_Silent_p.L864L|PLEKHA5_ENST00000539256.1_Silent_p.L564L|PLEKHA5_ENST00000317589.4_Silent_p.L869L|PLEKHA5_ENST00000424268.1_Silent_p.L795L|PLEKHA5_ENST00000359180.3_Intron NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 806 1-phosphatidylinositol binding|protein binding p.L967L(1)|p.L806L(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ATTATAGACTCTACAAGAGTG 0.338000 3 122 0 0 0.004672 0 0 ENGASE 64772 broad.mit.edu 37 17 77073539 77073539 + Silent SNP C C G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:77073539C>G ENST00000579016.1 + 2 174 c.174C>G c.(172-174)gtC>gtG p.V58V ENGASE_ENST00000539857.2_5'UTR NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 58 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity p.V58V(1) breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 AAGAGACAGTCTTTCGAGAGG 0.463000 18 78 0 0 0.043863 0 0 TC2N 123036 broad.mit.edu 37 14 92249542 92249542 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:92249542C>T ENST00000435962.2 - 12 1698 c.1375G>A c.(1375-1377)Gaa>Aaa p.E459K TC2N_ENST00000360594.5_Missense_Mutation_p.E459K|TC2N_ENST00000556018.1_Missense_Mutation_p.E395K|TC2N_ENST00000340892.5_Missense_Mutation_p.E459K NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 459 nucleus p.E395K(1)|p.E459K(1) breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) TTACTGTCTTCACTTATCCAA 0.328000 5 75 0 0 0.014758 0 0 ITIH2 3698 broad.mit.edu 37 10 7755192 7755192 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:7755192G>A ENST00000358415.4 + 5 577 c.411G>A c.(409-411)gtG>gtA p.V137V ITIH2_ENST00000379587.4_Silent_p.V126V|ITIH2_ENST00000480387.1_3'UTR NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 137 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.V137V(1) NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 AGAAAACTGTGGGCCGAGCTC 0.478000 27 80 0 0 0.030593 0 0 PXDN 7837 broad.mit.edu 37 2 1652006 1652006 + Silent SNP T T A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:1652006T>A ENST00000252804.4 - 17 3596 c.3546A>T c.(3544-3546)gcA>gcT p.A1182A NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1182 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity p.A1182A(1) breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CGAACGTGTGTGCCGCCGATA 0.572000 40 142 0 0 0.048971 0 0 SLC17A2 10246 broad.mit.edu 37 6 25917311 25917311 + Silent SNP G G A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr6:25917311G>A ENST00000377850.3 - 7 1178 c.654C>T c.(652-654)agC>agT p.S218S SLC17A2_ENST00000265425.3_Silent_p.S218S|SLC17A2_ENST00000360488.3_Silent_p.S218S O00624 NPT3_HUMAN solute carrier family 17, member 2 218 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.S218S(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 CACAGCCAGTGCTACCTGGGA 0.463000 8 99 0 0 0.080935 0 0 snoU13 0 broad.mit.edu 37 2 148081572 148081572 + RNA DEL T T - TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr2:148081572delT ENST00000458959.1 + 0 34 gatgattgggttttcacaaga 0.353 2 4 --- --- --- --- ANK2 287 broad.mit.edu 37 4 114278661 114278661 + Frame_Shift_Del DEL A A - TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr4:114278661delA ENST00000357077.4 + 38 8940 c.8887delA c.(8887-8889)ccfs p.T2963fs ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Frame_Shift_Del_p.T2930fs|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2930 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GTATTCTGTTACCATCACATC 0.398 39 251 --- --- --- --- PHTF2 57157 broad.mit.edu 37 7 77538221 77538221 + Frame_Shift_Del DEL T T - TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr7:77538221delT ENST00000416283.2 + 6 581 c.455delT c.(454-456)atfs p.I152fs PHTF2_ENST00000422959.2_Frame_Shift_Del_p.I152fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.I148fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.I148fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.I148fs|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.I186fs|PHTF2_ENST00000450574.1_Frame_Shift_Del_p.I152fs|PHTF2_ENST00000415251.2_Frame_Shift_Del_p.I148fs NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 CATTGCCAGATTGTTTCCACA 0.423 53 70 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48744402 48744402 + Frame_Shift_Del DEL T T - TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr8:48744402delT ENST00000314191.2 - 61 8291 c.8235delA c.