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 MIS18A 54069 broad.mit.edu 37 21 33651206 33651206 + Missense_Mutation SNP G G C TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr21:33651206G>C ENST00000290130.3 - 1 174 c.120C>G c.(118-120)agC>agG p.S40R MIS18A-AS1_ENST00000453549.1_RNA NM_018944.2 NP_061817.1 Q9NYP9 MS18A_HUMAN MIS18 kinetochore protein A 40 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 7 GCTGGTGGCGGCTCGAGTCTT 0.642000 10 15 0 0 1 0 0 RFX7 64864 broad.mit.edu 37 15 56390461 56390461 + Missense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr15:56390461G>A ENST00000423270.1 - 8 924 c.925C>T c.(925-927)Cgg>Tgg p.R309W RFX7_ENST00000559447.2_Missense_Mutation_p.R212W|RFX7_ENST00000317318.6_Missense_Mutation_p.R309W|RFX7_ENST00000422057.1_Missense_Mutation_p.R212W NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 212 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 TGGATTTTCCGTTGCAACTGC 0.438000 9 26 0 0 1 0 0 GYPB 2994 broad.mit.edu 37 4 144918703 144918703 + Missense_Mutation SNP C C T rs112711627 TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr4:144918703C>T ENST00000283126.7 - 4 315 c.260G>A c.(259-261)cGa>cAa p.R87Q GYPB_ENST00000429670.2_Missense_Mutation_p.D62N|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000502664.1_Missense_Mutation_p.R87Q|GYPB_ENST00000513128.1_Missense_Mutation_p.R54Q|RP11-673E1.4_ENST00000506982.1_RNA glycophorin B (MNS blood group) breast(1)|large_intestine(2)|skin(1) 4 all_hematologic(180;0.158) CTTTATCAGTCGGCGAATACT 0.373000 7 38 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293269 145293269 + Splice_Site SNP G G A rs61350760 by1000genomes TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:145293269G>A ENST00000369338.1 + 1 155 c.e1+1 RP11-458D21.5_ENST00000468030.1_Splice_Site|NBPF10_ENST00000369339.2_Intron A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTCACAACAGTAAGTTAAGA 0.423000 5 89 0 0 1 0 0 ACTA1 58 broad.mit.edu 37 1 229568848 229568848 + Missense_Mutation SNP G G T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:229568848G>T ENST00000366684.3 - 2 117 c.15C>A c.(13-15)gaC>gaA p.D5E ACTA1_ENST00000366683.2_Missense_Mutation_p.D5E NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 5 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton p.D5D(1) endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) CGGTGGTCTCGTCTTCGTCGC 0.657000 38 93 3.77016e-25 4.24143e-25 1 1 0 ADCY2 108 broad.mit.edu 37 5 7698397 7698397 + Missense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr5:7698397G>A ENST00000338316.4 + 7 1108 c.1019G>A c.(1018-1020)tGc>tAc p.C340Y ADCY2_ENST00000537121.1_Missense_Mutation_p.C160Y NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 340 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TTAGGAGACTGCTACTACTGT 0.393000 28 94 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887454 23887454 + Silent SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr14:23887454G>A ENST00000355349.3 - 30 4296 c.4134C>T c.(4132-4134)gaC>gaT p.D1378D NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1378 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GCTGAATGGCGTCCGTCTCAT 0.632000 7 114 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160134025 160134025 + Silent SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:160134025G>A ENST00000368081.4 + 7 1329 c.858G>A c.(856-858)gcG>gcA p.A286A NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 286 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAGGCCTGGCGGTTGGCCAGA 0.557000 27 105 0 0 1 0 0 AC004381.6 0 broad.mit.edu 37 16 20855295 20855295 + Nonsense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr16:20855295C>T ENST00000261377.6 + 16 1875 c.1666C>T c.(1666-1668)Cag>Tag p.Q556* AC004381.6_ENST00000564274.1_Nonsense_Mutation_p.Q556*|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Intron NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 AGAAGCTGCCCAGCTGGCCAT 0.483000 22 70 0 0 1 0 0 ASB8 0 broad.mit.edu 37 12 48543215 48543215 + Silent SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr12:48543215G>A ENST00000317697.3 - 4 970 c.801C>T c.