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 PSD2 84249 broad.mit.edu 37 5 139193816 139193816 + Silent SNP T T C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:139193816T>C ENST00000274710.3 + 4 1088 c.883T>C c.(883-885)Ttg>Ctg p.L295L NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 295 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCGGAGGGGTTGGAGCCTGG 0.627000 25 95 0 0 0.693898 0 0 NLRX1 79671 broad.mit.edu 37 11 119044377 119044377 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:119044377G>A ENST00000409109.1 + 5 1006 c.419G>A c.(418-420)gGg>gAg p.G140E NLRX1_ENST00000525863.1_Missense_Mutation_p.G140E|NLRX1_ENST00000409991.1_Missense_Mutation_p.G140E|NLRX1_ENST00000292199.2_Missense_Mutation_p.G140E|NLRX1_ENST00000409265.4_Missense_Mutation_p.G140E Q86UT6 NLRX1_HUMAN NLR family member X1 140 Required for interaction with MAVS. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CCCCAGGCCGGGCTCCCCCCA 0.657000 13 37 0 0 0.411799 0 0 TTN 7273 broad.mit.edu 37 2 179439831 179439831 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:179439831C>T ENST00000589042.1 - 326 71252 c.71028G>A c.(71026-71028)caG>caA p.Q23676Q TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.Q14736Q|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.Q22035Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.Q21108Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.Q14611Q|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.Q14803Q|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22035 Fibronectin type-III 72. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTCTGTGTCTGTTTAAGAA 0.418000 11 9 0 0 0.387290 0 0 SPATA21 374955 broad.mit.edu 37 1 16736383 16736383 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:16736383C>T ENST00000335496.1 - 6 782 c.300G>A c.(298-300)cgG>cgA p.R100R SPATA21_ENST00000540400.1_Silent_p.R77R|SPATA21_ENST00000466212.1_5'UTR NM_198546.1 NP_940948.1 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 100 calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) TCGAGGCTCTCCGATGGGAGG 0.662000 20 29 0 0 0.624587 0 0 C12orf56 115749 broad.mit.edu 37 12 64679829 64679829 + Silent SNP A A T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:64679829A>T ENST00000543942.2 - 7 1751 c.1125T>A c.(1123-1125)ctT>ctA p.L375L C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Silent_p.L215L NM_001170633.1 NP_001164104.1 Q8IXR9 CL056_HUMAN chromosome 12 open reading frame 56 378 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1) 15 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) TGAAATAGAAAAGGTCACTGG 0.348000 9 17 0 0 0.361761 0 0 PFDN4 5203 broad.mit.edu 37 20 52835653 52835653 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:52835653C>T ENST00000371419.2 + 4 623 c.369C>T c.(367-369)ttC>ttT p.F123F PFDN4_ENST00000487129.1_3'UTR NM_002623.3 NP_002614.2 Q9NQP4 PFD4_HUMAN prefoldin subunit 4 123 'de novo' posttranslational protein folding prefoldin complex chaperone binding|unfolded protein binding endometrium(1)|kidney(2) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206) ATGCAAAATTCGGGAGCAACA 0.294000 10 30 0 0 0.435327 0 0 MARCH11 441061 broad.mit.edu 37 5 16067799 16067799 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:16067799G>A ENST00000332432.8 - 4 1189 c.990C>T c.(988-990)atC>atT p.I330I NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 330 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 TGCTTTCTTCGATGTCTGTGG 0.473000 19 26 0 0 0.557998 0 0 SERPINA9 327657 broad.mit.edu 37 14 94935623 94935623 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:94935623C>T ENST00000337425.5 - 2 683 c.609G>A c.(607-609)ggG>ggA p.G203G SERPINA9_ENST00000380365.3_Silent_p.G185G|SERPINA9_ENST00000448305.2_Silent_p.G105G|SERPINA9_ENST00000298845.7_Silent_p.G103G|SERPINA9_ENST00000546329.1_Silent_p.G167G|SERPINA9_ENST00000424550.2_Silent_p.G54G NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 185 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) CTACAACCTTCCCTTGGGTCT 0.438000 53 142 0 0 0.870114 0 0 FAM120C 54954 broad.mit.edu 37 X 54159266 54159266 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:54159266C>T ENST00000375180.2 - 9 1977 c.1921G>A c.(1921-1923)Gat>Aat p.D641N FAM120C_ENST00000328235.4_Missense_Mutation_p.D641N NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 641 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 TTACACTCATCCTCAATACAT 0.428000 6 26 0 0 0.361761 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43944717 43944717 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:43944717C>T ENST00000389420.3 - 2 447 c.448G>A c.(448-450)Ggc>Agc p.G150S ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G150S NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 150 proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTCACCAGGCCTCCGCATAAG 0.612000 5 6 0 0 0.248553 0 0 CDH10 1008 broad.mit.edu 37 5 24488226 24488226 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:24488226C>T ENST00000264463.4 - 12 2420 c.1913G>A c.(1912-1914)cGa>cAa p.R638Q CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 638 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R638L(1)|p.R638Q(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) CTCTTTTTTTCGCTGTCTTTT 0.398000 HNSCC(23;0.051) 16 32 0 0 0.539581 0 0 LAMC2 3918 broad.mit.edu 37 1 183190096 183190096 + Splice_Site SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:183190096G>A ENST00000264144.4 + 5 705 c.640_splice c.e5+1 p.D214_splice LAMC2_ENST00000493293.1_Splice_Site_p.D214_splice NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 214 Laminin IV type A. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 CTTTCATCAAGGTAAAGCCTT 0.453000 11 38 0 0 0.457914 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 38 0 0 0.115264 0 0 OR51F1 256892 broad.mit.edu 37 11 4791061 4791061 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:4791061G>A ENST00000380383.1 - 1 107 c.108C>T c.(106-108)atC>atT p.I36I OR51F1_ENST00000343430.3_Silent_p.I29I|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 29 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) AAGGAATGGAGATCCAGACAT 0.458000 8 26 0 0 0.278610 0 0 TMEM105 284186 broad.mit.edu 37 17 79287643 79287643 + Silent SNP C C T rs140676006 byFrequency TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:79287643C>T ENST00000332900.1 - 3 747 c.198G>A c.(196-198)ggG>ggA p.G66G NM_178520.3 NP_848615.1 Q8N8V8 TM105_HUMAN transmembrane protein 105 66 integral to membrane NS(1)|large_intestine(3)|lung(1)|ovary(2) 7 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) CAGCACAGTCCCCCCAAGGAG 0.647000 42 41 0 0 0.853193 0 0 CYP3A7 1551 broad.mit.edu 37 7 99313390 99313390 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:99313390G>A ENST00000336374.2 - 7 663 c.661C>T c.(661-663)Ctc>Ttc p.L221F NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 221 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) CTTATTGAGAGAACGAATGGA 0.358000 31 149 0 0 0.769981 0 0 GABRG2 2566 broad.mit.edu 37 5 161495078 161495078 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:161495078G>A ENST00000356592.3 + 1 533 c.73G>A c.(73-75)Gtg>Atg p.V25M GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000414552.2_Missense_Mutation_p.V25M|GABRG2_ENST00000361925.4_Missense_Mutation_p.V25M NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 25 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GAAAATGACGGTGTGGATTCT 0.493000 17 51 0 0 0.639603 0 0 CD86 942 broad.mit.edu 37 3 121828152 121828152 + Nonsense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:121828152G>A ENST00000330540.2 + 5 860 c.744G>A c.(742-744)tgG>tgA p.W248* CD86_ENST00000393627.2_Nonsense_Mutation_p.W242*|CD86_ENST00000264468.5_Nonsense_Mutation_p.W35*|CD86_ENST00000469710.1_Nonsense_Mutation_p.W166*|CD86_ENST00000493101.1_Nonsense_Mutation_p.W136* NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 248 interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) ACATTCCTTGGATTACAGCTG 0.413000 27 56 0 0 0.706142 0 0 SYCP2L 221711 broad.mit.edu 37 6 10894137 10894137 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr6:10894137G>A ENST00000283141.6 + 3 412 c.116G>A c.(115-117)gGa>gAa p.G39E SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 39 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) CATGATAAAGGATTTCAGAAA 0.299000 8 28 0 0 0.278610 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367485.4_Silent_p.K617K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 4 135 0 0 0.184627 0 0 OR6C4 341418 broad.mit.edu 37 12 55945604 55945604 + Silent SNP C C T rs149076957 byFrequency TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:55945604C>T ENST00000394256.2 + 1 622 c.594C>T c.(592-594)atC>atT p.I198I RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 TGATGGTCATCCTCTTGGCCG 0.468000 34 57 0 0 0.847076 0 0 TACC2 10579 broad.mit.edu 37 10 123843501 123843501 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:123843501G>A ENST00000369005.1 + 4 1826 c.1486G>A c.(1486-1488)Gag>Aag p.E496K TACC2_ENST00000334433.3_Missense_Mutation_p.E496K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.E496K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.E496K|TACC2_ENST00000515603.1_Missense_Mutation_p.E496K NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 496 Pro-rich. microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ATCACCCCAGGAGAGGGGAGA 0.597000 48 57 0 0 0.870114 0 0 DDX60 55601 broad.mit.edu 37 4 169145470 169145470 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:169145470C>T ENST00000393743.3 - 35 5039 c.4748G>A c.(4747-4749)aGa>aAa p.R1583K NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1583 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AATTGCTACTCTTCCTTCCTT 0.373000 22 43 0 0 0.639603 0 0 OLAH 55301 broad.mit.edu 37 10 15103833 15103833 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:15103833G>A ENST00000378217.3 + 5 620 c.433G>A c.(433-435)Gat>Aat p.D145N OLAH_ENST00000378228.3_Missense_Mutation_p.D92N NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 92 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 AGTCATCCAGGATAAACCATT 0.388000 53 91 0 0 0.870114 0 0 CNGA2 1260 broad.mit.edu 37 X 150912051 150912051 + Missense_Mutation SNP T T A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:150912051T>A ENST00000329903.4 + 6 1109 c.1076T>A c.(1075-1077)aTt>aAt p.I359N NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 359 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GACTTCCTGATTGGCGTCCTC 0.512000 35 60 0 0 0.812448 0 0 TTN 7273 broad.mit.edu 37 2 179452036 179452036 + Missense_Mutation SNP T T A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:179452036T>A ENST00000589042.1 - 307 64126 c.63902A>T c.(63901-63903)tAt>tTt p.Y21301F TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y12361F|TTN_ENST00000591111.1_Missense_Mutation_p.Y19660F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y18733F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y12236F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y12428F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19660 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCCACGATATAATGTGTCAC 0.473000 13 13 0 0 0.411799 0 0 KCNJ8 3764 broad.mit.edu 37 12 21918683 21918683 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:21918683C>T ENST00000240662.2 - 3 1594 c.1249G>A c.(1249-1251)Gga>Aga p.G417R RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 417 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) TTTTGATTTCCTTCTGGAGTC 0.423000 65 94 0 0 0.870114 0 0 LHFPL1 340596 broad.mit.edu 37 X 111914491 111914491 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:111914491G>A ENST00000371968.3 - 2 367 c.128C>T c.(127-129)tCa>tTa p.S43L LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.S43L NM_178175.3 NP_835469.1 Q86WI0 LHPL1_HUMAN lipoma HMGIC fusion partner-like 1 43 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6) 13 TGTGCTGAATGACACTGGCTT 0.542000 86 140 0 0 0.870114 0 0 PIWIL4 143689 broad.mit.edu 37 11 94334973 94334973 + Missense_Mutation SNP T T A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:94334973T>A ENST00000299001.6 + 12 1604 c.1393T>A c.(1393-1395)Tct>Act p.S465T RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA NM_152431.2 NP_689644.2 Q7Z3Z4 PIWL4_HUMAN piwi-like RNA-mediated gene silencing 4 465 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TCAACCTGTGTCTGCTGCTGA 0.368000 32 144 0 0 0.827153 0 0 CASR 846 broad.mit.edu 37 3 121980746 121980746 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:121980746C>T ENST00000498619.1 + 4 1302 c.864C>T c.(862-864)atC>atT p.I288I CASR_ENST00000296154.5_Silent_p.I288I|CASR_ENST00000490131.1_Silent_p.I288I NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 288 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GGCGCAATATCACGGGCAAGA 0.572000 21 59 0 0 0.654019 0 0 COL4A6 1288 broad.mit.edu 37 X 107418946 107418946 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:107418946C>T ENST00000394872.2 - 29 3002 c.2771G>A c.(2770-2772)gGa>gAa p.G924E COL4A6_ENST00000545689.1_Missense_Mutation_p.G923E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G924E|COL4A6_ENST00000334504.7_Missense_Mutation_p.G923E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G923E Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 924 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TCCTGGAATTCCTTTTAATCC 0.473000 Alport syndrome with Diffuse Leiomyomatosis 7 41 0 0 0.278610 0 0 DSP 1832 broad.mit.edu 37 6 7578094 7578094 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr6:7578094C>T ENST00000379802.3 + 21 3301 c.2960C>T c.(2959-2961)tCc>tTc p.S987F DSP_ENST00000418664.2_Missense_Mutation_p.S987F NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 987 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ATGATTCAGTCCCCTTCTGGG 0.473000 51 82 0 0 0.870114 0 0 DSCAML1 57453 broad.mit.edu 37 11 117392057 117392057 + Missense_Mutation SNP A A T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:117392057A>T ENST00000321322.6 - 6 1182 c.1181T>A c.(1180-1182)cTc>cAc p.L394H DSCAML1_ENST00000527706.1_Missense_Mutation_p.L124H NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 334 Ig-like C2-type 4. 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 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) GGCACAGGAGAGGATGACCGT 0.632000 6 30 0 0 0.217242 0 0 NAV3 89795 broad.mit.edu 37 12 78400717 78400717 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:78400717G>A ENST00000397909.2 + 8 1572 c.1399G>A c.(1399-1401)Gaa>Aaa p.E467K NAV3_ENST00000266692.7_Missense_Mutation_p.E467K|NAV3_ENST00000228327.6_Missense_Mutation_p.E467K|NAV3_ENST00000536525.2_Missense_Mutation_p.E467K Q8IVL0 NAV3_HUMAN neuron navigator 3 467 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity 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 ACAGCCAAAGGAAAAAGAAGA 0.413000 HNSCC(70;0.22) 28 34 0 0 0.693898 0 0 CAPN11 11131 broad.mit.edu 37 6 44144323 44144323 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr6:44144323G>A ENST00000542245.1 + 10 1045 c.1007G>A c.(1006-1008)aGg>aAg p.R336K CAPN11_ENST00000398776.1_Missense_Mutation_p.R336K Q9UMQ6 CAN11_HUMAN calpain 11 336 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCCAGTGCCAGGGAGTGGGAA 0.617000 16 68 0 0 0.500413 0 0 TAF1L 138474 broad.mit.edu 37 9 32632446 32632446 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr9:32632446C>T ENST00000242310.4 - 1 3221 c.3132G>A c.(3130-3132)gtG>gtA p.V1044V NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1044 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CCACATCAATCACTTCCCAGC 0.483000 72 102 0 0 0.870114 0 0 C6 729 broad.mit.edu 37 5 41160461 41160461 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:41160461G>A ENST00000263413.3 - 11 1731 c.1467C>T c.(1465-1467)ccC>ccT p.P489P C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.P489P NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 489 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AGTCCACGATGGGGGCAAGCT 0.498000 28 49 0 0 0.750413 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995292 140995292 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:140995292G>A ENST00000285879.4 + 4 2388 c.2102G>A c.(2101-2103)gGa>gAa p.G701E MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 701 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CCTCTTGAGGGAGAGGACTCC 0.567000 HNSCC(15;0.026) 14 49 0 0 0.435327 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059401 152059401 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:152059401C>T ENST00000368806.1 - 3 821 c.757G>A c.(757-759)Gaa>Aaa p.E253K NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 253 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CCTTCCTGTTCTCCAAACTGG 0.453000 46 114 0 0 0.870114 0 0 BHMT 635 broad.mit.edu 37 5 78422036 78422036 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:78422036C>T ENST00000274353.5 + 6 900 c.793C>T c.(793-795)Cca>Tca p.P265S BHMT_ENST00000524080.1_Missense_Mutation_p.P112S|DMGDH_ENST00000520388.1_Intron NM_001713.2 NP_001704.2 Q93088 BHMT1_HUMAN betaine--homocysteine S-methyltransferase 265 Hcy-binding. protein methylation|regulation of homocysteine metabolic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2) 29 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) CATCGATCTCCCAGAATTCCC 0.443000 10 41 0 0 0.411799 0 0 CYP11B2 1585 broad.mit.edu 37 8 143996580 143996580 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:143996580C>T ENST00000323110.2 - 3 479 c.477G>A c.(475-477)ccG>ccA p.P159P NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 159 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CATCCACCATCGGGAGGAACC 0.632000 Familial Hyperaldosteronism type I 4 24 0 0 0.248553 0 0 WLS 79971 broad.mit.edu 37 1 68615937 68615937 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:68615937G>A ENST00000262348.4 - 6 1159 c.906C>T c.(904-906)atC>atT p.I302I WLS_ENST00000491811.1_5'UTR|WLS_ENST00000354777.2_Silent_p.I300I|WLS_ENST00000540432.1_Silent_p.I302I|WLS_ENST00000370976.3_Silent_p.I211I|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA NM_024911.6 NP_079187.3 Q5T9L3 WLS_HUMAN wntless Wnt ligand secretion mediator 302 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1) 20 TGCCCTGTCGGATGTCACCAA 0.512000 69 134 0 0 0.870114 0 0 CSMD3 114788 broad.mit.edu 37 8 114448956 114448956 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:114448956C>T ENST00000297405.5 - 1 372 c.128G>A c.(127-129)gGa>gAa p.G43E CSMD3_ENST00000455883.2_Missense_Mutation_p.G43E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G43E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 43 integral to membrane|plasma membrane p.G43V(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 AAACGTAAATCCACTTTTAAT 0.502000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 59 105 0 0 0.870114 0 0 INPP5D 3635 broad.mit.edu 37 2 234112893 234112893 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:234112893C>T ENST00000359570.5 + 28 3061 c.3061C>T c.(3061-3063)Ccc>Tcc p.1021_1021insS INPP5D_ENST00000450745.1_Missense_Mutation_p.785_785insS|INPP5D_ENST00000455936.2_Missense_Mutation_p.785_785insS Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 0 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TAAGCCTGCTCCCAGGAAGGA 0.637000 21 15 0 0 0.624587 0 0 OR7G1 125962 broad.mit.edu 37 19 9225634 9225634 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:9225634C>T ENST00000293614.1 - 1 805 c.806G>A c.(805-807)cGa>cAa p.R269Q OR7G1_ENST00000541538.1_Missense_Mutation_p.R269Q Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 AGCAGTAATTCGGGAAGACTC 0.458000 23 52 0 0 0.667858 0 0 KLK12 43849 broad.mit.edu 37 19 51535331 51535331 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:51535331G>A ENST00000525263.1 - 3 377 c.258C>T c.(256-258)atC>atT p.I86I KLK12_ENST00000250352.11_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Silent_p.I86I|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250351.4_Silent_p.I86I Q9UKR0 KLK12_HUMAN kallikrein-related peptidase 12 86 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) CGCTGTGCCGGATCTGCTCGG 0.711000 3 11 0 0 0.150653 0 0 OR51F1 256892 broad.mit.edu 37 11 4790656 4790656 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:4790656G>A ENST00000380383.1 - 1 512 c.513C>T c.(511-513)ctC>ctT p.L171L OR51F1_ENST00000343430.3_Silent_p.L164L|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 164 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) GAGGCTTAAGGAGCAAAAGTA 0.388000 17 72 0 0 0.557998 0 0 PARP15 165631 broad.mit.edu 37 3 122345787 122345787 + Nonsense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:122345787C>T ENST00000464300.2 + 9 1411 c.1345C>T c.(1345-1347)Caa>Taa p.Q449* PARP15_ENST00000310366.4_Nonsense_Mutation_p.Q215*|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000493645.1_Intron|PARP15_ENST00000465304.1_3'UTR NM_001113523.1 NP_001106995.1 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) TGTCATTTTTCAACCTGAGCT 0.368000 13 47 0 0 0.479597 0 0 DSCAML1 57453 broad.mit.edu 37 11 117392058 117392058 + Missense_Mutation SNP G G T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:117392058G>T ENST00000321322.6 - 6 1181 c.1180C>A c.(1180-1182)Ctc>Atc p.L394I DSCAML1_ENST00000527706.1_Missense_Mutation_p.L124I NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 334 Ig-like C2-type 4. 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 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) GCACAGGAGAGGATGACCGTG 0.632000 6 30 0.0215528 0.0216532 0.217242 1 0 VDAC3 7419 broad.mit.edu 37 8 42259390 42259390 + Silent SNP A A G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:42259390A>G ENST00000392935.3 + 7 554 c.411A>G c.(409-411)ccA>ccG p.P137P VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Silent_p.P137P|VDAC3_ENST00000022615.4_Silent_p.P136P NM_001135694.2|NM_005662.6 NP_001129166.1|NP_005653.3 Q9Y277 VDAC3_HUMAN voltage-dependent anion channel 3 136 adenine transport mitochondrial outer membrane|pore complex nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 7 all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024) Dihydroxyaluminium(DB01375) TTTCTGGACCAACCATCTATG 0.423000 33 123 0 0 0.827153 0 0 FAM135B 51059 broad.mit.edu 37 8 139165019 139165019 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:139165019C>T ENST00000395297.1 - 13 1869 c.1699G>A c.(1699-1701)Gaa>Aaa p.E567K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 567 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACCAGGGGTTCAGCTCTGGAG 0.498000 HNSCC(54;0.14) 20 57 0 0 0.575678 0 0 FCER1A 2205 broad.mit.edu 37 1 159275833 159275833 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:159275833C>T ENST00000368115.1 + 5 486 c.387C>T c.(385-387)ttC>ttT p.F129F FCER1A_ENST00000368114.1_Silent_p.F96F NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 129 Ig-like 2. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) AGCCCCTCTTCCTCAGGTGCC 0.458000 27 58 0 0 0.729181 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502202 90502202 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr9:90502202C>T ENST00000325643.5 + 4 2866 c.2800C>T c.(2800-2802)Ccg>Tcg p.P934S NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CCAGAGGCCCCCGAGAGGGTC 0.622000 19 66 0 0 0.575678 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19705809 19705809 + Splice_Site SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:19705809C>T ENST00000379697.3 - 7 726 c.577_splice c.e7-1 p.G193_splice SH3KBP1_ENST00000379698.4_Intron|SH3KBP1_ENST00000397821.3_Intron Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 173 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 GGTAGTCTTTCCTGACAGTGA 0.493000 27 127 0 0 0.760397 0 0 MROH2B 133558 broad.mit.edu 37 5 41005017 41005017 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:41005017C>T ENST00000399564.4 - 36 4320 c.3870G>A c.(3868-3870)atG>atA p.M1290I MROH2B_ENST00000506092.2_Missense_Mutation_p.M845I NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TTGGTTCCTTCATGAGCTGAA 0.488000 11 18 0 0 0.435327 0 0 IL31RA 133396 broad.mit.edu 37 5 55202081 55202081 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:55202081C>T ENST00000396834.1 + 11 1656 c.1160C>T c.(1159-1161)tCt>tTt p.S387F IL31RA_ENST00000359040.5_Missense_Mutation_p.S406F|IL31RA_ENST00000396836.2_Missense_Mutation_p.S406F|IL31RA_ENST00000297015.3_Missense_Mutation_p.S264F|IL31RA_ENST00000490985.1_Missense_Mutation_p.S264F|IL31RA_ENST00000447346.2_Missense_Mutation_p.S406F|IL31RA_ENST00000354961.4_Missense_Mutation_p.S387F NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 374 Fibronectin type-III 4. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) TCCTGGGAATCTGTGTCTCAG 0.512000 19 42 0 0 0.575678 0 0 TEKT2 27285 broad.mit.edu 37 1 36550626 36550626 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:36550626C>T ENST00000207457.3 + 2 231 c.104C>T c.(103-105)tCc>tTc p.S35F NM_014466.2 NP_055281.2 Q9UIF3 TEKT2_HUMAN tektin 2 (testicular) 35 cell projection organization|microtubule cytoskeleton organization actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CGAGATGCTTCCCATCAGATC 0.627000 23 45 0 0 0.639603 0 0 RPTN 126638 broad.mit.edu 37 1 152130351 152130351 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:152130351C>T ENST00000316073.3 - 2 79 c.15G>A c.(13-15)ctG>ctA p.L5L NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 5 S-100-like (By similarity). proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 GTATGCTATTCAGGAGTTGAG 0.443000 38 65 0 0 0.870114 0 0 ALG12 79087 broad.mit.edu 37 22 50303663 50303663 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr22:50303663G>A ENST00000330817.5 - 5 816 c.543C>T c.(541-543)atC>atT p.I181I NM_024105.3 NP_077010.1 Q9BV10 ALG12_HUMAN ALG12, alpha-1,6-mannosyltransferase 181 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3) 12 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) CCCTGAACACGATGATGGCGA 0.657000 9 17 0 0 0.361761 0 0 MRPL45 84311 broad.mit.edu 37 17 36478143 36478143 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:36478143C>T ENST00000312513.5 + 7 956 c.795C>T c.(793-795)atC>atT p.I265I NM_032351.4 NP_115727.4 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 265 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 13 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ATACCAAGATCGTTCCCCCAT 0.502000 OREG0024353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 27 0 0 0.859065 0 0 KLF1 10661 broad.mit.edu 37 19 12995729 12995729 + Silent SNP G G A rs144695155 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:12995729G>A ENST00000264834.4 - 3 1099 c.1059C>T c.(1057-1059)caC>caT p.H353H NM_006563.3 NP_006554.1 Q13351 KLF1_HUMAN Kruppel-like factor 1 (erythroid) 353 erythrocyte differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(3)|large_intestine(1)|skin(1) 5 Hepatocellular(1079;0.137) GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18) GCAAGGCCAGGTGGTCAGAGC 0.632000 22 57 0 0 0.667858 0 0 AK7 122481 broad.mit.edu 37 14 96944806 96944806 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:96944806C>T ENST00000267584.4 + 15 1604 c.1560C>T c.(1558-1560)ttC>ttT p.F520F NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 520 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity 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) CCCCAGAATTCGTTTGTGCAC 0.552000 37 103 0 0 0.853193 0 0 MUC3A 4584 broad.mit.edu 37 7 100552576 100552576 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:100552576C>T ENST00000319509.7 + 1 1327 c.1327C>T c.(1327-1329)Ccg>Tcg p.P443S mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CTCTACCATCCCGCTCACCAT 0.552000 38 280 0 0 0.870114 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129019833 129019833 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:129019833G>A ENST00000274487.4 + 18 2812 c.2667G>A c.(2665-2667)caG>caA p.Q889Q CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 889 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.Q889H(1) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TTCAGGATCAGAATTATGGTC 0.408000 30 86 0 0 0.812448 0 0 CD300LD 100131439 broad.mit.edu 37 17 72584882 72584882 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:72584882C>T ENST00000375352.1 - 2 227 c.147G>A c.(145-147)ttG>ttA p.L49L C17orf77_ENST00000392620.1_Intron NM_001115152.1 NP_001108624.1 Q6UXZ3 CLM4_HUMAN CD300 molecule-like family member d 49 Ig-like V-type. integral to membrane|plasma membrane receptor activity large_intestine(1)|lung(2)|prostate(1)|stomach(1) 5 ACCGCCACTTCAAGTAGGTCT 0.483000 76 61 0 0 0.870114 0 0 KCNA2 3737 broad.mit.edu 37 1 111146446 111146446 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:111146446G>A ENST00000485317.1 - 3 1632 c.959C>T c.(958-960)aCc>aTc p.T320I KCNA2_ENST00000316361.4_Missense_Mutation_p.T320I|KCNA2_ENST00000440270.1_Missense_Mutation_p.T320I|KCNA2_ENST00000369770.3_Intron P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 320 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) GGCTTTGAGGGTCTGACCTAG 0.483000 16 48 0 0 0.520397 0 0 PLCB1 23236 broad.mit.edu 37 20 8705358 8705358 + Missense_Mutation SNP A A T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:8705358A>T ENST00000378641.3 + 16 2112 c.1637A>T c.(1636-1638)tAt>tTt p.Y546F PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.Y546F|PLCB1_ENST00000338037.6_Missense_Mutation_p.Y546F NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 546 PI-PLC Y-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CTGGTGAACTATATTCAGCCA 0.363000 34 65 0 0 0.864702 0 0 IGFN1 91156 broad.mit.edu 37 1 201186506 201186506 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:201186506C>T ENST00000335211.4 + 17 9817 c.9687C>T c.(9685-9687)agC>agT p.S3229S IGFN1_ENST00000295591.8_Silent_p.S389S NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCCCCGGCAGCGCCCACATCC 0.662000 35 56 0 0 0.853193 0 0 LIN9 286826 broad.mit.edu 37 1 226421194 226421194 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:226421194C>T ENST00000328205.5 - 13 1869 c.1324G>A c.(1324-1326)Gat>Aat p.D442N LIN9_ENST00000481685.1_Missense_Mutation_p.D407N|LIN9_ENST00000366801.1_Missense_Mutation_p.D391N NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 homolog (C. elegans) 426 cell cycle|DNA replication nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) GTTGGCTGATCTGCAGGCTGG 0.473000 43 73 0 0 0.870114 0 0 IGHG1 3500 broad.mit.edu 37 14 106204074 106204074 + RNA SNP C C A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:106204074C>A ENST00000390548.2 - 0 1224 TCTGGGCGGCCCTGGACACCC 0.662000 15 34 6.31663e-08 6.39571e-08 0.479597 1 0 GRM3 2913 broad.mit.edu 37 7 86468162 86468162 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:86468162C>T ENST00000361669.2 + 4 2431 c.1332C>T c.(1330-1332)ttC>ttT p.F444F GRM3_ENST00000546348.1_Silent_p.F36F|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.F316F NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 444 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CAGCTCCATTCAACCCAAATA 0.358000 11 24 0 0 0.435327 0 0 SLC27A1 376497 broad.mit.edu 37 19 17611327 17611327 + Missense_Mutation SNP C C A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:17611327C>A ENST00000252595.7 + 9 1454 c.1357C>A c.(1357-1359)Cag>Aag p.Q453K CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.Q453K|SLC27A1_ENST00000598424.1_Missense_Mutation_p.Q274K|SLC27A1_ENST00000598848.1_3'UTR NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 453 Sufficient for oligomerization (By similarity). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 CCTTGTGGGTCAGATCAACCA 0.657000 5 12 0.014758 0.0148498 0.184627 1 0 ACAD10 80724 broad.mit.edu 37 12 112184963 112184963 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:112184963C>T ENST00000455480.2 + 16 2637 c.2460C>T c.(2458-2460)cgC>cgT p.R820R ACAD10_ENST00000392636.2_Silent_p.R391R|ACAD10_ENST00000313698.4_Silent_p.R789R|ACAD10_ENST00000413681.3_3'UTR NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 789 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 GGAAAGCCCGCTCCTGTTTTG 0.642000 23 22 0 0 0.639603 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51958751 51958751 + Silent SNP C C A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:51958751C>A ENST00000321424.3 - 4 1038 c.972G>T c.(970-972)ggG>ggT p.G324G SIGLEC8_ENST00000340550.5_Silent_p.G231G|SIGLEC8_ENST00000430817.1_Silent_p.G215G NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 324 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AGGTGAATTCCCCTTCATCCC 0.647000 19 42 6.44725e-10 6.54846e-10 0.624587 1 0 DOPEY2 9980 broad.mit.edu 37 21 37620844 37620844 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr21:37620844C>T ENST00000399151.3 + 21 5061 c.4976C>T c.(4975-4977)tCc>tTc p.S1659F NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1659 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGATCCTCTTCCGTTTACTTT 0.433000 10 21 0 0 0.411799 0 0 MYH4 4622 broad.mit.edu 37 17 10357125 10357125 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:10357125G>A ENST00000255381.2 - 23 2879 c.2769C>T c.(2767-2769)atC>atT p.I923I CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 923 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTACCTCTTTGATTTTGGCCT 0.423000 134 126 0 0 0.870114 0 0 C12orf40 283461 broad.mit.edu 37 12 40114658 40114658 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:40114658G>A ENST00000324616.5 + 13 1718 c.1564G>A c.