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 DNAH11 8701 broad.mit.edu 37 7 21751477 21751477 + Splice_Site SNP C C A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr7:21751477C>A ENST00000328843.6 + 43 7034 c.7003C>A c.(7003-7005)Ccg>Acg p.P2335T DNAH11_ENST00000409508.3_Splice_Site_p.P2328T Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2335 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GGGCTGGAATCCGTGAGTATT 0.393000 Kartagener syndrome 19 17 3.32936e-07 3.40334e-07 1 1 0 NLN 57486 broad.mit.edu 37 5 65118647 65118647 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:65118647G>A ENST00000380985.5 + 13 2197 c.2019G>A c.(2017-2019)ggG>ggA p.G673G NLN_ENST00000515595.1_3'UTR|NLN_ENST00000502464.1_Silent_p.G569G NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 673 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) TGAAACCTGGGGGATCTCTGG 0.408000 28 67 0 0 1 0 0 PTRF 284119 broad.mit.edu 37 17 40556892 40556892 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:40556892C>T ENST00000357037.5 - 2 1405 c.986G>A c.(985-987)cGc>cAc p.R329H NM_012232.5 NP_036364.2 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 329 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) CTGGCCCTCGCGGATCTTCTT 0.677000 24 66 0 0 1 0 0 ZNF792 126375 broad.mit.edu 37 19 35451871 35451871 + Missense_Mutation SNP T T C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:35451871T>C ENST00000404801.1 - 2 447 c.61A>G c.(61-63)Att>Gtt p.I21V NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 21 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GAGAAGTAAATGGTCACGTCC 0.547000 76 102 0 0 1 0 0 FCRL2 79368 broad.mit.edu 37 1 157739894 157739894 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:157739894G>A ENST00000361516.3 - 4 405 c.357C>T c.(355-357)atC>atT p.I119I FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Silent_p.I119I NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 119 Ig-like C2-type 2. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GACCCCCTTCGATGGGCTGGA 0.527000 40 41 0 0 1 0 0 SIRT5 23408 broad.mit.edu 37 6 13588578 13588578 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr6:13588578G>A ENST00000606117.1 + 4 427 c.131G>A c.(130-132)cGa>cAa p.R44Q SIRT5_ENST00000379262.4_Missense_Mutation_p.R44Q|SIRT5_ENST00000397350.2_Intron|SIRT5_ENST00000359782.3_Missense_Mutation_p.R44Q NM_012241.4 NP_036373.1 Q9NXA8 SIRT5_HUMAN sirtuin 5 44 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding p.R44Q(2) breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) GCAGATTTTCGAAAGTTTTTT 0.403000 35 32 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47349884 47349884 + Silent SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr21:47349884C>G ENST00000400314.1 + 12 1109 c.771C>G c.(769-771)ctC>ctG p.L257L PCBP3_ENST00000400304.1_Silent_p.L247L|PCBP3_ENST00000449640.1_Silent_p.L257L|PCBP3_ENST00000400309.1_Silent_p.L256L|PCBP3_ENST00000400310.1_Silent_p.L257L|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400308.1_Silent_p.L231L P57721 PCBP3_HUMAN poly(rC) binding protein 3 257 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) TTCCTCCCCTCGGACAGACCA 0.552000 60 105 0 0 1 0 0 MARK4 57787 broad.mit.edu 37 19 45783636 45783636 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:45783636G>A ENST00000300843.4 + 11 1308 c.1011G>A c.(1009-1011)gtG>gtA p.V337V MARK4_ENST00000262891.4_Silent_p.V337V NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 337 UBA. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) TCCCAGAGGTGATGGTGGGTA 0.507000 115 148 0 0 1 0 0 FAM151B 167555 broad.mit.edu 37 5 79837636 79837636 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:79837636C>G ENST00000282226.4 + 6 971 c.816C>G c.(814-816)atC>atG p.I272M FAM151B_ENST00000511718.1_3'UTR NM_205548.2 NP_991111.2 Q6UXP7 F151B_HUMAN family with sequence similarity 151, member B 272 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 7 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36) CCATTGGAATCAAAGTTAATC 0.299000 12 9 0 0 1 0 0 IGKV1-6 28943 broad.mit.edu 37 2 89265917 89265917 + RNA SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:89265917G>C ENST00000464162.1 - 0 243 ACTGGATGCAGCATAGATCAG 0.507000 114 136 0 0 1 0 0 LPIN1 23175 broad.mit.edu 37 2 11911614 11911614 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:11911614G>A ENST00000256720.2 + 4 498 c.405G>A c.(403-405)acG>acA p.T135T LPIN1_ENST00000396099.1_Silent_p.T141T|LPIN1_ENST00000449576.2_Silent_p.T184T|LPIN1_ENST00000396098.1_Silent_p.T141T|LPIN1_ENST00000425416.2_Silent_p.T141T NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 135 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) ACCCCAGCACGCCAGCCCAAG 0.567000 12 61 0 0 1 0 0 RFX7 64864 broad.mit.edu 37 15 56388173 56388173 + Missense_Mutation SNP C C T rs140370063 by1000genomes TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr15:56388173C>T ENST00000423270.1 - 9 1752 c.1753G>A c.(1753-1755)Gaa>Aaa p.E585K RFX7_ENST00000559447.2_Missense_Mutation_p.E488K|RFX7_ENST00000422057.1_Missense_Mutation_p.E488K|RFX7_ENST00000317318.6_Missense_Mutation_p.E585K NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 488 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 ATGACACCTTCATTTGAAGGT 0.458000 21 14 0 0 1 0 0 ACSL1 2180 broad.mit.edu 37 4 185684329 185684329 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr4:185684329C>T ENST00000515030.1 - 16 1838 c.1513G>A c.(1513-1515)Gag>Aag p.E505K ACSL1_ENST00000507295.1_Missense_Mutation_p.E471K|ACSL1_ENST00000454703.2_Missense_Mutation_p.E334K|ACSL1_ENST00000513317.1_Missense_Mutation_p.E505K|ACSL1_ENST00000281455.2_Missense_Mutation_p.E505K|ACSL1_ENST00000437665.3_Missense_Mutation_p.E334K|ACSL1_ENST00000504342.1_Missense_Mutation_p.E505K P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 505 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ACCTCGCCCTCGCCCTCGGCA 0.478000 8 21 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178063703 178063703 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:178063703G>A ENST00000448150.3 + 1 840 c.22G>A c.(22-24)Gac>Aac p.D8N RASAL2_ENST00000367649.3_Missense_Mutation_p.D26N NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 0 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 GCTGGAGTCCGACTCGCCGCT 0.706000 11 6 0 0 1 0 0 DEF6 50619 broad.mit.edu 37 6 35287672 35287672 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr6:35287672G>A ENST00000316637.5 + 9 1464 c.1459G>A c.(1459-1461)Gcg>Acg p.A487T DEF6_ENST00000542066.1_Missense_Mutation_p.A232T NM_022047.3 NP_071330.3 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog (mouse) 487 Glu-rich. cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 CATCGAACGGGCGCAGCAGGA 0.617000 4 5 0 0 1 0 0 CDC7 8317 broad.mit.edu 37 1 91967356 91967356 + Nonsense_Mutation SNP T T A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:91967356T>A ENST00000428239.1 + 2 342 c.83T>A c.(82-84)tTa>tAa p.L28* CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28* NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 28 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) GAAGGCTCTTTAAAAAAAAAC 0.403000 5 143 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10398335 10398335 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:10398335C>T ENST00000226207.5 - 37 5473 c.5379G>A c.(5377-5379)acG>acA p.T1793T RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1793 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGTCCTTCACCGTCTGTTCCA 0.557000 119 12 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43623613 43623613 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr10:43623613G>C ENST00000355710.3 + 20 3473 c.3241G>C c.(3241-3243)Gat>Cat p.D1081H NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 1081 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CACGAGAGCTGATGGCACTAA 0.438000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 41 82 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168104956 168104956 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:168104956G>A ENST00000409195.1 + 9 7143 c.7054G>A c.(7054-7056)Gat>Aat p.D2352N XIRP2_ENST00000295237.9_Missense_Mutation_p.D2352N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2130N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2177 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACCTCCAGTAGATGAGAAATC 0.473000 47 131 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56321382 56321382 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:56321382C>G ENST00000262290.4 + 3 420 c.104C>G c.(103-105)tCc>tGc p.S35C LPO_ENST00000421678.2_Intron|LPO_ENST00000582328.1_Intron|LPO_ENST00000543544.1_Intron NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 35 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 TCTGCCATCTCCGATACTGTG 0.542000 11 32 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126916142 126916142 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr3:126916142C>T ENST00000398112.1 + 2 854 c.614C>T c.(613-615)tCa>tTa p.S205L NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) TGCTGCAGTTCAGAGCTCCGC 0.652000 40 6 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71949104 71949104 + Missense_Mutation SNP G G T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:71949104G>T ENST00000298229.2 + 27 3775 c.3571G>T c.(3571-3573)Ggg>Tgg p.G1191W INPPL1_ENST00000541756.1_Missense_Mutation_p.G949W|INPPL1_ENST00000538751.1_Missense_Mutation_p.G949W NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1191 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CCTGCAGGGCGGGCGGGCCAG 0.657000 OREG0021191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 19 0.000586117 0.000592558 1 1 0 VDAC1 7416 broad.mit.edu 37 5 133326826 133326826 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:133326826G>A ENST00000265333.3 - 4 381 c.137C>T c.(136-138)tCa>tTa p.S46L VDAC1_ENST00000395047.2_Missense_Mutation_p.S46L|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395044.3_Missense_Mutation_p.S46L NM_003374.2 NP_003365.1 P21796 VDAC1_HUMAN voltage-dependent anion channel 1 46 apoptosis|interspecies interaction between organisms mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex porin activity|protein binding|voltage-gated anion channel activity endometrium(1)|large_intestine(1)|lung(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) Dihydroxyaluminium(DB01375) AGTGTTGGCTGAGCCTGAGCT 0.478000 27 84 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 6 133 0 0 1 0 0 PATL1 219988 broad.mit.edu 37 11 59415362 59415362 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:59415362C>T ENST00000300146.9 - 15 1842 c.1758G>A c.(1756-1758)caG>caA p.Q586Q NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 586 Region C. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 TACACATGATCTGTACAAAGT 0.438000 20 30 0 0 1 0 0 FAM151B 167555 broad.mit.edu 37 5 79837648 79837648 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:79837648C>T ENST00000282226.4 + 6 983 c.828C>T c.(826-828)ctC>ctT p.L276L FAM151B_ENST00000511718.1_3'UTR NM_205548.2 NP_991111.2 Q6UXP7 F151B_HUMAN family with sequence similarity 151, member B 276 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 7 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36) AAGTTAATCTCTAAGAAGAAG 0.299000 10 9 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50740776 50740776 + Nonsense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr10:50740776G>A ENST00000355832.5 - 2 313 c.235C>T c.(235-237)Cag>Tag p.Q79* ERCC6-PGBD3_ENST00000515869.1_Nonsense_Mutation_p.Q79*|PGBD3_ENST00000603152.1_Nonsense_Mutation_p.Q79*|ERCC6-PGBD3_ENST00000447839.2_Nonsense_Mutation_p.Q79* NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 79 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GCCTGGATCTGATGTCGGTCG 0.622000 Direct reversal of damage;Nucleotide excision repair (NER) 25 33 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111164350 111164350 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr13:111164350C>T ENST00000360467.5 + 48 5257 c.4951C>T c.(4951-4953)Cgc>Tgc p.R1651C NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1651 Collagen IV NC1. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AGAGGACTTCCGCGCCACACC 0.617000 34 74 0 0 1 0 0 C10orf82 143379 broad.mit.edu 37 10 118424359 118424359 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr10:118424359C>G ENST00000369210.3 - 4 428 c.374G>C c.(373-375)aGa>aCa p.R125T C10orf82_ENST00000588184.1_Missense_Mutation_p.R125T NM_144661.2 NP_653262.1 Q8WW14 CJ082_HUMAN chromosome 10 open reading frame 82 125 endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all cancers(201;0.0143) GACAGTGTATCTCGTGCCACA 0.522000 49 64 0 0 1 0 0 TTLL7 79739 broad.mit.edu 37 1 84399296 84399296 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:84399296G>A ENST00000260505.8 - 9 1419 c.1042C>T c.(1042-1044)Ctg>Ttg p.L348L TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 348 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) CTTACCTCCAGAAGCCATGGC 0.373000 67 71 0 0 1 0 0 TRMT10B 158234 broad.mit.edu 37 9 37768130 37768130 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:37768130G>C ENST00000297994.3 + 5 543 c.478G>C c.(478-480)Gac>Cac p.D160H RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377753.2_Missense_Mutation_p.D82H|TRMT10B_ENST00000537911.1_Intron|TRMT10B_ENST00000377754.2_Missense_Mutation_p.D65H NM_144964.2 NP_659401.2 tRNA methyltransferase 10 homolog B (S. cerevisiae) CAAAAAAGCTGACAGGCCATT 0.413000 77 100 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61712986 61712986 + Missense_Mutation SNP A A G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr8:61712986A>G ENST00000423902.2 + 5 2757 c.2278A>G c.(2278-2280)Act>Gct p.T760A CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.T760A NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 760 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAAGCGCTACACTGAAGACCT 0.478000 21 21 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128380819 128380819 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:128380819G>A ENST00000389524.4 + 28 3663 c.3610G>A c.(3610-3612)Gcc>Acc p.A1204T MYO7B_ENST00000409816.2_Missense_Mutation_p.A1204T|MYO7B_ENST00000409090.1_Missense_Mutation_p.A57T|MYO7B_ENST00000428314.1_Missense_Mutation_p.A1204T Q6PIF6 MYO7B_HUMAN myosin VIIB 1204 FERM 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGTCATCTTGGCCACTGGAGA 0.577000 12 43 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131380380 131380380 + Missense_Mutation SNP G G T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:131380380G>T ENST00000358161.5 + 43 5706 c.5593G>T c.(5593-5595)Gct>Tct p.A1865S SPTAN1_ENST00000372731.4_Missense_Mutation_p.A1860S|SPTAN1_ENST00000372739.3_Missense_Mutation_p.A1865S Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1860 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GCAGCTGGCAGCTGCCCGGTG 0.612000 43 4 6.04917e-29 6.28841e-29 1 1 0 MXRA8 54587 broad.mit.edu 37 1 1290868 1290868 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:1290868G>C ENST00000477278.2 - 3 824 c.311C>G c.(310-312)tCg>tGg p.S104W MXRA8_ENST00000342753.4_Intron|MXRA8_ENST00000309212.6_Missense_Mutation_p.S113W|MXRA8_ENST00000445648.2_Missense_Mutation_p.S113W NM_001282583.1 NP_001269512.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 Ig-like V-type 1. integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GTCGAAGGCCGAGGCCGAGAG 0.796000 9 5 0 0 1 0 0 SNAP29 9342 broad.mit.edu 37 22 21213484 21213484 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr22:21213484G>A ENST00000215730.7 + 1 214 c.86G>A c.