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 PICALM 8301 broad.mit.edu 37 11 85779727 85779727 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:85779727G>A ENST00000526033.1 - 1 412 c.96C>T c.(94-96)caC>caT p.H32H PICALM_ENST00000356360.5_Silent_p.H32H|PICALM_ENST00000528398.1_Intron|PICALM_ENST00000393346.3_Silent_p.H32H|PICALM_ENST00000532317.1_Silent_p.H32H|PICALM_ENST00000528411.1_5'UTR NM_001206946.1|NM_007166.3 NP_001193875.1|NP_009097.2 Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 32 ENTH. clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) CCATGATCTCGTGGGTCGTGG 0.662000 T """MLLT10, MLL""" """TALL, AML, """ 3 22 0 0 0.115264 0 0 CSMD2 114784 broad.mit.edu 37 1 34049245 34049245 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:34049245C>G ENST00000373381.4 - 47 7413 c.7237G>C c.(7237-7239)Gat>Cat p.D2413H NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2415 CUB 14. integral to membrane|plasma membrane protein binding p.D2415fs*1(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GACTTACCATCAAAAATCTCA 0.493000 20 98 0 0 0.069288 0 0 ZNF208 7757 broad.mit.edu 37 19 22156351 22156351 + Missense_Mutation SNP T T G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:22156351T>G ENST00000397126.4 - 4 1633 c.1485A>C c.(1483-1485)aaA>aaC p.K495N ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_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) ATTTGTAGGGTTTCTCTCCAG 0.373000 8 25 0 0 0.038147 0 0 MYBPC1 4604 broad.mit.edu 37 12 102025384 102025384 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr12:102025384G>A ENST00000549145.1 + 6 389 c.289G>A c.(289-291)Gaa>Aaa p.E97K MYBPC1_ENST00000547405.1_Missense_Mutation_p.E58K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E109K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E109K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E84K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E72K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E84K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E84K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E71K|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E84K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E70K Q00872 MYPC1_HUMAN myosin binding protein C, slow type 84 Ig-like C2-type 1. KWFKG -> NGSR (in Ref. 1; CAA46987). cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 AGTCAAGGCTGAAGATCTTCT 0.438000 15 79 0 0 0.119110 0 0 TRPM3 80036 broad.mit.edu 37 9 73225627 73225627 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr9:73225627C>G ENST00000377110.2 - 18 2772 c.2529G>C c.(2527-2529)aaG>aaC p.K843N TRPM3_ENST00000396292.4_Missense_Mutation_p.K715N|TRPM3_ENST00000357533.2_Missense_Mutation_p.K847N|TRPM3_ENST00000360823.2_Missense_Mutation_p.K705N|TRPM3_ENST00000377106.1_Missense_Mutation_p.K715N|TRPM3_ENST00000423814.3_Missense_Mutation_p.K870N|TRPM3_ENST00000377105.1_Missense_Mutation_p.K702N|TRPM3_ENST00000358082.3_Missense_Mutation_p.K705N|TRPM3_ENST00000408909.2_Missense_Mutation_p.K702N|TRPM3_ENST00000396280.5_Missense_Mutation_p.K692N|TRPM3_ENST00000377111.2_Missense_Mutation_p.K843N|TRPM3_ENST00000396285.1_Missense_Mutation_p.K690N NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 868 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CTTCATCCTTCTTCCTGGAGG 0.473000 12 94 0 0 0.105934 0 0 MESDC1 59274 broad.mit.edu 37 15 81295306 81295306 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr15:81295306G>A ENST00000267984.2 + 1 2012 c.694G>A c.(694-696)Gtg>Atg p.V232M NM_022566.2 NP_072088.1 Q9H1K6 MESD1_HUMAN mesoderm development candidate 1 232 endometrium(1)|lung(2) 3 GCTGGCCTGCGTGCGCGAGGT 0.697000 4 16 0 0 0.014758 0 0 FAM208B 54906 broad.mit.edu 37 10 5781788 5781788 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr10:5781788C>T ENST00000328090.5 + 13 2280 c.1655C>T c.(1654-1656)tCt>tTt p.S552F RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 552 ACACCAGTATCTGAGGCTAGA 0.403000 29 78 0 0 0.125774 0 0 PAK7 57144 broad.mit.edu 37 20 9547019 9547019 + Nonsense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr20:9547019G>A ENST00000378429.3 - 6 1549 c.1003C>T c.(1003-1005)Cga>Tga p.R335* PAK7_ENST00000378423.1_Nonsense_Mutation_p.R335*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.R335* NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 335 Linker. R -> P (in dbSNP:rs11700112). ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) ATCTGTGCTCGATCGTAATCC 0.537000 23 90 0 0 0.062417 0 0 CABP1 9478 broad.mit.edu 37 12 121094058 121094058 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr12:121094058G>A ENST00000453000.1 + 1 957 c.445G>A c.(445-447)Gct>Act p.A149T CABP1_ENST00000316803.3_Intron|CABP1_ENST00000288616.3_Missense_Mutation_p.A70T|CABP1_ENST00000351200.2_Intron Q9NZU7 CABP1_HUMAN calcium binding protein 1 0 Pro-rich. cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAAGGGCTTCGCTGAGAACAG 0.617000 6 17 0 0 0.029380 0 0 COL17A1 1308 broad.mit.edu 37 10 105796297 105796297 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr10:105796297G>C ENST00000353479.5 - 48 3661 c.3371C>G c.(3370-3372)tCt>tGt p.S1124C COL17A1_ENST00000369733.3_Missense_Mutation_p.S1079C NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 1124 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) ATAGTCCAAAGACAGGAGGGA 0.592000 7 25 0 0 0.038147 0 0 CDON 50937 broad.mit.edu 37 11 125891182 125891182 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:125891182C>T ENST00000392693.3 - 3 437 c.310G>A c.(310-312)Ggt>Agt p.G104S CDON_ENST00000263577.7_Missense_Mutation_p.G104S NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 104 Ig-like C2-type 1. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) ACAATGGCACCGATGCTATTG 0.433000 5 31 0 0 0.014758 0 0 ZNF408 79797 broad.mit.edu 37 11 46726882 46726882 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:46726882C>G ENST00000311764.2 + 5 1862 c.1632C>G c.(1630-1632)atC>atG p.I544M NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 544 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCCATCTCATCTCACACACCG 0.677000 10 24 0 0 0.069234 0 0 SCAF4 57466 broad.mit.edu 37 21 33067131 33067131 + Nonsense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr21:33067131G>A ENST00000286835.7 - 10 1613 c.1231C>T c.(1231-1233)Cag>Tag p.Q411* SCAF4_ENST00000434667.3_Nonsense_Mutation_p.Q396*|SCAF4_ENST00000399804.1_Nonsense_Mutation_p.Q411* NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 411 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TTTACCTGCTGATGCGGCTTC 0.408000 12 40 0 0 0.093190 0 0 PCDH10 57575 broad.mit.edu 37 4 134076091 134076091 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr4:134076091G>A ENST00000264360.4 + 3 3536 c.2710G>A c.(2710-2712)Gac>Aac p.D904N NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 904 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CCAGGAAGCCGACATAGTAAG 0.433000 12 26 0 0 0.093190 0 0 TAGLN 6876 broad.mit.edu 37 11 117075058 117075058 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:117075058C>T ENST00000532870.1 + 4 1730 c.589C>T c.(589-591)Cgg>Tgg p.R197W TAGLN_ENST00000530649.1_Missense_Mutation_p.R197W|TAGLN_ENST00000392951.4_Missense_Mutation_p.R197W|PCSK7_ENST00000320934.3_3'UTR Q01995 TAGL_HUMAN transgelin 197 muscle organ development cytoplasm actin binding central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1) 7 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435) CGGACGACCTCGGCAGATCAT 0.647000 16 49 0 0 0.146539 0 0 USP15 9958 broad.mit.edu 37 12 62708688 62708688 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr12:62708688G>A ENST00000280377.5 + 4 524 c.466G>A c.(466-468)Gac>Aac p.D156N USP15_ENST00000312635.6_Missense_Mutation_p.D156N|USP15_ENST00000353364.3_Missense_Mutation_p.D156N|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.D156N NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 156 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) TAGCAAAGCTGACACAATAGG 0.308000 34 137 0 0 0.064281 0 0 ZNF568 374900 broad.mit.edu 37 19 37440743 37440743 + Missense_Mutation SNP G G T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:37440743G>T ENST00000415168.1 + 5 872 c.496G>T c.(496-498)Gac>Tac p.D166Y ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.D230Y NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 230 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTGTGGACAAGACTTCAGTCA 0.398000 14 72 2.61681e-11 2.79069e-11 0.119110 1 0 KIF24 347240 broad.mit.edu 37 9 34286638 34286638 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr9:34286638C>G ENST00000379166.2 - 6 1311 c.1192G>C c.(1192-1194)Gac>Cac p.D398H KIF24_ENST00000379174.3_Intron|KIF24_ENST00000345050.2_Intron|KIF24_ENST00000402558.2_Missense_Mutation_p.D398H NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 398 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) TCCACACTGTCCACCTGAAGC 0.443000 9 55 0 0 0.047766 0 0 SIN3B 23309 broad.mit.edu 37 19 16980676 16980676 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:16980676G>A ENST00000379803.1 + 14 2322 c.2308G>A c.(2308-2310)Gat>Aat p.D770N SIN3B_ENST00000595541.1_Missense_Mutation_p.D328N|SIN3B_ENST00000248054.5_Missense_Mutation_p.D738N NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 770 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 GCCCCTGGACGATGTCTACAG 0.642000 7 25 0 0 0.038147 0 0 C1QTNF2 114898 broad.mit.edu 37 5 159776351 159776351 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:159776351C>T ENST00000393975.3 - 3 820 c.817G>A c.(817-819)Ggc>Agc p.G273S NM_031908.4 NP_114114.2 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 228 C1q. collagen breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 13 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCGTGGTTGCCGGTGTTGGCA 0.577000 4 91 0 0 0.150653 0 0 RSAD2 91543 broad.mit.edu 37 2 7035928 7035928 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:7035928G>A ENST00000382040.3 + 6 1077 c.941G>A c.(940-942)aGa>aAa p.R314K RSAD2_ENST00000541728.1_Missense_Mutation_p.R207K NM_080657.4 NP_542388.2 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 2 314 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1) 20 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) CTGAACTGTAGAAAGGGACGG 0.378000 12 50 0 0 0.105934 0 0 CDK3 1018 broad.mit.edu 37 17 73998157 73998157 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr17:73998157C>T ENST00000425876.2 + 3 337 c.249C>T c.(247-249)ctC>ctT p.L83L TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Silent_p.L83L Q00526 CDK3_HUMAN cyclin-dependent kinase 3 83 Protein kinase. cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 TTGAGTTCCTCAGCCAGGACC 0.572000 14 54 0 0 0.132662 0 0 CKB 1152 broad.mit.edu 37 14 103986629 103986629 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr14:103986629G>A ENST00000348956.2 - 7 1154 c.797C>T c.(796-798)tCt>tTt p.S266F NM_001823.4 NP_001814.2 P12277 KCRB_HUMAN creatine kinase, brain 266 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity lung(2)|prostate(1) 3 Melanoma(154;0.155) Epithelial(46;0.14) Creatine(DB00148) ATAGTCCTTAGACTTGAAGAG 0.567000 8 35 0 0 0.038147 0 0 KPNA5 3841 broad.mit.edu 37 6 117047696 117047696 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr6:117047696G>C ENST00000368564.1 + 12 1312 c.1164G>C c.(1162-1164)gaG>gaC p.E388D KPNA5_ENST00000356348.1_Missense_Mutation_p.E388D O15131 IMA5_HUMAN karyopherin alpha 5 (importin alpha 6) 385 NLS binding site (minor) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) TTTTGATTGAGATTCTTCAGA 0.338000 22 67 0 0 0.076483 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 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 40 0 0 0.115264 0 0 TCHH 7062 broad.mit.edu 37 1 152083791 152083791 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:152083791C>T ENST00000368804.1 - 2 1901 c.1902G>A c.(1900-1902)ctG>ctA p.L634L NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 634 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTCGCTCTTCAGCAGCTGCT 0.672000 22 46 0 0 0.069288 0 0 MAP2K7 5609 broad.mit.edu 37 19 7968931 7968931 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:7968931C>T ENST00000545011.1 + 1 167 c.102C>T c.(100-102)atC>atT p.I34I MAP2K7_ENST00000397979.3_Silent_p.I34I|MAP2K7_ENST00000397981.3_Silent_p.I34I|MAP2K7_ENST00000397983.3_Silent_p.I34I O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 34 activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) ACCTGGATATCAGCCCCCAGC 0.741000 5 12 0 0 0.014758 0 0 TTN 7273 broad.mit.edu 37 2 179427277 179427277 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:179427277G>C ENST00000589042.1 - 326 83806 c.83582C>G c.(83581-83583)tCt>tGt p.S27861C TTN_ENST00000342992.6_Missense_Mutation_p.S25293C|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S18988C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S18796C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S26220C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S18921C|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26220 Ig-like 130. 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) GGGTGGTTCAGACACTTTAAC 0.443000 10 48 0 0 0.058154 0 0 ST5 6764 broad.mit.edu 37 11 8751512 8751512 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:8751512C>T ENST00000534127.1 - 6 1710 c.1325G>A c.(1324-1326)cGc>cAc p.R442H ST5_ENST00000357665.1_Missense_Mutation_p.R442H|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R442H|ST5_ENST00000526757.1_Intron NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 442 Interaction with ABL1. positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CTGGGACTTGCGGTGACCACG 0.577000 6 409 0 0 0.021553 0 0 LDHB 3945 broad.mit.edu 37 12 21794926 21794926 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr12:21794926G>A ENST00000396076.1 - 5 887 c.555C>T c.(553-555)agC>agT p.S185S LDHB_ENST00000350669.1_Silent_p.S185S NM_001174097.1 NP_001167568.1 P07195 LDHB_HUMAN lactate dehydrogenase B 185 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 26 NADH(DB00157) ATCCATGGCAGCTGCTGGGAT 0.408000 13 56 0 0 0.105934 0 0 RINT1 60561 broad.mit.edu 37 7 105183014 105183014 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:105183014C>G ENST00000257700.2 + 4 664 c.433C>G c.(433-435)Ctt>Gtt p.L145V NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 145 cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 GATGGACGATCTTGGAACCAT 0.413000 19 34 0 0 0.043863 0 0 KIRREL2 84063 broad.mit.edu 37 19 36357325 36357325 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:36357325C>T ENST00000360202.5 + 15 2256 c.2058C>T c.(2056-2058)ccC>ccT p.P686P KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000586102.2_Silent_p.P666P|KIRREL2_ENST00000592409.1_Silent_p.P651P|NPHS1_ENST00000591817.1_Intron NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 686 Pro-rich. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ATCTGGCCCCCGGGACTCCCC 0.592000 26 71 0 0 0.116897 0 0 GABRG1 2565 broad.mit.edu 37 4 46043203 46043203 + Silent SNP A A G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr4:46043203A>G ENST00000295452.4 - 9 1367 c.1200T>C c.(1198-1200)gaT>gaC p.D400D NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 400 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) ACCCATAATCATCTTCTTGCG 0.423000 16 37 0 0 0.146539 0 0 FPR2 2358 broad.mit.edu 37 19 52272800 52272800 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:52272800C>T ENST00000598776.1 + 2 1661 c.889C>T c.(889-891)Ctc>Ttc p.L297F FPR2_ENST00000598953.1_Missense_Mutation_p.L297F|FPR2_ENST00000340023.6_Missense_Mutation_p.L297F NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 297 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 CAACAGCTGCCTCAACCCCAT 0.542000 23 52 0 0 0.099896 0 0 GPR112 139378 broad.mit.edu 37 X 135429302 135429302 + Nonsense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chrX:135429302C>G ENST00000394143.1 + 6 3728 c.3437C>G c.(3436-3438)tCa>tGa p.S1146* GPR112_ENST00000412101.1_Nonsense_Mutation_p.S941*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.S941*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.S1146*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.S1083* NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1146 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTTGTCTGCTCAAAACCTCCC 0.488000 3 155 0 0 0.115264 0 0 ABCF3 55324 broad.mit.edu 37 3 183910898 183910898 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:183910898G>A ENST00000429586.2 + 19 1944 c.1759G>A c.(1759-1761)Gag>Aag p.E587K ABCF3_ENST00000292808.5_Missense_Mutation_p.E581K|EIF2B5_ENST00000444495.1_Intron NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 587 ABC transporter 2. ATP binding|ATPase activity p.E587Q(1) breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGGCGGCCTGAGGAGGAGTA 0.632000 12 39 0 0 0.105934 0 0 BTN3A3 10384 broad.mit.edu 37 6 26452578 26452578 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr6:26452578C>T ENST00000244519.2 + 11 1937 c.1694C>T c.