(1564-1566)Gaa>Aaa p.E522K NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 522 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 CAAAACCAAGGAAAAAATGAA 0.294000 16 76 0 0 0.592651 0 0 PDGFRA 5156 broad.mit.edu 37 4 55124954 55124954 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:55124954G>A ENST00000257290.5 + 2 350 c.19G>A c.(19-21)Gcg>Acg p.A7T PDGFRA_ENST00000508170.1_Missense_Mutation_p.A7T|FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 7 cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TTCCCATCCGGCGTTCCTGGT 0.473000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 30 90 0 0 0.819951 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8662151 8662151 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:8662151G>A ENST00000270328.4 - 6 1127 c.861C>T c.(859-861)ctC>ctT p.L287L ADAMTS10_ENST00000597188.1_Silent_p.L287L|ADAMTS10_ENST00000596709.1_5'UTR Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 287 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GGCGAGTTACGAGGATGTTAA 0.577000 16 28 0 0 0.557998 0 0 KDR 3791 broad.mit.edu 37 4 55948738 55948738 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:55948738G>A ENST00000263923.4 - 28 4022 c.3727C>T c.(3727-3729)Ccg>Tcg p.P1243S RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1243 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TCTTCTAACGGGATATCTTCA 0.338000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 26 102 0 0 0.750413 0 0 MROH7 374977 broad.mit.edu 37 1 55148437 55148437 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:55148437G>A ENST00000414150.2 + 14 2768 c.2490G>A c.(2488-2490)aaG>aaA p.K830K MROH7_ENST00000421030.2_Silent_p.K830K|MROH7_ENST00000395690.2_Silent_p.K830K|MROH7_ENST00000454855.2_Silent_p.K348K|MROH7_ENST00000409996.1_Silent_p.K398K|MROH7_ENST00000339553.5_Silent_p.K830K|MROH7_ENST00000545244.1_Silent_p.K398K maestro heat-like repeat family member 7 CCGTCACCAAGGAGGGCCGGG 0.627000 13 30 0 0 0.520397 0 0 SLC30A8 169026 broad.mit.edu 37 8 118170071 118170071 + Missense_Mutation SNP C C G rs141202988 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:118170071C>G ENST00000427715.2 + 7 847 c.413C>G c.(412-414)gCg>gGg p.A138G SLC30A8_ENST00000456015.2_Missense_Mutation_p.A187G|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A138G|SLC30A8_ENST00000519688.1_Missense_Mutation_p.A138G NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 187 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity p.A187V(1) breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TGCGCAGTGGCGGCCAACATT 0.517000 20 46 0 0 0.624587 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618540 77618540 + Missense_Mutation SNP T T A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:77618540T>A ENST00000521891.2 + 2 2665 c.2217T>A c.(2215-2217)ttT>ttA p.F739L ZFHX4_ENST00000518282.1_Missense_Mutation_p.F739L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.F739L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.F739L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 739 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGCAGGTGTTTGGCCACTCTG 0.532000 HNSCC(33;0.089) 6 26 0 0 0.217242 0 0 UGT2B15 7366 broad.mit.edu 37 4 69519864 69519864 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:69519864C>T ENST00000338206.5 - 5 1213 c.1204G>A c.(1204-1206)Gat>Aat p.D402N NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 402 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity GCAATGTTATCATGTTGATCC 0.453000 55 179 0 0 0.870114 0 0 RP1-241P17.4 0 broad.mit.edu 37 X 114953364 114953364 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:114953364G>A ENST00000449327.1 - 1 305 c.186C>T c.(184-186)ttC>ttT p.F62F GTTGCCCGTCGAATCGGAATC 0.443000 56 64 0 0 0.870114 0 0 ATP7B 540 broad.mit.edu 37 13 52531705 52531705 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr13:52531705G>A ENST00000242839.4 - 9 2550 c.2394C>T c.(2392-2394)ctC>ctT p.L798L ATP7B_ENST00000400366.3_Silent_p.L687L|ATP7B_ENST00000417240.2_Silent_p.L70L|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Silent_p.L636L|ATP7B_ENST00000418097.2_Silent_p.L798L|ATP7B_ENST00000448424.2_Silent_p.L720L NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 798 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CTGTGGCTTGGAGAGACATGA 0.443000 Wilson disease 25 66 0 0 0.729181 0 0 ZNF185 7739 broad.mit.edu 37 X 152106682 152106682 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:152106682G>A ENST00000535861.1 + 16 1327 c.1279G>A c.(1279-1281)Gag>Aag p.E427K ZNF185_ENST00000370268.4_Missense_Mutation_p.E395K|ZNF185_ENST00000318504.7_Missense_Mutation_p.E336K|ZNF185_ENST00000370270.1_Missense_Mutation_p.E158K|ZNF185_ENST00000539731.1_Missense_Mutation_p.E398K|ZNF185_ENST00000324823.6_Missense_Mutation_p.E163K|ZNF185_ENST00000318529.8_Missense_Mutation_p.E174K|ZNF185_ENST00000449285.2_Missense_Mutation_p.E396K NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 395 cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGCAGCCCAGGAGGATGCAAA 0.562000 4 6 0 0 0.217242 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79854997 79854997 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:79854997G>A ENST00000338682.3 - 5 1514 c.842C>T c.(841-843)aCc>aTc p.T281I NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 281 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) CAGCCCATTGGTTTTATAGGA 0.463000 28 55 0 0 0.750413 0 0 EPHA6 285220 broad.mit.edu 37 3 96962934 96962934 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:96962934C>T ENST00000389672.5 + 5 1447 c.1409C>T c.(1408-1410)aCc>aTc p.T470I EPHA6_ENST00000470610.2_Missense_Mutation_p.T470I NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 375 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GGCTTAGACACCAGCCAGTGT 0.468000 16 35 0 0 0.479597 0 0 DDIT4L 115265 broad.mit.edu 37 4 101109105 101109105 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:101109105C>T ENST00000273990.2 - 3 525 c.311G>A c.(310-312)cGa>cAa p.R104Q RP11-15B17.1_ENST00000515026.1_RNA NM_145244.3 NP_660287.1 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like 104 negative regulation of signal transduction cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2) 12 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) AACACAACCTCGCAAGCCGCA 0.458000 32 66 0 0 0.769981 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144952211 144952211 + Nonsense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:144952211G>A ENST00000369359.4 - 7 957 c.919C>T c.(919-921)Cag>Tag p.Q307* PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.Q170*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.Q170*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q170*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q236*|PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.Q307*|PDE4DIP_ENST00000369347.4_Nonsense_Mutation_p.Q170*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.Q170* Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 170 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTGTCCCTCTGGGCCAGGGCC 0.522000 T PDGFRB MPD 12 147 0 0 0.539581 0 0 OR5J2 282775 broad.mit.edu 37 11 55944293 55944293 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:55944293C>T ENST00000312298.1 + 1 200 c.200C>T c.(199-201)tCa>tTa p.S67L NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) AGCTGTCTTTCATTTGTGGAT 0.438000 57 109 0 0 0.870114 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967575 142967575 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:142967575G>A ENST00000370494.1 + 1 403 c.373G>A c.(373-375)Gat>Aat p.D125N NM_001012989.1 NP_001013007.1 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 125 acid-amino acid ligase activity breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) ATTAGCAAATGATGTAGTGGA 0.448000 59 122 0 0 0.870114 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377786 50377786 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:50377786C>T ENST00000376020.2 - 4 1312 c.1287G>A c.(1285-1287)agG>agA p.R429R SHROOM4_ENST00000289292.7_Silent_p.R429R|SHROOM4_ENST00000460112.3_Silent_p.R313R NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 429 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) CTTTGCTGCCCCTGGTATCAA 0.592000 8 30 0 0 0.335167 0 0 RAD54L2 23132 broad.mit.edu 37 3 51690122 51690122 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:51690122G>A ENST00000409535.1 + 19 3287 c.3162G>A c.(3160-3162)atG>atA p.M1054I RAD54L2_ENST00000296477.3_Missense_Mutation_p.M748I NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 1054 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) ATCCATCCATGAACTTTCCCA 0.577000 34 79 0 0 0.779181 0 0 NEK4 6787 broad.mit.edu 37 3 52794947 52794947 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:52794947G>A ENST00000233027.5 - 6 1029 c.827C>T c.(826-828)aCc>aTc p.T276I NEK4_ENST00000383721.4_Missense_Mutation_p.T276I|NEK4_ENST00000535191.1_Missense_Mutation_p.T187I NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 276 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) ATTTTTGGAGGTTTTTCTTTA 0.343000 16 57 0 0 0.575678 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51958750 51958750 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:51958750C>T ENST00000321424.3 - 4 1039 c.973G>A c.(973-975)Gaa>Aaa p.E325K SIGLEC8_ENST00000340550.5_Missense_Mutation_p.E232K|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.E216K NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 325 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGGTGAATTCCCCTTCATCC 0.647000 20 42 0 0 0.639603 0 0 TNR 7143 broad.mit.edu 37 1 175365861 175365861 + Silent SNP C C T rs141776089 byFrequency TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:175365861C>T ENST00000367674.1 - 5 1767 c.1059G>A c.(1057-1059)acG>acA p.T353T TNR_ENST00000263525.2_Silent_p.T353T NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 353 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix 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) TCACATATTCCGTCACTGCCA 0.617000 43 81 0 0 0.870114 0 0 LYNX1 66004 broad.mit.edu 37 8 143856634 143856634 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:143856634G>A ENST00000398906.1 - 4 686 c.302C>T c.(301-303)aCc>aTc p.T101I LYNX1_ENST00000335822.5_Intron|LYNX1_ENST00000523332.1_Intron|LYNX1_ENST00000345173.6_Missense_Mutation_p.T101I|LYNX1_ENST00000395192.2_Missense_Mutation_p.T101I NM_177477.2 NP_803430.1 Q86SR0 SLUR2_HUMAN Ly6/neurotoxin 1 12 extracellular region endometrium(1)|lung(2)|skin(1) 4 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CAGGGCCAGGGTGGCCGGGGT 0.632000 9 23 0 0 0.335167 0 0 GPR78 27201 broad.mit.edu 37 4 8588947 8588947 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:8588947C>T ENST00000382487.4 + 3 1366 c.949C>T c.(949-951)Ccg>Tcg p.P317S GPR78_ENST00000509216.1_3'UTR NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 317 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 GAAGAGAACCCCGCGCCCAGC 0.672000 33 47 0 0 0.796494 0 0 ANO4 121601 broad.mit.edu 37 12 101493479 101493479 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:101493479C>T ENST00000392979.3 + 21 2386 c.2025C>T c.(2023-2025)ttC>ttT p.F675F ANO4_ENST00000550015.1_Silent_p.F230F|ANO4_ENST00000392977.3_Silent_p.F710F|ANO4_ENST00000299222.9_Silent_p.F230F NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 710 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 ATGGACTCTTCGATGAATACT 0.333000 HNSCC(74;0.22) 30 46 0 0 0.827153 0 0 TAF1L 138474 broad.mit.edu 37 9 32633513 32633513 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr9:32633513C>T ENST00000242310.4 - 1 2154 c.2065G>A c.(2065-2067)Gat>Aat p.D689N RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 689 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CCTGTGAGATCCTGAGGTGTG 0.433000 34 45 0 0 0.827153 0 0 PRKG2 5593 broad.mit.edu 37 4 82096107 82096107 + Missense_Mutation SNP C C A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:82096107C>A ENST00000395578.1 - 3 584 c.468G>T c.(466-468)aaG>aaT p.K156N RP11-100N20.1_ENST00000505175.1_RNA|PRKG2_ENST00000264399.1_Missense_Mutation_p.K156N|PRKG2_ENST00000418486.2_Missense_Mutation_p.K156N|RP11-100N20.1_ENST00000512502.1_RNA Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 156 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 TAATGAGCTTCTTCTCACTGG 0.318000 31 68 9.65963e-10 9.7959e-10 0.779181 1 0 BRINP1 1620 broad.mit.edu 37 9 121929509 121929509 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr9:121929509C>T ENST00000265922.3 - 8 2600 c.2139G>A c.(2137-2139)ggG>ggA p.G713G DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 713 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GCTGGGGTTTCCCCGGGGCCA 0.552000 26 82 0 0 0.729181 0 0 TTN 7273 broad.mit.edu 37 2 179436952 179436952 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:179436952G>A ENST00000589042.1 - 326 74131 c.73907C>T c.(73906-73908)tCt>tTt p.S24636F TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S15696F|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S22995F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S22068F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15571F|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S15763F|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22995 Ig-like 122. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCTCCCAAGAGAGTGACAC 0.488000 23 19 0 0 0.717897 0 0 OR2J2 26707 broad.mit.edu 37 6 29142309 29142309 + Silent SNP A A G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr6:29142309A>G ENST00000377167.2 + 1 999 c.897A>G c.(895-897)aaA>aaG p.K299K NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 AGCATGTAAAAGGGGCAGCGA 0.438000 3 95 0 0 0.150653 0 0 THSD7B 80731 broad.mit.edu 37 2 138169397 138169397 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:138169397G>A ENST00000409968.1 + 14 3092 c.2914G>A c.(2914-2916)Gat>Aat p.D972N THSD7B_ENST00000413152.2_Missense_Mutation_p.D941N|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.D972N thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGCCTGTTCTGATAAAAATGG 0.532000 21 19 0 0 0.592651 0 0 FOXK2 3607 broad.mit.edu 37 17 80543973 80543973 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:80543973G>A ENST00000335255.5 + 7 1647 c.1473G>A c.(1471-1473)gcG>gcA p.A491A NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 491 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) TGGCCCCAGCGAACACGTACA 0.647000 32 21 0 0 0.819951 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56735006 56735006 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:56735006C>T ENST00000587340.1 - 5 1277 c.582G>A c.(580-582)agG>agA p.R194R ZSCAN5A_ENST00000592355.1_Silent_p.R194R|ZSCAN5A_ENST00000391713.1_Silent_p.R194R|ZSCAN5A_ENST00000254165.3_Silent_p.R77R|ZSCAN5A_ENST00000587492.1_Silent_p.R48R Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 194 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TCACCTGCCTCCTGGACAATG 0.612000 15 35 0 0 0.520397 0 0 PCLO 27445 broad.mit.edu 37 7 82578913 82578913 + Missense_Mutation SNP A A T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:82578913A>T ENST00000423517.2 - 6 11328 c.10991T>A c.(10990-10992)gTt>gAt p.V3664D PCLO_ENST00000333891.8_Missense_Mutation_p.V3664D|PCLO_ENST00000437081.1_Missense_Mutation_p.V384D NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3595 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGCTGGGGGAACTTTAGCCAT 0.478000 147 176 0 0 0.870114 0 0 SLC25A21 89874 broad.mit.edu 37 14 37203756 37203756 + Missense_Mutation SNP T T C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:37203756T>C ENST00000331299.5 - 4 741 c.226A>G c.(226-228)Att>Gtt p.I76V SLC25A21_ENST00000555449.1_Missense_Mutation_p.I76V NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 76 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) GGTGGCAGAATTCCCTTGTAA 0.398000 5 10 0 0 0.248553 0 0 CECR1 51816 broad.mit.edu 37 22 17663631 17663631 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr22:17663631C>T ENST00000399839.1 - 8 1372 c.1102G>A c.(1102-1104)Gac>Aac p.D368N CECR1_ENST00000262607.3_Missense_Mutation_p.D368N|CECR1_ENST00000449907.2_Missense_Mutation_p.D326N|CECR1_ENST00000330232.4_Missense_Mutation_p.D127N|CECR1_ENST00000399837.2_Missense_Mutation_p.D368N Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 368 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) ATGTTCCTGTCTATGGAAGTA 0.532000 24 40 0 0 0.693898 0 0 GLYATL1 92292 broad.mit.edu 37 11 58722338 58722338 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:58722338C>T ENST00000300079.5 + 5 425 c.375C>T c.(373-375)atC>atT p.I125I RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Silent_p.I94I NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 94 mitochondrion glycine N-acyltransferase activity p.I125I(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) ATTGTGAGATCGTAAACTGGA 0.393000 19 26 0 0 0.575678 0 0 GAS2 2620 broad.mit.edu 37 11 22777462 22777462 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:22777462G>A ENST00000454584.2 + 7 991 c.686G>A c.(685-687)gGa>gAa p.G229E GAS2_ENST00000278187.3_Missense_Mutation_p.G229E|GAS2_ENST00000433790.1_Missense_Mutation_p.G229E NM_001143830.1 NP_001137302.1 O43903 GAS2_HUMAN growth arrest-specific 2 229 GAR. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 CTCTCCCAAGGAAGATACCGA 0.408000 13 36 0 0 0.479597 0 0 CNTN6 27255 broad.mit.edu 37 3 1262427 1262427 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:1262427C>T ENST00000446702.2 + 3 739 c.112C>T c.(112-114)Cct>Tct p.P38S CNTN6_ENST00000350110.2_Missense_Mutation_p.P38S|CNTN6_ENST00000539053.1_5'UTR Q9UQ52 CNTN6_HUMAN contactin 6 38 Ig-like C2-type 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TGTCATTTTTCCTTTGGATTT 0.398000 34 63 0 0 0.812448 0 0 MKI67 4288 broad.mit.edu 37 10 129906685 129906685 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:129906685G>A ENST00000368654.3 - 13 3794 c.3419C>T c.(3418-3420)cCa>cTa p.P1140L MKI67_ENST00000368653.3_Missense_Mutation_p.P780L NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1140 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGTGCTTGTTGGAGTGTCCAC 0.468000 119 157 0 0 0.870114 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95726867 95726867 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:95726867G>A ENST00000324972.6 + 17 2093 c.1900G>A c.(1900-1902)Gat>Aat p.D634N DYNC1I1_ENST00000437599.1_Missense_Mutation_p.D614N|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.D617N|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.D617N|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.D597N NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 634 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TAACAGAGCTGATAGCGAGGA 0.512000 40 86 0 0 0.870114 0 0 ABCA4 24 broad.mit.edu 37 1 94528687 94528687 + Missense_Mutation SNP T T C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:94528687T>C ENST00000370225.3 - 12 1827 c.1741A>G c.(1741-1743)Acc>Gcc p.T581A ABCA4_ENST00000535735.1_Missense_Mutation_p.T581A NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 581 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) ATCTTATTGGTTTTCTCCACC 0.473000 87 175 0 0 0.870114 0 0 CLCNKA 1187 broad.mit.edu 37 1 16350376 16350376 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:16350376C>T ENST00000375692.1 + 4 310 c.182C>T c.(181-183)gCc>gTc p.A61V CLCNKA_ENST00000439316.2_Missense_Mutation_p.A61V|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A61V|CLCNKA_ENST00000331433.4_Missense_Mutation_p.A61V|CLCNKA_ENST00000464764.1_3'UTR P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 61 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) GTGCTCATGGCCCTGGTCAGC 0.602000 36 53 0 0 0.834066 0 0 SLC26A5 375611 broad.mit.edu 37 7 103038451 103038451 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:103038451C>T ENST00000306312.3 - 9 1160 c.899G>A c.(898-900)gGa>gAa p.G300E SLC26A5_ENST00000432958.2_Missense_Mutation_p.G300E|SLC26A5_ENST00000393735.2_Missense_Mutation_p.G300E|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000356767.4_Missense_Mutation_p.G300E|SLC26A5_ENST00000339444.6_Missense_Mutation_p.G300E|SLC26A5_ENST00000393730.1_Missense_Mutation_p.G300E|SLC26A5_ENST00000393729.1_Missense_Mutation_p.G263E|SLC26A5_ENST00000393727.1_Missense_Mutation_p.G300E|SLC26A5_ENST00000393723.1_Missense_Mutation_p.G300E NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 300 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 AATGCCAGTTCCCATTACGAC 0.363000 81 82 0 0 0.870114 0 0 C1orf173 127254 broad.mit.edu 37 1 75037752 75037752 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:75037752C>T ENST00000326665.5 - 14 3860 c.3642G>A c.(3640-3642)ggG>ggA p.G1214G C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1214 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTGCTAAGGCCCCCTCTCCAT 0.602000 17 66 0 0 0.520397 0 0 OR51A4 401666 broad.mit.edu 37 11 4968138 4968138 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:4968138G>A ENST00000380373.2 - 1 218 c.193C>T c.(193-195)Ctt>Ttt p.L65F MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AACATGGAAAGAAAATAGTAC 0.423000 20 58 0 0 0.639603 0 0 ADNP 23394 broad.mit.edu 37 20 49509288 49509288 + Missense_Mutation SNP G G T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:49509288G>T ENST00000396029.3 - 5 2530 c.1963C>A c.(1963-1965)Cca>Aca p.P655T ADNP_ENST00000396032.3_Missense_Mutation_p.P655T|ADNP_ENST00000371602.4_Missense_Mutation_p.P655T|ADNP_ENST00000349014.3_Missense_Mutation_p.P655T NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 655 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 TTCTCAACTGGATGAACCGTC 0.443000 42 114 9.58827e-17 9.80034e-17 0.870114 1 0 IL1RAPL2 26280 broad.mit.edu 37 X 104512186 104512186 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:104512186G>A ENST00000372582.1 + 5 1415 c.659G>A c.(658-660)gGa>gAa p.G220E IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G220E NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 220 Ig-like C2-type 2. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AAATATGAAGGAAAACTTGTA 0.333000 30 43 0 0 0.760397 0 0 CST6 1474 broad.mit.edu 37 11 65780320 65780320 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:65780320C>T ENST00000312134.2 + 2 468 c.264C>T c.(262-264)ttC>ttT p.F88F NM_001323.3 NP_001314.1 Q15828 CYTM_HUMAN cystatin E/M 88 anatomical structure morphogenesis extracellular region cysteine-type endopeptidase inhibitor activity large_intestine(1)|lung(1)|ovary(1) 3 TCAAGTACTTCCTGACGATGG 0.607000 20 77 0 0 0.654019 0 0 OR52D1 390066 broad.mit.edu 37 11 5510840 5510840 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:5510840G>A ENST00000322641.5 + 1 926 c.904G>A c.(904-906)Gag>Aag p.E302K HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAGAACCAAGGAGATTCGGAG 0.448000 9 49 0 0 0.335167 0 0 TPR 7175 broad.mit.edu 37 1 186302359 186302359 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:186302359G>A ENST00000367478.3 - 37 5646 c.5350C>T c.(5350-5352)Cct>Tct p.P1784S NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1784 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TCAATCTGAGGATGACTCTGT 0.438000 T NTRK1 papillary thyroid 32 99 0 0 0.804634 0 0 USP10 9100 broad.mit.edu 37 16 84808815 84808815 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:84808815C>T ENST00000219473.7 + 13 2306 c.2193C>T c.(2191-2193)acC>acT p.T731T USP10_ENST00000570191.1_Silent_p.T735T NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 731 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 GCCACCGAACCTATCGGCTCT 0.398000 23 42 0 0 0.729181 0 0 RBP5 83758 broad.mit.edu 37 12 7277224 7277224 + Splice_Site SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:7277224C>T ENST00000266560.3 - 3 521 c.e3+1 NM_031491.2 NP_113679.1 P82980 RET5_HUMAN retinol binding protein 5, cellular cytoplasm retinal binding|retinol binding|transporter activity autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1) 10 Vitamin A(DB00162) ACCCCATTTACCAGATACAGC 0.602000 67 135 0 0 0.870114 0 0 PRKG1 5592 broad.mit.edu 37 10 54048502 54048502 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:54048502C>T ENST00000373980.4 + 15 2143 c.1726C>T c.(1726-1728)Cca>Tca p.P576S PRKG1_ENST00000373975.2_Missense_Mutation_p.P279S|PRKG1_ENST00000373985.1_Missense_Mutation_p.P549S|PRKG1_ENST00000401604.2_Missense_Mutation_p.P561S|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 561 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TTTCTCAGGCCCAGATCCTAT 0.353000 33 43 0 0 0.840704 0 0 EFHB 151651 broad.mit.edu 37 3 19926043 19926043 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:19926043G>A ENST00000295824.9 - 11 2159 c.1998C>T c.(1996-1998)ctC>ctT p.L666L EFHB_ENST00000344838.4_Silent_p.L536L NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 666 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 CTGGCTTTATGAGGAGAGTTT 0.368000 10 76 0 0 0.435327 0 0 NPAP1 23742 broad.mit.edu 37 15 24922704 24922704 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:24922704C>T ENST00000329468.2 + 1 2164 c.1690C>T c.(1690-1692)Cac>Tac p.H564Y NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CGCATCTGCCCACCTAACCTC 0.483000 50 104 0 0 0.870114 0 0 TRIM13 10206 broad.mit.edu 37 13 50586298 50586298 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr13:50586298C>T ENST00000378182.3 + 2 960 c.222C>T c.(220-222)tcC>tcT p.S74S TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000457662.2_Silent_p.S74S|TRIM13_ENST00000298772.5_Silent_p.S77S|TRIM13_ENST00000356017.4_Silent_p.S77S|TRIM13_ENST00000420995.2_Silent_p.S74S NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1 NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1 O60858 TRI13_HUMAN tripartite motif containing 13 74 anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) TTAATTACTCCCTGAAGGGTA 0.453000 24 58 0 0 0.654019 0 0 SSTR1 6751 broad.mit.edu 37 14 38679184 38679184 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:38679184G>A ENST00000267377.2 + 3 1207 c.590G>A c.(589-591)cGc>cAc p.R197H NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 197 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GTCTTCTCTCGCACCGCGGCC 0.632000 17 24 0 0 0.539581 0 0 KCNK10 54207 broad.mit.edu 37 14 88652128 88652128 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:88652128C>T ENST00000340700.5 - 7 1819 c.1368G>A c.(1366-1368)agG>agA p.R456R KCNK10_ENST00000312350.5_Silent_p.R461R|KCNK10_ENST00000319231.5_Silent_p.R461R NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 456 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 CCTTGTTTTTCCTCTTGGTGA 0.537000 35 86 0 0 0.834066 0 0 C1orf61 10485 broad.mit.edu 37 1 156386625 156386625 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:156386625G>A ENST00000368243.1 - 3 123 c.7C>T c.(7-9)Ctg>Ttg p.L3L C1orf61_ENST00000476966.1_Intron NM_006365.1 NP_006356.1 Q13536 CROC4_HUMAN chromosome 1 open reading frame 61 3 nucleus large_intestine(2)|lung(2)|skin(1) 5 Hepatocellular(266;0.158) TCCTCAGTCAGGAACATGCCA 0.418000 42 76 0 0 0.847076 0 0 LILRB4 11006 broad.mit.edu 37 19 55179098 55179098 + Missense_Mutation SNP G G A rs146325339 byFrequency TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:55179098G>A ENST00000391736.1 + 13 1369 c.1054G>A c.(1054-1056)Gat>Aat p.D352N LILRB4_ENST00000391733.3_Missense_Mutation_p.D353N|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Missense_Mutation_p.D352N|LILRB4_ENST00000430952.2_Missense_Mutation_p.D351N NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 352 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GAGCCCACACGATGAAGACCC 0.567000 25 74 0 0 0.717897 0 0 PSG9 5678 broad.mit.edu 37 19 43766069 43766069 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:43766069C>T ENST00000244293.7 - 3 718 c.652G>A c.(652-654)Gaa>Aaa p.E218K PSG9_ENST00000593948.1_Missense_Mutation_p.E218K|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.E218K Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 218 Ig-like C2-type 1. female pregnancy extracellular region p.E218K(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TTCCGTATTTCACATTCATAG 0.512000 140 337 0 0 0.870114 0 0 C1orf56 54964 broad.mit.edu 37 1 151020721 151020721 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:151020721G>A ENST00000368926.5 + 1 506 c.398G>A c.(397-399)gGg>gAg p.G133E NM_017860.3 NP_060330.2 Q9BUN1 CA056_HUMAN chromosome 1 open reading frame 56 133 extracellular region endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AATACAGCGGGGAGTTCCAGC 0.557000 21 51 0 0 0.592651 0 0 PAH 5053 broad.mit.edu 37 12 103245512 103245512 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:103245512C>T ENST00000553106.1 - 8 1337 c.865G>A c.(865-867)Gga>Aga p.G289R PAH_ENST00000307000.2_Missense_Mutation_p.G284R NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 289 catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) GGCACATGTCCCAACAGCTCA 0.468000 23 54 0 0 0.740014 0 0 OR1S2 219958 broad.mit.edu 37 11 57971480 57971480 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:57971480G>A ENST00000302592.6 - 1 173 c.174C>T c.(172-174)atC>atT p.I58I NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) TAGCCACAATGATGAGCCCGT 0.468000 18 90 0 0 0.592651 0 0 PASD1 139135 broad.mit.edu 37 X 150844513 150844513 + Missense_Mutation SNP G G C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:150844513G>C ENST00000370357.4 + 16 2465 c.2220G>C c.(2218-2220)caG>caC p.Q740H NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 740 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CTGATCCACAGGCTTTCCAAG 0.527000 54 102 0 0 0.870114 0 0 NAGA 4668 broad.mit.edu 37 22 42464507 42464507 + Missense_Mutation SNP A A C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr22:42464507A>C ENST00000396398.3 - 2 620 c.88T>G c.(88-90)Tgg>Ggg p.W30G NAGA_ENST00000403363.1_Missense_Mutation_p.W30G|NAGA_ENST00000402937.1_Missense_Mutation_p.W30G NM_000262.2 NP_000253.1 P17050 NAGAB_HUMAN N-acetylgalactosaminidase, alpha- 30 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 CAGGCCAGCCAGCCCATGGGT 0.582000 39 81 0 0 0.847076 0 0 ZNF676 163223 broad.mit.edu 37 19 22363108 22363108 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:22363108G>A ENST00000397121.2 - 3 1728 c.1411C>T c.(1411-1413)Cat>Tat p.H471Y NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 471 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCTGCAGCATGAATTCTCTTG 0.393000 41 117 0 0 0.859065 0 0 SNPH 9751 broad.mit.edu 37 20 1285629 1285629 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:1285629G>A ENST00000381867.1 + 7 1190 c.548G>A c.(547-549)cGa>cAa p.R183Q SNPH_ENST00000381873.3_Missense_Mutation_p.R139Q O15079 SNPH_HUMAN syntaphilin 139 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 AAGGAGGCCCGAAAGGAGATC 0.557000 38 121 0 0 0.840704 0 0 MIER2 54531 broad.mit.edu 37 19 325681 325681 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:325681G>A ENST00000264819.4 - 7 619 c.609C>T c.(607-609)ttC>ttT p.F203F NM_017550.1 NP_060020.1 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family member 2 203 ELM2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTCAGCTTGGAACTGAGGTC 0.602000 34 71 0 0 0.870114 0 0 DBR1 51163 broad.mit.edu 37 3 137893608 137893608 + Missense_Mutation SNP G G C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:137893608G>C ENST00000260803.4 - 1 183 c.30C>G c.(28-30)caC>caG p.H10Q DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 10 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 CCAGCTCGCCGTGGCAGCAGC 0.687000 4 14 0 0 0.184627 0 0 TJP3 27134 broad.mit.edu 37 19 3734316 3734316 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:3734316C>T ENST00000382008.3 + 8 1094 c.911C>T c.(910-912)cCc>cTc p.P304L TJP3_ENST00000589378.1_Intron|TJP3_ENST00000587686.1_Intron|TJP3_ENST00000539908.2_Intron|TJP3_ENST00000262968.9_Missense_Mutation_p.P323L|TJP3_ENST00000541714.2_Intron O95049 ZO3_HUMAN tight junction protein 3 304 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) ATGTCCTCTCCCCCTGCAGAC 0.602000 16 41 0 0 0.539581 0 0 OR4B1 119765 broad.mit.edu 37 11 48238866 48238866 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:48238866C>T ENST00000309562.2 + 1 523 c.505C>T c.(505-507)Ccc>Tcc p.P169S NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 CTTCTGTGGTCCCAATGTGAT 0.498000 46 85 0 0 0.870114 0 0 MARCH1 55016 broad.mit.edu 37 4 164534518 164534518 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:164534518G>A ENST00000503008.1 - 5 1166 c.190C>T c.(190-192)Ccc>Tcc p.P64S MARCH1_ENST00000514618.1_Missense_Mutation_p.P64S|MARCH1_ENST00000274056.7_Missense_Mutation_p.P64S|MARCH1_ENST00000339875.5_Missense_Mutation_p.P47S NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 64 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 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) TGGCTCCTGGGAGCTGTCCCT 0.413000 38 73 0 0 0.870114 0 0 SLC26A8 116369 broad.mit.edu 37 6 35967854 35967854 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr6:35967854C>T ENST00000490799.1 - 4 713 c.360G>A c.