(85-87)cGa>cAa p.R29Q NM_004782.3 NP_004773.1 O95721 SNP29_HUMAN synaptosomal-associated protein, 29kDa cellular membrane fusion|exocytosis|protein transport|vesicle targeting cell junction|cytoplasm|nucleus|synapse|synaptosome SNAP receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1) 9 all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|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;0.000592)|Lung(15;0.0117) AGGGACGCCCGAGACCTCCCC 0.716000 10 28 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49928679 49928679 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr3:49928679G>A ENST00000296474.3 - 17 3622 c.3595C>T c.(3595-3597)Ctg>Ttg p.L1199L MST1R_ENST00000344206.4_Silent_p.L1150L NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1199 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TGCTCTGCCAGGTACTCCATG 0.612000 63 2 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29624093 29624093 + Splice_Site SNP G G T rs75468660 TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr20:29624093G>T ENST00000278882.3 + 4 496 c.e4+1 FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site p.?(6) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CTGATTCCAGGTGAGCTTATG 0.299000 4 25 0.00116845 0.00117483 1 1 0 MKL2 57496 broad.mit.edu 37 16 14339510 14339510 + Missense_Mutation SNP A A T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr16:14339510A>T ENST00000571589.1 + 11 1377 c.1205A>T c.(1204-1206)gAc>gTc p.D402V MKL2_ENST00000341243.5_Missense_Mutation_p.D391V|MKL2_ENST00000318282.5_Missense_Mutation_p.D402V|MKL2_ENST00000574045.1_Missense_Mutation_p.D402V NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 391 SAP. cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGCCTGGATGACTTAAAGGTG 0.433000 61 94 0 0 1 0 0 PRTN3 5657 broad.mit.edu 37 19 846267 846267 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:846267G>A ENST00000544537.2 + 3 549 c.367G>A c.(367-369)Gac>Aac p.D123N PRTN3_ENST00000234347.5_Missense_Mutation_p.D164N P24158 PRTN3_HUMAN proteinase 3 164 Peptidase S1. collagen catabolic process|positive regulation of cell proliferation|proteolysis protein binding|serine-type endopeptidase activity lung(1)|ovary(2)|urinary_tract(1) 4 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGTGCCCACGACCCCCCAGC 0.677000 8 8 0 0 1 0 0 SCNM1 79005 broad.mit.edu 37 1 151141526 151141526 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:151141526G>A ENST00000368905.4 + 7 769 c.658G>A c.(658-660)Gat>Aat p.D220N NM_001204856.1|NM_024041.3 NP_001191785.1|NP_076946.1 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 220 mRNA processing|RNA splicing nucleus metal ion binding|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GTTTGACTCTGATGAGGAGGA 0.423000 52 68 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109697193 109697193 + Silent SNP A A G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chrX:109697193A>G ENST00000465301.2 + 3 3594 c.3348A>G c.(3346-3348)ggA>ggG p.G1116G RGAG1_ENST00000540313.1_Silent_p.G1116G NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1116 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 CAGCCTCTGGATCAAAGCCCA 0.527000 110 8 0 0 1 0 0 GPR142 350383 broad.mit.edu 37 17 72368159 72368159 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:72368159C>T ENST00000335666.4 + 4 857 c.809C>T c.(808-810)tCg>tTg p.S270L NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 270 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CGGGCCGCCTCGTCCCCAGGC 0.657000 23 22 0 0 1 0 0 P4HA3 283208 broad.mit.edu 37 11 74009284 74009284 + Missense_Mutation SNP C C G rs142768884 byFrequency TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:74009284C>G ENST00000331597.4 - 4 735 c.690G>C c.(688-690)ttG>ttC p.L230F P4HA3_ENST00000427714.2_Missense_Mutation_p.L230F NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 230 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) CCAAGTGATCCAAGGCATCTT 0.443000 48 87 0 0 1 0 0 FZD9 8326 broad.mit.edu 37 7 72848451 72848451 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr7:72848451G>A ENST00000344575.3 + 1 343 c.114G>A c.(112-114)ccG>ccA p.P38P NM_003508.2 NP_003499.1 O00144 FZD9_HUMAN frizzled family receptor 9 38 FZ. B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 14 Lung NSC(55;0.0659)|all_lung(88;0.152) GGGCTGCGCCGTGCCAGGCGG 0.761000 20 17 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25969114 25969114 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr15:25969114G>A ENST00000356865.6 - 6 1145 c.1034C>T c.(1033-1035)cCc>cTc p.P345L NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 345 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) ATCAGACTTGGGGACATAAAA 0.373000 44 74 0 0 1 0 0 RPL31P11 641311 broad.mit.edu 37 1 161654755 161654755 + RNA SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:161654755G>A ENST00000426558.1 - 0 287 NR_002595.1 ACACGGATTCGGTATGGGACA 0.448000 17 18 0 0 1 0 0 PRF1 5551 broad.mit.edu 37 10 72360386 72360386 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr10:72360386C>T ENST00000441259.1 - 2 433 c.273G>A c.(271-273)gcG>gcA p.A91A PRF1_ENST00000373209.2_Silent_p.A91A NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 91 MACPF. A -> V (in dbSNP:rs35947132). apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 AGTTGGTGAGCGCCAGAGGCA 0.657000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 18 16 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131379944 131379944 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:131379944G>C ENST00000358161.5 + 42 5496 c.5383G>C c.(5383-5385)Gag>Cag p.E1795Q SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1790Q|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1795Q Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1790 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GGTGGGCTCAGAGGACTACGG 0.572000 27 6 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 76 0 0 1 0 0 TIMM50 92609 broad.mit.edu 37 19 39971574 39971574 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:39971574G>A ENST00000314349.4 + 1 523 c.390G>A c.(388-390)gcG>gcA p.A130A TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000599794.1_Silent_p.A27A|TIMM50_ENST00000607714.1_Silent_p.A27A NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 27 mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGAGGTTGGCGACGCCGCCCC 0.706000 9 23 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106916969 106916969 + Missense_Mutation SNP A A T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr10:106916969A>T ENST00000369701.3 + 10 1783 c.1556A>T c.(1555-1557)aAc>aTc p.N519I NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 519 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ATCACTTACAACAAAGGCAGG 0.512000 27 24 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155527888 155527888 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr4:155527888G>A ENST00000404648.3 - 8 1337 c.1098C>T c.(1096-1098)caC>caT p.H366H FGG_ENST00000336098.3_Silent_p.H366H|FGG_ENST00000405164.1_Silent_p.H374H|FGG_ENST00000407946.1_Silent_p.H374H NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 366 Fibrinogen C-terminal. 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 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GATGGCCAGCGTGACACTTGT 0.363000 29 36 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 984698 984698 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:984698C>T ENST00000379370.2 + 25 4431 c.4381C>T c.(4381-4383)Cgg>Tgg p.R1461W NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1461 Laminin G-like 1. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GGAGCTGTCCCGGCACTGGCG 0.687000 15 24 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531924 92531924 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:92531924C>T ENST00000298047.6 + 9 5762 c.5745C>T c.(5743-5745)ccC>ccT p.P1915P FAT3_ENST00000409404.2_Silent_p.P1915P|FAT3_ENST00000525166.1_Silent_p.P1765P Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1915 Cadherin 17. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTGAGGTACCCCCTGAACTGA 0.418000 TCGA Ovarian(4;0.039) 25 3 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49928719 49928719 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr3:49928719G>A ENST00000296474.3 - 17 3582 c.3555C>T c.(3553-3555)ctC>ctT p.L1185L MST1R_ENST00000344206.4_Silent_p.L1136L NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1185 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CAAAGCTGATGAGGTCCTTCA 0.632000 64 4 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135020668 135020668 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr10:135020668G>A ENST00000304613.3 + 20 3628 c.3607G>A c.(3607-3609)Gag>Aag p.E1203K KNDC1_ENST00000368571.2_3'UTR|KNDC1_ENST00000368572.2_Missense_Mutation_p.E1205K Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1203 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CTGGGGCCTGGAGCCCTGCAC 0.657000 4 8 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 3 30 0 0 1 0 0 OR6S1 341799 broad.mit.edu 37 14 21108981 21108981 + Silent SNP T T C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr14:21108981T>C ENST00000320704.3 - 1 869 c.870A>G c.(868-870)ccA>ccG p.P290P NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) CATAGATGAATGGATTCAACA 0.433000 78 102 0 0 1 0 0 LRRC41 10489 broad.mit.edu 37 1 46746887 46746887 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:46746887G>A ENST00000343304.6 - 5 1951 c.1666C>T c.(1666-1668)Cgt>Tgt p.R556C LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 556 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TGGTCAACACGAATAGAGAGG 0.597000 34 66 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22272043 22272043 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:22272043C>T ENST00000594947.1 + 4 1635 c.1491C>T c.(1489-1491)aaC>aaT p.N497N NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 497 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) AAGCCTTTAACCGGTCTTCAC 0.393000 32 35 0 0 1 0 0 HS6ST3 266722 broad.mit.edu 37 13 96743176 96743176 + Silent SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr13:96743176C>G ENST00000376705.2 + 1 84 c.60C>G c.(58-60)gtC>gtG p.V20V NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 20 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) TCTTCGTGGTCATCATGTACC 0.697000 16 27 0 0 1 0 0 MASTL 84930 broad.mit.edu 37 10 27459681 27459681 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr10:27459681C>G ENST00000375946.4 + 8 2396 c.1793C>G c.(1792-1794)tCt>tGt p.S598C MASTL_ENST00000375940.4_Missense_Mutation_p.S598C|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.S598C NM_001172303.1|NM_032844.3 NP_001165774.1|NP_116233.2 Q96GX5 GWL_HUMAN microtubule associated serine/threonine kinase-like 598 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AAAGAATCCTCTTTTGAAGAA 0.368000 10 23 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13753602 13753602 + Missense_Mutation SNP A A C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:13753602A>C ENST00000265104.4 - 63 10716 c.10612T>G c.(10612-10614)Ttt>Gtt p.F3538V NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3538 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGATCACGAAACTCTTGGTTA 0.383000 Kartagener syndrome 33 95 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237756779 237756779 + Missense_Mutation SNP T T A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:237756779T>A ENST00000366574.2 + 33 4596 c.4279T>A c.(4279-4281)Tat>Aat p.Y1427N RYR2_ENST00000360064.6_Missense_Mutation_p.Y1425N|RYR2_ENST00000542537.1_Missense_Mutation_p.Y1411N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1427 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTCACAGTACTATTACTCAGT 0.388000 12 46 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131379988 131379988 + Missense_Mutation SNP G G T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:131379988G>T ENST00000358161.5 + 42 5540 c.5427G>T c.(5425-5427)aaG>aaT p.K1809N SPTAN1_ENST00000372731.4_Missense_Mutation_p.K1804N|SPTAN1_ENST00000372739.3_Missense_Mutation_p.K1809N Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1804 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 ACCTGAGGAAGAAGCACAAGC 0.597000 39 8 3.76604e-16 3.89298e-16 1 1 0 MTTP 4547 broad.mit.edu 37 4 100532349 100532349 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr4:100532349C>T ENST00000457717.1 + 14 2075 c.1819C>T c.(1819-1821)Cgt>Tgt p.R607C MTTP_ENST00000265517.5_Missense_Mutation_p.R607C|MTTP_ENST00000511045.1_Missense_Mutation_p.R634C|RP11-766F14.1_ENST00000508578.1_RNA NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 607 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CAATTATGACCGTTTCTCCAG 0.423000 26 46 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158585162 158585162 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:158585162C>T ENST00000368147.4 - 48 6812 c.6632G>A c.(6631-6633)cGt>cAt p.R2211H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GGTTAGTTGACGCTTCATCGC 0.483000 104 85 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76496330 76496330 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr15:76496330C>T ENST00000388942.3 + 11 1546 c.1270C>T c.(1270-1272)Cct>Tct p.P424S NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 424 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 TGAGCCCGGCCCTTCTCCCCC 0.701000 28 38 0 0 1 0 0 GIN1 54826 broad.mit.edu 37 5 102442494 102442494 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:102442494C>T ENST00000399004.2 - 3 353 c.259G>A c.(259-261)Ggt>Agt p.G87S GIN1_ENST00000508629.1_Missense_Mutation_p.G87S NM_017676.2 NP_060146.2 Q9NXP7 GIN1_HUMAN gypsy retrotransposon integrase 1 87 DNA integration DNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) CTGGATATACCATGATGAGCT 0.363000 16 8 0 0 1 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144077079 144077079 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr7:144077079G>A ENST00000056217.5 + 15 4898 c.4724G>A c.(4723-4725)cGt>cAt p.R1575H ARHGEF5_ENST00000471847.2_Missense_Mutation_p.R497H NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 1575 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) CCAGAGGTCCGTGCACAGAAC 0.572000 88 106 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139606405 139606405 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr8:139606405C>T ENST00000303045.6 - 63 4916 c.4470G>A c.(4468-4470)gcG>gcA p.A1490A COL22A1_ENST00000435777.1_Silent_p.A1470A|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1490 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ACTTCATGTACGCCGGGGGCA 0.602000 HNSCC(7;0.00092) 40 59 0 0 1 0 0 SLC24A2 25769 broad.mit.edu 37 9 19573435 19573435 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:19573435C>T ENST00000341998.2 - 6 1322 c.1261G>A c.(1261-1263)Gat>Aat p.D421N SLC24A2_ENST00000286344.3_Missense_Mutation_p.D404N NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 421 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) ATTTCAACATCTGTGCTGGTG 0.433000 48 16 0 0 1 0 0 SLC30A5 64924 broad.mit.edu 37 5 68404192 68404192 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:68404192G>C ENST00000396591.3 + 5 986 c.376G>C c.