(1693-1695)tCc>tTc p.S565F BTN3A3_ENST00000361232.3_Missense_Mutation_p.S516F|BTN3A3_ENST00000339789.4_Missense_Mutation_p.S523F NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 565 integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 GCTGAGGTCTCCCCTTCTGCA 0.493000 9 19 0 0 0.069234 0 0 UBFD1 56061 broad.mit.edu 37 16 23570850 23570850 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr16:23570850G>A ENST00000395878.3 + 3 798 c.417G>A c.(415-417)ttG>ttA p.L139L UBFD1_ENST00000219638.4_Silent_p.L363L|UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000567264.1_Silent_p.L139L|UBFD1_ENST00000567212.1_Silent_p.L130L NM_019116.2 NP_061989.2 O14562 UBFD1_HUMAN ubiquitin family domain containing 1 139 Ubiquitin-like. endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GBM - Glioblastoma multiforme(48;0.0331) ATAAAACATTGAGAGAAATAA 0.488000 5 27 0 0 0.021553 0 0 OR5R1 219479 broad.mit.edu 37 11 56185150 56185150 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:56185150G>C ENST00000312253.1 - 1 558 c.559C>G c.(559-561)Ctg>Gtg p.L187V NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) GAGCAGGACAGAGCTAAGAAG 0.448000 15 54 0 0 0.119110 0 0 LOC401127 401127 broad.mit.edu 37 4 39482422 39482422 + RNA SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr4:39482422G>A ENST00000513652.1 + 0 429 AAACCTTGAAGATACGGGACG 0.463000 14 23 0 0 0.105934 0 0 FCN2 2220 broad.mit.edu 37 9 137777654 137777654 + Missense_Mutation SNP G G T rs56281005 TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr9:137777654G>T ENST00000350339.2 + 5 370 c.356G>T c.(355-357)cGg>cTg p.R119L FCN2_ENST00000291744.6_Missense_Mutation_p.R157L NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 157 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) GACTTCTACCGGGACTGGGCC 0.677000 3 58 0.115264 0.117834 0.115264 1 0 PLCE1 51196 broad.mit.edu 37 10 95791053 95791053 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr10:95791053G>C ENST00000260766.3 + 2 884 c.250G>C c.(250-252)Gag>Cag p.E84Q PLCE1_ENST00000371380.2_Missense_Mutation_p.E84Q NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 84 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AGTGAGTGATGAGAACAGTAA 0.383000 25 58 0 0 0.091800 0 0 FBLN2 2199 broad.mit.edu 37 3 13655526 13655526 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:13655526G>A ENST00000404922.3 + 5 1710 c.1591G>A c.(1591-1593)Gag>Aag p.E531K FBLN2_ENST00000492059.1_Missense_Mutation_p.E531K|FBLN2_ENST00000295760.7_Missense_Mutation_p.E531K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E557K NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 531 Anaphylatoxin-like 3. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CGTGCGGGCCGAGGGCCAGTC 0.597000 12 41 0 0 0.093190 0 0 PDE1C 5137 broad.mit.edu 37 7 31918650 31918650 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:31918650C>G ENST00000396184.3 - 5 588 c.384G>C c.(382-384)aaG>aaC p.K128N PDE1C_ENST00000321453.7_Missense_Mutation_p.K128N|PDE1C_ENST00000396193.1_Missense_Mutation_p.K188N|PDE1C_ENST00000396191.1_Missense_Mutation_p.K128N|PDE1C_ENST00000396182.2_Missense_Mutation_p.K128N NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 128 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) GAACGATGCTCTTGAACCGGG 0.532000 21 62 0 0 0.076483 0 0 PCBP1 5093 broad.mit.edu 37 2 70315832 70315832 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:70315832G>A ENST00000303577.5 + 1 1248 c.957G>A c.(955-957)gtG>gtA p.V319V PCBP1-AS1_ENST00000596028.1_RNA NM_006196.3 NP_006187.2 Q15365 PCBP1_HUMAN poly(rC) binding protein 1 319 KH 3. nuclear mRNA splicing, via spliceosome cytoplasm|nucleoplasm|ribonucleoprotein complex protein binding|RNA binding|single-stranded DNA binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1) 12 CCAACCCAGTGGAAGGCTCCT 0.512000 15 34 0 0 0.160694 0 0 PC 5091 broad.mit.edu 37 11 66617476 66617476 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:66617476C>T ENST00000393960.1 - 20 3111 c.2830G>A c.(2830-2832)Gtg>Atg p.V944M PC_ENST00000393958.2_Missense_Mutation_p.V944M|PC_ENST00000529047.1_Missense_Mutation_p.V64M|PC_ENST00000393955.2_Missense_Mutation_p.V944M NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 944 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) AACTCCACCACGGAGCGGGGA 0.627000 9 70 0 0 0.047766 0 0 PPP1R11 6992 broad.mit.edu 37 6 30037047 30037047 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr6:30037047C>G ENST00000376772.3 + 3 668 c.345C>G c.(343-345)gaC>gaG p.D115E PPP1R11_ENST00000376773.1_Missense_Mutation_p.D63E|PPP1R11_ENST00000376769.2_Missense_Mutation_p.D63E|PPP1R11_ENST00000376758.1_Missense_Mutation_p.D63E|PPP1R11_ENST00000376765.2_Missense_Mutation_p.D63E|PPP1R11_ENST00000376763.1_Missense_Mutation_p.D63E NM_021959.2 NP_068778.1 O60927 PP1RB_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 11 115 Pro-rich. soluble fraction protein binding|protein phosphatase inhibitor activity lung(2)|ovary(1)|prostate(1)|skin(2) 6 AGCCTCCTGACCCTTCCCAGC 0.597000 19 88 0 0 0.062417 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50659487 50659487 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr22:50659487G>A ENST00000439308.2 - 16 3793 c.3301C>T c.(3301-3303)Cgg>Tgg p.R1101W TUBGCP6_ENST00000248846.5_Missense_Mutation_p.R1101W|TUBGCP6_ENST00000491449.1_5'UTR NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1101 9 X 27 AA tandem repeats. 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) CACCGTGGCCGAGTGGGAGCC 0.597000 20 111 0 0 0.049695 0 0 CNTN1 1272 broad.mit.edu 37 12 41374736 41374736 + Silent SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr12:41374736G>C ENST00000551295.2 + 16 1947 c.1830G>C c.(1828-1830)ctG>ctC p.L610L CNTN1_ENST00000347616.1_Silent_p.L610L|CNTN1_ENST00000348761.2_Silent_p.L599L NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 610 Fibronectin type-III 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CAGGTGGTCTGAGAATAGAAG 0.413000 30 130 0 0 0.134883 0 0 SHROOM1 134549 broad.mit.edu 37 5 132159668 132159668 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:132159668G>A ENST00000378679.3 - 7 2489 c.1685C>T c.(1684-1686)tCc>tTc p.S562F SHROOM1_ENST00000378676.1_Missense_Mutation_p.S493F|SHROOM1_ENST00000319854.3_Missense_Mutation_p.S562F NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 562 ASD2. actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCTGGGCTGGGAAGCAAGAGG 0.632000 18 32 0 0 0.175082 0 0 FAT2 2196 broad.mit.edu 37 5 150946494 150946494 + Missense_Mutation SNP G G T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:150946494G>T ENST00000261800.5 - 1 2011 c.1999C>A c.(1999-2001)Cct>Act p.P667T NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 667 Cadherin 5. 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) CATGTTACAGGAACTTCAAAA 0.423000 22 99 3.62473e-10 3.84006e-10 0.062417 1 0 WDR64 128025 broad.mit.edu 37 1 241850813 241850813 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:241850813C>T ENST00000366552.2 + 7 1067 c.860C>T c.(859-861)tCa>tTa p.S287L WDR64_ENST00000437684.2_Missense_Mutation_p.S287L NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 287 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) AGATATATTTCAGCCCTAAAT 0.343000 20 83 0 0 0.043863 0 0 CLOCK 9575 broad.mit.edu 37 4 56310880 56310880 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr4:56310880C>G ENST00000309964.4 - 18 1862 c.1612G>C c.(1612-1614)Gaa>Caa p.E538Q CLOCK_ENST00000513440.1_Missense_Mutation_p.E538Q|CLOCK_ENST00000381322.1_Missense_Mutation_p.E538Q NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 538 Implicated in the circadian rhythmicity (By similarity). circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) ATATTTGCTTCTATCATGCGT 0.388000 13 50 0 0 0.093190 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64084754 64084754 + Missense_Mutation SNP C C A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:64084754C>A ENST00000295902.6 - 8 3093 c.2508G>T c.(2506-2508)caG>caT p.Q836H RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.Q892H NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 836 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) TTTTGCTCTTCTGTCTTTTCC 0.438000 29 72 9.39395e-14 1.00851e-13 0.116897 1 0 LHFPL1 340596 broad.mit.edu 37 X 111874751 111874751 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chrX:111874751G>C ENST00000371968.3 - 4 799 c.560C>G c.(559-561)tCt>tGt p.S187C LHFPL1_ENST00000536453.1_Missense_Mutation_p.S154C|LHFPL1_ENST00000478229.1_5'UTR NM_178175.3 NP_835469.1 Q86WI0 LHPL1_HUMAN lipoma HMGIC fusion partner-like 1 187 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6) 13 AGCAAAGCAAGAGAGCCAGGT 0.512000 21 74 0 0 0.055883 0 0 TUBB4A 10382 broad.mit.edu 37 19 6495568 6495568 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:6495568G>A ENST00000264071.2 - 4 1313 c.942C>T c.(940-942)gcC>gcT p.A314A TUBB4A_ENST00000540257.1_Silent_p.A314A P04350 TBB4_HUMAN tubulin, beta 4A class IVa 314 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity GGAACACGGCGGCCACGGTCA 0.647000 24 99 0 0 0.083992 0 0 TBC1D8 11138 broad.mit.edu 37 2 101624355 101624355 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:101624355G>A ENST00000409318.1 - 20 3526 c.3396C>T c.(3394-3396)atC>atT p.I1132I RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000376840.4_Silent_p.I1117I|RPL31_ENST00000409650.1_Intron NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 1117 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 TGTACTGATTGATCTTGGCAT 0.383000 39 129 0 0 0.086207 0 0 EFNB1 1947 broad.mit.edu 37 X 68058611 68058611 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chrX:68058611G>A ENST00000204961.4 + 2 1060 c.280G>A c.(280-282)Gac>Aac p.D94N NM_004429.4 NP_004420.1 P98172 EFNB1_HUMAN ephrin-B1 94 cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 22 CACAGTTCTCGACCCCAACGT 0.567000 6 12 0 0 0.021553 0 0 NBR2 10230 broad.mit.edu 37 17 41290987 41290987 + RNA SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr17:41290987C>T ENST00000460115.1 + 0 490 NR_003108.1 ccacaaccttcaccacctcta 0.463000 15 33 0 0 0.146539 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250460 140250460 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:140250460C>T ENST00000398640.2 + 1 1772 c.1772C>T c.(1771-1773)gCg>gTg p.A591V PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGTGGTGGCGAAGGTGCGC 0.682000 55 82 0 0 0.139131 0 0 KALRN 8997 broad.mit.edu 37 3 123987636 123987636 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:123987636C>T ENST00000360013.3 + 5 624 c.497C>T c.(496-498)tCc>tTc p.S166F KALRN_ENST00000240874.3_Missense_Mutation_p.S166F|KALRN_ENST00000460856.1_Missense_Mutation_p.S166F NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 166 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GTGGACCCCTCCCAGCTGACG 0.577000 8 47 0 0 0.038147 0 0 CNOT6 57472 broad.mit.edu 37 5 179998330 179998330 + Silent SNP G G A rs34154769 TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:179998330G>A ENST00000393356.1 + 13 1783 c.1359G>A c.(1357-1359)ggG>ggA p.G453G CNOT6_ENST00000261951.4_Silent_p.G453G Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 453 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) GCTGTCATGGGAAGAATGGAA 0.403000 26 51 0 0 0.083992 0 0 POLQ 10721 broad.mit.edu 37 3 121207996 121207996 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:121207996C>T ENST00000264233.5 - 16 3910 c.3782G>A c.(3781-3783)aGa>aAa p.R1261K NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1261 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TATCACAGTTCTGCTTATATC 0.343000 DNA polymerases (catalytic subunits) 38 151 0 0 0.117977 0 0 HIBCH 26275 broad.mit.edu 37 2 191155142 191155142 + Missense_Mutation SNP T T C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:191155142T>C ENST00000392332.3 - 5 513 c.374A>G c.(373-375)aAt>aGt p.N125S HIBCH_ENST00000359678.5_Missense_Mutation_p.N125S Q6NVY1 HIBCH_HUMAN 3-hydroxyisobutyryl-CoA hydrolase 125 branched chain family amino acid catabolic process mitochondrial matrix 3-hydroxyisobutyryl-CoA hydrolase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814) AACAGCATTATTCAGCATATA 0.343000 15 28 0 0 0.119110 0 0 TMUB1 83590 broad.mit.edu 37 7 150779330 150779330 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:150779330C>T ENST00000392818.3 - 2 678 c.321G>A c.(319-321)ctG>ctA p.L107L TMUB1_ENST00000482202.1_Silent_p.L107L|TMUB1_ENST00000476627.1_Silent_p.L107L|TMUB1_ENST00000297533.4_Silent_p.L107L|TMUB1_ENST00000462940.1_Silent_p.L107L NM_031434.3 NP_113622.1 Q9BVT8 TMUB1_HUMAN transmembrane and ubiquitin-like domain containing 1 107 Ubiquitin-like. cytoplasm|integral to membrane|nucleus endometrium(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGAGGAATTTCAGCCGTAGCA 0.597000 68 200 0 0 0.139131 0 0 BHLHE40 8553 broad.mit.edu 37 3 5025027 5025027 + Missense_Mutation SNP G G A rs141865687 TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:5025027G>A ENST00000256495.3 + 5 1492 c.889G>A c.(889-891)Gat>Aat p.D297N NM_003670.2 NP_003661.1 O14503 BHE40_HUMAN basic helix-loop-helix family, member e40 297 Golgi apparatus|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2) 12 GCTTTCGGATGATGAAGGCCA 0.562000 9 62 0 0 0.058154 0 0 AIFM3 150209 broad.mit.edu 37 22 21322208 21322208 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr22:21322208G>A ENST00000335375.5 + 2 157 c.50G>A c.(49-51)tGc>tAc p.C17Y AIFM3_ENST00000333607.6_5'UTR|AIFM3_ENST00000399163.2_5'UTR|AIFM3_ENST00000399167.2_5'UTR|AIFM3_ENST00000440238.2_5'UTR|AIFM3_ENST00000405089.1_5'UTR apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GCTCCTGCCTGCCGGCCATCC 0.662000 10 29 0 0 0.093190 0 0 SHANK2 22941 broad.mit.edu 37 11 70331881 70331881 + Missense_Mutation SNP G G A rs146717159 TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:70331881G>A ENST00000338508.4 - 32 4519 c.4520C>T c.(4519-4521)aCg>aTg p.T1507M SHANK2_ENST00000409161.1_Missense_Mutation_p.T910M|SHANK2_ENST00000423696.2_Missense_Mutation_p.T1127M|SHANK2_ENST00000449833.2_Missense_Mutation_p.T911M Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1127 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) AGTGCTGGTCGTCTCGAGGTG 0.587000 27 51 0 0 0.099896 0 0 WDR62 284403 broad.mit.edu 37 19 36558321 36558321 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:36558321C>T ENST00000401500.2 + 6 710 c.675C>T c.(673-675)ttC>ttT p.F225F WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Silent_p.F225F|WDR62_ENST00000270301.7_Silent_p.F225F NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 225 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) GGTTCTGGTTCTTGGAAGTCT 0.532000 8 56 0 0 0.047766 0 0 OR2AT4 341152 broad.mit.edu 37 11 74799942 74799942 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:74799942G>A ENST00000305159.3 - 1 857 c.817C>T c.(817-819)Ctt>Ttt p.L273F NM_001005285.1 NP_001005285.1 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, member 4 273 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 TGGAAGTCAAGGGGCAGGTCA 0.522000 19 62 0 0 0.069288 0 0 AVPR1B 553 broad.mit.edu 37 1 206224835 206224835 + Missense_Mutation SNP G G A rs41314448 TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:206224835G>A ENST00000367126.4 + 1 860 c.395G>A c.(394-396)cGc>cAc p.R132H NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 132 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) ACGCTGGACCGCTACCTGGCT 0.657000 15 62 0 0 0.132662 0 0 MCMDC2 157777 broad.mit.edu 37 8 67808488 67808488 + Nonsense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr8:67808488C>T ENST00000422365.2 + 11 1534 c.1363C>T c.(1363-1365)Cag>Tag p.Q455* MCMDC2_ENST00000541540.1_Nonsense_Mutation_p.Q392*|MCMDC2_ENST00000396592.3_Nonsense_Mutation_p.Q455*|MCMDC2_ENST00000313616.5_Nonsense_Mutation_p.Q455* NM_173518.4 NP_775789.3 Q4G0Z9 CH045_HUMAN minichromosome maintenance domain containing 2 455 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 TTTTCCAGTTCAGTGCAGTTT 0.388000 14 69 0 0 0.119110 0 0 ABCD2 225 broad.mit.edu 37 12 40013386 40013386 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr12:40013386C>G ENST00000308666.3 - 1 167 c.32G>C c.(31-33)cGa>cCa p.R11P NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 11 Interaction with PEX19. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 CCATTTCACTCGATCAGCTGC 0.473000 4 39 0 0 0.150653 0 0 PFKFB1 5207 broad.mit.edu 37 X 54971913 54971913 + Nonsense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chrX:54971913G>A ENST00000375006.3 - 10 1127 c.1057C>T c.(1057-1059)Cga>Tga p.R353* PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.R153*|PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.R288* NM_002625.2 NP_002616.2 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 353 Fructose-2,6-bisphosphatase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1) 24 TCTTGGTCTCGCAGTGCAAAT 0.473000 7 19 0 0 0.038147 0 0 NCOA3 8202 broad.mit.edu 37 20 46256365 46256365 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr20:46256365G>A ENST00000372004.3 + 7 809 c.593G>A c.