(358-360)ctG>ctA p.L120L SLC26A8_ENST00000394602.2_Silent_p.L120L|SLC26A8_ENST00000355574.2_Silent_p.L120L NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 120 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 GAGGAGGAATCAGTTGCCTTG 0.378000 30 70 0 0 0.769981 0 0 SIRPB1 10326 broad.mit.edu 37 20 1600573 1600573 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:1600573G>A ENST00000381605.4 - 1 82 c.18C>T c.(16-18)tcC>tcT p.S6S SIRPB1_ENST00000568365.1_Silent_p.S6S|SIRPB1_ENST00000279477.7_Silent_p.S6S|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Silent_p.S6S|RP4-576H24.4_ENST00000564763.1_Silent_p.S6S NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 6 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGTGGGGCCAGGAGGCTGGCA 0.562000 27 57 0 0 0.750413 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33956962 33956962 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:33956962C>T ENST00000361328.3 + 6 1257 c.1104C>T c.(1102-1104)ggC>ggT p.G368G ZSCAN20_ENST00000373413.2_Silent_p.G314G NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 368 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGGCAAGGGGCTTCCTGCGGA 0.537000 34 109 0 0 0.847076 0 0 ZFAT 57623 broad.mit.edu 37 8 135669926 135669926 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:135669926G>A ENST00000520727.1 - 3 337 c.38C>T c.(37-39)tCg>tTg p.S13L ZFAT_ENST00000523399.1_Missense_Mutation_p.S25L|ZFAT_ENST00000429442.2_Missense_Mutation_p.S13L|ZFAT_ENST00000520356.1_Missense_Mutation_p.S13L|ZFAT_ENST00000520214.1_Missense_Mutation_p.S13L|ZFAT_ENST00000377838.3_Missense_Mutation_p.S25L NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 25 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding p.S13L(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GAGGAGTTCCGACTGATTTGG 0.408000 7 40 0 0 0.335167 0 0 MAPKAP1 79109 broad.mit.edu 37 9 128305419 128305419 + Nonsense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr9:128305419G>A ENST00000265960.3 - 7 1209 c.877C>T c.(877-879)Cag>Tag p.Q293* MAPKAP1_ENST00000350766.3_Nonsense_Mutation_p.Q293*|MAPKAP1_ENST00000373503.3_Nonsense_Mutation_p.Q101*|MAPKAP1_ENST00000394063.1_Nonsense_Mutation_p.Q101*|MAPKAP1_ENST00000373498.1_Nonsense_Mutation_p.Q293*|MAPKAP1_ENST00000394060.3_Nonsense_Mutation_p.Q293*|MAPKAP1_ENST00000373511.2_Nonsense_Mutation_p.Q293*|MAPKAP1_ENST00000373497.5_Nonsense_Mutation_p.Q42* NM_001006617.1 NP_001006618.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 293 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 TTGTCCACCTGAATAAGGGAG 0.393000 42 95 0 0 0.870114 0 0 PIEZO2 63895 broad.mit.edu 37 18 10681742 10681742 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr18:10681742G>A ENST00000302079.6 - 46 7166 c.7167C>T c.(7165-7167)ttC>ttT p.F2389F PIEZO2_ENST00000538948.1_Silent_p.F409F|PIEZO2_ENST00000503781.3_Silent_p.F2452F|PIEZO2_ENST00000580640.1_Silent_p.F2477F|PIEZO2_ENST00000285141.4_Silent_p.F244F Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2421 integral to membrane ion channel activity CACTCATTGTGAAAATAGGCT 0.393000 25 50 0 0 0.750413 0 0 BRINP2 57795 broad.mit.edu 37 1 177250488 177250488 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:177250488C>T ENST00000361539.4 + 8 2488 c.2176C>T c.(2176-2178)Cgg>Tgg p.R726W FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 726 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 GCTCAGGGACCGGGTGAACCA 0.537000 24 84 0 0 0.681144 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22784265 22784265 + RNA SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:22784265G>A ENST00000600260.1 + 0 699 RN7SL860P_ENST00000473738.2_RNA NR_033899.1 AGGAAGAGGAGGGAGCCCAGG 0.577000 3 3 0 0 0.115264 0 0 GREM1 26585 broad.mit.edu 37 15 33023430 33023430 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:33023430C>T ENST00000300177.4 + 2 728 c.539C>T c.(538-540)tCc>tTc p.S180F GREM1_ENST00000560677.1_3'UTR|GREM1_ENST00000560830.1_Missense_Mutation_p.S139F|GREM1_ENST00000322805.4_Missense_Mutation_p.S139F NM_001191322.1|NM_001191323.1|NM_013372.6 NP_001178251.1|NP_001178252.1|NP_037504.1 O60565 GREM1_HUMAN gremlin 1, DAN family BMP antagonist 180 CTCK. negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1) 10 all_lung(180;1.49e-09) all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107) CGTTGCATATCCATCGATTTG 0.478000 23 66 0 0 0.667858 0 0 TRHDE 29953 broad.mit.edu 37 12 72866853 72866853 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:72866853G>A ENST00000261180.4 + 5 1438 c.1342G>A c.(1342-1344)Ggt>Agt p.G448S NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 448 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GCAGTGGTTTGGTGACCTTGT 0.368000 51 180 0 0 0.870114 0 0 NONO 4841 broad.mit.edu 37 X 70511803 70511803 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:70511803G>A ENST00000535149.1 + 2 705 c.62G>A c.(61-63)gGa>gAa p.G21E NONO_ENST00000276079.8_Missense_Mutation_p.G110E|NONO_ENST00000373841.1_Missense_Mutation_p.G110E|NONO_ENST00000373856.3_Missense_Mutation_p.G110E NM_001145410.1 NP_001138882.1 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 110 DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) AAGGATAAAGGATTTGGCTTT 0.428000 T TFE3 papillary renal cancer 36 88 0 0 0.864702 0 0 SAMD9 54809 broad.mit.edu 37 7 92730924 92730924 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:92730924C>T ENST00000379958.2 - 3 4756 c.4487G>A c.(4486-4488)gGa>gAa p.G1496E NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1496 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GTCAATTTTTCCTTTGTGAAC 0.378000 51 41 0 0 0.870114 0 0 PDE11A 50940 broad.mit.edu 37 2 178705018 178705018 + Missense_Mutation SNP T T C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:178705018T>C ENST00000286063.5 - 6 1777 c.1460A>G c.(1459-1461)aAc>aGc p.N487S PDE11A_ENST00000409504.1_Missense_Mutation_p.N129S|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.N129S|PDE11A_ENST00000358450.4_Missense_Mutation_p.N237S|PDE11A_ENST00000389683.3_Missense_Mutation_p.N43S NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 487 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) ATCACTGATGTTCACTGGAAG 0.458000 Primary Pigmented Nodular Adrenocortical Disease, Familial 36 38 0 0 0.827153 0 0 STOML3 161003 broad.mit.edu 37 13 39542571 39542571 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr13:39542571G>A ENST00000379631.4 - 6 961 c.617C>T c.(616-618)gCc>gTc p.A206V STOML3_ENST00000423210.1_Missense_Mutation_p.A197V NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 206 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) CTCAGCCTCGGCTGCCATGGA 0.562000 58 114 0 0 0.870114 0 0 WRB 7485 broad.mit.edu 37 21 40762628 40762628 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr21:40762628C>T ENST00000333781.5 + 2 248 c.107C>T c.(106-108)tCc>tTc p.S36F WRB_ENST00000380708.1_Missense_Mutation_p.S2F|WRB_ENST00000398753.1_Missense_Mutation_p.S2F|WRB_ENST00000541890.1_Missense_Mutation_p.S36F|WRB_ENST00000466787.1_3'UTR NM_004627.4 NP_004618.2 O00258 WRB_HUMAN tryptophan rich basic protein 36 integral to membrane|nucleolus endometrium(3) 3 Prostate(19;1.2e-06) TGCCAGATGTCCAGGGTGCTG 0.587000 11 24 0 0 0.479597 0 0 KCNB2 9312 broad.mit.edu 37 8 73848172 73848172 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:73848172C>T ENST00000523207.1 + 3 1170 c.582C>T c.(580-582)atC>atT p.I194I NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 194 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TTTTCCAGATCCTGGCCATCG 0.463000 53 197 0 0 0.870114 0 0 MEGF8 1954 broad.mit.edu 37 19 42841001 42841001 + Missense_Mutation SNP T T A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:42841001T>A ENST00000334370.4 + 7 1922 c.1287T>A c.(1285-1287)gaT>gaA p.D429E MEGF8_ENST00000251268.6_Missense_Mutation_p.D429E NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 429 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TCCACGTGGATCGGCATGTGT 0.607000 35 68 0 0 0.834066 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98363745 98363745 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:98363745C>T ENST00000339364.5 - 15 2351 c.2232G>A c.(2230-2232)ggG>ggA p.G744G PIK3AP1_ENST00000371109.3_Silent_p.G343G|PIK3AP1_ENST00000371110.2_Silent_p.G566G NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 744 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) CCTCGTTGTCCCCTTCCATCC 0.547000 3 10 0 0 0.115264 0 0 TBX22 50945 broad.mit.edu 37 X 79286598 79286598 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:79286598C>T ENST00000442340.1 + 9 1681 c.1191C>T c.(1189-1191)aaC>aaT p.N397N TBX22_ENST00000373294.5_Silent_p.N517N|TBX22_ENST00000373296.3_Silent_p.N517N|TBX22_ENST00000373291.1_Silent_p.N397N NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 517 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 CAGCAATTAACCATTACCTTT 0.323000 12 24 0 0 0.479597 0 0 GRIK2 2898 broad.mit.edu 37 6 102250277 102250277 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr6:102250277G>A ENST00000369138.1 + 8 1657 c.1167G>A c.(1165-1167)ttG>ttA p.L389L GRIK2_ENST00000413795.1_Silent_p.L389L|GRIK2_ENST00000369134.4_Silent_p.L340L|GRIK2_ENST00000421544.1_Silent_p.L389L|GRIK2_ENST00000318991.6_Silent_p.L389L|GRIK2_ENST00000369137.3_Silent_p.L389L NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 389 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) ATTTTGATTTGGATGTGATCA 0.338000 24 60 0 0 0.729181 0 0 AGGF1 55109 broad.mit.edu 37 5 76351386 76351386 + Missense_Mutation SNP G G C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:76351386G>C ENST00000312916.7 + 11 2063 c.1681G>C c.(1681-1683)Gaa>Caa p.E561Q NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 561 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) AAGAAGAAAAGAATTAAAGAA 0.294000 15 31 0 0 0.575678 0 0 CXorf56 63932 broad.mit.edu 37 X 118678358 118678358 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:118678358C>T ENST00000320339.4 - 4 505 c.234G>A c.(232-234)ggG>ggA p.G78G CXorf56_ENST00000476164.1_Silent_p.G127G|CXorf56_ENST00000486230.1_Silent_p.G127G|CXorf56_ENST00000371594.4_Silent_p.G127G|CXorf56_ENST00000536133.1_Silent_p.G113G NM_001170569.1 NP_001164040.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 127 protein binding cervix(1)|endometrium(2)|lung(7) 10 TGTTCGTTTTCCCAAAGCCCT 0.443000 18 94 0 0 0.575678 0 0 ARAF 369 broad.mit.edu 37 X 47424737 47424737 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:47424737C>T ENST00000377045.4 + 6 739 c.545C>T c.(544-546)cCc>cTc p.P182L ARAF_ENST00000377039.2_Missense_Mutation_p.P182L|ARAF_ENST00000290277.6_Missense_Mutation_p.P182L NM_001256196.1|NM_001654.4 NP_001243125.1|NP_001645.1 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene homolog 182 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) TTGCTAACCCCCCAGGGTCCC 0.537000 28 40 0 0 0.750413 0 0 HYAL3 8372 broad.mit.edu 37 3 50332838 50332838 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:50332838G>A ENST00000336307.1 - 2 468 c.196C>T c.(196-198)Cac>Tac p.H66Y HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000450982.1_Missense_Mutation_p.H66Y|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000359051.3_Missense_Mutation_p.H66Y NM_001200029.1|NM_003549.3 NP_001186958.1|NP_003540.2 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 66 carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TTCTGACCGTGAAAATGCTGG 0.552000 43 123 0 0 0.870114 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64756115 64756115 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:64756115C>T ENST00000536360.1 - 4 1326 c.513G>A c.(511-513)aaG>aaA p.K171K Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 171 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CTGTGGTATTCTTTAAAGGTT 0.323000 38 73 0 0 0.864702 0 0 LINC00303 284573 broad.mit.edu 37 1 204009438 204009438 + RNA SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:204009438G>A ENST00000367207.3 - 0 258 TGTGTATGGAGACTGTAGGGG 0.453000 6 13 0 0 0.307466 0 0 KLHL38 340359 broad.mit.edu 37 8 124663999 124663999 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:124663999C>T ENST00000325995.7 - 1 1191 c.1168G>A c.(1168-1170)Ggg>Agg p.G390R CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 390 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 TCTCCAATCCCCCCGATGGAG 0.582000 13 32 0 0 0.411799 0 0 NTRK1 4914 broad.mit.edu 37 1 156844747 156844747 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:156844747C>T ENST00000368196.3 + 10 1403 c.1283C>T c.(1282-1284)aCg>aTg p.T428M NTRK1_ENST00000358660.3_Missense_Mutation_p.T428M|NTRK1_ENST00000524377.1_Missense_Mutation_p.T434M|NTRK1_ENST00000392302.2_Missense_Mutation_p.T398M NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 434 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) TTCCTTTCTACGCTGCTCCTT 0.582000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 42 140 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179636157 179636157 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:179636157C>T ENST00000589042.1 - 34 8121 c.7897G>A c.(7897-7899)Gaa>Aaa p.E2633K TTN_ENST00000359218.5_Missense_Mutation_p.E2587K|TTN_ENST00000591111.1_Missense_Mutation_p.E2633K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E2633K|TTN_ENST00000360870.5_Missense_Mutation_p.E2633K|TTN_ENST00000460472.2_Missense_Mutation_p.E2587K|TTN_ENST00000342175.6_Missense_Mutation_p.E2587K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2369 Ig-like 15. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCTGGGATTCAGCTACGGTC 0.458000 49 44 0 0 0.870114 0 0 CACNA1H 8912 broad.mit.edu 37 16 1254232 1254232 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:1254232C>T ENST00000348261.5 + 10 2473 c.2225C>T c.(2224-2226)cCc>cTc p.P742L CACNA1H_ENST00000565831.1_Missense_Mutation_p.P742L|CACNA1H_ENST00000358590.4_Missense_Mutation_p.P742L NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 742 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CGCTGGGACCCCACGCGACCA 0.711000 4 12 0 0 0.184627 0 0 RBBP8NL 140893 broad.mit.edu 37 20 60992363 60992363 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:60992363C>T ENST00000252998.1 - 4 273 c.117G>A c.(115-117)agG>agA p.R39R NM_080833.2 NP_543023.2 RBBP8 N-terminal like GCTCCTCGATCCTCTGGGCGT 0.622000 4 5 0 0 0.184627 0 0 ATCAY 85300 broad.mit.edu 37 19 3907764 3907764 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:3907764C>T ENST00000450849.2 + 5 858 c.391C>T c.(391-393)Ccc>Tcc p.P131S ATCAY_ENST00000600960.1_Missense_Mutation_p.P131S|ATCAY_ENST00000398448.3_Missense_Mutation_p.P137S|ATCAY_ENST00000301260.6_Missense_Mutation_p.P131S NM_033064.4 NP_149053.1 Q86WG3 ATCAY_HUMAN ataxia, cerebellar, Cayman type 131 transport protein binding breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) CAAGAACATGCCCGGGGACAG 0.667000 24 46 0 0 0.740014 0 0 AMER1 139285 broad.mit.edu 37 X 63410602 63410602 + Silent SNP A A G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:63410602A>G ENST00000330258.3 - 2 2837 c.2565T>C c.(2563-2565)caT>caC p.H855H AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) AGAATCGACTATGGTAGTTGT 0.547000 2 6 0 0 0.115264 0 0 DPYS 1807 broad.mit.edu 37 8 105441861 105441861 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:105441861C>T ENST00000351513.2 - 5 994 c.862G>A c.(862-864)Gaa>Aaa p.E288K NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 288 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGGTGCCATTCTTTATTCCAG 0.478000 29 41 0 0 0.750413 0 0 COL27A1 85301 broad.mit.edu 37 9 117027750 117027750 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr9:117027750G>A ENST00000356083.3 + 32 3779 c.3388G>A c.(3388-3390)Gaa>Aaa p.E1130K NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1130 Collagen-like 9.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CCTCCCAGGAGAACCGGTAAG 0.622000 13 34 0 0 0.575678 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 3 66 0 0 0.184627 0 0 VPS13B 157680 broad.mit.edu 37 8 100287337 100287337 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:100287337C>T ENST00000395996.1 + 19 2790 c.2679C>T c.(2677-2679)ccC>ccT p.P893P VPS13B_ENST00000357162.2_Silent_p.P893P|VPS13B_ENST00000358544.2_Silent_p.P893P Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 893 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGTTGATTCCCTTGCTTCAGG 0.353000 4 18 0 0 0.150653 0 0 MUC16 94025 broad.mit.edu 37 19 9049091 9049091 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:9049091G>A ENST00000397910.4 - 5 32743 c.32540C>T c.(32539-32541)tCa>tTa p.S10847L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10849 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTGGTGTCTGATTTACTATG 0.493000 35 95 0 0 0.847076 0 0 EIF6 3692 broad.mit.edu 37 20 33872285 33872285 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:33872285C>T ENST00000374450.3 - 2 270 c.6G>A c.(4-6)gcG>gcA p.A2A EIF6_ENST00000462894.1_5'UTR|EIF6_ENST00000374436.3_Silent_p.A2A|EIF6_ENST00000374443.3_Silent_p.A2A NM_002212.3 NP_002203.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 2 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(18;0.00252) AAGCTCGGACCGCCATGAGGC 0.637000 47 125 0 0 0.870114 0 0 TBC1D25 4943 broad.mit.edu 37 X 48418190 48418190 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:48418190C>T ENST00000376771.4 + 6 1235 c.894C>T c.(892-894)gcC>gcT p.A298A TBC1D25_ENST00000537536.1_Silent_p.A44A|TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000427713.1_3'UTR NM_002536.2 NP_002527.1 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 298 Rab-GAP TBC. intracellular Rab GTPase activator activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 CTGACCGGGCCCACCCCTACT 0.632000 9 40 0 0 0.335167 0 0 NLGN2 57555 broad.mit.edu 37 17 7318850 7318850 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:7318850C>T ENST00000302926.2 + 6 1131 c.1058C>T c.(1057-1059)cCc>cTc p.P353L NLGN2_ENST00000575301.1_Missense_Mutation_p.P353L NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 353 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) GCCTTTGGGCCCGTGGTGGAT 0.612000 22 36 0 0 0.639603 0 0 ACE 1636 broad.mit.edu 37 17 61571353 61571353 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:61571353C>T ENST00000577647.1 + 10 1530 c.1485C>T c.(1483-1485)gtC>gtT p.V495V ACE_ENST00000490216.2_Silent_p.V495V|ACE_ENST00000428043.1_Silent_p.V1069V|ACE_ENST00000290863.6_Silent_p.V495V|ACE_ENST00000290866.4_Silent_p.V1069V|ACE_ENST00000413513.3_Silent_p.V495V|ACE_ENST00000421982.2_Silent_p.V315V P12821 ACE_HUMAN angiotensin I converting enzyme 1069 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 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) GCTACCTCGTCGATCAGTGGC 0.537000 25 29 0 0 0.693898 0 0 SLC6A12 6539 broad.mit.edu 37 12 300272 300272 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:300272C>T ENST00000428720.1 - 16 2550 c.1807G>A c.(1807-1809)Gaa>Aaa p.E603K SLC6A12_ENST00000424061.2_Missense_Mutation_p.E603K|SLC6A12_ENST00000397296.2_Missense_Mutation_p.E603K|SLC6A12_ENST00000359674.4_Missense_Mutation_p.E603K|SLC6A12_ENST00000536824.1_Missense_Mutation_p.E603K NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 603 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) ATCAGTCCTTCCCTTGTTGGG 0.622000 4 17 0 0 0.248553 0 0 SULF2 55959 broad.mit.edu 37 20 46319016 46319016 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:46319016G>A ENST00000359930.4 - 5 1442 c.591C>T c.(589-591)acC>acT p.T197T SULF2_ENST00000484875.1_Silent_p.T197T|SULF2_ENST00000467815.1_Silent_p.T197T|SULF2_ENST00000361612.4_Silent_p.T197T NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 197 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 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 CGCTGTCATTGGTGATGAGGT 0.587000 11 36 0 0 0.435327 0 0 SLC26A9 115019 broad.mit.edu 37 1 205896384 205896384 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:205896384C>T ENST00000367135.3 - 11 1361 c.1248G>A c.(1246-1248)atG>atA p.M416I SLC26A9_ENST00000367134.2_Missense_Mutation_p.M416I|SLC26A9_ENST00000340781.4_Missense_Mutation_p.M416I NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 416 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GCATGGTGATCATCACCACCA 0.483000 32 104 0 0 0.796494 0 0 DLG5 9231 broad.mit.edu 37 10 79576333 79576333 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:79576333G>A ENST00000372391.2 - 20 4006 c.4001C>T c.(4000-4002)tCc>tTc p.S1334F DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.S994F NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1334 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CTCCCCGAGGGACGCGGGGTT 0.627000 38 50 0 0 0.853193 0 0 SEC16A 9919 broad.mit.edu 37 9 139370631 139370631 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr9:139370631G>A ENST00000313050.7 - 1 1510 c.1437C>T c.(1435-1437)gaC>gaT p.D479D SEC16A_ENST00000431893.2_Silent_p.D301D|SEC16A_ENST00000371706.3_Silent_p.D301D|SEC16A_ENST00000290037.6_Silent_p.D301D NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 301 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GGGAGGAAGGGTCCAAATTGA 0.572000 18 50 0 0 0.539581 0 0 CIB2 10518 broad.mit.edu 37 15 78401635 78401635 + Silent SNP G G A rs150519426 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:78401635G>A ENST00000258930.3 - 4 616 c.288C>T c.(286-288)tcC>tcT p.S96S CIB2_ENST00000560618.1_Silent_p.S53S|CIB2_ENST00000557846.1_Silent_p.S47S|CIB2_ENST00000539011.1_Silent_p.S53S NM_006383.2 NP_006374.1 O75838 CIB2_HUMAN calcium and integrin binding family member 2 96 EF-hand 1. calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 11 CGCAGAGCACGGAAAACATGT 0.537000 29 53 0 0 0.750413 0 0 POTEE 445582 broad.mit.edu 37 2 132021833 132021833 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:132021833C>T ENST00000356920.5 + 15 2899 c.2805C>T c.(2803-2805)tcC>tcT p.S935S PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 935 Actin-like. ATP binding CCAGCTCCTCCCTAGAGAAGA 0.627000 7 223 0 0 0.435327 0 0 MYO18B 84700 broad.mit.edu 37 22 26422717 26422717 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr22:26422717G>A ENST00000335473.7 + 43 7027 c.6777G>A c.(6775-6777)agG>agA p.R2259R MYO18B_ENST00000536101.1_Silent_p.R2259R|MYO18B_ENST00000407587.2_Silent_p.R2260R NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2259 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGCTCCGGAGGAAGAGAGCCC 0.632000 3 11 0 0 0.115264 0 0 ACSM1 116285 broad.mit.edu 37 16 20648709 20648709 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:20648709G>A ENST00000219151.4 - 8 1248 c.38C>T c.(37-39)cCa>cTa p.P13L ACSM1_ENST00000520010.1_Missense_Mutation_p.P394L|ACSM1_ENST00000307493.4_Missense_Mutation_p.P394L Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 394 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 GTCGTAGGGTGGAGTGGCCTT 0.537000 34 100 0 0 0.859065 0 0 GRAMD4 23151 broad.mit.edu 37 22 47059053 47059053 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr22:47059053C>T ENST00000406902.1 + 6 796 c.583C>T c.(583-585)Ccc>Tcc p.P195S GRAMD4_ENST00000361034.3_Missense_Mutation_p.P195S Q6IC98 GRAM4_HUMAN GRAM domain containing 4 195 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) GACAGAGGAACCCCTGAGCGC 0.662000 46 82 0 0 0.870114 0 0 AGMO 392636 broad.mit.edu 37 7 15425094 15425094 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:15425094C>T ENST00000342526.3 - 10 1220 c.1051G>A c.(1051-1053)Gaa>Aaa p.E351K NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 351 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 AAGGTCTCTTCATAAAATGCC 0.358000 28 74 0 0 0.706142 0 0 WHAMM 123720 broad.mit.edu 37 15 83499402 83499402 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:83499402C>T ENST00000286760.4 + 9 1792 c.1693C>T c.(1693-1695)Cca>Tca p.P565S NM_001080435.1 NP_001073904.1 Q8TF30 WHAMM_HUMAN WAS protein homolog associated with actin, golgi membranes and microtubules 565 cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus actin binding endometrium(6)|large_intestine(5)|lung(1)|prostate(1) 13 ACCTGTGGCTCCAAACCTGCC 0.507000 89 199 0 0 0.870114 0 0 SRRM2 23524 broad.mit.edu 37 16 2812878 2812878 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:2812878C>T ENST00000301740.8 + 11 2898 c.2349C>T c.(2347-2349)tcC>tcT p.S783S NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 783 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CAGGGTCTTCCCCATGCCCTA 0.532000 81 204 0 0 0.870114 0 0 PCLO 27445 broad.mit.edu 37 7 82578914 82578914 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:82578914C>T ENST00000423517.2 - 6 11327 c.10990G>A c.(10990-10992)Gtt>Att p.V3664I PCLO_ENST00000333891.8_Missense_Mutation_p.V3664I|PCLO_ENST00000437081.1_Missense_Mutation_p.V384I NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3595 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCTGGGGGAACTTTAGCCATA 0.478000 144 174 0 0 0.870114 0 0 CORO2B 10391 broad.mit.edu 37 15 69011509 69011509 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:69011509C>T ENST00000543950.1 + 10 1446 c.1092C>T c.(1090-1092)taC>taT p.Y364Y CORO2B_ENST00000566799.1_Silent_p.Y369Y|CORO2B_ENST00000540068.1_Silent_p.Y364Y|CORO2B_ENST00000261861.5_Silent_p.Y364Y NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 369 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 AAGACATTTACCCAATGACAC 0.592000 77 203 0 0 0.870114 0 0 KDM4B 23030 broad.mit.edu 37 19 5131448 5131448 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:5131448G>A ENST00000159111.4 + 12 1895 c.1677G>A c.(1675-1677)ccG>ccA p.P559P KDM4B_ENST00000536461.1_Silent_p.P593P NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 559 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 AGAAGGGTCCGACCTGGAAGG 0.662000 25 53 0 0 0.693898 0 0 ANKRD42 338699 broad.mit.edu 37 11 82917156 82917156 + Silent SNP T T C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:82917156T>C ENST00000393389.3 + 3 1211 c.279T>C c.(277-279)ggT>ggC p.G93G ANKRD42_ENST00000531895.1_Silent_p.G93G|ANKRD42_ENST00000526731.1_Silent_p.G93G|ANKRD42_ENST00000533342.1_Silent_p.G93G|ANKRD42_ENST00000393392.2_Silent_p.G65G|ANKRD42_ENST00000260047.6_Silent_p.G93G|ANKRD42_ENST00000528722.1_5'UTR Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 65 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 CAACGAGAGGTTGGACAGCAT 0.378000 44 79 0 0 0.870114 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677213 37677213 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:37677213G>A ENST00000532828.2 - 5 1477 c.1226C>T c.(1225-1227)tCg>tTg p.S409L ZNF585B_ENST00000531805.1_Missense_Mutation_p.S354L|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GCATATATACGATTTTTCTCC 0.423000 28 67 0 0 0.750413 0 0 TLN1 7094 broad.mit.edu 37 9 35719779 35719779 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr9:35719779G>A ENST00000314888.9 - 14 1889 c.1536C>T c.(1534-1536)acC>acT p.T512T TLN1_ENST00000540444.1_Silent_p.T512T NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 512 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGTCATCCAGGGTGGCCTGGG 0.572000 3 6 0 0 0.150653 0 0 OR2T12 127064 broad.mit.edu 37 1 248458257 248458257 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:248458257G>A ENST00000317996.1 - 1 623 c.624C>T c.(622-624)ccC>ccT p.P208P NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) TGAGGGAAAAGGGGACCAGGA 0.547000 27 59 0 0 0.729181 0 0 ZNF208 7757 broad.mit.edu 37 19 22155020 22155020 + Missense_Mutation SNP T T G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:22155020T>G ENST00000397126.4 - 4 2964 c.2816A>C c.(2815-2817)cAt>cCt p.H939P ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CTCTCCAGCATGAGTTTTCTT 0.373000 15 22 0 0 0.520397 0 0 XIRP1 165904 broad.mit.edu 37 3 39230094 39230094 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:39230094G>A ENST00000340369.3 - 2 1071 c.843C>T c.(841-843)atC>atT p.I281I XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.I281I NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 281 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGTCCTGGTTGATGGCGTCCA 0.657000 13 30 0 0 0.435327 0 0 UNC79 57578 broad.mit.edu 37 14 94173165 94173165 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:94173165G>A ENST00000553484.1 + 51 8043 c.7889G>A c.(7888-7890)cGa>cAa p.R2630Q UNC79_ENST00000555664.1_Missense_Mutation_p.R2569Q|UNC79_ENST00000393151.2_Missense_Mutation_p.R2608Q|UNC79_ENST00000256339.4_Missense_Mutation_p.R2431Q Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2608 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GCAGCCCTCCGAAAGTGGTTG 0.592000 25 57 0 0 0.693898 0 0 MMP7 4316 broad.mit.edu 37 11 102395778 102395778 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:102395778G>A ENST00000260227.4 - 4 554 c.502C>T c.(502-504)Cca>Tca p.P168S NM_002423.3 NP_002414.1 P09237 MMP7_HUMAN matrix metallopeptidase 7 (matrilysin, uterine) 168 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) CCATCAAATGGGTAGGAGTCC 0.458000 17 47 0 0 0.557998 0 0 CDH20 28316 broad.mit.edu 37 18 59167683 59167683 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr18:59167683G>A ENST00000262717.4 + 4 1007 c.609G>A c.(607-609)gtG>gtA p.V203V CDH20_ENST00000538374.1_Silent_p.V203V|CDH20_ENST00000536675.2_Silent_p.V203V Q9HBT6 CAD20_HUMAN cadherin 20, type 2 203 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GTGCCAGGGTGGTGTACAGCA 0.488000 51 103 0 0 0.870114 0 0 PDE6B 5158 broad.mit.edu 37 4 619608 619608 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:619608G>A ENST00000255622.6 + 1 236 c.193G>A c.(193-195)Gat>Aat p.D65N PDE6B_ENST00000496514.1_Missense_Mutation_p.D65N NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 65 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GCTGGTGCAGGATATGCAGGA 0.682000 14 26 0 0 0.457914 0 0 FAM71D 161142 broad.mit.edu 37 14 67665012 67665012 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:67665012C>T ENST00000556046.1 + 3 358 c.134C>T c.(133-135)cCc>cTc p.P45L Q8N9W8 FA71D_HUMAN family with sequence similarity 71, member D 45 breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1) 13 all_hematologic(31;0.0116) all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012) GTATCTCCTCCCATGTTAGAG 0.398000 38 96 0 0 0.870114 0 0 HYDIN 54768 broad.mit.edu 37 16 70995892 70995892 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:70995892C>T ENST00000393567.2 - 38 6088 c.5938G>A c.(5938-5940)Gag>Aag p.E1980K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1980 Poly-Glu. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGGCTTTCCTCATCCTCCTCT 0.458000 19 58 0 0 0.750413 0 0 BRAF 673 broad.mit.edu 37 7 140453137 140453137 + Missense_Mutation SNP C C T rs121913227 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:140453137C>T ENST00000288602.6 - 15 1858 c.1798G>A c.(1798-1800)Gtg>Atg p.V600M NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). 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.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1) 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) CGAGATTTCACTGTAGCTAGA 0.363000 V600M(IGR1_SKIN) 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 52 67 0 0 0.870114 0 0 SMYD2 56950 broad.mit.edu 37 1 214503535 214503535 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:214503535C>T ENST00000415093.2 + 8 752 c.730C>T c.(730-732)Ctg>Ttg p.244_244insL SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000366957.5_Silent_p.L244L Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 0 SET. negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) TATTGATCTCCTGTACCCAAC 0.433000 6 37 0 0 0.278610 0 0 WDR19 57728 broad.mit.edu 37 4 39196180 39196180 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:39196180C>T ENST00000399820.3 + 5 461 c.307C>T c.(307-309)Ctt>Ttt p.L103F WDR19_ENST00000288634.7_Intron|WDR19_ENST00000506503.1_Missense_Mutation_p.L103F NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 103 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 AATGTCTTTCCTTCTTTGGTC 0.333000 6 17 0 0 0.307466 0 0 SLX4IP 128710 broad.mit.edu 37 20 10582441 10582441 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:10582441C>T ENST00000334534.5 + 6 559 c.379C>T c.(379-381)Ctt>Ttt p.L127F NM_001009608.1 NP_001009608.1 SLX4 interacting protein CAGTCGTGATCTTTTAGCAAG 0.323000 21 50 0 0 0.740014 0 0 TTN 7273 broad.mit.edu 37 2 179440332 179440332 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:179440332C>T ENST00000589042.1 - 326 70751 c.70527G>A c.(70525-70527)gtG>gtA p.V23509V TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.V14569V|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.V21868V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V20941V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.V14444V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.V14636V|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21868 Ig-like 119. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTCTGCCATCACTCTGAAGA 0.443000 63 54 0 0 0.870114 0 0 PTPN9 5780 broad.mit.edu 37 15 75761126 75761126 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:75761126G>A ENST00000306726.2 - 13 2278 c.1766C>T c.(1765-1767)gCc>gTc p.A589V NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 589 cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ACTCTCCACGGCCAGCAGGTT 0.532000 85 130 0 0 0.870114 0 0 N4BP2 55728 broad.mit.edu 37 4 40133427 40133427 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:40133427G>A ENST00000261435.6 + 13 4950 c.4534G>A c.