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 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 141 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643302 1643302 + Missense_Mutation SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr11:1643302C>T ENST00000399682.1 - 1 66 c.22G>A c.(22-24)Gga>Aga p.G8R NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 8 keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccacagcctcCAGAGCAGCCA 0.682000 6 455 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179484433 179484433 + Missense_Mutation SNP C C A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr2:179484433C>A ENST00000589042.1 - 250 46835 c.46611G>T c.(46609-46611)caG>caT p.Q15537H TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q6472H|TTN_ENST00000342992.6_Missense_Mutation_p.Q12969H|TTN_ENST00000359218.5_Missense_Mutation_p.Q6597H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q13896H|TTN_ENST00000342175.6_Missense_Mutation_p.Q6664H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13896 Fibronectin type-III 13. 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) TATCACAAATCTGTAGTCGAT 0.413000 84 140 5.01443e-46 5.64916e-46 1 1 0 SLC12A4 6560 broad.mit.edu 37 16 67983743 67983743 + Missense_Mutation SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr16:67983743G>A ENST00000422611.2 - 12 1753 c.1714C>T c.(1714-1716)Ctc>Ttc p.L572F SLC12A4_ENST00000541864.2_Missense_Mutation_p.L539F|SLC12A4_ENST00000576616.1_Missense_Mutation_p.L570F|SLC12A4_ENST00000338335.3_Missense_Mutation_p.L570F|SLC12A4_ENST00000572037.1_Missense_Mutation_p.L522F|SLC12A4_ENST00000537830.2_Missense_Mutation_p.L564F|SLC12A4_ENST00000316341.3_Missense_Mutation_p.L570F NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 570 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) GAGGCGATGAGGATGCCCAGC 0.632000 8 24 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53571424 53571424 + Missense_Mutation SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr19:53571424C>T ENST00000601421.1 - 3 3131 c.2255G>A c.(2254-2256)cGt>cAt p.R752H ZNF160_ENST00000599056.1_Missense_Mutation_p.R788H|ZNF160_ENST00000429604.1_Missense_Mutation_p.R788H|ZNF160_ENST00000418871.1_Missense_Mutation_p.R788H Q9HCG1 ZN160_HUMAN zinc finger protein 160 788 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) ACATTTGTAACGCTTTTCTCC 0.443000 4 172 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98495430 98495430 + Missense_Mutation SNP A A G TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr7:98495430A>G ENST00000359863.4 + 8 783 c.574A>G c.(574-576)Atg>Gtg p.M192V TRRAP_ENST00000446306.3_Missense_Mutation_p.M192V|TRRAP_ENST00000355540.3_Missense_Mutation_p.M192V NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 192 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AATGGTTGGTATGATAACAAC 0.443000 98 114 0 0 1 0 0 OSBP 5007 broad.mit.edu 37 11 59361581 59361581 + Missense_Mutation SNP T T C TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr11:59361581T>C ENST00000263847.1 - 8 1938 c.1459A>G c.(1459-1461)Act>Gct p.T487A NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 487 lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) CGGAAGACAGTAGTGGAGTAG 0.498000 28 49 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511959 195511959 + Silent SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr3:195511959G>A ENST00000463781.3 - 2 6951 c.6492C>T c.(6490-6492)acC>acT p.T2164T MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2164T|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 943 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGAAGTGTCGGTGACAGGAA 0.577000 6 6 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179077240 179077240 + Silent SNP C C T rs148651616 TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr1:179077240C>T ENST00000502732.1 - 12 3365 c.3162G>A c.(3160-3162)tcG>tcA p.S1054S ABL2_ENST00000507173.1_Silent_p.S930S|ABL2_ENST00000408940.3_Silent_p.S1018S|ABL2_ENST00000344730.3_Silent_p.S936S|ABL2_ENST00000367623.4_Silent_p.S1033S|ABL2_ENST00000511413.1_Silent_p.S951S|ABL2_ENST00000504405.1_Silent_p.S915S|ABL2_ENST00000512653.1_Silent_p.S1039S NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 1054 F-actin-binding (By similarity).|Pro-rich. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.S1018S(1)|p.S1054S(1)|p.S1039S(1) breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TTTTGGCTGGCGAGATGGAAG 0.542000 T ETV6 AML 34 92 0 0 1 0 0 NXPE4 54827 broad.mit.edu 37 11 114441792 114441792 + Missense_Mutation SNP G G T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr11:114441792G>T ENST00000375478.3 - 6 1683 c.1503C>A c.(1501-1503)gaC>gaA p.D501E NXPE4_ENST00000424261.2_Missense_Mutation_p.D217E NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 CCTGGAAAATGTCCTTTATGA 0.368000 74 27 5.91718e-24 6.42231e-24 1 1 0 COL27A1 85301 broad.mit.edu 37 9 117062952 117062952 + Silent SNP G G T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr9:117062952G>T ENST00000356083.3 + 51 5077 c.4686G>T c.(4684-4686)ggG>ggT p.G1562G NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1562 Collagen-like 16.