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 XPO5 57510 broad.mit.edu 37 6 43496612 43496612 + Missense_Mutation SNP G G T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr6:43496612G>T ENST00000265351.7 - 24 2939 c.2729C>A c.(2728-2730)gCc>gAc p.A910D POLR1C_ENST00000304004.3_Intron NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 910 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GGATACCAGGGCTTCATAGTG 0.478000 4 45 2.56e-06 2.61525e-06 1 1 0 SPTBN5 51332 broad.mit.edu 37 15 42180130 42180130 + Missense_Mutation SNP G G C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr15:42180130G>C ENST00000320955.6 - 5 882 c.655C>G c.(655-657)Cac>Gac p.H219D NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 219 Actin-binding.|CH 2. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TCACACCTGTGGGCATGGATG 0.602000 7 22 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42438416 42438416 + Silent SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr15:42438416G>A ENST00000397272.3 - 14 1540 c.1449C>T c.(1447-1449)gaC>gaT p.D483D PLA2G4F_ENST00000382396.4_Silent_p.D481D NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 481 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CCTCCTGTTGGTCAGACAGCT 0.612000 5 104 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235950608 235950608 + Missense_Mutation SNP T T C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:235950608T>C ENST00000389794.3 - 14 4928 c.4754A>G c.(4753-4755)aAt>aGt p.N1585S LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.N1585S Q99698 LYST_HUMAN lysosomal trafficking regulator 1585 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GAGGAAAATATTCTCCTGTGA 0.413000 17 343 0 0 1 0 0 SPRY3 10251 broad.mit.edu 37 X 155004315 155004315 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chrX:155004315G>A ENST00000302805.2 + 2 1213 c.782G>A c.(781-783)cGc>cAc p.R261H NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 261 Cys-rich. multicellular organismal development|regulation of signal transduction cytoplasm|membrane all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCAGGCTGCCGCTGCAAGAGG 0.572000 23 315 0 0 1 0 0 CYSLTR1 0 broad.mit.edu 37 X 77528954 77528954 + Missense_Mutation SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chrX:77528954C>T ENST00000373304.3 - 3 582 c.290G>A c.(289-291)cGc>cAc p.R97H NM_006639.2 NP_006630.1 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 97 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) GGTGCTGAGGCGGCACAAGAA 0.443000 16 73 0 0 1 0 0 ASB13 79754 broad.mit.edu 37 10 5693260 5693260 + Missense_Mutation SNP A A C rs139712171 TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr10:5693260A>C ENST00000357700.6 - 3 324 c.298T>G c.(298-300)Tgt>Ggt p.C100G ASB13_ENST00000479033.1_Intron NM_024701.3 NP_078977.2 Q8WXK3 ASB13_HUMAN ankyrin repeat and SOCS box containing 13 100 intracellular signal transduction protein binding NS(1)|endometrium(3)|lung(3)|ovary(1) 8 GBM - Glioblastoma multiforme(2;9.59e-09) AGCTTCACACACTCGATGCTG 0.632000 20 74 0 0 1 0 0 BAIAP3 8938 broad.mit.edu 37 16 1395342 1395342 + Nonsense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr16:1395342G>A ENST00000324385.5 + 22 2296 c.2138G>A c.(2137-2139)tGg>tAg p.W713* BAIAP3_ENST00000421665.2_Nonsense_Mutation_p.W642*|BAIAP3_ENST00000562208.1_Nonsense_Mutation_p.W655*|BAIAP3_ENST00000426824.3_Nonsense_Mutation_p.W678*|BAIAP3_ENST00000397489.1_Nonsense_Mutation_p.W695*|BAIAP3_ENST00000397488.2_Nonsense_Mutation_p.W695*|BAIAP3_ENST00000568887.1_Nonsense_Mutation_p.W650* NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 713 MHD1. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) CAGGCCAAGTGGAGGCTTCAG 0.682000 5 81 0 0 1 0 0 RIMKLA 284716 broad.mit.edu 37 1 42880615 42880615 + Silent SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:42880615C>T ENST00000431473.3 + 5 1275 c.1146C>T c.(1144-1146)aaC>aaT p.N382N NM_173642.3 NP_775913.2 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family member A 382 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 ACATTAACAACAGGATTGCTT 0.458000 12 133 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19523634 19523634 + Splice_Site SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:19523634C>T ENST00000375267.2 - 8 1022 c.e8+1 UBR4_ENST00000375254.3_Splice_Site|UBR4_ENST00000375217.2_Splice_Site|UBR4_ENST00000375226.2_Splice_Site Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TAACTTCTCACCTGCATACAG 0.428000 20 83 0 0 1 0 0 SLC6A13 6540 broad.mit.edu 37 12 330125 330125 + Missense_Mutation SNP A A T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr12:330125A>T ENST00000343164.4 - 15 1850 c.1798T>A c.(1798-1800)Tct>Act p.S600T SLC6A13_ENST00000445055.2_Missense_Mutation_p.S508T NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 600 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) TAGCAGTGAGACTCTAGCTCT 0.662000 6 48 0 0 1 0 0 SLC25A43 203427 broad.mit.edu 37 X 118540573 118540573 + Silent SNP A A T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chrX:118540573A>T ENST00000217909.7 + 2 770 c.426A>T c.(424-426)ccA>ccT p.P142P SLC25A43_ENST00000336249.7_Silent_p.P142P|SLC25A43_ENST00000488158.1_3'UTR NM_145305.2 NP_660348.2 Q8WUT9 S2543_HUMAN solute carrier family 25, member 43 142 transmembrane transport integral to membrane|mitochondrial inner membrane binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 9 TACTGGAACCATCGTACAGGG 0.488000 22 204 0 0 1 0 0 PANK4 55229 broad.mit.edu 37 1 2452693 2452693 + Missense_Mutation SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:2452693C>T ENST00000378466.3 - 3 281 c.269G>A c.(268-270)cGa>cAa p.R90Q PANK4_ENST00000435556.3_Missense_Mutation_p.R90Q NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 90 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GAAGTGCAGTCGAGCAGTGAT 0.502000 4 165 0 0 1 0 0 PLCH2 9651 broad.mit.edu 37 1 2436221 2436221 + Missense_Mutation SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:2436221C>T ENST00000419816.2 + 22 4094 c.3820C>T c.(3820-3822)Cgc>Tgc p.R1274C PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.R1238C|PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.R1274C O75038 PLCH2_HUMAN phospholipase C, eta 2 1274 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GGGCGGCTCCCGCAGACTGAG 0.687000 13 22 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 3 37 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7406572 7406572 + Silent SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr17:7406572G>A ENST00000322644.6 + 17 3288 c.2889G>A c.(2887-2889)cgG>cgA p.R963R NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 963 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GGGAGGATCGGGAGGTGCTCA 0.602000 6 125 0 0 1 0 0 RPL5 6125 broad.mit.edu 37 1 93301832 93301832 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:93301832G>A ENST00000370321.3 + 5 500 c.410G>A c.(409-411)gGt>gAt p.G137D NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 137 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) AGCATTGATGGTCAGCCAGGT 0.483000 5 139 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 5 96 0 0 1 0 0 HRH1 3269 broad.mit.edu 37 3 11301252 11301252 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr3:11301252G>A ENST00000397056.1 + 3 720 c.529G>A c.(529-531)Gag>Aag p.E177K HRH1_ENST00000431010.2_Missense_Mutation_p.E177K|HRH1_ENST00000438284.2_Missense_Mutation_p.E177K NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 177 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) GGTGCGCCGAGAGGACAAGTG 0.522000 10 240 0 0 1 0 0 CYLC2 1539 broad.mit.edu 37 9 105767734 105767734 + Missense_Mutation SNP A A T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr9:105767734A>T ENST00000374798.3 + 5 891 c.821A>T c.