(4534-4536)Gag>Aag p.E1512K NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 1512 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 TTAGAAAAGGGAGACCCTTAT 0.333000 13 30 0 0 0.457914 0 0 PLCH2 9651 broad.mit.edu 37 1 2422699 2422699 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:2422699G>A ENST00000449969.1 + 11 1664 c.1503G>A c.(1501-1503)tcG>tcA p.S501S PLCH2_ENST00000378486.3_Silent_p.S528S|PLCH2_ENST00000378488.3_Silent_p.S528S|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000419816.2_Silent_p.S528S|PLCH2_ENST00000288766.5_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 528 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) TCAAAGAGTCGAAGATTCGGG 0.547000 26 31 0 0 0.681144 0 0 FBXL13 222235 broad.mit.edu 37 7 102524679 102524679 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:102524679C>T ENST00000393772.2 - 12 1515 c.1089G>A c.(1087-1089)ctG>ctA p.L363L FBXL13_ENST00000379305.3_Silent_p.L363L|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Silent_p.L363L|FBXL13_ENST00000455112.2_Silent_p.L363L|FBXL13_ENST00000379308.3_Silent_p.L363L|FBXL13_ENST00000313221.4_Silent_p.L363L Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 363 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 AGTTGTCCGTCAGAGTTGGCA 0.373000 64 256 0 0 0.870114 0 0 ACTL7B 10880 broad.mit.edu 37 9 111618064 111618064 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr9:111618064G>A ENST00000374667.3 - 1 1175 c.147C>T c.(145-147)atC>atT p.I49I NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 49 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TGACCGCCTTGATCTTGTGCA 0.642000 57 106 0 0 0.870114 0 0 NELL2 4753 broad.mit.edu 37 12 45059292 45059292 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:45059292G>A ENST00000429094.2 - 13 1923 c.1419C>T c.(1417-1419)atC>atT p.I473I NELL2_ENST00000452445.2_Silent_p.I473I|NELL2_ENST00000437801.2_Silent_p.I523I|NELL2_ENST00000551601.1_Silent_p.I472I|NELL2_ENST00000395487.2_Silent_p.I472I|NELL2_ENST00000333837.4_Silent_p.I496I|NELL2_ENST00000549027.1_Silent_p.I472I NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 473 EGF-like 2; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity 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) CATCAATTCTGATGTATCCAG 0.353000 19 34 0 0 0.557998 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960839 73960839 + Missense_Mutation SNP C C A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:73960839C>A ENST00000373468.1 - 3 4204 c.3553G>T c.(3553-3555)Ggg>Tgg p.G1185W KIAA2022_ENST00000055682.5_Missense_Mutation_p.G1185W Q5QGS0 K2022_HUMAN KIAA2022 1185 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTCATAGCCCCACTCTTGCTG 0.408000 34 66 1.84765e-07 1.86786e-07 0.788014 1 0 PRSS53 339105 broad.mit.edu 37 16 31098164 31098164 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:31098164C>T ENST00000280606.6 - 4 451 c.298G>A c.(298-300)Gag>Aag p.E100K NM_001039503.2 NP_001034592.1 Q2L4Q9 PRS53_HUMAN protease, serine, 53 100 Peptidase S1 1. proteolysis extracellular region serine-type endopeptidase activity large_intestine(1)|lung(3) 4 CTGAGTCCCTCACGCTGCAGA 0.627000 25 47 0 0 0.717897 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518063 84518063 + RNA SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:84518063G>A ENST00000331369.5 + 0 257 ACTCTCAGCCGAAAAGTATAG 0.498000 13 76 0 0 0.435327 0 0 OR8D1 283159 broad.mit.edu 37 11 124179743 124179743 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:124179743C>T ENST00000357821.2 - 1 990 c.920G>A c.(919-921)gGa>gAa p.G307E NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GACTCATTTTCCTACTAAGAC 0.368000 15 37 0 0 0.575678 0 0 NACA 4666 broad.mit.edu 37 12 57111705 57111705 + Silent SNP G G A rs2926746 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:57111705G>A ENST00000454682.1 - 3 3890 c.3609C>T c.(3607-3609)ccC>ccT p.P1203P NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 4 161 0 0 0.184627 0 0 COL11A1 1301 broad.mit.edu 37 1 103388915 103388915 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:103388915C>T ENST00000358392.2 - 47 3984 c.3667G>A c.(3667-3669)Gaa>Aaa p.E1223K COL11A1_ENST00000370096.3_Missense_Mutation_p.E1211K|COL11A1_ENST00000512756.1_Missense_Mutation_p.E1095K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1172K NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1211 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCCCATTTTCACCTTTTTCA 0.343000 4 25 0 0 0.184627 0 0 AGBL1 123624 broad.mit.edu 37 15 86940619 86940619 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:86940619C>T ENST00000441037.2 + 17 2354 c.2259C>T c.(2257-2259)atC>atT p.I753I AGBL1_ENST00000421325.2_Silent_p.I753I|AGBL1_ENST00000389298.3_Silent_p.I484I NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 753 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 ATCAGGTGATCACTGCTCGAG 0.428000 29 28 0 0 0.750413 0 0 DMD 1756 broad.mit.edu 37 X 32429938 32429938 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:32429938G>A ENST00000357033.4 - 30 4370 c.4164C>T c.(4162-4164)ttC>ttT p.F1388F DMD_ENST00000378677.2_Silent_p.F1384F 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 1388 F -> V (in dbSNP:rs28715870). 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 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) GCTTGTCAATGAATGTGAGGG 0.473000 33 42 0 0 0.779181 0 0 CADM3 57863 broad.mit.edu 37 1 159163792 159163792 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:159163792G>A ENST00000368125.4 + 5 810 c.653G>A c.(652-654)gGa>gAa p.G218E CADM3_ENST00000368124.4_Missense_Mutation_p.G252E NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 218 Ig-like C2-type 1. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) TCTCTAAAGGGAGCTGACAGA 0.502000 25 68 0 0 0.706142 0 0 OR51A7 119687 broad.mit.edu 37 11 4928619 4928619 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:4928619C>T ENST00000359350.4 + 1 20 c.20C>T c.(19-21)tCc>tTc p.S7F MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCAATAACTCCGAAGTCAAG 0.438000 6 36 0 0 0.307466 0 0 EP400NL 347918 broad.mit.edu 37 12 132593196 132593196 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:132593196C>T ENST00000376625.4 + 2 1390 c.1364C>T c.(1363-1365)gCg>gTg p.A455V EP400NL_ENST00000443539.2_Missense_Mutation_p.A323V|EP400NL_ENST00000389560.2_Missense_Mutation_p.A386V|EP400NL_ENST00000392352.1_Missense_Mutation_p.A323V|EP400NL_ENST00000361109.5_Missense_Mutation_p.A302V EP400 N-terminal like endometrium(1)|lung(1)|prostate(2)|urinary_tract(1) 5 AGGACTTCTGCGGCTTTTCCA 0.572000 4 2 0 0 0.184627 0 0 C1QC 714 broad.mit.edu 37 1 22974088 22974088 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:22974088C>T ENST00000374639.3 + 3 668 c.550C>T c.(550-552)Cgc>Tgc p.R184C C1QC_ENST00000374637.1_Missense_Mutation_p.R184C|C1QC_ENST00000374640.4_Missense_Mutation_p.R184C NM_001114101.1 NP_001107573.1 P02747 C1QC_HUMAN complement component 1, q subcomponent, C chain 184 C1q. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCTGCTGTACCGCAGCGGCGT 0.582000 35 86 0 0 0.812448 0 0 GPR137 56834 broad.mit.edu 37 11 64056655 64056655 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:64056655C>T ENST00000438980.2 + 7 1285 c.1178C>T c.(1177-1179)aCc>aTc p.T393I GPR137_ENST00000377702.4_Missense_Mutation_p.T343I|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P358S|GPR137_ENST00000411458.1_Missense_Mutation_p.P416S NM_001170880.1 NP_001164351.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 0 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 CTCTACTCCACCCCACAGACG 0.652000 38 78 0 0 0.864702 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834288 125834288 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:125834288C>T ENST00000299308.3 + 2 351 c.343C>T c.(343-345)Ccc>Tcc p.P115S TMEM132B_ENST00000418253.2_3'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 115 integral to membrane 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) GGACAAATTTCCCTTCAACTG 0.468000 63 79 0 0 0.870114 0 0 ZNF267 10308 broad.mit.edu 37 16 31926242 31926242 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:31926242C>T ENST00000300870.10 + 4 881 c.672C>T c.(670-672)acC>acT p.T224T RP11-170L3.8_ENST00000575471.1_RNA NM_001265588.1|NM_003414.5 NP_001252517.1|NP_003405.3 Q14586 ZN267_HUMAN zinc finger protein 267 224 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 CTGAAAAAACCTTGAACCAAA 0.299000 4 13 0 0 0.150653 0 0 FLG2 388698 broad.mit.edu 37 1 152326000 152326000 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:152326000C>T ENST00000388718.5 - 3 4334 c.4262G>A c.(4261-4263)gGa>gAa p.G1421E FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1421 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGCCAGATCCCCTTCTTCC 0.527000 109 249 0 0 0.870114 0 0 KDM3B 51780 broad.mit.edu 37 5 137756404 137756404 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:137756404C>T ENST00000314358.5 + 15 3925 c.3725C>T c.(3724-3726)tCc>tTc p.S1242F KDM3B_ENST00000542866.1_Missense_Mutation_p.S274F|KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Missense_Mutation_p.S898F NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1242 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GAAGCAGGGTCCCTGAGGTCG 0.463000 30 82 0 0 0.769981 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243542101 243542101 + Missense_Mutation SNP A A G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:243542101A>G ENST00000366541.3 + 13 1670 c.1552A>G c.(1552-1554)Aga>Gga p.R518G SDCCAG8_ENST00000343783.6_Missense_Mutation_p.R373G|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.R475G NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 518 Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) AGCCCTGGCCAGAGAGGAGTG 0.498000 23 84 0 0 0.667858 0 0 RPUSD4 84881 broad.mit.edu 37 11 126073526 126073526 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:126073526C>T ENST00000298317.4 - 7 974 c.921G>A c.(919-921)aaG>aaA p.K307K RPUSD4_ENST00000533628.1_Silent_p.K276K NM_032795.2 NP_116184.2 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 307 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) CTAGCCCCAGCTTCTTCAGGG 0.587000 9 35 0 0 0.361761 0 0 IL11 3589 broad.mit.edu 37 19 55877462 55877462 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:55877462G>A ENST00000264563.2 - 5 575 c.513C>T c.(511-513)atC>atT p.I171I IL11_ENST00000585513.1_Silent_p.I171I|IL11_ENST00000590625.1_Silent_p.I92I NM_000641.3 NP_000632.1 P20809 IL11_HUMAN interleukin 11 171 B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity|growth factor activity|interleukin-11 receptor binding large_intestine(1)|skin(1) 2 Breast(117;0.191) Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) Oprelvekin(DB00038) GGGCGGCCCTGATGCCCCCCC 0.741000 3 9 0 0 0.115264 0 0 EPHA4 2043 broad.mit.edu 37 2 222307568 222307568 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:222307568C>T ENST00000281821.2 - 11 2096 c.2055G>A c.(2053-2055)ttG>ttA p.L685L EPHA4_ENST00000409854.1_Silent_p.L685L|EPHA4_ENST00000409938.1_Silent_p.L685L|EPHA4_ENST00000392071.4_Silent_p.L634L NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 685 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CCACGCCTTCCAAGTGAATGA 0.453000 45 49 0 0 0.870114 0 0 DGKG 1608 broad.mit.edu 37 3 186006599 186006599 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:186006599G>A ENST00000265022.3 - 6 983 c.444C>T c.(442-444)gtC>gtT p.V148V DGKG_ENST00000544847.1_Silent_p.V148V|DGKG_ENST00000382164.4_Silent_p.V148V|DGKG_ENST00000344484.4_Silent_p.V148V NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 148 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) AAGACCGAGGGACGGGGGGTT 0.552000 108 224 0 0 0.870114 0 0 MED12 9968 broad.mit.edu 37 X 70348501 70348501 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:70348501C>T ENST00000333646.6 + 24 3607 c.3408C>T c.(3406-3408)atC>atT p.I1136I MED12_ENST00000374080.3_Silent_p.I1136I|MED12_ENST00000374102.1_Silent_p.I1136I NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1136 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CCATCCTCATCGCTCGGCAGT 0.498000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 50 0 0 0.387290 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581584 140581584 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:140581584C>T ENST00000354757.3 + 1 2237 c.2237C>T c.(2236-2238)tCc>tTc p.S746F PCDHB11_ENST00000536699.1_Missense_Mutation_p.S381F NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 746 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGACCCTTTCCCAGAGCTAC 0.577000 70 176 0 0 0.870114 0 0 LTBP3 4054 broad.mit.edu 37 11 65315017 65315017 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:65315017G>A ENST00000301873.5 - 14 2268 c.2000C>T c.(1999-2001)cCc>cTc p.P667L LTBP3_ENST00000532932.1_Missense_Mutation_p.P97L|LTBP3_ENST00000536982.1_Missense_Mutation_p.P293L|LTBP3_ENST00000322147.4_Missense_Mutation_p.P667L NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 667 Cys-rich.|EGF-like 5; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GCACAGGTGGGGCTTGGCGCA 0.657000 12 69 0 0 0.479597 0 0 INTS1 26173 broad.mit.edu 37 7 1524809 1524809 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:1524809G>A ENST00000389470.4 - 25 3671 c.3672C>T c.(3670-3672)acC>acT p.T1224T INTS1_ENST00000404767.3_Silent_p.T1062T Q8N201 INT1_HUMAN integrator complex subunit 1 1062 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) AGGCGCTGATGGTCTGGGGAT 0.662000 32 32 0 0 0.840704 0 0 CPNE6 9362 broad.mit.edu 37 14 24544723 24544723 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:24544723G>A ENST00000397016.2 + 10 1098 c.787G>A c.(787-789)Gac>Aac p.D263N CPNE6_ENST00000537691.1_Missense_Mutation_p.D318N|CPNE6_ENST00000216775.2_Missense_Mutation_p.D263N O95741 CPNE6_HUMAN copine VI (neuronal) 263 lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) GATGCAGTGGGACTGTATCAA 0.542000 7 8 0 0 0.278610 0 0 ASH1L 55870 broad.mit.edu 37 1 155348153 155348153 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:155348153G>A ENST00000368346.3 - 10 6905 c.6266C>T c.(6265-6267)tCt>tTt p.S2089F ASH1L_ENST00000392403.3_Missense_Mutation_p.S2084F Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2089 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 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) TTCGTAACCAGAAAGGGGTTT 0.408000 44 120 0 0 0.870114 0 0 SNX33 257364 broad.mit.edu 37 15 75941533 75941533 + Silent SNP T T C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:75941533T>C ENST00000308527.5 + 1 1287 c.90T>C c.(88-90)ttT>ttC p.F30F NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 30 SH3. cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 TGGTCATCTTTAGCGAGACCT 0.567000 65 134 0 0 0.870114 0 0 VAT1L 57687 broad.mit.edu 37 16 77850940 77850940 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:77850940G>A ENST00000302536.2 + 2 509 c.356G>A c.(355-357)gGa>gAa p.G119E NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 119 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 AGCGTGAAAGGATATGAGGTA 0.428000 49 138 0 0 0.870114 0 0 MYLK2 85366 broad.mit.edu 37 20 30412093 30412093 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:30412093G>A ENST00000375994.2 + 5 1183 c.910G>A c.(910-912)Gag>Aag p.E304K MYLK2_ENST00000375985.4_Missense_Mutation_p.E304K Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 304 Protein kinase. cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TACCTGCATGGAGAAAGCCAC 0.582000 7 40 0 0 0.335167 0 0 ITGB4 3691 broad.mit.edu 37 17 73728265 73728265 + Missense_Mutation SNP C C G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:73728265C>G ENST00000200181.3 + 12 1586 c.1399C>G c.(1399-1401)Cgc>Ggc p.R467G ITGB4_ENST00000579662.1_Missense_Mutation_p.R467G|ITGB4_ENST00000339591.3_Missense_Mutation_p.R467G|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.R467G|ITGB4_ENST00000449880.2_Missense_Mutation_p.R467G NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 467 Cysteine-rich tandem repeats. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCGGTCAGCTCGCTGCAGCTT 0.637000 74 33 0 0 0.870114 0 0 SUSD2 56241 broad.mit.edu 37 22 24583635 24583635 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr22:24583635C>T ENST00000358321.3 + 12 2249 c.1988C>T c.(1987-1989)cCc>cTc p.P663L NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 663 VWFD. immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 ACCTTCGAGCCCCTCTTCCCC 0.582000 34 82 0 0 0.812448 0 0 ANK3 288 broad.mit.edu 37 10 61832907 61832907 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:61832907C>T ENST00000280772.1 - 37 7923 c.7732G>A c.(7732-7734)Gac>Aac p.D2578N ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2578 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ACAGTCCTGTCCACCCTATCT 0.423000 3 68 0 0 0.150653 0 0 CARD11 84433 broad.mit.edu 37 7 2976769 2976769 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:2976769C>T ENST00000396946.4 - 9 1646 c.1243G>A c.(1243-1245)Gac>Aac p.D415N NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 415 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CTCATCTCGTCGTTCTTCTCC 0.577000 Mis DLBCL 26 78 0 0 0.750413 0 0 SHROOM2 357 broad.mit.edu 37 X 9862847 9862847 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:9862847C>T ENST00000380913.3 + 4 989 c.899C>T c.(898-900)cCa>cTa p.P300L NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 300 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) AATTTTGGGCCAGTCTGGTAT 0.622000 12 39 0 0 0.457914 0 0 PCDH15 65217 broad.mit.edu 37 10 55782888 55782888 + Missense_Mutation SNP G G A rs34553661 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:55782888G>A ENST00000373965.2 - 20 2705 c.2311C>T c.(2311-2313)Cgt>Tgt p.R771C PCDH15_ENST00000373955.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395438.1_Missense_Mutation_p.R764C|PCDH15_ENST00000409834.1_Missense_Mutation_p.R375C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.R693C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.R764C|PCDH15_ENST00000414778.1_Missense_Mutation_p.R769C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395432.2_Missense_Mutation_p.R727C|PCDH15_ENST00000395433.1_Missense_Mutation_p.R742C|PCDH15_ENST00000320301.6_Missense_Mutation_p.R764C|PCDH15_ENST00000395445.1_Missense_Mutation_p.R771C NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 764 Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GATGTGATACGAAAAAGATTA 0.368000 HNSCC(58;0.16) 18 24 0 0 0.575678 0 0 TPK1 27010 broad.mit.edu 37 7 144288542 144288542 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:144288542C>T ENST00000549981.1 - 9 847 c.124G>A c.(124-126)Gaa>Aaa p.E42K TPK1_ENST00000538212.2_Intron|TPK1_ENST00000360057.3_Missense_Mutation_p.E159K|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000547966.1_5'UTR Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 159 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) ATCAGCGATTCCTCTTGGATT 0.433000 43 154 0 0 0.870114 0 0 KRT6B 3854 broad.mit.edu 37 12 52845694 52845694 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:52845694C>T ENST00000252252.3 - 1 216 c.169G>A c.(169-171)Ggc>Agc p.G57S NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 57 Head. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) CTGCGGCTGCCAAAGCCAGCT 0.672000 30 140 0 0 0.788014 0 0 PRAMEF22 653606 broad.mit.edu 37 1 13036666 13036666 + Silent SNP T T C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:13036666T>C ENST00000376187.1 + 2 738 c.738T>C c.(736-738)cgT>cgC p.R246R PRAMEF6_ENST00000376192.5_Intron NM_001100631.1 NP_001094101.1 A3QJZ6 PRA22_HUMAN PRAME family member 22 246 kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 ATGGCTGTCGTTACCTGCTAA 0.473000 30 136 0 0 0.804634 0 0 TMC5 79838 broad.mit.edu 37 16 19474686 19474686 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:19474686C>T ENST00000396229.2 + 7 1982 c.1233C>T c.(1231-1233)tcC>tcT p.S411S TMC5_ENST00000564959.1_Silent_p.S94S|TMC5_ENST00000561503.1_Silent_p.S52S|TMC5_ENST00000542583.2_Silent_p.S411S|TMC5_ENST00000541464.1_Silent_p.S411S|TMC5_ENST00000381414.4_Silent_p.S411S|TMC5_ENST00000219821.5_Silent_p.S165S NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 411 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 ACTCCATTTCCCGGGTAAGTC 0.458000 31 88 0 0 0.796494 0 0 RHPN1 114822 broad.mit.edu 37 8 144462028 144462028 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:144462028G>A ENST00000289013.6 + 9 1076 c.975G>A c.(973-975)cgG>cgA p.R325R NM_052924.2 NP_443156.2 Q8TCX5 RHPN1_HUMAN rhophilin, Rho GTPase binding protein 1 325 BRO1. signal transduction intracellular endometrium(1)|large_intestine(1)|lung(7) 9 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) TAGTGCACCGGACCATGGCCC 0.667000 12 13 0 0 0.457914 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439781 145439781 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:145439781C>T ENST00000511217.1 + 8 1960 c.1908C>T c.(1906-1908)atC>atT p.I636I SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.I636I Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 636 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAAATGGCATCGAAAAGGTAG 0.483000 35 55 0 0 0.870114 0 0 ACSBG2 81616 broad.mit.edu 37 19 6187651 6187651 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:6187651G>A ENST00000588304.1 + 13 2018 c.1572G>A c.(1570-1572)ctG>ctA p.L524L ACSBG2_ENST00000252669.5_Silent_p.L574L|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Silent_p.L387L|ACSBG2_ENST00000586696.1_Silent_p.L574L|ACSBG2_ENST00000591403.1_Silent_p.L574L Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 574 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGGACAAGCTGAACTTCGAGG 0.592000 11 38 0 0 0.387290 0 0 ALPK3 57538 broad.mit.edu 37 15 85403135 85403135 + Splice_Site SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:85403135G>A ENST00000258888.5 + 8 4866 c.e8+1 NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGCCCTGAGGGTGAGTGTGCC 0.657000 50 110 0 0 0.870114 0 0 ZFAND4 93550 broad.mit.edu 37 10 46122313 46122313 + Missense_Mutation SNP C C A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:46122313C>A ENST00000374366.3 - 8 1201 c.736G>T c.(736-738)Gat>Tat p.D246Y ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000344646.5_Missense_Mutation_p.D320Y|ZFAND4_ENST00000374370.1_5'UTR Q86XD8 ANUB1_HUMAN zinc finger, AN1-type domain 4 320 zinc ion binding CAGCTATTATCTTCCTTAAGA 0.433000 30 28 5.45727e-16 5.56917e-16 0.729181 1 0 SPAM1 6677 broad.mit.edu 37 7 123593796 123593796 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:123593796G>A ENST00000340011.5 + 3 529 c.172G>A c.(172-174)Gaa>Aaa p.E58K SPAM1_ENST00000460182.1_Missense_Mutation_p.E58K|SPAM1_ENST00000402183.2_Missense_Mutation_p.E58K|SPAM1_ENST00000223028.7_Missense_Mutation_p.E58K|SPAM1_ENST00000439500.1_Missense_Mutation_p.E58K NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 58 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TGCCCCAAGTGAATTTTGTCT 0.448000 27 31 0 0 0.740014 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110432855 110432855 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:110432855C>T ENST00000378402.5 + 23 2737 c.2633C>T c.(2632-2634)tCt>tTt p.S878F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 878 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AACCAATATTCTGTTACCATG 0.368000 HNSCC(38;0.096) 36 88 0 0 0.847076 0 0 CD163 9332 broad.mit.edu 37 12 7654007 7654007 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:7654007C>T ENST00000359156.4 - 3 387 c.185G>A c.(184-186)gGg>gAg p.G62E CD163_ENST00000541972.1_Missense_Mutation_p.G50E|CD163_ENST00000396620.3_Missense_Mutation_p.G62E|CD163_ENST00000432237.2_Missense_Mutation_p.G62E NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 62 SRCR 1. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TTCCACTCTCCCGCTACACTT 0.502000 36 138 0 0 0.870114 0 0 FAM65C 140876 broad.mit.edu 37 20 49236604 49236604 + Missense_Mutation SNP G G A rs145939916 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:49236604G>A ENST00000327979.2 - 3 587 c.176C>T c.(175-177)aCg>aTg p.T59M FAM65C_ENST00000535356.1_Missense_Mutation_p.T63M|FAM65C_ENST00000045083.2_Missense_Mutation_p.T59M Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 59 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTTCCGCAGCGTGCCGTACAT 0.547000 24 100 0 0 0.717897 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171124 150171124 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:150171124C>T ENST00000307271.3 + 4 1281 c.707C>T c.(706-708)tCc>tTc p.S236F NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 236 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CAGCTGCAGTCCACAGGACCC 0.532000 48 145 0 0 0.870114 0 0 EPHA4 2043 broad.mit.edu 37 2 222307631 222307631 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:222307631C>T ENST00000281821.2 - 11 2033 c.1992G>A c.(1990-1992)agG>agA p.R664R EPHA4_ENST00000409854.1_Silent_p.R664R|EPHA4_ENST00000409938.1_Silent_p.R664R|EPHA4_ENST00000392071.4_Silent_p.R613R NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 664 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.R664S(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GGAAGTCTCTCCTCTGTTTGT 0.498000 55 47 0 0 0.870114 0 0 PRSS35 167681 broad.mit.edu 37 6 84234310 84234310 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr6:84234310G>A ENST00000536636.1 + 3 1495 c.1150G>A c.(1150-1152)Gac>Aac p.D384N PRSS35_ENST00000369700.3_Missense_Mutation_p.D384N NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 384 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GGTTCAGAAGGACTACAACGT 0.502000 10 31 0 0 0.387290 0 0 SLC17A1 6568 broad.mit.edu 37 6 25826725 25826725 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr6:25826725G>A ENST00000244527.4 - 3 286 c.171C>T c.(169-171)ccC>ccT p.P57P SLC17A1_ENST00000476801.1_Silent_p.P57P|SLC17A1_ENST00000468082.1_Silent_p.P57P|SLC17A1_ENST00000427328.1_Silent_p.P57P NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 57 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 TGGAGGTGTTGGGCAAACCAT 0.408000 59 134 0 0 0.870114 0 0 CACNA1E 777 broad.mit.edu 37 1 181741281 181741281 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:181741281C>T ENST00000526775.1 + 36 5161 c.4996C>T c.(4996-4998)Cca>Tca p.P1666S CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1685S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1617S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1685S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1292S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1636S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1666S NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1685 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CACCACCGCACCATCAGGGCA 0.552000 61 111 0 0 0.870114 0 0 CDH23 64072 broad.mit.edu 37 10 73550072 73550072 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:73550072C>T ENST00000224721.6 + 45 5971 c.5966C>T c.(5965-5967)cCc>cTc p.P1989L NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1984 Cadherin 19. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CTCAATGGGCCCATCCTGGCC 0.647000 12 24 0 0 0.411799 0 0 USH1G 124590 broad.mit.edu 37 17 72915642 72915642 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:72915642C>T ENST00000319642.1 - 2 1471 c.1289G>A c.(1288-1290)aGc>aAc p.S430N NM_173477.2 NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 430 SAM. equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) CAGTGGGACGCTGATGCTGCG 0.662000 20 28 0 0 0.608945 0 0 GUCY2C 2984 broad.mit.edu 37 12 14827575 14827575 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:14827575C>T ENST00000261170.3 - 8 1204 c.1068G>A c.(1066-1068)agG>agA p.R356R RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 356 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 AAGTGAGATTCCTGAAAGCAT 0.393000 87 94 0 0 0.870114 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94918016 94918016 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:94918016G>A ENST00000289495.5 + 17 3880 c.3664G>A c.(3664-3666)Gga>Aga p.G1222R PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G1024R|PPP1R9A_ENST00000456331.2_Intron|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G1024R|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G1300R|PPP1R9A_ENST00000424654.1_Intron NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 1024 cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GCAGTTGGATGGAAATAAACT 0.373000 HNSCC(28;0.073) 23 114 0 0 0.639603 0 0 TANGO6 79613 broad.mit.edu 37 16 68961870 68961870 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:68961870C>T ENST00000261778.1 + 13 2539 c.2527C>T c.(2527-2529)Ctt>Ttt p.L843F RP11-521L9.1_ENST00000562790.1_lincRNA NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) CCAAGAGGTTCTTTTGTCAGC 0.488000 10 10 0 0 0.435327 0 0 RIMS2 9699 broad.mit.edu 37 8 104709408 104709408 + Missense_Mutation SNP A A G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:104709408A>G ENST00000406091.3 + 2 271 c.271A>G c.(271-273)Acc>Gcc p.T91A NM_001100117.2 NP_001093587.1 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 122 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGATGCGCCAACCTGTGGTAT 0.448000 HNSCC(12;0.0054) 12 67 0 0 0.457914 0 0 MROH2B 133558 broad.mit.edu 37 5 41000422 41000422 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:41000422G>A ENST00000399564.4 - 39 4832 c.4382C>T c.(4381-4383)cCc>cTc p.P1461L MROH2B_ENST00000506092.2_Missense_Mutation_p.P1016L NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GCCCAAAAAGGGAATGCAGAC 0.483000 9 22 0 0 0.335167 0 0 SLC17A1 6568 broad.mit.edu 37 6 25826726 25826726 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr6:25826726G>A ENST00000244527.4 - 3 285 c.170C>T c.(169-171)cCc>cTc p.P57L SLC17A1_ENST00000476801.1_Missense_Mutation_p.P57L|SLC17A1_ENST00000468082.1_Missense_Mutation_p.P57L|SLC17A1_ENST00000427328.1_Missense_Mutation_p.P57L NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 57 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 GGAGGTGTTGGGCAAACCATG 0.408000 59 134 0 0 0.870114 0 0 NARG2 79664 broad.mit.edu 37 15 60728370 60728370 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:60728370C>T ENST00000261520.4 - 13 2716 c.2482G>A c.(2482-2484)Gaa>Aaa p.E828K NARG2_ENST00000439632.1_Missense_Mutation_p.E691K NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 828 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 TCTTTTAATTCTTCTGAGGTA 0.274000 8 20 0 0 0.387290 0 0 MRPS34 65993 broad.mit.edu 37 16 1822442 1822442 + Missense_Mutation SNP T T A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:1822442T>A ENST00000177742.3 - 3 488 c.458A>T c.(457-459)gAg>gTg p.E153V MRPS34_ENST00000397375.2_Missense_Mutation_p.E146V P82930 RT34_HUMAN mitochondrial ribosomal protein S34 146 mitochondrion|ribosome protein binding breast(1)|skin(2) 3 GGCCTCCTCCTCGTGCTTGGG 0.627000 36 114 0 0 0.827153 0 0 ZNF616 90317 broad.mit.edu 37 19 52627300 52627300 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:52627300C>T ENST00000600228.1 - 3 276 c.15G>A c.(13-15)ggG>ggA p.G5G ZNF616_ENST00000596290.1_Silent_p.G5G|ZNF616_ENST00000597013.1_Silent_p.G5G|ZNF616_ENST00000330123.5_Silent_p.G5G NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) ATGTCAAATGCCCCTGAAATG 0.403000 44 75 0 0 0.870114 0 0 GLCE 26035 broad.mit.edu 37 15 69548365 69548365 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:69548365G>A ENST00000261858.2 + 3 448 c.220G>A c.(220-222)Gag>Aag p.E74K GLCE_ENST00000559420.2_Missense_Mutation_p.E10K NM_015554.1 NP_056369.1 O94923 GLCE_HUMAN glucuronic acid epimerase 74 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 ACAACAGTCTGAGGAAGCATT 0.473000 29 92 0 0 0.779181 0 0 DMD 1756 broad.mit.edu 37 X 31747853 31747853 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:31747853C>T ENST00000357033.4 - 52 7761 c.7555G>A c.(7555-7557)Gat>Aat p.D2519N DMD_ENST00000359836.1_Missense_Mutation_p.D59N|DMD_ENST00000474231.1_Missense_Mutation_p.D59N|DMD_ENST00000343523.2_Missense_Mutation_p.D59N|DMD_ENST00000378677.2_Missense_Mutation_p.D2515N|DMD_ENST00000541735.1_Missense_Mutation_p.D59N|DMD_ENST00000378707.3_Missense_Mutation_p.D59N 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 2519 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 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) TGTTCCAAATCCTGCATTGTT 0.403000 22 85 0 0 0.717897 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256303 140256303 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:140256303G>A ENST00000398631.2 + 1 1246 c.1246G>A c.(1246-1248)Gag>Aag p.E416K PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGGACCGCGAGAGCGTGTC 0.612000 110 279 0 0 0.870114 0 0 AGTR2 186 broad.mit.edu 37 X 115304558 115304558 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:115304558G>A ENST00000371906.4 + 3 1215 c.1025G>A c.(1024-1026)gGg>gAg p.G342E NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 342 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 TGGCTCCAAGGGAAAAGAGAG 0.438000 34 69 0 0 0.796494 0 0 TLE4 7091 broad.mit.edu 37 9 82267548 82267548 + Missense_Mutation SNP T T G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr9:82267548T>G ENST00000376520.4 + 7 1259 c.431T>G c.