(592-594)cGt>cAt p.R198H NCOA3_ENST00000371997.3_Missense_Mutation_p.R198H|NCOA3_ENST00000341724.6_Missense_Mutation_p.R198H|NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000371998.3_Missense_Mutation_p.R198H NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 198 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TTTAATTGCCGTATGTTGATG 0.383000 24 60 0 0 0.076483 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65339965 65339965 + Splice_Site SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:65339965G>A ENST00000284037.5 + 17 1818 c.1428_splice c.e17-1 p.E477_splice ERBB2IP_ENST00000508515.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380939.2_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380935.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380936.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380938.2_Splice_Site_p.E477_splice|ERBB2IP_ENST00000380943.2_Splice_Site_p.E477_splice|ERBB2IP_ENST00000511297.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000506030.1_Splice_Site_p.E477_splice|ERBB2IP_ENST00000416865.2_Intron NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 477 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) ATTTCTCTAGGAGGGAAATTT 0.284000 10 37 0 0 0.069234 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140800862 140800862 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:140800862C>T ENST00000398587.2 + 1 101 c.68C>T c.(67-69)aCg>aTg p.T23M PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.T23M|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCTGGGGACGCTGCGGGGG 0.622000 4 25 0 0 0.150653 0 0 SUPT7L 9913 broad.mit.edu 37 2 27880482 27880482 + Silent SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:27880482G>C ENST00000337768.5 - 4 1043 c.474C>G c.(472-474)ctC>ctG p.L158L SUPT7L_ENST00000405491.1_Silent_p.L156L|SUPT7L_ENST00000404798.2_Silent_p.L23L|SUPT7L_ENST00000464789.2_Silent_p.L156L|SUPT7L_ENST00000406540.1_Silent_p.L156L NM_014860.1 NP_055675.1 O94864 ST65G_HUMAN suppressor of Ty 7 (S. cerevisiae)-like 158 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 16 Acute lymphoblastic leukemia(172;0.155) CTGCCTGGTAGAGGAGCTGCC 0.532000 8 30 0 0 0.058154 0 0 PARP8 79668 broad.mit.edu 37 5 50055555 50055555 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:50055555G>A ENST00000281631.5 + 4 421 c.263G>A c.(262-264)aGa>aAa p.R88K PARP8_ENST00000505697.2_Missense_Mutation_p.R88K|PARP8_ENST00000503750.2_Missense_Mutation_p.R88K|PARP8_ENST00000505554.1_Missense_Mutation_p.R67K|PARP8_ENST00000511363.2_Intron|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.R88K NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 88 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) ATTTTTCATAGAATAGCAACA 0.259000 9 48 0 0 0.058154 0 0 TST 7263 broad.mit.edu 37 22 37407206 37407206 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr22:37407206G>A ENST00000403892.3 - 2 1490 c.756C>T c.(754-756)gtC>gtT p.V252V TST_ENST00000249042.3_Silent_p.V252V NM_001270483.1 NP_001257412.1 Q16762 THTR_HUMAN thiosulfate sulfurtransferase (rhodanese) 252 Rhodanese 2. cyanate catabolic process|rRNA transport mitochondrial matrix|plasma membrane 5S rRNA binding|thiosulfate sulfurtransferase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 7 GGCAGGCGGTGACTCCCTTGC 0.642000 5 30 0 0 0.021553 0 0 FAT1 2195 broad.mit.edu 37 4 187541201 187541201 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr4:187541201G>A ENST00000441802.2 - 10 6748 c.6539C>T c.(6538-6540)cCt>cTt p.P2180L NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2180 Cadherin 19. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTCAAACACAGGCATGGCTTT 0.483000 HNSCC(5;0.00058) 9 51 0 0 0.047766 0 0 NCBP2 22916 broad.mit.edu 37 3 196664450 196664450 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:196664450G>C ENST00000447325.1 - 3 469 c.120C>G c.(118-120)atC>atG p.I40M NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000427641.2_Missense_Mutation_p.I57M|NCBP2_ENST00000422610.1_Missense_Mutation_p.I40M|NCBP2_ENST00000452404.2_Missense_Mutation_p.I92M|NCBP2_ENST00000321256.5_Missense_Mutation_p.I110M P52298 NCBP2_HUMAN nuclear cap binding protein subunit 2, 20kDa 110 RRM. gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm nucleotide binding|protein binding|RNA 7-methylguanosine cap binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00551) CTGTGCGAATGATTCGGTCAT 0.532000 25 69 0 0 0.108266 0 0 PHYH 5264 broad.mit.edu 37 10 13323083 13323083 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr10:13323083C>T ENST00000396920.3 - 8 1209 c.805G>A c.(805-807)Gat>Aat p.D269N PHYH_ENST00000396913.2_Missense_Mutation_p.D186N|PHYH_ENST00000263038.4_Missense_Mutation_p.D286N O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase 286 N -> H (in RD). fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) TAGTGGCAATCGGCACTGGCG 0.433000 15 58 0 0 0.146539 0 0 TACR3 6870 broad.mit.edu 37 4 104640753 104640753 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr4:104640753G>A ENST00000304883.2 - 1 220 c.80C>T c.(79-81)tCg>tTg p.S27L NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 27 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GGCAGCTAGCGAGGCGGTCAG 0.682000 10 35 0 0 0.058154 0 0 PTPRM 5797 broad.mit.edu 37 18 7955287 7955287 + Missense_Mutation SNP C C T rs150274533 by1000genomes TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr18:7955287C>T ENST00000332175.8 + 7 2044 c.1007C>T c.(1006-1008)aCg>aTg p.T336M PTPRM_ENST00000400060.4_Missense_Mutation_p.T336M|PTPRM_ENST00000400053.4_Missense_Mutation_p.T274M|PTPRM_ENST00000580170.1_Missense_Mutation_p.T336M|PTPRM_ENST00000444013.1_Missense_Mutation_p.T123M NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 336 Fibronectin type-III 1. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GTCGATTCCACGAGCTATAAA 0.572000 6 30 0 0 0.021553 0 0 TTBK1 84630 broad.mit.edu 37 6 43230734 43230734 + Silent SNP C C A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr6:43230734C>A ENST00000259750.4 + 13 1715 c.1632C>A c.(1630-1632)gtC>gtA p.V544V TTBK1_ENST00000304139.5_Silent_p.V493V NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 544 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) AAGAGTGGGTCATCATCGACA 0.642000 10 10 1.58986e-06 1.65697e-06 0.069234 1 0 FZD8 8325 broad.mit.edu 37 10 35928655 35928655 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr10:35928655G>A ENST00000374694.1 - 1 1707 c.1703C>T c.(1702-1704)cCg>cTg p.P568L NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 568 axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 CCGCAGGCACGGGCAGTTGTG 0.672000 12 35 0 0 0.080935 0 0 SPAG17 200162 broad.mit.edu 37 1 118583431 118583431 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:118583431G>C ENST00000336338.5 - 22 3153 c.3088C>G c.(3088-3090)Caa>Gaa p.Q1030E NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1030 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CCTGAGATTTGAGTGGGTATA 0.363000 8 44 0 0 0.038147 0 0 NCAPH 23397 broad.mit.edu 37 2 97035215 97035215 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:97035215C>G ENST00000455200.1 + 17 2405 c.2110C>G c.(2110-2112)Ctc>Gtc p.L704V NCAPH_ENST00000240423.4_Missense_Mutation_p.L715V|NCAPH_ENST00000427946.1_Missense_Mutation_p.L579V Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 715 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) TTTTGCCTGTCTCCTACATTT 0.428000 34 105 0 0 0.074837 0 0 LSG1 55341 broad.mit.edu 37 3 194362875 194362875 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:194362875C>T ENST00000265245.5 - 14 2213 c.1899G>A c.(1897-1899)gcG>gcA p.A633A AC046143.3_ENST00000447139.1_RNA NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 633 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) AGGGCTTCCCCGCCCCGTTCT 0.498000 21 74 0 0 0.049695 0 0 TENM1 10178 broad.mit.edu 37 X 123554626 123554626 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chrX:123554626G>C ENST00000422452.2 - 25 4580 c.4517C>G c.(4516-4518)tCc>tGc p.S1506C STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.S1499C NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CACTGCTAAGGAGGAAGGGGC 0.463000 22 61 0 0 0.083992 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161024455 161024455 + Missense_Mutation SNP T T C rs146389701 byFrequency TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:161024455T>C ENST00000368013.3 - 4 706 c.386A>G c.(385-387)aAg>aGg p.K129R ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.K129R NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 129 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CTCTAGGATCTTGACCAAGCG 0.527000 15 60 0 0 0.146539 0 0 LCORL 254251 broad.mit.edu 37 4 17847407 17847407 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr4:17847407C>G ENST00000326877.3 - 7 1018 c.894G>C c.(892-894)ttG>ttC p.L298F LCORL_ENST00000539056.1_3'UTR NM_153686.7 NP_710153.2 Q8N3X6 LCORL_HUMAN ligand dependent nuclear receptor corepressor-like 587 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 ATGCTGTTGTCAAATTCAGAT 0.383000 30 71 0 0 0.134883 0 0 LRPPRC 10128 broad.mit.edu 37 2 44128664 44128664 + Splice_Site SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:44128664C>G ENST00000260665.7 - 32 3422 c.e32-1 NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GTCACAGCCTCTAAAATACAA 0.433000 8 31 0 0 0.058154 0 0 WWC1 23286 broad.mit.edu 37 5 167812240 167812240 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:167812240G>A ENST00000265293.4 + 3 756 c.254G>A c.(253-255)cGa>cAa p.R85Q WWC1_ENST00000521089.1_Missense_Mutation_p.R85Q NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 85 WW 2. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GAGGATCCTCGAGTACAATGG 0.527000 5 23 0 0 0.047766 0 0 GOLM1 51280 broad.mit.edu 37 9 88650317 88650317 + Silent SNP G G A rs147755244 TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr9:88650317G>A ENST00000388712.3 - 8 1149 c.981C>T c.(979-981)gaC>gaT p.D327D GOLM1_ENST00000388711.3_Silent_p.D327D NM_016548.3 NP_057632.2 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 327 Golgi apparatus|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 CCTCCTGTCCGTCGGGGATGA 0.637000 OREG0019278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 66 0 0 0.043863 0 0 NOS1AP 9722 broad.mit.edu 37 1 162326887 162326887 + Silent SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:162326887C>G ENST00000361897.5 + 8 1302 c.900C>G c.(898-900)ctC>ctG p.L300L NOS1AP_ENST00000530878.1_Silent_p.L295L NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 300 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) agcagctcctccagcagcAGC 0.617000 13 45 0 0 0.055883 0 0 GPR113 165082 broad.mit.edu 37 2 26533788 26533788 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:26533788G>A ENST00000333478.6 - 8 2793 c.2211C>T c.(2209-2211)atC>atT p.I737I GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.I867I|GPR113_ENST00000541401.1_Silent_p.I539I|GPR113_ENST00000311519.1_Silent_p.I936I NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 936 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCACGCCTATGATGGCCAGCA 0.597000 9 12 0 0 0.058154 0 0 MBD6 114785 broad.mit.edu 37 12 57919424 57919424 + Missense_Mutation SNP C C A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr12:57919424C>A ENST00000355673.3 + 6 1029 c.673C>A c.(673-675)Ccc>Acc p.P225T MBD6_ENST00000431731.2_Missense_Mutation_p.P225T NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 225 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CCTCAATGCTCCCTCATACAA 0.652000 40 163 2.66277e-13 2.84916e-13 0.092188 1 0 AJUBA 84962 broad.mit.edu 37 14 23451383 23451383 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr14:23451383G>A ENST00000262713.2 - 1 468 c.93C>T c.(91-93)ccC>ccT p.P31P RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Silent_p.P31P NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 31 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding TGCCCGGCCCGGGGGTCCCGT 0.677000 7 24 0 0 0.047766 0 0 AGPAT4 56895 broad.mit.edu 37 6 161575246 161575246 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr6:161575246C>G ENST00000320285.4 - 4 657 c.445G>C c.(445-447)Gag>Cag p.E149Q AGPAT4_ENST00000366911.5_Missense_Mutation_p.G92A|AGPAT4_ENST00000366906.5_Missense_Mutation_p.E87Q|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000457520.2_Intron NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 149 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) CGATCCTGCTCCCACTTGCGC 0.562000 11 62 0 0 0.080935 0 0 MYO15A 51168 broad.mit.edu 37 17 18045516 18045516 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr17:18045516C>T ENST00000205890.5 + 24 6111 c.5773C>T c.(5773-5775)Ctg>Ttg p.L1925L NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1925 IQ 2.|Neck or regulatory domain. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) ATTCCGCTCTCTGCGCCACAA 0.592000 8 24 0 0 0.069234 0 0 KRT2 3849 broad.mit.edu 37 12 53040579 53040579 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr12:53040579C>G ENST00000309680.3 - 7 1435 c.1414G>C c.(1414-1416)Gcc>Ccc p.A472P NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 472 Coil 2.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) ACATCTAGGGCCAGCTTCACG 0.622000 21 68 0 0 0.091800 0 0 FAT1 2195 broad.mit.edu 37 4 187541129 187541129 + Missense_Mutation SNP A A C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr4:187541129A>C ENST00000441802.2 - 10 6820 c.6611T>G c.(6610-6612)gTg>gGg p.V2204G NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2204 Cadherin 20. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTTAGCCTGCACGTGGACCAC 0.483000 HNSCC(5;0.00058) 29 102 0 0 0.134883 0 0 EDC4 23644 broad.mit.edu 37 16 67912724 67912724 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr16:67912724C>T ENST00000358933.5 + 11 1508 c.1269C>T c.(1267-1269)ctC>ctT p.L423L EDC4_ENST00000574770.1_3'UTR NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 423 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) ACCTGATTCTCAGCGATGTGC 0.567000 38 106 0 0 0.111260 0 0 NKD1 85407 broad.mit.edu 37 16 50667367 50667367 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr16:50667367G>C ENST00000268459.3 + 10 1312 c.1088G>C c.(1087-1089)aGa>aCa p.R363T NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 363 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) CACGTGGCCAGAGGGGCAAGA 0.711000 8 30 0 0 0.058154 0 0 GSN 2934 broad.mit.edu 37 9 124091231 124091231 + Missense_Mutation SNP A A G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr9:124091231A>G ENST00000373823.3 + 22 2730 c.1825A>G c.(1825-1827)Aag>Gag p.K609E GSN_ENST00000545652.1_Missense_Mutation_p.K617E|GSN_ENST00000341272.2_Missense_Mutation_p.K609E|GSN_ENST00000412819.1_Missense_Mutation_p.K609E|GSN_ENST00000436847.1_Missense_Mutation_p.K620E|GSN_ENST00000449733.1_Missense_Mutation_p.K609E|GSN_ENST00000373807.1_Missense_Mutation_p.K391E|GSN_ENST00000394353.2_Missense_Mutation_p.K620E|GSN_ENST00000373806.1_Missense_Mutation_p.K85E|GSN_ENST00000373808.2_Missense_Mutation_p.K609E|GSN_ENST00000373818.4_Missense_Mutation_p.K660E P06396 GELS_HUMAN gelsolin 660 Actin-binding, Ca-sensitive (Potential). actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 GCTGAAGGACAAGAAGATGGA 0.622000 6 25 0 0 0.021553 0 0 SMG5 23381 broad.mit.edu 37 1 156233278 156233278 + Nonsense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:156233278G>A ENST00000361813.5 - 13 2083 c.1939C>T c.(1939-1941)Cag>Tag p.Q647* SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 647 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) ATCAGGACCTGAAGCTTCTCC 0.602000 11 97 0 0 0.069234 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18633881 18633881 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:18633881G>A ENST00000336349.5 - 4 2101 c.1866C>T c.(1864-1866)atC>atT p.I622I NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 622 breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 CATAACCAAAGATTTCTCTAA 0.323000 16 64 0 0 0.175082 0 0 ADRBK2 157 broad.mit.edu 37 22 26118286 26118286 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr22:26118286G>A ENST00000324198.5 + 21 2128 c.1936G>A c.(1936-1938)Gag>Aag p.E646K NM_005160.3 NP_005151.2 P35626 ARBK2_HUMAN adrenergic, beta, receptor kinase 2 646 PH. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2) 32 Adenosine triphosphate(DB00171) GTGGAAGAAAGAGTTGAACGA 0.552000 23 84 0 0 0.083992 0 0 ITPR3 3710 broad.mit.edu 37 6 33636878 33636878 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr6:33636878G>A ENST00000374316.5 + 19 3194 c.2134G>A c.