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 SLCO5A1 81796 broad.mit.edu 37 8 70667733 70667733 + Missense_Mutation SNP A A T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr8:70667733A>T ENST00000260126.3 - 4 1890 c.1184T>A c.(1183-1185)cTg>cAg p.L395Q SLCO5A1_ENST00000524945.1_Missense_Mutation_p.L395Q|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L395Q NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 395 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TTTCTCCTTCAGAACATCGTC 0.353000 33 2 0 0 1 0 0 PRNT 0 broad.mit.edu 37 20 4713271 4713271 + Missense_Mutation SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr20:4713271G>A ENST00000326539.2 - 2 989 c.52C>T c.(52-54)Ctt>Ttt p.L18F PRNT_ENST00000418528.1_Missense_Mutation_p.L18F|PRNT_ENST00000423718.2_Missense_Mutation_p.L18F endometrium(2)|lung(5) 7 aggtggagaagatgggaaaga 0.478000 12 13 0 0 1 0 0 PTBP2 58155 broad.mit.edu 37 1 97217030 97217030 + Missense_Mutation SNP C C G rs190645 TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr1:97217030C>G ENST00000236228.6 + 3 171 c.89C>G c.(88-90)tCt>tGt p.S30C PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000370198.1_Missense_Mutation_p.S30C|PTBP2_ENST00000541987.1_5'UTR|PTBP2_ENST00000426398.2_Missense_Mutation_p.S30C|PTBP2_ENST00000394184.3_Missense_Mutation_p.S41C|PTBP2_ENST00000370197.1_Missense_Mutation_p.S30C NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 30 nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) AGTCCGAACTCTAATATGAGC 0.358000 4 151 0 0 1 0 0 FOSB 2354 broad.mit.edu 37 19 45975905 45975905 + Missense_Mutation SNP C C G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr19:45975905C>G ENST00000353609.3 + 4 1244 c.652C>G c.(652-654)Cac>Gac p.H218D ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000591858.1_Missense_Mutation_p.H179D|FOSB_ENST00000586615.1_Missense_Mutation_p.H169D|FOSB_ENST00000585836.1_Missense_Mutation_p.H143D|FOSB_ENST00000592436.1_Missense_Mutation_p.218_218insD|FOSB_ENST00000592811.1_Missense_Mutation_p.169_169insD|FOSB_ENST00000417353.2_Missense_Mutation_p.H182D|FOSB_ENST00000443841.2_Missense_Mutation_p.H75D NM_006732.2 NP_006723.2 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 218 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) GCTGGTGGCCCACAAACCGGG 0.607000 5 11 0 0 1 0 0 GLP2R 9340 broad.mit.edu 37 17 9765343 9765343 + Missense_Mutation SNP G G C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr17:9765343G>C ENST00000262441.5 + 9 1505 c.992G>C c.(991-993)tGg>tCg p.W331S GLP2R_ENST00000574745.1_Missense_Mutation_p.W151S NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 331 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) CTTAGGTGCTGGACAACAAAT 0.468000 6 104 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121383460 121383460 + Missense_Mutation SNP C C A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr8:121383460C>A ENST00000297848.3 + 48 5651 c.5381C>A c.(5380-5382)cCt>cAt p.P1794H COL14A1_ENST00000247781.3_Missense_Mutation_p.P1699H NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1794 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CTGTGGGGCCCTGGAGTCTGA 0.478000 8 113 1.12685e-05 1.20034e-05 1 1 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 5 62 0 0 1 0 0 MTHFD2L 441024 broad.mit.edu 37 4 75041108 75041108 + Silent SNP T T C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr4:75041108T>C ENST00000395759.2 + 3 466 c.439T>C c.(439-441)Tta>Cta p.L147L MTHFD2L_ENST00000331145.6_Silent_p.L89L|MTHFD2L_ENST00000433372.1_Silent_p.L12L|MTHFD2L_ENST00000325278.6_Silent_p.L89L NM_001144978.1 NP_001138450.1 Q9H903 MTD2L_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like 89 folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2) 8 all cancers(17;0.0101)|Lung(101;0.196) ATTAGTTCAGTTACCACTACC 0.353000 5 113 0 0 1 0 0 OIT3 170392 broad.mit.edu 37 10 74673065 74673065 + Splice_Site SNP G G C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr10:74673065G>C ENST00000334011.5 + 6 1008 c.e6-1 NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) TTTCTCTGCAGTCCCTGTGTT 0.502000 97 138 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38813481 38813481 + Silent SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr6:38813481C>T ENST00000359357.3 + 34 4580 c.4326C>T c.(4324-4326)acC>acT p.T1442T DNAH8_ENST00000449981.2_Silent_p.T1659T|DNAH8_ENST00000441566.1_Silent_p.T1442T dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCAAAGGAACCGAATCGGGAG 0.388000 6 113 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 54 0 0 1 0 0 SPRED2 200734 broad.mit.edu 37 2 65541129 65541129 + Missense_Mutation SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr2:65541129C>T ENST00000356388.4 - 6 952 c.763G>A c.(763-765)Gcc>Acc p.A255T SPRED2_ENST00000443619.2_Missense_Mutation_p.A252T NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 255 KBD. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 TCGCCCTTGGCGAAGCGCACG 0.642000 9 147 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G C rs121913499 TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr2:209113113G>C ENST00000415913.1 - 4 775 c.394C>G c.(394-396)Cgt>Ggt p.R132G IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 38 50 0 0 1 0 0 DAPL1 92196 broad.mit.edu 37 2 159660849 159660849 + Silent SNP A A G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr2:159660849A>G ENST00000309950.3 + 2 170 c.114A>G c.(112-114)agA>agG p.R38R DAPL1_ENST00000409042.1_Silent_p.R38R NM_001017920.2 NP_001017920.2 A0PJW8 DAPL1_HUMAN death associated protein-like 1 38 apoptosis|cell differentiation prostate(1) 1 CCTTGGAAAGACATACCAAAA 0.378000 3 23 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42360958 42360958 + Missense_Mutation SNP C C A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr14:42360958C>A ENST00000298119.4 + 4 3080 c.1891C>A c.(1891-1893)Cct>Act p.P631T LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 631 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TGCTTTGCCTCCTTCCTGGAC 0.453000 HNSCC(30;0.082) 4 55 0.014758 0.0149615 1 1 0 IL10 3586 broad.mit.edu 37 1 206944736 206944736 + Silent SNP A A G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr1:206944736A>G ENST00000423557.1 - 2 248 c.190T>C c.(190-192)Ttg>Ctg p.L64L NM_000572.2 NP_000563.1 P22301 IL10_HUMAN interleukin 10 64 anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response extracellular space cytokine activity|growth factor activity|interleukin-10 receptor binding endometrium(1)|large_intestine(6)|lung(4)|prostate(1) 12 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) TTTAACAACAAGTtgtccagc 0.488000 9 17 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 145160391 145160391 + Missense_Mutation SNP A A C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr6:145160391A>C ENST00000367545.3 + 71 10148 c.10148A>C c.(10147-10149)gAt>gCt p.D3383A UTRN_ENST00000367526.4_Missense_Mutation_p.D938A NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 3383 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CTTGATCCAGATGCCTCCGGC 0.537000 21 32 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42169508 42169508 + Missense_Mutation SNP A A G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr15:42169508A>G ENST00000320955.6 - 18 3744 c.3517T>C c.