|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 GCCCTCGGGGGCCACCTGGCT 0.612000 16 30 1.02788e-11 1.03956e-11 1 1 0 LST3 0 broad.mit.edu 37 12 21201743 21201743 + Silent SNP A A T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr12:21201743A>T ENST00000381541.3 + 9 1298 c.1233A>T c.(1231-1233)gcA>gcT p.A411A SLCO1B7_ENST00000421593.2_Silent_p.A364A|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.A411A|SLCO1B3_ENST00000553473.1_Intron CCAAATTGGCATTTTGTTCTG 0.388000 23 37 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10317327 10317327 + Missense_Mutation SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr17:10317327C>T ENST00000403437.2 - 12 1133 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 347 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 ACTTTCTCTTCAGGAGTGAAG 0.433000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 61 112 0 0 1 0 0 DLGAP5 9787 broad.mit.edu 37 14 55647979 55647979 + Missense_Mutation SNP C C A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr14:55647979C>A ENST00000247191.2 - 5 748 c.532G>T c.(532-534)Ggt>Tgt p.G178C DLGAP5_ENST00000395425.2_Missense_Mutation_p.G178C NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 178 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 TGTCTTGGACCAGGTCGGATT 0.348000 49 69 9.86064e-34 1.097e-33 1 1 0 CDH9 1007 broad.mit.edu 37 5 26906904 26906904 + Silent SNP G G T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr5:26906904G>T ENST00000231021.4 - 4 739 c.567C>A c.(565-567)gcC>gcA p.A189A NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 189 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TTCCATAGTTGGCGTCATCTG 0.408000 49 72 3.39706e-21 3.55692e-21 1 1 0 OR10G3 26533 broad.mit.edu 37 14 22038026 22038026 + Missense_Mutation SNP G G T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr14:22038026G>T ENST00000303532.1 - 1 849 c.850C>A c.(850-852)Ctc>Atc p.L284I NM_001005465.1 NP_001005465.1 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, member 3 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7) 15 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) AGGGGGTTGAGGAAAGGAGTG 0.552000 55 86 6.60958e-23 7.00301e-23 1 1 0 DACH1 1602 broad.mit.edu 37 13 72049862 72049862 + Missense_Mutation SNP T T C TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr13:72049862T>C ENST00000305425.4 - 9 2418 c.1996A>G c.(1996-1998)Aca>Gca p.T666A DACH1_ENST00000313174.7_Missense_Mutation_p.T518A|DACH1_ENST00000354591.4_Missense_Mutation_p.T464A|DACH1_ENST00000359684.2_Missense_Mutation_p.T718A NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 716 DACHbox-C.|Interaction with SIN3A (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AGACTATCTGTTGAAGCTGCC 0.398000 179 399 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139350103 139350103 + Missense_Mutation SNP G G T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr9:139350103G>T ENST00000313050.7 - 18 5880 c.5807C>A c.(5806-5808)cCt>cAt p.P1936H SEC16A_ENST00000371706.3_Missense_Mutation_p.P1758H|SEC16A_ENST00000290037.6_Missense_Mutation_p.P1758H|SEC16A_ENST00000431893.2_Missense_Mutation_p.P1758H NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1758 Pro-rich.|Required for interaction with SEC23A. 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) GCTCGGTGCAGGCACCGCCAG 0.677000 3 12 0.115264 0.115264 1 1 0 PGM2L1 283209 broad.mit.edu 37 11 74053584 74053584 + Silent SNP T T C TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr11:74053584T>C ENST00000298198.4 - 12 1865 c.1554A>G c.(1552-1554)aaA>aaG p.K518K NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 518 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) TTCCACAAAATTTTGGATATT 0.328000 211 124 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48575159 48575159 + Missense_Mutation SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr18:48575159C>T ENST00000342988.3 + 3 891 c.353C>T c.(352-354)gCg>gTg p.A118V SMAD4_ENST00000588745.1_Missense_Mutation_p.A118V|SMAD4_ENST00000452201.2_Missense_Mutation_p.A118V|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.A118V NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 118 MH1. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(4)|p.A118V(2)|p.A118E(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGTCAGTATGCGTTTGACTTA 0.398000 34 16 0 0 1 0 0 MYEOV2 150678 broad.mit.edu 37 2 241075705 241075705 + Silent SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr2:241075705G>A ENST00000307266.3 - 1 59 c.60C>T c.(58-60)ccC>ccT p.P20P MYEOV2_ENST00000607357.1_5'UTR NM_138336.1 NP_612209.1 Q8WXC6 MYOV2_HUMAN myeloma overexpressed 2 0 breast(1)|lung(5)|pancreas(1) 7 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) GCTTCATCTCGGGGCCGCGGC 0.731000 4 10 0 0 1 0 0 NOC2L 26155 broad.mit.edu 37 1 889227 889227 + Missense_Mutation SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr1:889227G>A ENST00000327044.6 - 8 872 c.823C>T c.(823-825)Cgg>Tgg p.R275W NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 275 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CTGATGTGCCGCAGCACGGCC 0.617000 4 68 0 0 1 0 0 HMCES 56941 broad.mit.edu 37 3 129023602 129023602 + Silent SNP C C G TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr3:129023602C>G ENST00000383463.4 + 7 1088 c.999C>G c.