(799-801)ctC>ctT p.L267L ASB8_ENST00000536549.1_Silent_p.L267L|ASB8_ENST00000537754.1_5'UTR NM_024095.3 NP_077000.1 Q9H765 ASB8_HUMAN ankyrin repeat and SOCS box containing 8 267 SOCS box. intracellular signal transduction cytoplasm|nucleus breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1) 11 CTGCATCGGGGAGATACTGGA 0.522000 14 33 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546491 11546491 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr12:11546491C>T ENST00000389362.4 - 3 556 c.521G>A c.(520-522)cGa>cAa p.R174Q PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.R153L(1)|p.R174L(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGAGGAGATCGAGAACTTCG 0.607000 5 414 0 0 1 0 0 AEBP1 165 broad.mit.edu 37 7 44153447 44153447 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr7:44153447C>T ENST00000223357.3 + 21 3369 c.3064C>T c.(3064-3066)Cgc>Tgc p.R1022C AEBP1_ENST00000450684.2_Missense_Mutation_p.R597C NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 1022 Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 GCAGCAGCGACGCCTACAACA 0.682000 19 62 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95085708 95085708 + Missense_Mutation SNP G G A rs144237088 byFrequency TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr14:95085708G>A ENST00000553947.1 + 6 1783 c.895G>A c.(895-897)Gca>Aca p.A299T SERPINA3_ENST00000393080.4_Missense_Mutation_p.A274T|SERPINA3_ENST00000482740.1_Missense_Mutation_p.A56T|SERPINA3_ENST00000467132.1_Missense_Mutation_p.A274T|SERPINA3_ENST00000393078.3_Missense_Mutation_p.A274T|SERPINA3_ENST00000556388.1_Intron P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 274 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) CAATGCCAGCGCACTCTTCAT 0.557000 17 21 0 0 1 0 0 HFE2 148738 broad.mit.edu 37 1 145414854 145414854 + Missense_Mutation SNP C C A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:145414854C>A ENST00000336751.5 + 2 311 c.73C>A c.(73-75)Ctc>Atc p.L25I HFE2_ENST00000357836.5_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 25 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CACTCTCACTCTCCTGCTGCT 0.602000 4 74 1.23904e-05 1.31192e-05 1 1 0 CCDC114 93233 broad.mit.edu 37 19 48801473 48801473 + Silent SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr19:48801473C>T ENST00000315396.7 - 11 1936 c.1254G>A c.(1252-1254)ctG>ctA p.L418L NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 418 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) GGAGCTCCACCAGCCGCTTCT 0.647000 9 29 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803552 142803552 + RNA SNP T T A rs141013493 by1000genomes TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:142803552T>A ENST00000423385.1 - 0 1413 TCCTGATGAATCTGCAGTCAG 0.269000 4 194 0 0 1 0 0 XPO4 64328 broad.mit.edu 37 13 21401283 21401283 + Nonsense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr13:21401283G>A ENST00000400602.2 - 7 798 c.763C>T c.(763-765)Caa>Taa p.Q255* XPO4_ENST00000255305.6_Nonsense_Mutation_p.Q255* NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 255 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AGCACATTTTGCGAGGATTCA 0.393000 19 44 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109701288 109701288 + Silent SNP C C G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr9:109701288C>G ENST00000277225.5 + 7 6616 c.6327C>G c.(6325-6327)gcC>gcG p.A2109A ZNF462_ENST00000542028.1_Silent_p.A66A|ZNF462_ENST00000457913.1_Silent_p.A2169A|ZNF462_ENST00000441147.2_Silent_p.A1015A Q96JM2 ZN462_HUMAN zinc finger protein 462 2109 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ACGGAAAAGCCCTGACCCTCC 0.557000 84 183 0 0 1 0 0 GGT5 2687 broad.mit.edu 37 22 24621251 24621251 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr22:24621251C>T ENST00000327365.4 - 10 1881 c.1465G>A c.(1465-1467)Ggg>Agg p.G489R GGT5_ENST00000418439.2_Missense_Mutation_p.G413R|GGT5_ENST00000263112.7_Missense_Mutation_p.G457R|GGT5_ENST00000398292.3_Missense_Mutation_p.G490R NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 489 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity p.G489R(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 CCGCCAGCCCCGCCAATCACT 0.622000 17 44 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43433714 43433714 + RNA SNP C C G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr19:43433714C>G ENST00000406070.2 - 0 685 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) CTGTTGGTTTCAGACAGCTGC 0.507000 104 253 0 0 1 0 0 ZNF490 57474 broad.mit.edu 37 19 12691963 12691963 + Missense_Mutation SNP T T A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr19:12691963T>A ENST00000311437.6 - 5 1048 c.926A>T c.