(3517-3519)Tgc>Cgc p.C1173R NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1173 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GAGTCTGGGCAGTCCAAGGCT 0.632000 7 9 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51465711 51465711 + Missense_Mutation SNP C C G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr8:51465711C>G ENST00000522124.1 + 12 1443 c.782C>G c.(781-783)aCt>aGt p.T261S SNTG1_ENST00000276467.5_Missense_Mutation_p.T261S|SNTG1_ENST00000517473.1_Missense_Mutation_p.T261S|SNTG1_ENST00000518864.1_Missense_Mutation_p.T261S NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 261 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GCAATAGCAACTAACATTTCA 0.413000 9 37 0 0 1 0 0 CREB3L3 84699 broad.mit.edu 37 19 4164517 4164517 + Silent SNP G G T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr19:4164517G>T ENST00000078445.2 + 5 741 c.594G>T c.(592-594)ggG>ggT p.G198G CREB3L3_ENST00000602257.1_Silent_p.G196G|CREB3L3_ENST00000252587.3_Silent_p.G138G|CREB3L3_ENST00000595923.1_Silent_p.G197G|CREB3L3_ENST00000602147.1_Silent_p.G198G NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 198 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) ATCACCTGGGGGCCTCCTACC 0.567000 7 99 0.00448238 0.00460776 1 1 0 INADL 10207 broad.mit.edu 37 1 62586969 62586969 + Splice_Site SNP T T C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr1:62586969T>C ENST00000371158.2 + 38 5119 c.e38+2 INADL_ENST00000472512.1_Splice_Site NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 AAAATTCAGGTATTACACGGA 0.383000 5 61 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 67 0 0 1 0 0 CYP26B1 56603 broad.mit.edu 37 2 72371209 72371209 + Missense_Mutation SNP A A G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr2:72371209A>G ENST00000001146.2 - 2 541 c.338T>C c.(337-339)gTg>gCg p.V113A CYP26B1_ENST00000546307.1_Intron NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 113 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 CTCGGTGCTCACGAGGTGGTG 0.607000 7 132 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56181765 56181765 + Missense_Mutation SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr5:56181765C>T ENST00000399503.3 + 17 3989 c.3989C>T c.(3988-3990)tCg>tTg p.S1330L NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 1330 Protein kinase. cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) ATAGGGGGATCGGTGGCTCAT 0.343000 27 45 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43240043 43240043 + Missense_Mutation SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr21:43240043C>T ENST00000422911.1 - 19 2427 c.2326G>A c.(2326-2328)Gcc>Acc p.A776T PRDM15_ENST00000398548.1_Missense_Mutation_p.A756T|PRDM15_ENST00000447207.2_Missense_Mutation_p.A719T|PRDM15_ENST00000269844.3_Missense_Mutation_p.A1085T|PRDM15_ENST00000538201.1_Missense_Mutation_p.A739T P57071 PRD15_HUMAN PR domain containing 15 1085 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 TGCTCGCAGGCGTGGCTCTTC 0.602000 6 6 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52819072 52819072 + Missense_Mutation SNP C C G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr3:52819072C>G ENST00000273283.2 + 12 1444 c.1420C>G c.(1420-1422)Cag>Gag p.Q474E ITIH1_ENST00000540715.1_Missense_Mutation_p.Q332E|ITIH1_ENST00000537050.1_Missense_Mutation_p.Q186E|ITIH1_ENST00000542827.1_Missense_Mutation_p.Q474E NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 474 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TTTCTACAGCCAGGTAGCCAA 0.557000 27 83 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 31983348 31983348 + Silent SNP T T C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr5:31983348T>C ENST00000438447.1 + 3 952 c.564T>C c.(562-564)aaT>aaC p.N188N PDZD2_ENST00000282493.3_Silent_p.N188N O15018 PDZD2_HUMAN PDZ domain containing 2 188 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CCACTTATAATGGCAACAGTA 0.507000 4 70 0 0 1 0 0 OR6A2 8590 broad.mit.edu 37 11 6816496 6816496 + Silent SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr11:6816496C>T ENST00000332601.3 - 1 632 c.444G>A c.(442-444)caG>caA p.Q148Q NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAGCAGCCATCTGCACACACA 0.512000 7 77 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47514615 47514615 + Missense_Mutation SNP A A G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr4:47514615A>G ENST00000273859.3 + 2 327 c.58A>G c.(58-60)Acc>Gcc p.T20A ATP10D_ENST00000504445.1_Missense_Mutation_p.T20A NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 20 ATP biosynthetic process|cation transport 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(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CAGAGGTGCAACCAGGGATGA 0.537000 4 31 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 7 0.115264 0.115264 1 1 0 SYT10 341359 broad.mit.edu 37 12 33532801 33532801 + Missense_Mutation SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr12:33532801C>T ENST00000228567.3 - 6 1762 c.1466G>A c.(1465-1467)cGa>cAa p.R489Q SYT10_ENST00000535526.1_Missense_Mutation_p.R308Q NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 489 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.R489Q(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TATTGGTTTTCGATGATAGGC 0.453000 64 76 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120343820 120343820 + Missense_Mutation SNP A A G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr11:120343820A>G ENST00000397843.2 + 31 3183 c.3017A>G c.(3016-3018)aAt>aGt p.N1006S ARHGEF12_ENST00000356641.3_Missense_Mutation_p.N987S|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.N903S NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1006 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) GAGTACCCAAATGTTGAAGAG 0.408000 T MLL AML 17 245 0 0 1 0 0 TPPP2 122664 broad.mit.edu 37 14 21498757 21498757 + Missense_Mutation SNP A A C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr14:21498757A>C ENST00000321760.6 + 2 165 c.17A>C c.(16-18)gAa>gCa p.E6A TPPP2_ENST00000460647.2_Missense_Mutation_p.E6A|NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.E6A NM_173846.4 NP_776245.2 P59282 TPPP2_HUMAN tubulin polymerization-promoting protein family member 2 6 cytoplasm endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) TCAGAGGCAGAAAAAACATTC 0.522000 10 13 0 0 1 0 0 MS4A4A 51338 broad.mit.edu 37 11 60070036 60070036 + Missense_Mutation SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr11:60070036G>A ENST00000355131.3 + 6 558 c.335G>A c.(334-336)cGa>cAa p.R112Q MS4A4A_ENST00000337908.4_Missense_Mutation_p.R131Q|MS4A4A_ENST00000532114.1_Intron|MS4A4A_ENST00000395016.3_Missense_Mutation_p.R112Q NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 131 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 TTCTAGGTCCGAGGTAGTCTA 0.398000 61 72 0 0 1 0 0 MIR373 0 broad.mit.edu 37 19 54291978 54291978 + RNA SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr19:54291978C>T ENST00000362273.1 + 0 20 NR_029866.1 AAAATGGGGGCGCTTTCCTTT 0.522000 6 1 0 0 1 0 0 IL36RN 26525 broad.mit.edu 37 2 113819754 113819754 + Missense_Mutation SNP G G A rs77864207 byFrequency TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr2:113819754G>A ENST00000393200.2 + 4 330 c.169G>A c.(169-171)Gtc>Atc p.V57I IL36RN_ENST00000346807.3_Missense_Mutation_p.V57I NM_012275.2 NP_036407.1 Q9UBH0 I36RA_HUMAN interleukin 36 receptor antagonist 57 extracellular space cytokine activity|interleukin-1 receptor antagonist activity large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 CCTGTCCCCCGTCATCCTGGG 0.622000 8 57 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22962444 22962444 + Missense_Mutation SNP C C G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr15:22962444C>G ENST00000313077.7 + 20 2289 c.2164C>G c.