(2134-2136)Gcc>Acc p.A712T ITPR3_ENST00000605930.1_Missense_Mutation_p.A712T Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 712 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GAGGCAGCTGGCCCAGGAGGC 0.602000 7 82 0 0 0.058154 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033148 52033148 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:52033148G>A ENST00000346477.3 - 4 862 c.794C>T c.(793-795)cCt>cTt p.P265L SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P281L|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P281L|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P270L|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P292L|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P229L NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 281 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CAGGTGTGCAGGGGGGTTGCC 0.617000 18 70 0 0 0.043863 0 0 KDM4B 23030 broad.mit.edu 37 19 5131326 5131326 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:5131326G>A ENST00000159111.4 + 12 1773 c.1555G>A c.(1555-1557)Gag>Aag p.E519K KDM4B_ENST00000536461.1_Missense_Mutation_p.E553K NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 519 Pro-rich. 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 TGAGGAGCTAGAGGCCAAGCC 0.687000 8 26 0 0 0.047766 0 0 SLC4A10 57282 broad.mit.edu 37 2 162820729 162820729 + Missense_Mutation SNP G G T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:162820729G>T ENST00000375514.5 + 22 3177 c.2890G>T c.(2890-2892)Gtg>Ttg p.V964L SLC4A10_ENST00000421911.1_Missense_Mutation_p.V983L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.V953L|SLC4A10_ENST00000446997.1_Missense_Mutation_p.V983L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.V953L NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 983 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GCTTCGAAAAGTGCATCTCTT 0.378000 8 25 1.06961e-07 1.12205e-07 0.038147 1 0 AHNAK 79026 broad.mit.edu 37 11 62289230 62289230 + Nonsense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:62289230G>C ENST00000378024.4 - 5 12933 c.12659C>G c.(12658-12660)tCa>tGa p.S4220* AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4220 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CTTGGGTCCTGAGACGTCAAG 0.483000 72 245 0 0 0.139131 0 0 KRT37 8688 broad.mit.edu 37 17 39580458 39580458 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr17:39580458C>T ENST00000225550.3 - 1 317 c.318G>A c.(316-318)gaG>gaA p.E106E AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 106 Coil 1A.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) ACTTCATGGTCTCCTTCTCAT 0.572000 13 54 0 0 0.105934 0 0 MUC16 94025 broad.mit.edu 37 19 9066948 9066948 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:9066948G>A ENST00000397910.4 - 3 20701 c.20498C>T c.(20497-20499)tCa>tTa p.S6833L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6835 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 GGTGAGCAGTGAGGTCATAGG 0.502000 10 62 0 0 0.080935 0 0 COX19 90639 broad.mit.edu 37 7 1012890 1012890 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:1012890G>A ENST00000344111.3 - 2 210 c.121C>T c.(121-123)Ctt>Ttt p.L41F NM_001031617.2 NP_001026788.1 Q49B96 COX19_HUMAN cytochrome c oxidase assembly homolog 19 (S. cerevisiae) 41 CHCH. cytosol endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15) TTGTTATGAAGACACTTCATG 0.343000 9 56 0 0 0.047766 0 0 HTR1E 3354 broad.mit.edu 37 6 87725456 87725456 + Missense_Mutation SNP C C T rs143974435 TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr6:87725456C>T ENST00000305344.4 + 2 1107 c.404C>T c.(403-405)aCg>aTg p.T135M HTR1E_ENST00000369584.1_Missense_Mutation_p.T135M NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 135 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) AGGAAGAGGACGGCCAAGAGG 0.577000 19 44 0 0 0.055883 0 0 PDYN 5173 broad.mit.edu 37 20 1961196 1961196 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr20:1961196G>A ENST00000217305.2 - 4 763 c.538C>T c.(538-540)Cgc>Tgc p.R180C PDYN_ENST00000540134.1_Missense_Mutation_p.R180C|PDYN_ENST00000539905.1_Missense_Mutation_p.R180C|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 180 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity p.R180C(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGGTATTTGCGCAAAAAGCCC 0.602000 26 66 0 0 0.083992 0 0 ARAP2 116984 broad.mit.edu 37 4 36230305 36230305 + Silent SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr4:36230305C>G ENST00000303965.4 - 2 1293 c.804G>C c.(802-804)gtG>gtC p.V268V NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 268 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 TACGACTTCTCACAGGTGCTA 0.418000 24 91 0 0 0.083992 0 0 IRF9 10379 broad.mit.edu 37 14 24633337 24633337 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr14:24633337G>C ENST00000396864.3 + 6 930 c.643G>C c.(643-645)Gag>Cag p.E215Q IRF9_ENST00000557894.1_Missense_Mutation_p.E113Q|RP11-468E2.4_ENST00000558468.1_3'UTR NM_006084.4 NP_006075.3 Q00978 IRF9_HUMAN interferon regulatory factor 9 215 interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) GCTTCCTCCAGAGCCAGGTAC 0.522000 36 113 0 0 0.173368 0 0 SARM1 23098 broad.mit.edu 37 17 26715421 26715421 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr17:26715421G>A ENST00000457710.3 + 7 2155 c.1684G>A c.(1684-1686)Gag>Aag p.E562K SARM1_ENST00000379061.4_3'UTR NM_015077.2 NP_055892.2 Q6SZW1 SARM1_HUMAN sterile alpha and TIR motif containing 1 596 TIR. innate immune response cytoplasm|intrinsic to membrane binding|transmembrane receptor activity cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) CATTGATGTGGAGAAGCTGGA 0.552000 14 70 0 0 0.119110 0 0 ABCA13 154664 broad.mit.edu 37 7 48284261 48284261 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:48284261C>G ENST00000435803.1 + 11 1375 c.1351C>G c.(1351-1353)Ctc>Gtc p.L451V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 451 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGATGGAGCTCTCAGAAATGC 0.428000 11 53 0 0 0.105934 0 0 FBXO41 150726 broad.mit.edu 37 2 73492491 73492491 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:73492491C>T ENST00000521871.1 - 5 1898 c.1483G>A c.(1483-1485)Gag>Aag p.E495K FBXO41_ENST00000295133.5_Missense_Mutation_p.E556K|FBXO41_ENST00000520530.2_Missense_Mutation_p.E495K Q8TF61 FBX41_HUMAN F-box protein 41 495 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 GCCTCTGACTCAGTGGTTCGG 0.687000 13 40 0 0 0.119110 0 0 PRDM10 56980 broad.mit.edu 37 11 129772280 129772280 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:129772280C>T ENST00000358825.5 - 22 3642 c.3411G>A c.(3409-3411)caG>caA p.Q1137Q PRDM10_ENST00000360871.3_Silent_p.Q1133Q|PRDM10_ENST00000528746.1_Silent_p.Q1094Q|PRDM10_ENST00000526082.1_Silent_p.Q1051Q|PRDM10_ENST00000423662.2_Silent_p.Q1038Q|PRDM10_ENST00000304538.6_Silent_p.Q1000Q NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 1124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) ACTGTGTGGTCTGCTGTTGGC 0.547000 37 100 0 0 0.069456 0 0 EFCAB6 64800 broad.mit.edu 37 22 43924776 43924776 + Nonsense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr22:43924776G>C ENST00000262726.7 - 32 4716 c.4463C>G c.(4462-4464)tCa>tGa p.S1488* EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.S1336*|EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000461800.1_5'UTR NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1488 EF-hand 17.|Interaction with AR.|Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GGAGATTTTTGAAGACAGCGT 0.512000 8 91 0 0 0.058154 0 0 AKAP6 9472 broad.mit.edu 37 14 33291002 33291002 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr14:33291002C>T ENST00000280979.4 + 13 4153 c.3983C>T c.(3982-3984)tCt>tTt p.S1328F AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1328 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AGTAAAGACTCTTCATTTTCA 0.428000 3 58 0 0 0.115264 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73414358 73414358 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr4:73414358G>C ENST00000286657.4 - 3 377 c.341C>G c.(340-342)tCt>tGt p.S114C ADAMTS3_ENST00000505193.1_5'UTR NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 114 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGGCACCAGAGATGTCTCATG 0.463000 29 102 0 0 0.125774 0 0 GPR98 84059 broad.mit.edu 37 5 90103466 90103466 + Missense_Mutation SNP T T C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:90103466T>C ENST00000405460.2 + 73 14980 c.14884T>C c.(14884-14886)Tgg>Cgg p.W4962R GPR98_ENST00000425867.2_Missense_Mutation_p.W623R NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4962 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) AGTTTTCCTGTGGACGTTTCC 0.468000 10 28 0 0 0.069234 0 0 EMX2 2018 broad.mit.edu 37 10 119303110 119303110 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr10:119303110C>T ENST00000553456.3 + 1 1156 c.332C>T c.(331-333)tCg>tTg p.S111L EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.S111L NM_004098.3 NP_004089.1 Q04743 EMX2_HUMAN empty spiracles homeobox 2 111 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2) 12 Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22) all cancers(201;0.0133) CTATTCGCCTCGCAGCAGCGG 0.697000 17 46 0 0 0.043863 0 0 FERMT3 83706 broad.mit.edu 37 11 63990638 63990638 + Missense_Mutation SNP A A T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:63990638A>T ENST00000279227.5 + 14 1896 c.1801A>T c.(1801-1803)Aat>Tat p.N601Y FERMT3_ENST00000345728.5_Missense_Mutation_p.N597Y NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 601 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 GCGCCAGTGGAATGTCAACTG 0.637000 24 70 0 0 0.091800 0 0 OXSR1 9943 broad.mit.edu 37 3 38266161 38266161 + Missense_Mutation SNP A A C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:38266161A>C ENST00000311806.3 + 8 1174 c.802A>C c.(802-804)Att>Ctt p.I268L OXSR1_ENST00000446845.1_Missense_Mutation_p.I268L NM_005109.2 NP_005100.1 O95747 OXSR1_HUMAN oxidative stress responsive 1 268 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TAGAAAAATGATTTCATTGTG 0.313000 13 24 0 0 0.105934 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27907958 27907958 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:27907958G>A ENST00000326019.6 + 10 2212 c.1930G>A c.(1930-1932)Gag>Aag p.E644K NM_018158.2 NP_060628.2 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), member 1, adaptor protein 644 Glu-rich. cytoplasm|nucleus double-stranded RNA binding|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.155) AATGAAAGATGAGCCTGAAGT 0.443000 21 42 0 0 0.049695 0 0 UNC13D 201294 broad.mit.edu 37 17 73831829 73831829 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr17:73831829C>T ENST00000207549.4 - 19 2005 c.1626G>A c.(1624-1626)acG>acA p.T542T UNC13D_ENST00000412096.2_Silent_p.T542T NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 542 Interaction with RAB27A. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) CACCCACAACCGTCGTGTGGT 0.622000 Familial Hemophagocytic Lymphohistiocytosis 30 69 0 0 0.125774 0 0 FAM74A3 728495 broad.mit.edu 37 9 40716111 40716111 + RNA SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr9:40716111C>T ENST00000604146.1 + 0 450 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CAGACGCTGTCTGCAAGAAGA 0.537000 9 50 0 0 0.047766 0 0 GPR50 9248 broad.mit.edu 37 X 150349840 150349840 + Silent SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chrX:150349840C>G ENST00000218316.3 + 2 1854 c.1785C>G c.(1783-1785)acC>acG p.T595T NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 595 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) TAGTCACTACCAGTACCAATG 0.537000 23 157 0 0 0.083992 0 0 CTCF 10664 broad.mit.edu 37 16 67662427 67662427 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr16:67662427C>G ENST00000264010.4 + 9 2117 c.1673C>G c.(1672-1674)tCt>tGt p.S558C CTCF_ENST00000401394.1_Missense_Mutation_p.S230C NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 558 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) TTTGTCTGTTCTAAGTGTGGG 0.483000 37 76 0 0 0.086207 0 0 EP300 2033 broad.mit.edu 37 22 41547912 41547912 + Nonsense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr22:41547912C>T ENST00000263253.7 + 15 4112 c.2893C>T c.(2893-2895)Cag>Tag p.Q965* NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 965 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 AGTGAATTCTCAGGCCATTGC 0.478000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 11 84 0 0 0.093190 0 0 ADRM1 11047 broad.mit.edu 37 20 60883183 60883183 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr20:60883183G>A ENST00000253003.2 + 8 1009 c.963G>A c.(961-963)ccG>ccA p.P321P LAMA5_ENST00000492698.1_5'UTR NM_007002.2|NM_175573.1 NP_008933.2|NP_783163.1 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 321 proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1) 5 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) AGTCGCTGCCGCAGACCGCGG 0.647000 6 17 0 0 0.021553 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801352 185801352 + Missense_Mutation SNP C C A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:185801352C>A ENST00000302277.6 + 4 1823 c.1229C>A c.(1228-1230)aCt>aAt p.T410N NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 410 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GTTAACATAACTATACATAAG 0.383000 23 68 4.54149e-19 4.92506e-19 0.069288 1 0 OR4C11 219429 broad.mit.edu 37 11 55371308 55371308 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:55371308G>A ENST00000302231.4 - 1 566 c.542C>T c.(541-543)cCc>cTc p.P181L NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 TTTCAACAAGGGCTGCAAATC 0.403000 16 14 0 0 0.132662 0 0 ZMYM2 7750 broad.mit.edu 37 13 20601408 20601408 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr13:20601408G>C ENST00000382869.3 + 9 2052 c.1801G>C c.(1801-1803)Gat>Cat p.D601H ZMYM2_ENST00000382883.3_Missense_Mutation_p.D83H|ZMYM2_ENST00000382870.2_5'UTR|ZMYM2_ENST00000382874.2_Missense_Mutation_p.D601H|ZMYM2_ENST00000382871.2_Missense_Mutation_p.D601H NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 601 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) CACAATGCCTGATGGAAAACT 0.358000 3 3 0 0 0.150653 0 0 NCAPH 23397 broad.mit.edu 37 2 97035190 97035190 + Silent SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:97035190C>G ENST00000455200.1 + 17 2380 c.2085C>G c.(2083-2085)ctC>ctG p.L695L NCAPH_ENST00000240423.4_Silent_p.L706L|NCAPH_ENST00000427946.1_Silent_p.L570L Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 706 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) CTCAGAACCTCTCCATACCTC 0.433000 33 100 0 0 0.080422 0 0 ALG11 440138 broad.mit.edu 37 13 52586581 52586581 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr13:52586581C>T ENST00000521508.1 + 1 32 c.27C>T c.(25-27)tgC>tgT p.C9C ALG11_ENST00000523764.1_Silent_p.C9C NM_001004127.2 NP_001004127.2 ALG11, alpha-1,2-mannosyltransferase endometrium(1)|large_intestine(6)|lung(4)|ovary(2) 13 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.44e-08) GGAGCTGGTGCCTGTGCAAGT 0.567000 8 27 0 0 0.047766 0 0 PYGM 5837 broad.mit.edu 37 11 64521495 64521495 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:64521495C>T ENST00000164139.3 - 10 1493 c.1095G>A c.(1093-1095)gcG>gcA p.A365A PYGM_ENST00000377432.3_Silent_p.A277A NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 365 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding p.A365A(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) TCACATCCCACGCCTGGCACA 0.672000 4 11 0 0 0.150653 0 0 USP47 55031 broad.mit.edu 37 11 11964241 11964241 + Silent SNP T T C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:11964241T>C ENST00000339865.5 + 19 3232 c.2469T>C c.(2467-2469)ccT>ccC p.P823P USP47_ENST00000527733.1_Silent_p.P891P|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Silent_p.P911P NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 911 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) TCGAATCACCTCTCAATGAGA 0.413000 4 57 0 0 0.150653 0 0 MTOR 2475 broad.mit.edu 37 1 11187151 11187151 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:11187151C>T ENST00000361445.4 - 45 6343 c.6267G>A c.(6265-6267)atG>atA p.M2089I MTOR_ENST00000376838.1_Missense_Mutation_p.M294I NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2089 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TCCCTGATTTCATGTACTTCC 0.488000 8 38 0 0 0.038147 0 0 MYOM1 8736 broad.mit.edu 37 18 3129359 3129359 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr18:3129359G>C ENST00000400569.3 - 18 2998 c.2665C>G c.(2665-2667)Caa>Gaa p.Q889E MYOM1_ENST00000356443.4_Missense_Mutation_p.Q889E|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000261606.7_Intron P52179 MYOM1_HUMAN myomesin 1 889 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CCCAGGTTTTGAGAGCTACTG 0.532000 OREG0024838 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 114 0 0 0.125774 0 0 FLG 2312 broad.mit.edu 37 1 152277136 152277136 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:152277136C>T ENST00000368799.1 - 3 10261 c.10226G>A c.