(997-999)ctC>ctG p.L333L C3orf37_ENST00000502878.2_Silent_p.L333L|C3orf37_ENST00000417226.2_Silent_p.L291L|C3orf37_ENST00000389735.3_Silent_p.L333L NM_020187.2 NP_064572.2 Q96FZ2 CC037_HUMAN 333 breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4) 14 CTGCAGGACTCCTAGAGCAAT 0.552000 13 62 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89953721 89953721 + Splice_Site SNP G G T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr5:89953721G>T ENST00000405460.2 + 21 4474 c.e21-1 NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCTAATTTCAGGTCCTGGGAT 0.393000 31 15 1.99505e-19 2.06465e-19 1 1 0 EPPK1 83481 broad.mit.edu 37 8 144940411 144940411 + Silent SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr8:144940411G>A ENST00000525985.1 - 2 7082 c.7011C>T c.(7009-7011)cgC>cgT p.R2337R P58107 EPIPL_HUMAN epiplakin 1 2337 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCTCCAGCAGGCGGATGCCGT 0.701000 52 1226 0 0 1 0 0 ALS2 57679 broad.mit.edu 37 2 202631979 202631979 + Missense_Mutation SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr2:202631979C>T ENST00000264276.6 - 3 520 c.148G>A c.(148-150)Gtg>Atg p.V50M ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.V50M NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 50 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 CCATGTTTCACTCCGAGGGCT 0.488000 49 44 0 0 1 0 0 TRAJ10 28745 broad.mit.edu 37 14 23002505 23002505 + RNA SNP C C A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr14:23002505C>A ENST00000390527.1 + 0 61 AAAAGTGGAACTCAGTAAGTA 0.368000 49 129 6.31075e-24 6.76695e-24 1 1 0 HMCES 56941 broad.mit.edu 37 3 129023505 129023505 + Nonsense_Mutation SNP C C G TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr3:129023505C>G ENST00000383463.4 + 7 991 c.902C>G c.(901-903)tCa>tGa p.S301* C3orf37_ENST00000502878.2_Nonsense_Mutation_p.S301*|C3orf37_ENST00000417226.2_Nonsense_Mutation_p.S259*|C3orf37_ENST00000389735.3_Nonsense_Mutation_p.S301* NM_020187.2 NP_064572.2 Q96FZ2 CC037_HUMAN 301 breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4) 14 AAGGAAGACTCAAAAACACCT 0.507000 29 143 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18333077 18333077 + Missense_Mutation SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr19:18333077C>T ENST00000355502.3 - 6 1170 c.299G>A c.(298-300)aGc>aAc p.S100N PDE4C_ENST00000262805.11_Missense_Mutation_p.S68N|PDE4C_ENST00000594465.2_Missense_Mutation_p.S100N|PDE4C_ENST00000447275.2_5'UTR|PDE4C_ENST00000594617.2_Missense_Mutation_p.S100N Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 100 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) CAGGCCAGGGCTGGACTGAGG 0.612000 7 78 0 0 1 0 0 ZRSR2 8233 broad.mit.edu 37 X 15841049 15841049 + Missense_Mutation SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chrX:15841049G>A ENST00000307771.7 + 11 1157 c.1133G>A c.(1132-1134)cGg>cAg p.R378Q NM_005089.3 NP_005080.1 Q15696 U2AFM_HUMAN zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 378 spliceosome assembly U12-type spliceosomal complex nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2) 48 Hepatocellular(33;0.183) AGCAGGCTGCGGGGAAGGAGA 0.532000 """F, S, Mis""" """MDS, CLL""" 37 55 0 0 1 0 0 TEKT4P2 100132288 broad.mit.edu 37 21 9907198 9907198 + RNA SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr21:9907198C>T ENST00000416067.1 - 0 1594 NR_037872.1|NR_038327.1 GTGCAGAAAGCTAACGCACTG 0.592000 3 17 0 0 1 0 0 SCAI 286205 broad.mit.edu 37 9 127738413 127738413 + Missense_Mutation SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr9:127738413G>A ENST00000336505.5 - 15 1437 c.1379C>T c.(1378-1380)gCa>gTa p.A460V SCAI_ENST00000373549.4_Missense_Mutation_p.A483V NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion 460 negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 TTTTGGATATGCTGTAGGAGA 0.333000 15 105 0 0 1 0 0 SLF2 55719 broad.mit.edu 37 10 102676438 102676438 + Missense_Mutation SNP C C G TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr10:102676438C>G ENST00000238961.3 + 3 444 c.296C>G c.(295-297)tCt>tGt p.S99C FAM178A_ENST00000370269.3_Missense_Mutation_p.S99C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S99C NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 99 CCAAAAGAATCTAAACCCAAA 0.393000 30 58 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158596713 158596713 + Missense_Mutation SNP T T C TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr1:158596713T>C ENST00000368148.3 - 41 5929 c.5749A>G c.(5749-5751)Ata>Gta p.I1917V SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.I1914V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1917 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CAAGCAGCTATTGCCTTAGCC 0.458000 117 131 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139350102 139350102 + Silent SNP A A C TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr9:139350102A>C ENST00000313050.7 - 18 5881 c.5808T>G c.(5806-5808)ccT>ccG p.P1936P SEC16A_ENST00000371706.3_Silent_p.P1758P|SEC16A_ENST00000290037.6_Silent_p.P1758P|SEC16A_ENST00000431893.2_Silent_p.P1758P NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1758 Pro-rich.|Required for interaction with SEC23A. 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) GGCTCGGTGCAGGCACCGCCA 0.677000 3 12 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128304107 128304107 + Missense_Mutation SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr6:128304107G>A ENST00000368227.3 - 25 3823 c.3457C>T c.