(2164-2166)Ctt>Gtt p.L722V CYFIP1_ENST00000435939.2_Missense_Mutation_p.L291V|CYFIP1_ENST00000560848.1_Missense_Mutation_p.L722V NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 722 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CACTAGTTTGCTTCTTGATAA 0.428000 6 44 0 0 1 0 0 COL6A1 1291 broad.mit.edu 37 21 47422160 47422160 + Missense_Mutation SNP G G T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr21:47422160G>T ENST00000361866.3 + 32 2209 c.2095G>T c.(2095-2097)Ggc>Tgc p.G699C COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 699 C-terminal globular domain.|VWFA 2. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GTGGATGGCGGGCGGCACCTT 0.701000 3 9 0.004672 0.00476933 1 1 0 CNTN1 1272 broad.mit.edu 37 12 41374766 41374766 + Silent SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr12:41374766G>A ENST00000551295.2 + 16 1977 c.1860G>A c.(1858-1860)gtG>gtA p.V620V CNTN1_ENST00000347616.1_Silent_p.V620V|CNTN1_ENST00000348761.2_Silent_p.V609V NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 620 Fibronectin type-III 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CCACTTCTGTGGCACTTACTT 0.433000 63 64 0 0 1 0 0 HOGA1 112817 broad.mit.edu 37 10 99344652 99344652 + Silent SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr10:99344652G>A ENST00000370646.4 + 1 553 c.192G>A c.(190-192)ctG>ctA p.L64L PI4K2A_ENST00000555577.1_Silent_p.L64L|HOGA1_ENST00000370647.4_Silent_p.L64L|PI4K2A_ENST00000370649.3_Silent_p.L64L NM_138413.3 NP_612422.2 4-hydroxy-2-oxoglutarate aldolase 1 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1) 14 TGCACAAACTGGGCACCTTCC 0.587000 3 37 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20950023 20950023 + Missense_Mutation SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr11:20950023G>A ENST00000298925.5 + 10 1232 c.1079G>A c.(1078-1080)cGa>cAa p.R360Q NELL1_ENST00000532434.1_Missense_Mutation_p.R332Q|NELL1_ENST00000357134.5_Missense_Mutation_p.R332Q|NELL1_ENST00000325319.5_Missense_Mutation_p.R275Q Q92832 NELL1_HUMAN NEL-like 1 (chicken) 332 VWFC 2. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity p.R332Q(1) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AAGGTCTGCCGACGTAAGTAC 0.488000 21 22 0 0 1 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726539 25726539 + Missense_Mutation SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr6:25726539C>T ENST00000297012.3 - 1 251 c.217G>A c.(217-219)Gat>Aat p.D73N NM_170745.3 NP_734466.1 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 73 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 TTTTTGTTATCGCGAGACGCA 0.537000 52 57 0 0 1 0 0 ATG5 9474 broad.mit.edu 37 6 106727551 106727551 + Missense_Mutation SNP T T C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr6:106727551T>C ENST00000369076.3 - 5 786 c.463A>G c.(463-465)Atg>Gtg p.M155V ATG5_ENST00000360666.4_Intron|ATG5_ENST00000369070.1_Missense_Mutation_p.M77V|ATG5_ENST00000343245.3_Missense_Mutation_p.M155V NM_004849.2 NP_004840.1 Q9H1Y0 ATG5_HUMAN autophagy related 5 155 apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification autophagic vacuole|pre-autophagosomal structure membrane protein binding endometrium(1)|large_intestine(5)|lung(1)|prostate(1) 8 Breast(9;0.0296) all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216) BRCA - Breast invasive adenocarcinoma(8;0.00802) OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18) TGCAATCCCATCCAGAGTTGC 0.303000 50 91 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053124 85053124 + RNA SNP G G T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr15:85053124G>T ENST00000414190.2 - 0 328 NR_003246.2 TAAATGTTTTGTTTTTTTTTT 0.353000 4 9 0.0215528 0.0217004 1 1 0 KIRREL3 84623 broad.mit.edu 37 11 126314950 126314950 + Silent SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr11:126314950G>A ENST00000525144.2 - 10 1425 c.1176C>T c.(1174-1176)gaC>gaT p.D392D KIRREL3_ENST00000525704.2_Silent_p.D392D|KIRREL3_ENST00000529097.2_Silent_p.D392D NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 392 Ig-like C2-type 4. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) ACTTGCCCGCGTCCTCCTGGC 0.637000 6 86 0 0 1 0 0 CHRNA1 1134 broad.mit.edu 37 2 175618317 175618317 + Missense_Mutation SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr2:175618317G>A ENST00000348749.5 - 6 769 c.692C>T c.(691-693)cCc>cTc p.P231L CHRNA1_ENST00000409219.1_Missense_Mutation_p.P231L|CHRNA1_ENST00000261007.5_Missense_Mutation_p.P256L|CHRNA1_ENST00000409542.1_Missense_Mutation_p.P149L|CHRNA1_ENST00000409323.1_Missense_Mutation_p.P231L|AC018890.6_ENST00000442996.1_RNA NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 256 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 GAAGTAGAGGGGCAGGCGCTG 0.582000 9 118 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52646145 52646145 + Missense_Mutation SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr15:52646145C>T ENST00000399231.3 - 26 3733 c.3490G>A c.(3490-3492)Gag>Aag p.E1164K MYO5A_ENST00000553916.1_Missense_Mutation_p.E1164K|MYO5A_ENST00000358212.6_Missense_Mutation_p.E1164K|MYO5A_ENST00000356338.6_Missense_Mutation_p.E1164K|MYO5A_ENST00000399233.2_Missense_Mutation_p.E1164K NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1164 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TGCTCCAGCTCTGTGACCCGC 0.557000 54 67 0 0 1 0 0 DCAF17 80067 broad.mit.edu 37 2 172314562 172314562 + Missense_Mutation SNP A A G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr2:172314562A>G ENST00000375255.3 + 7 1036 c.709A>G c.(709-711)Agc>Ggc p.S237G DCAF17_ENST00000539783.1_Missense_Mutation_p.S237G|DCAF17_ENST00000468592.1_3'UTR NM_025000.3 NP_079276.2 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 237 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17 CAGACTCTATAGCTTCCAAAC 0.398000 148 156 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 7 363 0 0 1 0 0 CATSPERG 57828 broad.mit.edu 37 19 38858170 38858170 + Missense_Mutation SNP T T C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr19:38858170T>C ENST00000409235.3 + 24 2907 c.2792T>C c.(2791-2793)aTt>aCt p.I931T CATSPERG_ENST00000410018.1_Missense_Mutation_p.I891T|CATSPERG_ENST00000215069.4_3'UTR NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 931 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 TTCTTCTTGATTCAAGATTTG 0.547000 5 860 0 0 1 0 0 TCERG1L 256536 broad.mit.edu 37 10 132944910 132944910 + Missense_Mutation SNP T T C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr10:132944910T>C ENST00000368642.4 - 7 1133 c.1048A>G c.(1048-1050)Acg>Gcg p.T350A NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 350 WW 2. cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) TCATCGCCCGTCCAGACCACA 0.507000 6 48 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51750674 51750674 + Silent SNP A A T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr6:51750674A>T ENST00000371117.3 - 45 7481 c.7206T>A c.(7204-7206)ggT>ggA p.G2402G PKHD1_ENST00000340994.4_Silent_p.G2402G NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2402 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CCTGGGCACCACCTGCACTTT 0.388000 18 27 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38958370 38958370 + Missense_Mutation SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr19:38958370G>A ENST00000355481.4 + 25 3430 c.3299G>A c.