(376-378)Gag>Cag p.E126Q NM_022902.4 NP_075053.2 Q8TAD4 ZNT5_HUMAN solute carrier family 30 (zinc transporter), member 5 126 cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane zinc ion binding|zinc ion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) GCTGCTATTTGAGCACAGTGA 0.333000 15 14 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90421882 90421882 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr6:90421882G>A ENST00000369393.3 - 49 7639 c.7524C>T c.(7522-7524)taC>taT p.Y2508Y MDN1_ENST00000428876.1_Silent_p.Y2508Y Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2508 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CATCGATCCAGTAAGTATTCA 0.408000 94 115 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45247383 45247383 + Missense_Mutation SNP A A C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:45247383A>C ENST00000066544.3 - 4 370 c.277T>G c.(277-279)Tct>Gct p.S93A CDC27_ENST00000446365.2_Missense_Mutation_p.S32A|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.S93A|CDC27_ENST00000527547.1_Missense_Mutation_p.S93A NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 93 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 ACTCCACCAGATAAGATTTGT 0.313000 8 142 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57963097 57963097 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr12:57963097G>A ENST00000455537.2 + 10 1152 c.878G>A c.(877-879)gGg>gAg p.G293E KIF5A_ENST00000286452.5_Missense_Mutation_p.G204E NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 293 Kinesin-motor.|Microtubule-binding. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 GACTCTCTCGGGGGAAACTGC 0.478000 22 71 0 0 1 0 0 TRAV39 28642 broad.mit.edu 37 14 22771978 22771978 + RNA SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr14:22771978G>C ENST00000390466.1 + 0 40 GCTTCAACTAGACCGTGAGCT 0.448000 20 14 0 0 1 0 0 DESI2 51029 broad.mit.edu 37 1 244868861 244868861 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:244868861C>G ENST00000302550.11 + 5 734 c.355C>G c.(355-357)Ctt>Gtt p.L119V DESI2_ENST00000263831.7_Missense_Mutation_p.L86V NM_016076.3 NP_057160.2 Q9BSY9 PPDE1_HUMAN desumoylating isopeptidase 2 119 PPPDE peptidase. p.L119I(1) TCTGTAGATTCTTTGTGGGAA 0.522000 55 69 0 0 1 0 0 FBXO34 55030 broad.mit.edu 37 14 55817949 55817949 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr14:55817949G>C ENST00000313833.4 + 2 1086 c.841G>C c.(841-843)Gac>Cac p.D281H FBXO34_ENST00000440021.1_Missense_Mutation_p.D281H NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 281 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 CCGTGTCCTTGACATGGTAGC 0.552000 88 81 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430101 43430101 + RNA SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:43430101G>A ENST00000446844.3 - 0 1156 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GTTAGAGTCCGCAAAGCAGGA 0.448000 5 356 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49927946 49927946 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr3:49927946G>A ENST00000296474.3 - 18 3809 c.3782C>T c.(3781-3783)aCc>aTc p.T1261I MST1R_ENST00000344206.4_Missense_Mutation_p.T1212I NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1261 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) AAATCTATAGGTCTGCAGGCT 0.572000 36 2 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15752761 15752761 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr3:15752761C>T ENST00000399451.2 - 12 1571 c.1204G>A c.(1204-1206)Gat>Aat p.D402N ANKRD28_ENST00000383777.1_Missense_Mutation_p.D435N|ANKRD28_ENST00000497037.1_5'UTR NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 402 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 CCAAAATCATCTGGGGTATCT 0.328000 51 6 0 0 1 0 0 GFPT1 2673 broad.mit.edu 37 2 69575328 69575328 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:69575328C>T ENST00000357308.4 - 11 1162 c.984G>A c.(982-984)caG>caA p.Q328Q GFPT1_ENST00000361060.5_Silent_p.Q310Q NM_001244710.1 NP_001231639.1 Q06210 GFPT1_HUMAN glutamine--fructose-6-phosphate transaminase 1 328 dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 GGAGTTCCATCTGGAGTGTTT 0.428000 75 73 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49929255 49929255 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr3:49929255G>A ENST00000296474.3 - 15 3315 c.3288C>T c.(3286-3288)gtC>gtT p.V1096V MST1R_ENST00000344206.4_Silent_p.V1047V NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1096 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CTCCGTGGTAGACAACTCCAA 0.532000 129 11 0 0 1 0 0 SLC9A5 6553 broad.mit.edu 37 16 67289057 67289057 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr16:67289057C>T ENST00000299798.11 + 3 689 c.624C>T c.(622-624)ggC>ggT p.G208G SLC9A5_ENST00000561472.2_3'UTR NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 208 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) TCGTCTTTGGCGAGTCCCTGC 0.592000 67 72 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16883020 16883020 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr10:16883020C>T ENST00000377833.4 - 61 9755 c.9690G>A c.(9688-9690)gcG>gcA p.A3230A NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3230 CUB 24. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAGCCAAGTTCGCATTTTCAC 0.368000 14 15 0 0 1 0 0 LMBRD1 55788 broad.mit.edu 37 6 70447864 70447864 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr6:70447864C>G ENST00000370577.3 - 7 835 c.606G>C c.(604-606)ttG>ttC p.L202F LMBRD1_ENST00000370570.1_Missense_Mutation_p.L129F NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 202 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 ACATTCCAATCAAGGTCAGAG 0.289000 12 13 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838384 16838384 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:16838384C>T ENST00000355661.3 - 11 1839 c.1829G>A c.(1828-1830)gGg>gAg p.G610E PLEKHA7_ENST00000448080.2_Missense_Mutation_p.G610E|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.G610E Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 610 Interaction with CTNND1. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TGGAGAATCCCCCAGCGAGAT 0.657000 49 5 0 0 1 0 0 TOR1B 27348 broad.mit.edu 37 9 132565654 132565654 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:132565654G>A ENST00000259339.2 + 1 223 c.163G>A c.(163-165)Gag>Aag p.E55K TOR1B_ENST00000486372.1_3'UTR NM_014506.1 NP_055321.1 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) 55 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding endometrium(3)|kidney(1)|large_intestine(1)|lung(7) 12 Ovarian(14;0.0586) CCGCTTCGCCGAGTGCTGCCG 0.746000 21 2 0 0 1 0 0 MS4A12 54860 broad.mit.edu 37 11 60264894 60264894 + Missense_Mutation SNP G G T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:60264894G>T ENST00000016913.4 + 2 160 c.103G>T c.(103-105)Ggt>Tgt p.G35C MS4A12_ENST00000537076.1_Missense_Mutation_p.G35C|MS4A12_ENST00000525951.1_3'UTR NM_017716.2 NP_060186.2 Q9NXJ0 M4A12_HUMAN membrane-spanning 4-domains, subfamily A, member 12 35 integral to membrane receptor activity breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2) 17 ACAGCCTCTGGGTTCAATCAA 0.507000 80 86 4.81439e-37 5.03323e-37 1 1 0 HPN 3249 broad.mit.edu 37 19 35551678 35551678 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:35551678C>T ENST00000262626.2 + 9 1593 c.768C>T c.(766-768)aaC>aaT p.N256N HPN_ENST00000392226.1_Silent_p.N256N|HPN_ENST00000597419.1_Silent_p.N98N|HPN-AS1_ENST00000392227.2_RNA NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin 256 Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) AGAACAGCAACGATATTGCCC 0.637000 19 105 0 0 1 0 0 ZNF649 65251 broad.mit.edu 37 19 52394437 52394437 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:52394437G>C ENST00000354957.3 - 5 1236 c.952C>G c.(952-954)Cat>Gat p.H318D ZNF649_ENST00000600738.1_Missense_Mutation_p.H290D|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CTGCATGTATGAGGCTTCTCT 0.453000 27 37 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 75 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103305851 103305851 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr8:103305851G>A ENST00000520539.1 - 34 5177 c.4571C>T c.(4570-4572)tCa>tTa p.S1524L UBR5_ENST00000519528.1_5'UTR|UBR5_ENST00000521922.1_Missense_Mutation_p.S1518L|UBR5_ENST00000220959.4_Missense_Mutation_p.S1524L NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1524 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CTGATCAGATGATGGTCGTGG 0.443000 36 64 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110238434 110238434 + Missense_Mutation SNP T T C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr12:110238434T>C ENST00000418703.2 - 4 936 c.842A>G c.(841-843)tAc>tGc p.Y281C TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000536838.1_Missense_Mutation_p.Y247C|TRPV4_ENST00000346520.2_Missense_Mutation_p.Y281C|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000537083.1_Missense_Mutation_p.Y281C|TRPV4_ENST00000261740.2_Missense_Mutation_p.Y281C NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 281 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 AAAGTAGAAGTAGCCCCCCTC 0.612000 61 28 0 0 1 0 0 DBT 1629 broad.mit.edu 37 1 100701061 100701061 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:100701061C>T ENST00000370132.4 - 3 195 c.182G>A c.(181-183)cGt>cAt p.R61H DBT_ENST00000370131.3_Missense_Mutation_p.R61H NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) AACCTGTCCACGGAGAGCTTC 0.333000 8 72 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147844772 147844772 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr7:147844772G>A ENST00000361727.3 + 17 3260 c.2744G>A c.(2743-2745)cGc>cAc p.R915H CNTNAP2_ENST00000538075.1_5'UTR NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 915 Laminin G-like 3. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.R915H(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGCCACACCCGCCTGGAGCTC 0.522000 HNSCC(39;0.1) 55 53 0 0 1 0 0 ALX4 60529 broad.mit.edu 37 11 44296955 44296955 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:44296955G>A ENST00000329255.3 - 2 823 c.720C>T c.(718-720)gaC>gaT p.D240D NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 240 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 GCGCATACACGTCTGGGTAGT 0.617000 106 13 0 0 1 0 0 TMCC2 9911 broad.mit.edu 37 1 205210828 205210828 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:205210828G>A ENST00000358024.3 + 2 792 c.403G>A c.(403-405)Gcc>Acc p.A135T TMCC2_ENST00000545499.1_Missense_Mutation_p.A57T|TMCC2_ENST00000495538.1_3'UTR NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 135 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CGTCTCCTACGCCATGTCCCT 0.662000 19 35 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187626350 187626350 + Missense_Mutation SNP A A T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:187626350A>T ENST00000304698.5 + 8 1484 c.1281A>T c.(1279-1281)ttA>ttT p.L427F NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 427 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AGTCGCAGTTATTCAATGCCA 0.383000 52 46 0 0 1 0 0 PABPC5 140886 broad.mit.edu 37 X 90691635 90691635 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chrX:90691635G>A ENST00000312600.3 + 2 1273 c.1059G>A c.(1057-1059)gaG>gaA p.E353E PABPC5_ENST00000373105.1_Silent_p.E189E NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 353 RRM 4. cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 CTTTTGAAGAGGCTACCAAAG 0.517000 29 2 0 0 1 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46053301 46053301 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:46053301G>A ENST00000536708.2 + 8 904 c.795G>A c.(793-795)gaG>gaA p.E265E CDK5RAP3_ENST00000338399.4_Silent_p.E240E NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 240 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 CGGTGTACGAGTGGAGGACAG 0.587000 46 84 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140201632 140201632 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:140201632G>A ENST00000529859.1 + 1 272 c.272G>A c.(271-273)cGg>cAg p.R91Q PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R91Q|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R91Q|PCDHA1_ENST00000504120.2_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGATCGACCGGGAGGAGCTG 0.622000 13 243 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912861 77912861 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chrX:77912861C>T ENST00000321110.1 - 2 1352 c.1057G>A c.(1057-1059)Gat>Aat p.D353N NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 353 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GTGCTTTCATCCCAGTTCAGC 0.473000 20 3 0 0 1 0 0 OR2T8 343172 broad.mit.edu 37 1 248084484 248084484 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:248084484G>A ENST00000319968.4 + 1 165 c.165G>A c.(163-165)acG>acA p.T55T NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGCTCCACACGCCCATGTACT 0.522000 62 95 0 0 1 0 0 SERINC3 10955 broad.mit.edu 37 20 43142655 43142655 + Silent SNP T T C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr20:43142655T>C ENST00000342374.4 - 2 223 c.66A>G c.(64-66)tcA>tcG p.S22S SERINC3_ENST00000255175.1_Silent_p.S22S|SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000468234.1_5'UTR NM_006811.2 NP_006802.1 Q13530 SERC3_HUMAN serine incorporator 3 22 integral to membrane|plasma membrane protein binding endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) ACAGCAAACATGAGGCACCGC 0.488000 84 49 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26627912 26627912 + Missense_Mutation SNP G G T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr8:26627912G>T ENST00000380573.3 - 3 2178 c.1155C>A c.(1153-1155)ttC>ttA p.F385L ADRA1A_ENST00000519229.1_Missense_Mutation_p.F385L|ADRA1A_ENST00000354550.4_Missense_Mutation_p.F385L|ADRA1A_ENST00000380582.3_Missense_Mutation_p.F385L|ADRA1A_ENST00000276393.4_Missense_Mutation_p.F385L|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Missense_Mutation_p.F385L P35348 ADA1A_HUMAN adrenoceptor alpha 1A 385 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) AGATCCTGTAGAAGGTCTCTC 0.557000 106 118 3.33393e-45 3.50539e-45 1 1 0 ZNF277 11179 broad.mit.edu 37 7 111981066 111981066 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr7:111981066G>A ENST00000361822.3 + 11 1278 c.1149G>A c.(1147-1149)tcG>tcA p.S383S AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA NM_021994.2 NP_068834.2 Q9NRM2 ZN277_HUMAN zinc finger protein 277 383 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 15 AACACACTTCGCTGCTCCCCG 0.423000 44 50 0 0 1 0 0 TRAV21 28662 broad.mit.edu 37 14 22521050 22521050 + RNA SNP C C T rs144813465 by1000genomes TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr14:22521050C>T ENST00000390449.3 + 0 78 CAGGAGGTGACGCAGATTCCT 0.423000 63 69 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 734746 734746 + Splice_Site SNP A A G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:734746A>G ENST00000382303.1 + 11 3897 c.e11-1 KANK1_ENST00000382293.3_Splice_Site|KANK1_ENST00000382297.2_Splice_Site|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTCTCCTTTCAGGTATGAATT 0.338000 38 29 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723603 49723603 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr3:49723603G>A ENST00000449682.2 - 9 1400 c.1039C>T c.(1039-1041)Cgg>Tgg p.R347W MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 333 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.R333W(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCGGGGTTCCGGCAGAAGTTC 0.662000 3 26 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188366 152188366 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:152188366G>A ENST00000368801.2 - 3 5814 c.5739C>T c.