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 TMPPE 643853 broad.mit.edu 37 3 33134911 33134911 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:33134911G>A ENST00000342462.4 - 2 967 c.777C>T c.(775-777)gtC>gtT p.V259V GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Silent_p.V122V NM_001039770.2 NP_001034859.2 Q6ZT21 TMPPE_HUMAN transmembrane protein with metallophosphoesterase domain 259 integral to membrane metal ion binding breast(1)|large_intestine(5)|lung(6)|prostate(1) 13 CCAGAGGAGCGACAGCCGTCC 0.537000 24 86 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31604940 31604940 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:31604940G>A ENST00000389082.5 - 5 1827 c.1563C>T c.(1561-1563)gtC>gtT p.V521V DENND5B_ENST00000306833.6_Silent_p.V556V|DENND5B_ENST00000354285.4_Silent_p.V543V|DENND5B_ENST00000536562.1_Silent_p.V556V NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 521 dDENN. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CAGTCTGAATGACAAATGCTT 0.443000 11 103 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22271790 22271790 + Nonsense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:22271790C>G ENST00000594947.1 + 4 1382 c.1238C>G c.(1237-1239)tCa>tGa p.S413* NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) AACTGGTCCTCAGCTCTTACT 0.398000 10 33 0 0 1 0 0 HIST1H4D 8360 broad.mit.edu 37 6 26188994 26188994 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:26188994C>T ENST00000340756.2 - 1 310 c.311G>A c.(310-312)tGa>tAa p.*104* NM_003539.3 NP_003530.1 P62805 H4_HUMAN histone cluster 1, H4d 0 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1) 8 all_hematologic(11;0.196) GAGGTAAGCTCAGCCGCCGAA 0.537000 8 61 0 0 1 0 0 FXR1 8087 broad.mit.edu 37 3 180675620 180675620 + Silent SNP A A G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:180675620A>G ENST00000357559.4 + 10 1278 c.894A>G c.(892-894)ggA>ggG p.G298G FXR1_ENST00000445140.2_Silent_p.G298G|FXR1_ENST00000305586.7_Silent_p.G213G|FXR1_ENST00000468861.1_Silent_p.G213G|FXR1_ENST00000491062.1_Silent_p.G249G|FXR1_ENST00000480918.1_Silent_p.G285G NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 298 KH 2. apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) AAGTAATTGGAAAAAATGGCA 0.343000 10 76 0 0 1 0 0 TNFAIP1 7126 broad.mit.edu 37 17 26669328 26669328 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:26669328C>T ENST00000226225.2 + 6 841 c.574C>T c.(574-576)Cgc>Tgc p.R192C TNFAIP1_ENST00000583213.1_3'UTR|TNFAIP1_ENST00000544907.2_Missense_Mutation_p.R88C NM_021137.4 NP_066960.1 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 (endothelial) 192 apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 12 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) GCTCTCCCTGCGCTTCAACGG 0.547000 9 41 0 0 1 0 0 POP1 10940 broad.mit.edu 37 8 99148933 99148933 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr8:99148933C>G ENST00000401707.2 + 8 1316 c.1235C>G c.(1234-1236)tCt>tGt p.S412C POP1_ENST00000349693.3_Missense_Mutation_p.S412C NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 412 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CTACCATACTCTTGGATCTCT 0.358000 8 67 0 0 1 0 0 CELF1 10658 broad.mit.edu 37 11 47493803 47493803 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:47493803C>T ENST00000395290.2 - 12 1446 c.1437G>A c.(1435-1437)aaG>aaA p.K479K CELF1_ENST00000358597.3_Silent_p.K480K|CELF1_ENST00000531165.1_Silent_p.K508K|CELF1_ENST00000532048.1_Silent_p.K506K|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000310513.5_Silent_p.K476K|CELF1_ENST00000361904.3_Silent_p.K477K|CELF1_ENST00000395292.2_Silent_p.K477K NM_001025596.2|NM_001172640.1 NP_001020767.1|NP_001166111.1 Q92879 CELF1_HUMAN CUGBP, Elav-like family member 1 480 RRM 3. embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 TGCTGTCATTCTTCGAACGTT 0.527000 18 270 0 0 1 0 0 CCDC142 84865 broad.mit.edu 37 2 74702235 74702235 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr2:74702235C>T ENST00000393965.3 - 8 2200 c.1804G>A c.(1804-1806)Gga>Aga p.G602R CCDC142_ENST00000290418.4_Missense_Mutation_p.G595R NM_032779.3 NP_116168.3 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 602 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 16 TGCAGCGCTCCCTGCAGGCTG 0.582000 6 136 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156145022 156145022 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:156145022C>G ENST00000368285.3 + 13 1847 c.1580C>G c.(1579-1581)tCt>tGt p.S527C SEMA4A_ENST00000368286.2_Missense_Mutation_p.S395C|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.S527C|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S395C|SEMA4A_ENST00000355014.2_Missense_Mutation_p.S527C NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 527 PSI. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) TGCCTCCTGTCTGCCCCCAAC 0.617000 68 192 0 0 1 0 0 MORN4 118812 broad.mit.edu 37 10 99379418 99379418 + Translation_Start_Site SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr10:99379418G>C ENST00000307450.6 - 0 156 PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000370635.3_De_novo_Start_OutOfFrame|MORN4_ENST00000335628.3_Intron|MORN4_ENST00000478953.1_De_novo_Start_OutOfFrame|PI4K2A_ENST00000370649.3_Intron NM_001098831.1|NM_178832.3 NP_001092301.1|NP_849154.1 Q8NDC4 MORN4_HUMAN MORN repeat containing 4 large_intestine(1)|lung(1)|stomach(2) 4 CATGGTGACAGATTACAGGAT 0.483000 4 62 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117128203 117128203 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:117128203C>T ENST00000310357.3 - 3 686 c.665G>A c.