(3298-3300)cGc>cAc p.R1100H RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H|RYR1_ENST00000359596.3_Missense_Mutation_p.R1100H NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1100 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGCGAGATGCGCGTGGGCTGG 0.627000 43 106 0 0 1 0 0 GPR119 139760 broad.mit.edu 37 X 129519181 129519181 + Missense_Mutation SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chrX:129519181G>A ENST00000276218.2 - 1 330 c.241C>T c.(241-243)Cgg>Tgg p.R81W NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 81 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 AATGCCATCCGCAGGCTGCAC 0.582000 8 78 0 0 1 0 0 PLXDC1 57125 broad.mit.edu 37 17 37264410 37264410 + Silent SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr17:37264410G>A ENST00000315392.4 - 5 769 c.558C>T c.(556-558)taC>taT p.Y186Y PLXDC1_ENST00000539608.1_Silent_p.Y113Y|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.Y146Y|PLXDC1_ENST00000394316.2_Silent_p.Y186Y NM_020405.4 NP_065138.2 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 186 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 AGTTGTCGGAGTAGCCAGGGT 0.522000 77 83 0 0 1 0 0 AKR7L 246181 broad.mit.edu 37 1 19595113 19595113 + RNA SNP T T G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr1:19595113T>G ENST00000420396.2 - 0 589 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 GCCGAGGTCATGCTGGGAGCG 0.632000 27 41 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370406 86370406 + Missense_Mutation SNP G G T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr13:86370406G>T ENST00000400286.2 - 2 836 c.238C>A c.(238-240)Cac>Aac p.H80N NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 80 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TCATTTGTGTGAAGCATCGTC 0.378000 12 142 5.50884e-06 5.91094e-06 1 1 0 KIAA1456 57604 broad.mit.edu 37 8 12879417 12879417 + Missense_Mutation SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr8:12879417G>A ENST00000524591.2 + 5 1718 c.1229G>A c.(1228-1230)cGc>cAc p.R410H KIAA1456_ENST00000447063.2_Intron NM_001099677.1|NM_020844.2 NP_001093147.1|NP_065895.2 Q9P272 K1456_HUMAN KIAA1456 410 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 GCCTTTATGCGCTACTACCAT 0.468000 7 40 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21422506 21422506 + Silent SNP A A G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr12:21422506A>G ENST00000307378.6 - 16 2709 c.1989T>C c.(1987-1989)gaT>gaC p.D663D SLCO1A2_ENST00000458504.1_Silent_p.D531D|SLCO1A2_ENST00000537524.1_Silent_p.D531D|SLCO1A2_ENST00000452078.1_Silent_p.D663D NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 663 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TCAATTCATCATCTTTCAAAA 0.308000 36 64 0 0 1 0 0 TRIM15 89870 broad.mit.edu 37 6 30139894 30139894 + Missense_Mutation SNP T T C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr6:30139894T>C ENST00000376694.4 + 7 1635 c.1166T>C c.(1165-1167)gTg>gCg p.V389A TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 389 B30.2/SPRY. mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 GTCTGGGCCGTGATCATCTCG 0.726000 3 5 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7691251 7691251 + Missense_Mutation SNP C C A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr4:7691251C>A ENST00000507866.2 + 11 1636 c.1527C>A c.(1525-1527)gaC>gaA p.D509E SORCS2_ENST00000329016.9_Missense_Mutation_p.D337E NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 509 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 GCTGGGCAGACAACCCCTACG 0.587000 5 6 1.024e-07 1.11502e-07 1 1 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 6 111 0 0 1 0 0 SLC16A6 9120 broad.mit.edu 37 17 66267601 66267601 + Missense_Mutation SNP A A G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr17:66267601A>G ENST00000327268.4 - 6 864 c.700T>C c.(700-702)Tca>Cca p.S234P ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.S234P NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 234 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) GAGTCTATTGAGGTTCGTGTT 0.458000 12 210 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10470682 10470682 + Missense_Mutation SNP A A G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr8:10470682A>G ENST00000382483.3 - 4 1149 c.926T>C c.(925-927)aTg>aCg p.M309T NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 309 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTTCTTCTTCATGTCATCGCC 0.652000 8 113 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216292929 216292929 + Missense_Mutation SNP T T C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr2:216292929T>C ENST00000354785.4 - 6 1187 c.818A>G c.(817-819)cAc>cGc p.H273R FN1_ENST00000359671.1_Missense_Mutation_p.H273R|FN1_ENST00000357867.4_Missense_Mutation_p.H273R|FN1_ENST00000356005.4_Missense_Mutation_p.H273R|FN1_ENST00000346544.3_Missense_Mutation_p.H273R|FN1_ENST00000345488.5_Missense_Mutation_p.H273R|FN1_ENST00000336916.4_Missense_Mutation_p.H273R|FN1_ENST00000426059.1_Missense_Mutation_p.H273R|FN1_ENST00000323926.6_Missense_Mutation_p.H273R|FN1_ENST00000357009.2_Missense_Mutation_p.H273R|FN1_ENST00000446046.1_Missense_Mutation_p.H273R|FN1_ENST00000443816.1_Missense_Mutation_p.H273R|FN1_ENST00000432072.2_Missense_Mutation_p.H273R|FN1_ENST00000421182.1_Missense_Mutation_p.H273R P02751 FINC_HUMAN fibronectin 1 273 Fibronectin type-I 5. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACAGAGGTGTGCCTCTCACA 0.537000 45 46 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 4 66 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803480 142803480 + RNA SNP T T C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr1:142803480T>C ENST00000423385.1 - 0 1485 GATTTTAATATTCTGTACATT 0.343000 7 58 0 0 1 0 0 SARS2 54938 broad.mit.edu 37 19 39421358 39421358 + Missense_Mutation SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr19:39421358G>A ENST00000221431.6 - 1 178 c.19C>T c.(19-21)Cgg>Tgg p.R7W SARS2_ENST00000448145.2_Intron|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000430193.3_Missense_Mutation_p.R7W|SARS2_ENST00000600042.1_Missense_Mutation_p.R7W NM_017827.3 NP_060297.1 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2, mitochondrial 7 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CACAAGCGCCGCGCCATGGAC 0.607000 OREG0025455 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 44 0 0 1 0 0 HAS3 3038 broad.mit.edu 37 16 69148261 69148261 + Missense_Mutation SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr16:69148261G>A ENST00000306560.1 + 4 910 c.754G>A c.(754-756)Gac>Aac p.D252N HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.D252N NM_005329.2 NP_005320.2 O00219 HAS3_HUMAN hyaluronan synthase 3 252 carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2) 16 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) CAACAAGTACGACTCATGGAT 0.557000 69 75 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39353431 39353431 + Missense_Mutation SNP T T C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr6:39353431T>C ENST00000287152.7 - 16 1922 c.1828A>G c.