(820-822)aAg>aTg p.K274M CYLC2_ENST00000487798.1_Missense_Mutation_p.K274M NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 274 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) AAGAAAGATAAGAAGAAGCCC 0.393000 72 99 0 0 1 0 0 TMEM201 199953 broad.mit.edu 37 1 9661304 9661304 + Silent SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:9661304C>T ENST00000340305.5 + 5 757 c.748C>T c.(748-750)Ctg>Ttg p.L250L TMEM201_ENST00000377376.4_Silent_p.L250L|TMEM201_ENST00000340381.6_Silent_p.L250L NM_001010866.3 NP_001010866.1 Q5SNT2 TM201_HUMAN transmembrane protein 201 250 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) GCCCCTGGCCCTGCCACCTGG 0.697000 12 26 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716492 142716492 + Silent SNP A A G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chrX:142716492A>G ENST00000381779.4 - 2 2658 c.2433T>C c.(2431-2433)taT>taC p.Y811Y SLITRK4_ENST00000338017.4_Silent_p.Y811Y|SLITRK4_ENST00000356928.1_Silent_p.Y811Y NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 811 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TCAGTTCAAAATACTCACTCT 0.413000 5 242 0 0 1 0 0 SEC14L1 6397 broad.mit.edu 37 17 75205560 75205560 + Splice_Site SNP T T C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr17:75205560T>C ENST00000413679.2 + 14 1914 c.e14+2 SEC14L1_ENST00000430767.4_Splice_Site|SEC14L1_ENST00000392476.2_Splice_Site|SEC14L1_ENST00000443798.4_Splice_Site|SEC14L1_ENST00000436233.4_Splice_Site|SEC14L1_ENST00000591437.1_Splice_Site|SEC14L1_ENST00000431431.2_Splice_Site|SEC14L1_ENST00000585618.1_Splice_Site NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 CCACATGAGGTACGTCCTCCG 0.612000 10 36 0 0 1 0 0 LMBRD2 92255 broad.mit.edu 37 5 36124351 36124351 + Missense_Mutation SNP T T A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr5:36124351T>A ENST00000296603.4 - 7 1226 c.764A>T c.(763-765)aAt>aTt p.N255I NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 255 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GATGCTTTCATTCACTTTACG 0.274000 36 56 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113539732 113539732 + Missense_Mutation SNP G G T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr4:113539732G>T ENST00000505019.1 - 6 1591 c.1466C>A c.(1465-1467)tCt>tAt p.S489Y C4orf21_ENST00000309071.5_Missense_Mutation_p.S489Y|C4orf21_ENST00000445203.2_Missense_Mutation_p.S458Y NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 489 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) ATTATTACTAGATTCAATTTG 0.333000 44 183 5.78141e-17 6.03648e-17 1 1 0 FAM47E-STBD1 0 broad.mit.edu 37 4 77228080 77228080 + Missense_Mutation SNP A A C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr4:77228080A>C ENST00000237642.6 + 1 902 c.158A>C c.(157-159)cAt>cCt p.H53P FAM47E-STBD1_ENST00000539752.1_Intron|FAM47E_ENST00000515604.1_Intron NM_003943.4 NP_003934.1 CCGGGAGGCCATCAGAGTGGC 0.667000 OREG0016232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 19 0 0 1 0 0 CYTH4 27128 broad.mit.edu 37 22 37708164 37708164 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr22:37708164G>A ENST00000248901.6 + 12 1248 c.1061G>A c.(1060-1062)cGc>cAc p.R354H NM_013385.3 NP_037517.1 Q9UIA0 CYH4_HUMAN cytohesin 4 354 PH. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 GAATCGTACCGCATCTCAGCC 0.622000 50 61 0 0 1 0 0 MTPAP 55149 broad.mit.edu 37 10 30602556 30602556 + Silent SNP T T C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr10:30602556T>C ENST00000358107.4 - 10 2120 c.2121A>G c.(2119-2121)acA>acG p.T707T MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Silent_p.T577T Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 577 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 GAGTACTAATTGTTCTCTTCC 0.348000 6 406 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 830602 830602 + Silent SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr16:830602C>T ENST00000293892.3 - 3 398 c.399G>A c.(397-399)gcG>gcA p.A133A MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 CGTGCAGGCACGCATGTGTAG 0.557000 7 466 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81598290 81598290 + Splice_Site SNP C C G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr7:81598290C>G ENST00000356860.3 - 29 2647 c.e29-1 CACNA2D1_ENST00000356253.5_Splice_Site|CACNA2D1_ENST00000535308.1_Intron NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GGTCCACTTTCtaaaaaaaaa 0.284000 5 214 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49097830 49097830 + Missense_Mutation SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr15:49097830C>T ENST00000380950.2 - 2 204 c.17G>A c.(16-18)gGc>gAc p.G6D CEP152_ENST00000399334.3_Missense_Mutation_p.G6D|CEP152_ENST00000325747.5_Missense_Mutation_p.G6D NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 6 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TGCCACACTGCCAAAGTCTAA 0.398000 7 144 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61835771 61835771 + Missense_Mutation SNP C C T rs143606308 TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr10:61835771C>T ENST00000280772.1 - 37 5059 c.4868G>A c.(4867-4869)cGa>cAa p.R1623Q ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1623 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGGAGAGGTTCGAGAGGAAAA 0.478000 89 111 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 5 87 0 0 1 0 0 C1orf115 79762 broad.mit.edu 37 1 220870064 220870064 + Silent SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:220870064C>T ENST00000294889.5 + 2 978 c.420C>T c.(418-420)ttC>ttT p.F140F NM_024709.4 NP_078985.3 Q9H7X2 CA115_HUMAN chromosome 1 open reading frame 115 140 integral to membrane large_intestine(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0273) TGGTATCCTTCGTGCGCTAAT 0.592000 16 156 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100868816 100868816 + Silent SNP C C A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr6:100868816C>A ENST00000369208.3 - 10 1799 c.1017G>T c.(1015-1017)ggG>ggT p.G339G SIM1_ENST00000262901.4_Silent_p.G339G P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 339 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AGAGCTGCAGCCCTTTGTATT 0.502000 3 50 6.4e-05 6.44539e-05 1 1 0 PLS3 5358 broad.mit.edu 37 X 114880830 114880830 + Missense_Mutation SNP G G C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chrX:114880830G>C ENST00000420625.2 + 13 1620 c.1486G>C c.(1486-1488)Gct>Cct p.A496P PLS3_ENST00000355899.3_Missense_Mutation_p.A496P|PLS3_ENST00000289290.3_Missense_Mutation_p.A460P|PLS3_ENST00000543070.1_Missense_Mutation_p.A90P|PLS3_ENST00000539310.1_Missense_Mutation_p.A451P|PLS3_ENST00000537301.1_Missense_Mutation_p.A483P NM_001136025.3|NM_001172335.1 NP_001129497.1|NP_001165806.1 P13797 PLST_HUMAN plastin 3 496 Actin-binding 2.|CH 3. cytoplasm actin binding|calcium ion binding NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11) 26 CCTGACTTTAGCTTTAGTCTG 0.413000 4 260 0 0 1 0 0 PABPC1L 80336 broad.mit.edu 37 20 43561000 43561000 + Silent SNP A A G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr20:43561000A>G ENST00000255136.3 + 9 1339 c.1257A>G c.(1255-1257)gcA>gcG p.A419A PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_5'UTR|PABPC1L_ENST00000372824.1_5'UTR|PABPC1L_ENST00000217073.2_Silent_p.A419A|PABPC1L_ENST00000537323.1_Intron NM_001124756.1 NP_001118228.1 Q4VXU2 PAP1L_HUMAN poly(A) binding protein, cytoplasmic 1-like 419 Pro-rich. nucleotide binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 CCCAGGCTGCATACTATGGCT 0.622000 21 99 0 0 1 0 0 PNMA5 114824 broad.mit.edu 37 X 152159711 152159711 + Silent SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chrX:152159711G>A ENST00000439251.1 - 2 870 c.432C>T c.