(664-666)cGa>cAa p.R222Q GPRC6A_ENST00000368549.3_Missense_Mutation_p.R222Q|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R222Q NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 222 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AAGAGCCAATCGTCCATAGTC 0.408000 13 194 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73235278 73235278 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr9:73235278C>T ENST00000377110.3 - 15 2050 c.1807G>A c.(1807-1809)Gat>Aat p.D603N TRPM3_ENST00000408909.2_Missense_Mutation_p.D462N|TRPM3_ENST00000377111.2_Missense_Mutation_p.D603N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D607N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D475N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D450N|TRPM3_ENST00000396280.5_Missense_Mutation_p.D452N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D465N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D630N|TRPM3_ENST00000377105.1_Missense_Mutation_p.D462N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D465N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D475N Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity p.D607N(1)|p.D603N(1)|p.D475N(1) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 AAGGGAATATCATCCTGTAAT 0.438000 20 209 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175899002 175899002 + Nonsense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr4:175899002C>T ENST00000359240.3 + 5 2996 c.2326C>T c.(2326-2328)Cag>Tag p.Q776* ADAM29_ENST00000514159.1_Nonsense_Mutation_p.Q776*|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.Q776*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.Q776* NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 776 9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GATGCCTTCTCAGAGTCAACC 0.567000 14 115 0 0 1 0 0 H2AFY2 55506 broad.mit.edu 37 10 71871382 71871382 + Silent SNP C C T rs145574275 byFrequency TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr10:71871382C>T ENST00000373255.4 + 9 1326 c.1062C>T c.(1060-1062)ttC>ttT p.F354F AIFM2_ENST00000373248.1_Intron NM_018649.2 NP_061119.1 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 354 Macro. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 TCCTGCTCTTCGACAGCGAGA 0.602000 11 46 0 0 1 0 0 EDN2 1907 broad.mit.edu 37 1 41945174 41945174 + Splice_Site SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:41945174C>T ENST00000372587.4 - 5 513 c.e5-1 EDN2_ENST00000490783.1_Splice_Site NM_001956.3 NP_001947.1 P20800 EDN2_HUMAN endothelin 2 artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space endothelin B receptor binding|hormone activity endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 8 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGAAATGTCCCTGGGAATCAA 0.552000 5 53 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435847 158435847 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:158435847C>G ENST00000289451.2 + 1 576 c.496C>G c.(496-498)Ctg>Gtg p.L166V NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) AGTATTTCATCTGCCCTTCCA 0.547000 64 180 0 0 1 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917592 48917592 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:48917592G>A ENST00000311378.4 + 2 1471 c.943G>A c.(943-945)Gag>Aag p.E315K RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E222K NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 315 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) AGCCACCTCAGAGAGCAGCCC 0.657000 9 71 0 0 1 0 0 NLRX1 79671 broad.mit.edu 37 11 119045225 119045225 + Missense_Mutation SNP C C T rs149154497 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:119045225C>T ENST00000409109.1 + 6 1500 c.913C>T c.(913-915)Cgc>Tgc p.R305C NLRX1_ENST00000409991.1_Missense_Mutation_p.R305C|NLRX1_ENST00000409265.4_Missense_Mutation_p.R305C|NLRX1_ENST00000525863.1_Missense_Mutation_p.R305C|NLRX1_ENST00000292199.2_Missense_Mutation_p.R305C NM_001282144.1 NP_001269073.1 Q86UT6 NLRX1_HUMAN NLR family member X1 305 NACHT.|Required for interaction with MAVS. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GTACGTGGGCCGCTATGGTGA 0.567000 12 194 0 0 1 0 0 OR9G1 390174 broad.mit.edu 37 11 56468553 56468553 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:56468553C>T ENST00000312153.1 + 1 690 c.690C>T c.(688-690)tcC>tcT p.S230S NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 TCTCCTCCTCCAAGGGCTACC 0.522000 12 245 0 0 1 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183629 11183629 + Silent SNP G G T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:11183629G>T ENST00000390675.2 - 1 377 c.306C>A c.(304-306)ctC>ctA p.L102L PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 102 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 AAAATATGCTGAGGCTAGTAG 0.403000 10 202 0.000442599 0.000450796 1 1 0 PTPN13 5783 broad.mit.edu 37 4 87671842 87671842 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr4:87671842C>G ENST00000436978.1 + 18 3350 c.2870C>G c.(2869-2871)gCt>gGt p.A957G PTPN13_ENST00000427191.2_Missense_Mutation_p.A957G|PTPN13_ENST00000511467.1_Missense_Mutation_p.A957G|PTPN13_ENST00000411767.2_Missense_Mutation_p.A957G|PTPN13_ENST00000316707.6_Intron NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 957 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AATGACAAAGCTTCATGGGAG 0.423000 11 32 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50475268 50475268 + RNA SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:50475268C>T ENST00000602139.1 + 0 1214 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 GGAGCTGCCTCGGGTTCAAAT 0.677000 12 53 0 0 1 0 0 AQP1 358 broad.mit.edu 37 7 30962182 30962182 + Missense_Mutation SNP G G T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:30962182G>T ENST00000311813.4 + 3 608 c.553G>T c.