(1828-1830)Atc>Gtc p.I610V KIF6_ENST00000373216.3_Missense_Mutation_p.I610V|KIF6_ENST00000394362.1_Missense_Mutation_p.I61V|KIF6_ENST00000229913.5_Missense_Mutation_p.I61V|KIF6_ENST00000373213.4_Missense_Mutation_p.I449V|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000541946.1_Missense_Mutation_p.I61V|KIF6_ENST00000538893.1_Missense_Mutation_p.I554V NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 610 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CGCTGGGTGATTTCTTCCTTC 0.463000 36 34 0 0 1 0 0 SAMD1 90378 broad.mit.edu 37 19 14199775 14199775 + Silent SNP G G C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr19:14199775G>C ENST00000533683.2 - 3 1232 c.945C>G c.(943-945)acC>acG p.T315T NM_138352.1 NP_612361.1 Q6SPF0 SAMD1_HUMAN sterile alpha motif domain containing 1 421 cytoplasm|extracellular region endometrium(3) 3 Renal(1328;0.00183)|Hepatocellular(1079;0.00826) GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199) AGTCTGGCCCGGTGGCAACAG 0.612000 5 16 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47976553 47976553 + Missense_Mutation SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr6:47976553C>T ENST00000543600.1 - 2 712 c.673G>A c.(673-675)Gtg>Atg p.V225M PTCHD4_ENST00000339488.4_Missense_Mutation_p.V242M Q6ZW05 CF138_HUMAN patched domain containing 4 242 integral to membrane hedgehog receptor activity AGGATCAGCACGAGGCTCACC 0.562000 11 49 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24975421 24975421 + Missense_Mutation SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr1:24975421G>A ENST00000323848.9 + 4 621 c.306G>A c.(304-306)atG>atA p.M102I SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.M102I|SRRM1_ENST00000447431.2_Missense_Mutation_p.M102I|SRRM1_ENST00000537199.1_Start_Codon_SNP_p.M1I NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 102 Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|PWI. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) GAGAATTTATGGGAGAACTGT 0.413000 11 243 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95185843 95185843 + Missense_Mutation SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr10:95185843C>T ENST00000371501.4 - 5 540 c.418G>A c.(418-420)Gtg>Atg p.V140M MYOF_ENST00000371489.1_Missense_Mutation_p.V140M|MYOF_ENST00000359263.4_Missense_Mutation_p.V140M|MYOF_ENST00000371488.3_Missense_Mutation_p.V140M|MYOF_ENST00000358334.5_Missense_Mutation_p.V140M|MYOF_ENST00000371502.4_Missense_Mutation_p.V140M Q9NZM1 MYOF_HUMAN myoferlin 140 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 ATGCCTGGCACGCTGGGCCCG 0.562000 3 1 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 7 98 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134993931 134993931 + Missense_Mutation SNP T T G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chrX:134993931T>G ENST00000535938.1 + 18 2507 c.2340T>G c.(2338-2340)gaT>gaG p.D780E SAGE1_ENST00000324447.3_Missense_Mutation_p.D780E|SAGE1_ENST00000537770.1_Missense_Mutation_p.D404E|SAGE1_ENST00000370709.3_Missense_Mutation_p.D780E NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 780 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) ACAAACCTGATAGTAATGAAT 0.428000 27 138 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 14 0 0 1 0 0 GLOD4 51031 broad.mit.edu 37 17 663455 663455 + Silent SNP G G A rs116004401 by1000genomes TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr17:663455G>A ENST00000301329.6 - 9 940 c.855C>T c.(853-855)gaC>gaT p.D285D GLOD4_ENST00000301328.5_Silent_p.D300D|GLOD4_ENST00000536578.1_Silent_p.D276D NM_016080.3 NP_057164.3 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 300 mitochondrion endometrium(1)|large_intestine(1)|prostate(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) CAAACCACTCGTCACTTTTAT 0.438000 9 65 0 0 1 0 0 BTNL3 10917 broad.mit.edu 37 5 180432528 180432528 + Missense_Mutation SNP T T A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr5:180432528T>A ENST00000342868.6 + 8 1241 c.1057T>A c.(1057-1059)Tgg>Agg p.W353R NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 353 B30.2/SPRY. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) AAATGTAGGGTGGTATGTGGG 0.493000 37 88 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82242351 82242351 + Silent SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr9:82242351C>T ENST00000376520.4 + 6 1206 c.378C>T c.(376-378)aaC>aaT p.N126N TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376544.3_Silent_p.N126N|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Silent_p.N126N|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376537.4_Silent_p.N126N O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CAGAACTGAACGCCATCATTG 0.458000 5 107 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152327955 152327955 + Silent SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr1:152327955G>A ENST00000388718.5 - 3 2379 c.2307C>T c.(2305-2307)agC>agT p.S769S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 769 Ser-rich. calcium ion binding|structural molecule activity p.S769S(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTGGCCATAGCTAGACTGAC 0.517000 7 699 0 0 1 0 0 PAPD4 167153 broad.mit.edu 37 5 78919187 78919187 + Silent SNP A A C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr5:78919187A>C ENST00000453514.1 + 4 1033 c.340A>C c.(340-342)Aga>Cga p.R114R PAPD4_ENST00000504233.1_Silent_p.R114R|PAPD4_ENST00000428308.2_Silent_p.R114R|PAPD4_ENST00000296783.3_Silent_p.R114R|PAPD4_ENST00000423041.2_Silent_p.R114R NM_001114394.1 NP_001107866.1 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 114 histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) AGGTGAACGAAGATACTCAAT 0.398000 5 190 0 0 1 0 0 RRN3P1 0 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 6 83 0 0 1 0 0 ZNF730 100129543 broad.mit.edu 37 19 23318760 23318760 + Silent SNP C C G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr19:23318760C>G ENST00000597761.2 + 3 340 c.141C>G c.(139-141)gtC>gtG p.V47V ZNF730_ENST00000593635.1_Silent_p.V15V NM_001277403.1 NP_001264332.1 zinc finger protein 730 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 GTATTGCTGTCTCAAAGCCAG 0.383000 5 102 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94640187 94640187 + Silent SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr1:94640187C>T ENST00000260526.6 - 23 3206 c.3024G>A c.(3022-3024)agG>agA p.R1008R NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 1008 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTGGAGTATGCCTCTCCACAT 0.418000 4 151 0 0 1 0 0 SLC25A19 60386 broad.mit.edu 37 17 73273487 73273487 + Nonsense_Mutation SNP T T A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr17:73273487T>A ENST00000402418.3 - 5 1630 c.721A>T c.(721-723)Aag>Tag p.K241* SLC25A19_ENST00000416858.2_Nonsense_Mutation_p.K241*|SLC25A19_ENST00000320362.3_Nonsense_Mutation_p.K241*|SLC25A19_ENST00000442286.2_Nonsense_Mutation_p.K241*|SLC25A19_ENST00000580994.1_Nonsense_Mutation_p.K241*|SLC25A19_ENST00000375261.4_Nonsense_Mutation_p.K184* Q9HC21 TPC_HUMAN solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 241 integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) AGCCGCTTCTTGAAGAGGTCC 0.557000 9 92 0 0 1 0 0 GPR182 11318 broad.mit.edu 37 12 57389177 57389177 + Missense_Mutation SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr12:57389177G>A ENST00000300098.1 + 2 403 c.184G>A c.