(3457-3459)Cat>Tat p.H1153Y PTPRK_ENST00000368210.3_Missense_Mutation_p.H1154Y|PTPRK_ENST00000368207.3_Missense_Mutation_p.H1168Y|PTPRK_ENST00000368226.4_Missense_Mutation_p.H1136Y|PTPRK_ENST00000532331.1_Missense_Mutation_p.H1158Y|PTPRK_ENST00000368213.5_Missense_Mutation_p.H1142Y|PTPRK_ENST00000368215.3_Missense_Mutation_p.H1135Y Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1135 cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ATGGCATCATGAATAAAAATG 0.318000 49 67 0 0 1 0 0 SCARF1 8578 broad.mit.edu 37 17 1542221 1542221 + Splice_Site SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr17:1542221C>T ENST00000263071.4 - 8 1293 c.e8-1 SCARF1_ENST00000571272.1_Splice_Site|SCARF1_ENST00000348987.3_Splice_Site NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CTGCCAGAGCCTGGGGGAGCC 0.627000 31 38 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120582451 120582451 + Missense_Mutation SNP T T C TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr12:120582451T>C ENST00000300648.6 - 41 5356 c.5344A>G c.(5344-5346)Atc>Gtc p.I1782V NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1782 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACTTTGAGGATACAGGGGATG 0.532000 38 100 0 0 1 0 0 SAFB 6294 broad.mit.edu 37 19 5657268 5657268 + Missense_Mutation SNP A A C TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr19:5657268A>C ENST00000292123.5 + 14 1879 c.1772A>C c.(1771-1773)gAt>gCt p.D591A SAFB_ENST00000454510.1_Missense_Mutation_p.D522A|SAFB_ENST00000433404.1_Missense_Mutation_p.D421A|SAFB_ENST00000592224.1_Missense_Mutation_p.D591A|SAFB_ENST00000588852.1_Missense_Mutation_p.D591A|SAFB_ENST00000538656.1_Missense_Mutation_p.D434A NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 591 Interaction with POLR2A. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) AAAAGCCAGGATCGCAAATCA 0.493000 24 60 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53303097 53303097 + Silent SNP T T C TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr19:53303097T>C ENST00000438150.2 - 2 2735 c.1842A>G c.(1840-1842)gaA>gaG p.E614E ZNF28_ENST00000457749.2_Silent_p.E667E|ZNF28_ENST00000360272.4_Silent_p.E614E|ZNF28_ENST00000414252.2_Silent_p.E614E P17035 ZNF28_HUMAN zinc finger protein 28 667 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) CCTTGCCACATTCATTACACT 0.423000 45 194 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561648 11561648 + Missense_Mutation SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr1:11561648G>A ENST00000294484.6 + 2 737 c.599G>A c.(598-600)aGc>aAc p.S200N PTCHD2_ENST00000389575.3_Missense_Mutation_p.S200N NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 200 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) GCCAATCGGAGCGGGCGACTT 0.682000 6 13 0 0 1 0 0 SFSWAP 6433 broad.mit.edu 37 12 132240012 132240012 + Silent SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr12:132240012C>T ENST00000261674.4 + 10 1677 c.1536C>T c.(1534-1536)ggC>ggT p.G512G SFSWAP_ENST00000541286.1_Silent_p.G512G NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 512 G -> S (in dbSNP:rs34541796). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding p.G512G(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AAGAAGGGGGCGATAGCATGC 0.478000 OREG0022261 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 70 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245847604 245847604 + Silent SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr1:245847604G>A ENST00000366518.4 + 8 1289 c.1185G>A c.(1183-1185)gcG>gcA p.A395A KIF26B_ENST00000407071.2_Silent_p.A776A Q2KJY2 KI26B_HUMAN kinesin family member 26B 776 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CCATGATCGCGCACATCTCGG 0.542000 19 56 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240637438 240637438 + Missense_Mutation SNP T T C TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr1:240637438T>C ENST00000319653.9 + 18 5383 c.5153T>C c.(5152-5154)aTa>aCa p.I1718T FMN2_ENST00000545751.1_Missense_Mutation_p.I314T|FMN2_ENST00000543681.1_Missense_Mutation_p.I38T|AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000496950.1_3'UTR NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1718 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AAAGCAAAGATAAGCATGAAA 0.333000 47 57 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53303125 53303125 + Missense_Mutation SNP C C G TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr19:53303125C>G ENST00000438150.2 - 2 2707 c.1814G>C c.(1813-1815)aGt>aCt p.S605T ZNF28_ENST00000457749.2_Missense_Mutation_p.S658T|ZNF28_ENST00000360272.4_Missense_Mutation_p.S605T|ZNF28_ENST00000414252.2_Missense_Mutation_p.S605T P17035 ZNF28_HUMAN zinc finger protein 28 658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TTTCTCTCCACTATGAAGCCT 0.428000 22 214 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100086348 100086348 + Missense_Mutation SNP C C T rs141511133 TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr7:100086348C>T ENST00000423930.1 + 4 1163 c.1004C>T c.