(553-555)Gac>Tac p.D185Y AQP1_ENST00000434909.2_Missense_Mutation_p.D245Y|AQP1_ENST00000509504.1_Missense_Mutation_p.D362Y|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000409899.1_Missense_Mutation_p.D70Y|AQP1_ENST00000441328.2_Missense_Mutation_p.D102Y|AQP1_ENST00000409611.1_Missense_Mutation_p.D134Y NM_198098.2 NP_932766.1 aquaporin 1 kidney(1)|large_intestine(2)|lung(9) 12 Melanoma(862;0.16) ctcACAGATTGACTACACTGG 0.557000 19 307 5.26018e-13 5.51066e-13 1 1 0 COL11A1 1301 broad.mit.edu 37 1 103404632 103404632 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:103404632C>T ENST00000358392.2 - 44 3750 c.3433G>A c.(3433-3435)Gag>Aag p.E1145K COL11A1_ENST00000370096.3_Missense_Mutation_p.E1133K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1094K|COL11A1_ENST00000512756.1_Missense_Mutation_p.E1017K NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1133 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGTCCCGGCTCACCAATTTCA 0.333000 32 81 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76171016 76171016 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:76171016C>T ENST00000529032.1 + 5 458 c.458C>T c.(457-459)cCa>cTa p.P153L C11orf30_ENST00000343878.3_Missense_Mutation_p.P153L|C11orf30_ENST00000525919.1_Missense_Mutation_p.P154L|C11orf30_ENST00000334736.3_Missense_Mutation_p.P153L|C11orf30_ENST00000525038.1_Missense_Mutation_p.P168L|C11orf30_ENST00000524767.1_Missense_Mutation_p.P168L|C11orf30_ENST00000524490.1_Missense_Mutation_p.P154L|C11orf30_ENST00000533248.1_Missense_Mutation_p.P167L Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 153 Interaction with BRCA2. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 ACGTCAACCCCAACCTCTACC 0.458000 33 179 0 0 1 0 0 ST3GAL1 6482 broad.mit.edu 37 8 134477108 134477108 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr8:134477108C>T ENST00000319914.5 - 6 1623 c.596G>A c.(595-597)gGa>gAa p.G199E ST3GAL1_ENST00000522652.1_Missense_Mutation_p.G199E|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.G199E|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.G199E Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 199 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) GACATTATCTCCCAGCTCCCG 0.582000 14 145 0 0 1 0 0 HRH1 3269 broad.mit.edu 37 3 11301252 11301252 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:11301252G>A ENST00000397056.1 + 3 720 c.529G>A c.(529-531)Gag>Aag p.E177K HRH1_ENST00000431010.2_Missense_Mutation_p.E177K|HRH1_ENST00000438284.2_Missense_Mutation_p.E177K NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 177 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) GGTGCGCCGAGAGGACAAGTG 0.522000 9 172 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179290667 179290667 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr5:179290667G>A ENST00000356834.3 - 22 3571 c.3534C>T c.(3532-3534)ggC>ggT p.G1178G TBC1D9B_ENST00000444477.2_Silent_p.G319G|TBC1D9B_ENST00000355235.3_Silent_p.G1161G|TBC1D9B_ENST00000519746.1_Silent_p.G337G|TBC1D9B_ENST00000518085.1_5'UTR NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 1178 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGCCTCCCCGCCCACCAGCA 0.627000 12 54 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21852042 21852042 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr14:21852042C>T ENST00000216297.2 - 1 383 c.45G>A c.(43-45)aaG>aaA p.K15K SUPT16H_ENST00000555943.1_Silent_p.K15K NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 15 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TGTACAGTCTCTTCACTCGCC 0.547000 8 74 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 13273104 13273104 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:13273104G>C ENST00000379350.1 + 10 1533 c.1404G>C c.(1402-1404)caG>caC p.Q468H PHACTR1_ENST00000379329.1_Missense_Mutation_p.Q32H|PHACTR1_ENST00000379335.3_Missense_Mutation_p.Q32H|PHACTR1_ENST00000332995.7_Missense_Mutation_p.Q468H|PHACTR1_ENST00000457702.2_Missense_Mutation_p.Q323H|RP1-257A7.4_ENST00000606627.1_RNA Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 468 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GGCTGAGCCAGAGGCCAACTG 0.458000 21 289 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9256687 9256687 + Nonsense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr18:9256687C>G ENST00000262126.4 + 9 3662 c.3422C>G c.(3421-3423)tCa>tGa p.S1141* ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.S1118*|ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.S1118* NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 CTTACTAGGTCAAAGAGTTCA 0.333000 8 92 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 6 87 0 0 1 0 0 CMPK1 51727 broad.mit.edu 37 1 47840885 47840885 + Nonsense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:47840885C>T ENST00000371873.5 + 5 714 c.565C>T c.(565-567)Cag>Tag p.Q189* CMPK1_ENST00000450808.2_Nonsense_Mutation_p.Q140* NM_001136140.1|NM_016308.2 NP_001129612.1|NP_057392.1 P30085 KCY_HUMAN cytidine monophosphate (UMP-CMP) kinase 1, cytosolic 157 nucleobase, nucleoside and nucleotide interconversion cytosol|nucleus ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2) 8 Gemcitabine(DB00441) GACCTACCTTCAGTCAACAAA 0.368000 10 164 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130293317 130293317 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:130293317G>A ENST00000358511.6 + 7 3526 c.3495G>A c.(3493-3495)aaG>aaA p.K1165K COL6A6_ENST00000453409.2_Silent_p.K1165K NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1165 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 ATGAACTGAAGAAGGTCAATA 0.463000 17 61 0 0 1 0 0 SLC25A31 83447 broad.mit.edu 37 4 128651894 128651894 + Missense_Mutation SNP G G T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr4:128651894G>T ENST00000281154.4 + 1 362 c.194G>T c.