(184-186)Gcc>Acc p.A62T NM_007264.3 NP_009195.1 O15218 GP182_HUMAN G protein-coupled receptor 182 62 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 15 CCTCTACCTGGCCATGTTTGT 0.587000 4 126 0 0 1 0 0 AFP 174 broad.mit.edu 37 4 74301968 74301968 + Translation_Start_Site SNP T T G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr4:74301968T>G ENST00000395792.2 + 0 89 AFP_ENST00000226359.2_De_novo_Start_OutOfFrame NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AATAACAAAATAACTAGCAAC 0.333000 Alpha-Fetoprotein, Hereditary Persistence of 22 25 0 0 1 0 0 MECP2 4204 broad.mit.edu 37 X 153297774 153297774 + Silent SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chrX:153297774G>A ENST00000303391.6 - 3 510 c.261C>T c.(259-261)atC>atT p.I87I MECP2_ENST00000453960.2_Silent_p.I99I|MECP2_ENST00000407218.1_Silent_p.I87I NM_004992.3 NP_004983.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 87 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGTCACGGATGATGGAGCGCC 0.617000 110 3 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7606923 7606923 + Missense_Mutation SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr19:7606923C>T ENST00000221249.6 + 13 1536 c.1105C>T c.(1105-1107)Cgc>Tgc p.R369C PNPLA6_ENST00000414982.3_Missense_Mutation_p.R417C|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R369C|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R369C|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R408C NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 408 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 TCTGCTGAGCCGCTGCGTCTC 0.642000 28 35 0 0 1 0 0 ARGFX 503582 broad.mit.edu 37 3 121303779 121303779 + Missense_Mutation SNP A A G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr3:121303779A>G ENST00000334384.3 + 3 246 c.236A>G c.(235-237)cAt>cGt p.H79R NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 79 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) CGGAGAAGGCATAAAGAACGT 0.418000 134 123 0 0 1 0 0 AGMAT 79814 broad.mit.edu 37 1 15905421 15905421 + Missense_Mutation SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr1:15905421C>T ENST00000375826.3 - 4 795 c.653G>A c.(652-654)cGt>cAt p.R218H DNAJC16_ENST00000483270.1_Intron NM_024758.4 NP_079034.3 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) 218 putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1) 12 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) CTGCACCACACGCTTACAGTC 0.627000 28 20 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43702219 43702219 + Silent SNP T T C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr19:43702219T>C ENST00000405312.3 - 3 876 c.639A>G c.(637-639)ggA>ggG p.G213G PSG4_ENST00000244295.9_Silent_p.G213G|PSG4_ENST00000433626.2_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 213 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) ATTCATAGGGTCCTGCAATAT 0.507000 14 131 0 0 1 0 0 SFMBT1 51460 broad.mit.edu 37 3 52940182 52940182 + Missense_Mutation SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr3:52940182G>A ENST00000394752.3 - 20 2789 c.2407C>T c.(2407-2409)Cgg>Tgg p.R803W SFMBT1_ENST00000394750.1_Missense_Mutation_p.R803W|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R803W|SFMBT1_ENST00000296295.6_Intron NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 803 SAM. regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CTGATGAACCGCACAACGTCT 0.418000 4 104 0 0 1 0 0 FABP3 2170 broad.mit.edu 37 1 31842368 31842368 + Missense_Mutation SNP G G C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr1:31842368G>C ENST00000373713.2 - 2 171 c.110C>G c.(109-111)aCc>aGc p.T37S FABP3_ENST00000497275.1_5'UTR NM_004102.3 NP_004093.1 P05413 FABPH_HUMAN fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) 37 negative regulation of cell proliferation large_intestine(1)|lung(2)|ovary(2) 5 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149) GGTAGGCTTGGTCATGCTGGC 0.493000 22 85 0 0 1 0 0 RIN3 79890 broad.mit.edu 37 14 93043731 93043731 + Silent SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr14:93043731C>T ENST00000216487.7 + 3 435 c.276C>T c.(274-276)agC>agT p.S92S RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 92 SH2. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) GGGACAGCAGCTCGAAGCAGC 0.512000 143 122 0 0 1 0 0 C3orf58 205428 broad.mit.edu 37 3 143708579 143708579 + Missense_Mutation SNP G G C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr3:143708579G>C ENST00000315691.3 + 3 1724 c.1189G>C c.(1189-1191)Gcc>Ccc p.A397P C3orf58_ENST00000495414.1_Missense_Mutation_p.A188P|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.A159P NM_173552.3 NP_775823.1 Q8NDZ4 CC058_HUMAN chromosome 3 open reading frame 58 397 COPI vesicle coat|extracellular region breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCGGCTCGAGGCCTTGCTGGA 0.507000 29 43 0 0 1 0 0 GPAA1 8733 broad.mit.edu 37 8 145138841 145138841 + Splice_Site SNP G G C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr8:145138841G>C ENST00000355091.4 + 5 635 c.e5-1 GPAA1_ENST00000361036.6_Splice_Site|GPAA1_ENST00000527144.1_Splice_Site NM_003801.3 NP_003792.1 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 1 attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTGGCCTCCAGGGCAGATTTA 0.577000 5 88 0 0 1 0 0 SGCD 6444 broad.mit.edu 37 5 156184747 156184747 + Missense_Mutation SNP G G C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr5:156184747G>C ENST00000447401.1 + 8 1250 c.731G>C c.(730-732)aGc>aCc p.S244T SGCD_ENST00000517913.1_Missense_Mutation_p.S244T|SGCD_ENST00000435422.3_Intron|SGCD_ENST00000337851.4_Intron NM_172244.2 NP_758447.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 0 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGTTCAAAGAGCTACAGCTTC 0.478000 4 4 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52646154 52646154 + Silent SNP G G T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr15:52646154G>T ENST00000399231.3 - 26 3724 c.3481C>A c.(3481-3483)Cgg>Agg p.R1161R MYO5A_ENST00000553916.1_Silent_p.R1161R|MYO5A_ENST00000358212.6_Silent_p.R1161R|MYO5A_ENST00000356338.6_Silent_p.R1161R|MYO5A_ENST00000399233.2_Silent_p.R1161R NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1161 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TCTGTGACCCGCTTCTGGAGC 0.552000 52 61 4.88482e-21 5.48144e-21 1 1 0 HNF1A 6927 broad.mit.edu 37 12 121434170 121434170 + Missense_Mutation SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr12:121434170C>T ENST00000257555.6 + 5 1287 c.1061C>T c.(1060-1062)aCg>aTg p.T354M HNF1A_ENST00000402929.1_Missense_Mutation_p.T354M|HNF1A_ENST00000544413.1_Missense_Mutation_p.T354M|HNF1A_ENST00000543427.1_Missense_Mutation_p.T237M|HNF1A_ENST00000400024.2_Missense_Mutation_p.T354M|HNF1A_ENST00000541395.1_Missense_Mutation_p.T354M|HNF1A_ENST00000538626.1_Intron P20823 HNF1A_HUMAN HNF1 homeobox A 354 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GTGTCCCCCACGGGCCTGGAG 0.587000 Hepatic Adenoma, Familial Clustering of 6 85 0 0 1 0 0 F2RL3 9002 broad.mit.edu 37 19 17000886 17000886 + Silent SNP G G T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr19:17000886G>T ENST00000248076.3 + 2 942 c.612G>T c.(610-612)gcG>gcT p.A204A F2RL3_ENST00000599210.1_3'UTR NM_003950.2 NP_003941.2 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 204 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GGCTCATGGCGGCCGCCCTGG 0.736000 3 49 0.00024832 0.000258887 1 1 0 MCM10 55388 broad.mit.edu 37 10 13234303 13234303 + Missense_Mutation SNP T T C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr10:13234303T>C ENST00000378694.1 + 11 1640 c.1565T>C c.