(1003-1005)cCt>cTt p.P335L NYAP1_ENST00000454988.1_Missense_Mutation_p.P278L|NYAP1_ENST00000300179.2_Missense_Mutation_p.P335L Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 335 Pro-rich. CAGCACCGGCCTCCACTCCTG 0.672000 42 67 0 0 1 0 0 CCBL2 56267 broad.mit.edu 37 1 89427797 89427797 + Missense_Mutation SNP T T C TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr1:89427797T>C ENST00000260508.4 - 6 822 c.485A>G c.(484-486)tAt>tGt p.Y162C CCBL2_ENST00000370491.3_Missense_Mutation_p.Y128C|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR NM_001008661.2 NP_001008661.1 Q6YP21 KAT3_HUMAN cysteine conjugate-beta lyase 2 162 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1) 18 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CATGGGCTCATAGCAGTCATA 0.378000 23 79 0 0 1 0 0 KCNJ12 3768 broad.mit.edu 37 17 21318755 21318755 + Missense_Mutation SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr17:21318755G>A ENST00000583088.1 + 3 996 c.101G>A c.(100-102)gGc>gAc p.G34D KCNJ12_ENST00000331718.5_Missense_Mutation_p.G34D 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) TTCGGCAACGGCAAGGTGCAC 0.632000 Prostate(3;0.18) 6 94 0 0 1 0 0 ZNF30 90075 broad.mit.edu 37 19 35435232 35435232 + Missense_Mutation SNP A A C TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr19:35435232A>C ENST00000439785.1 + 5 1809 c.1365A>C c.(1363-1365)aaA>aaC p.K455N ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.K455N|ZNF30_ENST00000601142.1_Missense_Mutation_p.K454N|ZNF30_ENST00000426813.2_Missense_Mutation_p.K373N NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) CTGGAGAGAAACCCTATGAGT 0.443000 18 50 0 0 1 0 0 HMCES 56941 broad.mit.edu 37 3 129023529 129023529 + Missense_Mutation SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr3:129023529C>T ENST00000383463.4 + 7 1015 c.926C>T c.(925-927)tCa>tTa p.S309L C3orf37_ENST00000502878.2_Missense_Mutation_p.S309L|C3orf37_ENST00000417226.2_Missense_Mutation_p.S267L|C3orf37_ENST00000389735.3_Missense_Mutation_p.S309L NM_020187.2 NP_064572.2 Q96FZ2 CC037_HUMAN 309 breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4) 14 AAGGAAGAGTCAGATGTTCCC 0.532000 22 107 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149492440 149492440 + RNA SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr7:149492440G>A ENST00000378016.2 + 0 6329 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGGCACGCTGGAGGGGATGCT 0.657000 13 15 0 0 1 0 0 ZFAND4 93550 broad.mit.edu 37 10 46121831 46121831 + Silent SNP T T C TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr10:46121831T>C ENST00000374366.3 - 8 1683 c.1218A>G c.(1216-1218)ccA>ccG p.P406P ZFAND4_ENST00000344646.5_Silent_p.P480P|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR Q86XD8 ANUB1_HUMAN zinc finger, AN1-type domain 4 480 zinc ion binding GTAGCGACATTGGTGCAGAAC 0.438000 88 216 0 0 1 0 0 LAMTOR2 28956 broad.mit.edu 37 1 156024746 156024746 + Silent SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr1:156024746C>T ENST00000368305.4 + 1 204 c.66C>T c.(64-66)acC>acT p.T22T LAMTOR2_ENST00000368302.3_Silent_p.T22T|LAMTOR2_ENST00000368304.5_Silent_p.T22T|LAMTOR2_ENST00000489664.1_3'UTR NM_014017.3 NP_054736.1 Q9Y2Q5 LTOR2_HUMAN late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 22 cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosomal membrane|Ragulator complex breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 7 TCCAGAGCACCCTGTGAGTGC 0.662000 17 15 0 0 1 0 0 MRPL51 51258 broad.mit.edu 37 12 6601546 6601546 + Missense_Mutation SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr12:6601546C>T ENST00000229238.3 - 3 739 c.278G>A c.(277-279)cGa>cAa p.R93Q MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_5'UTR NM_016497.3 NP_057581.2 Q4U2R6 RM51_HUMAN mitochondrial ribosomal protein L51 93 translation mitochondrial large ribosomal subunit protein binding|structural constituent of ribosome kidney(2)|large_intestine(1)|lung(3) 6 TTTCCTCTTTCGGATACAACG 0.443000 194 447 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96525610 96525610 + Splice_Site SNP T T C TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr2:96525610T>C ENST00000456556.1 - 61 3979 c.3896_splice c.e61+1 p.R1299_splice ANKRD36C_ENST00000419039.2_Splice_Site_p.R326_splice|ANKRD36C_ENST00000420871.2_Splice_Site_p.R550_splice ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AGGTCATACCTCAAACTACAG 0.299000 3 19 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 4 230 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921051 24921051 + Missense_Mutation SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr15:24921051C>T ENST00000329468.2 + 1 511 c.37C>T c.(37-39)Cgc>Tgc p.R13C NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ACCCGGGTGCCGCCGCCGGCC 0.667000 20 11 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11586758 11586758 + Missense_Mutation SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr1:11586758G>A ENST00000294484.6 + 13 2802 c.2664G>A c.(2662-2664)atG>atA p.M888I PTCHD2_ENST00000389575.3_Missense_Mutation_p.M888I NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 888 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) CCGCTTGTATGTCTACAGTAG 0.572000 136 209 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55147083 55147083 + Missense_Mutation SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr6:55147083G>A ENST00000370862.3 + 7 1502 c.1166G>A c.