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 ZNF845 91664 broad.mit.edu 37 19 53854724 53854724 + Missense_Mutation SNP A A G TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr19:53854724A>G ENST00000458035.1 + 4 913 c.796A>G c.(796-798)Act>Gct p.T266A ZNF845_ENST00000595091.1_Missense_Mutation_p.T266A NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAGATGTCACACTGGCAAGAA 0.388000 14 33 0 0 1 0 0 FAM187B 148109 broad.mit.edu 37 19 35719389 35719389 + Missense_Mutation SNP G G C TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr19:35719389G>C ENST00000324675.3 - 1 243 c.195C>G c.(193-195)agC>agG p.S65R NM_152481.1 NP_689694.1 Q17R55 F187B_HUMAN family with sequence similarity 187, member B 65 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 9 TATTGGTGAGGCTGGTGAGCC 0.507000 14 39 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 3 48 0 0 1 0 0 KIAA2013 90231 broad.mit.edu 37 1 11985396 11985396 + Missense_Mutation SNP A A G TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr1:11985396A>G ENST00000376572.3 - 1 1084 c.899T>C c.(898-900)cTc>cCc p.L300P KIAA2013_ENST00000376576.3_Missense_Mutation_p.L300P NM_138346.2 NP_612355.1 Q8IYS2 K2013_HUMAN KIAA2013 300 integral to membrane endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTTGCTTTTGAGCACCTGGGG 0.597000 3 32 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65188460 65188460 + Missense_Mutation SNP A A G TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr4:65188460A>G ENST00000381210.3 - 4 492 c.382T>C c.(382-384)Tcc>Ccc p.S128P TECRL_ENST00000507440.1_Missense_Mutation_p.S128P NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 128 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 GTGACAATGGAGGAAGCTGCA 0.323000 4 73 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51190309 51190309 + Missense_Mutation SNP T T C TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr14:51190309T>C ENST00000245441.5 - 31 6464 c.6274A>G c.(6274-6276)Act>Gct p.T2092A NIN_ENST00000389868.3_3'UTR|NIN_ENST00000530997.2_Missense_Mutation_p.T2092A NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 1939 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) CGCTGTTCAGTCACTTCCAGA 0.443000 T PDGFRB MPD 4 78 0 0 1 0 0 PLAT 5327 broad.mit.edu 37 8 42045067 42045067 + Missense_Mutation SNP C C G TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr8:42045067C>G ENST00000220809.4 - 6 644 c.388G>C c.(388-390)Gac>Cac p.D130H PLAT_ENST00000352041.3_Missense_Mutation_p.D84H|PLAT_ENST00000429089.2_Missense_Mutation_p.D130H|PLAT_ENST00000270189.6_Missense_Mutation_p.D130H|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000519510.1_Intron NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 130 Kringle 1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) ATGCCCTGGTCCTCGTAGCAC 0.637000 8 19 0 0 1 0 0 ALOX15 246 broad.mit.edu 37 17 4535050 4535050 + Nonsense_Mutation SNP C C A TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr17:4535050C>A ENST00000570836.1 - 15 1930 c.1834G>T c.(1834-1836)Gag>Tag p.E612* ALOX15_ENST00000574640.1_Nonsense_Mutation_p.E573*|ALOX15_ENST00000545513.1_Nonsense_Mutation_p.E634*|ALOX15_ENST00000293761.3_Nonsense_Mutation_p.E612* P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 612 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) GAAAAATACTCCTCCTCATGC 0.577000 4 52 0.00024832 0.00027936 1 1 0 ATG9B 285973 broad.mit.edu 37 7 150713794 150713794 + Missense_Mutation SNP C C A TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr7:150713794C>A ENST00000377974.2 - 11 2477 c.2402G>T c.(2401-2403)cGa>cTa p.R801L ATG9B_ENST00000444312.1_Missense_Mutation_p.R287L|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR Q674R7 ATG9B_HUMAN autophagy related 9B 802 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) CTGGGCAATTCGGGAAATGGA 0.662000 3 13 0.004672 0.00485169 1 1 0 FMOD 2331 broad.mit.edu 37 1 203316735 203316735 + Missense_Mutation SNP G G A TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr1:203316735G>A ENST00000354955.4 - 2 1127 c.664C>T c.