(430-432)tcC>tcT p.S144S PNMA5_ENST00000452693.1_Silent_p.S144S|PNMA5_ENST00000361887.5_Silent_p.S144S|PNMA5_ENST00000535214.1_Silent_p.S144S NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 144 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) CTAAAGGTGGGGATCTAACTT 0.537000 33 385 0 0 1 0 0 FAM47E-STBD1 0 broad.mit.edu 37 4 77228079 77228079 + Missense_Mutation SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr4:77228079C>T ENST00000237642.6 + 1 901 c.157C>T c.(157-159)Cat>Tat p.H53Y FAM47E-STBD1_ENST00000539752.1_Intron|FAM47E_ENST00000515604.1_Intron NM_003943.4 NP_003934.1 TCCGGGAGGCCATCAGAGTGG 0.667000 OREG0016232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 19 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100813689 100813689 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr12:100813689G>A ENST00000323346.5 + 12 1835 c.1522G>A c.(1522-1524)Gag>Aag p.E508K SLC17A8_ENST00000392989.3_Missense_Mutation_p.E458K|SLC17A8_ENST00000552697.1_3'UTR NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 508 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 GGAGAAACAGGAGTGGGCTGA 0.483000 4 107 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108384958 108384958 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr11:108384958G>A ENST00000265843.4 - 6 1386 c.1276C>T c.(1276-1278)Cgt>Tgt p.R426C EXPH5_ENST00000443411.1_Missense_Mutation_p.R238C|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Missense_Mutation_p.R419C|EXPH5_ENST00000428840.1_Missense_Mutation_p.R350C NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 426 intracellular protein transport Rab GTPase binding p.R426C(1) breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AAACTAACACGTTGGTAAACA 0.413000 8 377 0 0 1 0 0 SULT1A2 6799 broad.mit.edu 37 16 28606983 28606983 + Silent SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr16:28606983C>T ENST00000533150.1 - 2 1278 c.162G>A c.(160-162)gtG>gtA p.V54V SULT1A2_ENST00000395630.1_Silent_p.V54V|SULT1A2_ENST00000335715.4_Silent_p.V54V P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 54 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 GAATCTGGCTCACCCAGGTGG 0.607000 12 163 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61832503 61832503 + Silent SNP T T C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr10:61832503T>C ENST00000280772.1 - 37 8327 c.8136A>G c.(8134-8136)caA>caG p.Q2712Q ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2712 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGAGTTTAGATTGTTTGAGCT 0.453000 5 387 0 0 1 0 0 IHH 3549 broad.mit.edu 37 2 219920186 219920186 + Missense_Mutation SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr2:219920186C>T ENST00000295731.5 - 3 978 c.979G>A c.(979-981)Ggg>Agg p.G327R NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog 327 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCGTAGGCCCCGAGGGCCACG 0.672000 4 42 0 0 1 0 0 VDR 0 broad.mit.edu 37 12 48272841 48272841 + Missense_Mutation SNP T T C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr12:48272841T>C ENST00000229022.3 - 4 337 c.56A>G c.(55-57)aAc>aGc p.N19S VDR_ENST00000550325.1_Missense_Mutation_p.N69S|VDR_ENST00000549336.1_Missense_Mutation_p.N19S|VDR_ENST00000395324.2_Missense_Mutation_p.N19S|VDR_ENST00000535672.1_5'UTR NM_001017535.1 NP_001017535.1 P11473 VDR_HUMAN vitamin D (1,25- dihydroxyvitamin D3) receptor 19 decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2) 22 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CCGGGGCACGTTCCGGTCAAA 0.587000 13 106 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 73 110 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5782302 5782302 + Silent SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr10:5782302G>A ENST00000328090.5 + 13 2794 c.2169G>A c.(2167-2169)ccG>ccA p.P723P RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 723 ATCGACCACCGTCTGCCCGTG 0.498000 12 202 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108214765 108214765 + Nonsense_Mutation SNP A A T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr6:108214765A>T ENST00000369002.4 - 16 1774 c.1595T>A c.(1594-1596)tTa>tAa p.L532* NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 532 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding p.L532*(2) endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TTTTTTTTTTAAAGGTTTCTT 0.368000 8 240 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791758 42791758 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr19:42791758G>A ENST00000572681.2 + 6 3439 c.3371G>A c.(3370-3372)cGg>cAg p.R1124Q CIC_ENST00000160740.3_Missense_Mutation_p.R215Q|CIC_ENST00000575354.2_Missense_Mutation_p.R215Q Q96RK0 CIC_HUMAN capicua transcriptional repressor 215 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R215Q(2) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) AAGCGGCACCGGGCCCTGGTC 0.612000 """Mis, F, S""" oligodendroglioma 68 6 0 0 1 0 0 CORO1A 11151 broad.mit.edu 37 16 30199764 30199764 + Missense_Mutation SNP G G A rs61736366 TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr16:30199764G>A ENST00000219150.5 + 10 1453 c.1148G>A c.(1147-1149)cGg>cAg p.R383Q CORO1A_ENST00000570045.1_Missense_Mutation_p.R383Q|CORO1A_ENST00000565497.1_Intron NM_001193333.2|NM_007074.3 NP_001180262.1|NP_009005.1 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 383 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 9 CTGGGGGGTCGGGATGCTGGG 0.697000 23 193 0 0 1 0 0 THSD1 55901 broad.mit.edu 37 13 52972267 52972267 + Missense_Mutation SNP T T C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr13:52972267T>C ENST00000349258.4 - 3 665 c.121A>G c.(121-123)Aca>Gca p.T41A THSD1_ENST00000258613.4_Missense_Mutation_p.T41A|THSD1_ENST00000544466.1_Intron NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 41 extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) ACATACACTGTGTCGTTGCTT 0.438000 27 216 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36793054 36793054 + Silent SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr8:36793054C>T ENST00000399881.3 + 27 3103 c.3066C>T c.(3064-3066)gcC>gcT p.A1022A NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 1022 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CCCGGCCAGCCAATGAGTTCA 0.458000 9 245 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69688649 69688649 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr8:69688649G>A ENST00000337103.4 + 10 2679 c.1087G>A c.(1087-1089)Gga>Aga p.G363R C8orf34_ENST00000539993.1_Missense_Mutation_p.G388R|C8orf34_ENST00000518698.1_Missense_Mutation_p.G474R|C8orf34_ENST00000325233.3_Missense_Mutation_p.G132R Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 388 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) AGCCTCCAGTGGAGTAGGACA 0.408000 5 167 0 0 1 0 0 HMX1 3166 broad.mit.edu 37 4 8869848 8869848 + Silent SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr4:8869848C>T ENST00000400677.3 - 2 820 c.618G>A c.(616-618)acG>acA p.T206T HMX1_ENST00000506970.2_Intron NM_018942.2 NP_061815.2 Q9NP08 HMX1_HUMAN H6 family homeobox 1 206 multicellular organismal development|negative regulation of transcription, DNA-dependent sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity AGACTGTGCGCGTCTTCTTCT 0.726000 2 1 0 0 1 0 0 OR13C4 138804 broad.mit.edu 37 9 107288802 107288802 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr9:107288802G>A ENST00000277216.3 - 1 688 c.689C>T c.(688-690)tCg>tTg p.S230L NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S230*(1) breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TCCTGTGGCCGAGTTCGTTCG 0.418000 5 266 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46391072 46391072 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr11:46391072G>A ENST00000454345.1 + 6 1162 c.1037G>A c.