(193-195)gGc>gTc p.G65V NM_031291.2 NP_112581.1 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 65 transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2) 22 CGGTACAAAGGCATGGTGGAC 0.677000 5 33 0.000602214 0.000607739 1 1 0 KCTD7 154881 broad.mit.edu 37 7 66240337 66240337 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:66240337G>A ENST00000380828.2 + 5 577 c.423G>A c.(421-423)gtG>gtA p.V141V RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Silent_p.V115V|KCTD7_ENST00000510829.2_Silent_p.V101V|RABGEF1_ENST00000450873.2_Silent_p.V101V|KCTD7_ENST00000451741.2_Silent_p.V101V|RABGEF1_ENST00000284957.5_Silent_p.V101V|RABGEF1_ENST00000439720.2_Silent_p.V114V Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 0 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 TTACCACAGTGAAGAAATTCT 0.468000 6 66 0 0 1 0 0 BTNL3 10917 broad.mit.edu 37 5 180419911 180419911 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr5:180419911G>A ENST00000342868.6 + 2 332 c.148G>A c.(148-150)Gct>Act p.A50T NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 50 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) CAGTGCAGAGGCTATGGAAGT 0.562000 3 32 0 0 1 0 0 UBAP2 55833 broad.mit.edu 37 9 33998823 33998823 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr9:33998823C>G ENST00000379238.1 - 3 256 c.139G>C c.(139-141)Gat>Cat p.D47H UBAP2_ENST00000449054.1_Missense_Mutation_p.D47H|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000418786.2_Missense_Mutation_p.D47H|UBAP2_ENST00000539807.1_Missense_Mutation_p.D9H|UBAP2_ENST00000360802.1_Missense_Mutation_p.D47H Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 47 p.D47N(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TCATTCTTATCAAAGATCACT 0.328000 16 93 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137655583 137655583 + Splice_Site SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr9:137655583C>T ENST00000371817.3 + 20 2448 c.2034C>T c.(2032-2034)ccC>ccT p.P678P NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 678 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CTGGGGAGCCCGTAAGTCTGT 0.587000 8 78 0 0 1 0 0 ZNF235 9310 broad.mit.edu 37 19 44792882 44792882 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:44792882G>C ENST00000291182.4 - 5 808 c.706C>G c.(706-708)Cat>Gat p.H236D ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) CTATTGCTATGAACTTTATCT 0.358000 7 96 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46657366 46657366 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:46657366G>C ENST00000544460.1 + 1 1755 c.1501G>C c.(1501-1503)Gag>Cag p.E501Q TDRD6_ENST00000316081.6_Missense_Mutation_p.E501Q NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 501 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding p.E501K(1) NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AAATCCTTCTGAGTTTTGGAT 0.413000 45 125 0 0 1 0 0 SPATS2 65244 broad.mit.edu 37 12 49883353 49883353 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:49883353G>A ENST00000553127.1 + 6 724 c.211G>A c.(211-213)Gaa>Aaa p.E71K SPATS2_ENST00000321898.6_Missense_Mutation_p.E71K|SPATS2_ENST00000552918.1_Missense_Mutation_p.E71K Q86XZ4 SPAS2_HUMAN spermatogenesis associated, serine-rich 2 71 cytoplasm breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4) 21 AGCATTCATGGAAGGTAATCC 0.328000 10 43 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154680984 154680984 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:154680984G>A ENST00000404039.1 + 24 2702 c.2115G>A c.(2113-2115)atG>atA p.M705I DPP6_ENST00000427557.1_Missense_Mutation_p.M662I|DPP6_ENST00000377770.3_Missense_Mutation_p.M769I|DPP6_ENST00000332007.3_Missense_Mutation_p.M707I NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 769 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) ATGTGCAGATGACCAAGGTAG 0.537000 4 24 0 0 1 0 0 RECQL 5965 broad.mit.edu 37 12 21624476 21624476 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:21624476G>A ENST00000444129.2 - 13 2021 c.1553C>T c.(1552-1554)tCt>tTt p.S518F RECQL_ENST00000421138.2_Missense_Mutation_p.S518F NM_002907.3|NM_032941.2 NP_002898.2|NP_116559.1 P46063 RECQ1_HUMAN RecQ protein-like (DNA helicase Q1-like) 518 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 TCCCATCCAAGAATCAATCAG 0.423000 Other identified genes with known or suspected DNA repair function 16 159 0 0 1 0 0 TCTN1 79600 broad.mit.edu 37 12 111072480 111072480 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:111072480C>T ENST00000551590.1 + 6 874 c.718C>T c.(718-720)Ctg>Ttg p.L240L TCTN1_ENST00000397659.4_Silent_p.L240L|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000551555.2_Intron|TCTN1_ENST00000377654.3_Silent_p.L62L Q2MV58 TECT1_HUMAN tectonic family member 1 240 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 TCTAGCGTTTCTGGTGAACCA 0.343000 4 20 0 0 1 0 0 CNOT4 4850 broad.mit.edu 37 7 135107051 135107051 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:135107051G>C ENST00000428680.2 - 3 505 c.226C>G c.(226-228)Caa>Gaa p.Q76E CNOT4_ENST00000361528.4_Missense_Mutation_p.Q76E|CNOT4_ENST00000451834.1_Missense_Mutation_p.Q76E|CNOT4_ENST00000315544.5_Missense_Mutation_p.Q76E|CNOT4_ENST00000423368.2_Missense_Mutation_p.Q76E|CNOT4_ENST00000414802.1_Missense_Mutation_p.Q76E|CNOT4_ENST00000356162.4_Missense_Mutation_p.Q76E|CNOT4_ENST00000541284.1_Missense_Mutation_p.Q76E NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 76 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 TTTATCCTTTGCAGCTCTTCC 0.333000 6 107 0 0 1 0 0 GSE1 23199 broad.mit.edu 37 16 85704674 85704674 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr16:85704674G>A ENST00000253458.7 + 15 3665 c.3489G>A c.