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 MAGEC3 139081 broad.mit.edu 37 X 140953275 140953275 + Missense_Mutation SNP G G T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chrX:140953275G>T ENST00000298296.1 + 2 142 c.142G>T c.(142-144)Gat>Tat p.D48Y NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 48 NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) AAAGGCCACAGATAAGGACTA 0.493000 12 35 0.00185496 0.00210229 1 1 0 IFNA16 3449 broad.mit.edu 37 9 21216993 21216993 + Silent SNP G G T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr9:21216993G>T ENST00000380216.1 - 1 317 c.312C>A c.(310-312)ctC>ctA p.L104L NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 104 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) ATTTGTCTAGGAGGGTCTCAT 0.483000 20 63 6.33239e-15 7.68933e-15 1 1 0 F8 2157 broad.mit.edu 37 X 154221393 154221393 + Missense_Mutation SNP C C A TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chrX:154221393C>A ENST00000360256.4 - 4 619 c.419G>T c.(418-420)aGg>aTg p.R140M NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 140 F5/8 type A 1.|Plastocyanin-like 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTCTTTCTCCCTTTGACTGGT 0.418000 8 110 0.000157383 0.000184518 1 1 0 NDST4 64579 broad.mit.edu 37 4 115767006 115767006 + Silent SNP G G A TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr4:115767006G>A ENST00000264363.2 - 10 2766 c.2088C>T c.(2086-2088)ccC>ccT p.P696P NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 696 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CCCTGTCTGAGGGGTCAATGA 0.423000 15 31 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45294274 45294274 + Silent SNP C C T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr1:45294274C>T ENST00000447098.2 - 12 1505 c.1494G>A c.(1492-1494)acG>acA p.T498T PTCH2_ENST00000372192.3_Silent_p.T498T NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 498 SSD. protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CACTGGTGCCCGTGCGCTGCA 0.627000 Basal Cell Nevus syndrome 6 17 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 3 45 0 0 1 0 0 ACSF3 197322 broad.mit.edu 37 16 89180886 89180886 + Missense_Mutation SNP C C T rs144907664 TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr16:89180886C>T ENST00000317447.4 + 6 1494 c.1117C>T c.(1117-1119)Cgc>Tgc p.R373C ACSF3_ENST00000406948.3_Missense_Mutation_p.R373C|ACSF3_ENST00000378345.4_Missense_Mutation_p.R108C|CTD-2555A7.3_ENST00000562782.1_RNA NM_001127214.2|NM_001243279.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 373 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) CACTGCCGTGCGCCTGCCAGG 0.632000 8 49 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152490209 152490209 + Missense_Mutation SNP C C T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr2:152490209C>T ENST00000397345.3 - 65 9575 c.9373G>A c.(9373-9375)Gat>Aat p.D3125N NEB_ENST00000172853.10_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.D3125N|NEB_ENST00000409198.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.D3125N|NEB_ENST00000427231.2_Missense_Mutation_p.D3125N NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 3125 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGGATGACATCGCTCTGGTCA 0.493000 28 68 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14063135 14063135 + RNA SNP G G A TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr11:14063135G>A ENST00000310358.7 + 0 951 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) AGCACTCCACGGAGGAGGACC 0.468000 26 49 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262696 140262696 + Silent SNP T T C TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr5:140262696T>C ENST00000289272.2 + 1 843 c.843T>C c.(841-843)ttT>ttC p.F281F PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.F281F|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTACTCATTTAGAAGGCCTG 0.383000 3 62 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038797 11038797 + RNA SNP T T C TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr21:11038797T>C ENST00000470054.1 - 0 1406 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGCCAGTTTTTTGGAGTGACT 0.418000 12 104 0 0 1 0 0 T 6862 broad.mit.edu 37 6 166580164 166580164 + Silent SNP C C T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr6:166580164C>T ENST00000296946.2 - 3 855 c.387G>A c.(385-387)tcG>tcA p.S129S T_ENST00000366871.3_Silent_p.S129S NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 129 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CGAAGTTGGGCGAGTCGGGGT 0.657000 Chordoma, Familial Clustering of 10 51 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109696380 109696380 + Missense_Mutation SNP G G C TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chrX:109696380G>C ENST00000465301.2 + 3 2781 c.2535G>C c.(2533-2535)atG>atC p.M845I RGAG1_ENST00000540313.1_Missense_Mutation_p.M845I NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 845 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 CTGGAGCAATGTCCATGCCAC 0.527000 66 110 0 0 1 0 0 ATG9B 285973 broad.mit.edu 37 7 150714208 150714208 + Missense_Mutation SNP A A G TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr7:150714208A>G ENST00000605938.1 - 9 2279 c.2204T>C c.(2203-2205)gTa>gCa p.V735A ATG9B_ENST00000377974.2_Missense_Mutation_p.V735A|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Missense_Mutation_p.V221A NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 735 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATCTTGTTGTACTCGGCCCCA 0.652000 5 11 0 0 1 0 0 MRPS30 10884 broad.mit.edu 37 5 44811183 44811183 + Missense_Mutation SNP G G T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr5:44811183G>T ENST00000507110.1 + 2 712 c.674G>T c.