(1036-1038)cGt>cAt p.R346H DGKZ_ENST00000318201.8_Missense_Mutation_p.R158H|DGKZ_ENST00000395574.3_Missense_Mutation_p.R124H|DGKZ_ENST00000421244.2_Missense_Mutation_p.R158H|DGKZ_ENST00000456247.2_Missense_Mutation_p.R157H|DGKZ_ENST00000343674.6_Missense_Mutation_p.R174H|DGKZ_ENST00000532868.2_Missense_Mutation_p.R162H|DGKZ_ENST00000528615.1_5'UTR|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Missense_Mutation_p.R158H NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 346 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CCGTCCTTCCGTGAATCAGGC 0.572000 OREG0020942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 199 0 0 1 0 0 ABRACL 58527 broad.mit.edu 37 6 139363876 139363876 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr6:139363876G>A ENST00000367660.3 + 3 282 c.82G>A c.(82-84)Gtg>Atg p.V28M NM_021243.2 NP_067066.1 Q9P1F3 CF115_HUMAN ABRA C-terminal like 28 AAAGTTAAGCGTGAAATTTGG 0.368000 8 349 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43822061 43822061 + Missense_Mutation SNP A A G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr15:43822061A>G ENST00000382031.1 + 6 8994 c.8963A>G c.(8962-8964)aAt>aGt p.N2988S MAP1A_ENST00000399453.1_Missense_Mutation_p.N2750S|MAP1A_ENST00000300231.5_Missense_Mutation_p.N2750S P78559 MAP1A_HUMAN microtubule-associated protein 1A 2750 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TGGGGGGAGAATCTTCAGGTG 0.557000 5 69 0 0 1 0 0 KRTAP5-6 440023 broad.mit.edu 37 11 1718511 1718511 + Silent SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr11:1718511C>T ENST00000382160.1 + 1 87 c.36C>T c.(34-36)tcC>tcT p.S12S NM_001012416.1 NP_001012416.1 Q6L8G9 KRA56_HUMAN keratin associated protein 5-6 12 keratin filament endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCTGTGGCTCCGGCTGTGGGG 0.642000 21 360 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183676100 183676100 + Missense_Mutation SNP A A G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr4:183676100A>G ENST00000511685.1 + 22 4703 c.4580A>G c.(4579-4581)aAt>aGt p.N1527S TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.N1527S teneurin transmembrane protein 3 TTTGACATCAATGGTACTCAC 0.383000 6 113 0 0 1 0 0 RFWD3 55159 broad.mit.edu 37 16 74695259 74695259 + Missense_Mutation SNP T T C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr16:74695259T>C ENST00000361070.4 - 2 186 c.89A>G c.(88-90)cAa>cGa p.Q30R RFWD3_ENST00000571750.1_Missense_Mutation_p.Q30R NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 30 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 TGGTCCCCCTTGGCTGCTGGC 0.567000 13 325 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53644041 53644041 + Missense_Mutation SNP C C A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chrX:53644041C>A ENST00000342160.3 - 20 2304 c.1847G>T c.(1846-1848)cGa>cTa p.R616L HUWE1_ENST00000218328.8_Missense_Mutation_p.R616L|HUWE1_ENST00000262854.6_Missense_Mutation_p.R616L Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 616 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CTGAAGACCTCGGGCATTCAA 0.478000 26 69 4.72057e-08 4.89286e-08 1 1 0 OR52I1 390037 broad.mit.edu 37 11 4615307 4615307 + Silent SNP T T C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr11:4615307T>C ENST00000450052.2 + 2 111 c.111T>C c.(109-111)ccT>ccC p.P37P OR52I1_ENST00000530443.2_Silent_p.P13P Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGAAACCCCTGCCTCCTTCC 0.473000 68 330 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103052532 103052532 + Missense_Mutation SNP A A T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr11:103052532A>T ENST00000375735.2 + 40 6538 c.6394A>T c.(6394-6396)Aat>Tat p.N2132Y DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2132Y NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2132 AAA 2 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTGGTTGAGGAATCAGCCTGC 0.289000 7 14 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22064961 22064961 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr8:22064961G>A ENST00000306385.5 + 18 3177 c.2507G>A c.(2506-2508)cGc>cAc p.R836H BMP1_ENST00000354870.5_3'UTR NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 836 CUB 4. 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) ACAGGCAGCCGCATGTTCCTG 0.642000 4 152 0 0 1 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281360 49281360 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr13:49281360G>A ENST00000282018.3 + 1 410 c.407G>A c.(406-408)cGt>cAt p.R136H NM_020377.2 NP_065110.1 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 136 immune response integral to membrane|plasma membrane p.R136H(1) endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) AGTGTTGTGCGTTTCCTGGCA 0.473000 5 389 0 0 1 0 0 SCNN1B 0 broad.mit.edu 37 16 23392080 23392080 + Silent SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr16:23392080G>A ENST00000343070.2 + 13 2057 c.1881G>A c.(1879-1881)ccG>ccA p.P627P SCNN1B_ENST00000307331.5_Silent_p.P672P|SCNN1B_ENST00000568923.1_Silent_p.P600P|SCNN1B_ENST00000568085.1_Silent_p.P591P NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 627 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) GTCTGCAGCCGCTGGACGTCA 0.677000 14 225 0 0 1 0 0 CYP3A5 0 broad.mit.edu 37 7 99250313 99250313 + Silent SNP T T C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr7:99250313T>C ENST00000343703.5 - 12 1472 c.1086A>G c.(1084-1086)agA>agG p.R362R CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Silent_p.R372R cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) TCCTCTCAAGTCTAATAGCAA 0.443000 18 151 0 0 1 0 0 TBX20 57057 broad.mit.edu 37 7 35280566 35280566 + Silent SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr7:35280566C>T ENST00000408931.3 - 5 1264 c.738G>A c.(736-738)ctG>ctA p.L246L NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 246 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 CTTCAGACTTCAGGTTGAGCA 0.393000 4 118 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193019013 193019013 + Missense_Mutation SNP A A G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr3:193019013A>G ENST00000342358.4 - 24 2879 c.2762T>C c.(2761-2763)tTa>tCa p.L921S ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 921 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ATAGAGCAGTAATGCACTGAT 0.348000 21 291 0 0 1 0 0 PCCB 5096 broad.mit.edu 37 3 136046565 136046565 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr3:136046565G>A ENST00000471595.1 + 13 1407 c.1389G>A c.(1387-1389)atG>atA p.M463I PCCB_ENST00000462637.1_Missense_Mutation_p.M440I|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000482086.1_Missense_Mutation_p.M347I|PCCB_ENST00000251654.4_Missense_Mutation_p.M463I|PCCB_ENST00000468777.1_Missense_Mutation_p.M494I|PCCB_ENST00000490504.1_Missense_Mutation_p.M406I|PCCB_ENST00000483687.1_Missense_Mutation_p.M444I|PCCB_ENST00000466072.1_Missense_Mutation_p.M483I|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000469217.1_Missense_Mutation_p.M483I P05166 PCCB_HUMAN propionyl CoA carboxylase, beta polypeptide 463 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 25 Biotin(DB00121)|L-Valine(DB00161) TTGCAGTCATGGGAGCAAAGG 0.522000 29 43 0 0 1 0 0 IGHV3-16 0 broad.mit.edu 37 14 106622275 106622275 + RNA SNP A A G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr14:106622275A>G ENST00000390604.2 - 0 120 CACTCACTCAATATCCTTAGT 0.443000 8 267 0 0 1 0 0 IKZF5 64376 broad.mit.edu 37 10 124758013 124758013 + Silent SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr10:124758013C>T ENST00000368886.5 - 3 449 c.129G>A c.(127-129)caG>caA p.Q43Q IKZF5_ENST00000479103.1_5'UTR NM_001271840.1 NP_001258769.1 Q9H5V7 IKZF5_HUMAN IKAROS family zinc finger 5 (Pegasus) 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|lung(3)|prostate(1) 6 all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222) Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754) GTCTACCTCCCTGAAGAGCCT 0.413000 4 152 0 0 1 0 0 SERPINB9 5272 broad.mit.edu 37 6 2890403 2890403 + Silent SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr6:2890403C>T ENST00000380698.4 - 7 1214 c.1125G>A c.