(3487-3489)ctG>ctA p.L1163L GSE1_ENST00000393243.1_Silent_p.L1090L|GSE1_ENST00000405402.2_Silent_p.L1059L NM_014615.2 NP_055430.1 Gse1 coiled-coil protein GCCTCAGCCTGACGGCAGAGC 0.532000 4 58 0 0 1 0 0 NEURL4 84461 broad.mit.edu 37 17 7225069 7225069 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:7225069G>A ENST00000399464.2 - 18 2924 c.2909C>T c.(2908-2910)tCc>tTc p.S970F NEURL4_ENST00000570460.1_Missense_Mutation_p.S946F|NEURL4_ENST00000315614.7_Missense_Mutation_p.S968F NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CAGCCGCAGGGAACCTGCCCA 0.642000 9 48 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578272 7578272 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:7578272G>A ENST00000420246.2 - 6 709 c.577C>T c.(577-579)Cat>Tat p.H193Y TP53_ENST00000445888.2_Missense_Mutation_p.H193Y|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000269305.4_Missense_Mutation_p.H193Y|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation). 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.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(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) CGGATAAGATGCTGAGGAGGG 0.557000 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) 18 41 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108G>A c.(106-108)caG>caA p.Q36Q MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 4 45 0 0 1 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869055 22869055 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr22:22869055G>A ENST00000302097.3 - 2 1152 c.900C>T c.(898-900)tgC>tgT p.C300C NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) CGCAGCTGAGGCATTTAAAGG 0.413000 35 179 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25472060 25472060 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr20:25472060G>A ENST00000278886.6 - 11 1485 c.1412C>T c.(1411-1413)gCg>gTg p.A471V NINL_ENST00000422516.1_Missense_Mutation_p.A471V NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 471 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 CCACTCCAGCGCGGCCCTCTG 0.692000 10 76 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76547693 76547693 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:76547693C>G ENST00000389840.5 - 16 2439 c.2315G>C c.(2314-2316)cGa>cCa p.R772P DNAH17_ENST00000585328.1_Missense_Mutation_p.R772P dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CAGAATTTCTCGCACCTCTTG 0.433000 7 95 0 0 1 0 0 MIEF2 125170 broad.mit.edu 37 17 18167607 18167607 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:18167607G>A ENST00000323019.4 + 4 1105 c.894G>A c.(892-894)gaG>gaA p.E298E MIEF2_ENST00000395706.2_Silent_p.E309E|MIEF2_ENST00000395704.4_3'UTR NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 mitochondrial elongation factor 2 298 AACGCCTGGAGCTCACTGTGG 0.682000 7 92 0 0 1 0 0 SKOR1 390598 broad.mit.edu 37 15 68118511 68118511 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr15:68118511G>A ENST00000380035.2 + 2 403 c.345G>A c.(343-345)gaG>gaA p.E115E SKOR1_ENST00000554240.1_Silent_p.E76E|SKOR1_ENST00000389002.1_Silent_p.E106E|SKOR1_ENST00000341418.5_Silent_p.E301E|SKOR1_ENST00000554054.1_Silent_p.E87E P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 115 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 GCTATAATGAGATCCACAACC 0.632000 10 80 0 0 1 0 0 MAGIX 79917 broad.mit.edu 37 X 49022469 49022469 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chrX:49022469C>G ENST00000376338.3 + 4 638 c.559C>G c.(559-561)Cgc>Ggc p.R187G MAGIX_ENST00000425661.2_Missense_Mutation_p.R170G|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.R182G|MAGIX_ENST00000412696.2_Missense_Mutation_p.R246G Q9H6Y5 MAGIX_HUMAN MAGI family member, X-linked 246 PDZ. AACGGGGTCTCGCAGCAGCAG 0.637000 5 34 0 0 1 0 0 MS4A2 2206 broad.mit.edu 37 11 59860925 59860925 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:59860925G>A ENST00000278888.3 + 5 533 c.431G>A c.(430-432)gGa>gAa p.G144E NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 144 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) GGGGGAACGGGAATTACCATC 0.488000 5 101 0 0 1 0 0 KRT79 338785 broad.mit.edu 37 12 53225239 53225239 + Missense_Mutation SNP C C A rs140032117 byFrequency TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:53225239C>A ENST00000330553.5 - 2 683 c.649G>T c.(649-651)Gac>Tac p.D217Y NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 217 Coil 1B.|Rod. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGCTCTGAGTCCAGCCTCCCC 0.622000 31 115 2.09667e-21 2.22834e-21 1 1 0 CR1 1378 broad.mit.edu 37 1 207791495 207791495 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:207791495C>T ENST00000367049.4 + 42 6969 c.6969C>T c.(6967-6969)atC>atT p.I2323I CR1_ENST00000400960.2_Silent_p.I1873I|CR1_ENST00000367053.1_Silent_p.I1873I|CR1_ENST00000367051.1_Silent_p.I1873I|CR1_ENST00000367052.1_Silent_p.I1873I NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1873 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GGATGACAATCAGCTACATTT 0.473000 8 159 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308000 9 31 0 0 1 0 0 TTC16 158248 broad.mit.edu 37 9 130479144 130479144 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr9:130479144G>A ENST00000373289.3 + 2 120 c.40G>A c.(40-42)Ggc>Agc p.G14S TTC16_ENST00000393748.4_Intron|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_5'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 14 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 GGTTGACCAGGGCCCCTCACG 0.602000 7 43 0 0 1 0 0 NAGPA 51172 broad.mit.edu 37 16 5077281 5077281 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr16:5077281C>G ENST00000312251.3 - 8 1293 c.1274G>C c.