(925-927)aAg>aTg p.K309M NM_020714.2 NP_065765.1 Q9ULM2 ZN490_HUMAN zinc finger protein 490 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 CCCACATTGCTTACATTCATA 0.423000 4 87 0 0 1 0 0 LRRN4 164312 broad.mit.edu 37 20 6031443 6031443 + Missense_Mutation SNP T T C TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr20:6031443T>C ENST00000378858.4 - 3 1066 c.842A>G c.(841-843)cAg>cGg p.Q281R NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 281 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 CAGAAGGACCTGTAGATGTGG 0.453000 34 55 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126791206 126791206 + Missense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr5:126791206G>A ENST00000274473.6 + 25 3406 c.3139G>A c.(3139-3141)Ggt>Agt p.G1047S MEGF10_ENST00000503335.2_Missense_Mutation_p.G1047S|MEGF10_ENST00000510828.1_3'UTR NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 1047 Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CTCAGAGTGTGGTTATGTGGA 0.428000 37 75 0 0 1 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768649 31768649 + Missense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr21:31768649G>A ENST00000355459.2 + 1 258 c.245G>A c.(244-246)cGt>cAt p.R82H NM_181599.2 NP_853630.2 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 82 5 X 10 AA approximate repeats. intermediate filament endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCCTGCTACCGTCCCAGAACC 0.607000 3 54 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 4 273 0 0 1 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73464594 73464594 + Missense_Mutation SNP C C G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr14:73464594C>G ENST00000556143.1 - 3 1633 c.913G>C c.(913-915)Gat>Cat p.D305H ZFYVE1_ENST00000318876.5_Missense_Mutation_p.D305H|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.D305H NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 305 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) AAAGGGACATCCAGGCCACAG 0.542000 17 24 0 0 1 0 0 TRMT2A 27037 broad.mit.edu 37 22 20104421 20104421 + Silent SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr22:20104421C>T ENST00000252136.7 - 1 397 c.9G>A c.(7-9)gaG>gaA p.E3E TRMT2A_ENST00000403707.3_Silent_p.E3E|RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000439169.2_Silent_p.E3E|TRMT2A_ENST00000404751.3_Silent_p.E3E NM_001257994.1|NM_022727.5|NM_182984.4 NP_001244923.1|NP_073564.3|NP_892029.2 Q8IZ69 TRM2A_HUMAN tRNA methyltransferase 2 homolog A (S. cerevisiae) 3 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(2)|endometrium(2)|lung(5) 9 TGTCGAGGTTCTCACTCATCG 0.657000 3 3 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29247231 29247231 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr2:29247231C>T ENST00000379558.4 + 13 2195 c.1844C>T c.(1843-1845)gCg>gTg p.A615V FAM179A_ENST00000403861.2_Missense_Mutation_p.A560V|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 615 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CTCACCTCGGCGGGTGTCTAG 0.617000 4 14 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138968836 138968836 + Missense_Mutation SNP A A G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr7:138968836A>G ENST00000288561.8 + 15 3185 c.2936A>G c.(2935-2937)aAg>aGg p.K979R UBN2_ENST00000473989.2_Missense_Mutation_p.K1062R NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 1062 Ser-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 GCCTCACCCAAGCCCTCTCTG 0.517000 28 54 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232600814 232600814 + Silent SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:232600814G>A ENST00000366630.1 - 8 2950 c.2592C>T c.