(5737-5739)caC>caT p.H1913H FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1913 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGCTAGATCCGTGTTGTTCAC 0.557000 194 3210 0 0 1 0 0 TOR1B 27348 broad.mit.edu 37 9 132565666 132565666 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:132565666G>A ENST00000259339.2 + 1 235 c.175G>A c.(175-177)Gag>Aag p.E59K TOR1B_ENST00000486372.1_3'UTR NM_014506.1 NP_055321.1 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) 59 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding endometrium(3)|kidney(1)|large_intestine(1)|lung(7) 12 Ovarian(14;0.0586) GTGCTGCCGCGAGGAGCGGCC 0.746000 20 3 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23908464 23908464 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr13:23908464C>T ENST00000382298.3 - 10 10139 c.9551G>A c.(9550-9552)cGc>cAc p.R3184H SACS_ENST00000402364.1_Missense_Mutation_p.R2434H|SACS_ENST00000382292.3_Missense_Mutation_p.R3184H NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3184 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CAAGTCTTTGCGGGATGGAAT 0.343000 11 13 0 0 1 0 0 KCNAB2 8514 broad.mit.edu 37 1 6158568 6158568 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:6158568C>T ENST00000164247.1 + 16 1602 c.1038C>T c.(1036-1038)tcC>tcT p.S346S KCNAB2_ENST00000378083.3_Silent_p.S394S|KCNAB2_ENST00000458166.2_Silent_p.S279S|KCNAB2_ENST00000378092.1_Silent_p.S332S|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000352527.1_Silent_p.S332S|KCNAB2_ENST00000602612.1_3'UTR|KCNAB2_ENST00000378097.1_Silent_p.S346S|KCNAB2_ENST00000341524.1_Silent_p.S346S NM_001199860.1 NP_001186789.1 Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 2 346 cytoplasm|integral to membrane|juxtaparanode region of axon oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity large_intestine(1)|lung(4)|skin(3) 8 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649) TGTCATCTTCCATTATCCACG 0.537000 17 30 0 0 1 0 0 NKX6-3 157848 broad.mit.edu 37 8 41504183 41504183 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr8:41504183G>A ENST00000524115.2 - 2 196 c.193C>T c.(193-195)Cgg>Tgg p.R65W NM_152568.2 NP_689781.1 A6NJ46 NKX63_HUMAN NK6 homeobox 3 195 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1) 1 Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTCTTCTTCCGCCACTTGGTC 0.697000 5 9 0 0 1 0 0 BUD13 84811 broad.mit.edu 37 11 116633513 116633513 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:116633513G>A ENST00000260210.4 - 4 815 c.792C>T c.(790-792)ctC>ctT p.L264L BUD13_ENST00000375445.3_Intron NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 264 Arg-rich. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) GGGCCCTTCTGAGTTGCTGTG 0.517000 140 14 0 0 1 0 0 MCRS1 10445 broad.mit.edu 37 12 49957275 49957275 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr12:49957275C>G ENST00000550165.1 - 8 878 c.612G>C c.(610-612)caG>caC p.Q204H MCRS1_ENST00000357123.4_Missense_Mutation_p.Q217H|MCRS1_ENST00000343810.4_Missense_Mutation_p.Q204H|MCRS1_ENST00000546244.1_Missense_Mutation_p.Q13H Q96EZ8 MCRS1_HUMAN microspherule protein 1 204 DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|MLL1 complex|nucleolus protein binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11) 23 GGGCCTTGCTCTGGATGGCTG 0.597000 6 13 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79205678 79205678 + Missense_Mutation SNP T T C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr4:79205678T>C ENST00000264895.6 + 13 1815 c.1375T>C c.(1375-1377)Tac>Cac p.Y459H FRAS1_ENST00000325942.6_Missense_Mutation_p.Y459H|FRAS1_ENST00000264899.6_Missense_Mutation_p.Y459H NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 459 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ACTGGGTTTTTACCAAGCTGG 0.488000 53 82 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36492872 36492872 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:36492872G>A ENST00000342292.4 - 4 1236 c.1216C>T c.(1216-1218)Cgc>Tgc p.R406C NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 406 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TTGTTCCGGCGGCAGCGGTAG 0.612000 9 11 0 0 1 0 0 PKIG 11142 broad.mit.edu 37 20 43243262 43243262 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr20:43243262C>T ENST00000372889.1 + 5 650 c.65C>T c.(64-66)gCg>gTg p.A22V PKIG_ENST00000372892.3_Missense_Mutation_p.A22V|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000477390.1_3'UTR|PKIG_ENST00000372887.1_Missense_Mutation_p.A22V|PKIG_ENST00000372891.3_Missense_Mutation_p.A22V|PKIG_ENST00000372882.3_Missense_Mutation_p.A22V|PKIG_ENST00000349959.3_Missense_Mutation_p.A22V|PKIG_ENST00000372886.1_Missense_Mutation_p.A22V|PKIG_ENST00000372894.3_Missense_Mutation_p.A22V NM_001281444.1 NP_001268373.1 Q9Y2B9 IPKG_HUMAN protein kinase (cAMP-dependent, catalytic) inhibitor gamma 22 cAMP-dependent protein kinase inhibitor activity|protein binding breast(1)|urinary_tract(1) 2 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189) CGTCGGAATGCGGTCCCTGAC 0.627000 4 191 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43495459 43495459 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr6:43495459C>T ENST00000265351.7 - 26 3043 c.2833G>A c.(2833-2835)Gag>Aag p.E945K POLR1C_ENST00000304004.3_Intron NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 945 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) TCTGCAGCCTCATCTTCTCCA 0.507000 35 44 0 0 1 0 0 MEGF6 1953 broad.mit.edu 37 1 3417236 3417236 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:3417236G>A ENST00000356575.4 - 21 2894 c.2668C>T c.(2668-2670)Ctg>Ttg p.L890L MEGF6_ENST00000294599.4_Silent_p.L785L NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 890 EGF-like 15. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCCTCACACAGACACAGGCCG 0.657000 4 7 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198281605 198281605 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:198281605C>T ENST00000335508.6 - 6 617 c.526G>A c.(526-528)Gct>Act p.A176T NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) CCAGCTTTAGCTTTTTCTGCT 0.423000 Mis myelodysplastic syndrome 54 125 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97779652 97779652 + Missense_Mutation SNP A A G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:97779652A>G ENST00000420699.2 + 1 420 c.176A>G c.(175-177)aAt>aGt p.N59S ANKRD36_ENST00000461153.2_Missense_Mutation_p.N59S NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 59 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 TATGACGCCAATAAGAGAGAC 0.527000 30 27 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43934541 43934541 + Splice_Site SNP A A T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:43934541A>T ENST00000282406.4 + 11 1933 c.1823A>T c.(1822-1824)aAg>aTg p.K608M NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 608 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTTCTTTAGAAGGCGACCCAA 0.488000 4 137 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr4:1803568C>G ENST00000340107.4 + 7 1002 c.746C>G c.(745-747)tCc>tGc p.S249C FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 249 S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1204)|p.R248_S249del(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.736000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 20 11 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 29012388 29012388 + Silent SNP C C T rs116486684 by1000genomes TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr13:29012388C>T ENST00000282397.4 - 4 734 c.483G>A c.(481-483)acG>acA p.T161T FLT1_ENST00000539099.1_Silent_p.T161T|FLT1_ENST00000541932.1_Silent_p.T161T NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 161 Ig-like C2-type 2. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TGTTAGGTGACGTAACCCGGC 0.398000 11 11 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27126006 27126006 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr15:27126006C>T ENST00000335625.5 + 4 988 c.100C>T c.(100-102)Cca>Tca p.P34S GABRA5_ENST00000400081.3_Missense_Mutation_p.P34S|GABRA5_ENST00000355395.5_Missense_Mutation_p.P34S|GABRA5_ENST00000557449.1_3'UTR|GABRB3_ENST00000541819.2_Intron NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 34 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTCACAGATGCCAACCAGTTC 0.418000 21 39 0 0 1 0 0 PABPC3 5042 broad.mit.edu 37 13 25671775 25671775 + Nonsense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr13:25671775C>G ENST00000281589.3 + 1 1476 c.1439C>G c.(1438-1440)tCa>tGa p.S480* NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 480 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GCTAACACATCAACACAGACA 0.552000 31 55 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228399647 228399647 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:228399647C>T ENST00000570156.2 + 2 237 c.163C>T c.(163-165)Cgc>Tgc p.R55C C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.R55C|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R55C NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 55 Ig-like 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGCCGGCGCGCGCTTCCGTCT 0.687000 11 6 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5212395 5212395 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:5212395G>A ENST00000372412.4 - 31 4958 c.4725C>T c.(4723-4725)gtC>gtT p.V1575V PTPRS_ENST00000348075.2_Silent_p.V1536V|PTPRS_ENST00000588012.1_Silent_p.V1536V|PTPRS_ENST00000592099.1_Silent_p.V1127V|PTPRS_ENST00000357368.4_Silent_p.V1574V|PTPRS_ENST00000262963.6_Silent_p.V1554V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Silent_p.V1574V|PTPRS_ENST00000353284.2_Silent_p.V1127V Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1574 Tyrosine-protein phosphatase 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TGCAGGTCTTGACTCTCCGCA 0.662000 6 27 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223984287 223984287 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:223984287C>T ENST00000391878.2 - 14 2335 c.1567G>A c.(1567-1569)Ggt>Agt p.G523S TP53BP2_ENST00000343537.7_Missense_Mutation_p.G652S|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_5'UTR NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 646 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) ACAGGCTTACCATATACTAAT 0.398000 34 77 0 0 1 0 0 TRIM25 7706 broad.mit.edu 37 17 54969173 54969173 + Missense_Mutation SNP G G T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:54969173G>T ENST00000316881.4 - 9 1830 c.1781C>A c.(1780-1782)gCc>gAc p.A594D TRIM25_ENST00000537230.1_Missense_Mutation_p.A594D|RP11-670E13.5_ENST00000574826.1_RNA NM_005082.4 NP_005073.2 Q14258 TRI25_HUMAN tripartite motif containing 25 594 B30.2/SPRY. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) GACCTTGTCGGCAACAGCGAA 0.542000 25 28 4.4004e-07 4.47334e-07 1 1 0 SPTAN1 6709 broad.mit.edu 37 9 131381226 131381226 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:131381226G>A ENST00000358161.5 + 44 5790 c.5677G>A c.(5677-5679)Gag>Aag p.E1893K SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1888K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1893K Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1888 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 CTGGATCAATGAGAAAATGAC 0.498000 37 6 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716716 13716716 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr12:13716716G>A ENST00000609686.1 - 13 3665 c.3456C>T c.(3454-3456)acC>acT p.T1152T NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGTAGATGTCGGTCAGGTCTA 0.577000 66 33 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81110945 81110945 + Nonsense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr12:81110945C>T ENST00000228644.3 + 1 255 c.103C>T c.(103-105)Cga>Tga p.R35* NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 35 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 GTTTGTGCCGCGAGTGGCTGC 0.622000 46 19 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60913289 60913289 + Splice_Site SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr20:60913289C>T ENST00000252999.3 - 13 1821 c.1755G>A c.(1753-1755)caG>caA p.Q585Q NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 585 Laminin EGF-like 5. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCACTCACACTGGCAGAGAG 0.672000 18 23 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38051478 38051478 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr4:38051478G>C ENST00000261439.4 + 11 2224 c.1869G>C c.(1867-1869)atG>atC p.M623I TBC1D1_ENST00000508802.1_Missense_Mutation_p.M623I NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 623 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 GGAAACTTATGAGGTATCACT 0.507000 124 56 0 0 1 0 0 GSDMA 284110 broad.mit.edu 37 17 38133155 38133155 + Silent SNP C C T rs138595723 by1000genomes TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:38133155C>T ENST00000301659.4 + 12 1300 c.1182C>T c.(1180-1182)gaC>gaT p.D394D NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 394 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 CCCTTGGGGACGAGGAGCTGA 0.597000 24 104 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56342246 56342246 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:56342246G>A ENST00000262290.4 + 10 1746 c.1430G>A c.(1429-1431)cGc>cAc p.R477H LPO_ENST00000421678.2_Missense_Mutation_p.R394H|LPO_ENST00000582328.1_Missense_Mutation_p.R394H|LPO_ENST00000543544.1_Missense_Mutation_p.R418H NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 477 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 AGTATGTTCCGCCTGGATGAG 0.512000 32 43 0 0 1 0 0 SOWAHA 134548 broad.mit.edu 37 5 132150606 132150606 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:132150606G>A ENST00000378693.2 + 1 1574 c.1293G>A c.(1291-1293)tcG>tcA p.S431S NM_175873.4 NP_787069.3 Q2M3V2 ANR43_HUMAN sosondowah ankyrin repeat domain family member A 431 CCGGCTCCTCGTACGCGCTGC 0.706000 6 7 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55815073 55815073 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:55815073C>T ENST00000309383.1 + 12 1442 c.1165C>T c.(1165-1167)Cgt>Tgt p.R389C BRSK1_ENST00000590333.1_Missense_Mutation_p.R405C|BRSK1_ENST00000326848.7_Missense_Mutation_p.R84C NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 389 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CATGCTGAGCCGTCACGGGAA 0.612000 61 82 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076790 9076790 + Silent SNP A A T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:9076790A>T ENST00000397910.4 - 3 10859 c.10656T>A c.(10654-10656)acT>acA p.T3552T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3553 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGGTGTGGTAGTTGAGATTG 0.547000 90 131 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70504295 70504295 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:70504295G>A ENST00000310961.5 + 22 3107 c.2689G>A c.(2689-2691)Gta>Ata p.V897I LRRC7_ENST00000415775.2_Missense_Mutation_p.V176I|LRRC7_ENST00000035383.5_Missense_Mutation_p.V892I Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 892 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TTCTCCAGGCGTACCATGGGA 0.423000 48 82 0 0 1 0 0 XPA 7507 broad.mit.edu 37 9 100459547 100459547 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:100459547C>T ENST00000375128.4 - 1 92 c.28G>A c.