(1273-1275)aGa>aCa p.R425T NAGPA_ENST00000381955.3_Intron|RP11-165E7.1_ENST00000588778.1_RNA NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 425 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity p.R425T(1) endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) ATAGGTACCTCTGGAGACGCT 0.607000 4 63 0 0 1 0 0 DDX39B 7919 broad.mit.edu 37 6 31506817 31506817 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:31506817G>A ENST00000449074.2 - 4 544 c.359C>T c.(358-360)tCt>tTt p.S120F DDX39B_ENST00000376177.2_Intron|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B_ENST00000458640.1_Intron|DDX39B_ENST00000453105.2_Intron|DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000417556.2_Intron|DDX39B_ENST00000396172.1_Intron Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 0 Helicase ATP-binding. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 AAGGGTAACAGAGGTCATGTG 0.483000 15 118 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50682550 50682550 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr22:50682550G>A ENST00000439308.2 - 1 831 c.339C>T c.(337-339)ctC>ctT p.L113L TUBGCP6_ENST00000248846.5_Silent_p.L113L NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 113 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GCTGAACCAGGAGGTCCAAAA 0.587000 5 93 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195701330 195701330 + RNA SNP C C A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:195701330C>A ENST00000427841.1 - 0 1494 NR_003264.2 GGTCCAATAGCGAGTTTGCCC 0.597000 7 44 0.0381472 0.0383214 1 1 0 MRGPRX2 117194 broad.mit.edu 37 11 19077062 19077062 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:19077062G>A ENST00000329773.2 - 2 975 c.888C>T c.(886-888)ctC>ctT p.L296L NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 296 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 GAGCCAGCTTGAGGATCGGCT 0.552000 5 69 0 0 1 0 0 HMX2 3167 broad.mit.edu 37 10 124909479 124909479 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr10:124909479C>T ENST00000339992.3 + 2 919 c.662C>T c.(661-663)tCg>tTg p.S221L NM_005519.1 NP_005510.1 A2RU54 HMX2_HUMAN H6 family homeobox 2 221 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|lung(4)|prostate(1) 7 all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222) Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141) GCGCACGCGTCGGCGCAGACT 0.667000 3 27 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27016513 27016513 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:27016513C>T ENST00000314616.6 + 25 3559 c.3276C>T c.(3274-3276)atC>atT p.I1092I SUPT6H_ENST00000347486.4_Silent_p.I1092I NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1092 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity p.I1092I(1) NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TTGAAGAAATCTTGGAAAACC 0.542000 5 72 0 0 1 0 0 CHIAP2 149620 broad.mit.edu 37 1 111825226 111825226 + RNA SNP C C T rs6687390 by1000genomes TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:111825226C>T ENST00000369743.4 + 0 1015 NR_003928.1 CTGAGAACCACCAGACTTTCA 0.527000 6 137 0 0 1 0 0 TANGO6 79613 broad.mit.edu 37 16 68901008 68901008 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr16:68901008G>A ENST00000261778.1 + 4 891 c.879G>A c.(877-879)atG>atA p.M293I NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) AGACACAGATGAGGTGTCGGG 0.502000 11 109 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32506039 32506039 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr22:32506039C>T ENST00000266088.4 + 15 2084 c.1834C>T c.(1834-1836)Cta>Tta p.L612L SLC5A1_ENST00000543737.1_Silent_p.L485L NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 612 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 ATTTTGTGGGCTAGAGCAGCA 0.468000 15 74 0 0 1 0 0 CCDC173 129881 broad.mit.edu 37 2 170502423 170502423 + Silent SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr2:170502423G>C ENST00000447353.1 - 9 1692 c.1587C>G c.(1585-1587)ctC>ctG p.L529L NM_001085447.1 NP_001078916.1 coiled-coil domain containing 173 TATAAAAAGGGAGCTGGACTC 0.408000 25 71 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3954291 3954291 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:3954291G>A ENST00000381638.2 - 36 5771 c.5647C>T c.(5647-5649)Cgg>Tgg p.R1883W NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1883 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 TCACTGATCCGAATGGTTACC 0.532000 23 49 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62248557 62248557 + Silent SNP G G C rs112066687 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:62248557G>C ENST00000258991.3 - 7 2679 c.2595C>G c.(2593-2595)ctC>ctG p.L865L TEX2_ENST00000583097.1_Silent_p.L858L|TEX2_ENST00000584379.1_Silent_p.L858L Q8IWB9 TEX2_HUMAN testis expressed 2 858 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TAAAGTAGGGGAGCTAGAGGA 0.493000 5 38 0 0 1 0 0 RIN3 79890 broad.mit.edu 37 14 93125804 93125804 + Silent SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr14:93125804C>G ENST00000216487.7 + 7 2484 c.2325C>G c.(2323-2325)ctC>ctG p.L775L RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 775 VPS9. 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) CCATGGCCCTCGGCAACCCAG 0.582000 9 76 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3977490 3977490 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:3977490C>T ENST00000381638.2 - 24 3763 c.3639G>A c.(3637-3639)ctG>ctA p.L1213L NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1213 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GGCGTCCCATCAGCCGGGAGA 0.572000 13 197 0 0 1 0 0 TUBB6 84617 broad.mit.edu 37 18 12308761 12308761 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr18:12308761G>A ENST00000317702.5 + 2 367 c.133G>A c.