(2590-2592)ttC>ttT p.F864F SIPA1L2_ENST00000262861.4_Silent_p.F864F Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 864 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CAGACTGGCCGAAGTCCCGGG 0.473000 4 122 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871043 170871043 + Silent SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr6:170871043G>A ENST00000392092.2 + 3 498 c.219G>A c.(217-219)caG>caA p.Q73Q TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 73 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q73Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcaacagcaacagcagc 0.562000 5 50 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112525243 112525243 + Nonsense_Mutation SNP T T A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:112525243T>A ENST00000369697.1 - 1 175 c.106A>T c.(106-108)Aag>Tag p.K36* KCND3_ENST00000315987.2_Nonsense_Mutation_p.K36*|KCND3_ENST00000302127.4_Nonsense_Mutation_p.K36* Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 36 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) TCCTGCCGCTTGTTCTTGTCG 0.687000 5 51 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150947571 150947571 + Missense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr5:150947571G>A ENST00000261800.5 - 1 934 c.922C>T c.(922-924)Cgg>Tgg p.R308W NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 308 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCATTGCTCCGGGCATAAGAC 0.522000 31 82 0 0 1 0 0 C10orf76 79591 broad.mit.edu 37 10 103751749 103751749 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr10:103751749C>T ENST00000370033.4 - 18 1441 c.1322G>A c.(1321-1323)cGt>cAt p.R441H NM_024541.2 NP_078817.2 Q5T2E6 CJ076_HUMAN chromosome 10 open reading frame 76 441 integral to membrane autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) TACTAAAGGACGGCAGGGAAG 0.438000 39 85 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69816966 69816966 + Missense_Mutation SNP T T A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr4:69816966T>A ENST00000251566.4 - 1 543 c.513A>T c.(511-513)agA>agT p.R171S UGT2A3_ENST00000420231.2_5'UTR NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 171 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CTACAGAAATTCTAAGTGTGA 0.468000 5 34 0 0 1 0 0 IFT88 8100 broad.mit.edu 37 13 21219039 21219039 + Missense_Mutation SNP A A G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr13:21219039A>G ENST00000382778.4 + 21 3036 c.1918A>G c.(1918-1920)Att>Gtt p.I640V IFT88_ENST00000319980.6_Missense_Mutation_p.I640V|IFT88_ENST00000351808.5_Missense_Mutation_p.I631V|IFT88_ENST00000537103.1_Missense_Mutation_p.I612V Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 640 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) AGCCTATTACATTGACACCCA 0.318000 31 84 0 0 1 0 0 C1orf51 148523 broad.mit.edu 37 1 150259073 150259073 + Missense_Mutation SNP G G A rs147269137 TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:150259073G>A ENST00000290363.5 + 5 1314 c.865G>A c.(865-867)Ggc>Agc p.G289S C1orf51_ENST00000369095.1_Missense_Mutation_p.G289S|C1orf51_ENST00000369094.1_Missense_Mutation_p.G201S NM_144697.2 NP_653298.1 Q8N365 CA051_HUMAN chromosome 1 open reading frame 51 289 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CACTGGAACCGGCATTGGCGT 0.552000 5 156 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 7 93 0 0 1 0 0 RGMB 285704 broad.mit.edu 37 5 98115452 98115452 + Missense_Mutation SNP A A G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr5:98115452A>G ENST00000308234.7 + 4 830 c.428A>G c.(427-429)aAc>aGc p.N143S RGMB_ENST00000513185.1_Missense_Mutation_p.N102S|RGMB_ENST00000504776.1_3'UTR NM_001012761.2 NP_001012779.2 Q6NW40 RGMB_HUMAN repulsive guidance molecule family member b 102 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 10 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) TGCCGTGGCAACCTGGTATAC 0.547000 9 38 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102171848 102171848 + Silent SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr3:102171848G>A ENST00000306176.1 + 3 340 c.240G>A c.(238-240)tcG>tcA p.S80S ZPLD1_ENST00000491959.1_Silent_p.S64S|ZPLD1_ENST00000466937.1_Silent_p.S64S NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 64 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CGGGTTATTCGGAAACAGATC 0.413000 22 68 0 0 1 0 0 ERMN 57471 broad.mit.edu 37 2 158181230 158181230 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr2:158181230C>T ENST00000410096.1 - 2 577 c.286G>A c.