(1123-1125)tcG>tcA p.S375S NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 375 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) CCCTTTATGGCGATGAGAACC 0.542000 47 42 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073095 17073095 + Silent SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr22:17073095G>A ENST00000359963.3 - 1 605 c.346C>T c.(346-348)Ctg>Ttg p.L116L NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 116 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GCCTGTTCCAGCAAGGCTTCC 0.662000 30 47 0 0 1 0 0 GPRASP2 114928 broad.mit.edu 37 X 101972002 101972002 + Missense_Mutation SNP G G C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chrX:101972002G>C ENST00000543253.1 + 5 3124 c.2205G>C c.(2203-2205)aaG>aaC p.K735N GPRASP2_ENST00000535209.1_Missense_Mutation_p.K735N|GPRASP2_ENST00000332262.5_Missense_Mutation_p.K735N NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 CGAGAACGAAGTTTCACGTTC 0.393000 27 297 0 0 1 0 0 CDC7 8317 broad.mit.edu 37 1 91989862 91989862 + Nonsense_Mutation SNP T T G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:91989862T>G ENST00000428239.1 + 12 1854 c.1595T>G c.(1594-1596)tTa>tGa p.L532* CDC7_ENST00000234626.6_Nonsense_Mutation_p.L532*|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L504* NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 532 Protein kinase. cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) aATACCAATTTAGAAGGCTGG 0.388000 15 212 0 0 1 0 0 GGCX 2677 broad.mit.edu 37 2 85777115 85777115 + Missense_Mutation SNP T T G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr2:85777115T>G ENST00000233838.3 - 15 2299 c.2219A>C c.(2218-2220)gAt>gCt p.D740A GGCX_ENST00000430215.3_Missense_Mutation_p.D683A NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase 740 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) ATGTGAAGAATCCGTGTTTGA 0.507000 41 65 0 0 1 0 0 RYBP 23429 broad.mit.edu 37 3 72427764 72427764 + Missense_Mutation SNP C C G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr3:72427764C>G ENST00000477973.1 - 4 723 c.724G>C c.(724-726)Gag>Cag p.E242Q NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein 0 apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) GTGCAGTGCTCCTGTCCACGT 0.483000 6 147 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48790318 48790318 + Nonsense_Mutation SNP A A T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr8:48790318A>T ENST00000314191.2 - 41 5383 c.5327T>A c.(5326-5328)tTa>tAa p.L1776* PRKDC_ENST00000338368.3_Nonsense_Mutation_p.L1776*|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1777 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GGATTGAAATAATTCTTCCAT 0.413000 Non-homologous end-joining 8 238 0 0 1 0 0 SLAMF1 6504 broad.mit.edu 37 1 160604539 160604539 + Silent SNP G G T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:160604539G>T ENST00000302035.6 - 3 913 c.564C>A c.(562-564)gcC>gcA p.A188A SLAMF1_ENST00000538290.1_Silent_p.A188A|SLAMF1_ENST00000235739.5_Silent_p.A188A|SLAMF1_ENST00000355199.3_Silent_p.A188A NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 188 Ig-like C2-type. interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GGGAGCTGTTGGCTGGGTTCA 0.587000 11 196 3.86212e-05 3.91729e-05 1 1 0 RNGTT 8732 broad.mit.edu 37 6 89600293 89600293 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr6:89600293G>A ENST00000369485.4 - 8 1003 c.817C>T c.(817-819)Cct>Tct p.P273S RNGTT_ENST00000369475.3_Missense_Mutation_p.P273S|RNGTT_ENST00000265607.6_Missense_Mutation_p.P273S|RNGTT_ENST00000538899.1_Missense_Mutation_p.P213S NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 273 GTase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) ATGGAAACAGGCTGTGCTCCA 0.383000 44 80 0 0 1 0 0 SLC52A3 113278 broad.mit.edu 37 20 745940 745940 + Missense_Mutation SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr20:745940C>T ENST00000381944.3 - 2 720 c.479G>A c.(478-480)gGc>gAc p.G160D SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Missense_Mutation_p.G160D Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 160 sensory perception of sound integral to plasma membrane riboflavin transporter activity GAGACCGGAGCCCTGGGCAAG 0.602000 35 95 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48349704 48349704 + Missense_Mutation SNP G G C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr7:48349704G>C ENST00000435803.1 + 24 9506 c.9482G>C c.(9481-9483)aGt>aCt p.S3161T NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3161 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 GTGTTGCTGAGTCGAAACTTG 0.512000 11 458 0 0 1 0 0 CRIP2 1397 broad.mit.edu 37 14 105945493 105945493 + Nonsense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr14:105945493G>A ENST00000329146.4 + 6 1151 c.438G>A c.(436-438)tgG>tgA p.W146* CRIP2_ENST00000483017.3_Nonsense_Mutation_p.W220*|CRIP2_ENST00000548989.1_3'UTR NM_001312.2 NP_001303.1 P52943 CRIP2_HUMAN cysteine-rich protein 2 146 LIM zinc-binding 2. zinc ion binding lung(2) 2 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.235) GCAAGGATTGGCACCGGCCCT 0.766000 3 35 0 0 1 0 0 SERP2 387923 broad.mit.edu 37 13 44953804 44953804 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr13:44953804G>A ENST00000379179.3 + 2 296 c.112G>A c.(112-114)Gga>Aga p.G38R NM_001010897.1 NP_001010897.1 Q8N6R1 SERP2_HUMAN stress-associated endoplasmic reticulum protein family member 2 38 protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane large_intestine(1) 1 all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123) ATATCCTGTGGGACCATGGCT 0.413000 17 175 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27279865 27279865 + Silent SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr8:27279865G>A ENST00000397501.1 + 10 1324 c.516G>A c.(514-516)gaG>gaA p.E172E PTK2B_ENST00000338238.4_Silent_p.E172E|PTK2B_ENST00000544172.1_Silent_p.E172E|PTK2B_ENST00000346049.5_Silent_p.E172E|PTK2B_ENST00000517339.1_Silent_p.E172E|PTK2B_ENST00000420218.2_Silent_p.E172E NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 172 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) AGGTCAGCGAGGGCATGGCCC 0.652000 3 69 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179615659 179615659 + Missense_Mutation SNP A A G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr2:179615659A>G ENST00000360870.5 - 46 11690 c.11468T>C c.(11467-11469)tTa>tCa p.L3823S TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9657 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) TTCACCATATAAATGGTCTTT 0.363000 47 212 0 0 1 0 0 PDE6A 5145 broad.mit.edu 37 5 149323960 149323960 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr5:149323960G>A ENST00000255266.5 - 1 396 c.277C>T c.(277-279)Cgc>Tgc p.R93C NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 93 GAF 1. cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AGGCTCATGCGGTCTGCCTGC 0.517000 27 101 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121414352 121414352 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr11:121414352G>A ENST00000260197.7 + 13 1910 c.1781G>A c.(1780-1782)aGc>aAc p.S594N SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 594 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GGGGAGAAGAGCACTGTCTTC 0.517000 28 274 0 0 1 0 0 TNNI3K 51086 broad.mit.edu 37 1 74954885 74954885 + Missense_Mutation SNP T T A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:74954885T>A ENST00000370891.2 + 24 2453 c.2437T>A c.(2437-2439)Ttt>Att p.F813I FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.F813I|LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_Missense_Mutation_p.F712I NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 AAGACCCGAATTTTCTGAAGT 0.348000 10 70 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109109230 109109230 + Missense_Mutation SNP T T A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr2:109109230T>A ENST00000309863.6 + 19 5145 c.4431T>A c.