(133-135)Gag>Aag p.E45K TUBB6_ENST00000592683.1_Missense_Mutation_p.E45K|TUBB6_ENST00000586653.1_Missense_Mutation_p.E45K|TUBB6_ENST00000590967.1_Missense_Mutation_p.E45K|TUBB6_ENST00000591208.1_Missense_Mutation_p.E45K|TUBB6_ENST00000591909.1_Missense_Mutation_p.E45K Q9BUF5 TBB6_HUMAN tubulin, beta 6 class V 45 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1) 14 READ - Rectum adenocarcinoma(1;0.0649) GCTGCAGCTGGAGAGAATCAA 0.662000 16 76 0 0 1 0 0 PBK 55872 broad.mit.edu 37 8 27667830 27667830 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr8:27667830C>T ENST00000301905.4 - 8 1424 c.961G>A c.(961-963)Gat>Aat p.D321N PBK_ENST00000522944.1_Missense_Mutation_p.D332N|ESCO2_ENST00000397418.2_Intron NM_018492.2 NP_060962.2 Q96KB5 TOPK_HUMAN PDZ binding kinase 321 PDZ-interaction.|Protein kinase. mitosis ATP binding|protein binding|protein serine/threonine kinase activity endometrium(1)|large_intestine(2)|lung(1) 4 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141) CACTAGACATCTGTTTCCAGA 0.358000 7 106 0 0 1 0 0 TRIP6 7205 broad.mit.edu 37 7 100468309 100468309 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:100468309C>T ENST00000200457.4 + 6 1303 c.943C>T c.(943-945)Cgc>Tgc p.R315C NM_003302.2 NP_003293.2 Q15654 TRIP6_HUMAN thyroid hormone receptor interactor 6 315 LIM zinc-binding 1. focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) GGCCCAGCTTCGCGGCCAGCA 0.617000 6 44 0 0 1 0 0 MIEF2 125170 broad.mit.edu 37 17 18167929 18167929 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:18167929G>C ENST00000323019.4 + 4 1427 c.1216G>C c.(1216-1218)Gag>Cag p.E406Q MIEF2_ENST00000395706.2_Missense_Mutation_p.E417Q|MIEF2_ENST00000395704.4_3'UTR NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 mitochondrial elongation factor 2 406 GCAAGCCCTGGAGCTGCTCAT 0.642000 5 71 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179572483 179572483 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr2:179572483C>T ENST00000589042.1 - 100 29035 c.28811G>A c.(28810-28812)gGa>gAa p.G9604E TTN_ENST00000591111.1_Missense_Mutation_p.G9287E|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G8360E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9287 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACGTATTCTCCTTCACTCAC 0.458000 5 105 0 0 1 0 0 NIPSNAP1 8508 broad.mit.edu 37 22 29966488 29966488 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr22:29966488G>A ENST00000216121.7 - 2 386 c.132C>T c.(130-132)ttC>ttT p.F44F NM_001202502.1|NM_003634.3 NP_001189431.1|NP_003625.2 Q9BPW8 NIPS1_HUMAN nipsnap homolog 1 (C. elegans) 44 p.?(1) large_intestine(2)|lung(2)|skin(1) 5 AGAGGGAGCGGAACCAGCTGC 0.552000 4 32 0 0 1 0 0 CLGN 1047 broad.mit.edu 37 4 141331735 141331735 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr4:141331735C>T ENST00000325617.5 - 3 630 c.190G>A c.(190-192)Gaa>Aaa p.E64K CLGN_ENST00000414773.1_Missense_Mutation_p.E64K|CLGN_ENST00000537281.1_Missense_Mutation_p.E64K NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 64 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) TCAAAAGTTTCTGCAAAATAT 0.299000 4 54 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9313698 9313698 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:9313698C>G ENST00000261336.2 - 23 2831 c.2803G>C c.(2803-2805)Gag>Cag p.E935Q PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Missense_Mutation_p.E721Q NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 GACAACTGCTCAGACACATTA 0.413000 31 86 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186283842 186283842 + Nonsense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:186283842G>A ENST00000367478.4 - 50 7251 c.6955C>T c.(6955-6957)Caa>Taa p.Q2319* NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GGCTTTGGTTGACTACTACTA 0.333000 T NTRK1 papillary thyroid 6 58 0 0 1 0 0 OR5M1 390168 broad.mit.edu 37 11 56380343 56380343 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:56380343G>A ENST00000526538.1 - 1 635 c.636C>T c.(634-636)ttC>ttT p.F212F NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 GAAGAATGATGAAGAGAGAGC 0.473000 16 98 0 0 1 0 0 PARP6 56965 broad.mit.edu 37 15 72552921 72552921 + Silent SNP C C T rs28625945 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr15:72552921C>T ENST00000569795.1 - 10 1341 c.654G>A c.(652-654)aaG>aaA p.K218K PARP6_ENST00000260376.7_Silent_p.K218K|PARP6_ENST00000287196.9_Silent_p.K218K|PARP6_ENST00000413097.2_5'UTR Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 218 NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 CTTTGGGGTTCTTCATGGTAC 0.582000 69 442 0 0 1 0 0 AKR1C3 8644 broad.mit.edu 37 10 5138765 5138765 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr10:5138765C>T ENST00000380554.3 + 2 900 c.248C>T c.(247-249)tCa>tTa p.S83L AKR1C3_ENST00000470862.2_3'UTR|AKR1C3_ENST00000605149.1_Missense_Mutation_p.S60L|AKR1C3_ENST00000439082.2_5'UTR NM_001253908.1|NM_003739.5 NP_001240837.1|NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 83 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) TTCTACACTTCAAAGGTACTG 0.408000 15 141 0 0 1 0 0 POP1 10940 broad.mit.edu 37 8 99149172 99149172 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr8:99149172C>T ENST00000401707.2 + 9 1433 c.1352C>T c.(1351-1353)tCt>tTt p.S451F POP1_ENST00000349693.3_Missense_Mutation_p.S451F NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 451 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) AAAGCTGCTTCTGTCCACACT 0.368000 6 124 0 0 1 0 0 OR4X2 119764 broad.mit.edu 37 11 48267202 48267202 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:48267202G>A ENST00000302329.3 + 1 595 c.547G>A c.(547-549)Gac>Aac p.D183N NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TGCCTGCTCTGACACCTTCCT 0.483000 15 266 0 0 1 0 0 SRGN 5552 broad.mit.edu 37 10 70863778 70863778 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr10:70863778G>A ENST00000242465.3 + 3 419 c.379G>A c.