(8233-8235)aafs p.K2745fs PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.K2745fs NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2746 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CAGCAACGCCTTTTCTGGCAT 0.507 Non-homologous end-joining 7 704 --- --- --- --- HECTD2 143279 broad.mit.edu 37 10 93238018 93238018 + Frame_Shift_Del DEL A A - TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr10:93238018delA ENST00000446394.1 + 6 761 c.661delA c.(661-663)aafs p.K221fs HECTD2_ENST00000298068.5_Frame_Shift_Del_p.K221fs|HECTD2_ENST00000536715.1_5'UTR Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 221 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 ACGAGAATGGAAAGGGTAAAC 0.323 14 61 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46799028 46799029 + Frame_Shift_Ins INS - - T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr11:46799028_46799029insT ENST00000529230.1 - 23 2868_2869 c.2822_2823insA c.(2821-2823)attfs p.I941fs CKAP5_ENST00000354558.3_Frame_Shift_Ins_p.I941fs|CKAP5_ENST00000312055.5_Frame_Shift_Ins_p.I941fs|CKAP5_ENST00000415402.1_Frame_Shift_Ins_p.I941fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 941 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 GGATGCCTAAATTTTTTACATG 0.431 22 53 --- --- --- --- OR4K15 81127 broad.mit.edu 37 14 20444056 20444057 + Frame_Shift_Ins INS - - C TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:20444056_20444057insC ENST00000305051.5 + 1 454_455 c.379_380insC c.(379-381)tgtfs p.C127fs NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) CCAGATTTTCTTTGTTCATCTC 0.446 45 167 --- --- --- --- OR4E2 26686 broad.mit.edu 37 14 22134212 22134213 + Frame_Shift_Ins INS - - T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:22134212_22134213insT ENST00000408935.1 + 1 916_917 c.916_917insT c.(916-918)tttfs p.F306fs NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) GCAGAGACAAGTTTTTTTCACG 0.406 8 58 --- --- --- --- YY1 7528 broad.mit.edu 37 14 100705788 100705790 + In_Frame_Del DEL CCA CCA - rs76675246 TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr14:100705788_100705790delCCA ENST00000262238.4 + 1 467_469 c.207_209delCCA c.(205-210)ggc>gg p.GH69del NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 69 Gly-rich. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) gGCACGCCGGccaccaccaccac 0.724 7 9 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34077194 34077197 + Frame_Shift_Del DEL CCTC CCTC - TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr17:34077194_34077197delCCTC ENST00000254466.6 - 2 553_556 c.526_529delGAGG c.(526-531)agfs p.EE176fs GAS2L2_ENST00000587565.1_Frame_Shift_Del_p.EE176fs NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 176 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CGCACCTCCTCCTCGATCTCCTCC 0.711 57 233 --- --- --- --- APCDD1L-AS1 149773 broad.mit.edu 37 20 57159887 57159888 + RNA INS - - CTTC rs142796198 by1000genomes TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chr20:57159887_57159888insCTTC ENST00000427140.1 + 0 943 NR_034147.1 ctcccttctttcttccttcctt 0.535 2 4 --- --- --- --- TBX22 50945 broad.mit.edu 37 X 79283520 79283520 + Frame_Shift_Del DEL C C - TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:79283520delC ENST00000442340.1 + 8 1024 c.534delC c.(532-534)tafs p.Y178fs TBX22_ENST00000373296.3_Frame_Shift_Del_p.Y298fs|TBX22_ENST00000373291.1_Frame_Shift_Del_p.Y178fs|TBX22_ENST00000373294.5_Frame_Shift_Del_p.Y298fs NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 298 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TAGAGACCTACCCATGGAGGC 0.353 35 63 --- --- --- --- ARMCX3 51566 broad.mit.edu 37 X 100880152 100880154 + In_Frame_Del DEL TGA TGA - TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6f382d4-a522-4333-88b5-be7f55fe80f5 1696eddb-18d5-4d86-a7ee-f388add3e3ba g.chrX:100880152_100880154delTGA ENST00000341189.4 + 5 1049_1051 c.183_185delTGA c.(181-186)tct>tc p.SD61del ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 61 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 ATGACTGGTCTGATGATGATGAT 0.517 7 198 --- --- --- ---