(10225-10227)cGa>cAa p.R3409Q FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3409 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTTGTCTTCGTCCAGTGCT 0.602000 Ichthyosis 53 169 0 0 0.139131 0 0 CCDC51 79714 broad.mit.edu 37 3 48475178 48475178 + Missense_Mutation SNP C C A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:48475178C>A ENST00000395694.2 - 3 501 c.416G>T c.(415-417)cGt>cTt p.R139L CCDC51_ENST00000447018.1_Missense_Mutation_p.R30L|CCDC51_ENST00000442740.1_Missense_Mutation_p.R30L|CCDC51_ENST00000395696.1_Missense_Mutation_p.R139L|CCDC51_ENST00000412398.2_Missense_Mutation_p.R30L NM_001256964.1 NP_001243893.1 Q96ER9 CCD51_HUMAN coiled-coil domain containing 51 139 integral to membrane endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CCTGGAGACACGGTCCAAGCG 0.597000 35 88 3.90053e-15 4.21572e-15 0.163468 1 0 CPB1 1360 broad.mit.edu 37 3 148563304 148563304 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:148563304G>A ENST00000491148.1 + 10 1206 c.872G>A c.(871-873)cGc>cAc p.R291H CPB1_ENST00000282957.4_Missense_Mutation_p.R291H P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 291 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) GATTTCATCCGCAACAAACTC 0.463000 27 70 0 0 0.116897 0 0 KLHL41 10324 broad.mit.edu 37 2 170377507 170377507 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:170377507G>C ENST00000284669.1 + 5 1776 c.1699G>C c.(1699-1701)Gac>Cac p.D567H KLHL41_ENST00000463400.1_3'UTR|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.D505H|BBS5_ENST00000554017.1_Missense_Mutation_p.D505H NM_006063.2 NP_006054.2 kelch-like family member 41 TGAAGTCAATGACATATGGAA 0.368000 8 62 0 0 0.047766 0 0 CTNNA1 1495 broad.mit.edu 37 5 138266343 138266343 + Splice_Site SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:138266343G>A ENST00000302763.7 + 15 2282 c.2192_splice c.e15+1 p.R731_splice CTNNA1_ENST00000518825.1_Splice_Site_p.R731_splice|CTNNA1_ENST00000540387.1_Splice_Site_p.R361_splice|CTNNA1_ENST00000355078.5_Splice_Site_p.R628_splice NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 731 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GACTTTACCCGGTGAGCAGCA 0.577000 19 78 0 0 0.062417 0 0 CACNA1D 776 broad.mit.edu 37 3 53839030 53839030 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:53839030G>A ENST00000288139.3 + 46 5784 c.5666G>A c.(5665-5667)aGc>aAc p.S1889N CACNA1D_ENST00000422281.2_Missense_Mutation_p.S1845N|CACNA1D_ENST00000544977.1_Missense_Mutation_p.S248N|CACNA1D_ENST00000350061.5_Missense_Mutation_p.S1869N NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1869 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GGCTACTACAGCAGATACCCA 0.522000 14 42 0 0 0.146539 0 0 TTN 7273 broad.mit.edu 37 2 179638442 179638442 + Silent SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:179638442C>G ENST00000589042.1 - 32 7565 c.7341G>C c.(7339-7341)gtG>gtC p.V2447V TTN_ENST00000342992.6_Silent_p.V2447V|TTN_ENST00000342175.6_Silent_p.V2401V|TTN_ENST00000460472.2_Silent_p.V2401V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.V2447V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Silent_p.V2447V|TTN_ENST00000359218.5_Silent_p.V2401V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2173 Ig-like 14. 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) GAGGTGTTATCACGTCCACAC 0.373000 8 53 0 0 0.038147 0 0 PTPRU 10076 broad.mit.edu 37 1 29602008 29602008 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:29602008G>A ENST00000356870.3 + 8 1303 c.1193G>A c.(1192-1194)cGt>cAt p.R398H PTPRU_ENST00000345512.3_Missense_Mutation_p.R398H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R398H|PTPRU_ENST00000323874.8_Missense_Mutation_p.R398H|PTPRU_ENST00000428026.2_Missense_Mutation_p.R398H|PTPRU_ENST00000373779.3_Missense_Mutation_p.R398H NM_133177.3 NP_573438.3 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 398 Fibronectin type-III 2. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) ATCCAGGCCCGTCAGCTGACC 0.567000 21 18 0 0 0.055883 0 0 COL14A1 7373 broad.mit.edu 37 8 121381598 121381598 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr8:121381598C>T ENST00000297848.3 + 47 5455 c.5185C>T c.(5185-5187)Cct>Tct p.P1729S COL14A1_ENST00000247781.3_Missense_Mutation_p.P1634S|COL14A1_ENST00000309791.4_Missense_Mutation_p.P1729S NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1729 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GCCTGGCAGCCCTGGGCCCCC 0.582000 18 56 0 0 0.175082 0 0 LCT 3938 broad.mit.edu 37 2 136590728 136590728 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:136590728C>G ENST00000264162.2 - 2 683 c.673G>C c.(673-675)Gat>Cat p.D225H NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 225 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TCCGGGATATCTTCAGCTCGC 0.517000 33 115 0 0 0.069456 0 0 TGM6 343641 broad.mit.edu 37 20 2375141 2375141 + Silent SNP C C T rs147506152 by1000genomes TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr20:2375141C>T ENST00000202625.2 + 2 112 c.51C>T c.(49-51)ggC>ggT p.G17G TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G17G NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 17 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.G17G(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) CGAGGAATGGCGCTGCCCACC 0.647000 3 28 0 0 0.150653 0 0 NBAS 51594 broad.mit.edu 37 2 15519752 15519752 + Silent SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:15519752G>C ENST00000281513.5 - 30 3589 c.3564C>G c.(3562-3564)ctC>ctG p.L1188L NBAS_ENST00000441750.1_Silent_p.L1068L NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1188 p.L1188L(1) NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 AGCTATCAGTGAGGTTGGTAG 0.428000 18 49 0 0 0.175082 0 0 SGOL2 151246 broad.mit.edu 37 2 201436564 201436564 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:201436564G>A ENST00000357799.4 + 7 1593 c.1495G>A c.(1495-1497)Gag>Aag p.E499K NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 499 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AATAACAAATGAGCAAGAGGA 0.338000 23 129 0 0 0.062417 0 0 PSMA3 5684 broad.mit.edu 37 14 58711603 58711603 + Translation_Start_Site SNP C C A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr14:58711603C>A ENST00000216455.4 + 0 55 PSMA3_ENST00000554456.1_3'UTR|PSMA3_ENST00000412908.2_De_novo_Start_OutOfFrame NM_002788.3|NM_152132.2 NP_002779.1|NP_687033.1 P25788 PSA3_HUMAN proteasome (prosome, macropain) subunit, alpha type, 3 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 GCGCTCCGGGCCTGGAATCCC 0.527000 14 40 9.31168e-06 9.6733e-06 0.105934 1 0 DNAH3 55567 broad.mit.edu 37 16 21011751 21011751 + Silent SNP G G A rs138378920 TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr16:21011751G>A ENST00000261383.3 - 43 6215 c.6216C>T c.(6214-6216)ttC>ttT p.F2072F DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2072 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.F2072F(2) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGGGACCCACGAACAGCATTG 0.493000 14 32 0 0 0.105934 0 0 ARMC8 25852 broad.mit.edu 37 3 137942337 137942337 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:137942337C>G ENST00000469044.1 + 4 572 c.301C>G c.(301-303)Cta>Gta p.L101V ARMC8_ENST00000393058.3_Missense_Mutation_p.L91V|ARMC8_ENST00000481646.1_Missense_Mutation_p.L87V|ARMC8_ENST00000489213.1_Missense_Mutation_p.L59V|ARMC8_ENST00000471453.1_Missense_Mutation_p.L87V|ARMC8_ENST00000461822.1_Missense_Mutation_p.L101V|ARMC8_ENST00000358441.2_Missense_Mutation_p.L87V|ARMC8_ENST00000491704.1_Missense_Mutation_p.L59V|ARMC8_ENST00000485396.1_Missense_Mutation_p.L59V|ARMC8_ENST00000538260.1_Missense_Mutation_p.L101V|ARMC8_ENST00000470821.1_Missense_Mutation_p.L101V NM_001267041.1|NM_001267042.1 NP_001253970.1|NP_001253971.1 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 101 binding endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1) 16 TGTCAAGTCTCTACTGGACTG 0.413000 20 78 0 0 0.055883 0 0 NRCAM 4897 broad.mit.edu 37 7 107875082 107875082 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:107875082C>T ENST00000379028.3 - 6 645 c.175G>A c.(175-177)Gac>Aac p.D59N NRCAM_ENST00000425651.2_Missense_Mutation_p.D59N|NRCAM_ENST00000413765.2_Missense_Mutation_p.D59N|NRCAM_ENST00000379024.4_Missense_Mutation_p.D59N|NRCAM_ENST00000351718.4_Missense_Mutation_p.D53N|NRCAM_ENST00000379022.4_Missense_Mutation_p.D59N Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 59 Ig-like 1. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TCCCGAGGGTCAATAATGTAA 0.368000 20 55 0 0 0.062417 0 0 INF2 64423 broad.mit.edu 37 14 105174903 105174903 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr14:105174903G>A ENST00000392634.4 + 9 1978 c.1866G>A c.(1864-1866)cgG>cgA p.R622R INF2_ENST00000330634.7_Silent_p.R622R NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 622 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) TGGCCCCCCGGGCCAGGAAGG 0.697000 OREG0022959 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 28 0 0 0.093190 0 0 PRRC2B 84726 broad.mit.edu 37 9 134351594 134351594 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr9:134351594G>C ENST00000357304.4 + 15 4133 c.4078G>C c.(4078-4080)Gag>Cag p.E1360Q PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1360 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CAGGTCCCCTGAGCTCTCCTA 0.672000 OREG0019561 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 19 0 0 0.029380 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64619398 64619398 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:64619398G>A ENST00000498707.1 - 13 2356 c.2014C>T c.(2014-2016)Cgc>Tgc p.R672C ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R644C NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 672 Cys-rich. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GGGACCCAGCGCACATTGGGA 0.512000 43 225 0 0 0.111260 0 0 NCOA6 23054 broad.mit.edu 37 20 33329679 33329679 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr20:33329679C>T ENST00000374796.2 - 12 6951 c.4381G>A c.(4381-4383)Gat>Aat p.D1461N NCOA6_ENST00000359003.2_Missense_Mutation_p.D1461N Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1461 brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 GGCTGCCCATCCTTTTTGGAC 0.448000 19 67 0 0 0.049695 0 0 ADPGK 83440 broad.mit.edu 37 15 73048650 73048650 + Missense_Mutation SNP G G C rs142833607 by1000genomes TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr15:73048650G>C ENST00000311669.8 - 5 875 c.782C>G c.(781-783)tCt>tGt p.S261C ADPGK_ENST00000567733.1_Intron NM_031284.4 NP_112574.3 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 261 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1) 7 GTGCAATCCAGAGAGGACCAC 0.517000 14 67 0 0 0.132662 0 0 CTCF 10664 broad.mit.edu 37 16 67662366 67662366 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr16:67662366C>G ENST00000264010.4 + 9 2056 c.1612C>G c.(1612-1614)Ctc>Gtc p.L538V CTCF_ENST00000401394.1_Missense_Mutation_p.L210V NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 538 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) GAAGCAGCTTCTCGACATGCA 0.547000 34 62 0 0 0.069456 0 0 PSG6 5675 broad.mit.edu 37 19 43421931 43421931 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:43421931G>A ENST00000187910.2 - 1 79 c.14C>T c.(13-15)tCa>tTa p.S5L PSG6_ENST00000292125.2_Missense_Mutation_p.S5L|PSG6_ENST00000601833.1_Intron|PSG6_ENST00000402603.4_Missense_Mutation_p.S5L NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) GGGAGGGGCTGAGAGGGGTCC 0.597000 31 101 0 0 0.074837 0 0 MCAM 4162 broad.mit.edu 37 11 119181849 119181849 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:119181849G>A ENST00000392814.1 - 8 2172 c.1443C>T c.(1441-1443)ctC>ctT p.L481L MCAM_ENST00000264036.4_Silent_p.L532L P43121 MUC18_HUMAN melanoma cell adhesion molecule 532 Ig-like C2-type 3. anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) TGGAAGTGCTGAGGCCAGTGG 0.577000 26 145 0 0 0.091800 0 0 T 6862 broad.mit.edu 37 6 166580264 166580264 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr6:166580264G>A ENST00000296946.2 - 3 755 c.287C>T c.(286-288)gCg>gTg p.A96V T_ENST00000366871.3_Missense_Mutation_p.A96V NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 96 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) GTTGTCCGCCGCCACGAAGTC 0.657000 Chordoma, Familial Clustering of 5 51 0 0 0.029380 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812666 31812666 + Silent SNP T T A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr21:31812666T>A ENST00000334067.3 + 1 70 c.21T>A c.(19-21)tcT>tcA p.S7S NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 7 intermediate filament kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 ACTGCAGCTCTGGAAACTTCT 0.438000 14 62 0 0 0.146539 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13915816 13915816 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:13915816C>T ENST00000254323.2 + 3 755 c.566C>T c.(565-567)tCc>tTc p.S189F NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 189 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CTGCCCATCTCCGAGACGCTC 0.637000 OREG0025298 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 39 0 0 0.014758 0 0 MIR519C 574466 broad.mit.edu 37 19 54189750 54189750 + RNA SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:54189750G>A ENST00000385053.1 + 0 28 NR_030188.1 CTAGAGGGAAGCGCTTTCTGT 0.388000 39 126 0 0 0.104719 0 0 ZMYND11 10771 broad.mit.edu 37 10 267290 267290 + Silent SNP T T C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr10:267290T>C ENST00000309776.4 + 4 860 c.312T>C c.(310-312)gtT>gtC p.V104V ZMYND11_ENST00000381604.4_Silent_p.V104V|ZMYND11_ENST00000509513.2_Silent_p.V144V|ZMYND11_ENST00000381602.4_Silent_p.V104V|ZMYND11_ENST00000558098.2_Silent_p.V144V|ZMYND11_ENST00000381584.1_Silent_p.V127V|ZMYND11_ENST00000545619.1_Intron|ZMYND11_ENST00000381591.1_Silent_p.V144V|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000403354.1_Intron|ZMYND11_ENST00000381607.4_Intron|ZMYND11_ENST00000402736.1_Silent_p.V144V|ZMYND11_ENST00000397962.3_Silent_p.V144V NM_001202466.1|NM_006624.5 NP_001189395.1|NP_006615.2 Q15326 ZMY11_HUMAN zinc finger, MYND-type containing 11 104 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 24 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AGTGCCCAGTTTGCAGGGTGA 0.453000 14 78 0 0 0.105934 0 0 CYLC1 1538 broad.mit.edu 37 X 83127918 83127918 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chrX:83127918G>C ENST00000329312.4 + 4 239 c.202G>C c.(202-204)Gaa>Caa p.E68Q NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 68 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 AAAACTAGAAGAAGGCCAGAA 0.343000 3 19 0 0 0.115264 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 4 14 0 0 0.150653 0 0 TICAM1 148022 broad.mit.edu 37 19 4817044 4817044 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:4817044G>A ENST00000248244.5 - 2 1575 c.1346C>T c.(1345-1347)tCa>tTa p.S449L NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 449 TIR. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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 kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GATGAAAGCTGAGTGGTCTAT 0.632000 8 57 0 0 0.038147 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070317 141070317 + RNA SNP A A G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr9:141070317A>G ENST00000503395.1 + 0 1397 CCTCTCTTAAACGGGCTTCGG 0.617000 3 1 0 0 0.150653 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 11 21 0 0 0.105934 0 0 ATP8A2 51761 broad.mit.edu 37 13 26436529 26436529 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr13:26436529C>G ENST00000381655.2 + 33 3308 c.3166C>G c.(3166-3168)Cca>Gca p.P1056A ATP8A2_ENST00000255283.8_Missense_Mutation_p.P991A|ATP8A2_ENST00000491840.1_3'UTR NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 1016 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TCCCATTGCTCCAGATATGAG 0.532000 7 40 0 0 0.038147 0 0 LGALS4 3960 broad.mit.edu 37 19 39299490 39299490 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:39299490G>A ENST00000307751.4 - 3 710 c.233C>T c.(232-234)aCg>aTg p.T78M LGALS4_ENST00000597803.1_Intron NM_006149.3 NP_006140.1 P56470 LEG4_HUMAN lectin, galactoside-binding, soluble, 4 78 Galectin 1. cell adhesion cytosol|plasma membrane sugar binding NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) GCCCTGCAACGTGTTGAAGAC 0.582000 11 37 0 0 0.080935 0 0 PLEC 5339 broad.mit.edu 37 8 144997457 144997457 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr8:144997457C>T ENST00000322810.4 - 31 7220 c.7051G>A c.(7051-7053)Gcg>Acg p.A2351T PLEC_ENST00000398774.2_Missense_Mutation_p.A2182T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2218T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2214T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2214T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2237T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2192T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2241T|PLEC_ENST00000356346.3_Missense_Mutation_p.A2200T NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2351 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GTGGCCTCCGCCTTCAGCCGC 0.662000 5 11 0 0 0.021553 0 0 MTMR9 66036 broad.mit.edu 37 8 11152790 11152790 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr8:11152790G>A ENST00000221086.3 + 2 743 c.270G>A c.