(430-432)cTc>cGc p.L144R TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.L119R|TLE4_ENST00000376544.3_Missense_Mutation_p.L144R|TLE4_ENST00000376552.2_Missense_Mutation_p.L144R|TLE4_ENST00000376537.4_Missense_Mutation_p.L144R O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GGACATGGTCTCCCCGTACCT 0.552000 51 133 0 0 0.870114 0 0 CLCA3P 9629 broad.mit.edu 37 1 87104685 87104685 + RNA SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:87104685G>A ENST00000456587.1 - 0 294 CLCA3P_ENST00000466454.1_RNA AGACTGCCAAGGAATCCATTG 0.408000 25 68 0 0 0.750413 0 0 IGKV5-2 28907 broad.mit.edu 37 2 89197177 89197177 + RNA SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:89197177C>T ENST00000390244.2 + 0 285 CTACTACTCTCGTTCCTGGAA 0.423000 13 115 0 0 0.435327 0 0 GRXCR1 389207 broad.mit.edu 37 4 42965151 42965151 + Splice_Site SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:42965151G>A ENST00000399770.2 + 2 627 c.627_splice c.e2+1 p.G209_splice NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 209 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 ATTACCTTGGGGTAAGTAAGC 0.448000 121 244 0 0 0.870114 0 0 OR14I1 401994 broad.mit.edu 37 1 248844738 248844738 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:248844738G>A ENST00000342623.3 - 1 891 c.868C>T c.(868-870)Ctt>Ttt p.L290F NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 TTATTCCTAAGACTATATATG 0.388000 22 60 0 0 0.681144 0 0 IGHG3 3502 broad.mit.edu 37 14 106236037 106236037 + RNA SNP T T A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:106236037T>A ENST00000390551.2 - 0 766 CTGGGAGGGCTTTGTTGGAGA 0.592000 116 290 0 0 0.870114 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735521 140735521 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:140735521C>T ENST00000571252.1 + 1 754 c.754C>T c.(754-756)Cgt>Tgt p.R252C PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTAAGTGTTCGTGAGAACGT 0.507000 10 25 0 0 0.435327 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26873382 26873382 + Missense_Mutation SNP T T C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:26873382T>C ENST00000374168.2 + 3 287 c.133T>C c.(133-135)Tcc>Ccc p.S45P RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S29P|RPS6KA1_ENST00000526792.1_5'UTR|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S45P|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S54P NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 45 axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CAAGGAGATCTCCATCACGCA 0.597000 15 25 0 0 0.575678 0 0 MXRA5 25878 broad.mit.edu 37 X 3235706 3235706 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:3235706C>T ENST00000217939.6 - 6 6170 c.6016G>A c.(6016-6018)Gaa>Aaa p.E2006K NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2006 Ig-like C2-type 4. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTCCGGTTTTCGTGCAGGGTG 0.622000 12 32 0 0 0.411799 0 0 CRTAC1 55118 broad.mit.edu 37 10 99664443 99664443 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:99664443C>T ENST00000370597.3 - 7 1334 c.979G>A c.(979-981)Ggg>Agg p.G327R CRTAC1_ENST00000370591.2_Missense_Mutation_p.G327R|CRTAC1_ENST00000298819.4_Missense_Mutation_p.G327R NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 327 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) CGGACCTTCCCATGGGTGCTC 0.537000 36 42 0 0 0.796494 0 0 GLB1L2 89944 broad.mit.edu 37 11 134212729 134212729 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:134212729G>A ENST00000535456.2 + 2 356 c.168G>A c.(166-168)ctG>ctA p.L56L GLB1L2_ENST00000339772.7_Silent_p.L56L|GLB1L2_ENST00000389881.3_Silent_p.L56L NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 56 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) ACTTCATGCTGGAGGATTCCA 0.602000 11 68 0 0 0.361761 0 0 LRRC37A16P 651250 broad.mit.edu 37 17 66131364 66131364 + RNA SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:66131364C>T ENST00000590019.1 - 0 298 TCCAGGGAGTCCTTCACCTCT 0.572000 11 6 0 0 0.479597 0 0 DDX50 79009 broad.mit.edu 37 10 70695789 70695789 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:70695789C>T ENST00000373585.3 + 11 1656 c.1549C>T c.(1549-1551)Cct>Tct p.P517S DDX50_ENST00000466265.1_3'UTR NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 517 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 TGTAGGTGTTCCTTCTACAAT 0.289000 19 23 0 0 0.608945 0 0 OR5L1 219437 broad.mit.edu 37 11 55579489 55579489 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:55579489C>T ENST00000333973.2 + 1 636 c.547C>T c.(547-549)Cct>Tct p.P183S NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TGATCTACCTCCTGTCTTAAG 0.433000 37 193 0 0 0.827153 0 0 SPEN 23013 broad.mit.edu 37 1 16257505 16257505 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:16257505C>T ENST00000375759.3 + 11 4974 c.4770C>T c.(4768-4770)ctC>ctT p.L1590L NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1590 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TTATGGAGCTCACACGGATGC 0.443000 13 24 0 0 0.435327 0 0 TRAV27 28655 broad.mit.edu 37 14 22616536 22616536 + RNA SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:22616536C>T ENST00000390457.2 + 0 374 CAGTTCTCTCCACATCACTGC 0.547000 16 59 0 0 0.608945 0 0 ABCB5 340273 broad.mit.edu 37 7 20778686 20778686 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:20778686C>T ENST00000404938.2 + 24 3600 c.2948C>T c.(2947-2949)tCg>tTg p.S983L ABCB5_ENST00000258738.6_Missense_Mutation_p.S538L NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 538 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 AAAGCCAAATCGGGGGCTGCG 0.423000 11 38 0 0 0.457914 0 0 CETN2 1069 broad.mit.edu 37 X 151997732 151997732 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:151997732C>T ENST00000370277.3 - 3 318 c.252G>A c.(250-252)atG>atA p.M84I CETN2_ENST00000493482.1_5'UTR NM_004344.1 NP_004335.1 P41208 CETN2_HUMAN centrin, EF-hand protein, 2 84 EF-hand 2. cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis centriole|cytosol|XPC complex ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(1)|lung(4)|prostate(1)|skin(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) CACCAAAGTTCATTTTTCCTG 0.408000 Direct reversal of damage;Nucleotide excision repair (NER) 27 90 0 0 0.760397 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64602625 64602625 + Splice_Site SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:64602625G>A ENST00000342711.5 - 17 1953 c.1953_splice c.e17-1 p.L652_splice NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 652 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 TCTGCTTCTAGCTGGGGCCGG 0.687000 10 20 0 0 0.411799 0 0 LRRC7 57554 broad.mit.edu 37 1 70494040 70494040 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:70494040G>A ENST00000310961.5 + 19 2300 c.1882G>A c.(1882-1884)Gag>Aag p.E628K LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.E623K|RP11-181B18.1_ENST00000414132.1_RNA Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 623 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGCCCCAAAGGAGATTACAGT 0.393000 13 26 0 0 0.500413 0 0 CASR 846 broad.mit.edu 37 3 122003352 122003352 + Missense_Mutation SNP T T G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:122003352T>G ENST00000498619.1 + 7 3019 c.2581T>G c.(2581-2583)Tgc>Ggc p.C861G CASR_ENST00000296154.5_Missense_Mutation_p.C851G|CASR_ENST00000490131.1_Missense_Mutation_p.C851G NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 851 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTTGCTGGCGTGCATCTTCTT 0.542000 19 35 0 0 0.608945 0 0 MYO7A 4647 broad.mit.edu 37 11 76893570 76893570 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:76893570G>A ENST00000409709.3 + 25 3482 c.3210G>A c.(3208-3210)gtG>gtA p.V1070V MYO7A_ENST00000458637.2_Silent_p.V1070V|MYO7A_ENST00000409893.1_Silent_p.V1070V|MYO7A_ENST00000409619.2_Silent_p.V1059V NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1070 MyTH4 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGATCCCTGTGATGACCAAGA 0.602000 14 31 0 0 0.520397 0 0 SLC22A9 114571 broad.mit.edu 37 11 63141459 63141459 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:63141459C>T ENST00000279178.3 + 4 1004 c.755C>T c.(754-756)gCt>gTt p.A252V SLC22A9_ENST00000310969.4_Silent_p.G200G NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 252 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 GCAGGCCTGGCTTTTGCCATT 0.483000 4 28 0 0 0.217242 0 0 LDLR 3949 broad.mit.edu 37 19 11224428 11224428 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:11224428C>T ENST00000558518.1 + 10 1763 c.1576C>T c.(1576-1578)Cct>Tct p.P526S LDLR_ENST00000455727.2_Missense_Mutation_p.P358S|LDLR_ENST00000557933.1_Missense_Mutation_p.P526S|LDLR_ENST00000535915.1_Missense_Mutation_p.P485S|LDLR_ENST00000545707.1_Missense_Mutation_p.P399S|LDLR_ENST00000558013.1_Missense_Mutation_p.P526S NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 526 P -> S (in Cincinnati-3). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.P526S(1)|p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CGTGGTGGATCCTGTTCATGG 0.582000 23 40 0 0 0.681144 0 0 EFHC2 80258 broad.mit.edu 37 X 44037711 44037711 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:44037711C>T ENST00000420999.1 - 12 1934 c.1851G>A c.(1849-1851)atG>atA p.M617I EFHC2_ENST00000343571.3_5'UTR NM_025184.3 NP_079460.2 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 617 calcium ion binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 TTAAGAAATCCATATCTGAAC 0.398000 10 12 0 0 0.361761 0 0 LNX1 84708 broad.mit.edu 37 4 54373514 54373514 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:54373514C>T ENST00000306888.2 - 3 708 c.457G>A c.(457-459)Gaa>Aaa p.E153K FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000510785.1_RNA|LNX1_ENST00000263925.7_Missense_Mutation_p.E249K|LNX1-AS1_ENST00000511989.1_RNA|LNX1-AS1_ENST00000514364.1_RNA NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 249 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) TCAGAATTTTCCCTGCCCTGG 0.488000 24 83 0 0 0.706142 0 0 WSCD2 9671 broad.mit.edu 37 12 108589650 108589650 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:108589650G>A ENST00000332082.4 + 3 859 c.41G>A c.(40-42)cGg>cAg p.R14Q WSCD2_ENST00000547525.1_Missense_Mutation_p.R14Q|WSCD2_ENST00000261400.3_Missense_Mutation_p.R14Q|WSCD2_ENST00000549903.1_Missense_Mutation_p.R14Q Q2TBF2 WSCD2_HUMAN WSC domain containing 2 14 integral to membrane p.R14Q(1)|p.R14L(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 TACTTCCGCCGGAAACCTGTG 0.592000 42 77 0 0 0.847076 0 0 LGALS9C 654346 broad.mit.edu 37 17 18389403 18389403 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:18389403G>A ENST00000328114.6 + 3 368 c.287G>A c.(286-288)gGg>gAg p.G96E LGALS9C_ENST00000412421.2_Missense_Mutation_p.G8E|LGALS9C_ENST00000584941.1_Missense_Mutation_p.G96E|LGALS9C_ENST00000581545.1_Missense_Mutation_p.G96E|LGALS9C_ENST00000583322.1_Missense_Mutation_p.G96E|LGALS9C_ENST00000578983.1_3'UTR NM_001040078.2 NP_001035167.2 Q6DKI2 LEG9C_HUMAN lectin, galactoside-binding, soluble, 9C 96 Galectin 1. sugar binding NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 7 TTCCAGAAGGGGATGCCCTTT 0.582000 34 14 0 0 0.870114 0 0 WNK3 65267 broad.mit.edu 37 X 54360030 54360030 + Missense_Mutation SNP A A G rs146463327 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:54360030A>G ENST00000354646.2 - 2 515 c.77T>C c.(76-78)gTt>gCt p.V26A WNK3_ENST00000375159.2_Missense_Mutation_p.V26A|WNK3_ENST00000375169.3_Missense_Mutation_p.V26A NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 26 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GACCTGGGGAACTCTGTTTTC 0.418000 23 44 0 0 0.654019 0 0 HCRTR2 3062 broad.mit.edu 37 6 55147031 55147031 + Nonsense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr6:55147031C>T ENST00000370862.3 + 7 1450 c.1114C>T c.(1114-1116)Cga>Tga p.R372* NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 372 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AGGAAAATTTCGAGAGGAATT 0.453000 12 14 0 0 0.411799 0 0 FRMPD4 9758 broad.mit.edu 37 X 12627853 12627853 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:12627853G>A ENST00000380682.1 + 3 678 c.172G>A c.(172-174)Gca>Aca p.A58T NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 58 WW. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CATGACACAGGCAATCCCTTT 0.478000 14 83 0 0 0.479597 0 0 CACNA1E 777 broad.mit.edu 37 1 181762921 181762921 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:181762921G>A ENST00000357570.5 + 45 6184 c.5872G>A c.(5872-5874)Gat>Aat p.D1958N CACNA1E_ENST00000367573.2_Missense_Mutation_p.D2007N|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1988N Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2007 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TCTGACTGTGGATCCCCAGGT 0.507000 11 24 0 0 0.457914 0 0 TCEAL5 340543 broad.mit.edu 37 X 102529150 102529150 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:102529150C>T ENST00000372680.1 - 3 636 c.342G>A c.(340-342)cgG>cgA p.R114R NM_001012979.2 NP_001012997.1 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TTTTTGCTTTCCGGGGCACAT 0.582000 18 100 0 0 0.557998 0 0 ZP4 57829 broad.mit.edu 37 1 238048799 238048799 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:238048799G>A ENST00000366570.4 - 8 1210 c.1052C>T c.(1051-1053)tCc>tTc p.S351F RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 351 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GTGAAGGATGGAGACCTCCAC 0.532000 14 44 0 0 0.520397 0 0 PDE9A 5152 broad.mit.edu 37 21 44151974 44151974 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr21:44151974G>A ENST00000291539.6 + 5 417 c.357G>A c.(355-357)agG>agA p.R119R PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000328862.6_Silent_p.R93R|PDE9A_ENST00000398225.3_Silent_p.R78R|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398232.3_Silent_p.R52R NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 119 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 AGCCCCGGAGGGAAGGAGCAT 0.622000 25 29 0 0 0.717897 0 0 FAM104B 90736 broad.mit.edu 37 X 55172572 55172572 + Missense_Mutation SNP G G A rs111573608 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:55172572G>A ENST00000425133.2 - 3 334 c.296C>T c.(295-297)aCc>aTc p.T99I FAM104B_ENST00000477847.2_Missense_Mutation_p.T95I|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000489298.1_Missense_Mutation_p.T97I|FAM104B_ENST00000358460.4_Intron NM_001166700.1|NM_001166701.1|NM_001166704.1 NP_001160172.1|NP_001160173.1|NP_001160176.1 Q5XKR9 F104B_HUMAN family with sequence similarity 104, member B 0 endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 CTCCTTCAAGGTCTGGTTGAT 0.448000 3 69 0 0 0.248553 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603272 138603272 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:138603272G>A ENST00000440172.1 - 2 1148 c.1100C>T c.(1099-1101)gCa>gTa p.A367V KIAA1549_ENST00000242365.4_Missense_Mutation_p.A317V|KIAA1549_ENST00000422774.1_Missense_Mutation_p.A367V NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 367 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GGACGCAAATGCAAGAGGAGT 0.498000 O BRAF pilocytic astrocytoma 5 203 0 0 0.217242 0 0 SEPT6 23157 broad.mit.edu 37 X 118754005 118754005 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:118754005G>A ENST00000354416.3 - 10 1554 c.1290C>T c.(1288-1290)ttC>ttT p.F430F SEPT6_ENST00000394610.1_3'UTR|SEPT6_ENST00000489216.1_Intron|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000354228.4_Intron|SEPT6_ENST00000360156.7_Intron|SEPT6_ENST00000343984.5_Intron Q14141 SEPT6_HUMAN septin 6 0 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 GTGTCTACAGGAAGCCCAAAC 0.433000 T MLL AML 5 37 0 0 0.184627 0 0 ARAP2 116984 broad.mit.edu 37 4 36162133 36162133 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:36162133C>T ENST00000303965.4 - 13 2879 c.2390G>A c.(2389-2391)gGa>gAa p.G797E NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 797 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TCTGAATTTTCCTTCTTTATA 0.299000 4 9 0 0 0.217242 0 0 UNC13C 440279 broad.mit.edu 37 15 54305220 54305220 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:54305220G>A ENST00000545554.1 + 1 120 c.120G>A c.(118-120)aaG>aaA p.K40K UNC13C_ENST00000260323.11_Silent_p.K40K|UNC13C_ENST00000537900.1_Silent_p.K40K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 40 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGCAGAAAAAGGATCAAGACT 0.368000 21 78 0 0 0.624587 0 0 CDC14A 8556 broad.mit.edu 37 1 100961573 100961573 + Missense_Mutation SNP A A C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:100961573A>C ENST00000336454.3 + 13 1621 c.1266A>C c.(1264-1266)aaA>aaC p.K422N CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.K422N|CDC14A_ENST00000542213.1_Missense_Mutation_p.K364N|CDC14A_ENST00000544534.1_Missense_Mutation_p.K422N NM_003672.3 NP_003663.2 Q9UNH5 CC14A_HUMAN cell division cycle 14A 422 cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) ATGATACAAAAGGACATCCAA 0.433000 35 88 0 0 0.853193 0 0 LYPD4 147719 broad.mit.edu 37 19 42342324 42342324 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:42342324C>T ENST00000330743.3 - 4 1434 c.223G>A c.(223-225)Gga>Aga p.G75R LYPD4_ENST00000343055.4_Missense_Mutation_p.G40R|LYPD4_ENST00000601246.1_Missense_Mutation_p.G40R NM_173506.4 NP_775777.3 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 75 anchored to membrane|plasma membrane breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2) 12 CCCACAACTCCCCTTGCAGTC 0.582000 7 25 0 0 0.278610 0 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:7578263G>A ENST00000420246.2 - 6 718 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 196 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTCCACTCGGATAAGATGC 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 28 23 0 0 0.812448 0 0 DNAH5 1767 broad.mit.edu 37 5 13859595 13859595 + Missense_Mutation SNP A A C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:13859595A>C ENST00000265104.4 - 30 5020 c.4916T>G c.(4915-4917)tTt>tGt p.F1639C NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1639 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCCTCCCACAAAGACAGCTTC 0.443000 Kartagener syndrome 34 62 0 0 0.819951 0 0 ZNF267 10308 broad.mit.edu 37 16 31926241 31926241 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:31926241C>T ENST00000300870.10 + 4 880 c.671C>T c.(670-672)aCc>aTc p.T224I RP11-170L3.8_ENST00000575471.1_RNA NM_001265588.1|NM_003414.5 NP_001252517.1|NP_003405.3 Q14586 ZN267_HUMAN zinc finger protein 267 224 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 TCTGAAAAAACCTTGAACCAA 0.299000 4 14 0 0 0.150653 0 0 CYP8B1 1582 broad.mit.edu 37 3 42916897 42916897 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:42916897C>T ENST00000316161.4 - 1 736 c.412G>A c.(412-414)Gat>Aat p.D138N KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.D138N|ACKR2_ENST00000471537.1_Intron NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 138 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) TCATTAAGATCCTTCAAGCCA 0.517000 31 61 0 0 0.796494 0 0 STIL 6491 broad.mit.edu 37 1 47737845 47737845 + Silent SNP T T C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:47737845T>C ENST00000360380.3 - 14 2649 c.2286A>G c.(2284-2286)acA>acG p.T762T STIL_ENST00000396221.2_Silent_p.T762T|STIL_ENST00000337817.5_Silent_p.T762T|STIL_ENST00000371877.3_Silent_p.T762T|STIL_ENST00000243182.6_Silent_p.T762T Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 762 PIN1-binding (By similarity). cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) CAGCTTGCACTGTGTCTTCAA 0.448000 3 81 0 0 0.150653 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122348818 122348818 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:122348818C>T ENST00000398250.1 + 7 972 c.620C>T c.(619-621)tCc>tTc p.S207F PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.S197F|PPAPDC1A_ENST00000398248.1_Missense_Mutation_p.P57S|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.S144F NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 207 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) TGCCTAGATTCCTTTGTGGGT 0.443000 44 64 0 0 0.870114 0 0 PEAR1 375033 broad.mit.edu 37 1 156874639 156874639 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:156874639G>A ENST00000338302.3 + 4 426 c.201G>A c.(199-201)caG>caA p.Q67Q PEAR1_ENST00000292357.7_Silent_p.Q67Q Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 67 EMI. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTTGCCCCCAGCCCACGTGAG 0.652000 17 35 0 0 0.557998 0 0 TXLNB 167838 broad.mit.edu 37 6 139564218 139564218 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr6:139564218C>T ENST00000358430.3 - 10 1732 c.1500G>A c.(1498-1500)gtG>gtA p.V500V RP1-225E12.3_ENST00000585874.1_RNA NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 500 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) CCAGATTTTTCACGGCGGTTT 0.488000 51 151 0 0 0.870114 0 0 PCLO 27445 broad.mit.edu 37 7 82580115 82580115 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:82580115C>T ENST00000423517.2 - 6 10126 c.9789G>A c.(9787-9789)atG>atA p.M3263I PCLO_ENST00000333891.8_Missense_Mutation_p.M3263I NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3194 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGTGTTGCTTCATAGACTGCA 0.473000 32 122 0 0 0.796494 0 0 GPR137 56834 broad.mit.edu 37 11 64056654 64056654 + Missense_Mutation SNP A A C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:64056654A>C ENST00000438980.2 + 7 1284 c.1177A>C c.(1177-1179)Acc>Ccc p.T393P GPR137_ENST00000377702.4_Missense_Mutation_p.T343P|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000313074.3_Silent_p.P357P|GPR137_ENST00000411458.1_Silent_p.P415P NM_001170880.1 NP_001164351.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 0 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 TCTCTACTCCACCCCACAGAC 0.657000 37 77 0 0 0.870114 0 0 PTPN5 84867 broad.mit.edu 37 11 18754841 18754841 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:18754841C>T ENST00000396170.1 - 11 2327 c.1063G>A c.(1063-1065)Gtg>Atg p.V355M RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396171.4_Missense_Mutation_p.V387M|PTPN5_ENST00000358540.2_Missense_Mutation_p.V387M|PTPN5_ENST00000396167.2_Missense_Mutation_p.V355M|PTPN5_ENST00000477854.1_Missense_Mutation_p.V191M|PTPN5_ENST00000396168.1_Missense_Mutation_p.V363M NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 387 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 TCCTGCCACACCATGCGCCAG 0.597000 44 86 0 0 0.870114 0 0 FARP1 10160 broad.mit.edu 37 13 99047569 99047569 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr13:99047569C>T ENST00000376586.2 + 13 1589 c.1253C>T c.(1252-1254)tCc>tTc p.S418F FARP1_ENST00000595437.1_Missense_Mutation_p.S418F|FARP1_ENST00000319562.6_Missense_Mutation_p.S418F Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 418 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CCGAAGGTTTCCGCCGGGGAG 0.687000 10 31 0 0 0.387290 0 0 FSD1 79187 broad.mit.edu 37 19 4317241 4317241 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:4317241G>A ENST00000221856.6 + 8 910 c.763G>A c.(763-765)Gga>Aga p.G255R FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.G255R NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 255 Fibronectin type-III. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) GGCAGTTGCAGGAGAGTTCTC 0.517000 23 70 0 0 0.667858 0 0 FGF21 26291 broad.mit.edu 37 19 49259604 49259604 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:49259604C>T ENST00000593756.1 + 2 683 c.111C>T c.(109-111)ctC>ctT p.L37L FGF21_ENST00000222157.3_Silent_p.L37L Q9NSA1 FGF21_HUMAN fibroblast growth factor 21 37 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) CCAGTCCTCTCCTGCAATTCG 0.627000 18 38 0 0 0.575678 0 0 DSG1 1828 broad.mit.edu 37 18 28914104 28914104 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr18:28914104G>A ENST00000257192.4 + 8 1156 c.944G>A c.(943-945)gGa>gAa p.G315E NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 315 Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GGAAATGAAGGAAATTGGTTT 0.299000 21 61 0 0 0.608945 0 0 OR52J3 119679 broad.mit.edu 37 11 5068032 5068032 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:5068032G>A ENST00000380370.1 + 1 277 c.277G>A c.(277-279)Gag>Aag p.E93K NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E93K(1) NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TGATGCTCACGAGATTAACTA 0.488000 16 41 0 0 0.575678 0 0 ACAN 176 broad.mit.edu 37 15 89414753 89414753 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:89414753G>A ENST00000439576.2 + 14 7461 c.7087G>A c.(7087-7089)Gag>Aag p.E2363K ACAN_ENST00000352105.7_Missense_Mutation_p.E2325K|ACAN_ENST00000561243.1_Missense_Mutation_p.E2363K|ACAN_ENST00000559004.1_Missense_Mutation_p.E2325K NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2363 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CACCCCCGAGGAGCAGGAGTT 0.632000 13 41 0 0 0.435327 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77465333 77465333 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:77465333C>T ENST00000282849.5 - 3 772 c.354G>A c.(352-354)ttG>ttA p.L118L ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 118 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 AGTGACTGCTCAAAATCGCCG 0.473000 52 102 0 0 0.870114 0 0 POLI 11201 broad.mit.edu 37 18 51820391 51820391 + Missense_Mutation SNP C C G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr18:51820391C>G ENST00000579534.1 + 10 1920 c.1777C>G c.(1777-1779)Cag>Gag p.Q593E POLI_ENST00000406285.3_Missense_Mutation_p.Q514E|POLI_ENST00000579434.1_Missense_Mutation_p.Q490E|POLI_ENST00000217800.5_Missense_Mutation_p.Q467E NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 593 Ser-rich. DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) CAGTAGCAAACAGGTATCCTC 0.348000 DNA polymerases (catalytic subunits) 13 40 0 0 0.500413 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47630414 47630414 + Missense_Mutation SNP T T C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:47630414T>C ENST00000371917.4 + 30 4096 c.4096T>C c.(4096-4098)Ttt>Ctt p.F1366L NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1366 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TGGCCACACCTTTGAAAAGCA 0.458000 31 65 0 0 0.779181 0 0 OAS2 4939 broad.mit.edu 37 12 113445518 113445518 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:113445518G>A ENST00000392583.2 + 9 1872 c.1665G>A c.(1663-1665)agG>agA p.R555R RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.R555R NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 555 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 AGTGTGAAAGGAAACTGAAGC 0.542000 26 102 0 0 0.760397 0 0 KDM5A 5927 broad.mit.edu 37 12 406238 406238 + Silent SNP A A G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:406238A>G ENST00000399788.2 - 25 4565 c.4203T>C c.(4201-4203)gcT>gcC p.A1401A KDM5A_ENST00000382815.4_Silent_p.A1401A NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1401 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 CAGAAGAATAAGCATGCTCTG 0.398000 T NUP98 AML 26 22 0 0 0.740014 0 0 FGFR2 2263 broad.mit.edu 37 10 123298164 123298164 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:123298164G>A ENST00000358487.5 - 6 962 c.690C>T c.(688-690)acC>acT p.T230T FGFR2_ENST00000360144.3_Silent_p.T141T|FGFR2_ENST00000369060.4_Silent_p.T230T|FGFR2_ENST00000369056.1_Silent_p.T230T|FGFR2_ENST00000356226.4_Silent_p.T115T|FGFR2_ENST00000369061.4_Silent_p.T230T|FGFR2_ENST00000359354.2_Silent_p.T230T|FGFR2_ENST00000457416.2_Silent_p.T230T|FGFR2_ENST00000351936.6_Silent_p.T230T|FGFR2_ENST00000346997.2_Silent_p.T230T|FGFR2_ENST00000357555.5_Silent_p.T141T|FGFR2_ENST00000369059.1_Silent_p.T115T|FGFR2_ENST00000490349.1_5'UTR NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 230 Ig-like C2-type 2. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CCACTACACAGGTATAATTTC 0.483000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 25 30 0 0 0.740014 0 0 CNKSR1 10256 broad.mit.edu 37 1 26514795 26514795 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:26514795G>A ENST00000531191.1 + 16 1758 c.751G>A c.(751-753)Gaa>Aaa p.E251K CNKSR1_ENST00000374253.5_Missense_Mutation_p.E516K|CNKSR1_ENST00000361530.6_Missense_Mutation_p.E509K Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 516 PDZ. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) ACCCCGAGAGGAAGGTAGGTG 0.607000 19 49 0 0 0.654019 0 0 CCDC27 148870 broad.mit.edu 37 1 3673334 3673334 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:3673334C>T ENST00000294600.2 + 4 675 c.591C>T c.(589-591)ttC>ttT p.F197F NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 197 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TCTGCGAGTTCGATTACTTGC 0.567000 27 60 0 0 0.796494 0 0 KLK14 43847 broad.mit.edu 37 19 51582886 51582886 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:51582886G>A ENST00000391802.1 - 5 552 c.334C>T c.(334-336)Cgt>Tgt p.R112C KLK14_ENST00000156499.2_Missense_Mutation_p.R112C NM_022046.4 NP_071329.2 Q9P0G3 KLK14_HUMAN kallikrein-related peptidase 14 112 Peptidase S1. epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) GTCACCTGACGAACCACGCGC 0.652000 9 17 0 0 0.335167 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907317 12907317 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:12907317C>T ENST00000317869.6 - 2 1051 c.826G>A c.(826-828)Gag>Aag p.E276K NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TCCTCAGCCTCTTTTTCATCA 0.488000 42 122 0 0 0.870114 0 0 RGS18 64407 broad.mit.edu 37 1 192153620 192153620 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:192153620G>A ENST00000367460.3 + 5 825 c.644G>A c.(643-645)cGa>cAa p.R215Q NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 215 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTTAGGAGACGATCACGCTCA 0.358000 33 54 0 0 0.827153 0 0 NWD1 284434 broad.mit.edu 37 19 16910771 16910771 + Silent SNP C C A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:16910771C>A ENST00000524140.2 + 17 3952 c.3534C>A c.(3532-3534)gcC>gcA p.A1178A NWD1_ENST00000552788.1_Silent_p.A1178A|NWD1_ENST00000523826.1_Silent_p.A972A|NWD1_ENST00000379808.3_Silent_p.A1178A|NWD1_ENST00000339803.6_Silent_p.A1043A|NWD1_ENST00000549814.1_Intron NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1178 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCCTGCTGGCCCGCGGCGGGG 0.622000 16 52 2.37509e-13 2.41998e-13 0.592651 1 0 REG3A 5068 broad.mit.edu 37 2 79385524 79385524 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:79385524G>A ENST00000393878.1 - 3 515 c.261C>T c.(259-261)ttC>ttT p.F87F REG3A_ENST00000305165.2_Silent_p.F87F|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Silent_p.F87F NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 87 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 GGGAGGACACGAAGGATCCCT 0.562000 18 79 0 0 0.624587 0 0 WDR62 284403 broad.mit.edu 37 19 36595489 36595489 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:36595489C>T ENST00000401500.2 + 31 4258 c.4223C>T c.(4222-4224)cCc>cTc p.P1408L WDR62_ENST00000270301.7_Missense_Mutation_p.P1403L NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 1403 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GAAGCCCTGCCCCCATCTCCC 0.607000 27 39 0 0 0.693898 0 0 CDH1 999 broad.mit.edu 37 16 68853245 68853245 + Missense_Mutation SNP C C T rs148400889 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:68853245C>T ENST00000261769.5 + 11 1819 c.1628C>T c.(1627-1629)tCc>tTc p.S543F CDH1_ENST00000422392.2_Missense_Mutation_p.S482F|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 543 Cadherin 4. S -> F (in Ref. 2; CAA79356). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(1) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GGTGCCATTTCCACTCGGGCT 0.512000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 34 58 0 0 0.812448 0 0 FAT2 2196 broad.mit.edu 37 5 150914116 150914116 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:150914116G>A ENST00000261800.5 - 12 9293 c.9281C>T c.(9280-9282)tCg>tTg p.S3094L NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3094 Cadherin 27. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCCTGGCACGATCGGCCACC 0.577000 39 69 0 0 0.870114 0 0 GAPT 202309 broad.mit.edu 37 5 57790634 57790634 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:57790634G>A ENST00000396776.2 + 3 733 c.271G>A c.(271-273)Gac>Aac p.D91N GAPT_ENST00000318469.2_Missense_Mutation_p.D91N NM_152687.2 NP_689900.1 Q8N292 GAPT_HUMAN GRB2-binding adaptor protein, transmembrane 91 B cell activation integral to membrane|plasma membrane NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 TAACACACACGACAACTATGA 0.428000 20 42 0 0 0.639603 0 0 CLVS1 157807 broad.mit.edu 37 8 62212522 62212522 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:62212522C>T ENST00000519846.1 + 3 608 c.136C>T c.(136-138)Ccc>Tcc p.P46S CLVS1_ENST00000325897.4_Missense_Mutation_p.P46S|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 46 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GAATGAAAACCCCGATGTTTT 0.448000 6 55 0 0 0.217242 0 0 CNTN3 5067 broad.mit.edu 37 3 74347312 74347312 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:74347312C>T ENST00000263665.6 - 17 2224 c.2197G>A c.(2197-2199)Ggt>Agt p.G733S NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 733 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TACCCAAAACCTTCACCATTC 0.458000 15 40 0 0 0.539581 0 0 ZRSR1 7310 broad.mit.edu 37 5 112227939 112227939 + Silent SNP T T C rs712666 by1000genomes TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:112227939T>C ENST00000391338.1 + 1 627 c.603T>C c.