(1165-1167)cGc>cAc p.R389H NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 389 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) GTTCACCATCGCCAGGAGGAT 0.443000 21 36 0 0 1 0 0 POMZP3 22932 broad.mit.edu 37 7 76254879 76254879 + Missense_Mutation SNP C C G TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr7:76254879C>G ENST00000310842.4 - 3 871 c.187G>C c.(187-189)Gaa>Caa p.E63Q POMZP3_ENST00000275569.4_Missense_Mutation_p.E63Q|UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron NM_012230.3 NP_036362.3 Q6PJE2 POZP3_HUMAN POM121 and ZP3 fusion 63 kidney(3)|lung(2) 5 Myeloproliferative disorder(862;0.204) ATTTGGTCTTCTTCCTCCACT 0.468000 5 374 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179433613 179433613 + Missense_Mutation SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr2:179433613G>A ENST00000589042.1 - 326 77470 c.77246C>T c.(77245-77247)gCt>gTt p.A25749V TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A16684V|TTN_ENST00000342992.6_Missense_Mutation_p.A23181V|TTN_ENST00000359218.5_Missense_Mutation_p.A16809V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A24108V|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A16876V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24108 Fibronectin type-III 87. 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) CTTTACTCGAGCACACTCTGA 0.398000 4 175 0 0 1 0 0 U2SURP 23350 broad.mit.edu 37 3 142731068 142731068 + Translation_Start_Site SNP A A T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr3:142731068A>T ENST00000397933.2 + 0 194 U2SURP_ENST00000493598.2_Missense_Mutation_p.D32V|U2SURP_ENST00000473835.2_Missense_Mutation_p.D32V O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 CTGAAGATGGATGCATCTGGA 0.383000 30 20 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53202561 53202561 + Missense_Mutation SNP T T C TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr12:53202561T>C ENST00000551956.1 - 5 1400 c.908A>G c.(907-909)gAc>gGc p.D303G KRT4_ENST00000458244.2_Missense_Mutation_p.D283G|KRT4_ENST00000293774.4_Missense_Mutation_p.D377G B4DRS2 B4DRS2_HUMAN keratin 4 303 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 GCTGTCCAGGTCCAGGTTGCG 0.587000 22 77 0 0 1 0 0 SAFB 6294 broad.mit.edu 37 19 5657267 5657267 + Missense_Mutation SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr19:5657267G>A ENST00000292123.5 + 14 1878 c.1771G>A c.(1771-1773)Gat>Aat p.D591N SAFB_ENST00000454510.1_Missense_Mutation_p.D522N|SAFB_ENST00000433404.1_Missense_Mutation_p.D421N|SAFB_ENST00000592224.1_Missense_Mutation_p.D591N|SAFB_ENST00000588852.1_Missense_Mutation_p.D591N|SAFB_ENST00000538656.1_Missense_Mutation_p.D434N NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 591 Interaction with POLR2A. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) CAAAAGCCAGGATCGCAAATC 0.488000 24 58 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 4 129 0 0 1 0 0 BBS4 585 broad.mit.edu 37 15 73028230 73028230 + Missense_Mutation SNP G G T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr15:73028230G>T ENST00000268057.4 + 14 1212 c.1171G>T c.(1171-1173)Gcc>Tcc p.A391S BBS4_ENST00000542334.1_Missense_Mutation_p.A219S|BBS4_ENST00000539603.1_Missense_Mutation_p.A379S|BBS4_ENST00000395205.2_Missense_Mutation_p.A399S NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 391 Required for localization to centrosomes. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 GAAGAAGAACGCCCTGGCCCA 0.483000 Bardet-Biedl syndrome 64 221 3.94839e-29 4.33836e-29 1 1 0 FNIP1 96459 broad.mit.edu 37 5 131008049 131008049 + Missense_Mutation SNP C C A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr5:131008049C>A ENST00000307968.7 - 13 2003 c.2004G>T c.(2002-2004)gaG>gaT p.E668D FNIP1_ENST00000307954.8_Missense_Mutation_p.E651D|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.E696D NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) CTAAGCCTGACTCTGACAATG 0.433000 159 69 3.14662e-72 3.637e-72 1 1 0 DEFB116 245930 broad.mit.edu 37 20 29891139 29891139 + Missense_Mutation SNP G G T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr20:29891139G>T ENST00000400549.1 - 2 184 c.185C>A c.(184-186)cCa>cAa p.P62Q NM_001037731.1 NP_001032820.1 Q30KQ4 DB116_HUMAN defensin, beta 116 62 defense response to bacterium extracellular region p.P62Q(1) kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TTGATCATTTGGGCAGGTTAA 0.423000 133 278 2.8866e-50 3.29369e-50 1 1 0 MYH15 22989 broad.mit.edu 37 3 108183634 108183634 + Missense_Mutation SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr3:108183634C>T ENST00000273353.3 - 16 1698 c.1642G>A c.(1642-1644)Gaa>Aaa p.E548K NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 548 Myosin head-like. 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 ATACACTCTTCTTCAAGGATG 0.433000 79 43 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28357065 28357065 + Silent SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr15:28357065G>A ENST00000261609.7 - 93 14457 c.14349C>T c.(14347-14349)taC>taT p.Y4783Y NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4783 HECT. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AGTGGATGGCGTACTTGAGCT 0.552000 38 68 0 0 1 0 0 HOXD9 3235 broad.mit.edu 37 2 176988776 176988776 + Missense_Mutation SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr2:176988776C>T ENST00000249499.6 + 2 1341 c.932C>T c.