(268-270)ttG>ttA p.L90L MTMR9_ENST00000526292.1_Silent_p.L5L NM_015458.3 NP_056273.2 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 90 cytoplasm phosphatase activity|protein binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 16 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) AGGAATGCTTGAATATAGCCA 0.323000 16 115 0 0 0.175082 0 0 ABCA13 154664 broad.mit.edu 37 7 48237849 48237849 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:48237849G>A ENST00000435803.1 + 3 203 c.179G>A c.(178-180)cGa>cAa p.R60Q NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 60 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTGCAGCCCCGAGATCTACCC 0.408000 6 18 0 0 0.038147 0 0 GBP2 2634 broad.mit.edu 37 1 89579771 89579771 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:89579771C>T ENST00000370466.3 - 7 1345 c.1077G>A c.(1075-1077)gaG>gaA p.E359E GBP2_ENST00000463660.1_5'UTR NM_004120.3 NP_004111.2 P32456 GBP2_HUMAN guanylate binding protein 2, interferon-inducible 359 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1) 20 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) TGGCCTCTCTCTCACTGTCCC 0.502000 23 97 0 0 0.083992 0 0 TMEM135 65084 broad.mit.edu 37 11 86868385 86868385 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:86868385C>T ENST00000305494.5 + 5 438 c.399C>T c.(397-399)gcC>gcT p.A133A TMEM135_ENST00000340353.7_Intron|TMEM135_ENST00000535167.1_5'UTR|TMEM135_ENST00000532959.1_Silent_p.A4A|TMEM135_ENST00000355734.4_Intron NM_022918.3 NP_075069.3 Q86UB9 TM135_HUMAN transmembrane protein 135 133 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ATTTACAGGCCACAGAAACAC 0.303000 15 57 0 0 0.146539 0 0 CYP4B1 1580 broad.mit.edu 37 1 47278285 47278285 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:47278285G>A ENST00000271153.4 + 4 521 c.485G>A c.(484-486)cGt>cAt p.R162H CYP4B1_ENST00000452782.2_5'UTR|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R147H|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R162H P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 162 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) GAGTCTACACGTATCATGCTG 0.572000 20 46 0 0 0.076483 0 0 MC4R 4160 broad.mit.edu 37 18 58039474 58039474 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr18:58039474C>T ENST00000299766.3 - 1 527 c.109G>A c.(109-111)Gat>Aat p.D37N NM_005912.2 NP_005903.2 P32245 MC4R_HUMAN melanocortin 4 receptor 37 D -> V (in obesity; dbSNP:rs13447325). feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(73;0.0946) CACCCTCCATCAGAGTAGCCT 0.512000 15 44 0 0 0.146539 0 0 NUP205 23165 broad.mit.edu 37 7 135292096 135292096 + Nonsense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:135292096C>T ENST00000285968.6 + 22 3198 c.3172C>T c.(3172-3174)Cag>Tag p.Q1058* NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1058 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 AGAATCTCCTCAGCTGGCTGA 0.498000 21 38 0 0 0.062417 0 0 AJUBA 84962 broad.mit.edu 37 14 23451250 23451250 + Nonsense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr14:23451250G>A ENST00000262713.2 - 1 601 c.226C>T c.(226-228)Cag>Tag p.Q76* RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q76* NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 76 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding GAGCCGCGCTGATTTCGCTCA 0.687000 5 13 0 0 0.014758 0 0 GHR 2690 broad.mit.edu 37 5 42718786 42718786 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:42718786G>A ENST00000230882.4 + 10 1367 c.1177G>A c.(1177-1179)Gac>Aac p.D393N GHR_ENST00000537449.1_Missense_Mutation_p.D206N|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.D371N NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 393 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TTGTGAACCTGACATTCTGGA 0.473000 20 76 0 0 0.083992 0 0 RANBP2 5903 broad.mit.edu 37 2 109399112 109399112 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:109399112G>A ENST00000283195.6 + 28 9289 c.9163G>A c.(9163-9165)Gca>Aca p.A3055T NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 3055 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 TGTATCACTGGCAGCAGAATT 0.368000 21 87 0 0 0.076483 0 0 DNAH11 8701 broad.mit.edu 37 7 21750198 21750198 + Silent SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:21750198C>G ENST00000328843.6 + 42 6763 c.6732C>G c.(6730-6732)ctC>ctG p.L2244L DNAH11_ENST00000409508.3_Silent_p.L2237L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2244 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTATAGGTCTCTTCTCATCCA 0.348000 Kartagener syndrome 4 19 0 0 0.014758 0 0 KIAA1045 23349 broad.mit.edu 37 9 34976157 34976157 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr9:34976157C>T ENST00000242315.3 + 4 655 c.573C>T c.(571-573)atC>atT p.I191I KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Silent_p.I191I NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 191 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) AGGACAACATCAACTTGCTGC 0.493000 14 36 0 0 0.119110 0 0 SLC44A2 57153 broad.mit.edu 37 19 10747142 10747142 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:10747142C>T ENST00000586078.1 + 15 1486 c.1377C>T c.(1375-1377)ttC>ttT p.F459F SLC44A2_ENST00000335757.5_Silent_p.F459F|SLC44A2_ENST00000407327.4_Silent_p.F457F NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 459 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) TGGCCAACTTCGTGCTGGCGC 0.647000 34 76 0 0 0.173368 0 0 GPR113 165082 broad.mit.edu 37 2 26533572 26533572 + Silent SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:26533572G>C ENST00000333478.6 - 8 3009 c.2427C>G c.(2425-2427)ctC>ctG p.L809L GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.L939L|GPR113_ENST00000541401.1_Silent_p.L611L|GPR113_ENST00000311519.1_Silent_p.L1008L NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 1008 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAGGGTGTTGAGAATGGTGA 0.517000 6 10 0 0 0.021553 0 0 MAPT 4137 broad.mit.edu 37 17 44061080 44061080 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr17:44061080C>G ENST00000344290.5 + 6 1232 c.910C>G c.(910-912)Cac>Gac p.H304D MAPT_ENST00000351559.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.H304D|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.H304D|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.H304D|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000535772.1_Intron NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 304 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) GTTCACGTTTCACGTGGAAAT 0.622000 12 61 0 0 0.080935 0 0 REV3L 5980 broad.mit.edu 37 6 111678329 111678329 + Splice_Site SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr6:111678329C>G ENST00000435970.1 - 20 7655 c.e20-1 REV3L_ENST00000358835.3_Splice_Site|REV3L_ENST00000368802.3_Splice_Site|REV3L_ENST00000368805.1_Splice_Site O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TATCTGATATCTAAAAAACAA 0.269000 DNA polymerases (catalytic subunits) 10 35 0 0 0.058154 0 0 ZAN 7455 broad.mit.edu 37 7 100346010 100346010 + RNA SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:100346010C>T ENST00000542585.1 + 0 1314 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GTCCAGACTTCCGGGGATGGT 0.537000 12 47 0 0 0.093190 0 0 KDR 3791 broad.mit.edu 37 4 55968137 55968137 + Silent SNP G G A rs138304068 TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr4:55968137G>A ENST00000263923.4 - 15 2488 c.2193C>T c.(2191-2193)gaC>gaT p.D731D NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 731 Ig-like C2-type 7. 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 p.D731D(1) 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) AGAGGCCTTCGTCCTCCTTCC 0.443000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 18 65 0 0 0.049695 0 0 KYNU 8942 broad.mit.edu 37 2 143799685 143799685 + Missense_Mutation SNP T T C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:143799685T>C ENST00000264170.4 + 14 1600 c.1342T>C c.(1342-1344)Tat>Cat p.Y448H KYNU_ENST00000409512.1_Missense_Mutation_p.Y448H NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 448 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) ccatgatgtttataaaTTTAC 0.363000 13 63 0 0 0.105934 0 0 HECTD4 283450 broad.mit.edu 37 12 112703016 112703016 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr12:112703016G>C ENST00000550722.1 - 16 2545 c.2150C>G c.(2149-2151)tCt>tGt p.S717C HECTD4_ENST00000430131.2_Missense_Mutation_p.S429C|HECTD4_ENST00000377560.5_Missense_Mutation_p.S679C NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 ATCATCTTTAGAGACAGTTTG 0.313000 13 40 0 0 0.093190 0 0 GPC5 2262 broad.mit.edu 37 13 92101090 92101090 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr13:92101090C>T ENST00000377067.3 + 2 611 c.239C>T c.(238-240)gCg>gTg p.A80V NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 80 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TATCAGATTGCGGCTCGCCAG 0.433000 17 50 0 0 0.062417 0 0 CCP110 9738 broad.mit.edu 37 16 19548342 19548342 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr16:19548342G>A ENST00000396212.2 + 5 1787 c.1351G>A c.(1351-1353)Gaa>Aaa p.E451K CCP110_ENST00000381396.5_Missense_Mutation_p.E451K|CCP110_ENST00000396208.2_Missense_Mutation_p.E451K NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 451 Interaction with CEP76. centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 TGAAGTCAAAGAAGATGTGGT 0.358000 13 70 0 0 0.119110 0 0 CNDP2 55748 broad.mit.edu 37 18 72180833 72180833 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr18:72180833G>A ENST00000324262.4 + 8 1098 c.782G>A c.(781-783)gGc>gAc p.G261D CNDP2_ENST00000579847.1_Missense_Mutation_p.G261D|CNDP2_ENST00000324301.8_Missense_Mutation_p.G177D NM_018235.2 NP_060705.2 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 (metallopeptidase M20 family) 261 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3) 24 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) CTGATCCCCGGCATTAACGAG 0.607000 3 30 0 0 0.115264 0 0 NEIL3 55247 broad.mit.edu 37 4 178272586 178272586 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr4:178272586C>T ENST00000264596.3 + 7 1040 c.922C>T c.(922-924)Cat>Tat p.H308Y RP11-376O6.2_ENST00000506895.1_RNA NM_018248.2 NP_060718.2 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 308 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CAGGGTGGATCATGTTATGGA 0.398000 Base excision repair (BER), DNA glycosylases 34 75 0 0 0.173368 0 0 TMEM183A 92703 broad.mit.edu 37 1 202992016 202992016 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:202992016C>T ENST00000367242.3 + 8 1059 c.979C>T c.(979-981)Cat>Tat p.H327Y NM_001079809.1|NM_138391.4 NP_001073277.1|NP_612400.3 transmembrane protein 183A endometrium(1)|large_intestine(2)|lung(1)|skin(3) 7 BRCA - Breast invasive adenocarcinoma(75;0.18) CATGCGGCATCATCGAGTGAG 0.488000 31 114 0 0 0.111260 0 0 GYS2 2998 broad.mit.edu 37 12 21757451 21757451 + Nonsense_Mutation SNP C C A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr12:21757451C>A ENST00000261195.2 - 1 330 c.76G>T c.(76-78)Gag>Tag p.E26* NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 26 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 AGTAACTCCTCCACAGGAAGT 0.507000 4 101 0.150653 0.153523 0.150653 1 0 EPM2AIP1 9852 broad.mit.edu 37 3 37034418 37034418 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:37034418C>T ENST00000322716.5 - 1 377 c.151G>A c.(151-153)Gaa>Aaa p.E51K NM_014805.3 NP_055620.1 Q7L775 EPMIP_HUMAN EPM2A (laforin) interacting protein 1 51 endoplasmic reticulum breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2) 27 ACGTCGCGTTCGCGGGTAGCT 0.677000 9 30 0 0 0.047766 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303720 151303720 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chrX:151303720C>T ENST00000370323.4 - 4 689 c.373G>A c.(373-375)Gac>Aac p.D125N MAGEA10_ENST00000244096.3_Missense_Mutation_p.D125N|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 125 p.D125H(1) endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GACTCACTGTCTGGCAGGACC 0.502000 47 146 0 0 0.139131 0 0 LRRC1 55227 broad.mit.edu 37 6 53761313 53761313 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr6:53761313C>T ENST00000370888.1 + 5 741 c.464C>T c.(463-465)tCa>tTa p.S155L NM_018214.4 NP_060684.4 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 155 cytoplasm|membrane cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) AACCTGGCTTCACTGGAACTG 0.368000 14 51 0 0 0.132662 0 0 HN1L 90861 broad.mit.edu 37 16 1741947 1741947 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr16:1741947C>T ENST00000248098.3 + 3 354 c.297C>T c.(295-297)gtC>gtT p.V99V HN1L_ENST00000382711.5_Silent_p.V83V|HN1L_ENST00000561516.1_Intron|HN1L_ENST00000382710.4_Silent_p.V87V|HN1L_ENST00000562684.1_Silent_p.V127V|HN1L_ENST00000569765.1_Intron|HN1L_ENST00000569256.1_3'UTR NM_144570.2 NP_653171.1 Q9H910 HN1L_HUMAN hematological and neurological expressed 1-like 99 cytoplasm|nucleus endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1) 9 GGTCTCCGGTCACTGCCACTT 0.542000 15 46 0 0 0.160694 0 0 SLC9A3 6550 broad.mit.edu 37 5 482690 482690 + Missense_Mutation SNP G G C rs141238439 TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:482690G>C ENST00000264938.3 - 7 1338 c.1329C>G c.(1327-1329)atC>atG p.I443M SLC9A3_ENST00000514375.1_Missense_Mutation_p.I443M NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 443 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AGAACACTACGATGATGGTGG 0.662000 15 66 0 0 0.132662 0 0 CES3 23491 broad.mit.edu 37 16 67005131 67005131 + Silent SNP G G T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr16:67005131G>T ENST00000303334.4 + 10 1271 c.1200G>T c.(1198-1200)tcG>tcT p.S400S CES3_ENST00000394037.1_Silent_p.S400S|CES3_ENST00000543856.1_Silent_p.S39S NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 400 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) GAAGCAACTCGGACGCACAAG 0.537000 16 33 2.32078e-09 2.45057e-09 0.132662 1 0 NLRP6 171389 broad.mit.edu 37 11 280967 280967 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:280967G>A ENST00000534750.1 + 4 1438 c.1233G>A c.(1231-1233)acG>acA p.T411T NLRP6_ENST00000312165.5_Silent_p.T411T NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 411 NACHT. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) TGTCGCGCACGTCCAAGACCA 0.652000 43 134 0 0 0.098360 0 0 PDE4D 5144 broad.mit.edu 37 5 58289223 58289223 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:58289223C>G ENST00000340635.6 - 7 1166 c.991G>C c.(991-993)Gag>Cag p.E331Q PDE4D_ENST00000405755.2_Missense_Mutation_p.E209Q|PDE4D_ENST00000360047.5_Missense_Mutation_p.E195Q|PDE4D_ENST00000358923.6_Missense_Mutation_p.E29Q|PDE4D_ENST00000507116.1_Missense_Mutation_p.E267Q|PDE4D_ENST00000502484.2_Missense_Mutation_p.E270Q|PDE4D_ENST00000546160.1_Missense_Mutation_p.E270Q|PDE4D_ENST00000503258.1_Missense_Mutation_p.E201Q|PDE4D_ENST00000317118.8_Missense_Mutation_p.E40Q NM_001104631.1 NP_001098101.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 331 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) GATATAAACTCTGACACTTGA 0.343000 12 41 0 0 0.105934 0 0 RACGAP1 29127 broad.mit.edu 37 12 50392997 50392997 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr12:50392997C>G ENST00000434422.1 - 10 1107 c.806G>C c.(805-807)aGa>aCa p.R269T RACGAP1_ENST00000454520.2_Missense_Mutation_p.R269T|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R269T|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R269T|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R269T|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R269T|RACGAP1_ENST00000547061.1_5'UTR Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 269 Interaction with SLC26A8. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6) 14 TGTCTCAGTTCTTGGCTCCAG 0.443000 10 36 0 0 0.093190 0 0 KALRN 8997 broad.mit.edu 37 3 124380748 124380748 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:124380748G>A ENST00000360013.3 + 45 6442 c.6315G>A c.(6313-6315)atG>atA p.M2105I KALRN_ENST00000393496.1_Missense_Mutation_p.M446I|KALRN_ENST00000428018.2_Missense_Mutation_p.M376I|KALRN_ENST00000291478.4_Missense_Mutation_p.M408I|KALRN_ENST00000459915.1_Missense_Mutation_p.M197I NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2104 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.M2105I(1)|p.M408I(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 ATGACATGATGAATCTAGGAC 0.507000 28 89 0 0 0.108266 0 0 PTPN14 5784 broad.mit.edu 37 1 214556663 214556663 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:214556663C>T ENST00000366956.5 - 13 2729 c.2535G>A c.