(601-603)tcT>tcC p.S201S REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000504247.1_Intron NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 p.S201S(1) breast(1)|skin(1)|stomach(2) 4 TCCCAACATCTAGTCCTACCC 0.453000 3 123 0 0 0.115264 0 0 ADAM2 2515 broad.mit.edu 37 8 39604026 39604026 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:39604026C>T ENST00000265708.4 - 19 2242 c.2139G>A c.(2137-2139)agG>agA p.R713R ADAM2_ENST00000521880.1_Silent_p.R650R|ADAM2_ENST00000347580.4_Silent_p.R694R|ADAM2_ENST00000379853.2_Silent_p.R557R NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 713 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TCCATTTTTTCCTTTGGAAAT 0.284000 32 62 0 0 0.840704 0 0 AZGP1 563 broad.mit.edu 37 7 99569492 99569492 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:99569492C>T ENST00000411734.1 - 2 210 c.205G>A c.(205-207)Gga>Aga p.G69R AZGP1_ENST00000292401.4_Missense_Mutation_p.G72R P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc-binding 72 antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) CTCCAGAGTCCCATGGGCTGA 0.512000 36 97 0 0 0.827153 0 0 TTN 7273 broad.mit.edu 37 2 179641269 179641269 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:179641269G>A ENST00000589042.1 - 28 5546 c.5322C>T c.(5320-5322)atC>atT p.I1774I TTN_ENST00000359218.5_Silent_p.I1728I|TTN_ENST00000591111.1_Silent_p.I1774I|TTN_ENST00000342992.6_Silent_p.I1774I|TTN_ENST00000360870.5_Silent_p.I1774I|TTN_ENST00000460472.2_Silent_p.I1728I|TTN_ENST00000342175.6_Silent_p.I1728I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1527 Ig-like 8. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCAAGTAATGATACCACTGT 0.423000 36 36 0 0 0.819951 0 0 SPAG5 10615 broad.mit.edu 37 17 26919204 26919204 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:26919204G>A ENST00000321765.5 - 3 1390 c.1058C>T c.(1057-1059)tCc>tTc p.S353F NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 353 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) CAGCATGACGGAGGTATTTAC 0.527000 54 34 0 0 0.870114 0 0 PCDH20 64881 broad.mit.edu 37 13 61986305 61986305 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr13:61986305C>T ENST00000409186.1 - 5 4032 c.1927G>A c.(1927-1929)Gac>Aac p.D643N PCDH20_ENST00000409204.4_Missense_Mutation_p.D643N Q8N6Y1 PCD20_HUMAN protocadherin 20 616 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AAGCTGAAGTCCTTGTTGATA 0.478000 13 55 0 0 0.435327 0 0 JPH1 56704 broad.mit.edu 37 8 75227679 75227679 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:75227679G>A ENST00000342232.4 - 2 596 c.556C>T c.(556-558)Ccg>Tcg p.P186S NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 186 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GTGCCGGCCGGGCTGTCGGCG 0.701000 6 13 0 0 0.248553 0 0 KCND1 3750 broad.mit.edu 37 X 48822539 48822539 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:48822539G>A ENST00000218176.3 - 5 2938 c.1641C>T c.(1639-1641)tcC>tcT p.S547S KCND1_ENST00000376477.1_Silent_p.S170S NM_004979.4 NP_004970.3 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 1 547 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 CTGAGGCAGTGGAGTTGGCAA 0.652000 18 14 0 0 0.539581 0 0 OR8B12 219858 broad.mit.edu 37 11 124412768 124412768 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:124412768G>A ENST00000306842.2 - 1 807 c.783C>T c.(781-783)ccC>ccT p.P261P NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) GGATGGAAAGGGGTTTGAGAT 0.443000 10 47 0 0 0.361761 0 0 VWA2 340706 broad.mit.edu 37 10 116014789 116014789 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:116014789G>A ENST00000603594.1 + 4 564 c.243G>A c.(241-243)ctG>ctA p.L81L VWA2_ENST00000392982.3_Silent_p.L81L NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 81 VWFA 1. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) GTGACGGTCTGGACATCAGCC 0.527000 57 62 0 0 0.870114 0 0 ZNF727 442319 broad.mit.edu 37 7 63538091 63538091 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:63538091C>T ENST00000550760.3 + 4 843 c.664C>T c.(664-666)Cat>Tat p.H222Y NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 TAATAGAGTTCATACTGGAAA 0.373000 5 16 0 0 0.217242 0 0 ATP11A 23250 broad.mit.edu 37 13 113439559 113439559 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr13:113439559C>T ENST00000487903.1 + 2 238 c.150C>T c.(148-150)atC>atT p.I50I ATP11A_ENST00000375630.2_Silent_p.I50I|ATP11A_ENST00000375645.3_Silent_p.I50I|ATP11A_ENST00000283558.8_Silent_p.I50I P98196 AT11A_HUMAN ATPase, class VI, type 11A 50 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) ACAACAGGATCGTCTCGTCCA 0.552000 28 70 0 0 0.788014 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995218 140995218 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:140995218C>T ENST00000285879.4 + 4 2314 c.2028C>T c.(2026-2028)ctC>ctT p.L676L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 676 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AATCTCCTCTCCAGAGTCCTG 0.567000 HNSCC(15;0.026) 39 77 0 0 0.812448 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319545 21319545 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:21319545C>T ENST00000583088.1 + 3 1786 c.891C>T c.(889-891)gtC>gtT p.V297V KCNJ12_ENST00000331718.5_Silent_p.V297V NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) AGATCGTGGTCATCCTGGAAG 0.622000 Prostate(3;0.18) 4 128 0 0 0.411799 0 0 OR4C46 119749 broad.mit.edu 37 11 51515461 51515461 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:51515461C>T ENST00000328188.1 + 1 180 c.180C>T c.(178-180)tcC>tcT p.S60S NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 TGTACCTTTCCCTGGCCTATC 0.463000 90 159 0 0 0.870114 0 0 MARCO 8685 broad.mit.edu 37 2 119727901 119727901 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:119727901C>T ENST00000541757.1 + 4 557 c.177C>T c.(175-177)ttC>ttT p.F59F MARCO_ENST00000327097.4_Silent_p.F137F Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 137 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TAGACAACTTCACTCAGAACC 0.587000 4 9 0 0 0.150653 0 0 MYLK2 85366 broad.mit.edu 37 20 30414655 30414655 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:30414655G>A ENST00000375994.2 + 7 1411 c.1138G>A c.(1138-1140)Gag>Aag p.E380K MYLK2_ENST00000375985.4_Missense_Mutation_p.E380K|MYLK2_ENST00000468730.1_3'UTR Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 380 Protein kinase. cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCATCTGACCGAGGTGGACAC 0.572000 18 55 0 0 0.592651 0 0 HOXD12 3238 broad.mit.edu 37 2 176964993 176964993 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:176964993G>A ENST00000406506.2 + 1 536 c.464G>A c.(463-465)gGg>gAg p.G155E HOXD12_ENST00000404162.2_Missense_Mutation_p.G155E P35452 HXD12_HUMAN homeobox D12 155 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) CTGCTCCAGGGGGCTCCCTGC 0.652000 24 14 0 0 0.729181 0 0 MAGEB2 4113 broad.mit.edu 37 X 30237460 30237460 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:30237460G>A ENST00000378988.4 + 2 864 c.763G>A c.(763-765)Gaa>Aaa p.E255K NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 255 MAGE. protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 TCTGGTGCAGGAAAAATATCT 0.498000 7 27 0 0 0.278610 0 0 ACTL9 284382 broad.mit.edu 37 19 8808404 8808404 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:8808404G>A ENST00000324436.3 - 1 768 c.648C>T c.(646-648)caC>caT p.H216H NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 216 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 GCTCCGTGGCGTGGAGCAGGT 0.682000 15 47 0 0 0.520397 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25251594 25251594 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:25251594G>A ENST00000328086.7 - 7 3250 c.2447C>T c.(2446-2448)tCa>tTa p.S816L NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 816 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) ACCAAAATTTGAGGAGTCATT 0.428000 23 55 0 0 0.693898 0 0 SMYD2 56950 broad.mit.edu 37 1 214492290 214492290 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:214492290C>T ENST00000366957.5 + 5 520 c.498C>T c.(496-498)ttC>ttT p.F166F SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Silent_p.F166F NM_020197.2 NP_064582.2 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 166 SET. negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) ATCTCGGATTCCCTGACAATG 0.473000 30 77 0 0 0.779181 0 0 PTCHD2 57540 broad.mit.edu 37 1 11594528 11594528 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:11594528G>A ENST00000294484.6 + 18 3604 c.3466G>A c.(3466-3468)Gag>Aag p.E1156K PTCHD2_ENST00000304391.6_Missense_Mutation_p.R42Q|PTCHD2_ENST00000389575.3_Missense_Mutation_p.E1156K NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1156 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GGCCTTGCCCGAGGGCTCAGT 0.627000 25 35 0 0 0.681144 0 0 SYCE2 256126 broad.mit.edu 37 19 13011310 13011310 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:13011310C>T ENST00000293695.7 - 4 477 c.459G>A c.(457-459)gtG>gtA p.V153V GCDH_ENST00000588242.2_3'UTR NM_001105578.1 NP_001099048.1 Q6PIF2 SYCE2_HUMAN synaptonemal complex central element protein 2 153 cell division central element endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 ACACAGTCTCCACGCTGTGGC 0.527000 21 48 0 0 0.608945 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21032512 21032512 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:21032512C>T ENST00000381545.3 + 11 1497 c.1278C>T c.(1276-1278)ttC>ttT p.F426F LST3_ENST00000540229.1_Silent_p.F426F|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.F426F|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.F426F NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 426 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TTCTATATTTCCCTCTAATCT 0.313000 22 36 0 0 0.667858 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42169713 42169713 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:42169713C>T ENST00000373135.3 + 19 2396 c.2264C>T c.(2263-2265)tCt>tTt p.S755F L3MBTL1_ENST00000427442.2_Missense_Mutation_p.S823F|L3MBTL1_ENST00000373134.1_3'UTR|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.S823F|L3MBTL1_ENST00000444063.1_3'UTR NM_015478.6 NP_056293.4 Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 0 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 CTCCTCTGCTCTCTACCCACT 0.438000 95 158 0 0 0.870114 0 0 CDYL2 124359 broad.mit.edu 37 16 80718528 80718528 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:80718528G>A ENST00000299564.8 - 2 678 c.523C>T c.(523-525)Cat>Tat p.H175Y CDYL2_ENST00000562812.1_Missense_Mutation_p.H175Y|CDYL2_ENST00000563890.1_Missense_Mutation_p.H175Y|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Missense_Mutation_p.H175Y NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 175 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 CCAGGCTGATGGGACCCATTT 0.502000 42 66 0 0 0.853193 0 0 BRPF1 7862 broad.mit.edu 37 3 9781495 9781495 + Missense_Mutation SNP A A G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:9781495A>G ENST00000383829.2 + 3 1816 c.1412A>G c.(1411-1413)gAg>gGg p.E471G BRPF1_ENST00000433861.2_Missense_Mutation_p.E471G|BRPF1_ENST00000424362.1_Missense_Mutation_p.E471G|BRPF1_ENST00000302054.3_Missense_Mutation_p.E471G|BRPF1_ENST00000457855.1_Missense_Mutation_p.E471G NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 471 histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) gaagatgaggaggaggatgag 0.582000 9 9 0 0 0.361761 0 0 CARD11 84433 broad.mit.edu 37 7 2954992 2954992 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:2954992G>A ENST00000396946.4 - 21 3121 c.2718C>T c.(2716-2718)tcC>tcT p.S906S NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 906 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) ACTTGTTCTCGGACCTGCTGA 0.612000 Mis DLBCL 3 84 0 0 0.115264 0 0 REV1 51455 broad.mit.edu 37 2 100065964 100065964 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:100065964G>A ENST00000258428.3 - 4 412 c.184C>T c.(184-186)Cct>Tct p.P62S REV1_ENST00000393445.3_Missense_Mutation_p.P62S|REV1_ENST00000465835.1_5'UTR NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 62 BRCT. DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCAGCGGAAGGATCTGCaaaa 0.303000 Direct reversal of damage 26 22 0 0 0.693898 0 0 CXorf40B 541578 broad.mit.edu 37 X 149100861 149100861 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:149100861G>A ENST00000370406.3 - 5 1206 c.378C>T c.(376-378)aaC>aaT p.N126N CXorf40B_ENST00000370404.1_Silent_p.N126N|CXorf40B_ENST00000355203.2_Silent_p.N126N|CXorf40B_ENST00000462691.1_Silent_p.N126N Q96DE9 CX04B_HUMAN chromosome X open reading frame 40B 126 endometrium(1)|lung(4) 5 Acute lymphoblastic leukemia(192;6.56e-05) ACCACCTGGGGTTTGAAATCA 0.502000 42 133 0 0 0.870114 0 0 IFT122 55764 broad.mit.edu 37 3 129231158 129231158 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:129231158G>A ENST00000296266.3 + 25 3235 c.3043G>A c.(3043-3045)Gat>Aat p.D1015N IFT122_ENST00000504021.1_Missense_Mutation_p.D841N|IFT122_ENST00000348417.2_Missense_Mutation_p.D964N|IFT122_ENST00000507564.1_Missense_Mutation_p.D957N|IFT122_ENST00000347300.2_Missense_Mutation_p.D905N|IFT122_ENST00000440957.2_Missense_Mutation_p.D755N|IFT122_ENST00000431818.2_Missense_Mutation_p.D814N|IFT122_ENST00000349441.2_Missense_Mutation_p.D854N NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 964 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium 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 ACTGCAGGAAGATCCGTTCAG 0.507000 56 143 0 0 0.870114 0 0 CNKSR2 22866 broad.mit.edu 37 X 21550139 21550139 + Missense_Mutation SNP A A T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:21550139A>T ENST00000425654.2 + 11 1737 c.1257A>T c.(1255-1257)aaA>aaT p.K419N CNKSR2_ENST00000379510.3_Missense_Mutation_p.K419N|CNKSR2_ENST00000279451.4_Missense_Mutation_p.K419N|CNKSR2_ENST00000543067.1_Missense_Mutation_p.K370N|CNKSR2_ENST00000485012.1_3'UTR NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 419 DUF1170. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 AATATGAAAAAGGAAGATCAA 0.333000 8 74 0 0 0.361761 0 0 ZBTB33 10009 broad.mit.edu 37 X 119389146 119389146 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:119389146C>T ENST00000326624.2 + 2 2104 c.1876C>T c.(1876-1878)Cca>Tca p.P626S ZBTB33_ENST00000557385.1_Missense_Mutation_p.P626S NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 626 Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity). intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 AAAAGAACCTCCAGTAGGGAC 0.368000 29 90 0 0 0.750413 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50682244 50682244 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr22:50682244G>A ENST00000439308.2 - 1 1137 c.645C>T c.(643-645)ttC>ttT p.F215F TUBGCP6_ENST00000248846.5_Silent_p.F215F NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 215 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CAAGGGCCCCGAAGAGCGAGA 0.627000 11 41 0 0 0.411799 0 0 LEPREL2 10536 broad.mit.edu 37 12 6946236 6946236 + RNA SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:6946236C>T ENST00000251761.8 + 0 1579 LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA NM_014262.3 NP_055077.2 leprecan-like 2 breast(1)|cervix(1)|endometrium(2)|lung(6) 10 GCTCACGGTGCTTAAGGCTGC 0.667000 33 45 0 0 0.819951 0 0 PAPPA 5069 broad.mit.edu 37 9 118950233 118950233 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr9:118950233C>T ENST00000328252.3 + 2 1585 c.1216C>T c.(1216-1218)Cgc>Tgc p.R406C NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 406 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CTCCTCCCTTCGCCGCCGCCT 0.612000 21 74 0 0 0.667858 0 0 COL5A3 50509 broad.mit.edu 37 19 10084864 10084864 + Missense_Mutation SNP C C T rs147491932 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:10084864C>T ENST00000264828.3 - 47 3572 c.3487G>A c.(3487-3489)Gga>Aga p.G1163R NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1163 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCGACGTCTCCGACCTCCCCT 0.587000 30 54 0 0 0.827153 0 0 LRMP 4033 broad.mit.edu 37 12 25260825 25260825 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:25260825C>T ENST00000354454.3 + 21 2160 c.1331C>T c.(1330-1332)tCt>tTt p.S444F LRMP_ENST00000547044.1_Missense_Mutation_p.S444F|LRMP_ENST00000548766.1_Missense_Mutation_p.S444F NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 500 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) CTCTGGCTCTCTATTGCATTC 0.438000 46 58 0 0 0.870114 0 0 OR51B2 79345 broad.mit.edu 37 11 5345482 5345482 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:5345482G>A ENST00000328813.2 - 1 100 c.46C>T c.(46-48)Cca>Tca p.P16S HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCAGCCCTGGAAAGCCAGTC 0.498000 OREG0003719 type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 37 0 0 0.278610 0 0 MYO1C 4641 broad.mit.edu 37 17 1384096 1384096 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:1384096G>A ENST00000359786.5 - 6 1035 c.711C>T c.(709-711)ttC>ttT p.F237F MYO1C_ENST00000575158.1_Silent_p.F202F|MYO1C_ENST00000361007.2_Silent_p.F202F|MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000545534.2_Silent_p.F213F|MYO1C_ENST00000438665.2_Silent_p.F218F NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 237 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGAAGATGTGGAAGTTCCGCT 0.612000 67 51 0 0 0.870114 0 0 SNX33 257364 broad.mit.edu 37 15 75941532 75941532 + Missense_Mutation SNP T T G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:75941532T>G ENST00000308527.5 + 1 1286 c.89T>G c.(88-90)tTt>tGt p.F30C NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 30 SH3. cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 CTGGTCATCTTTAGCGAGACC 0.572000 65 136 0 0 0.870114 0 0 ENAM 10117 broad.mit.edu 37 4 71509972 71509972 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:71509972C>T ENST00000396073.3 + 9 3110 c.2829C>T c.(2827-2829)aaC>aaT p.N943N ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 943 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AAAGCCAAAACCCTTTTAGAG 0.453000 19 64 0 0 0.575678 0 0 PCNXL2 80003 broad.mit.edu 37 1 233296119 233296119 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:233296119C>T ENST00000258229.8 - 19 3661 c.3427G>A c.(3427-3429)Gtg>Atg p.V1143M PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Missense_Mutation_p.V276M NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1143 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TGAGGGAGCACGTAATGTGTT 0.468000 24 44 0 0 0.681144 0 0 ZNF844 284391 broad.mit.edu 37 19 12187443 12187443 + Missense_Mutation SNP C C G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:12187443C>G ENST00000439326.3 + 4 1683 c.1508C>G c.(1507-1509)cCt>cGt p.P503R ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P503R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCCTATGAGTGTA 0.413000 3 89 0 0 0.115264 0 0 TPTE 7179 broad.mit.edu 37 21 10920136 10920136 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr21:10920136C>T ENST00000298232.7 - 18 1431 c.1064G>A c.(1063-1065)cGa>cAa p.R355Q TPTE_ENST00000361285.4_Missense_Mutation_p.R373Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R335Q NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 373 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 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) TTTATCTGTTCGCCTTTCTCC 0.383000 8 89 0 0 0.387290 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). 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.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) 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) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 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 52 65 0 0 0.870114 0 0 MRPS23 51649 broad.mit.edu 37 17 55926609 55926609 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:55926609C>T ENST00000313608.8 - 2 252 c.207G>A c.(205-207)cgG>cgA p.R69R MRPS23_ENST00000578444.1_Silent_p.R69R NM_016070.3 NP_057154.2 Q9Y3D9 RT23_HUMAN mitochondrial ribosomal protein S23 69 translation intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome structural constituent of ribosome endometrium(2)|large_intestine(1)|lung(2) 5 Breast(9;8.75e-08) ACGCTCTAATCCGATCCTCGT 0.537000 39 44 0 0 0.870114 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993623 140993623 + Nonsense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:140993623C>T ENST00000285879.4 + 4 719 c.433C>T c.(433-435)Cag>Tag p.Q145* MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 145 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GAGTATTTTCCAGAGTTCCCC 0.498000 HNSCC(15;0.026) 26 55 0 0 0.706142 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 3 118 0 0 0.115264 0 0 GZMB 3002 broad.mit.edu 37 14 25101178 25101178 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:25101178C>T ENST00000216341.4 - 4 592 c.486G>A c.(484-486)gaG>gaA p.E162E RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000526004.1_3'UTR|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Silent_p.E196E|GZMB_ENST00000415355.3_Silent_p.E150E|GZMB_ENST00000382540.1_Silent_p.E117E P10144 GRAB_HUMAN granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 162 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2) 13 GBM - Glioblastoma multiforme(265;0.028) TCATCTTCACCTCTTGTAGTG 0.537000 30 89 0 0 0.750413 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111540140 111540140 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:111540140G>A ENST00000261486.5 - 15 1584 c.1308C>T c.(1306-1308)ttC>ttT p.F436F CTC-459M5.2_ENST00000505825.1_RNA|CTC-459M5.2_ENST00000506875.1_RNA|EPB41L4A_ENST00000507810.1_5'UTR NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 436 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) GCGTGTAAGGGAACTTTGGCG 0.498000 49 117 0 0 0.870114 0 0 CACNA2D1 781 broad.mit.edu 37 7 81600036 81600036 + Missense_Mutation SNP C C T rs79127167 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:81600036C>T ENST00000356860.3 - 27 2497 c.2159G>A c.(2158-2160)cGa>cAa p.R720Q CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R732Q|CACNA2D1_ENST00000535308.1_5'UTR NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 732 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CACAACAAATCGTGCTTTCAC 0.363000 37 153 0 0 0.870114 0 0 ASB2 51676 broad.mit.edu 37 14 94404084 94404084 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:94404084G>A ENST00000555019.1 - 9 2161 c.1731C>T c.(1729-1731)atC>atT p.I577I ASB2_ENST00000315988.4_Silent_p.I529I NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 529 SOCS box. intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) CAAAGCTGTCGATGTGTTCCT 0.617000 37 57 0 0 0.859065 0 0 MAST2 23139 broad.mit.edu 37 1 46496333 46496333 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:46496333C>T ENST00000361297.2 + 22 2891 c.2608C>T c.(2608-2610)Ccg>Tcg p.P870S MAST2_ENST00000372009.2_Missense_Mutation_p.P800S|MAST2_ENST00000372008.1_Missense_Mutation_p.P755S NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 870 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GACACCACCCCCGACCAAGCG 0.652000 5 16 0 0 0.184627 0 0 SERPINB2 5055 broad.mit.edu 37 18 61564393 61564393 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr18:61564393G>A ENST00000457692.1 + 5 690 c.357G>A c.(355-357)ggG>ggA p.G119G SERPINB2_ENST00000299502.4_Silent_p.G119G|SERPINB2_ENST00000482254.1_3'UTR NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 119 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) CATCCACAGGGAATTATTTAC 0.408000 27 80 0 0 0.717897 0 0 PDYN 5173 broad.mit.edu 37 20 1961046 1961046 + Missense_Mutation SNP G G A rs75861277 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:1961046G>A ENST00000217305.2 - 4 913 c.688C>T c.(688-690)Ctc>Ttc p.L230F PDYN_ENST00000540134.1_Missense_Mutation_p.L230F|PDYN_ENST00000539905.1_Missense_Mutation_p.L230F|RP4-684O24.5_ENST00000446562.1_RNA NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 230 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGGCGCCGGAGAAAACCGCCA 0.532000 69 117 0 0 0.870114 0 0 NBEA 26960 broad.mit.edu 37 13 35619464 35619464 + Missense_Mutation SNP T T G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr13:35619464T>G ENST00000540320.1 + 4 1183 c.649T>G c.(649-651)Tta>Gta p.L217V NBEA_ENST00000379939.2_Missense_Mutation_p.L217V|NBEA_ENST00000310336.4_Missense_Mutation_p.L217V|NBEA_ENST00000400445.3_Missense_Mutation_p.L217V Q8NFP9 NBEA_HUMAN neurobeachin 217 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AGTAAAATTATTATCAGTTCT 0.358000 8 18 0 0 0.278610 0 0 SIRT4 23409 broad.mit.edu 37 12 120750760 120750760 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:120750760C>T ENST00000202967.4 + 4 925 c.866C>T c.(865-867)cCc>cTc p.P289L SIRT4_ENST00000537892.1_3'UTR NM_012240.2 NP_036372.1 Q9Y6E7 SIRT4_HUMAN sirtuin 4 289 Deacetylase sirtuin-type. chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AACATTGGGCCCACACGGTCG 0.488000 45 127 0 0 0.853193 0 0 THOC2 57187 broad.mit.edu 37 X 122769997 122769997 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:122769997G>A ENST00000245838.8 - 19 1982 c.1951C>T c.(1951-1953)Cgt>Tgt p.R651C THOC2_ENST00000491737.1_Missense_Mutation_p.R536C|THOC2_ENST00000355725.4_Missense_Mutation_p.R651C NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 651 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 GGATATTTACGAAAAACTGCA 0.323000 12 88 0 0 0.457914 0 0 OR4S2 219431 broad.mit.edu 37 11 55418899 55418899 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:55418899C>T ENST00000312422.2 + 1 520 c.520C>T c.(520-522)Cac>Tac p.H174Y NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) TGAGATAGATCACTACTTTTG 0.448000 45 234 0 0 0.870114 0 0 CLCA4 22802 broad.mit.edu 37 1 87033125 87033125 + Nonsense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:87033125C>T ENST00000370563.3 + 7 1015 c.973C>T c.(973-975)Cga>Tga p.R325* CLCA4_ENST00000263723.5_Nonsense_Mutation_p.R38* NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 325 VWFA. apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) CCGCCTAAATCGAATGAATCA 0.363000 20 49 0 0 0.639603 0 0 NPC1L1 29881 broad.mit.edu 37 7 44560626 44560626 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:44560626G>A ENST00000289547.4 - 13 3100 c.3045C>T c.(3043-3045)ttC>ttT p.F1015F NPC1L1_ENST00000381160.3_Silent_p.F1015F|NPC1L1_ENST00000546276.1_Silent_p.F969F NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 1015 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GGTCGTTCAGGAACCAGGGAA 0.537000 74 279 0 0 0.870114 0 0 UGT2B11 10720 broad.mit.edu 37 4 70079978 70079978 + Missense_Mutation SNP G G A rs142415589 byFrequency TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:70079978G>A ENST00000446444.1 - 1 471 c.463C>T c.(463-465)Ccc>Tcc p.P155S RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 155 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TCACCACAGGGAAAAACAGCA 0.398000 18 89 0 0 0.608945 0 0 USH2A 7399 broad.mit.edu 37 1 216251555 216251555 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:216251555C>T ENST00000366943.2 - 27 5834 c.5448G>A c.(5446-5448)gtG>gtA p.V1816V RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Silent_p.V1816V|RP11-22M7.2_ENST00000446411.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1816 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCAGTCCATTCACACTTGCTG 0.443000 HNSCC(13;0.011) 52 132 0 0 0.870114 0 0 MROH2B 133558 broad.mit.edu 37 5 41058252 41058252 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:41058252C>T ENST00000399564.4 - 7 1119 c.669G>A c.(667-669)cgG>cgA p.R223R MROH2B_ENST00000506092.2_5'UTR NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GGAAGTCTTCCCGATGCAGCA 0.507000 5 27 0 0 0.217242 0 0 VRTN 55237 broad.mit.edu 37 14 74824812 74824812 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:74824812G>A ENST00000256362.4 + 2 1567 c.1326G>A c.(1324-1326)aaG>aaA p.K442K NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 442 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 GGCGGCGAAAGGCCCTCCGGA 0.572000 22 59 0 0 0.608945 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3677325 3677325 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:3677325C>T ENST00000344754.4 - 10 2590 c.2591G>A c.(2590-2592)cGa>cAa p.R864Q SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R864Q NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 864 Ig-like C2-type 8. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GCCCAGTTCTCGGACCTCTAA 0.592000 39 68 0 0 0.853193 0 0 RANBP2 5903 broad.mit.edu 37 2 109379960 109379960 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:109379960C>T ENST00000283195.6 + 20 3091 c.2965C>T c.(2965-2967)Cat>Tat p.H989Y NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 989 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GATTGCAGCTCATGCTTCAAG 0.423000 45 38 0 0 0.870114 0 0 TLL1 7092 broad.mit.edu 37 4 166964467 166964467 + Nonsense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:166964467C>T ENST00000061240.2 + 12 2067 c.1420C>T c.(1420-1422)Cag>Tag p.Q474* TLL1_ENST00000507499.1_Nonsense_Mutation_p.Q474* NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 474 CUB 2. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AGGACAGATTCAGTCTCCCAA 0.413000 43 124 0 0 0.870114 0 0 FZD9 8326 broad.mit.edu 37 7 72849810 72849810 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:72849810C>T ENST00000344575.3 + 1 1702 c.1473C>T c.(1471-1473)ccC>ccT p.P491P NM_003508.2 NP_003499.1 O00144 FZD9_HUMAN frizzled family receptor 9 491 B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 14 Lung NSC(55;0.0659)|all_lung(88;0.152) CCGCGGGGCCCGGAGGCCGGA 0.652000 37 35 0 0 0.847076 0 0 SPATA8 145946 broad.mit.edu 37 15 97327388 97327388 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:97327388C>T ENST00000328504.3 + 2 362 c.95C>T c.(94-96)tCg>tTg p.S32L SPATA8_ENST00000558553.1_5'UTR NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 32 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) TGCAGAACCTCGTCGCGACAT 0.567000 29 55 0 0 0.796494 0 0 NAV3 89795 broad.mit.edu 37 12 78513686 78513686 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:78513686G>A ENST00000397909.2 + 15 3883 c.3710G>A c.(3709-3711)gGa>gAa p.G1237E NAV3_ENST00000266692.7_Missense_Mutation_p.G1237E|NAV3_ENST00000228327.6_Missense_Mutation_p.G1237E|NAV3_ENST00000536525.2_Missense_Mutation_p.G1237E Q8IVL0 NAV3_HUMAN neuron navigator 3 1237 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity 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 AGGCAGCCAGGATCCAAGTAT 0.453000 HNSCC(70;0.22) 21 64 0 0 0.693898 0 0 NOS3 4846 broad.mit.edu 37 7 150692318 150692318 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:150692318C>T ENST00000297494.3 + 3 543 c.186C>T c.(184-186)ccC>ccT p.P62P NOS3_ENST00000484524.1_Silent_p.P62P|NOS3_ENST00000467517.1_Silent_p.P62P|NOS3_ENST00000461406.1_5'UTR NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 62 anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) TAACCCAGCCCCCAGAGGGGC 0.637000 14 52 0 0 0.520397 0 0 ROR1 4919 broad.mit.edu 37 1 64603123 64603123 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:64603123G>A ENST00000371079.1 + 5 929 c.554G>A c.(553-555)cGc>cAc p.R185H ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Missense_Mutation_p.R185H NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 185 FZ. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 ATTGGCAACCGCACCGTCTAT 0.398000 45 89 0 0 0.870114 0 0 DNMBP 23268 broad.mit.edu 37 10 101715388 101715388 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:101715388G>A ENST00000342239.3 - 4 1934 c.1843C>T c.(1843-1845)Ccc>Tcc p.P615S DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.P615S Q6XZF7 DNMBP_HUMAN dynamin binding protein 615 Pro-rich. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GGAGTACAGGGACGAGGTGGC 0.567000 15 20 0 0 0.575678 0 0 ASH1L 55870 broad.mit.edu 37 1 155450714 155450714 + Silent SNP G G A rs146736660 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:155450714G>A ENST00000368346.3 - 3 2586 c.1947C>T c.(1945-1947)tcC>tcT p.S649S ASH1L_ENST00000392403.3_Silent_p.S649S Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 649 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 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) TTTTTCCAAGGGAAGAGCTTA 0.318000 25 42 0 0 0.667858 0 0 KCTD12 115207 broad.mit.edu 37 13 77459381 77459381 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr13:77459381G>A ENST00000377474.2 - 1 1144 c.903C>T c.(901-903)gcC>gcT p.A301A KCTD12_ENST00000317765.2_Silent_p.A301A NM_138444.3 NP_612453.1 Q96CX2 KCD12_HUMAN potassium channel tetramerization domain containing 12 301 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.0499) TGCTGGCAAAGGCGCAGGTGC 0.622000 OREG0022449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 21 0 0 0.411799 0 0 LPAR1 1902 broad.mit.edu 37 9 113703746 113703746 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr9:113703746G>A ENST00000374431.3 - 4 1131 c.748C>T c.