(4429-4431)aaT>aaA p.N1477K NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 1477 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 AGCTTAAGAATGAACCGACCA 0.388000 5 80 0 0 1 0 0 RHOBTB3 22836 broad.mit.edu 37 5 95088046 95088046 + Missense_Mutation SNP A A C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr5:95088046A>C ENST00000379982.3 + 5 1182 c.674A>C c.(673-675)gAa>gCa p.E225A GLRX_ENST00000508780.1_Intron NM_014899.3 NP_055714.3 O94955 RHBT3_HUMAN Rho-related BTB domain containing 3 225 retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) CCTCAACTTGAACAACCAGGT 0.348000 6 206 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46656908 46656908 + Missense_Mutation SNP A A G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr6:46656908A>G ENST00000544460.1 + 1 1297 c.1043A>G c.(1042-1044)tAt>tGt p.Y348C TDRD6_ENST00000316081.6_Missense_Mutation_p.Y348C NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 348 Tudor 2. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) CATGTGGACTATGGAAGGAAG 0.532000 7 125 0 0 1 0 0 SERPIND1 3053 broad.mit.edu 37 22 21134208 21134208 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr22:21134208G>A ENST00000215727.5 + 2 891 c.608G>A c.(607-609)cGt>cAt p.R203H SERPIND1_ENST00000406799.1_Missense_Mutation_p.R203H|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 203 Glycosaminoglycan-binding site. blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) AATCTCTTCCGTAAGCTGACT 0.433000 4 205 0 0 1 0 0 CYP7A1 1581 broad.mit.edu 37 8 59404091 59404091 + Missense_Mutation SNP C C A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr8:59404091C>A ENST00000301645.3 - 6 1595 c.1458G>T c.(1456-1458)ttG>ttT p.L486F NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 486 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) GCAAAATGCCCAAGCCTGCCC 0.383000 Neonatal Giant Cell Hepatitis 22 106 8.10497e-08 8.3399e-08 1 1 0 EIF2D 1939 broad.mit.edu 37 1 206772892 206772892 + Missense_Mutation SNP T T C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:206772892T>C ENST00000271764.2 - 10 1335 c.1127A>G c.(1126-1128)tAt>tGt p.Y376C EIF2D_ENST00000367114.3_Missense_Mutation_p.Y252C NM_006893.2 NP_008824.2 P41214 EIF2D_HUMAN eukaryotic translation initiation factor 2D 376 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 TGGAGGGTGATAGGGCTGTTC 0.532000 6 159 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39846201 39846201 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr6:39846201G>A ENST00000538976.1 + 13 1564 c.1382G>A c.(1381-1383)cGt>cAt p.R461H DAAM2_ENST00000398904.2_Missense_Mutation_p.R461H|DAAM2_ENST00000274867.4_Missense_Mutation_p.R461H NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 461 actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) CTTGTGAGCCGTCTGGAGAGG 0.547000 7 15 0 0 1 0 0 ZNF788 388507 broad.mit.edu 37 19 12221205 12221205 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr19:12221205G>A ENST00000430298.2 + 2 294 c.89G>A c.(88-90)cGa>cAa p.R30Q ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000596883.1_Missense_Mutation_p.R50Q|ZNF788_ENST00000339302.4_5'UTR zinc finger family member 788 endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 2 AATCTCTACCGAGAAGTGATG 0.458000 17 89 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27442064 27442064 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr17:27442064G>A ENST00000527372.1 - 14 2552 c.2372C>T c.(2371-2373)cCg>cTg p.P791L MYO18A_ENST00000533112.1_Missense_Mutation_p.P791L|MYO18A_ENST00000354329.4_Missense_Mutation_p.P791L|MYO18A_ENST00000531253.1_Missense_Mutation_p.P791L NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 791 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CTGGAAGCCCGGGGTGTCGAC 0.637000 6 64 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10363351 10363351 + Missense_Mutation SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr17:10363351C>T ENST00000255381.2 - 14 1444 c.1334G>A c.(1333-1335)cGc>cAc p.R445H CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 445 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CTGGTTGATGCGGGTGACCAT 0.478000 6 416 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900377 151900377 + Missense_Mutation SNP T T A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chrX:151900377T>A ENST00000393900.3 - 3 777 c.424A>T c.(424-426)Aat>Tat p.N142Y MAGEA12_ENST00000357916.4_Missense_Mutation_p.N142Y|MAGEA12_ENST00000393869.3_Missense_Mutation_p.N142Y|CSAG4_ENST00000361201.4_RNA NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 142 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TCCTGGAAATTTCTGATGACA 0.507000 5 457 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150770028 150770028 + Translation_Start_Site SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chrX:150770028G>A ENST00000370357.4 + 2 248 c.3G>A c.(1-3)atG>atA p.M1I NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 1 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) AATAATGAATGAAGATGAGAG 0.408000 7 199 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176011568 176011568 + Silent SNP G G A rs147485475 TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr5:176011568G>A ENST00000510636.1 + 19 2560 c.2286G>A c.(2284-2286)ccG>ccA p.P762P CDHR2_ENST00000506348.1_Silent_p.P762P|CDHR2_ENST00000261944.5_Silent_p.P762P NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 762 Cadherin 7. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GGCTGCCCCCGGACGTGAGCC 0.622000 5 237 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37734844 37734844 + Silent SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr8:37734844C>T ENST00000330843.4 - 2 609 c.597G>A c.(595-597)tcG>tcA p.S199S RAB11FIP1_ENST00000287263.4_Silent_p.S199S|RAB11FIP1_ENST00000524118.1_Silent_p.S51S|RAB11FIP1_ENST00000522727.1_Silent_p.S51S NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 199 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CACTGTCGACCGAAGGTGTCG 0.468000 11 406 0 0 1 0 0 ACTR2 10097 broad.mit.edu 37 2 65467018 65467018 + Silent SNP T T C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr2:65467018T>C ENST00000260641.5 + 2 238 c.81T>C c.(79-81)ttT>ttC p.F27F ACTR2_ENST00000377982.4_Silent_p.F27F|ACTR2_ENST00000542850.1_5'UTR|ACTR2_ENST00000476840.1_3'UTR NM_005722.3 NP_005713.1 P61160 ARP2_HUMAN ARP2 actin-related protein 2 homolog (yeast) 27 cellular component movement Arp2/3 protein complex|cell projection|cytoplasm actin binding|ATP binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 12 GCTCTAACTTTCCAGAACACA 0.343000 23 208 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 69 0 0 1 0 0 IGHV3-9 0 broad.mit.edu 37 14 106552458 106552458 + RNA SNP C C G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr14:106552458C>G ENST00000390600.2 - 0 260 AGGCCCTTCCCTGGAGCTTGC 0.562000 4 264 0 0 1 0 0 CDCA7 83879 broad.mit.edu 37 2 174231959 174231959 + Missense_Mutation SNP C C G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr2:174231959C>G ENST00000306721.3 + 9 1370 c.1267C>G c.(1267-1269)Ctt>Gtt p.L423V CDCA7_ENST00000347703.3_Missense_Mutation_p.L344V|CDCA7_ENST00000410101.3_Missense_Mutation_p.L379V|CDCA7_ENST00000392567.2_Missense_Mutation_p.L294V|CDCA7_ENST00000410019.3_Missense_Mutation_p.L302V NM_031942.4 NP_114148.3 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 344 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) GACTGGGGTCCTTGTGTATTT 0.468000 5 231 0 0 1 0 0 OR51T1 401665 broad.mit.edu 37 11 4904034 4904034 + Missense_Mutation SNP G G A rs151076376 byFrequency TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr11:4904034G>A ENST00000380378.1 + 1 986 c.986G>A c.