(28-30)Gag>Aag p.E10K NM_000380.3 NP_000371.1 P23025 XPA_HUMAN xeroderma pigmentosum, complementation group A 10 Interaction with CEP164 and required for UV resistance. nucleotide-excision repair, DNA damage removal nucleoplasm damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1) 11 Acute lymphoblastic leukemia(62;0.158) GCCGCCGCCTCCGGCAAAGCC 0.736000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 21 20 0 0 1 0 0 KPNA5 3841 broad.mit.edu 37 6 117045538 117045538 + Splice_Site SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr6:117045538G>A ENST00000368564.1 + 10 1147 c.999G>A c.(997-999)caG>caA p.Q333Q KPNA5_ENST00000356348.1_Splice_Site_p.Q333Q O15131 IMA5_HUMAN karyopherin alpha 5 (importin alpha 6) 330 NLS binding site (minor) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) TTCAAACACAGGTGAGTTCAA 0.279000 14 30 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141244 114141244 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chrX:114141244G>A ENST00000276198.1 + 6 1371 c.643G>A c.(643-645)Gtt>Att p.V215I HTR2C_ENST00000371950.3_Missense_Mutation_p.R183H|HTR2C_ENST00000371951.1_Missense_Mutation_p.V215I NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 215 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity p.V215I(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) CCCAAATTTCGTTCTTATTGG 0.468000 191 15 0 0 1 0 0 ALKBH5 54890 broad.mit.edu 37 17 18088053 18088053 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:18088053G>A ENST00000399138.4 + 1 501 c.496G>A c.(496-498)Gag>Aag p.E166K RP11-258F1.1_ENST00000583062.1_RNA|ALKBH5_ENST00000541285.1_Intron NM_017758.3 NP_060228.3 Q6P6C2 ALKB5_HUMAN alkB, alkylation repair homolog 5 (E. coli) 166 integral to membrane metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1) 10 all_neural(463;0.228) CGAGATCCCCGAGTGGGTGCA 0.672000 45 3 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13409644 13409644 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:13409644G>A ENST00000360228.5 - 19 2802 c.2803C>T c.(2803-2805)Cgg>Tgg p.R935W CACNA1A_ENST00000573710.2_Missense_Mutation_p.R936W NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 936 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CCCCCCTGCCGGTGCACGTGC 0.781000 16 20 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95497802 95497802 + RNA SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:95497802G>C ENST00000432432.2 - 0 1041 NR_040113.1 CGAAGGTCCAGGTAAAGGCTC 0.388000 6 271 0 0 1 0 0 MBD4 8930 broad.mit.edu 37 3 129150350 129150350 + Silent SNP T T C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr3:129150350T>C ENST00000429544.2 - 8 1914 c.1719A>G c.(1717-1719)ctA>ctG p.L573L MBD4_ENST00000503197.1_3'UTR|MBD4_ENST00000249910.1_Silent_p.L579L|MBD4_ENST00000393278.2_Silent_p.L261L NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 579 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 GAGTTTAAGATAGACTTAATT 0.368000 Base excision repair (BER), DNA glycosylases 125 9 0 0 1 0 0 ATF6 22926 broad.mit.edu 37 1 161789557 161789557 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:161789557G>A ENST00000367942.3 + 8 1111 c.1044G>A c.(1042-1044)ctG>ctA p.L348L NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 348 Leucine-zipper. positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) ACGAGCAACTGAAGAAAGAAA 0.448000 19 27 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160769712 160769712 + Translation_Start_Site SNP T T A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:160769712T>A ENST00000368040.1 + 0 344 LY9_ENST00000368037.5_Silent_p.I98I|LY9_ENST00000368039.2_Silent_p.I98I|LY9_ENST00000341032.4_Silent_p.I98I|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Silent_p.I58I|LY9_ENST00000392203.4_Silent_p.I98I|LY9_ENST00000263285.6_Silent_p.I98I Q9HBG7 LY9_HUMAN lymphocyte antigen 9 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ATGTAACCATTATGGTCAAAA 0.468000 70 90 0 0 1 0 0 VCP 7415 broad.mit.edu 37 9 35061086 35061086 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:35061086G>A ENST00000358901.6 - 11 2180 c.1285C>T c.(1285-1287)Ctc>Ttc p.L429F NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 429 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AGGTCAATGAGATCCATCTTC 0.537000 139 131 0 0 1 0 0 TUBA8 51807 broad.mit.edu 37 22 18609175 18609175 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr22:18609175G>A ENST00000330423.3 + 4 503 c.430G>A c.(430-432)Ggc>Agc p.G144S TUBA8_ENST00000316027.6_Missense_Mutation_p.G78S NM_018943.2 NP_061816.1 Q9NY65 TBA8_HUMAN tubulin, alpha 8 144 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 TTTTGGTGGGGGCACTGGCTC 0.537000 4 196 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43176836 43176836 + Missense_Mutation SNP A A C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr21:43176836A>C ENST00000352483.2 - 2 387 c.323T>G c.(322-324)cTg>cGg p.L108R RIPK4_ENST00000332512.3_Missense_Mutation_p.L108R|RIPK4_ENST00000542057.1_Missense_Mutation_p.L45R|RIPK4_ENST00000544709.1_Missense_Mutation_p.L45R Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 108 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CTCCGAAGCCAGCAGCTTTTC 0.602000 49 50 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179579099 179579099 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:179579099G>A ENST00000589042.1 - 91 26626 c.26402C>T c.(26401-26403)cCa>cTa p.P8801L TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P7557L|TTN_ENST00000591111.1_Missense_Mutation_p.P8484L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8484 Ig-like 71. 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) AGCATTGGCTGGTTCCACTCT 0.403000 65 32 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr7:72658179T>C ENST00000425256.1 - 0 1732 cagagtgatttcggatgaatt 0.507000 5 116 0 0 1 0 0 PPME1 51400 broad.mit.edu 37 11 73958134 73958134 + Silent SNP A A G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:73958134A>G ENST00000328257.8 + 11 1298 c.975A>G c.(973-975)agA>agG p.R325R PPME1_ENST00000398427.4_Silent_p.R339R|PPME1_ENST00000543525.1_Silent_p.R138R|P4HA3_ENST00000540363.1_Intron Q9Y570 PPME1_HUMAN protein phosphatase methylesterase 1 325 protein demethylation carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(2) 5 Breast(11;3.29e-05) GTGTTGATAGATTGGATAAAG 0.348000 15 17 0 0 1 0 0 RFX7 64864 broad.mit.edu 37 15 56388173 56388173 + Missense_Mutation SNP C C T rs140370063 by1000genomes TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr15:56388173C>T ENST00000423270.1 - 9 1752 c.1753G>A c.(1753-1755)Gaa>Aaa p.E585K RFX7_ENST00000317318.6_Missense_Mutation_p.E585K|RFX7_ENST00000559447.2_Missense_Mutation_p.E488K|RFX7_ENST00000422057.1_Missense_Mutation_p.E488K NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 488 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 ATGACACCTTCATTTGAAGGT 0.458000 21 14 0 0 1 0 0 PTRF 284119 broad.mit.edu 37 17 40556892 40556892 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr17:40556892C>T ENST00000357037.5 - 2 1405 c.986G>A c.(985-987)cGc>cAc p.R329H NM_012232.5 NP_036364.2 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 329 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) CTGGCCCTCGCGGATCTTCTT 0.677000 24 66 0 0 1 0 0 ZNF792 126375 broad.mit.edu 37 19 35451871 35451871 + Missense_Mutation SNP T T C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr19:35451871T>C ENST00000404801.1 - 2 447 c.61A>G c.(61-63)Att>Gtt p.I21V NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 21 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GAGAAGTAAATGGTCACGTCC 0.547000 76 102 0 0 1 0 0 FCRL2 79368 broad.mit.edu 37 1 157739894 157739894 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr1:157739894G>A ENST00000361516.3 - 4 405 c.357C>T c.(355-357)atC>atT p.I119I FCRL2_ENST00000392274.3_Silent_p.I119I|FCRL2_ENST00000368181.4_Intron NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 119 Ig-like C2-type 2. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GACCCCCTTCGATGGGCTGGA 0.527000 40 41 0 0 1 0 0 SIRT5 23408 broad.mit.edu 37 6 13588578 13588578 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr6:13588578G>A ENST00000606117.1 + 4 427 c.131G>A c.(130-132)cGa>cAa p.R44Q SIRT5_ENST00000379262.4_Missense_Mutation_p.R44Q|SIRT5_ENST00000397350.2_Intron|SIRT5_ENST00000359782.3_Missense_Mutation_p.R44Q NM_012241.4 NP_036373.1 Q9NXA8 SIRT5_HUMAN sirtuin 5 44 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding p.R44Q(2) breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) GCAGATTTTCGAAAGTTTTTT 0.403000 35 32 0 0 1 0 0 FAM151B 167555 broad.mit.edu 37 5 79837636 79837636 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr5:79837636C>G ENST00000282226.4 + 6 971 c.816C>G c.(814-816)atC>atG p.I272M FAM151B_ENST00000511718.1_3'UTR NM_205548.2 NP_991111.2 Q6UXP7 F151B_HUMAN family with sequence similarity 151, member B 272 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 7 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36) CCATTGGAATCAAAGTTAATC 0.299000 12 9 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45247383 45247383 + Missense_Mutation SNP A A C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr17:45247383A>C ENST00000066544.3 - 4 370 c.277T>G c.(277-279)Tct>Gct p.S93A CDC27_ENST00000528748.1_5'UTR|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Missense_Mutation_p.S93A|CDC27_ENST00000446365.2_Missense_Mutation_p.S32A|CDC27_ENST00000527547.1_Missense_Mutation_p.S93A NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 93 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 ACTCCACCAGATAAGATTTGT 0.313000 8 142 0 0 1 0 0 LPIN1 23175 broad.mit.edu 37 2 11911614 11911614 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr2:11911614G>A ENST00000256720.2 + 4 498 c.405G>A c.(403-405)acG>acA p.T135T LPIN1_ENST00000449576.2_Silent_p.T184T|LPIN1_ENST00000396098.1_Silent_p.T141T|LPIN1_ENST00000396099.1_Silent_p.T141T|LPIN1_ENST00000425416.2_Silent_p.T141T NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 135 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) ACCCCAGCACGCCAGCCCAAG 0.567000 12 61 0 0 1 0 0 ACSL1 2180 broad.mit.edu 37 4 185684329 185684329 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr4:185684329C>T ENST00000515030.1 - 16 1838 c.1513G>A c.(1513-1515)Gag>Aag p.E505K ACSL1_ENST00000513317.1_Missense_Mutation_p.E505K|ACSL1_ENST00000454703.2_Missense_Mutation_p.E334K|ACSL1_ENST00000507295.1_Missense_Mutation_p.E471K|ACSL1_ENST00000281455.2_Missense_Mutation_p.E505K|ACSL1_ENST00000437665.3_Missense_Mutation_p.E334K|ACSL1_ENST00000504342.1_Missense_Mutation_p.E505K P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 505 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ACCTCGCCCTCGCCCTCGGCA 0.478000 8 21 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178063703 178063703 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr1:178063703G>A ENST00000448150.3 + 1 840 c.22G>A c.(22-24)Gac>Aac p.D8N RASAL2_ENST00000367649.3_Missense_Mutation_p.D26N NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 0 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 GCTGGAGTCCGACTCGCCGCT 0.706000 11 6 0 0 1 0 0 CDC7 8317 broad.mit.edu 37 1 91967356 91967356 + Nonsense_Mutation SNP T T A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr1:91967356T>A ENST00000428239.1 + 2 342 c.83T>A c.(82-84)tTa>tAa p.L28* CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28*|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*|CDC7_ENST00000497611.1_3'UTR NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 28 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) GAAGGCTCTTTAAAAAAAAAC 0.403000 5 143 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 75 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168104956 168104956 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr2:168104956G>A ENST00000409195.1 + 9 7143 c.7054G>A c.(7054-7056)Gat>Aat p.D2352N XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2130N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2352N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2177 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACCTCCAGTAGATGAGAAATC 0.473000 47 131 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56321382 56321382 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr17:56321382C>G ENST00000262290.4 + 3 420 c.104C>G c.(103-105)tCc>tGc p.S35C LPO_ENST00000582328.1_Intron|LPO_ENST00000543544.1_Intron|LPO_ENST00000421678.2_Intron NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 35 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 TCTGCCATCTCCGATACTGTG 0.542000 11 32 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126916142 126916142 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr3:126916142C>T ENST00000398112.1 + 2 854 c.614C>T c.(613-615)tCa>tTa p.S205L NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) TGCTGCAGTTCAGAGCTCCGC 0.652000 40 6 0 0 1 0 0 VDAC1 7416 broad.mit.edu 37 5 133326826 133326826 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr5:133326826G>A ENST00000265333.3 - 4 381 c.137C>T c.(136-138)tCa>tTa p.S46L VDAC1_ENST00000395044.3_Missense_Mutation_p.S46L|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.S46L NM_003374.2 NP_003365.1 P21796 VDAC1_HUMAN voltage-dependent anion channel 1 46 apoptosis|interspecies interaction between organisms mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex porin activity|protein binding|voltage-gated anion channel activity endometrium(1)|large_intestine(1)|lung(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) Dihydroxyaluminium(DB01375) AGTGTTGGCTGAGCCTGAGCT 0.478000 27 84 0 0 1 0 0 PATL1 219988 broad.mit.edu 37 11 59415362 59415362 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr11:59415362C>T ENST00000300146.9 - 15 1842 c.1758G>A c.(1756-1758)caG>caA p.Q586Q NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 586 Region C. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 TACACATGATCTGTACAAAGT 0.438000 20 30 0 0 1 0 0 FAM151B 167555 broad.mit.edu 37 5 79837648 79837648 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr5:79837648C>T ENST00000282226.4 + 6 983 c.828C>T c.(826-828)ctC>ctT p.L276L FAM151B_ENST00000511718.1_3'UTR NM_205548.2 NP_991111.2 Q6UXP7 F151B_HUMAN family with sequence similarity 151, member B 276 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 7 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36) AAGTTAATCTCTAAGAAGAAG 0.299000 10 9 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50740776 50740776 + Nonsense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr10:50740776G>A ENST00000355832.5 - 2 313 c.235C>T c.(235-237)Cag>Tag p.Q79* ERCC6-PGBD3_ENST00000447839.2_Nonsense_Mutation_p.Q79*|PGBD3_ENST00000603152.1_Nonsense_Mutation_p.Q79*|ERCC6-PGBD3_ENST00000515869.1_Nonsense_Mutation_p.Q79* NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 79 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GCCTGGATCTGATGTCGGTCG 0.622000 Direct reversal of damage;Nucleotide excision repair (NER) 25 33 0 0 1 0 0 PKIG 11142 broad.mit.edu 37 20 43243262 43243262 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr20:43243262C>T ENST00000372889.1 + 5 650 c.65C>T c.