(1564-1566)aTg>aCg p.M522T MCM10_ENST00000378714.3_Missense_Mutation_p.M522T|MCM10_ENST00000484800.2_Missense_Mutation_p.M523T Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 523 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 AAGGAACTGATGGACCTGCCG 0.512000 15 50 0 0 1 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146030116 146030116 + Missense_Mutation SNP T T C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr5:146030116T>C ENST00000394413.3 - 5 1189 c.619A>G c.(619-621)Agt>Ggt p.S207G PPP2R2B_ENST00000453001.1_Missense_Mutation_p.S207G|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.S207G|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.S207G|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.S265G|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.S196G|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.S210G|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.S213G|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.S196G|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.S273G Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 207 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATACTAAAACTTTGATTGGTT 0.388000 4 65 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51515774 51515774 + Missense_Mutation SNP C C A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr11:51515774C>A ENST00000328188.1 + 1 493 c.493C>A c.(493-495)Cct>Act p.P165T NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 CTTCCAATTACCTTTCTGTGG 0.468000 52 48 1.81118e-26 2.04803e-26 1 1 0 HSPG2 3339 broad.mit.edu 37 1 22154579 22154579 + Missense_Mutation SNP C C A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr1:22154579C>A ENST00000374695.3 - 90 12555 c.12476G>T c.(12475-12477)tGc>tTc p.C4159F HSPG2_ENST00000486901.1_5'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 4159 EGF-like 4. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGTGCCCTGGCAGGTGCCCCC 0.662000 16 13 8.60227e-14 9.5798e-14 1 1 0 SLC16A6 9120 broad.mit.edu 37 17 66267428 66267428 + Silent SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr17:66267428C>T ENST00000327268.4 - 6 1037 c.873G>A c.(871-873)gaG>gaA p.E291E ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.E291E NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 291 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) TAAAACTTTTCTCTTTCAAAA 0.468000 4 63 0 0 1 0 0 CDH19 28513 broad.mit.edu 37 18 64235836 64235836 + Missense_Mutation SNP G G T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr18:64235836G>T ENST00000262150.2 - 3 599 c.307C>A c.(307-309)Cag>Aag p.Q103K CDH19_ENST00000540086.1_Missense_Mutation_p.Q103K NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 103 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) TCAAGCTTCTGTATGGCATAT 0.428000 22 104 2.89027e-11 3.17067e-11 1 1 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 3 61 0 0 1 0 0 IDO2 169355 broad.mit.edu 37 8 39847246 39847246 + Missense_Mutation SNP G G C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr8:39847246G>C ENST00000502986.2 + 8 837 c.595G>C c.(595-597)Gtt>Ctt p.V199L IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Missense_Mutation_p.V186L|RP11-44K6.3_ENST00000517623.1_RNA NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 186 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 CTAGGCTCTTGTTCAGGCCAC 0.522000 7 2 0 0 1 0 0 TPCN2 219931 broad.mit.edu 37 11 68825108 68825108 + Silent SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr11:68825108G>A ENST00000294309.3 + 5 593 c.492G>A c.(490-492)gtG>gtA p.V164V TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.V164V NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 164 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) ACCTCGTGGTGCTGGTGGTGT 0.597000 8 75 0 0 1 0 0 DDX41 51428 broad.mit.edu 37 5 176940755 176940755 + Silent SNP C C T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr5:176940755C>T ENST00000507955.1 - 10 1552 c.1029G>A c.(1027-1029)ctG>ctA p.L343L NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 343 Helicase ATP-binding. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) CAGCCTCGTCCAGGGCCAGGT 0.627000 4 67 0 0 1 0 0 TRIM6 117854 broad.mit.edu 37 11 5632107 5632107 + Silent SNP C C G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr11:5632107C>G ENST00000380097.3 + 8 1328 c.1086C>G c.(1084-1086)tcC>tcG p.S362S TRIM6_ENST00000507320.1_Silent_p.S159S|TRIM6_ENST00000515022.1_Silent_p.S159S|TRIM6_ENST00000380107.1_Silent_p.S308S|TRIM6_ENST00000278302.5_Silent_p.S334S|TRIM6_ENST00000481603.1_3'UTR|HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000506134.1_Silent_p.S159S|TRIM6_ENST00000445329.1_Silent_p.S159S NM_001003818.2|NM_001198644.1|NM_001198645.1 NP_001003818.1|NP_001185573.1|NP_001185574.1 tripartite motif containing 6 breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1) 22 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) CTGGACCTTCCTGTCTGGAAA 0.483000 8 30 0 0 1 0 0 PTPN11 5781 broad.mit.edu 37 12 112926291 112926291 + Missense_Mutation SNP T T G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr12:112926291T>G ENST00000351677.2 + 12 1622 c.1424T>G c.(1423-1425)cTt>cGt p.L475R NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 479 Tyrosine-protein phosphatase. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 ATTGATATTCTTATTGACATC 0.458000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 8 89 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168845848 168845848 + Splice_Site SNP T T C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr3:168845848T>C ENST00000464456.1 - 4 1250 c.49_splice c.e4-1 p.E17_splice MECOM_ENST00000472280.1_Splice_Site_p.E17_splice|MECOM_ENST00000468789.1_Splice_Site_p.E17_splice|MECOM_ENST00000264674.3_Splice_Site_p.E81_splice|MECOM_ENST00000392736.3_Splice_Site_p.E17_splice|MECOM_ENST00000433243.2_Splice_Site_p.E17_splice|MECOM_ENST00000460814.1_Splice_Site_p.E17_splice|MECOM_ENST00000494292.1_Splice_Site_p.E205_splice NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TTGCCGTTCTTCTGTGAAAAC 0.418000 6 102 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 7 367 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30672243 30672243 + Missense_Mutation SNP G G C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr6:30672243G>C ENST00000376406.3 - 10 5364 c.4717C>G c.(4717-4719)Cct>Gct p.P1573A MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P1309A NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1573 Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 GGGGCTATAGGGACAATTGAT 0.567000 Other conserved DNA damage response genes 15 249 0 0 1 0 0 DYRK4 8798 broad.mit.edu 37 12 4722916 4722916 + Silent SNP A A G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr12:4722916A>G ENST00000540757.2 + 13 1720 c.1560A>G c.(1558-1560)gtA>gtG p.V520V DYRK4_ENST00000543431.1_Silent_p.V519V|DYRK4_ENST00000545342.1_Silent_p.V157V|DYRK4_ENST00000010132.5_Silent_p.V520V NM_003845.1 NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 520 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) CCCCTATTGTATGACCTTTGC 0.443000 43 41 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85645702 85645702 + Missense_Mutation SNP A A G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr4:85645702A>G ENST00000322366.6 - 45 7674 c.7267T>C c.(7267-7269)Tac>Cac p.Y2423H WDFY3_ENST00000295888.4_Missense_Mutation_p.Y2440H Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2440 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CGCATGTAGTACTCTTTACTG 0.448000 4 104 0 0 1 0 0 C4orf40 401137 broad.mit.edu 37 4 71020123 71020123 + Missense_Mutation SNP T T C TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr4:71020123T>C ENST00000344526.5 + 1 220 c.31T>C c.