(985-987)cGc>cAc p.R329H MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.R302H NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R302L(1)|p.R329L(1) NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AAGACAATCCGCCAGGCTATG 0.483000 11 189 0 0 1 0 0 CCDC142 84865 broad.mit.edu 37 2 74709771 74709771 + Missense_Mutation SNP T T G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr2:74709771T>G ENST00000393965.3 - 1 590 c.194A>C c.(193-195)gAg>gCg p.E65A CCDC142_ENST00000290418.4_Missense_Mutation_p.E65A|CCDC142_ENST00000471713.1_Intron NM_032779.3 NP_116168.3 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 65 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 16 CTCGTAGTCCTCGCTCACATC 0.716000 12 45 0 0 1 0 0 MLF1 4291 broad.mit.edu 37 3 158314692 158314692 + Silent SNP G G C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr3:158314692G>C ENST00000359117.5 + 3 398 c.162G>C c.(160-162)gtG>gtC p.V54V MLF1_ENST00000482628.1_Silent_p.V54V|MLF1_ENST00000469452.1_Silent_p.V54V|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000471745.1_Silent_p.V69V|MLF1_ENST00000484955.1_Silent_p.V54V|MLF1_ENST00000478894.2_Silent_p.V69V|MLF1_ENST00000392822.3_Silent_p.V110V|MLF1_ENST00000355893.5_Silent_p.V79V NM_001130156.2 NP_001123628.1 P58340 MLF1_HUMAN myeloid leukemia factor 1 79 Interaction with COPS3. cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding large_intestine(3) 3 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) ACCAAATGGTGTCAAATATGA 0.313000 T NPM1 AML 3 72 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637146 248637146 + Silent SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:248637146C>T ENST00000359594.2 + 1 520 c.495C>T c.(493-495)acC>acT p.T165T NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTTGCTCACCCCCATTACCA 0.537000 21 114 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99934381 99934381 + Missense_Mutation SNP C C A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chrX:99934381C>A ENST00000455616.1 - 16 1933 c.1587G>T c.(1585-1587)caG>caT p.Q529H SYTL4_ENST00000372989.1_Missense_Mutation_p.Q529H|SYTL4_ENST00000263033.5_Missense_Mutation_p.Q529H|SYTL4_ENST00000276141.6_Missense_Mutation_p.Q529H|SYTL4_ENST00000454200.2_Missense_Mutation_p.Q531H Q96C24 SYTL4_HUMAN synaptotagmin-like 4 529 C2 2. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGATCCACACCTGGAGCTCTC 0.512000 38 107 8.16277e-20 8.58603e-20 1 1 0 MYH14 79784 broad.mit.edu 37 19 50784917 50784917 + Missense_Mutation SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr19:50784917C>T ENST00000440075.2 + 33 4404 c.4357C>T c.(4357-4359)Cgc>Tgc p.R1453C MYH14_ENST00000601313.1_Missense_Mutation_p.R1453C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1420C|MYH14_ENST00000596571.1_Missense_Mutation_p.R1412C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1420C|MYH14_ENST00000376970.2_Missense_Mutation_p.R1445C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1453C Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1412 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GGAGGCACGGCGCCGGGCAGC 0.726000 8 1 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96740964 96740964 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr10:96740964G>A ENST00000260682.6 + 7 998 c.986G>A c.(985-987)cGt>cAt p.R329H NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 329 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GAGATTGAACGTGTGATTGGC 0.463000 17 248 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117662871 117662871 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr12:117662871G>A ENST00000317775.6 - 25 4461 c.3776C>T c.(3775-3777)gCc>gTc p.A1259V NOS1_ENST00000338101.4_Missense_Mutation_p.A1293V|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1259 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCGGAAAGGGGCAATGCCGGT 0.607000 5 336 0 0 1 0 0 NOS1AP 9722 broad.mit.edu 37 1 162313631 162313631 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:162313631G>A ENST00000361897.5 + 6 862 c.460G>A c.(460-462)Gct>Act p.A154T NOS1AP_ENST00000530878.1_Missense_Mutation_p.A149T NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 154 PID. 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) CCAGAGCCAAGCTATGAGAAT 0.537000 9 197 0 0 1 0 0 HSPA1L 0 broad.mit.edu 37 6 31779583 31779583 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr6:31779583G>A ENST00000375654.4 - 2 356 c.167C>T c.(166-168)gCg>gTg p.A56V HSPA1L_ENST00000417199.3_Missense_Mutation_p.A56V NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 56 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GTTCTTGGCCGCATCCCCAAT 0.532000 5 302 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212566 26212566 + Silent SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chrX:26212566G>A ENST00000379034.1 + 2 752 c.603G>A c.(601-603)acG>acA p.T201T NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 201 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 AGGCGTGCACGTTGGCGCAAT 0.483000 9 222 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170843805 170843805 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr3:170843805G>A ENST00000436636.2 - 17 2253 c.1909C>T c.(1909-1911)Cgc>Tgc p.R637C TNIK_ENST00000488470.1_Missense_Mutation_p.R582C|TNIK_ENST00000538048.1_Missense_Mutation_p.R582C|TNIK_ENST00000475336.1_Missense_Mutation_p.R553C|TNIK_ENST00000470834.1_Missense_Mutation_p.R608C|TNIK_ENST00000460047.1_Missense_Mutation_p.R582C|TNIK_ENST00000284483.8_Missense_Mutation_p.R637C|TNIK_ENST00000369326.5_Missense_Mutation_p.R608C|TNIK_ENST00000357327.5_Missense_Mutation_p.R608C|TNIK_ENST00000341852.6_Missense_Mutation_p.R553C NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 637 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity p.R637C(2) cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GAGTTCTGGCGTGGCATCTCC 0.572000 28 95 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72127688 72127688 + Missense_Mutation SNP T T C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr8:72127688T>C ENST00000340726.3 - 16 2170 c.1531A>G c.(1531-1533)Aaa>Gaa p.K511E EYA1_ENST00000388742.4_Missense_Mutation_p.K511E|EYA1_ENST00000419131.1_Missense_Mutation_p.K476E|EYA1_ENST00000388743.2_Missense_Mutation_p.K510E|EYA1_ENST00000388740.3_Missense_Mutation_p.K478E|EYA1_ENST00000303824.7_Missense_Mutation_p.K505E|EYA1_ENST00000388741.2_Missense_Mutation_p.K477E NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 511 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity p.K511*(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) AGCAGGACTTTCGCCAATGCT 0.338000 9 258 0 0 1 0 0 PCDHGA12 0 broad.mit.edu 37 5 140810520 140810520 + Missense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr5:140810520G>A ENST00000252085.3 + 1 336 c.194G>A c.(193-195)cGc>cAc p.R65H PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGGAGTCCGCATCATCCCC 0.657000 9 239 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148865734 148865734 + Missense_Mutation SNP C C G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr6:148865734C>G ENST00000367467.3 + 18 3603 c.3128C>G c.(3127-3129)cCt>cGt p.P1043R NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1043 Pro-rich. protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GCTCCCAGGCCTCTCTCAGGG 0.697000 4 44 0 0 1 0 0 NMNAT1 64802 broad.mit.edu 37 1 10042595 10042595 + Missense_Mutation SNP A A G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:10042595A>G ENST00000377205.1 + 5 820 c.676A>G c.(676-678)Atc>Gtc p.I226V NM_022787.3 NP_073624.2 Q9HAN9 NMNA1_HUMAN nicotinamide nucleotide adenylyltransferase 1 226 water-soluble vitamin metabolic process nucleoplasm ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding large_intestine(2)|lung(2)|stomach(1) 5 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419) ATCCACAAAAATCCGGAGAGC 0.448000 71 11 0 0 1 0 0 BTK 695 broad.mit.edu 37 X 100617592 100617592 + Silent SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chrX:100617592G>A ENST00000308731.7 - 6 640 c.477C>T c.