(64-66)gCg>gTg p.A22V PKIG_ENST00000349959.3_Missense_Mutation_p.A22V|PKIG_ENST00000372892.3_Missense_Mutation_p.A22V|PKIG_ENST00000372887.1_Missense_Mutation_p.A22V|PKIG_ENST00000372894.3_Missense_Mutation_p.A22V|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372882.3_Missense_Mutation_p.A22V|PKIG_ENST00000372886.1_Missense_Mutation_p.A22V|PKIG_ENST00000477390.1_3'UTR|PKIG_ENST00000372891.3_Missense_Mutation_p.A22V NM_001281444.1 NP_001268373.1 Q9Y2B9 IPKG_HUMAN protein kinase (cAMP-dependent, catalytic) inhibitor gamma 22 cAMP-dependent protein kinase inhibitor activity|protein binding breast(1)|urinary_tract(1) 2 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189) CGTCGGAATGCGGTCCCTGAC 0.627000 4 191 0 0 1 0 0 C10orf82 143379 broad.mit.edu 37 10 118424359 118424359 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr10:118424359C>G ENST00000369210.3 - 4 428 c.374G>C c.(373-375)aGa>aCa p.R125T C10orf82_ENST00000588184.1_Missense_Mutation_p.R125T NM_144661.2 NP_653262.1 Q8WW14 CJ082_HUMAN chromosome 10 open reading frame 82 125 endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all cancers(201;0.0143) GACAGTGTATCTCGTGCCACA 0.522000 49 64 0 0 1 0 0 TTLL7 79739 broad.mit.edu 37 1 84399296 84399296 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr1:84399296G>A ENST00000260505.8 - 9 1419 c.1042C>T c.(1042-1044)Ctg>Ttg p.L348L TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 348 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) CTTACCTCCAGAAGCCATGGC 0.373000 67 71 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70504295 70504295 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr1:70504295G>A ENST00000310961.5 + 22 3107 c.2689G>A c.(2689-2691)Gta>Ata p.V897I LRRC7_ENST00000035383.5_Missense_Mutation_p.V892I|LRRC7_ENST00000415775.2_Missense_Mutation_p.V176I Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 892 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TTCTCCAGGCGTACCATGGGA 0.423000 48 82 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 46 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61712986 61712986 + Missense_Mutation SNP A A G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr8:61712986A>G ENST00000423902.2 + 5 2757 c.2278A>G c.(2278-2280)Act>Gct p.T760A CHD7_ENST00000525508.1_Missense_Mutation_p.T760A|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 760 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAAGCGCTACACTGAAGACCT 0.478000 21 21 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110238434 110238434 + Missense_Mutation SNP T T C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr12:110238434T>C ENST00000418703.2 - 4 936 c.842A>G c.(841-843)tAc>tGc p.Y281C TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000261740.2_Missense_Mutation_p.Y281C|TRPV4_ENST00000537083.1_Missense_Mutation_p.Y281C|TRPV4_ENST00000536838.1_Missense_Mutation_p.Y247C|TRPV4_ENST00000346520.2_Missense_Mutation_p.Y281C|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000541794.1_Intron NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 281 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 AAAGTAGAAGTAGCCCCCCTC 0.612000 61 28 0 0 1 0 0 SNAP29 9342 broad.mit.edu 37 22 21213484 21213484 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr22:21213484G>A ENST00000215730.7 + 1 214 c.86G>A c.(85-87)cGa>cAa p.R29Q NM_004782.3 NP_004773.1 O95721 SNP29_HUMAN synaptosomal-associated protein, 29kDa cellular membrane fusion|exocytosis|protein transport|vesicle targeting cell junction|cytoplasm|nucleus|synapse|synaptosome SNAP receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1) 9 all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|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;0.000592)|Lung(15;0.0117) AGGGACGCCCGAGACCTCCCC 0.716000 10 28 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49928679 49928679 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr3:49928679G>A ENST00000296474.3 - 17 3622 c.3595C>T c.(3595-3597)Ctg>Ttg p.L1199L MST1R_ENST00000344206.4_Silent_p.L1150L NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1199 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TGCTCTGCCAGGTACTCCATG 0.612000 63 2 0 0 1 0 0 SCNM1 79005 broad.mit.edu 37 1 151141526 151141526 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr1:151141526G>A ENST00000368905.4 + 7 769 c.658G>A c.(658-660)Gat>Aat p.D220N NM_001204856.1|NM_024041.3 NP_001191785.1|NP_076946.1 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 220 mRNA processing|RNA splicing nucleus metal ion binding|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GTTTGACTCTGATGAGGAGGA 0.423000 52 68 0 0 1 0 0 TOR1B 27348 broad.mit.edu 37 9 132565666 132565666 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr9:132565666G>A ENST00000259339.2 + 1 235 c.175G>A c.(175-177)Gag>Aag p.E59K TOR1B_ENST00000486372.1_3'UTR NM_014506.1 NP_055321.1 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) 59 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding endometrium(3)|kidney(1)|large_intestine(1)|lung(7) 12 Ovarian(14;0.0586) GTGCTGCCGCGAGGAGCGGCC 0.746000 20 3 0 0 1 0 0 RPL31P11 641311 broad.mit.edu 37 1 161654755 161654755 + RNA SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr1:161654755G>A ENST00000426558.1 - 0 287 NR_002595.1 ACACGGATTCGGTATGGGACA 0.448000 17 18 0 0 1 0 0 PRF1 5551 broad.mit.edu 37 10 72360386 72360386 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr10:72360386C>T ENST00000441259.1 - 2 433 c.273G>A c.(271-273)gcG>gcA p.A91A PRF1_ENST00000373209.2_Silent_p.A91A NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 91 MACPF. A -> V (in dbSNP:rs35947132). apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 AGTTGGTGAGCGCCAGAGGCA 0.657000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 18 16 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 76 0 0 1 0 0 TIMM50 92609 broad.mit.edu 37 19 39971574 39971574 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr19:39971574G>A ENST00000314349.4 + 1 523 c.390G>A c.(388-390)gcG>gcA p.A130A TIMM50_ENST00000599794.1_Silent_p.A27A|TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000607714.1_Silent_p.A27A NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 27 mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGAGGTTGGCGACGCCGCCCC 0.706000 9 23 0 0 1 0 0 OR2T8 343172 broad.mit.edu 37 1 248084484 248084484 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr1:248084484G>A ENST00000319968.4 + 1 165 c.165G>A c.(163-165)acG>acA p.T55T NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGCTCCACACGCCCATGTACT 0.522000 62 95 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106916969 106916969 + Missense_Mutation SNP A A T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr10:106916969A>T ENST00000369701.3 + 10 1783 c.1556A>T c.(1555-1557)aAc>aTc p.N519I NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 519 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ATCACTTACAACAAAGGCAGG 0.512000 27 24 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155527888 155527888 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr4:155527888G>A ENST00000404648.3 - 8 1337 c.1098C>T c.(1096-1098)caC>caT p.H366H FGG_ENST00000407946.1_Silent_p.H374H|FGG_ENST00000405164.1_Silent_p.H374H|FGG_ENST00000336098.3_Silent_p.H366H NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 366 Fibrinogen C-terminal. 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 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GATGGCCAGCGTGACACTTGT 0.363000 29 36 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531924 92531924 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr11:92531924C>T ENST00000298047.6 + 9 5762 c.5745C>T c.(5743-5745)ccC>ccT p.P1915P FAT3_ENST00000525166.1_Silent_p.P1765P|FAT3_ENST00000409404.2_Silent_p.P1915P Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1915 Cadherin 17. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTGAGGTACCCCCTGAACTGA 0.418000 TCGA Ovarian(4;0.039) 25 3 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49928719 49928719 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr3:49928719G>A ENST00000296474.3 - 17 3582 c.3555C>T c.(3553-3555)ctC>ctT p.L1185L MST1R_ENST00000344206.4_Silent_p.L1136L NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1185 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CAAAGCTGATGAGGTCCTTCA 0.632000 64 4 0 0 1 0 0 GPR142 350383 broad.mit.edu 37 17 72368159 72368159 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr17:72368159C>T ENST00000335666.4 + 4 857 c.809C>T c.(808-810)tCg>tTg p.S270L NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 270 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CGGGCCGCCTCGTCCCCAGGC 0.657000 23 22 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22272043 22272043 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr19:22272043C>T ENST00000594947.1 + 4 1635 c.1491C>T c.(1489-1491)aaC>aaT p.N497N NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 497 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) AAGCCTTTAACCGGTCTTCAC 0.393000 32 35 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5212395 5212395 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr19:5212395G>A ENST00000372412.4 - 31 4958 c.4725C>T c.(4723-4725)gtC>gtT p.V1575V PTPRS_ENST00000262963.6_Silent_p.V1554V|PTPRS_ENST00000587303.1_Silent_p.V1574V|PTPRS_ENST00000588012.1_Silent_p.V1536V|PTPRS_ENST00000592099.1_Silent_p.V1127V|PTPRS_ENST00000348075.2_Silent_p.V1536V|PTPRS_ENST00000353284.2_Silent_p.V1127V|PTPRS_ENST00000357368.4_Silent_p.V1574V|PTPRS_ENST00000588552.1_5'UTR Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1574 Tyrosine-protein phosphatase 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TGCAGGTCTTGACTCTCCGCA 0.662000 6 27 0 0 1 0 0 MASTL 84930 broad.mit.edu 37 10 27459681 27459681 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr10:27459681C>G ENST00000375946.4 + 8 2396 c.1793C>G c.(1792-1794)tCt>tGt p.S598C MASTL_ENST00000342386.6_Missense_Mutation_p.S598C|MASTL_ENST00000375940.4_Missense_Mutation_p.S598C|MASTL_ENST00000477034.1_3'UTR NM_001172303.1|NM_032844.3 NP_001165774.1|NP_116233.2 Q96GX5 GWL_HUMAN microtubule associated serine/threonine kinase-like 598 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AAAGAATCCTCTTTTGAAGAA 0.368000 10 23 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13753602 13753602 + Missense_Mutation SNP A A C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr5:13753602A>C ENST00000265104.4 - 63 10716 c.10612T>G c.(10612-10614)Ttt>Gtt p.F3538V NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3538 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGATCACGAAACTCTTGGTTA 0.383000 Kartagener syndrome 33 95 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237756779 237756779 + Missense_Mutation SNP T T A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr1:237756779T>A ENST00000366574.2 + 33 4596 c.4279T>A c.(4279-4281)Tat>Aat p.Y1427N RYR2_ENST00000542537.1_Missense_Mutation_p.Y1411N|RYR2_ENST00000360064.6_Missense_Mutation_p.Y1425N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1427 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTCACAGTACTATTACTCAGT 0.388000 12 46 0 0 1 0 0 HS6ST3 266722 broad.mit.edu 37 13 96743176 96743176 + Silent SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr13:96743176C>G ENST00000376705.2 + 1 84 c.60C>G c.(58-60)gtC>gtG p.V20V NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 20 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) TCTTCGTGGTCATCATGTACC 0.697000 16 27 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100532349 100532349 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr4:100532349C>T ENST00000457717.1 + 14 2075 c.1819C>T c.(1819-1821)Cgt>Tgt p.R607C RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.R607C|MTTP_ENST00000511045.1_Missense_Mutation_p.R634C NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 607 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CAATTATGACCGTTTCTCCAG 0.423000 26 46 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304792 102304792 + RNA SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr15:102304792G>C ENST00000561463.1 + 0 12838 CGCGTGGGAAGAAGAAGACAC 0.587000 3 23 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76496330 76496330 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr15:76496330C>T ENST00000388942.3 + 11 1546 c.1270C>T c.(1270-1272)Cct>Tct p.P424S NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 424 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 TGAGCCCGGCCCTTCTCCCCC 0.701000 28 38 0 0 1 0 0 GIN1 54826 broad.mit.edu 37 5 102442494 102442494 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr5:102442494C>T ENST00000399004.2 - 3 353 c.259G>A c.(259-261)Ggt>Agt p.G87S GIN1_ENST00000508629.1_Missense_Mutation_p.G87S NM_017676.2 NP_060146.2 Q9NXP7 GIN1_HUMAN gypsy retrotransposon integrase 1 87 DNA integration DNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) CTGGATATACCATGATGAGCT 0.363000 16 8 0 0 1 0 0 PRTN3 5657 broad.mit.edu 37 19 846267 846267 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr19:846267G>A ENST00000544537.2 + 3 549 c.367G>A c.(367-369)Gac>Aac p.D123N PRTN3_ENST00000234347.5_Missense_Mutation_p.D164N P24158 PRTN3_HUMAN proteinase 3 164 Peptidase S1. collagen catabolic process|positive regulation of cell proliferation|proteolysis protein binding|serine-type endopeptidase activity lung(1)|ovary(2)|urinary_tract(1) 4 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGTGCCCACGACCCCCCAGC 0.677000 8 8 0 0 1 0 0 XPA 7507 broad.mit.edu 37 9 100459547 100459547 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr9:100459547C>T ENST00000375128.4 - 1 92 c.28G>A c.(28-30)Gag>Aag p.E10K NM_000380.3 NP_000371.1 P23025 XPA_HUMAN xeroderma pigmentosum, complementation group A 10 Interaction with CEP164 and required for UV resistance. nucleotide-excision repair, DNA damage removal nucleoplasm damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1) 11 Acute lymphoblastic leukemia(62;0.158) GCCGCCGCCTCCGGCAAAGCC 0.736000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 21 20 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139606405 139606405 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr8:139606405C>T ENST00000303045.6 - 63 4916 c.4470G>A c.(4468-4470)gcG>gcA p.A1490A COL22A1_ENST00000435777.1_Silent_p.A1470A|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1490 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ACTTCATGTACGCCGGGGGCA 0.602000 HNSCC(7;0.00092) 40 59 0 0 1 0 0 SLC24A2 25769 broad.mit.edu 37 9 19573435 19573435 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr9:19573435C>T ENST00000341998.2 - 6 1322 c.1261G>A c.(1261-1263)Gat>Aat p.D421N SLC24A2_ENST00000286344.3_Missense_Mutation_p.D404N NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 421 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) ATTTCAACATCTGTGCTGGTG 0.433000 48 16 0 0 1 0 0 SLC30A5 64924 broad.mit.edu 37 5 68404192 68404192 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr5:68404192G>C ENST00000396591.3 + 5 986 c.376G>C c.(376-378)Gag>Cag p.E126Q NM_022902.4 NP_075053.2 Q8TAD4 ZNT5_HUMAN solute carrier family 30 (zinc transporter), member 5 126 cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane zinc ion binding|zinc ion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) GCTGCTATTTGAGCACAGTGA 0.333000 15 14 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57963097 57963097 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr12:57963097G>A ENST00000455537.2 + 10 1152 c.878G>A c.(877-879)gGg>gAg p.G293E KIF5A_ENST00000286452.5_Missense_Mutation_p.G204E NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 293 Kinesin-motor.|Microtubule-binding. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 GACTCTCTCGGGGGAAACTGC 0.478000 22 71 0 0 1 0 0 FBXO34 55030 broad.mit.edu 37 14 55817949 55817949 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr14:55817949G>C ENST00000313833.4 + 2 1086 c.841G>C c.