(931-933)aCc>aTc p.T311I HOXD-AS2_ENST00000440016.2_RNA NM_014213.3 NP_055028.3 P28356 HXD9_HUMAN homeobox D9 311 nucleus sequence-specific DNA binding endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) ATGTACCTCACCCGGGACCGG 0.507000 78 96 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138377224 138377224 + Missense_Mutation SNP C C T rs149000148 byFrequency TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr9:138377224C>T ENST00000356818.2 + 4 1417 c.868C>T c.(868-870)Cgc>Tgc p.R290C PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R290C|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R290C|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R290C|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R290C NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 290 nucleolus protein binding GTTTGCCTTCCGCAAACCTCC 0.587000 88 109 0 0 1 0 0 TIMP1 7076 broad.mit.edu 37 X 47445926 47445926 + Missense_Mutation SNP C C T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chrX:47445926C>T ENST00000218388.4 + 6 630 c.460C>T c.(460-462)Ccc>Tcc p.P154S SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377017.1_Missense_Mutation_p.P90S|SYN1_ENST00000340666.4_Intron NM_003254.2 NP_003245.1 P01033 TIMP1_HUMAN TIMP metallopeptidase inhibitor 1 154 erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation platelet alpha granule lumen metal ion binding|metalloendopeptidase inhibitor activity|protein binding endometrium(1)|large_intestine(2) 3 CCAGGTGTTTCCCTGTTTATC 0.572000 36 9 0 0 1 0 0 PSMA3 5684 broad.mit.edu 37 14 58714471 58714471 + Missense_Mutation SNP G G A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr14:58714471G>A ENST00000216455.4 + 2 115 c.25G>A c.(25-27)Gac>Aac p.D9N PSMA3_ENST00000412908.2_Missense_Mutation_p.D9N|PSMA3_ENST00000557508.1_Intron NM_002788.3|NM_152132.2 NP_002779.1|NP_687033.1 P25788 PSA3_HUMAN proteasome (prosome, macropain) subunit, alpha type, 3 9 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2) 12 CCTTAAGTATGACCTGTCAGC 0.403000 43 77 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)del p.Q570del TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 8 172 --- --- --- --- CTD-2296D1.4 0 broad.mit.edu 37 5 7372948 7372950 + RNA DEL ACC ACC - TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr5:7372948_7372950delACC ENST00000513219.1 - 0 202 taccatcattaccaccaccacca 0.507 3 4 --- --- --- --- GPRIN1 114787 broad.mit.edu 37 5 176026120 176026143 + In_Frame_Del DEL CTCAAAGACCCAGGATCCTCCTTC CTCAAAGACCCAGGATCCTCCTTC - rs146584332 byFrequency TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr5:176026120_176026143delCTCAAAGACCCAGGATCCTCCTTC ENST00000303991.4 - 2 870_893 c.693_716delGAAGGAGGATCCTGGGTCTTTGAG c.(691-717)aga>ag p.RKEDPGSLR231del NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 231 Missing (in Ref. 4; CAD38868). growth cone|plasma membrane p.L238L(1) NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATCCACCTTTCTCAAAGACCCAGGATCCTCCTTCCTCGGTGACA 0.491 69 106 --- --- --- --- ZNRD1-AS1 80862 broad.mit.edu 37 6 29970905 29970906 + RNA INS - - G rs139061936 by1000genomes TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr6:29970905_29970906insG ENST00000376797.3 - 0 1548 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA gctgaggccctcttcccatggg 0.545 6 2 --- --- --- --- TRBV7-6 28592 broad.mit.edu 37 7 142139663 142139666 + RNA DEL CGCC CGCC - TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr7:142139663_142139666delCGCC ENST00000390374.3 - 0 94 cacacacacacgcccacacgccta 0.475 8 102 --- --- --- --- EBLN1 340900 broad.mit.edu 37 10 22498484 22498485 + In_Frame_Ins INS - - AGA rs145490621 by1000genomes TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr10:22498484_22498485insAGA ENST00000422359.2 - 1 465_466 c.428_429insTCT c.(427-429)cat>cTCTat p.143_143H>LY NM_001199938.1 NP_001186867.1 endogenous Bornavirus-like nucleoprotein 1 CAATGCCTATCAGATCACAGCA 0.455 3 4 --- --- --- --- NOC4L 79050 broad.mit.edu 37 12 132629117 132629118 + Frame_Shift_Ins INS - - A TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr12:132629117_132629118insA ENST00000330579.1 + 1 125_126 c.84_85insA c.(82-87)gcacgcfs p.R29fs NM_024078.1 NP_076983.1 Q9BVI4 NOC4L_HUMAN nucleolar complex associated 4 homolog (S. cerevisiae) 29 rRNA processing integral to membrane|nuclear membrane|nucleolus protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2) 14 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05) GCAGTGAGGCCAACGCCGTGTT 0.762 2 4 --- --- --- --- TMEM255B 348013 broad.mit.edu 37 13 114503876 114503957 + Splice_Site DEL CCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACA CCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACA - rs9577890 by1000genomes TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr13:114503876_114503957delCCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACA ENST00000375353.3 + 6 527_536 c.509_splice c.e6+1 p.167_splice NM_182614.2 NP_872420.1 transmembrane protein 255B GACCTCTATGCCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACACCTGCGGGAG 0.652 9 27 --- --- --- --- FSCB 84075 broad.mit.edu 37 14 44974154 44974155 + In_Frame_Ins INS - - GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG rs71108655 byFrequency TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr14:44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG ENST00000340446.4 - 1 2327_2328 c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC c.