(286-288)Gat>Aat p.D96N ERMN_ENST00000535935.1_5'UTR|ERMN_ENST00000397283.2_Missense_Mutation_p.D109N|ERMN_ENST00000420719.2_Intron|ERMN_ENST00000409216.1_Missense_Mutation_p.D96N|ERMN_ENST00000409925.1_Missense_Mutation_p.D96N NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 96 cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 AGAGAAAGATCTGTGATAGCC 0.303000 9 32 0 0 1 0 0 ITGB2 3689 broad.mit.edu 37 21 46308729 46308729 + Silent SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr21:46308729C>T ENST00000397850.2 - 15 2411 c.1959G>A c.(1957-1959)tcG>tcA p.S653S ITGB2_ENST00000355153.4_Silent_p.S653S|ITGB2_ENST00000302347.5_Silent_p.S653S|ITGB2_ENST00000397852.1_Silent_p.S653S|ITGB2_ENST00000397854.3_Silent_p.S596S|ITGB2_ENST00000397857.1_Silent_p.S653S P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 653 apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) CGGGGTTGTTCGACAGCTGCA 0.657000 6 37 0 0 1 0 0 OMP 4975 broad.mit.edu 37 11 76814045 76814045 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr11:76814045C>T ENST00000529803.1 + 1 160 c.160C>T c.(160-162)Cgc>Tgc p.R54C CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron NM_006189.1 NP_006180.1 P47874 OMP_HUMAN olfactory marker protein 54 sensory perception of smell|synaptic transmission p.R54C(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 GTCTGTGTACCGCCTCAACTT 0.637000 3 43 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72991718 72991718 + Missense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr16:72991718G>A ENST00000268489.5 - 2 2999 c.2327C>T c.(2326-2328)gCg>gTg p.A776V ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 776 Poly-Ala. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgcagccaccgccgccgccgc 0.637000 14 30 0 0 1 0 0 SLC23A1 9963 broad.mit.edu 37 5 138714919 138714919 + Silent SNP G G T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr5:138714919G>T ENST00000353963.3 - 9 1100 c.1062C>A c.(1060-1062)ccC>ccA p.P354P SLC23A1_ENST00000348729.3_Silent_p.P350P NM_152685.3 NP_689898.2 Q9UHI7 S23A1_HUMAN solute carrier family 23 (ascorbic acid transporter), member 1 350 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) GTACTGGAGGGGGTGGTGCAC 0.607000 33 60 1.57351e-24 1.74835e-24 1 1 0 TBP 6908 broad.mit.edu 37 6 170871088 170871088 + Silent SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr6:170871088G>A ENST00000392092.2 + 3 543 c.264G>A c.(262-264)caG>caA p.Q88Q TBP_ENST00000230354.6_Silent_p.Q88Q|TBP_ENST00000540980.1_Silent_p.Q68Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 88 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q88Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 4 43 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32259746 32259746 + Missense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:32259746G>A ENST00000360482.2 - 11 2491 c.2362C>T c.(2362-2364)Ccc>Tcc p.P788S SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P788S|SPOCD1_ENST00000257100.3_Missense_Mutation_p.P281S NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 788 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TGGCAGTTGGGGTCTAAGAAG 0.637000 17 36 0 0 1 0 0 PRSS50 29122 broad.mit.edu 37 3 46757061 46757061 + Missense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr3:46757061G>A ENST00000460241.1 - 8 2104 c.434C>T c.(433-435)tCc>tTc p.S145F PRSS50_ENST00000315170.7_Missense_Mutation_p.S145F Q9UI38 TSP50_HUMAN protease, serine, 50 145 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 CACCCACTGGGAGGCAATGAT 0.647000 8 22 0 0 1 0 0 BCDIN3D 144233 broad.mit.edu 37 12 50236869 50236869 + Translation_Start_Site SNP A A C TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr12:50236869A>C ENST00000333924.4 - 1 43 c.2T>G c.(1-3)aTg>aGg p.M1R NM_181708.2 NP_859059.1 Q7Z5W3 BN3D2_HUMAN BCDIN3 domain containing 1 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1) 9 GGGCACCGCCATTAGCCTCAA 0.662000 11 25 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123325040 123325040 + Silent SNP G G A rs55806379 TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr10:123325040G>A ENST00000358487.5 - 3 560 c.288C>T c.