(475-477)gcC>gcT p.A159A BTK_ENST00000372880.1_Silent_p.A159A NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 159 calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TAGCATTTTTGGCTGTCTGAG 0.438000 Agammaglobulinemia, X-linked 5 297 0 0 1 0 0 SATB1 6304 broad.mit.edu 37 3 18428052 18428052 + Nonsense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr3:18428052G>A ENST00000338745.6 - 8 2992 c.1258C>T c.(1258-1260)Cag>Tag p.Q420* SATB1_ENST00000417717.2_Nonsense_Mutation_p.Q420*|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Nonsense_Mutation_p.Q420* NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 420 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 AGCAAAGACTGGGATGCAGTC 0.502000 7 184 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95412677 95412677 + Missense_Mutation SNP C C T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr8:95412677C>T ENST00000336148.5 - 7 1083 c.959G>A c.(958-960)tGt>tAt p.C320Y NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) AATAGCTCCACATCTGCCATT 0.373000 Direct reversal of damage;Homologous recombination 12 51 0 0 1 0 0 RP11-206L10.2 0 broad.mit.edu 37 1 700514 700514 + RNA DEL A A - TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:700514delA ENST00000428504.1 - 0 1039 NR_033908.1 actccatctcaaaaaaaaaaa 0.453 2 4 --- --- --- --- SETDB1 9869 broad.mit.edu 37 1 150922948 150922950 + In_Frame_Del DEL CCA CCA - TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr1:150922948_150922950delCCA ENST00000271640.5 + 13 1785_1787 c.1595_1597delCCA c.(1594-1599)tca>t p.ST532del SETDB1_ENST00000368969.4_In_Frame_Del_p.ST532del|SETDB1_ENST00000459773.1_Intron NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 532 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) CCTTTAGGCTCCACAGCCTCTGC 0.576 10 265 --- --- --- --- QARS 5859 broad.mit.edu 37 3 49139864 49139866 + In_Frame_Del DEL CTC CTC - TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr3:49139864_49139866delCTC ENST00000306125.6 - 6 893_895 c.556_558delGAG c.(556-558)del p.E186del QARS_ENST00000420147.2_In_Frame_Del_p.E204del|QARS_ENST00000470225.1_5'UTR|QARS_ENST00000414533.1_In_Frame_Del_p.E175del P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 186 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) TGAACTTCTTCTCCAGATCAGCC 0.576 9 159 --- --- --- --- USP4 7375 broad.mit.edu 37 3 49365164 49365166 + In_Frame_Del DEL TAG TAG - rs143074429 byFrequency TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr3:49365164_49365166delTAG ENST00000351842.4 - 3 321_323 c.313_315delCTA c.(313-315)del p.L105del USP4_ENST00000265560.4_In_Frame_Del_p.L105del|USP4_ENST00000416417.1_In_Frame_Del_p.L105del|USP4_ENST00000415188.1_In_Frame_Del_p.L105del NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 105 DUSP. negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) CGTACCAGTTTAGTAGTTTATTC 0.443 17 181 --- --- --- --- ZNF717 100131827 broad.mit.edu 37 3 75790810 75790811 + Frame_Shift_Ins INS - - T rs76346895 TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr3:75790810_75790811insT ENST00000422325.1 - 3 456_457 c.134_135insA c.(133-135)actfs p.T45fs ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs NM_001128223.1 NP_001121695.1 C9JSV9 C9JSV9_HUMAN zinc finger protein 717 45 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CCCTGTACAGGGTCCTCTGAGC 0.510 5 6 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195690462 195690463 + RNA INS - - G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr3:195690462_195690463insG ENST00000427841.1 - 0 2203 NR_003264.2 catgcgcaacaggggactgtaa 0.366 3 5 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100268753 100268754 + RNA INS - - ATTTAT rs35500540 byFrequency TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr4:100268753_100268754insATTTAT ENST00000515683.1 - 0 472 ADH1C_ENST00000510055.1_RNA NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AAAATTTAACAATTTATACTTT 0.243 3 4 --- --- --- --- MEPCE 56257 broad.mit.edu 37 7 100028465 100028465 + Frame_Shift_Del DEL C C - TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr7:100028465delC ENST00000310512.2 + 1 1212 c.824delC c.(823-825)gafs p.A276fs MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 276 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAGCAGCAGGCAGCCGGAGGG 0.652 28 311 --- --- --- --- TMEM70 54968 broad.mit.edu 37 8 74893730 74893733 + Frame_Shift_Del DEL GTTA GTTA - TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr8:74893730_74893733delGTTA ENST00000312184.5 + 3 730_733 c.657_660delGTTA c.(655-660)ctfs p.LL219fs NM_001040613.2|NM_017866.5 NP_001035703.1|NP_060336.3 Q9BUB7 TMM70_HUMAN transmembrane protein 70 219 mitochondrial proton-transporting ATP synthase complex assembly integral to mitochondrial membrane|mitochondrial inner membrane breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 Breast(64;0.0311) Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564) CAAAATCACTGTTAGTTAATCCAG 0.348 20 178 --- --- --- --- PSAP 5660 broad.mit.edu 37 10 73580004 73580006 + In_Frame_Del DEL TTG TTG - TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr10:73580004_73580006delTTG ENST00000394936.3 - 9 1143_1145 c.996_998delCAA c.(994-999)aag>aa p.NK332del PSAP_ENST00000394934.1_In_Frame_Del_p.NK334del P07602 SAP_HUMAN prosaposin 332 Saposin B-type 3. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 TACCTCAGTCTTGTTGTTGTCAA 0.557 11 178 --- --- --- --- ARMS2 387715 broad.mit.edu 37 10 124214434 124214435 + In_Frame_Ins INS - - CAT TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr10:124214434_124214435insCAT ENST00000528446.1 + 1 266_267 c.191_192insCAT c.(190-192)tat>tCATat p.64_65insS NM_001099667.1 NP_001093137.1 P0C7Q2 ARMS2_HUMAN age-related maculopathy susceptibility 2 64 retina homeostasis mitochondrion|photoreceptor inner segment ovary(1) 1 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTATCACACTCCATGATCCCAG 0.540 84 97 --- --- --- --- AC026495.1 0 broad.mit.edu 37 15 20563423 20563423 + RNA DEL C C - TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr15:20563423delC ENST00000581090.1 + 0 63 cccttcctctcccttcctctc 0.672 5 2 --- --- --- --- RFX7 64864 broad.mit.edu 37 15 56387780 56387780 + Frame_Shift_Del DEL T T - TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr15:56387780delT ENST00000423270.1 - 9 2145 c.2146delA c.(2146-2148)gcfs p.S716fs RFX7_ENST00000317318.6_Frame_Shift_Del_p.S716fs|RFX7_ENST00000559447.2_Frame_Shift_Del_p.S619fs|RFX7_ENST00000422057.1_Frame_Shift_Del_p.S619fs NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 619 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 GATACCTTGCTAGGAATCTGA 0.438 34 119 --- --- --- --- TCF12 6938 broad.mit.edu 37 15 57523426 57523427 + Frame_Shift_Ins INS - - T TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr15:57523426_57523427insT ENST00000267811.5 + 9 960_961 c.656_657insT c.(655-657)aatfs p.N219fs TCF12_ENST00000543579.1_Frame_Shift_Ins_p.N49fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.N49fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.N219fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.N219fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.N215fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.M30fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.N219fs NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 219 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) CCACCAACCAGTATGTTCGCTA 0.366 T TEC extraskeletal myxoid chondrosarcoma 45 233 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419352 16419352 + RNA DEL T T - TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d0f21bc-09ad-40c6-ad40-8db35c89b50f a6aec60a-7190-429c-82d3-cecd9b189962 g.chr22:16419352delT ENST00000444162.1 + 0 279 GAATCGACGATTTTTTTTTTG 0.398 2 4 --- --- --- ---