(841-843)Gac>Cac p.D281H FBXO34_ENST00000440021.1_Missense_Mutation_p.D281H NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 281 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 CCGTGTCCTTGACATGGTAGC 0.552000 88 81 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49927946 49927946 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr3:49927946G>A ENST00000296474.3 - 18 3809 c.3782C>T c.(3781-3783)aCc>aTc p.T1261I MST1R_ENST00000344206.4_Missense_Mutation_p.T1212I NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1261 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) AAATCTATAGGTCTGCAGGCT 0.572000 36 2 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420475 11420475 + Silent SNP A A G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr12:11420475A>G ENST00000279573.7 - 3 843 c.708T>C c.(706-708)ccT>ccC p.P236P PRB3_ENST00000538488.1_Intron|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich. extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGGGACCTTGAGGTTTGTTGC 0.617000 5 5 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49929255 49929255 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr3:49929255G>A ENST00000296474.3 - 15 3315 c.3288C>T c.(3286-3288)gtC>gtT p.V1096V MST1R_ENST00000344206.4_Silent_p.V1047V NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1096 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CTCCGTGGTAGACAACTCCAA 0.532000 129 11 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16883020 16883020 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr10:16883020C>T ENST00000377833.4 - 61 9755 c.9690G>A c.(9688-9690)gcG>gcA p.A3230A NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3230 CUB 24. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAGCCAAGTTCGCATTTTCAC 0.368000 14 15 0 0 1 0 0 LMBRD1 55788 broad.mit.edu 37 6 70447864 70447864 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr6:70447864C>G ENST00000370577.3 - 7 835 c.606G>C c.(604-606)ttG>ttC p.L202F LMBRD1_ENST00000370570.1_Missense_Mutation_p.L129F NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 202 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 ACATTCCAATCAAGGTCAGAG 0.289000 12 13 0 0 1 0 0 TOR1B 27348 broad.mit.edu 37 9 132565654 132565654 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr9:132565654G>A ENST00000259339.2 + 1 223 c.163G>A c.(163-165)Gag>Aag p.E55K TOR1B_ENST00000486372.1_3'UTR NM_014506.1 NP_055321.1 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) 55 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding endometrium(3)|kidney(1)|large_intestine(1)|lung(7) 12 Ovarian(14;0.0586) CCGCTTCGCCGAGTGCTGCCG 0.746000 21 2 0 0 1 0 0 HPN 3249 broad.mit.edu 37 19 35551678 35551678 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr19:35551678C>T ENST00000262626.2 + 9 1593 c.768C>T c.(766-768)aaC>aaT p.N256N HPN_ENST00000597419.1_Silent_p.N98N|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Silent_p.N256N NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin 256 Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) AGAACAGCAACGATATTGCCC 0.637000 19 105 0 0 1 0 0 ZNF649 65251 broad.mit.edu 37 19 52394437 52394437 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr19:52394437G>C ENST00000354957.3 - 5 1236 c.952C>G c.(952-954)Cat>Gat p.H318D CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.H290D NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CTGCATGTATGAGGCTTCTCT 0.453000 27 37 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103305851 103305851 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr8:103305851G>A ENST00000520539.1 - 34 5177 c.4571C>T c.(4570-4572)tCa>tTa p.S1524L UBR5_ENST00000521922.1_Missense_Mutation_p.S1518L|UBR5_ENST00000519528.1_5'UTR|UBR5_ENST00000220959.4_Missense_Mutation_p.S1524L NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1524 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CTGATCAGATGATGGTCGTGG 0.443000 36 64 0 0 1 0 0 DBT 1629 broad.mit.edu 37 1 100701061 100701061 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr1:100701061C>T ENST00000370132.4 - 3 195 c.182G>A c.(181-183)cGt>cAt p.R61H DBT_ENST00000370131.3_Missense_Mutation_p.R61H NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) AACCTGTCCACGGAGAGCTTC 0.333000 8 72 0 0 1 0 0 TMCC2 9911 broad.mit.edu 37 1 205210828 205210828 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr1:205210828G>A ENST00000358024.3 + 2 792 c.403G>A c.(403-405)Gcc>Acc p.A135T TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.A57T NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 135 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CGTCTCCTACGCCATGTCCCT 0.662000 19 35 0 0 1 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46053301 46053301 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr17:46053301G>A ENST00000536708.2 + 8 904 c.795G>A c.(793-795)gaG>gaA p.E265E CDK5RAP3_ENST00000338399.4_Silent_p.E240E NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 240 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 CGGTGTACGAGTGGAGGACAG 0.587000 46 84 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140201632 140201632 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr5:140201632G>A ENST00000529859.1 + 1 272 c.272G>A c.(271-273)cGg>cAg p.R91Q PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R91Q|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R91Q|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGATCGACCGGGAGGAGCTG 0.622000 13 243 0 0 1 0 0 ZNF277 11179 broad.mit.edu 37 7 111981066 111981066 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr7:111981066G>A ENST00000361822.3 + 11 1278 c.1149G>A c.(1147-1149)tcG>tcA p.S383S AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA NM_021994.2 NP_068834.2 Q9NRM2 ZN277_HUMAN zinc finger protein 277 383 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 15 AACACACTTCGCTGCTCCCCG 0.423000 44 50 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430101 43430101 + RNA SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr19:43430101G>A ENST00000406070.2 - 0 1163 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) GTTAGAGTCCGCAAAGCAGGA 0.448000 5 356 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 734746 734746 + Splice_Site SNP A A G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr9:734746A>G ENST00000382303.1 + 11 3897 c.e11-1 KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Splice_Site|KANK1_ENST00000382297.2_Splice_Site NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTCTCCTTTCAGGTATGAATT 0.338000 38 29 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723603 49723603 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr3:49723603G>A ENST00000449682.2 - 9 1400 c.1039C>T c.(1039-1041)Cgg>Tgg p.R347W MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 333 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.R333W(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCGGGGTTCCGGCAGAAGTTC 0.662000 3 26 0 0 1 0 0 P4HA3 283208 broad.mit.edu 37 11 74009284 74009284 + Missense_Mutation SNP C C G rs142768884 byFrequency TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr11:74009284C>G ENST00000331597.4 - 4 735 c.690G>C c.(688-690)ttG>ttC p.L230F P4HA3_ENST00000427714.2_Missense_Mutation_p.L230F NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 230 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) CCAAGTGATCCAAGGCATCTT 0.443000 48 87 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23908464 23908464 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr13:23908464C>T ENST00000382298.3 - 10 10139 c.9551G>A c.(9550-9552)cGc>cAc p.R3184H SACS_ENST00000382292.3_Missense_Mutation_p.R3184H|SACS_ENST00000402364.1_Missense_Mutation_p.R2434H NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3184 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CAAGTCTTTGCGGGATGGAAT 0.343000 11 13 0 0 1 0 0 NKX6-3 157848 broad.mit.edu 37 8 41504183 41504183 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr8:41504183G>A ENST00000524115.2 - 2 196 c.193C>T c.(193-195)Cgg>Tgg p.R65W NM_152568.2 NP_689781.1 A6NJ46 NKX63_HUMAN NK6 homeobox 3 195 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1) 1 Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTCTTCTTCCGCCACTTGGTC 0.697000 5 9 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79205678 79205678 + Missense_Mutation SNP T T C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr4:79205678T>C ENST00000264895.6 + 13 1815 c.1375T>C c.(1375-1377)Tac>Cac p.Y459H FRAS1_ENST00000264899.6_Missense_Mutation_p.Y459H|FRAS1_ENST00000325942.6_Missense_Mutation_p.Y459H NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 459 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ACTGGGTTTTTACCAAGCTGG 0.488000 53 82 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36492872 36492872 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr17:36492872G>A ENST00000342292.4 - 4 1236 c.1216C>T c.(1216-1218)Cgc>Tgc p.R406C NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 406 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TTGTTCCGGCGGCAGCGGTAG 0.612000 9 11 0 0 1 0 0 NUMBL 9253 broad.mit.edu 37 19 41190341 41190341 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr19:41190341G>A ENST00000252891.4 - 3 397 c.230C>T c.(229-231)aCg>aTg p.T77M NUMBL_ENST00000598779.1_Missense_Mutation_p.T36M|NUMBL_ENST00000599594.1_5'UTR|NUMBL_ENST00000540131.1_Missense_Mutation_p.T36M NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 77 PID. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) GAAGCTGCACGTGCCCTTCCG 0.746000 11 9 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43495459 43495459 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr6:43495459C>T ENST00000265351.7 - 26 3043 c.2833G>A c.(2833-2835)Gag>Aag p.E945K POLR1C_ENST00000304004.3_Intron NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 945 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) TCTGCAGCCTCATCTTCTCCA 0.507000 35 44 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 5 142 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43934541 43934541 + Splice_Site SNP A A T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr2:43934541A>T ENST00000282406.4 + 11 1933 c.1823A>T c.(1822-1824)aAg>aTg p.K608M NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 608 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTTCTTTAGAAGGCGACCCAA 0.488000 4 137 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr4:1803568C>G ENST00000340107.4 + 7 1002 c.746C>G c.(745-747)tCc>tGc p.S249C FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 249 S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1204)|p.R248_S249del(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.736000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 20 11 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 29012388 29012388 + Silent SNP C C T rs116486684 by1000genomes TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr13:29012388C>T ENST00000282397.4 - 4 734 c.483G>A c.(481-483)acG>acA p.T161T FLT1_ENST00000539099.1_Silent_p.T161T|FLT1_ENST00000541932.1_Silent_p.T161T NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 161 Ig-like C2-type 2. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TGTTAGGTGACGTAACCCGGC 0.398000 11 11 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27126006 27126006 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr15:27126006C>T ENST00000335625.5 + 4 988 c.100C>T c.(100-102)Cca>Tca p.P34S GABRA5_ENST00000557449.1_3'UTR|GABRA5_ENST00000355395.5_Missense_Mutation_p.P34S|GABRA5_ENST00000400081.3_Missense_Mutation_p.P34S|GABRB3_ENST00000541819.2_Intron NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 34 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTCACAGATGCCAACCAGTTC 0.418000 21 39 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228399647 228399647 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr1:228399647C>T ENST00000570156.2 + 2 237 c.163C>T c.(163-165)Cgc>Tgc p.R55C OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000284548.11_Missense_Mutation_p.R55C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R55C|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 55 Ig-like 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGCCGGCGCGCGCTTCCGTCT 0.687000 11 6 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223984287 223984287 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr1:223984287C>T ENST00000391878.2 - 14 2335 c.1567G>A c.(1567-1569)Ggt>Agt p.G523S TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.G652S|TP53BP2_ENST00000498843.1_5'UTR NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 646 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) ACAGGCTTACCATATACTAAT 0.398000 34 77 0 0 1 0 0 TRIM25 7706 broad.mit.edu 37 17 54969173 54969173 + Missense_Mutation SNP G G T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr17:54969173G>T ENST00000316881.4 - 9 1830 c.1781C>A c.(1780-1782)gCc>gAc p.A594D TRIM25_ENST00000537230.1_Missense_Mutation_p.A594D|RP11-670E13.5_ENST00000574826.1_RNA NM_005082.4 NP_005073.2 Q14258 TRI25_HUMAN tripartite motif containing 25 594 B30.2/SPRY. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) GACCTTGTCGGCAACAGCGAA 0.542000 25 28 4.4004e-07 4.51228e-07 1 1 0 SPTAN1 6709 broad.mit.edu 37 9 131381226 131381226 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr9:131381226G>A ENST00000358161.5 + 44 5790 c.5677G>A c.(5677-5679)Gag>Aag p.E1893K SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1888K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1893K Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1888 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 CTGGATCAATGAGAAAATGAC 0.498000 37 6 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81110945 81110945 + Nonsense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr12:81110945C>T ENST00000228644.3 + 1 255 c.103C>T c.(103-105)Cga>Tga p.R35* NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 35 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 GTTTGTGCCGCGAGTGGCTGC 0.622000 46 19 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60913289 60913289 + Splice_Site SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr20:60913289C>T ENST00000252999.3 - 13 1821 c.1755G>A c.(1753-1755)caG>caA p.Q585Q NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 585 Laminin EGF-like 5. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCACTCACACTGGCAGAGAG 0.672000 18 23 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135020668 135020668 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr10:135020668G>A ENST00000304613.3 + 20 3628 c.3607G>A c.(3607-3609)Gag>Aag p.E1203K KNDC1_ENST00000368572.2_Missense_Mutation_p.E1205K|KNDC1_ENST00000368571.2_3'UTR Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1203 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CTGGGGCCTGGAGCCCTGCAC 0.657000 4 8 0 0 1 0 0 GSDMA 284110 broad.mit.edu 37 17 38133155 38133155 + Silent SNP C C T rs138595723 by1000genomes TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr17:38133155C>T ENST00000301659.4 + 12 1300 c.1182C>T c.(1180-1182)gaC>gaT p.D394D NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 394 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 CCCTTGGGGACGAGGAGCTGA 0.597000 24 104 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56342246 56342246 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr17:56342246G>A ENST00000262290.4 + 10 1746 c.1430G>A c.