(286-288)ggC>ggT p.G96G FGFR2_ENST00000457416.2_Silent_p.G96G|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000346997.2_Silent_p.G96G|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000356226.4_Intron NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 96 Ig-like C2-type 1. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TAGGCGTGGCGCCCTTTATCT 0.522000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 5 91 0 0 1 0 0 H2AFZ 3015 broad.mit.edu 37 4 100870896 100870896 + Splice_Site SNP G G C TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr4:100870896G>C ENST00000296417.5 - 2 222 c.3_splice c.e2-1 p.A2_splice H2AFZ_ENST00000529158.1_5'UTR NM_002106.3 NP_002097.1 P0C0S5 H2AZ_HUMAN H2A histone family, member Z 2 Required for interaction with INCENP (By similarity). nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(3)|lung(1) 5 OV - Ovarian serous cystadenocarcinoma(123;2.32e-08) CTTACCGCCAGCCTGCGGCGC 0.662000 34 61 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149512437 149512437 + RNA SNP G G T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr7:149512437G>T ENST00000378016.2 + 0 10757 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCCACTGCCGCTGCCAGTAC 0.721000 7 9 2.0095e-06 2.17897e-06 1 1 0 MTMR2 8898 broad.mit.edu 37 11 95580967 95580967 + Nonsense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr11:95580967G>A ENST00000393223.3 - 12 1536 c.874C>T c.(874-876)Cga>Tga p.R292* MTMR2_ENST00000409459.1_Nonsense_Mutation_p.R292*|MTMR2_ENST00000346299.5_Nonsense_Mutation_p.R364*|MTMR2_ENST00000352297.7_Nonsense_Mutation_p.R292* NM_001243571.1|NM_201278.2 NP_001230500.1|NP_958435.1 Q13614 MTMR2_HUMAN myotubularin related protein 2 364 Myotubularin phosphatase. nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTAAGTTTTCGTAATGATTCT 0.403000 28 56 0 0 1 0 0 CEBPZ 10153 broad.mit.edu 37 2 37455178 37455178 + Missense_Mutation SNP T T G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr2:37455178T>G ENST00000234170.5 - 2 1303 c.1158A>C c.(1156-1158)caA>caC p.Q386H NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 386 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) TATTTACCACTTGCACAAGAA 0.413000 39 95 0 0 1 0 0 C16orf45 89927 broad.mit.edu 37 16 15609240 15609240 + Missense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr16:15609240G>A ENST00000300006.4 + 2 544 c.185G>A c.(184-186)cGt>cAt p.R62H C16orf45_ENST00000561692.1_Missense_Mutation_p.R14H|C16orf45_ENST00000452191.2_Missense_Mutation_p.R45H|C16orf45_ENST00000566490.1_Missense_Mutation_p.R62H NM_033201.2 NP_149978.1 Q96MC5 CP045_HUMAN chromosome 16 open reading frame 45 62 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1) 11 AAAATTCAGCGTCTCCGGGAA 0.522000 7 24 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158943542 158943542 + Missense_Mutation SNP C C A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:158943542C>A ENST00000368140.1 + 8 1710 c.1465C>A c.(1465-1467)Cca>Aca p.P489T PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P480T|PYHIN1_ENST00000392254.2_Intron NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 489 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) CAACCGCCATCCAGCAGTTCC 0.448000 16 90 6.94344e-10 7.62085e-10 1 1 0 TTN 7273 broad.mit.edu 37 2 179482528 179482528 + Silent SNP G G A rs113350914 TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr2:179482528G>A ENST00000589042.1 - 253 47774 c.47550C>T c.(47548-47550)ttC>ttT p.F15850F TTN_ENST00000591111.1_Silent_p.F14209F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.F6785F|TTN_ENST00000359218.5_Silent_p.F6910F|TTN_ENST00000342992.6_Silent_p.F13282F|TTN_ENST00000342175.6_Silent_p.F6977F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14209 Fibronectin type-III 15. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAACTTTGACGAAGGGTGTGG 0.403000 27 54 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118484412 118484412 + Missense_Mutation SNP A A G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:118484412A>G ENST00000349139.4 + 9 978 c.931A>G c.