(2533-2535)atG>atA p.M845I PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 845 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CCCTGATCATCATCTCTCTCT 0.512000 18 61 0 0 0.043863 0 0 BTAF1 9044 broad.mit.edu 37 10 93719794 93719794 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr10:93719794G>C ENST00000265990.6 + 11 1454 c.1146G>C c.(1144-1146)atG>atC p.M382I BTAF1_ENST00000471217.1_3'UTR NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 382 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) TAAAACACATGAACGAAACAG 0.383000 29 87 0 0 0.125774 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857019 19857019 + RNA SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr14:19857019C>T ENST00000548109.1 + 0 72 ATTATACTCTCAGCATCCTGG 0.383000 5 144 0 0 0.029380 0 0 ZNF496 84838 broad.mit.edu 37 1 247492661 247492661 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:247492661C>T ENST00000294753.4 - 3 684 c.220G>A c.(220-222)Gag>Aag p.E74K ZNF496_ENST00000366498.2_Missense_Mutation_p.E74K NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 74 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) GTGTGCCTCTCAGGCCGCAGC 0.711000 8 29 0 0 0.038147 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24256527 24256527 + Missense_Mutation SNP G G T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr8:24256527G>T ENST00000538205.1 + 10 1213 c.666G>T c.(664-666)aaG>aaT p.K222N RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.K301N|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.K222N NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 301 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) TGGGGAAAAAGATCCACGACC 0.512000 7 25 3.09899e-07 3.24031e-07 0.047766 1 0 POLQ 10721 broad.mit.edu 37 3 121207251 121207251 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:121207251C>T ENST00000264233.5 - 16 4655 c.4527G>A c.(4525-4527)atG>atA p.M1509I NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1509 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) GGGGTTCTTTCATTTGCATAT 0.318000 DNA polymerases (catalytic subunits) 18 58 0 0 0.043863 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27907945 27907945 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:27907945G>A ENST00000326019.6 + 10 2199 c.1917G>A c.(1915-1917)atG>atA p.M639I NM_018158.2 NP_060628.2 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), member 1, adaptor protein 639 cytoplasm|nucleus double-stranded RNA binding|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.155) CAACTCTAATGAGAATGAAAG 0.413000 18 46 0 0 0.175082 0 0 STARD13 90627 broad.mit.edu 37 13 33701584 33701584 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr13:33701584G>A ENST00000336934.5 - 6 1964 c.1848C>T c.(1846-1848)ctC>ctT p.L616L STARD13_ENST00000399365.3_Silent_p.L498L|STARD13_ENST00000255486.4_Silent_p.L608L NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 616 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) AGAAGCGCTGGAGCAGGCTCA 0.642000 5 15 0 0 0.014758 0 0 XIRP1 165904 broad.mit.edu 37 3 39228921 39228921 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:39228921G>A ENST00000340369.3 - 2 2244 c.2016C>T c.(2014-2016)ggC>ggT p.G672G XIRP1_ENST00000396251.1_Silent_p.G672G|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 672 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) CACAGGGACGGCCTGAGGCCT 0.612000 12 54 0 0 0.093190 0 0 CDH19 28513 broad.mit.edu 37 18 64176484 64176484 + Splice_Site SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr18:64176484C>G ENST00000262150.2 - 11 1869 c.e11-1 CDH19_ENST00000540086.1_Intron NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) GCTGTGTTATCTAAAACAAAA 0.343000 9 17 0 0 0.058154 0 0 FUT2 2524 broad.mit.edu 37 19 49206875 49206875 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:49206875G>A ENST00000425340.2 + 2 779 c.662G>A c.(661-663)cGa>cAa p.R221Q FUT2_ENST00000391876.4_Missense_Mutation_p.R221Q NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 221 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) GCCGACCGGCGATACCTACAG 0.607000 23 95 0 0 0.076483 0 0 ANKRD20A4 728747 broad.mit.edu 37 9 69420272 69420272 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr9:69420272G>A ENST00000357336.3 + 13 1443 c.1162G>A c.(1162-1164)Gga>Aga p.G388R NM_001098805.1 NP_001092275.1 Q4UJ75 A20A4_HUMAN ankyrin repeat domain 20 family, member A4 388 breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2) 16 GGTCAAAGAAGGAAATAATAC 0.259000 3 45 0 0 0.038147 0 0 ABL2 27 broad.mit.edu 37 1 179084052 179084052 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:179084052C>T ENST00000502732.1 - 9 1725 c.1522G>A c.(1522-1524)Gag>Aag p.E508K ABL2_ENST00000408940.3_Missense_Mutation_p.E472K|ABL2_ENST00000367623.4_Missense_Mutation_p.E487K|ABL2_ENST00000344730.3_Missense_Mutation_p.E493K|ABL2_ENST00000507173.1_Missense_Mutation_p.E487K|ABL2_ENST00000392043.3_Missense_Mutation_p.E487K|ABL2_ENST00000504405.1_Missense_Mutation_p.E472K|ABL2_ENST00000512653.1_Missense_Mutation_p.E493K|ABL2_ENST00000511413.1_Missense_Mutation_p.E508K 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 508 Protein kinase. 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 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) GGGCATCCCTCAGGCTGTTCC 0.403000 T ETV6 AML 22 72 0 0 0.055883 0 0 CDKN2AIP 55602 broad.mit.edu 37 4 184367411 184367411 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr4:184367411C>T ENST00000504169.1 + 3 781 c.574C>T c.(574-576)Cgg>Tgg p.R192W CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR NM_017632.2 NP_060102.1 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 192 Ser-rich. negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) GAACTCAGCTCGGAGCTCTGG 0.512000 6 44 0 0 0.029380 0 0 MOS 4342 broad.mit.edu 37 8 57025568 57025568 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr8:57025568G>A ENST00000311923.1 - 1 973 c.974C>T c.(973-975)gCg>gTg p.A325V NM_005372.1 NP_005363.1 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene homolog 325 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity p.A325V(1) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2) 22 Epithelial(17;0.00117)|all cancers(17;0.00879) CCTCTGCGCCGCGCTGGGTCT 0.627000 8 32 0 0 0.058154 0 0 ARSI 340075 broad.mit.edu 37 5 149677914 149677914 + Silent SNP G G A rs150264448 byFrequency TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:149677914G>A ENST00000328668.7 - 2 1152 c.573C>T c.(571-573)ttC>ttT p.F191F NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 191 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGTGCAGGTCGAAGCCGCACA 0.627000 5 23 0 0 0.014758 0 0 ZNF580 51157 broad.mit.edu 37 19 56154207 56154207 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:56154207C>T ENST00000543039.1 + 1 790 c.333C>T c.(331-333)cgC>cgT p.R111R ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000545125.1_Silent_p.R111R|ZNF580_ENST00000325333.5_Silent_p.R111R NM_016202.2 NP_057286.1 Q9UK33 ZN580_HUMAN zinc finger protein 580 111 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1)|upper_aerodigestive_tract(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) AGAGCCACCGCGTGTCGCACT 0.731000 3 17 0 0 0.115264 0 0 CFTR 1080 broad.mit.edu 37 7 117227829 117227829 + Missense_Mutation SNP C C A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:117227829C>A ENST00000003084.6 + 12 1753 c.1621C>A c.(1621-1623)Ctt>Att p.L541I CFTR_ENST00000454343.1_Missense_Mutation_p.L480I NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 541 ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CAATATAGTTCTTGGAGAAGG 0.358000 Cystic Fibrosis 18 29 5.35356e-11 5.69037e-11 0.076483 1 0 SOX2 6657 broad.mit.edu 37 3 181430864 181430864 + Missense_Mutation SNP C C A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:181430864C>A ENST00000325404.1 + 1 1143 c.716C>A c.(715-717)tCc>tAc p.S239Y SOX2_ENST00000431565.2_Missense_Mutation_p.S239Y NM_003106.3 NP_003097.1 P48431 SOX2_HUMAN SRY (sex determining region Y)-box 2 239 cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance cytosol|transcription factor complex miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 10 all_cancers(143;1.22e-16)|Ovarian(172;0.0283) all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08) GCTCTTGGCTCCATGGGTTCG 0.652000 A """NSCLC, oesophageal squamous carcinoma""" MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME 18 61 9.16793e-09 9.64887e-09 0.160694 1 0 ESPL1 9700 broad.mit.edu 37 12 53664560 53664560 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr12:53664560G>A ENST00000257934.4 + 5 1438 c.1347G>A c.(1345-1347)ctG>ctA p.L449L ESPL1_ENST00000552462.1_Silent_p.L449L NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 449 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 GCCAAGAGCTGACGGACCACA 0.547000 20 61 0 0 0.055883 0 0 ZNF490 57474 broad.mit.edu 37 19 12721450 12721450 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:12721450G>A ENST00000311437.6 - 1 167 c.45C>T c.(43-45)ctC>ctT p.L15L ZNF490_ENST00000465656.1_Intron NM_020714.2 NP_065765.1 Q9ULM2 ZN490_HUMAN zinc finger protein 490 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 CTTGCTCCTCGAGGGGTCGCT 0.567000 14 30 0 0 0.132662 0 0 SCN2B 6327 broad.mit.edu 37 11 118037736 118037736 + Missense_Mutation SNP C C A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:118037736C>A ENST00000278947.5 - 4 755 c.514G>T c.(514-516)Gtg>Ttg p.V172L NM_004588.4 NP_004579.1 O60939 SCN2B_HUMAN sodium channel, voltage-gated, type II, beta subunit 172 synaptic transmission voltage-gated sodium channel complex voltage-gated sodium channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 7 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117) AAGATGACCACAGCCAGGAAG 0.597000 12 59 0.105934 0.108641 0.105934 1 0 SAMD1 90378 broad.mit.edu 37 19 14199324 14199324 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:14199324G>A ENST00000533683.2 - 5 1491 c.1204C>T c.(1204-1206)Cgc>Tgc p.R402C NM_138352.1 NP_612361.1 Q6SPF0 SAMD1_HUMAN sterile alpha motif domain containing 1 508 cytoplasm|extracellular region endometrium(3) 3 Renal(1328;0.00183)|Hepatocellular(1079;0.00826) GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199) GGCCCGAGGCGGATGGACAGG 0.577000 10 36 0 0 0.058154 0 0 SRSF5 6430 broad.mit.edu 37 14 70237755 70237755 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr14:70237755G>A ENST00000553521.1 + 8 1937 c.484G>A c.(484-486)Gaa>Aaa p.E162K SRSF5_ENST00000553635.1_Missense_Mutation_p.E159K|SRSF5_ENST00000557154.1_Missense_Mutation_p.E162K|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Missense_Mutation_p.E162K Q13243 SRSF5_HUMAN serine/arginine-rich splicing factor 5 162 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding large_intestine(1)|liver(1) 2 GAATGCTATTGAAAAACTTTC 0.328000 14 51 0 0 0.119110 0 0 ANKZF1 55139 broad.mit.edu 37 2 220098944 220098944 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:220098944G>A ENST00000323348.5 + 9 1312 c.1138G>A c.(1138-1140)Gaa>Aaa p.E380K ANKZF1_ENST00000410034.3_Missense_Mutation_p.E380K|ANKZF1_ENST00000409849.1_Missense_Mutation_p.E170K NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 380 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TACTGAGGAAGAAATAAGAAA 0.468000 9 51 0 0 0.047766 0 0 APLP2 334 broad.mit.edu 37 11 129999970 129999970 + Missense_Mutation SNP G G A rs140505383 byFrequency TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:129999970G>A ENST00000263574.5 + 11 1565 c.1493G>A c.(1492-1494)cGt>cAt p.R498H APLP2_ENST00000528499.1_Missense_Mutation_p.R442H|APLP2_ENST00000543137.1_Missense_Mutation_p.R405H|APLP2_ENST00000539648.1_Missense_Mutation_p.R286H|APLP2_ENST00000345598.5_Missense_Mutation_p.R269H|APLP2_ENST00000338167.5_Missense_Mutation_p.R498H|APLP2_ENST00000278756.7_Missense_Mutation_p.R508H NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 498 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) CGTTATGTCCGTGCTGAGAAC 0.468000 4 124 0 0 0.150653 0 0 RELN 5649 broad.mit.edu 37 7 103151303 103151303 + Missense_Mutation SNP A A G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:103151303A>G ENST00000424685.2 - 51 8428 c.8269T>C c.(8269-8271)Ttc>Ctc p.F2757L RELN_ENST00000343529.5_Missense_Mutation_p.F2757L|RELN_ENST00000428762.1_Missense_Mutation_p.F2757L|CTB-107G13.1_ENST00000422488.1_RNA P78509 RELN_HUMAN reelin 2757 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) TTCACCTTGAATTGCATAATC 0.388000 8 28 0 0 0.047766 0 0 FAM188B 84182 broad.mit.edu 37 7 30830790 30830790 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:30830790C>T ENST00000265299.6 + 5 750 c.673C>T c.(673-675)Cac>Tac p.H225Y INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 225 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGATTCTTTTCACAGACACTA 0.512000 48 149 0 0 0.139131 0 0 BANK1 55024 broad.mit.edu 37 4 102751026 102751026 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr4:102751026G>C ENST00000504592.1 + 6 505 c.87G>C c.(85-87)ttG>ttC p.L29F BANK1_ENST00000508653.1_Intron|BANK1_ENST00000444316.2_Missense_Mutation_p.L14F|BANK1_ENST00000322953.4_Missense_Mutation_p.L44F|BANK1_ENST00000428908.1_Intron Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 44 Interaction with ITPR2. B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) CTCTGTACTTGACAGAAGTAT 0.333000 4 47 0 0 0.150653 0 0 IL10RA 3587 broad.mit.edu 37 11 117869847 117869847 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:117869847G>A ENST00000227752.3 + 7 1348 c.1228G>A c.(1228-1230)Gag>Aag p.E410K IL10RA_ENST00000545409.1_Missense_Mutation_p.E261K|IL10RA_ENST00000541785.1_Missense_Mutation_p.E390K|IL10RA_ENST00000533700.1_3'UTR NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 410 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) TCAAAACTCTGAGGGCCGGGC 0.652000 10 41 0 0 0.058154 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671493 39671493 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr21:39671493C>G ENST00000398930.1 + 4 664 c.310C>G c.(310-312)Cat>Gat p.H104D KCNJ15_ENST00000328656.3_Missense_Mutation_p.H104D|KCNJ15_ENST00000398934.1_Missense_Mutation_p.H104D|KCNJ15_ENST00000398938.2_Missense_Mutation_p.H104D|KCNJ15_ENST00000398932.1_Missense_Mutation_p.H104D Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 104 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 CATTTCAAATCATACCCCCTG 0.493000 20 73 0 0 0.062417 0 0 CCDC88A 55704 broad.mit.edu 37 2 55561402 55561402 + Nonsense_Mutation SNP A A T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:55561402A>T ENST00000436346.1 - 15 3396 c.2555T>A c.(2554-2556)tTa>tAa p.L852* CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.L852*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.L852*|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.L852*|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 852 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 ATTTTCTTCTAATGTGGTATC 0.323000 15 70 0 0 0.132662 0 0 CD163 9332 broad.mit.edu 37 12 7639395 7639395 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr12:7639395G>A ENST00000359156.4 - 10 2360 c.2158C>T c.(2158-2160)Cgc>Tgc p.R720C CD163_ENST00000432237.2_Missense_Mutation_p.R720C|CD163_ENST00000396620.3_Missense_Mutation_p.R753C|CD163_ENST00000541972.1_Missense_Mutation_p.R708C NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 720 SRCR 7. 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 TTTACCAGGCGAAGTTGACCA 0.448000 20 67 0 0 0.043863 0 0 SH3TC1 54436 broad.mit.edu 37 4 8230222 8230222 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr4:8230222C>T ENST00000539824.1 + 12 2947 c.2573C>T c.(2572-2574)tCg>tTg p.S858L SH3TC1_ENST00000245105.3_Missense_Mutation_p.S934L Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 934 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CGGCTGTTCTCGAGGCTGCCC 0.711000 12 27 0 0 0.080935 0 0 DOCK2 1794 broad.mit.edu 37 5 169503008 169503008 + Nonsense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:169503008C>T ENST00000256935.8 + 47 4866 c.4786C>T c.(4786-4788)Cga>Tga p.R1596* DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.R657*|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.R1088* NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1596 DHR-2. 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) AGATAACTTGCGACCCTTCCA 0.502000 34 86 0 0 0.183431 0 0 SH3BP4 23677 broad.mit.edu 37 2 235962446 235962446 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:235962446G>A ENST00000409212.1 + 6 3385 c.2878G>A c.(2878-2880)Gac>Aac p.D960N SH3BP4_ENST00000392011.2_Missense_Mutation_p.D960N|SH3BP4_ENST00000344528.4_Missense_Mutation_p.D960N Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 960 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) GGACCAGGACGACTTCGTGAT 0.622000 10 72 0 0 0.069234 0 0 CHRD 8646 broad.mit.edu 37 3 184100495 184100495 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr3:184100495C>T ENST00000204604.1 + 8 1161 c.915C>T c.