(31-33)Tgt>Cgt p.C11R C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.C11R NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 11 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CTGCATTGTATGTGTTGCTTT 0.294000 30 41 0 0 1 0 0 FAM124A 220108 broad.mit.edu 37 13 51825705 51825705 + Missense_Mutation SNP G G A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr13:51825705G>A ENST00000322475.8 + 3 337 c.202G>A c.(202-204)Gtc>Atc p.V68I FAM124A_ENST00000280057.6_Missense_Mutation_p.V104I NM_001242312.1 NP_001229241.1 Q86V42 F124A_HUMAN family with sequence similarity 124A 68 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1) 26 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) CATCGACAACGTCCTGGCGTG 0.682000 19 17 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579224 55579224 + Missense_Mutation SNP C C A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr11:55579224C>A ENST00000333973.2 + 1 371 c.282C>A c.(280-282)ttC>ttA p.F94L NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CCATCTCCTTCCTAGGGTGCA 0.458000 13 231 4.3838e-07 4.73837e-07 1 1 0 PENK 5179 broad.mit.edu 37 8 57353928 57353928 + Missense_Mutation SNP C C T rs148671012 TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr8:57353928C>T ENST00000314922.3 - 2 783 c.707G>A c.(706-708)cGc>cAc p.R236H PENK_ENST00000451791.2_Missense_Mutation_p.R236H NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 236 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CTCGGCAAAGCGCTTCAGGAA 0.483000 65 21 0 0 1 0 0 CST9 128822 broad.mit.edu 37 20 23584363 23584363 + Silent SNP A A T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr20:23584363A>T ENST00000376971.3 - 2 275 c.264T>A c.(262-264)ggT>ggA p.G88G NM_001008693.2 NP_001008693.2 Q5W186 CST9_HUMAN cystatin 9 (testatin) 88 extracellular region cysteine-type endopeptidase inhibitor activity central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Colorectal(13;0.0993) ACACCATCTTACCTCGCCACT 0.468000 5 122 0 0 1 0 0 SLC14A1 6563 broad.mit.edu 37 18 43311050 43311050 + Missense_Mutation SNP C C A TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr18:43311050C>A ENST00000321925.4 + 4 454 c.222C>A c.(220-222)aaC>aaA p.N74K SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.N130K|SLC14A1_ENST00000586142.1_Missense_Mutation_p.N74K|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000436407.3_Missense_Mutation_p.N130K|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000589700.1_Missense_Mutation_p.N74K|SLC14A1_ENST00000402943.2_5'UTR NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 74 N -> K (in Jk(null)). integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 TCGTCAACAACCCCGTCAGTG 0.547000 7 86 0.000157383 0.000166441 1 1 0 HRNR 388697 broad.mit.edu 37 1 152191275 152191275 + Frame_Shift_Del DEL A A - TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr1:152191275delA ENST00000368801.2 - 3 2905 c.2830delT c.(2830-2832)acfs p.Y944fs FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 944 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) TGCTGAGTGTAACCAGAGGAC 0.567 22 634 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152276084 152276091 + Frame_Shift_Del DEL CACGAATG CACGAATG - TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr1:152276084_152276091delCACGAATG ENST00000368799.1 - 3 11306_11313 c.11271_11278delCATTCGTG c.(11269-11280)acgafs p.TIRG3757fs FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3757 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCGGGTGTCCACGAATGGTGTCCTGAC 0.606 Ichthyosis 22 802 --- --- --- --- AC022007.5 0 broad.mit.edu 37 3 10049093 10049094 + RNA INS - - G TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr3:10049093_10049094insG ENST00000383808.2 - 0 904_905 GGGTCAGTGGCGGGGTGTGGTC 0.589 7 136 --- --- --- --- H1FOO 132243 broad.mit.edu 37 3 129268107 129268108 + Frame_Shift_Ins INS - - A rs150160917 by1000genomes TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr3:129268107_129268108insA ENST00000324382.2 + 3 647_648 c.642_643insA c.(640-645)gcggaafs p.E215fs H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.E76fs NM_153833.1 NP_722575.1 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 215 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 CGGGAGAGGCTAGGAAGGTGCC 0.653 2 4 --- --- --- --- CCDC96 257236 broad.mit.edu 37 4 7044507 7044509 + In_Frame_Del DEL CTC CTC - TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr4:7044507_7044509delCTC ENST00000310085.4 - 1 219_221 c.157_159delGAG c.(157-159)del p.E53del RP11-367J11.2_ENST00000500031.1_RNA NM_153376.2 NP_699207.1 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 53 Glu-rich. endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 AAGCCGCTTGCTCCTCCTCCTCC 0.729 2 4 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32523362 32523363 + RNA INS - - GATA rs142676080 by1000genomes TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr6:32523362_32523363insGATA ENST00000411500.1 - 0 458 NR_001298.1 AAAGCAATGTGGATAAAGGGAC 0.431 3 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369720 100369721 + RNA INS - - T TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr7:100369720_100369721insT ENST00000542585.1 + 0 5573 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) cctctaaattcttttttttttt 0.535 3 4 --- --- --- --- NR4A1 0 broad.mit.edu 37 12 52451162 52451164 + In_Frame_Del DEL TCT TCT - TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr12:52451162_52451164delTCT ENST00000545748.1 + 7 2545_2547 c.1550_1552delTCT c.(1549-1554)atc>a p.IF517del NR4A1_ENST00000550082.1_In_Frame_Del_p.IF476del|NR4A1_ENST00000394825.1_In_Frame_Del_p.IF463del|NR4A1_ENST00000394824.2_In_Frame_Del_p.IF463del|NR4A1_ENST00000243050.1_In_Frame_Del_p.IF463del|NR4A1_ENST00000360284.3_In_Frame_Del_p.IF476del P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 463 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) GGCAAGCTCATCTTCTGCTCAGG 0.611 32 29 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579311 7579311 + Splice_Site DEL C C - rs68140816 TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr17:7579311delC ENST00000420246.2 - 4 508 c.e4+1 TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGGCAACTGACCGTGCAAGTC 0.532 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 26 52 --- --- --- --- AC005562.1 0 broad.mit.edu 37 17 28960992 28960993 + RNA INS - - TTTTTC rs10561703 TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chr17:28960992_28960993insTTTTTC ENST00000417404.1 + 0 1269 LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA ttcttttttctttttttttttt 0.302 12 21 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76889091 76889091 + Frame_Shift_Del DEL T T - TCGA-DU-7304-02A-12D-A36O-08 TCGA-DU-7304-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02318fd9-cf91-48e2-9402-e2c00bfa919d b95bb15a-325a-459a-aadc-d4f68cee6a65 g.chrX:76889091delT ENST00000373344.5 - 18 5133 c.4919delA c.(4918-4920)agfs p.K1640fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1602fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1640 Helicase ATP-binding. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CTCTTGCCACTTCTCAAATTC 0.318 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 53 5 --- --- --- ---