(931-933)Aaa>Gaa p.K311E NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 311 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) TATCCTTTCCAAAAAGGAAAT 0.323000 11 26 0 0 1 0 0 ABHD8 79575 broad.mit.edu 37 19 17412032 17412032 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr19:17412032C>T ENST00000247706.3 - 2 633 c.394G>A c.(394-396)Gcc>Acc p.A132T MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 132 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 ctgccgGGGGCCAAGCGGCCA 0.726000 13 19 0 0 1 0 0 MMP11 4320 broad.mit.edu 37 22 24124530 24124530 + Missense_Mutation SNP A A G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr22:24124530A>G ENST00000215743.3 + 7 1245 c.1193A>G c.(1192-1194)aAc>aGc p.N398S AP000349.1_ENST00000598975.1_Silent_p.C228C NM_005940.3 NP_005931.2 P24347 MMP11_HUMAN matrix metallopeptidase 11 (stromelysin 3) 398 Hemopexin-like 3. collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 27 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) CCCGAGAAGAACAAGATCTAC 0.647000 10 42 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155507879 155507879 + Silent SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr4:155507879G>A ENST00000302053.3 - 5 780 c.702C>T c.(700-702)ccC>ccT p.P234P FGA_ENST00000403106.3_Silent_p.P234P NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 234 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TAAAATTTCCGGGAACCAAGT 0.453000 9 74 0 0 1 0 0 HOXC11 3227 broad.mit.edu 37 12 54369166 54369166 + Missense_Mutation SNP T T C TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr12:54369166T>C ENST00000546378.1 + 2 1000 c.884T>C c.(883-885)cTg>cCg p.L295P HOXC11_ENST00000243082.4_Silent_p.A296A O43248 HXC11_HUMAN homeobox C11 295 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 AGAGACCGGCTGCAGTATTTC 0.468000 T NUP98 AML 12 38 0 0 1 0 0 KDM4B 23030 broad.mit.edu 37 19 5077467 5077467 + Missense_Mutation SNP A A G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr19:5077467A>G ENST00000159111.4 + 8 984 c.766A>G c.(766-768)Atc>Gtc p.I256V KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.I256V|KDM4B_ENST00000381759.4_Missense_Mutation_p.I256V NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 256 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 GAAGTACGGGATCCCCTTCAG 0.642000 4 150 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 5 102 0 0 1 0 0 ZBTB24 9841 broad.mit.edu 37 6 109802616 109802616 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr6:109802616C>T ENST00000230122.3 - 2 781 c.614G>A c.(613-615)gGt>gAt p.G205D NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 205 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) ATTCAGTACACCACTGTCTCC 0.413000 56 161 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089489 86089489 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr14:86089489C>T ENST00000330753.4 + 2 2398 c.1631C>T c.(1630-1632)gCg>gTg p.A544V FLRT2_ENST00000554746.1_Missense_Mutation_p.A544V NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 544 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TTTCTGCTGGCGGGCTTGATC 0.597000 41 89 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110984699 110984699 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr8:110984699C>T ENST00000524391.1 - 3 1811 c.779G>A c.(778-780)cGc>cAc p.R260H KCNV1_ENST00000297404.1_Missense_Mutation_p.R260H Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 260 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) ACACAGGAAGCGGAGGACAAA 0.532000 4 47 0 0 1 0 0 FCGR2B 2213 broad.mit.edu 37 1 161642793 161642793 + Silent SNP G G T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:161642793G>T ENST00000367962.4 + 4 547 c.420G>T c.(418-420)ctG>ctT p.L140L RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000358671.5_Silent_p.L140L|FCGR2B_ENST00000236937.9_Silent_p.L140L|FCGR2B_ENST00000367961.4_Silent_p.L133L|FCGR2B_ENST00000428605.2_Silent_p.L140L|FCGR2B_ENST00000403078.3_Silent_p.L140L|FCGR2B_ENST00000367960.5_Silent_p.L133L P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) 140 Ig-like C2-type 2. immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCCCTCACCTGGAGTTCCAGG 0.532000 T ? ALL 4 35 3.59834e-05 3.7657e-05 1 1 0 METTL21C 196541 broad.mit.edu 37 13 103338687 103338687 + Missense_Mutation SNP A A T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr13:103338687A>T ENST00000267273.6 - 4 494 c.489T>A c.