(664-666)Ctc>Ttc p.L222F FMOD_ENST00000464898.1_5'UTR NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 222 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) AGTGACCGGAGGCCCCTCATG 0.567000 20 72 0 0 1 0 0 PLAT 5327 broad.mit.edu 37 8 42045068 42045068 + Silent SNP C C T TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr8:42045068C>T ENST00000220809.4 - 6 643 c.387G>A c.(385-387)gaG>gaA p.E129E PLAT_ENST00000352041.3_Silent_p.E83E|PLAT_ENST00000429089.2_Silent_p.E129E|PLAT_ENST00000270189.6_Silent_p.E129E|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000519510.1_Intron NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 129 Kringle 1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TGCCCTGGTCCTCGTAGCACG 0.637000 8 19 0 0 1 0 0 TRIM38 10475 broad.mit.edu 37 6 25966899 25966899 + Missense_Mutation SNP A A C TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr6:25966899A>C ENST00000357085.3 + 3 625 c.149A>C c.(148-150)aAg>aCg p.K50T TRIM38_ENST00000349458.3_Missense_Mutation_p.K50T NM_006355.3 NP_006346.1 O00635 TRI38_HUMAN tripartite motif containing 38 50 positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 CCAAGCCAAAAGCAACTGAGG 0.507000 3 44 0 0 1 0 0 POLA1 5422 broad.mit.edu 37 X 24761358 24761358 + Silent SNP T T C TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chrX:24761358T>C ENST00000379068.3 + 23 2521 c.2478T>C c.(2476-2478)gaT>gaC p.D826D POLA1_ENST00000379059.3_Silent_p.D820D P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 820 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) GAGATGAAGATGAAGAAATTG 0.378000 3 37 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2129863 2129863 + Silent SNP T T C TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr4:2129863T>C ENST00000511885.2 - 19 2312 c.1959A>G c.(1957-1959)gtA>gtG p.V653V POLN_ENST00000382865.1_Silent_p.V653V Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 653 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) GAGTAGAAAATACATCATCTC 0.368000 DNA polymerases (catalytic subunits) 6 26 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106976779 106976779 + Missense_Mutation SNP G G A TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr10:106976779G>A ENST00000369701.3 + 19 2860 c.2633G>A c.(2632-2634)gGc>gAc p.G878D SORCS3_ENST00000369699.4_Missense_Mutation_p.G164D NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 878 PKD. 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) ATCGAGGACGGCATCAAGCAC 0.517000 3 50 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385626 33385626 + Missense_Mutation SNP G G A rs149760238 by1000genomes TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr9:33385626G>A ENST00000537089.1 - 6 806 c.488C>T c.(487-489)cCa>cTa p.P163L AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.P255L|AQP7_ENST00000541274.1_Silent_p.P123P O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) TCAAAGGAATGGGCCTGGGCA 0.622000 4 52 0 0 1 0 0 IL4R 3566 broad.mit.edu 37 16 27374978 27374978 + Missense_Mutation SNP G G T TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr16:27374978G>T ENST00000395762.2 + 11 2564 c.2305G>T c.(2305-2307)Gtt>Ttt p.V769F IL4R_ENST00000170630.2_Missense_Mutation_p.V769F|IL4R_ENST00000380922.3_Missense_Mutation_p.V754F|IL4R_ENST00000543915.2_Missense_Mutation_p.V769F NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 769 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 TCCAGGTGGGGTTCCACTGGA 0.637000 13 28 0.00010058 0.000118072 1 1 0 LRP1 4035 broad.mit.edu 37 12 57589943 57589943 + Silent SNP C C T rs139174222 by1000genomes TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr12:57589943C>T ENST00000243077.3 + 55 9241 c.8775C>T c.(8773-8775)aaC>aaT p.N2925N NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2925 LDL-receptor class A 20. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGCTCTGCAACGGCCAGGATG 0.637000 16 40 0 0 1 0 0 LPCAT3 10162 broad.mit.edu 37 12 7086308 7086308 + Nonstop_Mutation SNP T T G TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr12:7086308T>G ENST00000261407.4 - 12 1549 c.1464A>C c.