(913-915)ctC>ctT p.L305L CHRD_ENST00000450923.1_Silent_p.L305L|CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Silent_p.L305L|EIF2B5_ENST00000444495.1_Intron NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 305 CHRD 2. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGCTCACTCTCAGTGACACAG 0.592000 24 93 0 0 0.083992 0 0 FAT1 2195 broad.mit.edu 37 4 187531171 187531171 + Splice_Site SNP T T A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr4:187531171T>A ENST00000441802.2 - 15 10063 c.e15-2 NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ATACGGCCCCTGAATAGAAAT 0.413000 HNSCC(5;0.00058) 5 12 0 0 0.014758 0 0 CA4 762 broad.mit.edu 37 17 58235751 58235751 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr17:58235751G>A ENST00000300900.4 + 7 787 c.688G>A c.(688-690)Gat>Aat p.D230N NM_000717.3 NP_000708.1 P22748 CAH4_HUMAN carbonic anhydrase IV 230 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) ACCGACCTGCGATGAGAAGGT 0.612000 11 32 0 0 0.080935 0 0 PEX1 5189 broad.mit.edu 37 7 92146808 92146808 + Missense_Mutation SNP G G C rs137856931 TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:92146808G>C ENST00000248633.4 - 5 1116 c.1021C>G c.(1021-1023)Cca>Gca p.P341A PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.P341A NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 341 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TGTTGCTTTGGAGAAAGTAGC 0.368000 13 39 0 0 0.093190 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145015938 145015938 + Silent SNP C C T rs144857876 byFrequency TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:145015938C>T ENST00000369359.4 - 3 401 c.363G>A c.(361-363)ccG>ccA p.P121P PDE4DIP_ENST00000493130.2_Silent_p.P50P|PDE4DIP_ENST00000478649.2_Silent_p.P50P|PDE4DIP_ENST00000530740.1_Silent_p.P121P|PDE4DIP_ENST00000313382.9_Silent_p.P50P|PDE4DIP_ENST00000369348.3_Silent_p.P121P Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.P121P(1) 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) TCTGCACAAACGGGACCTTTT 0.443000 T PDGFRB MPD 29 492 0 0 0.116897 0 0 NR1D1 9572 broad.mit.edu 37 17 38251870 38251870 + Missense_Mutation SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr17:38251870G>A ENST00000246672.3 - 5 1705 c.1075C>T c.(1075-1077)Cgc>Tgc p.R359C NM_021724.3 NP_068370.1 P20393 NR1D1_HUMAN nuclear receptor subfamily 1, group D, member 1 359 cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 11 Colorectal(19;0.000442) GGAGCCTGGCGCAGACCATTT 0.637000 4 84 0 0 0.014758 0 0 DGAT2 84649 broad.mit.edu 37 11 75508295 75508295 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:75508295G>C ENST00000228027.7 + 6 987 c.727G>C c.(727-729)Gag>Cag p.E243Q DGAT2_ENST00000376262.3_Missense_Mutation_p.E200Q NM_032564.4 NP_115953.2 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 243 glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17 Ovarian(111;0.103) GGGTGCGGCTGAGTCTCTGAG 0.572000 24 68 0 0 0.076483 0 0 CD3EAP 10849 broad.mit.edu 37 19 45910392 45910392 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr19:45910392G>A ENST00000309424.3 + 2 551 c.63G>A c.(61-63)aaG>aaA p.K21K CD3EAP_ENST00000589804.1_Silent_p.K23K NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 21 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TTACCGCGAAGCCCCCAGCCT 0.597000 17 60 0 0 0.043863 0 0 ZAN 7455 broad.mit.edu 37 7 100345237 100345237 + RNA SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:100345237C>G ENST00000542585.1 + 0 1144 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CTGTTTCTGTCAATTACACAG 0.512000 14 45 0 0 0.132662 0 0 ACLY 47 broad.mit.edu 37 17 40063716 40063716 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr17:40063716G>A ENST00000352035.2 - 7 856 c.726C>T c.(724-726)ttC>ttT p.F242F ACLY_ENST00000353196.1_Silent_p.F242F|ACLY_ENST00000393896.2_Silent_p.F242F|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Silent_p.F242F NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 242 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity p.F242F(1) NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CCTCCCGCCCGAAGGGGGGAG 0.582000 4 72 0 0 0.029380 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43630162 43630162 + Silent SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:43630162C>T ENST00000431635.2 - 10 1186 c.1038G>A c.(1036-1038)aaG>aaA p.K346K EBNA1BP2_ENST00000236051.2_Silent_p.K291K NM_001159936.1 NP_001153408.1 Q99848 EBP2_HUMAN EBNA1 binding protein 2 291 ribosome biogenesis membrane fraction|nucleolus protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(9) 16 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTCCAGGTCTCTTCTACAGAA 0.448000 12 66 0 0 0.105934 0 0 CCNE2 9134 broad.mit.edu 37 8 95902690 95902690 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr8:95902690C>T ENST00000520509.1 - 6 658 c.406G>A c.(406-408)Gac>Aac p.D136N CCNE2_ENST00000396133.3_Missense_Mutation_p.D136N|CCNE2_ENST00000308108.4_Missense_Mutation_p.D136N|CCNE2_ENST00000523476.1_5'UTR O96020 CCNE2_HUMAN cyclin E2 136 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) GGTTCCAAGTCAGAATGCAGA 0.373000 45 190 0 0 0.124865 0 0 OR51M1 390059 broad.mit.edu 37 11 5411115 5411115 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:5411115C>T ENST00000328611.3 + 1 509 c.487C>T c.(487-489)Cgg>Tgg p.R163W HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 163 integral to membrane olfactory receptor activity p.R163R(1) NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTCATCTTCCGGGGACCTGT 0.542000 42 180 0 0 0.131918 0 0 MALAT1 378938 broad.mit.edu 37 11 65270662 65270662 + RNA SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:65270662G>C ENST00000534336.1 + 0 5430 NR_002819.2 GCTGTTAACAGATAAGTTTAA 0.408000 5 12 0 0 0.021553 0 0 PRTFDC1 56952 broad.mit.edu 37 10 25197546 25197546 + Missense_Mutation SNP C C G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr10:25197546C>G ENST00000376376.3 - 4 424 c.408G>C c.(406-408)atG>atC p.M136I PRTFDC1_ENST00000320152.6_Intron|PRTFDC1_ENST00000376378.1_Intron|RN7SKP241_ENST00000464584.2_RNA Q9NRG1 PRDC1_HUMAN phosphoribosyl transferase domain containing 1 0 adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 cacagctactcatataccctt 0.512000 12 22 0 0 0.080935 0 0 TPM1 7168 broad.mit.edu 37 15 63336307 63336307 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr15:63336307G>C ENST00000357980.4 + 3 401 c.322G>C c.(322-324)Gat>Cat p.D108H TPM1_ENST00000403994.3_Missense_Mutation_p.D66H|TPM1_ENST00000358278.3_Missense_Mutation_p.D66H|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000288398.6_Missense_Mutation_p.D66H|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559556.1_Missense_Mutation_p.D66H P09493 TPM1_HUMAN tropomyosin 1 (alpha) 66 cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber actin binding|structural constituent of cytoskeleton|structural constituent of muscle endometrium(1)|large_intestine(1)|lung(2) 4 GGCTCTCAAAGATGCCCAGGA 0.567000 10 38 0 0 0.069234 0 0 EPHA2 1969 broad.mit.edu 37 1 16475129 16475130 + Frame_Shift_Del DEL CA CA - TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:16475129_16475130delCA ENST00000358432.5 - 3 720_721 c.566_567delTG c.(565-567)gfs p.V189fs EPHA2_ENST00000461614.1_5'UTR NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 189 Cys-rich. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) AGAGCAGCGCCACACAGGCACC 0.644 28 56 --- --- --- --- IRF2BP2 359948 broad.mit.edu 37 1 234743542 234743543 + Frame_Shift_Ins INS - - CC TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr1:234743542_234743543insCC ENST00000366609.3 - 2 1134_1135 c.1104_1105insGG c.(1102-1107)ggccccfs p.P369fs RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Frame_Shift_Ins_p.P353fs|IRF2BP2_ENST00000491430.1_5'UTR NM_182972.2 NP_892017.2 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) ATCTTAGGGGGCCCGACTTCAC 0.520 11 59 --- --- --- --- PLA2R1 22925 broad.mit.edu 37 2 160826691 160826692 + Frame_Shift_Ins INS - - C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:160826691_160826692insC ENST00000283243.7 - 18 2833_2834 c.2627_2628insG c.(2626-2628)gctfs p.A876fs PLA2R1_ENST00000392771.1_Frame_Shift_Ins_p.A876fs NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 876 C-type lectin 5. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CTTCTTGAAGTCCAATCCACCA 0.322 10 55 --- --- --- --- CASP8 841 broad.mit.edu 37 2 202131502 202131505 + Frame_Shift_Del DEL TTTC TTTC - TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr2:202131502_202131505delTTTC ENST00000358485.4 + 2 666_669 c.470_473delTTTC c.(469-474)atfs p.IS157fs CASP8_ENST00000432109.2_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000392258.3_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000392259.2_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000392266.3_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000323492.7_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000264274.9_Frame_Shift_Del_p.IS98fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.IS98fs NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 98 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 AGGGCTCAAATTTCTGCCTACAGG 0.495 HNSCC(4;0.00038) 7 29 --- --- --- --- ANXA2R 389289 broad.mit.edu 37 5 43040059 43040060 + Frame_Shift_Ins INS - - GAAC TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr5:43040059_43040060insGAAC ENST00000314890.3 - 2 1508_1509 c.89_90insGTTC c.(88-90)tgafs p.*30fs NM_001014279.2 NP_001014301.1 Q3ZCQ2 AX2R_HUMAN annexin A2 receptor 30 receptor activity CACGATCTTCTGAACTCACAAT 0.569 OREG0016598 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 68 --- --- --- --- ABCC10 89845 broad.mit.edu 37 6 43400148 43400148 + Frame_Shift_Del DEL G G - TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr6:43400148delG ENST00000244533.3 + 1 660 c.301delG c.(301-303)ctfs p.A101fs ABCC10_ENST00000372530.4_Frame_Shift_Del_p.A144fs|ABCC10_ENST00000443426.2_Intron NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 144 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CTTGCTGCCAGCTCCAGCCCT 0.652 20 67 --- --- --- --- DST 667 broad.mit.edu 37 6 56483703 56483704 + Frame_Shift_Ins INS - - G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr6:56483703_56483704insG ENST00000370765.6 - 23 5235_5236 c.5128_5129insC c.(5128-5130)agafs p.R1710fs DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1073 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATTTAACTCTTGCACCTGAGCT 0.416 43 169 --- --- --- --- DLL1 28514 broad.mit.edu 37 6 170592567 170592569 + In_Frame_Del DEL CTT CTT - TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr6:170592567_170592569delCTT ENST00000366756.3 - 9 2131_2133 c.1798_1800delAAG c.(1798-1800)del p.K600del NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 600 cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) CTGAGATGTCCTTCTCACGCTGG 0.631 17 104 --- --- --- --- RAPGEF5 9771 broad.mit.edu 37 7 22259497 22259499 + In_Frame_Del DEL CTC CTC - TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr7:22259497_22259499delCTC ENST00000344041.6 - 9 835_837 c.523_525delGAG c.(523-525)del p.E175del RAPGEF5_ENST00000475788.1_5'UTR|RAPGEF5_ENST00000405243.1_In_Frame_Del_p.E328del NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 0 N-terminal Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 GTTCAGACTTCTCCTGTTCTTTT 0.419 9 58 --- --- --- --- BMP1 649 broad.mit.edu 37 8 22058705 22058706 + Frame_Shift_Ins INS - - C rs143154292 TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr8:22058705_22058706insC ENST00000306349.8 + 16 2336_2337 c.2182_2183insC c.(2182-2184)cccfs p.P728fs BMP1_ENST00000306385.5_Intron|BMP1_ENST00000354870.5_Intron NM_001199.3 NP_001190.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 0 EGF-like 2; calcium-binding (Potential). cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) AAGAAACCGGACCCCCCAGTGA 0.614 43 210 --- --- --- --- FAM74A3 728495 broad.mit.edu 37 9 40715911 40715944 + RNA DEL GAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA GAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA - rs62565542 TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr9:40715911_40715944delGAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA ENST00000604146.1 + 0 250_283 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GGCTGTCCCGGAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCAGAGAAGACGT 0.568 4 6 --- --- --- --- C10orf120 399814 broad.mit.edu 37 10 124457552 124457553 + Frame_Shift_Ins INS - - T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr10:124457552_124457553insT ENST00000329446.4 - 3 735_736 c.704_705insA c.(703-705)aacfs p.N235fs NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 235 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) GTCTTTTTGTGTTTTTTCCCTC 0.371 10 39 --- --- --- --- C11orf80 79703 broad.mit.edu 37 11 66568153 66568154 + Frame_Shift_Del DEL CA CA - TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:66568153_66568154delCA ENST00000360962.4 + 7 766_767 c.759_760delCA c.(757-762)tccafs p.ST253fs C11orf80_ENST00000540737.1_Frame_Shift_Del_p.ST87fs|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000532565.2_Frame_Shift_Del_p.ST34fs|C11orf80_ENST00000525449.2_Frame_Shift_Del_p.ST98fs|C11orf80_ENST00000527634.1_Frame_Shift_Del_p.ST34fs|C11orf80_ENST00000346672.4_Frame_Shift_Del_p.ST98fs NM_024650.3 NP_078926.3 Q8N6T0 CK080_HUMAN chromosome 11 open reading frame 80 98 autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 GAATCCTCTCCACAGAGATCTT 0.356 5 8 --- --- --- --- TECTA 7007 broad.mit.edu 37 11 120979983 120979983 + Frame_Shift_Del DEL C C - TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr11:120979983delC ENST00000392793.1 + 4 533 c.262delC c.(262-264)ccfs p.P88fs TECTA_ENST00000264037.2_Frame_Shift_Del_p.P88fs O75443 TECTA_HUMAN tectorin alpha 88 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AGAATCCTTTCCCCTGACAGA 0.488 12 25 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48881435 48881435 + Frame_Shift_Del DEL G G - TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr13:48881435delG ENST00000267163.4 + 2 295 c.157delG c.(157-159)aafs p.E54fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 54 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(3)|p.E53K(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGAAGAAACAGAAGAACCTGA 0.328 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 11 64 --- --- --- --- CHD8 57680 broad.mit.edu 37 14 21859144 21859144 + Frame_Shift_Del DEL C C - TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr14:21859144delC ENST00000399982.2 - 36 7208 c.7144delG c.(7144-7146)aafs p.E2382fs CHD8_ENST00000557364.1_Frame_Shift_Del_p.E2382fs|CHD8_ENST00000430710.3_Frame_Shift_Del_p.E2103fs NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2382 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TGTACTGGTTCCATTCCCAAA 0.368 2 4 --- --- --- --- OR4N4 283694 broad.mit.edu 37 15 22382920 22382921 + Frame_Shift_Ins INS - - T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr15:22382920_22382921insT ENST00000328795.4 + 1 539_540 c.448_449insT c.(448-450)tggfs p.W150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GGCTCTGTGGCTTGGGGGTTTT 0.535 27 137 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51175655 51175656 + In_Frame_Ins INS - - GCTGCT rs113614842 TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr16:51175655_51175656insGCTGCT ENST00000440970.1 - 2 617_618 c.186_187insAGCAGC c.(184-189)aggcgg>agAGCAGCgcgg p.62_63RR>RAAR SALL1_ENST00000251020.4_In_Frame_Ins_p.159_160RR>RAAR|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 159 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ccgccgccgccgctgctgctgc 0.629 7 32 --- --- --- --- G6PC3 92579 broad.mit.edu 37 17 42153269 42153270 + Frame_Shift_Ins INS - - G TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr17:42153269_42153270insG ENST00000269097.4 + 6 1130_1131 c.899_900insG c.(898-900)cggfs p.R300fs NM_138387.3 NP_612396.1 Q9BUM1 G6PC3_HUMAN glucose 6 phosphatase, catalytic, 3 300 gluconeogenesis|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 11 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.113) CTGGACTGGCTGGGCCACCCCC 0.619 9 125 --- --- --- --- AP003900.6 0 broad.mit.edu 37 21 11180762 11180762 + RNA DEL T T - rs146742149 TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr21:11180762delT ENST00000603265.1 + 0 231 aACTAACTTCTTTTTTTTTTT 0.348 4 7 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42262949 42262951 + In_Frame_Del DEL GCA GCA - TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx da19d7bc-9748-4cd4-bd54-4792894838f0 1f1bed30-9b6d-4a36-9a45-5ee31005bd34 g.chr22:42262949_42262951delGCA ENST00000361204.4 + 2 369_371 c.203_205delGCA c.(202-207)ggc>g p.GS68del NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 68 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 ggcagcagtggcagcagcagcag 0.567 7 79 --- --- --- ---