(1429-1431)cGc>cAc p.R477H LPO_ENST00000582328.1_Missense_Mutation_p.R394H|LPO_ENST00000543544.1_Missense_Mutation_p.R418H|LPO_ENST00000421678.2_Missense_Mutation_p.R394H NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 477 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 AGTATGTTCCGCCTGGATGAG 0.512000 32 43 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131379944 131379944 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr9:131379944G>C ENST00000358161.5 + 42 5496 c.5383G>C c.(5383-5385)Gag>Cag p.E1795Q SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1790Q|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1795Q Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1790 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GGTGGGCTCAGAGGACTACGG 0.572000 27 6 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131379988 131379988 + Missense_Mutation SNP G G T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr9:131379988G>T ENST00000358161.5 + 42 5540 c.5427G>T c.(5425-5427)aaG>aaT p.K1809N SPTAN1_ENST00000372731.4_Missense_Mutation_p.K1804N|SPTAN1_ENST00000372739.3_Missense_Mutation_p.K1809N Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1804 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 ACCTGAGGAAGAAGCACAAGC 0.597000 39 8 3.76604e-16 3.92837e-16 1 1 0 ALX4 60529 broad.mit.edu 37 11 44296955 44296955 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr11:44296955G>A ENST00000329255.3 - 2 823 c.720C>T c.(718-720)gaC>gaT p.D240D NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 240 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 GCGCATACACGTCTGGGTAGT 0.617000 106 13 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13409644 13409644 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr19:13409644G>A ENST00000360228.5 - 19 2802 c.2803C>T c.(2803-2805)Cgg>Tgg p.R935W CACNA1A_ENST00000573710.2_Missense_Mutation_p.R936W NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 936 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CCCCCCTGCCGGTGCACGTGC 0.781000 16 20 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95497802 95497802 + RNA SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr2:95497802G>C ENST00000432432.2 - 0 1041 NR_040113.1 CGAAGGTCCAGGTAAAGGCTC 0.388000 6 271 0 0 1 0 0 ATF6 22926 broad.mit.edu 37 1 161789557 161789557 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr1:161789557G>A ENST00000367942.3 + 8 1111 c.1044G>A c.(1042-1044)ctG>ctA p.L348L NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 348 Leucine-zipper. positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) ACGAGCAACTGAAGAAAGAAA 0.448000 19 27 0 0 1 0 0 TUBA8 51807 broad.mit.edu 37 22 18609175 18609175 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr22:18609175G>A ENST00000330423.3 + 4 503 c.430G>A c.(430-432)Ggc>Agc p.G144S TUBA8_ENST00000316027.6_Missense_Mutation_p.G78S NM_018943.2 NP_061816.1 Q9NY65 TBA8_HUMAN tubulin, alpha 8 144 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 TTTTGGTGGGGGCACTGGCTC 0.537000 4 196 0 0 1 0 0 PPME1 51400 broad.mit.edu 37 11 73958134 73958134 + Silent SNP A A G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr11:73958134A>G ENST00000328257.8 + 11 1298 c.975A>G c.(973-975)agA>agG p.R325R PPME1_ENST00000543525.1_Silent_p.R138R|P4HA3_ENST00000540363.1_Intron|PPME1_ENST00000398427.4_Silent_p.R339R Q9Y570 PPME1_HUMAN protein phosphatase methylesterase 1 325 protein demethylation carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(2) 5 Breast(11;3.29e-05) GTGTTGATAGATTGGATAAAG 0.348000 15 17 0 0 1 0 0 LRRC8B 23507 broad.mit.edu 37 1 90058386 90058386 + Frame_Shift_Del DEL G G - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:90058386delG ENST00000330947.2 + 6 2556 c.2196delG c.(2194-2196)ttgfs p.L732fs LRRC8B_ENST00000439853.1_Frame_Shift_Del_p.L732fs|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Frame_Shift_Del_p.L732fs NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 732 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) GTTTACTTTTGGGGAAAAATA 0.423 47 69 --- --- --- --- NOP14 8602 broad.mit.edu 37 4 2954005 2954006 + Frame_Shift_Ins INS - - A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr4:2954005_2954006insA ENST00000416614.2 - 6 931_932 c.866_867insT c.(865-867)ctgfs p.L289fs NOP14_ENST00000314262.6_Frame_Shift_Ins_p.L289fs|NOP14_ENST00000398071.4_Frame_Shift_Ins_p.L289fs|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Frame_Shift_Ins_p.L289fs P78316 NOP14_HUMAN NOP14 nucleolar protein 289 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 ACCCTACCTCCAGCTTCCTGAG 0.559 23 85 --- --- --- --- AC006988.1 0 broad.mit.edu 37 7 88269891 88269891 + RNA DEL T T - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr7:88269891delT ENST00000390184.1 + 0 57 GAAGGAGCACTTTTTTTTTTT 0.313 2 4 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151843779 151843788 + Frame_Shift_Del DEL TTCTCACACA TTCTCACACA - rs142657994 byFrequency TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr7:151843779_151843788delTTCTCACACA ENST00000355193.2 - 54 14316_14325 c.14098_14107delTGTGTGAGAA c.(14098-14109)tgtgtgagaaaafs p.CVRK4700fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.CVRK4643fs lysine (K)-specific methyltransferase 2C TCAGACTTTTTTCTCACACATGCCACAGGC 0.419 OREG0018460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 52 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971092 21971093 + Frame_Shift_Del DEL CC CC - rs137854599 TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:21971092_21971093delCC ENST00000579755.1 - 2 600_601 c.308_309delGG c.(307-309)gggfs p.G103fs CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.G89fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.G89fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.G89fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.G89fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.G89S(4)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.G89V(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.G89fs*57(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GTCCAGGAAGCCCTCCCGGGCA 0.757 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 17 2 --- --- --- --- SPTAN1 6709 broad.mit.edu 37 9 131381207 131381207 + Frame_Shift_Del DEL G G - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:131381207delG ENST00000372739.3 + 44 5768 c.5658delG c.(5656-5658)gagfs p.E1888fs SPTAN1_ENST00000358161.5_Frame_Shift_Del_p.E1888fs|SPTAN1_ENST00000372731.4_Frame_Shift_Del_p.E1883fs NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1883 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 ATGTGGAAGAGGAAGAAGCCT 0.498 41 7 --- --- --- --- KCNK7 10089 broad.mit.edu 37 11 65360904 65360905 + Frame_Shift_Del DEL CT CT - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:65360904_65360905delCT ENST00000394216.2 - 2 983_984 c.760_761delAG c.(760-762)aggfs p.R254fs KCNK7_ENST00000394217.2_Intron|KCNK7_ENST00000342202.4_Intron|KCNK7_ENST00000340313.4_Intron NM_005714.1|NM_033455.1 NP_005705.1|NP_258416.1 Q9Y2U2 KCNK7_HUMAN potassium channel, subfamily K, member 7 0 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|liver(1)|lung(1) 3 GTCCAGGCTCCTCTTCCCCCTT 0.649 40 67 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49427030 49427033 + Frame_Shift_Del DEL GGCC GGCC - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr12:49427030_49427033delGGCC ENST00000301067.7 - 39 11454_11457 c.11455_11458delGGCC c.(11455-11460)ggccccfs p.GP3819fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGGCCCTGGGGGCCCAAAGCTCCA 0.676 3 4 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49433666 49433699 + Frame_Shift_Del DEL GGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGT GGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGT - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr12:49433666_49433699delGGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGT ENST00000301067.7 - 31 7853_7886 c.7854_7887delACCTGCACCCGACGGATCCCTCCCCTACCTGTCC c.(7852-7887)ccacctgcacccgacggatccctcccctacctgtccfs p.PPAPDGSLPYLS2618fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGGCTCCATGGGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGTGGTGGCAGAA 0.641 10 21 --- --- --- --- GPR137C 283554 broad.mit.edu 37 14 53101795 53101798 + Frame_Shift_Del DEL AACA AACA - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr14:53101795_53101798delAACA ENST00000321662.6 + 7 1252_1255 c.1252_1255delAACA c.(1252-1257)aacaatfs p.NN418fs NM_001099652.1 NP_001093122.1 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 418 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 Breast(41;0.0716) TTTAGATTTGAACAATCATCATAG 0.382 15 52 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226611 88226611 + RNA DEL G G - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr16:88226611delG ENST00000568587.1 - 0 91 tggtggtgatggtggtgatgg 0.522 2 4 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45247389 45247389 + Frame_Shift_Del DEL T T - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:45247389delT ENST00000066544.3 - 4 364 c.271delA c.(271-273)atcfs p.I91fs CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 91 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.I91fs*54(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CCAGATAAGATTTGTTCCCCT 0.323 9 154 --- --- --- --- ARHGAP35 2909 broad.mit.edu 37 19 47423804 47423804 + Frame_Shift_Del DEL C C - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:47423804delC ENST00000404338.3 + 1 1872 c.1872delC c.(1870-1872)gacfs p.D624fs NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 624 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity CAAATGATGACAAGTATGTGA 0.448 121 131 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36698721 36698722 + Splice_Site DEL CT CT - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr22:36698721_36698722delCT ENST00000216181.5 - 20 2621_2622 c.2391_2392delAG c.(2389-2394)aaagca>aaca p.KA797fs NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 797 IQ. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTGGCAAATGCTCTGTGTGGTG 0.599 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 39 43 --- --- --- --- EP300 2033 broad.mit.edu 37 22 41523722 41523723 + Frame_Shift_Del DEL AC AC - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr22:41523722_41523723delAC ENST00000263253.7 + 4 2357_2358 c.1138_1139delAC c.(1138-1140)acafs p.T380fs NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 380 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 AAACCACATGACACACTGCCAG 0.510 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 55 72 --- --- --- --- EIF2B3 8891 broad.mit.edu 37 1 45407182 45407182 + Frame_Shift_Del DEL T T - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr1:45407182delT ENST00000360403.2 - 4 576 c.450delA c.(448-450)aaafs p.K150fs EIF2B3_ENST00000372183.3_Frame_Shift_Del_p.K150fs|EIF2B3_ENST00000480675.1_5'UTR NM_001261418.1|NM_020365.4 NP_001248347.1|NP_065098.1 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 150 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 17 Acute lymphoblastic leukemia(166;0.155) CCTTACCTGCTTTTTTTTTCC 0.358 9 140 --- --- --- --- NOP14 8602 broad.mit.edu 37 4 2954005 2954006 + Frame_Shift_Ins INS - - A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr4:2954005_2954006insA ENST00000416614.2 - 6 931_932 c.866_867insT c.(865-867)ctgfs p.L289fs NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Frame_Shift_Ins_p.L289fs|NOP14_ENST00000502735.1_Frame_Shift_Ins_p.L289fs|NOP14_ENST00000314262.6_Frame_Shift_Ins_p.L289fs P78316 NOP14_HUMAN NOP14 nucleolar protein 289 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 ACCCTACCTCCAGCTTCCTGAG 0.559 23 85 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971092 21971093 + Frame_Shift_Del DEL CC CC - rs137854599 TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr9:21971092_21971093delCC ENST00000579755.1 - 2 600_601 c.308_309delGG c.(307-309)gggfs p.G103fs CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.G89fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.G89fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.G89fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.G89fs|RP11-145E5.5_ENST00000404796.2_Intron P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.G89S(4)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.G89V(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.G89fs*57(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GTCCAGGAAGCCCTCCCGGGCA 0.757 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 17 2 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49427030 49427033 + Frame_Shift_Del DEL GGCC GGCC - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr12:49427030_49427033delGGCC ENST00000301067.7 - 39 11454_11457 c.11455_11458delGGCC c.(11455-11460)ggccccfs p.GP3819fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGGCCCTGGGGGCCCAAAGCTCCA 0.676 3 4 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49433666 49433699 + Frame_Shift_Del DEL GGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGT GGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGT - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr12:49433666_49433699delGGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGT ENST00000301067.7 - 31 7853_7886 c.7854_7887delACCTGCACCCGACGGATCCCTCCCCTACCTGTCC c.(7852-7887)ccacctgcacccgacggatccctcccctacctgtccfs p.PPAPDGSLPYLS2618fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGGCTCCATGGGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGTGGTGGCAGAA 0.641 10 21 --- --- --- --- GOLGA2P5 55592 broad.mit.edu 37 12 100562920 100562921 + RNA INS - - T rs58822438 TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr12:100562920_100562921insT ENST00000397112.4 - 0 599 NR_036632.1 large_intestine(1)|lung(3) 4 GGTCTCATTTGTTTTttttttt 0.406 3 4 --- --- --- --- GPR137C 283554 broad.mit.edu 37 14 53101795 53101798 + Frame_Shift_Del DEL AACA AACA - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr14:53101795_53101798delAACA ENST00000321662.6 + 7 1252_1255 c.1252_1255delAACA c.(1252-1257)aacaatfs p.NN418fs NM_001099652.1 NP_001093122.1 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 418 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 Breast(41;0.0716) TTTAGATTTGAACAATCATCATAG 0.382 15 52 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45247389 45247389 + Frame_Shift_Del DEL T T - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr17:45247389delT ENST00000066544.3 - 4 364 c.271delA c.(271-273)atcfs p.I91fs CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 91 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.I91fs*54(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CCAGATAAGATTTGTTCCCCT 0.323 9 154 --- --- --- --- TBC1D3P1-DHX40P1 653645 broad.mit.edu 37 17 58090681 58090681 + RNA DEL T T - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr17:58090681delT ENST00000407042.3 - 0 609 CTCTGAATGATTTTTTTTTTT 0.458 2 4 --- --- --- --- BCAS3 54828 broad.mit.edu 37 17 59465981 59465981 + Frame_Shift_Del DEL A A - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 59708e93-e978-4f23-9f0a-7eea1f851fa0 g.chr17:59465981delA ENST00000589222.1 + 25 2730 c.2662delA c.(2662-2664)aaafs p.K890fs BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000588462.1_Intron|RP11-332H18.5_ENST00000585765.1_RNA Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 0 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TTCAAAAGGGAAAAAAAAAGG 0.443 2 4 --- --- --- ---