(1462-1464)taA>taC p.*488Y U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_5'UTR NM_005768.5 NP_005759.4 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 0 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 17 GGGAAATGGATTATTCCATCT 0.368000 19 45 0 0 1 0 0 SLC17A6 57084 broad.mit.edu 37 11 22396360 22396360 + Silent SNP A A G TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr11:22396360A>G ENST00000263160.3 + 9 1538 c.1101A>G c.(1099-1101)ggA>ggG p.G367G NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 367 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 CTATTGGGGGACAAATTGCAG 0.388000 45 113 0 0 1 0 0 PTPN12 5782 broad.mit.edu 37 7 77256458 77256458 + Missense_Mutation SNP G G A TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr7:77256458G>A ENST00000248594.6 + 13 1734 c.1462G>A c.(1462-1464)Ggt>Agt p.G488S PTPN12_ENST00000415482.2_Missense_Mutation_p.G369S|PTPN12_ENST00000435495.2_Missense_Mutation_p.G358S NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 488 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 TCTAAATGTCGGTGATACTTC 0.383000 4 63 0 0 1 0 0 TMEM63A 9725 broad.mit.edu 37 1 226034840 226034842 + In_Frame_Del DEL CTG CTG - TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr1:226034840_226034842delCTG ENST00000366835.3 - 24 2593_2595 c.2323_2325delCAG c.(2323-2325)del p.Q775del NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 775 integral to membrane|lysosomal membrane nucleotide binding p.Q775delQ(1) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CACCATAGGTCTGCTGCTGCTGC 0.626 7 126 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195703972 195703973 + RNA DEL AG AG - TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr3:195703972_195703973delAG ENST00000427841.1 - 0 1171_1172 NR_003264.2 GCGGATCTCCAGAGTCATCCAC 0.574 4 5 --- --- --- --- CCT6P3 643180 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 2 4 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93540315 93540316 + Frame_Shift_Ins INS - - A TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr15:93540315_93540316insA ENST00000394196.4 + 29 4792_4793 c.3724_3725insA c.(3724-3726)aaafs p.K1242fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1242fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1242 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GGACCCTGAAGAAAAAAAAAAG 0.347 8 69 --- --- --- --- TNFAIP1 7126 broad.mit.edu 37 17 26671480 26671492 + Frame_Shift_Del DEL GCCACAAGCCGTA GCCACAAGCCGTA - TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr17:26671480_26671492delGCCACAAGCCGTA ENST00000226225.2 + 7 1072_1084 c.805_817delGCCACAAGCCGTA c.(805-819)gcfs p.ATSRS269fs TNFAIP1_ENST00000544907.2_Frame_Shift_Del_p.ATSRS165fs|TNFAIP1_ENST00000583213.1_3'UTR NM_021137.4 NP_066960.1 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 (endothelial) 269 apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 12 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CTTGTTGGAGGCCACAAGCCGTAGCCGCAGCCA 0.592 8 21 --- --- --- --- KRTAP9-9 81870 broad.mit.edu 37 17 39411670 39411671 + In_Frame_Ins INS - - ACCTGCTGCAGGACC rs58108918 TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr17:39411670_39411671insACCTGCTGCAGGACC ENST00000394008.1 + 1 35_36 c.33_34insACCTGCTGCAGGACC c.(31-36)cccctg>ccACCTGCTGCAGGACCcctg p.10_11insPPAAG NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 10 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GCTGTCAGCCTACCTGCTGCAG 0.604 7 30 --- --- --- --- PPM1E 22843 broad.mit.edu 37 17 56833457 56833458 + In_Frame_Ins INS - - GAACCC rs72376816 by1000genomes TCGA-S7-A7X2-01A-12D-A35I-08 TCGA-S7-A7X2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a75eae-4aa4-4d54-b180-d5dd16e85424 1c55bf22-500e-4742-a4ad-9d0a39aa97fe g.chr17:56833457_56833458insGAACCC ENST00000308249.2 + 1 228_229 c.99_100insGAACCC c.(97-102)ccaacc>ccGAACCCaacc p.32_33insPN NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 32 11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) agccggagccggaacccgaacc 0.673 6 4 --- --- --- ---