(673-675)cGa>cTa p.R225L NM_016640.3 NP_057724.2 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 225 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1) 20 Lung NSC(6;8.08e-07) CGAAGAGGTCGAATTGATGAC 0.363000 3 56 1 1 1 1 0 PPIP5K1 9677 broad.mit.edu 37 15 43827034 43827034 + Silent SNP G G A TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr15:43827034G>A ENST00000420765.1 - 31 4322 c.4140C>T c.(4138-4140)atC>atT p.I1380I PPIP5K1_ENST00000360301.4_Silent_p.I1355I|PPIP5K1_ENST00000396923.3_Silent_p.I1380I|PPIP5K1_ENST00000360135.4_Silent_p.I1353I|PPIP5K1_ENST00000381879.4_Silent_p.I1356I|PPIP5K1_ENST00000381885.1_Silent_p.I1376I|PPIP5K1_ENST00000334933.4_Silent_p.I1355I|PPIP5K1_ENST00000348806.6_Silent_p.I1353I NM_001130858.2 NP_001124330.1 Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 1380 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity large_intestine(1) 1 GGTATGGCTGGATGACCTCCT 0.527000 18 46 0 0 1 0 0 ZNF280C 55609 broad.mit.edu 37 X 129362988 129362988 + Silent SNP G G A TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chrX:129362988G>A ENST00000370978.4 - 10 1263 c.1110C>T c.(1108-1110)tgC>tgT p.C370C NM_017666.4 NP_060136.1 Q8ND82 Z280C_HUMAN zinc finger protein 280C 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 TCTCAATGTGGCACTGCAGTT 0.448000 22 83 0 0 1 0 0 PLK2 10769 broad.mit.edu 37 5 57750746 57750746 + Missense_Mutation SNP T T C TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr5:57750746T>C ENST00000274289.3 - 13 2158 c.1858A>G c.(1858-1860)Acc>Gcc p.T620A PLK2_ENST00000502671.1_Intron NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 620 POLO box 2. positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) ACCTGAAAGGTGCCATCATTA 0.403000 47 85 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8862406 8862406 + Silent SNP C C T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr20:8862406C>T ENST00000338037.6 + 32 3588 c.3561C>T c.(3559-3561)tcC>tcT p.S1187S PLCB1_ENST00000378641.3_3'UTR NM_015192.2 NP_056007.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1187 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TCTCCCTGTCCTCAGACCCTG 0.507000 14 97 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059041 79059041 + Missense_Mutation SNP T T C TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr15:79059041T>C ENST00000388820.4 - 19 3422 c.3212A>G c.(3211-3213)aAt>aGt p.N1071S NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1071 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N1071S(4) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CTCGTGGAAATTGATGAAATT 0.617000 4 37 0 0 1 0 0 EDDM3B 64184 broad.mit.edu 37 14 21238708 21238708 + Silent SNP T T G TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr14:21238708T>G ENST00000326783.3 + 2 497 c.399T>G c.(397-399)gtT>gtG p.V133V NM_022360.4 NP_071755.1 P56851 EP3B_HUMAN epididymal protein 3B 133 spermatid development extracellular region central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 ACGGGTATGTTGATAGCATAG 0.413000 11 18 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605230 140605230 + Missense_Mutation SNP G G T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr5:140605230G>T ENST00000239449.4 + 1 2153 c.2153G>T c.(2152-2154)aGg>aTg p.R718M PCDHB14_ENST00000515856.2_Missense_Mutation_p.R565M NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 718 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGAGGAGCAGGGCGGCCTCG 0.667000 5 192 0.00198382 0.0021758 1 1 0 RGS19 10287 broad.mit.edu 37 20 62705241 62705241 + Silent SNP G G A TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr20:62705241G>A ENST00000395042.1 - 6 885 c.619C>T c.(619-621)Ctg>Ttg p.L207L RGS19_ENST00000332298.5_Silent_p.L207L NM_005873.2 NP_005864.1 P49795 RGS19_HUMAN regulator of G-protein signaling 19 207 Interaction with GIPC. autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction Golgi apparatus|membrane fraction|plasma membrane GTPase activator activity|protein binding|signal transducer activity lung(1)|prostate(1)|skin(1) 3 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GGCCCCTGCAGCAGCAGGGCA 0.672000 4 67 0 0 1 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97396902 97396902 + Missense_Mutation SNP A A G TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr10:97396902A>G ENST00000371224.2 - 5 643 c.506T>C c.(505-507)cTg>cCg p.L169P ALDH18A1_ENST00000483788.1_5'UTR|ALDH18A1_ENST00000371221.3_Missense_Mutation_p.L169P NM_002860.3 NP_002851.2 P54886 P5CS_HUMAN aldehyde dehydrogenase 18 family, member A1 169 Glutamate 5-kinase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) CAAGGCCATCAGCCCACTCTG 0.537000 3 27 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 23 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39889762 39889762 + Silent SNP C C T TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr1:39889762C>T ENST00000564288.1 + 61 16989 c.16212C>T c.(16210-16212)ggC>ggT p.G5404G MACF1_ENST00000317713.7_Silent_p.G3342G|MACF1_ENST00000545844.1_Silent_p.G3342G|MACF1_ENST00000361689.2_Silent_p.G3342G|MACF1_ENST00000539005.1_Silent_p.G3321G|MACF1_ENST00000567887.1_Silent_p.G5441G|MACF1_ENST00000289893.4_Silent_p.G3844G|MACF1_ENST00000372915.3_Silent_p.G5409G Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5409 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGAAGGAGGCAGAATAGCCC 0.468000 6 54 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-EB-A4IQ-01A-12D-A25O-08 TCGA-EB-A4IQ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31A8C6CA-C52E-442F-A6D3-F1238F31E5E6 7F6561A3-7D0D-41EE-99EE-F891DAA6BE34 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 6 76 0 0 1 0 0