(2035-2037)cgc>cCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCgc p.678_679insPLKFSLHQLRRP NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 678 Ala-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) GAACTTCAGCAGGGGCCTCCTC 0.604 13 32 --- --- --- --- PRIMA1 145270 broad.mit.edu 37 14 94187794 94187811 + In_Frame_Del DEL ACCACTGCGTTGTTCACG ACCACTGCGTTGTTCACG - rs145428699 TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr14:94187794_94187811delACCACTGCGTTGTTCACG ENST00000393140.1 - 5 543_560 c.441_458delCGTGAACAACGCAGTGGT c.(439-459)gag>ga p.DVNNAVV147del PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_In_Frame_Del_p.DVNNAVV147del NM_178013.3 NP_821092.1 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 147 neurotransmitter catabolic process cell junction|integral to membrane|synapse endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) GCAGACTCACACCACTGCGTTGTTCACGTCTACTCCTT 0.573 25 46 --- --- --- --- LOC645752 645752 broad.mit.edu 37 15 78215586 78215587 + RNA INS - - T TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr15:78215586_78215587insT ENST00000567226.1 - 0 225 AAAATGAGAAATTTAAAAAAAA 0.441 2 4 --- --- --- --- C16orf3 750 broad.mit.edu 37 16 90095597 90095598 + In_Frame_Ins INS - - GGGGCAGCCTACGGGGCAGGCTGC rs61118444 by1000genomes TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr16:90095597_90095598insGGGGCAGCCTACGGGGCAGGCTGC ENST00000408886.2 - 1 711_712 c.153_154insGCAGCCTGCCCCGTAGGCTGCCCC c.(151-156)cctagc>ccGCAGCCTGCCCCGTAGGCTGCCCCtagc p.50_51insPQPAP*AA GAS8_ENST00000540721.1_Intron|GAS8_ENST00000268699.4_Intron|GAS8_ENST00000536122.1_Intron NM_001214.3 NP_001205.3 O95177 CP003_HUMAN chromosome 16 open reading frame 3 50 Missing (in short isoform). large_intestine(1)|lung(2)|prostate(1) 4 all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239) BRCA - Breast invasive adenocarcinoma(80;0.0272) gggcaggctatggggcagccta 0.663 16 29 --- --- --- --- EFTUD2 9343 broad.mit.edu 37 17 42931928 42931930 + In_Frame_Del DEL GAG GAG - TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr17:42931928_42931930delGAG ENST00000426333.2 - 22 2550_2552 c.2253_2255delCTC c.(2251-2256)cct>cc p.PS751del EFTUD2_ENST00000402521.3_In_Frame_Del_p.PS716del|EFTUD2_ENST00000592576.1_In_Frame_Del_p.PS741del|EFTUD2_ENST00000591382.1_In_Frame_Del_p.PS751del NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 751 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) CTGTACCTCAGAGGGCAGAGTAT 0.522 52 115 --- --- --- --- GRIN3B 116444 broad.mit.edu 37 19 1009186 1009188 + In_Frame_Del DEL AGC AGC - TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr19:1009186_1009188delAGC ENST00000234389.3 + 9 2736_2738 c.2717_2719delAGC c.(2716-2721)gag>g p.EQ906del NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 906 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCCGAGGTGGagcagcagcagca 0.744 2 4 --- --- --- --- LONP1 9361 broad.mit.edu 37 19 5693347 5693349 + In_Frame_Del DEL TCT TCT - TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr19:5693347_5693349delTCT ENST00000360614.3 - 17 2820_2822 c.2663_2665delAGA c.(2662-2667)atc>a p.KI888del LONP1_ENST00000590729.1_In_Frame_Del_p.KI758del|LONP1_ENST00000540670.2_In_Frame_Del_p.KI692del|LONP1_ENST00000585374.1_In_Frame_Del_p.KI774del|LONP1_ENST00000593119.1_In_Frame_Del_p.KI824del NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 888 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACAGGCAGGATCTTGCCCGTGAG 0.650 28 61 --- --- --- --- ZNF444 55311 broad.mit.edu 37 19 56671273 56671281 + In_Frame_Del DEL CCCCGGCAG CCCCGGCAG - rs60359254 TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr19:56671273_56671281delCCCCGGCAG ENST00000337080.3 + 5 1054_1062 c.687_695delCCCCGGCAG c.(685-696)cac>ca p.HPGS229del ZNF444_ENST00000592949.1_In_Frame_Del_p.HPGS228del|ZNF444_ENST00000592171.1_3'UTR NM_001253792.1|NM_018337.3 NP_001240721.1|NP_060807.2 Q8N0Y2 ZN444_HUMAN zinc finger protein 444 229 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|lung(5) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0531) GCGACACGCACCCCGGCAGCCCCGGCAGC 0.746 4 4 --- --- --- --- MIR99AHG 388815 broad.mit.edu 37 21 17443416 17443417 + RNA DEL TG TG - TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chr21:17443416_17443417delTG ENST00000458468.1 + 0 27 NR_027790.1 TTTTTCTTTTTGTGTGTGTGTG 0.431 7 252 --- --- --- --- BTK 695 broad.mit.edu 37 X 100611872 100611873 + Frame_Shift_Ins INS - - CACTA TCGA-UF-A7JC-01A-21D-A34J-08 TCGA-UF-A7JC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2820f3ac-cef4-4c55-b7ba-be73748ae4d0 c04921c6-79f9-494f-bd2c-ecf08573ee4b g.chrX:100611872_100611873insCACTA ENST00000308731.7 - 14 1411_1412 c.1248_1249insTAGTG c.(1246-1251)gtagtafs p.V417fs BTK_ENST00000372880.1_Intron NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 417 Protein kinase. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTCCCATACTTCACTACCCCAA 0.441 Agammaglobulinemia, X-linked 157 112 --- --- --- ---