(748-750)Cgg>Tgg p.R250W LPAR1_ENST00000374430.2_Missense_Mutation_p.R250W|LPAR1_ENST00000358883.4_Missense_Mutation_p.R250W|LPAR1_ENST00000538760.1_Missense_Mutation_p.R251W|LPAR1_ENST00000541779.1_Missense_Mutation_p.R251W NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 250 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 ATGGTATCCCGATTCCGCCGG 0.443000 33 55 0 0 0.827153 0 0 NLRC4 58484 broad.mit.edu 37 2 32476208 32476208 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:32476208C>T ENST00000404025.2 - 5 1213 c.725G>A c.(724-726)aGg>aAg p.R242K NLRC4_ENST00000402280.1_Missense_Mutation_p.R242K|NLRC4_ENST00000360906.5_Missense_Mutation_p.R242K|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 242 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GAAAAGAACCCTCTGCCGCAG 0.488000 34 44 0 0 0.812448 0 0 EFHB 151651 broad.mit.edu 37 3 19926044 19926044 + Missense_Mutation SNP A A C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:19926044A>C ENST00000295824.9 - 11 2158 c.1997T>G c.(1996-1998)cTc>cGc p.L666R EFHB_ENST00000344838.4_Missense_Mutation_p.L536R NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 666 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 TGGCTTTATGAGGAGAGTTTG 0.368000 10 75 0 0 0.435327 0 0 APOB 338 broad.mit.edu 37 2 21239402 21239402 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:21239402C>T ENST00000233242.1 - 21 3368 c.3241G>A c.(3241-3243)Gat>Aat p.D1081N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1081 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTAGATTCATCATTAACTCTG 0.433000 25 29 0 0 0.693898 0 0 ADARB2 105 broad.mit.edu 37 10 1262994 1262994 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:1262994C>T ENST00000381312.1 - 7 1904 c.1579G>A c.(1579-1581)Gaa>Aaa p.E527K ADARB2_ENST00000469464.1_5'UTR NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 527 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) ACCGTCCCTTCCCCGGACTCG 0.647000 4 7 0 0 0.150653 0 0 PRX 57716 broad.mit.edu 37 19 40900022 40900022 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:40900022G>A ENST00000324001.7 - 7 4507 c.4237C>T c.(4237-4239)Ccc>Tcc p.P1413S PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1413 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GACACCCTGGGGAAGCGGAAC 0.662000 37 89 0 0 0.870114 0 0 ZNF41 7592 broad.mit.edu 37 X 47307452 47307452 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:47307452G>A ENST00000377065.4 - 5 2356 c.1717C>T c.(1717-1719)Cat>Tat p.H573Y ZNF41_ENST00000313116.7_Missense_Mutation_p.H573Y|ZNF41_ENST00000397050.2_Missense_Mutation_p.H583Y NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 615 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) TCTCCAATATGAGATTTCTGA 0.438000 9 38 0 0 0.361761 0 0 QRFP 347148 broad.mit.edu 37 9 133769099 133769099 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr9:133769099G>A ENST00000343079.1 - 1 126 c.127C>T c.(127-129)Ctg>Ttg p.L43L NM_198180.1 NP_937823.1 P83859 OX26_HUMAN pyroglutamylated RFamide peptide 43 locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior extracellular region neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding cervix(1)|endometrium(3)|lung(1)|skin(2) 7 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267) CCCATGGCCAGGTCGGCCCAG 0.667000 12 15 0 0 0.411799 0 0 PRDM7 11105 broad.mit.edu 37 16 90126823 90126823 + Missense_Mutation SNP T T G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:90126823T>G ENST00000449207.2 - 9 1178 c.1159A>C c.(1159-1161)Atg>Ctg p.M387L PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 387 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCATACCAGACCAG 0.522000 3 104 0 0 0.115264 0 0 FRMPD2 143162 broad.mit.edu 37 10 49440299 49440299 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:49440299C>T ENST00000374201.3 - 10 1329 c.1027G>A c.(1027-1029)Gac>Aac p.D343N FRMPD2_ENST00000407470.4_Missense_Mutation_p.D312N|FRMPD2_ENST00000305531.3_Missense_Mutation_p.D319N NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 343 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) ACACAGAGGTCCCTGAGAGCC 0.438000 15 18 0 0 0.500413 0 0 DGKA 1606 broad.mit.edu 37 12 56347547 56347547 + Missense_Mutation SNP A A T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:56347547A>T ENST00000331886.5 + 24 2657 c.2203A>T c.(2203-2205)Agc>Tgc p.S735C DGKA_ENST00000394147.1_Missense_Mutation_p.S735C|DGKA_ENST00000551156.1_Missense_Mutation_p.S735C|DGKA_ENST00000549079.2_3'UTR NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 735 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) TGGCTTCTTGAGCTAAGGGGG 0.572000 21 56 0 0 0.575678 0 0 KCNIP4 80333 broad.mit.edu 37 4 20736339 20736339 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:20736339G>A ENST00000382148.3 - 5 710 c.374C>T c.(373-375)tCc>tTc p.S125F KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000447367.2_Missense_Mutation_p.S116F|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000509207.1_Missense_Mutation_p.S88F|KCNIP4_ENST00000382150.4_Missense_Mutation_p.S129F|KCNIP4_ENST00000382152.2_Missense_Mutation_p.S150F|KCNIP4_ENST00000359001.5_Missense_Mutation_p.S88F NM_001035003.1 NP_001030175.1 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 150 EF-hand 2. plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) GAGCAAAATGGAAAGACCTTT 0.313000 30 73 0 0 0.779181 0 0 LILRB1 10859 broad.mit.edu 37 19 55144586 55144586 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:55144586G>A ENST00000396331.1 + 8 1435 c.1078G>A c.(1078-1080)Gag>Aag p.E360K LILRB1_ENST00000324602.7_Missense_Mutation_p.E360K|LILRB1_ENST00000418536.2_Missense_Mutation_p.E360K|LILRB1_ENST00000396317.1_Missense_Mutation_p.E360K|LILRB1_ENST00000396321.2_Missense_Mutation_p.E360K|LILRB1_ENST00000427581.2_Missense_Mutation_p.E396K|LILRB1_ENST00000396315.1_Missense_Mutation_p.E360K|LILRB1_ENST00000396327.3_Missense_Mutation_p.E360K|LILRB1_ENST00000396332.4_Missense_Mutation_p.E360K|LILRB1_ENST00000434867.2_Missense_Mutation_p.E360K|LILRB1_ENST00000448689.1_Missense_Mutation_p.E360K NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 360 Ig-like C2-type 4. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TCTGACCAAGGAGGGGGCAGC 0.582000 HNSCC(37;0.09) 30 77 0 0 0.706142 0 0 IGHV3-43 28426 broad.mit.edu 37 14 106926337 106926337 + RNA SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:106926337G>A ENST00000434710.1 - 0 284 CAACTAATAAGAGAGACCCAC 0.507000 58 142 0 0 0.870114 0 0 SYCP1 6847 broad.mit.edu 37 1 115524020 115524020 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:115524020C>T ENST00000369522.3 + 29 2686 c.2446C>T c.(2446-2448)Cct>Tct p.P816S SYCP1_ENST00000369518.1_Missense_Mutation_p.P816S|SYCP1_ENST00000477590.1_3'UTR NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 816 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TAAAGCAGTTCCTTCACAAAC 0.323000 34 84 0 0 0.788014 0 0 KRT16 3868 broad.mit.edu 37 17 39768589 39768589 + Missense_Mutation SNP T T C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:39768589T>C ENST00000301653.4 - 1 416 c.352A>G c.(352-354)Aag>Gag p.K118E NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 118 Coil 1A.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) ATGGTCACCTTCTCACTGCCC 0.597000 26 29 0 0 0.870114 0 0 CACNA1F 778 broad.mit.edu 37 X 49066156 49066156 + Missense_Mutation SNP A A G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:49066156A>G ENST00000376265.2 - 41 4848 c.4787T>C c.(4786-4788)tTc>tCc p.F1596S CACNA1F_ENST00000323022.5_Missense_Mutation_p.F1585S|CACNA1F_ENST00000376251.1_Missense_Mutation_p.F1531S NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1596 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) CCTCCGCCGGAATTTGCGGAA 0.582000 9 21 0 0 0.307466 0 0 SH2D2A 9047 broad.mit.edu 37 1 156784098 156784098 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:156784098G>A ENST00000392306.2 - 4 466 c.327C>T c.(325-327)tcC>tcT p.S109S SH2D2A_ENST00000368199.3_Intron|SH2D2A_ENST00000368198.3_Intron NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 103 SH2. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGTGGGTGACGGAGAGAGGGG 0.647000 7 16 0 0 0.248553 0 0 ZNF675 171392 broad.mit.edu 37 19 23844924 23844924 + Missense_Mutation SNP T T C TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:23844924T>C ENST00000359788.4 - 3 386 c.218A>G c.(217-219)gAa>gGa p.E73G ZNF675_ENST00000601010.1_Missense_Mutation_p.E73G|ZNF675_ENST00000600313.1_Missense_Mutation_p.E73G|ZNF675_ENST00000599168.1_Missense_Mutation_p.E73G|ZNF675_ENST00000596211.1_Missense_Mutation_p.E73G|ZNF675_ENST00000601935.1_Missense_Mutation_p.E73G NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 73 KRAB. bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ACCTGGGGGTTCATTCACCAT 0.418000 37 84 0 0 0.834066 0 0 SATB1 6304 broad.mit.edu 37 3 18393630 18393630 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:18393630G>A ENST00000338745.6 - 10 3367 c.1633C>T c.(1633-1635)Ctg>Ttg p.L545L SATB1_ENST00000454909.2_Silent_p.L545L|SATB1_ENST00000417717.2_Silent_p.L545L|TBC1D5_ENST00000414318.2_Intron NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 545 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 TTCTCCCACAGGGTTCTGTTT 0.502000 16 22 0 0 0.575678 0 0 MCF2 4168 broad.mit.edu 37 X 138697067 138697067 + Missense_Mutation SNP C C A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:138697067C>A ENST00000520602.1 - 13 1801 c.1516G>T c.(1516-1518)Ggg>Tgg p.G506W MCF2_ENST00000414978.1_Missense_Mutation_p.G506W|MCF2_ENST00000370576.4_Missense_Mutation_p.G446W|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000370578.4_Missense_Mutation_p.G591W|MCF2_ENST00000370573.4_Missense_Mutation_p.G446W|MCF2_ENST00000536274.1_Missense_Mutation_p.G407W|MCF2_ENST00000338585.6_Missense_Mutation_p.G446W|MCF2_ENST00000519895.1_Missense_Mutation_p.G506W P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 446 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) AATGGTGTCCCAGATGTGACC 0.373000 77 125 7.49063e-41 7.68057e-41 0.870114 1 0 OR5M1 390168 broad.mit.edu 37 11 56380701 56380701 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:56380701G>A ENST00000526538.1 - 1 277 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 TCCAGCGTAGGAGATGGTCTT 0.438000 10 69 0 0 0.411799 0 0 NAT2 10 broad.mit.edu 37 8 18258245 18258245 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:18258245C>T ENST00000286479.3 + 2 839 c.732C>T c.(730-732)ttC>ttT p.F244F NAT2_ENST00000520116.1_Silent_p.F114F NM_000015.2 NP_000006.2 P11245 ARY2_HUMAN N-acetyltransferase 2 (arylamine N-acetyltransferase) 244 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) ATAGAAAATTCAATTATAAAG 0.388000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 10 35 0 0 0.387290 0 0 OR52E2 119678 broad.mit.edu 37 11 5079909 5079909 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:5079909C>T ENST00000321522.2 - 1 948 c.949G>A c.(949-951)Gaa>Aaa p.E317K NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 317 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E317K(1) endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) AGGTACTCTTCCTTTTCCATT 0.338000 15 29 0 0 0.539581 0 0 KLB 152831 broad.mit.edu 37 4 39439491 39439491 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:39439491C>T ENST00000257408.4 + 3 1578 c.1481C>T c.(1480-1482)tCt>tTt p.S494F NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 494 Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 AAACCTAAGTCTTCAGCACAC 0.443000 26 66 0 0 0.750413 0 0 MUC16 94025 broad.mit.edu 37 19 9016683 9016683 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:9016683G>A ENST00000397910.4 - 28 38257 c.38054C>T c.(38053-38055)cCa>cTa p.P12685L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12687 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGGGAGGATGGAGTCCCTGA 0.483000 12 32 0 0 0.520397 0 0 BRINP3 339479 broad.mit.edu 37 1 190067932 190067932 + Missense_Mutation SNP C C A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:190067932C>A ENST00000367462.3 - 8 1748 c.1517G>T c.(1516-1518)aGa>aTa p.R506I FAM5C_ENST00000534846.1_Missense_Mutation_p.R404I|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 506 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TTCTATTCGTCTGTCCGTTTT 0.488000 37 89 5.59293e-11 5.68966e-11 0.827153 1 0 SERPINA10 51156 broad.mit.edu 37 14 94750329 94750329 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:94750329G>A ENST00000554723.1 - 5 1846 c.1428C>T c.(1426-1428)ggC>ggT p.G476G SERPINA10_ENST00000554173.1_Silent_p.G436G|SERPINA10_ENST00000261994.4_Silent_p.G436G|SERPINA10_ENST00000393096.1_Silent_p.G436G Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 436 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) TCACCACCCTGCCCAGAAACA 0.448000 22 81 0 0 0.693898 0 0 OR51E1 143503 broad.mit.edu 37 11 4673817 4673817 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:4673817C>T ENST00000396952.5 + 2 711 c.61C>T c.(61-63)Cct>Tct p.P21S OR51E1_ENST00000530215.1_Missense_Mutation_p.P21S NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) AATAGGCCTCCCTGGTTTAGA 0.493000 54 119 0 0 0.870114 0 0 KCNJ14 3770 broad.mit.edu 37 19 48967815 48967815 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:48967815G>A ENST00000391884.1 + 2 1568 c.1092G>A c.(1090-1092)aaG>aaA p.K364K KCNJ14_ENST00000342291.2_Silent_p.K364K Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel, subfamily J, member 14 364 voltage-gated potassium channel complex inward rectifier potassium channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1) 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;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) GCAGTGCTAAGGAGCTGGATG 0.542000 17 51 0 0 0.592651 0 0 MUC16 94025 broad.mit.edu 37 19 9070835 9070835 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:9070835G>A ENST00000397910.4 - 3 16814 c.16611C>T c.(16609-16611)ccC>ccT p.P5537P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5539 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGCTATTGTGGGCCGATCAA 0.483000 39 73 0 0 0.840704 0 0 WDR44 54521 broad.mit.edu 37 X 117527156 117527156 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:117527156C>T ENST00000254029.3 + 4 1143 c.748C>T c.(748-750)Cct>Tct p.P250S WDR44_ENST00000371825.3_Missense_Mutation_p.P250S|WDR44_ENST00000371822.5_Missense_Mutation_p.P225S|WDR44_ENST00000493448.1_3'UTR NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 250 Pro-rich. P -> L (in Ref. 2; CAL38662). cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 ACCCCCACCTCCTTCTCGACC 0.463000 41 200 0 0 0.870114 0 0 IFRD2 7866 broad.mit.edu 37 3 50329957 50329957 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:50329957G>A ENST00000336089.4 - 3 300 c.301C>T c.(301-303)Ctg>Ttg p.L101L IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000436390.1_5'UTR Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 106 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TGAGCGCGCAGGCGACGGCGG 0.637000 11 37 0 0 0.457914 0 0 ACTR10 55860 broad.mit.edu 37 14 58701235 58701235 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:58701235C>T ENST00000254286.4 + 13 1300 c.1220C>T c.(1219-1221)cCt>cTt p.P407L ACTR10_ENST00000554402.1_3'UTR NM_018477.2 NP_060947.1 Q9NZ32 ARP10_HUMAN actin-related protein 10 homolog (S. cerevisiae) 407 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 13 ACTCAACCACCTCTGATGAAG 0.348000 27 58 0 0 0.750413 0 0 CD1E 913 broad.mit.edu 37 1 158325805 158325805 + Missense_Mutation SNP A A G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:158325805A>G ENST00000444681.2 + 3 810 c.517A>G c.(517-519)Acc>Gcc p.T173A CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Missense_Mutation_p.T83A|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.T272A|CD1E_ENST00000452291.2_Missense_Mutation_p.T83A|CD1E_ENST00000368156.1_Missense_Mutation_p.T182A|CD1E_ENST00000368165.3_Missense_Mutation_p.T182A|CD1E_ENST00000368167.3_Missense_Mutation_p.T272A|CD1E_ENST00000434258.1_Missense_Mutation_p.T270A|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368163.3_Intron NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 272 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) TCTCCGAGCAACCCTGGATGT 0.612000 37 104 0 0 0.827153 0 0 UNC13C 440279 broad.mit.edu 37 15 54527229 54527229 + Splice_Site SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:54527229G>A ENST00000545554.1 + 4 3073 c.3071_splice c.e4-1 p.A1025_splice UNC13C_ENST00000260323.11_Splice_Site_p.A1025_splice|UNC13C_ENST00000537900.1_Splice_Site_p.A1025_splice Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1025 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTCTTTCAGGGCTGGAGGTGG 0.368000 24 46 0 0 0.667858 0 0 SLC9A4 389015 broad.mit.edu 37 2 103149136 103149136 + Nonsense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:103149136C>T ENST00000295269.4 + 12 2843 c.2386C>T c.(2386-2388)Caa>Taa p.Q796* NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 796 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TCCTTTGCTCCAAAAAAAATA 0.473000 5 22 0 0 0.411799 0 0 DCP1A 55802 broad.mit.edu 37 3 53326850 53326850 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:53326850G>A ENST00000607628.1 - 7 741 c.632C>T c.(631-633)cCa>cTa p.P211L DCP1A_ENST00000606822.1_Missense_Mutation_p.P173L|DCP1A_ENST00000294241.6_Missense_Mutation_p.P211L|DCP1A_ENST00000480258.1_5'UTR NM_018403.5 NP_060873.4 Q9NPI6 DCP1A_HUMAN decapping mRNA 1A 211 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647) GTGTCCAGATGGAGCAGACTG 0.423000 16 29 0 0 0.539581 0 0 ABCB1 5243 broad.mit.edu 37 7 87178784 87178784 + Missense_Mutation SNP C C A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:87178784C>A ENST00000265724.3 - 15 2022 c.1605G>T c.(1603-1605)caG>caT p.Q535H ABCB1_ENST00000543898.1_Missense_Mutation_p.Q471H NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 535 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TCCTCTGCTTCTGCCCACCAC 0.542000 90 100 5.66435e-50 5.8172e-50 0.870114 1 0 DOCK2 1794 broad.mit.edu 37 5 169135259 169135259 + Nonsense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:169135259G>A ENST00000520908.1 + 2 214 c.50G>A c.(49-51)tGg>tAg p.W17* DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000256935.8_Missense_Mutation_p.M490I Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 0 SH3. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CACGCTGGATGGAAACAGTCA 0.398000 10 37 0 0 0.435327 0 0 SULF1 23213 broad.mit.edu 37 8 70533306 70533306 + Nonsense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr8:70533306C>T ENST00000260128.4 + 14 2131 c.1414C>T c.(1414-1416)Cga>Tga p.R472* SULF1_ENST00000419716.3_Nonsense_Mutation_p.R472*|SULF1_ENST00000402687.4_Nonsense_Mutation_p.R472*|SULF1_ENST00000458141.2_Nonsense_Mutation_p.R472*|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 472 apoptosis|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 breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TGGCAAGCTTCGAATTCACAA 0.498000 33 48 0 0 0.853193 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913684 77913684 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:77913684C>T ENST00000321110.1 - 2 529 c.234G>A c.(232-234)aaG>aaA p.K78K NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 78 Pro-rich. nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 ACTCTGGGGTCTTTTGGGCCT 0.612000 6 14 0 0 0.217242 0 0 ZNF99 7652 broad.mit.edu 37 19 22939793 22939793 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:22939793C>T ENST00000397104.3 - 6 2537 c.2538G>A c.(2536-2538)agG>agA p.R846R zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTTATGTTTCCTAAGGGCTG 0.348000 30 46 0 0 0.729181 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332666 22332666 + RNA SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:22332666C>T ENST00000558896.1 + 0 473 TAGGGGATTTCCTACAGCAGG 0.443000 21 192 0 0 0.575678 0 0 MICU2 221154 broad.mit.edu 37 13 22084147 22084147 + Nonsense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr13:22084147G>A ENST00000382374.4 - 8 822 c.757C>T c.(757-759)Cga>Tga p.R253* NM_152726.2 NP_689939.1 mitochondrial calcium uptake 2 ATTTACCTTCGAAATTCTTTA 0.284000 13 26 0 0 0.479597 0 0 PLCB3 5331 broad.mit.edu 37 11 64029508 64029508 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:64029508C>T ENST00000540288.1 + 17 2101 c.1998C>T c.(1996-1998)aaC>aaT p.N666N PLCB3_ENST00000325234.5_Silent_p.N599N|PLCB3_ENST00000279230.6_Silent_p.N666N NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 666 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 TCTTCTGGAACGTAGGGTGCC 0.592000 25 54 0 0 0.706142 0 0 P2RY10 27334 broad.mit.edu 37 X 78216762 78216762 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:78216762G>A ENST00000171757.2 + 4 1025 c.745G>A c.(745-747)Gct>Act p.A249T P2RY10_ENST00000544091.1_Missense_Mutation_p.A249T NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 249 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 GTTCATGTGTGCTGCAGTCTT 0.438000 20 22 0 0 0.592651 0 0 TTN 7273 broad.mit.edu 37 2 179604643 179604643 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:179604643G>A ENST00000589042.1 - 48 13541 c.13317C>T c.(13315-13317)atC>atT p.I4439I TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.I4201I|TTN_ENST00000591111.1_Silent_p.I4122I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Silent_p.I4076I|TTN_ENST00000342175.6_Silent_p.I4268I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4122 Ig-like 24. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACATGCACATGATGTGTCTGG 0.453000 41 35 0 0 0.834066 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401502 77401502 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:77401502C>T ENST00000282849.5 - 4 1032 c.614G>A c.(613-615)aGg>aAg p.R205K ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 205 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CTCTGCTGTCCTTTTGTACAG 0.537000 22 63 0 0 0.654019 0 0 CA5B 11238 broad.mit.edu 37 X 15790710 15790710 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:15790710C>T ENST00000318636.3 + 4 568 c.432C>T c.(430-432)acC>acT p.T144T CA5B_ENST00000454127.2_Silent_p.T144T NM_007220.3 NP_009151.1 Q9Y2D0 CAH5B_HUMAN carbonic anhydrase VB, mitochondrial 144 one-carbon metabolic process mitochondrion carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2) 9 Hepatocellular(33;0.183) CTGAGCACACCGTGGACAGCA 0.488000 40 226 0 0 0.870114 0 0 FBLIM1 54751 broad.mit.edu 37 1 16101263 16101263 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:16101263G>A ENST00000375766.3 + 7 1502 c.862G>A c.(862-864)Gag>Aag p.E288K FBLIM1_ENST00000400773.1_Missense_Mutation_p.E191K|FBLIM1_ENST00000332305.5_Missense_Mutation_p.E191K|FBLIM1_ENST00000375771.1_Missense_Mutation_p.E288K|FBLIM1_ENST00000441801.2_Missense_Mutation_p.E288K NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 288 LIM zinc-binding 2.|PLEKHC1-binding. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) CAGCCAGAACGAGGTGTACTG 0.632000 48 135 0 0 0.870114 0 0 C9orf171 389799 broad.mit.edu 37 9 135374949 135374949 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr9:135374949C>T ENST00000343036.2 + 4 642 c.594C>T c.(592-594)ccC>ccT p.P198P C9orf171_ENST00000393215.3_Silent_p.P162P|C9orf171_ENST00000393216.2_Silent_p.P162P NM_207417.1 NP_997300.1 Q6ZQR2 CI171_HUMAN chromosome 9 open reading frame 171 198 large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 AAGAGCCGCCCCCTCTCCCTC 0.602000 31 100 0 0 0.788014 0 0 USP29 57663 broad.mit.edu 37 19 57640948 57640948 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:57640948C>T ENST00000254181.4 + 4 1359 c.905C>T c.(904-906)tCg>tTg p.S302L USP29_ENST00000598197.1_Missense_Mutation_p.S302L NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 302 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTTTTACAATCGCTATTTGCA 0.453000 19 40 0 0 0.575678 0 0 UCHL1 7345 broad.mit.edu 37 4 41262709 41262709 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:41262709G>A ENST00000284440.4 + 4 364 c.220G>A c.(220-222)Gaa>Aaa p.E74K UCHL1_ENST00000503431.1_Missense_Mutation_p.E74K|UCHL1_ENST00000508768.1_Missense_Mutation_p.E74K|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000512788.1_Missense_Mutation_p.E74K NM_004181.4 NP_004172.2 P09936 UCHL1_HUMAN ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) 74 cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus|plasma membrane alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2) 8 GAAGGGACAAGAAGTTAGTCC 0.418000 29 40 0 0 0.717897 0 0 PLXNC1 10154 broad.mit.edu 37 12 94653466 94653466 + Silent SNP C C G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:94653466C>G ENST00000258526.4 + 19 3456 c.3207C>G c.(3205-3207)gtC>gtG p.V1069V PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000547057.1_Silent_p.V116V NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 1069 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TTGTTACTGTCATCCACACCC 0.373000 28 78 0 0 0.796494 0 0 SH2D2A 9047 broad.mit.edu 37 1 156784099 156784099 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:156784099G>A ENST00000392306.2 - 4 465 c.326C>T c.(325-327)tCc>tTc p.S109F SH2D2A_ENST00000368199.3_Intron|SH2D2A_ENST00000368198.3_Intron NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 103 SH2. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GTGGGTGACGGAGAGAGGGGG 0.652000 8 15 0 0 0.278610 0 0 ZP2 7783 broad.mit.edu 37 16 21209161 21209161 + Nonsense_Mutation SNP G G T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:21209161G>T ENST00000574002.1 - 19 2503 c.2021C>A c.(2020-2022)tCa>tAa p.S674* AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Nonsense_Mutation_p.S665*|ZP2_ENST00000219593.4_Nonsense_Mutation_p.S674* Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 674 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) TAGATCAGATGAGCCGACACC 0.483000 38 89 2.64894e-19 2.71181e-19 0.870114 1 0 RPLP2 6181 broad.mit.edu 37 11 812574 812574 + Missense_Mutation SNP T T A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:812574T>A ENST00000321153.4 + 4 606 c.212T>A c.(211-213)gTa>gAa p.V71E RPLP2_ENST00000532004.1_3'UTR|RPLP2_ENST00000530797.1_Missense_Mutation_p.V71E NM_001004.3 NP_000995.1 P05387 RLA2_HUMAN ribosomal protein, large, P2 71 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome lung(1) 1 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGTGGGGCTGTAGCCGTCTCT 0.637000 20 34 0 0 0.693898 0 0 COL6A5 256076 broad.mit.edu 37 3 130159121 130159121 + Missense_Mutation SNP A A G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:130159121A>G ENST00000265379.6 + 35 6433 c.5939A>G c.(5938-5940)aAg>aGg p.K1980R COL6A5_ENST00000432398.2_Missense_Mutation_p.K1980R A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 1980 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 GATGAGTTTAAGGCTGTGAAA 0.413000 12 29 0 0 0.411799 0 0 MEPE 56955 broad.mit.edu 37 4 88766882 88766882 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:88766882C>T ENST00000497649.2 + 6 1168 c.790C>T c.(790-792)Cca>Tca p.P264S MEPE_ENST00000424957.3_Missense_Mutation_p.P288S|MEPE_ENST00000361056.3_Missense_Mutation_p.P288S|MEPE_ENST00000540395.1_Missense_Mutation_p.P175S|MEPE_ENST00000560249.1_Missense_Mutation_p.P175S|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.P319S Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 288 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) GTTTGCAGGCCCAAGTGAAGC 0.448000 14 34 0 0 0.479597 0 0 INTS4 92105 broad.mit.edu 37 11 77602489 77602489 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:77602489G>A ENST00000534064.1 - 21 2502 c.2468C>T c.(2467-2469)aCc>aTc p.T823I INTS4_ENST00000535943.1_Missense_Mutation_p.T198I|AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000532481.1_Intron|AAMDC_ENST00000527134.1_Intron NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 823 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) CTCGATGATGGTGGCTGAGGC 0.493000 3 24 0 0 0.217242 0 0 RYR2 6262 broad.mit.edu 37 1 237774281 237774281 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:237774281G>A ENST00000366574.2 + 36 5220 c.4903G>A c.(4903-4905)Gaa>Aaa p.E1635K RYR2_ENST00000360064.6_Missense_Mutation_p.E1633K|RYR2_ENST00000542537.1_Missense_Mutation_p.E1619K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1635 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 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) TATCCCTGAGGAAAACAGGTC 0.542000 6 12 0 0 0.217242 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42165071 42165071 + Nonsense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:42165071C>T ENST00000444063.1 + 16 2008 c.1876C>T c.(1876-1878)Cga>Tga p.R626* L3MBTL1_ENST00000427442.2_Nonsense_Mutation_p.R694*|L3MBTL1_ENST00000373135.3_Nonsense_Mutation_p.R626*|L3MBTL1_ENST00000373134.1_Nonsense_Mutation_p.R631*|L3MBTL1_ENST00000418998.1_Nonsense_Mutation_p.R694* Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 626 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R694*(1) breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 TCCGAAGTATCGAAAGATTCC 0.547000 44 103 0 0 0.870114 0 0 MUC16 94025 broad.mit.edu 37 19 8976592 8976592 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:8976592C>T ENST00000397910.4 - 74 42587 c.42384G>A c.(42382-42384)ctG>ctA p.L14128L MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Silent_p.L769L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14159 SEA 14. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGAGGGAGATCAGTTGGCAAC 0.562000 8 21 0 0 0.361761 0 0 KCNK18 338567 broad.mit.edu 37 10 118960782 118960782 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:118960782G>A ENST00000334549.1 + 2 336 c.336G>A c.(334-336)acG>acA p.T112T NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 112 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) TCTGCTGCACGGTGTTCAGCA 0.562000 29 39 0 0 0.729181 0 0 TRIML2 205860 broad.mit.edu 37 4 189022404 189022404 + Splice_Site SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:189022404C>T ENST00000512729.1 - 3 510 c.135_splice c.e3-1 p.E46_splice TRIML2_ENST00000536972.1_Splice_Site_p.E96_splice|TRIML2_ENST00000326754.3_Splice_Site_p.E46_splice NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 46 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TGTTCCTCTTCCTTCCTCATA 0.343000 14 29 0 0 0.479597 0 0 WRB 7485 broad.mit.edu 37 21 40762629 40762629 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr21:40762629C>T ENST00000333781.5 + 2 249 c.108C>T c.(106-108)tcC>tcT p.S36S WRB_ENST00000380708.1_Silent_p.S2S|WRB_ENST00000398753.1_Silent_p.S2S|WRB_ENST00000541890.1_Silent_p.S36S|WRB_ENST00000466787.1_3'UTR NM_004627.4 NP_004618.2 O00258 WRB_HUMAN tryptophan rich basic protein 36 integral to membrane|nucleolus endometrium(3) 3 Prostate(19;1.2e-06) GCCAGATGTCCAGGGTGCTGC 0.587000 11 25 0 0 0.479597 0 0 GREM1 26585 broad.mit.edu 37 15 33022961 33022961 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:33022961G>A ENST00000300177.4 + 2 259 c.70G>A c.(70-72)Ggg>Agg p.G24R GREM1_ENST00000560677.1_Missense_Mutation_p.G24R|GREM1_ENST00000560830.1_Missense_Mutation_p.G24R|GREM1_ENST00000322805.4_Missense_Mutation_p.G24R NM_001191322.1|NM_001191323.1|NM_013372.6 NP_001178251.1|NP_001178252.1|NP_037504.1 O60565 GREM1_HUMAN gremlin 1, DAN family BMP antagonist 24 negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1) 10 all_lung(180;1.49e-09) all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107) GGCTGCTGAAGGGAAAAAGAA 0.602000 33 44 0 0 0.788014 0 0 RELN 5649 broad.mit.edu 37 7 103629660 103629660 + Silent SNP C C G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:103629660C>G ENST00000428762.1 - 1 303 c.144G>C c.(142-144)ggG>ggC p.G48G RELN_ENST00000424685.2_Silent_p.G48G|RELN_ENST00000343529.5_Silent_p.G48G NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 48 Reelin. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCTCCCCATCCCCTTCCAGCT 0.627000 22 93 0 0 0.667858 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960771 73960771 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:73960771C>T ENST00000373468.1 - 3 4272 c.3621G>A c.(3619-3621)ggG>ggA p.G1207G KIAA2022_ENST00000055682.5_Silent_p.G1207G Q5QGS0 K2022_HUMAN KIAA2022 1207 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GTTTTTCAATCCCCTTGTTGT 0.438000 14 50 0 0 0.500413 0 0 NOL4 8715 broad.mit.edu 37 18 31537398 31537398 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr18:31537398G>A ENST00000261592.5 - 8 1617 c.1320C>T c.(1318-1320)atC>atT p.I440I NOL4_ENST00000538587.1_Silent_p.I366I|NOL4_ENST00000535384.1_Silent_p.I155I|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Intron NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 440 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 ATGAGTCAATGATAGCCTGGA 0.468000 9 44 0 0 0.335167 0 0 RNF17 56163 broad.mit.edu 37 13 25362126 25362126 + Splice_Site SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr13:25362126G>A ENST00000255324.5 + 7 664 c.611_splice c.e7-1 p.R204_splice RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Splice_Site_p.R204_splice|RNF17_ENST00000255325.5_Silent_p.R205R NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 204 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TTAAATGAAGGAAAAAGAACC 0.264000 15 62 0 0 0.539581 0 0 ZBED4 9889 broad.mit.edu 37 22 50277355 50277355 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr22:50277355C>T ENST00000216268.4 + 2 522 c.45C>T c.