(487-489)caT>caA p.H163Q NM_001010977.1 NP_001010977.1 Q5VZV1 MT21C_HUMAN methyltransferase like 21C 163 methyltransferase activity breast(1)|large_intestine(3)|lung(2)|skin(1) 7 CTTCAGGCAGATGTGCTGTAC 0.418000 19 42 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179558355 179558355 + Missense_Mutation SNP C C A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr2:179558355C>A ENST00000589042.1 - 119 31799 c.31575G>T c.(31573-31575)agG>agT p.R10525S TTN_ENST00000591111.1_Missense_Mutation_p.R10208S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R9281S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10208 Glu-rich.|Pro-rich. 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) GTGGTTCAACCCTTTTGGAAA 0.289000 3 20 0.004672 0.00477818 1 1 0 ADORA3 140 broad.mit.edu 37 1 112045902 112045902 + Silent SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:112045902G>A ENST00000241356.4 - 1 480 c.75C>T c.(73-75)tgC>tgT p.C25C ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Silent_p.C25C NM_000677.3 NP_000668.1 P33765 AA3R_HUMAN adenosine A3 receptor 25 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) CCACTATGGCGCAGAGTCCAA 0.527000 12 30 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32632433 32632433 + Missense_Mutation SNP G G A rs141135220 TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr9:32632433G>A ENST00000242310.4 - 1 3234 c.3145C>T c.(3145-3147)Cgc>Tgc p.R1049C NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1049 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.R1049C(1) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GACATTGTGCGCACCACATCA 0.473000 47 151 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871082 170871082 + Silent SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr6:170871082G>A ENST00000392092.2 + 3 537 c.258G>A c.(256-258)caG>caA p.Q86Q TBP_ENST00000230354.6_Silent_p.Q86Q|TBP_ENST00000540980.1_Silent_p.Q66Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 86 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q86Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 5 46 0 0 1 0 0 C1orf177 163747 broad.mit.edu 37 1 55273356 55273356 + Missense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:55273356G>A ENST00000358193.3 + 3 404 c.350G>A c.(349-351)cGg>cAg p.R117Q C1orf177_ENST00000371273.3_Missense_Mutation_p.R117Q NM_152607.2 NP_689820.2 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 117 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 AAAGAGAAGCGGCTGAAGGTG 0.617000 4 14 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22155393 22155393 + Frame_Shift_Del DEL C C - TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:22155393delC ENST00000374695.3 - 88 12251 c.12172delG c.(12172-12174)agfs p.E4058fs HSPG2_ENST00000486901.1_5'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 4058 Laminin G-like 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) ACGGAAGGCTCCACACCCCCC 0.687 2 4 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708697 180708698 + RNA INS - - A rs1815381 TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr5:180708697_180708698insA ENST00000412295.2 + 0 238 ggggcggtaggcgggggctgga 0.718 6 8 --- --- --- --- RP11-3B12.2 0 broad.mit.edu 37 7 124940517 124940517 + RNA DEL G G - TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr7:124940517delG ENST00000424515.2 + 0 648 ttttttttttGCAATTTTGTA 0.264 2 4 --- --- --- --- EQTN 54586 broad.mit.edu 37 9 27291028 27291030 + In_Frame_Del DEL ATT ATT - TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr9:27291028_27291030delATT ENST00000380032.3 - 5 491_493 c.408_410delAAT c.(406-411)acg>ac p.TM136del EQTN_ENST00000537675.1_In_Frame_Del_p.TM107del NM_020641.2 NP_065692.2 equatorin, sperm acrosome associated TTTAGCTAACATTGTCCAAAATG 0.335 13 22 --- --- --- --- DGKK 139189 broad.mit.edu 37 X 50165595 50165596 + RNA INS - - ACAC rs59226442 TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chrX:50165595_50165596insACAC ENST00000376025.2 - 0 816 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TTAAAAGGTAAacacacacaca 0.411 3 6 --- --- --- ---