(43-45)ttC>ttT p.F15F NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 15 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) ACGGTGATTTCGTTTCTGATA 0.383000 15 31 0 0 0.479597 0 0 ATRX 546 broad.mit.edu 37 X 76937624 76937624 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:76937624C>T ENST00000373344.5 - 9 3338 c.3124G>A c.(3124-3126)Gga>Aga p.G1042R ATRX_ENST00000395603.3_Missense_Mutation_p.G1004R|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1042 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTCTTTTCTCCATCAGTTGTT 0.328000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 16 74 0 0 0.479597 0 0 CASP5 838 broad.mit.edu 37 11 104874009 104874009 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:104874009G>A ENST00000393141.2 - 4 605 c.574C>T c.(574-576)Cat>Tat p.H192Y CASP5_ENST00000531367.1_Missense_Mutation_p.H37Y|CASP5_ENST00000526056.1_Missense_Mutation_p.H192Y|CASP5_ENST00000418434.1_Missense_Mutation_p.H37Y|CASP5_ENST00000260315.3_Missense_Mutation_p.H179Y|CASP5_ENST00000444749.2_Missense_Mutation_p.H121Y|CASP5_ENST00000393139.2_Intron NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 179 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) ACCTCATCATGATTTTTTTTA 0.393000 42 79 0 0 0.870114 0 0 RHOXF2 84528 broad.mit.edu 37 X 119293197 119293197 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:119293197C>T ENST00000371388.3 + 2 546 c.356C>T c.(355-357)tCg>tTg p.S119L NM_032498.1 NP_115887.1 Q9BQY4 RHXF2_HUMAN Rhox homeobox family, member 2 119 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2) 8 CAGCAGTATTCGCGCCCACAG 0.667000 3 16 0 0 0.115264 0 0 ZNF182 7569 broad.mit.edu 37 X 47836055 47836055 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:47836055C>T ENST00000396965.1 - 7 1781 c.1431G>A c.(1429-1431)caG>caA p.Q477Q ZNF182_ENST00000305127.6_Silent_p.Q477Q|ZNF182_ENST00000376943.3_Silent_p.Q458Q NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 TATGACCTCTCTGATGCAGCA 0.393000 11 55 0 0 0.479597 0 0 CD22 933 broad.mit.edu 37 19 35823807 35823807 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:35823807G>A ENST00000085219.5 + 3 458 c.392G>A c.(391-393)cGa>cAa p.R131Q CD22_ENST00000536635.2_Missense_Mutation_p.R131Q|CD22_ENST00000594250.1_Missense_Mutation_p.R131Q|CD22_ENST00000270311.6_Missense_Mutation_p.R11Q|CD22_ENST00000544992.2_Missense_Mutation_p.R131Q|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.R131Q|CD22_ENST00000595419.1_3'UTR NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 131 Ig-like V-type. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TGGATGGAACGAATACACCTC 0.552000 24 58 0 0 0.717897 0 0 EPHA4 2043 broad.mit.edu 37 2 222307567 222307567 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:222307567C>T ENST00000281821.2 - 11 2097 c.2056G>A c.(2056-2058)Gaa>Aaa p.E686K EPHA4_ENST00000409854.1_Missense_Mutation_p.E686K|EPHA4_ENST00000409938.1_Missense_Mutation_p.E686K|EPHA4_ENST00000392071.4_Missense_Mutation_p.E635K NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 686 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) ACCACGCCTTCCAAGTGAATG 0.453000 42 48 0 0 0.870114 0 0 ZNF566 84924 broad.mit.edu 37 19 36940432 36940432 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:36940432G>A ENST00000454319.1 - 5 841 c.707C>T c.(706-708)aCc>aTc p.T236I ZNF566_ENST00000493391.1_Missense_Mutation_p.T131I|ZNF566_ENST00000434377.2_Missense_Mutation_p.T235I|ZNF566_ENST00000424129.2_Missense_Mutation_p.T235I|ZNF566_ENST00000392170.2_Missense_Mutation_p.T236I NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) ACAAATAAAGGTTTTTCCACA 0.403000 13 50 0 0 0.479597 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237497 140237497 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:140237497C>T ENST00000307360.5 + 1 1864 c.1864C>T c.(1864-1866)Cgc>Tgc p.R622C PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCCCGTTTCGCGTGGGGCT 0.632000 26 57 0 0 0.706142 0 0 SRCAP 10847 broad.mit.edu 37 16 30749171 30749171 + Missense_Mutation SNP C C G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:30749171C>G ENST00000262518.4 + 34 8195 c.7810C>G c.(7810-7812)Cct>Gct p.P2604A SRCAP_ENST00000395059.2_Missense_Mutation_p.P2542A|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2446A NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2604 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TTCTCTCACCCCTTCTGCACC 0.557000 21 61 0 0 0.681144 0 0 FAM46D 169966 broad.mit.edu 37 X 79699086 79699086 + Nonsense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:79699086C>T ENST00000538312.1 + 5 1382 c.1048C>T c.(1048-1050)Cag>Tag p.Q350* FAM46D_ENST00000308293.5_Nonsense_Mutation_p.Q350* NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 350 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 TTGCTTTTATCAGCCTGCTCC 0.453000 26 41 0 0 0.717897 0 0 RAB3IP 117177 broad.mit.edu 37 12 70150363 70150363 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:70150363C>T ENST00000550536.1 + 3 935 c.478C>T c.(478-480)Cgt>Tgt p.R160C RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000247833.7_Missense_Mutation_p.R144C|RAB3IP_ENST00000483530.2_Missense_Mutation_p.R144C|RAB3IP_ENST00000362025.5_Missense_Mutation_p.R160C|RAB3IP_ENST00000378815.6_Missense_Mutation_p.R144C NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 160 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding p.R160S(2) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) TAGTCTGTCTCGTTTACGAAG 0.393000 50 107 0 0 0.870114 0 0 OR2AT4 341152 broad.mit.edu 37 11 74800612 74800612 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:74800612C>T ENST00000305159.3 - 1 187 c.147G>A c.(145-147)ctG>ctA p.L49L NM_001005285.1 NP_001005285.1 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, member 4 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 CCACCAGGATCAGGGCATTAC 0.507000 13 62 0 0 0.500413 0 0 KITLG 4254 broad.mit.edu 37 12 88926227 88926227 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:88926227C>T ENST00000347404.5 - 3 755 c.183G>A c.(181-183)atG>atA p.M61I KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Missense_Mutation_p.M61I|KITLG_ENST00000378535.4_5'UTR NM_003994.5 NP_003985.2 P21583 SCF_HUMAN KIT ligand 61 cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 CCAAAACATCCATCCCGGGGA 0.333000 Testicular Cancer, Familial Clustering of 42 113 0 0 0.870114 0 0 TAS2R16 50833 broad.mit.edu 37 7 122634835 122634835 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:122634835C>T ENST00000249284.2 - 1 919 c.854G>A c.(853-855)aGg>aAg p.R285K NM_016945.2 NP_058641.1 Q9NYV7 T2R16_HUMAN taste receptor, type 2, member 16 285 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CTTTAGAATCCTTTTCAACGT 0.423000 38 167 0 0 0.870114 0 0 LMCD1 29995 broad.mit.edu 37 3 8590277 8590277 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:8590277C>T ENST00000157600.3 + 4 643 c.411C>T c.(409-411)atC>atT p.I137I LMCD1_ENST00000454244.1_Silent_p.I64I|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Silent_p.I25I|LMCD1_ENST00000535732.1_Silent_p.I137I NM_014583.2 NP_055398.1 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 137 PET. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) TGGAGCTCATCCCCAAGGAGA 0.557000 26 28 0 0 0.717897 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895503 42895503 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:42895503G>A ENST00000399770.2 + 1 220 c.220G>A c.(220-222)Gag>Aag p.E74K NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 74 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 TGATGAGAATGAGAATGACCA 0.463000 56 105 0 0 0.870114 0 0 UNC13C 440279 broad.mit.edu 37 15 54919198 54919198 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:54919198G>A ENST00000545554.1 + 32 6532 c.6532G>A c.(6532-6534)Gat>Aat p.D2178N UNC13C_ENST00000260323.11_Missense_Mutation_p.D2178N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D2176N|UNC13C_ENST00000539562.2_Missense_Mutation_p.D99N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2178 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TATCTCTATGGATGAAACTGG 0.383000 31 58 0 0 0.769981 0 0 DMBT1 1755 broad.mit.edu 37 10 124345772 124345772 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:124345772C>T ENST00000338354.3 + 16 1762 c.1656C>T c.(1654-1656)ggC>ggT p.G552G DMBT1_ENST00000368955.3_Silent_p.G542G|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Silent_p.G552G|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Silent_p.G542G|DMBT1_ENST00000359586.6_Intron Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 552 SRCR 4. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTGGTCAGGGCTCAGGACCCA 0.592000 98 81 0 0 0.870114 0 0 NPAS4 266743 broad.mit.edu 37 11 66192167 66192167 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:66192167C>T ENST00000311034.2 + 7 1982 c.1806C>T c.(1804-1806)gtC>gtT p.V602V NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 602 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CTGTGGATGTCCCCCTGGTGC 0.582000 21 96 0 0 0.667858 0 0 RBM27 54439 broad.mit.edu 37 5 145638042 145638042 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:145638042C>T ENST00000265271.5 + 11 1791 c.1625C>T c.(1624-1626)cCa>cTa p.P542L RBM27_ENST00000506502.1_Missense_Mutation_p.P487L NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 542 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACTGAACCACCAGTTCCTGTT 0.358000 24 63 0 0 0.760397 0 0 IGF1 3479 broad.mit.edu 37 12 102811662 102811662 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr12:102811662C>T ENST00000307046.8 - 4 703 c.522G>A c.(520-522)aaG>aaA p.K174K IGF1_ENST00000392904.1_Intron|IGF1_ENST00000456098.1_Intron|IGF1_ENST00000424202.2_Intron|IGF1_ENST00000337514.6_Intron NM_001111285.1 NP_001104755.1 P05019 IGF1_HUMAN insulin-like growth factor 1 (somatomedin C) 174 anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration platelet alpha granule lumen growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1) 11 GCTCTTTCTTCTTTCCTCTGA 0.468000 250 346 0 0 0.870114 0 0 SERAC1 84947 broad.mit.edu 37 6 158537289 158537289 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr6:158537289C>T ENST00000367104.3 - 14 1560 c.1429G>A c.(1429-1431)Gaa>Aaa p.E477K SERAC1_ENST00000367101.1_Silent_p.T491T|SERAC1_ENST00000367102.2_Silent_p.T491T NM_032861.3 NP_116250.3 Q96JX3 SRAC1_HUMAN serine active site containing 1 477 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) CTAAGAAGTTCGTTGCTTCTG 0.438000 24 49 0 0 0.706142 0 0 TRBV4-2 28616 broad.mit.edu 37 7 142045297 142045297 + RNA SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:142045297G>A ENST00000390392.3 + 0 46 AGGCCAAGGAGACCAGAGCCC 0.577000 26 71 0 0 0.667858 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685886 125685886 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:125685886C>T ENST00000371126.1 - 1 948 c.706G>A c.(706-708)Gag>Aag p.E236K NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 236 p.E236*(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 AGACCCACCTCGCTATGCCAG 0.652000 23 28 0 0 0.667858 0 0 SDK2 54549 broad.mit.edu 37 17 71364676 71364676 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:71364676G>A ENST00000392650.3 - 37 5037 c.5037C>T c.(5035-5037)ttC>ttT p.F1679F SDK2_ENST00000388726.3_Silent_p.F1660F|SDK2_ENST00000410094.1_5'UTR NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1679 Fibronectin type-III 11. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TCTCAGCCAGGAAAAGCGTCT 0.587000 8 5 0 0 0.307466 0 0 USP9X 8239 broad.mit.edu 37 X 41075851 41075851 + Nonsense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:41075851C>T ENST00000324545.7 + 35 6664 c.6031C>T c.(6031-6033)Cag>Tag p.Q2011* USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q2011* NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 2011 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 GGAGTATTTTCAGTTTATGAA 0.363000 22 34 0 0 0.654019 0 0 KCND2 3751 broad.mit.edu 37 7 120385840 120385840 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:120385840G>A ENST00000331113.4 + 5 2439 c.1474G>A c.(1474-1476)Gag>Aag p.E492K NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 492 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding 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) ACAGAATCACGAGTTTGTGGA 0.378000 34 28 0 0 0.819951 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101775612 101775612 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:101775612G>A ENST00000334289.3 - 5 967 c.372C>T c.(370-372)ctC>ctT p.L124L NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 124 signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) TAGTCAAAAGGAGAACTCTAT 0.363000 9 54 0 0 0.361761 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95109850 95109850 + RNA SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:95109850G>A ENST00000469935.1 + 0 887 NR_015340.1 CAGCCCAAAGGAGTTCTTTGT 0.582000 12 26 0 0 0.457914 0 0 KCNK5 8645 broad.mit.edu 37 6 39162039 39162039 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr6:39162039G>A ENST00000359534.3 - 4 878 c.540C>T c.(538-540)ttC>ttT p.F180F NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 180 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 CCATGAATACGAAGGGTGGGA 0.572000 30 75 0 0 0.779181 0 0 CPS1 1373 broad.mit.edu 37 2 211542633 211542633 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr2:211542633C>T ENST00000233072.5 + 38 4623 c.4427C>T c.(4426-4428)gCt>gTt p.A1476V CPS1_ENST00000430249.2_Missense_Mutation_p.A1482V|CPS1_ENST00000451903.2_Missense_Mutation_p.A1025V NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1476 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTTGCTGAAGCTGTGCAGAAA 0.428000 157 136 0 0 0.870114 0 0 ARID3B 10620 broad.mit.edu 37 15 74883771 74883771 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:74883771G>A ENST00000346246.5 + 6 1392 c.1161G>A c.(1159-1161)agG>agA p.R387R NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 387 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 CCACTCTCAGGAAAGGTCAGC 0.562000 57 88 0 0 0.870114 0 0 UGT2B11 10720 broad.mit.edu 37 4 70080315 70080315 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:70080315G>A ENST00000446444.1 - 1 134 c.126C>T c.(124-126)atC>atT p.I42I RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 42 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 GCTCTTTCAGGATTGTCTTCA 0.433000 58 163 0 0 0.870114 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45484800 45484800 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:45484800G>A ENST00000359600.5 - 14 3089 c.2884C>T c.(2884-2886)Cca>Tca p.P962S NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 962 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) CAGCTCTGTGGATCCTTCATA 0.542000 OREG0013450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 60 0 0 0.750413 0 0 FBXW7 55294 broad.mit.edu 37 4 153251889 153251889 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:153251889G>A ENST00000281708.4 - 7 2346 c.1117C>T c.(1117-1119)Cct>Tct p.P373S FBXW7_ENST00000263981.5_Missense_Mutation_p.P293S|FBXW7_ENST00000603548.1_Missense_Mutation_p.P373S|FBXW7_ENST00000603841.1_Missense_Mutation_p.P373S|FBXW7_ENST00000296555.5_Missense_Mutation_p.P255S|FBXW7_ENST00000393956.3_Missense_Mutation_p.P197S NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 373 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GTTACCTTAGGAGATTTGAGT 0.383000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 60 103 0 0 0.870114 0 0 SSX6 280657 broad.mit.edu 37 X 47970732 47970732 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:47970732G>A ENST00000376932.2 + 4 347 c.273G>A c.(271-273)ggG>ggA p.G91G SSX6_ENST00000319275.3_5'UTR large_intestine(6)|lung(4)|skin(2)|stomach(1) 13 GTAACCGTGGGAATGAGGGTG 0.488000 14 19 0 0 0.457914 0 0 ZNF730 100129543 broad.mit.edu 37 19 23328846 23328846 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:23328846C>T ENST00000597761.2 + 4 1199 c.1000C>T c.(1000-1002)Cat>Tat p.H334Y NM_001277403.1 NP_001264332.1 zinc finger protein 730 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 TAAAAGAATTCATAATGGAGA 0.353000 10 32 0 0 0.361761 0 0 UGT2B15 7366 broad.mit.edu 37 4 69520822 69520822 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:69520822C>T ENST00000338206.5 - 4 1093 c.1084G>A c.(1084-1086)Gac>Aac p.D362N NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 362 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CCAAGAAGGTCATTCTGGGGT 0.353000 29 137 0 0 0.788014 0 0 OR52L1 338751 broad.mit.edu 37 11 6007457 6007457 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:6007457G>A ENST00000332249.4 - 1 758 c.704C>T c.(703-705)tCc>tTc p.S235F NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGGGCATAGGAAACACCAAT 0.517000 46 94 0 0 0.870114 0 0 NRGN 4900 broad.mit.edu 37 11 124615495 124615495 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:124615495C>T ENST00000526916.2 + 2 252 c.112C>T c.(112-114)Cgg>Tgg p.R38W RP11-677M14.2_ENST00000531241.1_RNA|NRGN_ENST00000412681.1_Missense_Mutation_p.R38W|NRGN_ENST00000284292.5_Missense_Mutation_p.R38W Q92686 NEUG_HUMAN neurogranin (protein kinase C substrate, RC3) 38 IQ. nervous system development|signal transduction calmodulin binding all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) GGCGAGTTTTCGGGGCCACAT 0.706000 7 21 0 0 0.307466 0 0 TAB3 257397 broad.mit.edu 37 X 30870900 30870900 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:30870900G>A ENST00000378933.1 - 4 1882 c.1705C>T c.(1705-1707)Cct>Tct p.P569S TAB3_ENST00000378930.3_Missense_Mutation_p.P569S|TAB3_ENST00000378932.2_Missense_Mutation_p.P569S|TAB3_ENST00000378928.1_Missense_Mutation_p.P20S|TAB3_ENST00000288422.2_Missense_Mutation_p.P569S NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 569 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 CTTACCGTAGGGATCGCAGTG 0.473000 11 65 0 0 0.500413 0 0 MYH15 22989 broad.mit.edu 37 3 108172924 108172924 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr3:108172924G>A ENST00000273353.3 - 22 2444 c.2388C>T c.(2386-2388)gtC>gtT p.V796V NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 796 IQ. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 ACAATGTGAAGACTTTAGATA 0.428000 18 43 0 0 0.592651 0 0 C20orf26 26074 broad.mit.edu 37 20 20168620 20168620 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr20:20168620G>A ENST00000245957.5 + 14 1508 c.1432G>A c.(1432-1434)Gaa>Aaa p.E478K C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 478 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) TCCTGGTGTGGAAAATCTTGT 0.398000 50 77 0 0 0.870114 0 0 ARID5B 84159 broad.mit.edu 37 10 63851859 63851859 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:63851859C>T ENST00000279873.7 + 10 3047 c.2637C>T c.(2635-2637)ctC>ctT p.L879L ARID5B_ENST00000309334.5_Silent_p.L636L NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 879 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) AAGAAAAGCTCCATGTAAATT 0.478000 21 33 0 0 0.639603 0 0 OR4K1 79544 broad.mit.edu 37 14 20404636 20404636 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:20404636C>T ENST00000285600.4 + 1 870 c.811C>T c.(811-813)Ctt>Ttt p.L271F NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L271F(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GGACAAATTTCTTTCTGTGTT 0.418000 23 69 0 0 0.639603 0 0 WHAMM 123720 broad.mit.edu 37 15 83499403 83499403 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:83499403C>T ENST00000286760.4 + 9 1793 c.1694C>T c.(1693-1695)cCa>cTa p.P565L NM_001080435.1 NP_001073904.1 Q8TF30 WHAMM_HUMAN WAS protein homolog associated with actin, golgi membranes and microtubules 565 cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus actin binding endometrium(6)|large_intestine(5)|lung(1)|prostate(1) 13 CCTGTGGCTCCAAACCTGCCA 0.502000 88 202 0 0 0.870114 0 0 TRIM27 5987 broad.mit.edu 37 6 28887948 28887948 + Missense_Mutation SNP A A T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr6:28887948A>T ENST00000377199.3 - 3 944 c.588T>A c.(586-588)caT>caA p.H196Q TRIM27_ENST00000377194.3_Missense_Mutation_p.H196Q|TRIM27_ENST00000498117.1_5'UTR NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 196 cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 GGCGATACTCATGCTCCTTTA 0.507000 T RET papillary thyroid 76 132 0 0 0.870114 0 0 CEP135 9662 broad.mit.edu 37 4 56890735 56890735 + Missense_Mutation SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:56890735C>T ENST00000257287.4 + 25 3513 c.3389C>T c.(3388-3390)tCt>tTt p.S1130F NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 1130 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding p.S1130C(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) ACTCTGAGGTCTCCTTCACAT 0.398000 95 253 0 0 0.870114 0 0 EMR1 2015 broad.mit.edu 37 19 6906493 6906493 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:6906493C>T ENST00000312053.4 + 9 1036 c.999C>T c.(997-999)atC>atT p.I333I EMR1_ENST00000450315.3_Silent_p.I156I|EMR1_ENST00000381404.4_Silent_p.I281I|EMR1_ENST00000381407.5_Silent_p.I192I|EMR1_ENST00000250572.8_Silent_p.I333I NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 333 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) ATAAGCAGATCCAGCAATGCC 0.393000 26 50 0 0 0.729181 0 0 MYH6 4624 broad.mit.edu 37 14 23855722 23855722 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr14:23855722C>T ENST00000405093.3 - 33 4831 c.4761G>A c.(4759-4761)caG>caA p.Q1587Q MYH6_ENST00000356287.3_Silent_p.Q1587Q NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1587 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TGCGCTTGGCCTGTTCCATCT 0.607000 92 210 0 0 0.870114 0 0 FAM217A 222826 broad.mit.edu 37 6 4073562 4073562 + Silent SNP C C T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr6:4073562C>T ENST00000274673.3 - 6 652 c.249G>A c.(247-249)ggG>ggA p.G83G FAM217A_ENST00000380188.2_5'UTR NM_173563.2 NP_775834.2 Q8IXS0 CF146_HUMAN family with sequence similarity 217, member A 83 ATTGAAAGATCCCTTGTTTAC 0.279000 29 70 0 0 0.788014 0 0 C9 735 broad.mit.edu 37 5 39306872 39306872 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:39306872G>A ENST00000263408.4 - 9 1358 c.1263C>T c.(1261-1263)ctC>ctT p.L421L NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 421 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) CATCATCTATGAGGTTTTCAC 0.373000 17 32 0 0 0.520397 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762233 130762233 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr6:130762233G>A ENST00000392429.1 + 2 3044 c.666G>A c.(664-666)atG>atA p.M222I TMEM200A_ENST00000545622.1_Missense_Mutation_p.M222I|TMEM200A_ENST00000296978.3_Missense_Mutation_p.M222I NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 222 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GTTTTCGAATGGACAGCTCCG 0.483000 12 32 0 0 0.387290 0 0 MGAM 8972 broad.mit.edu 37 7 141800675 141800675 + Missense_Mutation SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:141800675G>A ENST00000475668.2 + 68 8002 c.7948G>A c.(7948-7950)Gat>Aat p.D2650N MGAM_ENST00000549489.2_Missense_Mutation_p.D1754N O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1754 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTTCTGGGATGATGGGCAAAG 0.502000 8 36 0 0 0.307466 0 0 SF3A3 10946 broad.mit.edu 37 1 38433717 38433717 + Splice_Site SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:38433717G>A ENST00000373019.4 - 15 2326 c.1372_splice c.e15+1 p.S457_splice SF3A3_ENST00000448721.2_Splice_Site_p.S404_splice NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 457 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CTTACTTACAGGAGACAGCAT 0.453000 83 199 0 0 0.870114 0 0 MGEA5 10724 broad.mit.edu 37 10 103553686 103553686 + Missense_Mutation SNP A A G TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:103553686A>G ENST00000361464.3 - 11 2449 c.2054T>C c.(2053-2055)cTa>cCa p.L685P MGEA5_ENST00000482611.1_Intron|MGEA5_ENST00000357797.5_Missense_Mutation_p.L632P|MGEA5_ENST00000439817.1_Missense_Mutation_p.L632P NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 685 Histone acetyltransferase activity (By similarity). glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) CTCTCCTGCTAGACCACCTCT 0.428000 4 159 0 0 0.150653 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310403 57310403 + Silent SNP G G A TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:57310403G>A ENST00000457912.1 + 2 342 c.342G>A c.(340-342)aaG>aaA p.K114K SMTNL1_ENST00000399154.2_Silent_p.K96K|SMTNL1_ENST00000527972.1_Silent_p.K96K E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 96 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 AACTTAAAAAGGAGGATGGTG 0.498000 2 6 0 0 0.115264 0 0 NEXN 91624 broad.mit.edu 37 1 78383723 78383738 + Splice_Site DEL GGTAAGAAGCTTGAGG GGTAAGAAGCTTGAGG - TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr1:78383723_78383738delGGTAAGAAGCTTGAGG ENST00000330010.8 + 3 403 c.106_splice c.e3+1 p.36_splice NEXN_ENST00000334785.7_Splice_Site_p.100_splice|NEXN_ENST00000294624.8_Splice_Site_p.100_splice|NEXN_ENST00000457030.1_Splice_Site_p.100_splice NM_001172309.1 NP_001165780.1 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 100 regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) AAAATTAACAGGTAAGAAGCTTGAGGGGTAAATAGT 0.287 13 109 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389206 1389207 + Frame_Shift_Del DEL CA CA - rs71299249 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr4:1389206_1389207delCA ENST00000324803.4 + 1 3867_3868 c.907_908delCA c.(907-909)cfs p.H303fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 303 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CCCGCCTGCTCACACGTGCCGA 0.673 7 667 --- --- --- --- TIGD6 81789 broad.mit.edu 37 5 149375600 149375600 + Frame_Shift_Del DEL T T - TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:149375600delT ENST00000296736.3 - 2 1086 c.312delA c.(310-312)aafs p.K104fs TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs NM_030953.3 NP_112215.1 Q17RP2 TIGD6_HUMAN tigger transposable element derived 6 104 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AGTTTAGTGCTTTTTTCCGAA 0.423 8 354 --- --- --- --- TENM2 57451 broad.mit.edu 37 5 167625861 167625861 + Frame_Shift_Del DEL C C - TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr5:167625861delC ENST00000519204.1 + 15 2659 c.2541delC c.(2539-2541)ttfs p.F847fs TENM2_ENST00000403607.2_Frame_Shift_Del_p.F792fs|TENM2_ENST00000518659.1_Frame_Shift_Del_p.F968fs|TENM2_ENST00000520394.1_Frame_Shift_Del_p.F736fs|TENM2_ENST00000545108.1_Frame_Shift_Del_p.F968fs teneurin transmembrane protein 2 TCTCCAGGTTCGACCTGATCG 0.557 59 169 --- --- --- --- COL1A2 1278 broad.mit.edu 37 7 94050333 94050333 + Frame_Shift_Del DEL C C - TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr7:94050333delC ENST00000297268.6 + 38 2779 c.2308delC c.(2308-2310)ccfs p.P771fs NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 771 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCCAAATGGTCCCCCCGGTCC 0.453 HNSCC(75;0.22) 7 180 --- --- --- --- ISCA1 81689 broad.mit.edu 37 9 88881100 88881101 + Frame_Shift_Ins INS - - TT rs140944675 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr9:88881100_88881101insTT ENST00000375991.4 - 4 317_318 c.247_248insAA c.(247-249)agtfs p.S83fs ISCA1_ENST00000452279.2_Frame_Shift_Ins_p.S130fs|ISCA1_ENST00000311534.6_5'UTR NM_030940.3 NP_112202.2 Q9BUE6 ISCA1_HUMAN iron-sulfur cluster assembly 1 83 iron-sulfur cluster assembly mitochondrion iron-sulfur cluster binding|metal ion binding|structural molecule activity endometrium(2)|large_intestine(1)|lung(4)|pancreas(1) 8 OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375) GATGAATACTCTGACTCCTTGG 0.376 32 95 --- --- --- --- LCN10 414332 broad.mit.edu 37 9 139635711 139635712 + Frame_Shift_Ins INS - - T TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr9:139635711_139635712insT ENST00000497771.1 - 3 414_415 c.359_360insA c.(358-360)cgafs p.R120fs LCN10_ENST00000474369.1_Intron|LCN10_ENST00000527229.1_Frame_Shift_Ins_p.R120fs|LCN6_ENST00000435202.1_Intron NM_001001712.2 NP_001001712.2 Q6JVE6 LCN10_HUMAN lipocalin 10 107 transport extracellular region binding breast(2)|cervix(1)|large_intestine(1) 4 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05) CACCTCCCTCCTGTCCTTCCCT 0.649 14 29 --- --- --- --- MBL1P 8512 broad.mit.edu 37 10 81680656 81680656 + RNA DEL A A - TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr10:81680656delA ENST00000480805.1 + 0 723 NR_002724.2 GCTTTTGGGGAAAAAAAAAAG 0.542 3 6 --- --- --- --- DYNC2H1 79659 broad.mit.edu 37 11 103090657 103090657 + Frame_Shift_Del DEL A A - TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:103090657delA ENST00000375735.2 + 56 8990 c.8846delA c.(8845-8847)cafs p.Q2949fs DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.Q2949fs|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2949 Stalk (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GCTAGTGAGCAAAAAACAGAA 0.259 2 4 --- --- --- --- TRAPPC4 51399 broad.mit.edu 37 11 118895613 118895613 + Frame_Shift_Del DEL A A - TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr11:118895613delA ENST00000533058.1 + 5 658 c.628delA c.(628-630)ctfs p.T210fs SLC37A4_ENST00000538950.1_3'UTR|SLC37A4_ENST00000330775.7_3'UTR|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000357590.5_3'UTR|SLC37A4_ENST00000545985.1_3'UTR Q9Y296 TPPC4_HUMAN trafficking protein particle complex 4 0 dendrite development|ER to Golgi vesicle-mediated transport cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle protein binding NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) CGGAACCTGGACTCTCTTCAC 0.607 9 14 --- --- --- --- EIF2AK4 440275 broad.mit.edu 37 15 40282508 40282508 + Frame_Shift_Del DEL T T - TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:40282508delT ENST00000263791.5 + 16 2604 c.2561delT c.(2560-2562)atfs p.I854fs EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 854 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CCTGTCAACATTTTTTTGGAT 0.358 7 587 --- --- --- --- GANC 2595 broad.mit.edu 37 15 42632918 42632918 + Frame_Shift_Del DEL A A - TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr15:42632918delA ENST00000318010.8 + 18 2358 c.2118delA c.(2116-2118)ctfs p.L706fs NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 706 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) CTGATGAACTAAAGACTTTTG 0.353 36 111 --- --- --- --- VPS4A 27183 broad.mit.edu 37 16 69355168 69355168 + Frame_Shift_Del DEL A A - TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:69355168delA ENST00000254950.11 + 9 1222 c.1066delA c.(1066-1068)aafs p.K357fs COG8_ENST00000564419.1_Intron NM_013245.2 NP_037377.1 Q9UN37 VPS4A_HUMAN vacuolar protein sorting 4 homolog A (S. cerevisiae) 357 cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7 Ovarian(137;0.101) CACACACTTCAAAAAGGTGAG 0.587 2 4 --- --- --- --- USP10 9100 broad.mit.edu 37 16 84779250 84779250 + Frame_Shift_Del DEL C C - TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr16:84779250delC ENST00000219473.7 + 4 1276 c.1163delC c.(1162-1164)tafs p.S388fs USP10_ENST00000570191.1_Frame_Shift_Del_p.S392fs NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 388 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 GTTCCGGTTTCAGAGGATCCT 0.468 9 19 --- --- --- --- CCDC144B 284047 broad.mit.edu 37 17 18498059 18498060 + RNA INS - - A rs66528329 TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:18498059_18498060insA ENST00000442583.1 - 0 898_899 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTAAGTTGTTCATCAGCAACAT 0.406 4 7 --- --- --- --- PRKAR1A 5573 broad.mit.edu 37 17 66511673 66511673 + Frame_Shift_Del DEL A A - TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr17:66511673delA ENST00000589228.1 + 2 261 c.133delA c.(133-135)gafs p.R45fs PRKAR1A_ENST00000392711.1_Frame_Shift_Del_p.R45fs|PRKAR1A_ENST00000358598.2_Frame_Shift_Del_p.R45fs|PRKAR1A_ENST00000536854.2_Frame_Shift_Del_p.R45fs|PRKAR1A_ENST00000588188.2_Frame_Shift_Del_p.R45fs|PRKAR1A_ENST00000586397.1_Frame_Shift_Del_p.R45fs NM_001276289.1|NM_001278433.1 NP_001263218.1|NP_001265362.1 P10644 KAP0_HUMAN protein kinase, cAMP-dependent, regulatory, type I, alpha 45 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1) 31 Breast(10;1.64e-13) TCGACCTGAGAGACCCATGGC 0.453 """T, Mis, N, F, S""" RET papillary thyroid """myxoma, endocrine, papillary thyroid""" Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of 17 28 --- --- --- --- CLASRP 11129 broad.mit.edu 37 19 45567607 45567609 + In_Frame_Del DEL CTC CTC - TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chr19:45567607_45567609delCTC ENST00000544944.2 + 12 1820_1822 c.1128_1130delCTC c.(1126-1131)cgc>cg p.RS376del CLASRP_ENST00000391953.4_In_Frame_Del_p.RS314del|CLASRP_ENST00000221455.3_In_Frame_Del_p.RS376del Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 376 Arg-rich. mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 GCAGCCGCCGctcctcctcctcc 0.744 6 12 --- --- --- --- SYN1 6853 broad.mit.edu 37 X 47434113 47434113 + Frame_Shift_Del DEL G G - TCGA-BF-A3DL-01A-11D-A20D-08 TCGA-BF-A3DL-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69e158a8-b36a-41ca-b734-95f28e6678da 37fb4b74-e0ed-42d7-9460-05778af2eaf5 g.chrX:47434113delG ENST00000295987.7 - 11 1491 c.1367delC c.(1366-1368)cgfs p.P456fs SYN1_ENST00000340666.4_Frame_Shift_Del_p.P456fs NM_006950.3 NP_008881.2 P17600 SYN1_HUMAN synapsin I 456 D; Pro-rich linker. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 CTGCTGAGCCGGGGGCCCTGC 0.672 2 4 --- --- --- ---