(379-381)Gat>Aat p.D127N SRGN_ENST00000462445.1_3'UTR NM_002727.2 NP_002718.2 P10124 SRGN_HUMAN serglycin 127 apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage extracellular space|mast cell granule|platelet alpha granule lumen large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3) 7 AGACGAAAGTGATGCTTTCCA 0.483000 8 90 0 0 1 0 0 SMEK1 55671 broad.mit.edu 37 14 91937337 91937337 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr14:91937337C>T ENST00000554684.1 - 10 1961 c.1465G>A c.(1465-1467)Gat>Aat p.D489N SMEK1_ENST00000337238.4_Missense_Mutation_p.D489N|SMEK1_ENST00000554943.1_Missense_Mutation_p.D502N|SMEK1_ENST00000428424.2_Missense_Mutation_p.D263N|SMEK1_ENST00000555462.1_Missense_Mutation_p.D263N NM_001284280.1 NP_001271209.1 Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 (Dictyostelium) 502 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1) 6 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) GTCTGAAAATCATCTAAAAGA 0.289000 11 47 0 0 1 0 0 SERAC1 84947 broad.mit.edu 37 6 158532517 158532517 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:158532517G>A ENST00000367104.3 - 17 1977 c.1846C>T c.(1846-1848)Cta>Tta p.L616L SERAC1_ENST00000367102.2_3'UTR NM_032861.3 NP_116250.3 Q96JX3 SRAC1_HUMAN serine active site containing 1 616 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) ACAGGAATTAGATCTCCAATG 0.348000 4 55 0 0 1 0 0 FKBP14 55033 broad.mit.edu 37 7 30066007 30066007 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:30066007G>A ENST00000222803.5 - 1 293 c.118C>T c.(118-120)Cgc>Tgc p.R40C NM_017946.3 NP_060416.1 Q9NWM8 FKB14_HUMAN FK506 binding protein 14, 22 kDa 40 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|large_intestine(2)|lung(2) 5 TTGGTCTTGCGATGGCAGATG 0.468000 8 119 0 0 1 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16531255 16531255 + Splice_Site SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:16531255C>T ENST00000270747.3 - 12 2042 c.1906G>A c.(1906-1908)Gag>Aag p.E636K ARHGEF19_ENST00000478117.1_5'UTR NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 636 PH. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) CCGACTCACTCCTTCCGCCGA 0.617000 10 20 0 0 1 0 0 SMEK1 55671 broad.mit.edu 37 14 91937257 91937257 + Missense_Mutation SNP C C G rs148837810 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr14:91937257C>G ENST00000554684.1 - 10 2041 c.1545G>C c.(1543-1545)aaG>aaC p.K515N SMEK1_ENST00000337238.4_Missense_Mutation_p.K515N|SMEK1_ENST00000554943.1_Missense_Mutation_p.K528N|SMEK1_ENST00000428424.2_Missense_Mutation_p.K289N|SMEK1_ENST00000555462.1_Missense_Mutation_p.K289N NM_001284280.1 NP_001271209.1 Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 (Dictyostelium) 528 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1) 6 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) TAATGTAGTTCTTTATGTGGT 0.358000 18 65 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115166229 115166229 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:115166229C>T ENST00000393274.1 - 5 1467 c.842G>A c.(841-843)cGa>cAa p.R281Q DENND2C_ENST00000393277.1_Missense_Mutation_p.R281Q|DENND2C_ENST00000393276.3_Missense_Mutation_p.R281Q|DENND2C_ENST00000481894.1_5'UTR NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 281 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTTCCGATTTCGAAAGTGCTG 0.303000 4 42 0 0 1 0 0 HTR2B 3357 broad.mit.edu 37 2 231978477 231978477 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr2:231978477G>A ENST00000258400.3 - 3 1031 c.519C>T c.(517-519)ttC>ttT p.F173F PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron NM_000867.4 NP_000858.3 P41595 5HT2B_HUMAN 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled 173 F -> L (in dbSNP:rs77570025). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction cytoplasm|integral to membrane|plasma membrane calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 11 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141) Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508) TAATCTTGATGAATGCTGTAG 0.428000 12 229 0 0 1 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183914 11183914 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:11183914G>A ENST00000390675.2 - 1 92 c.21C>T c.(19-21)atC>atT p.I7I PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 7 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 TGGAAAAAATGATGGGTATAA 0.398000 5 71 0 0 1 0 0 P2RX1 5023 broad.mit.edu 37 17 3801112 3801112 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:3801112G>C ENST00000225538.3 - 12 1470 c.1196C>G c.(1195-1197)tCc>tGc p.S399C NM_002558.2 NP_002549.1 P51575 P2RX1_HUMAN purinergic receptor P2X, ligand-gated ion channel, 1 399 platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) CGAGCATCAGGATGTCCTCAT 0.642000 8 17 0 0 1 0 0 LSS 4047 broad.mit.edu 37 21 47614422 47614422 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr21:47614422C>T ENST00000397728.3 - 20 2049 c.1971G>A c.(1969-1971)atG>atA p.M657I LSS_ENST00000457828.2_Missense_Mutation_p.M577I|LSS_ENST00000522411.1_Missense_Mutation_p.M646I|LSS_ENST00000356396.4_Missense_Mutation_p.M657I NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 657 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) CCATCAGCCCCATCATGGCCC 0.632000 4 34 0 0 1 0 0 ZNF615 284370 broad.mit.edu 37 19 52497183 52497183 + Silent SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:52497183G>C ENST00000602063.1 - 6 1495 c.1146C>G c.(1144-1146)acC>acG p.T382T ZNF615_ENST00000598071.1_Silent_p.T393T|ZNF615_ENST00000391795.3_Silent_p.T387T|ZNF615_ENST00000594083.1_Silent_p.T393T|ZNF615_ENST00000376716.5_Silent_p.T382T Q8N8J6 ZN615_HUMAN zinc finger protein 615 382 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TGTTCTTCAAGGTGAAGCCTT 0.398000 10 93 0 0 1 0 0 RAD23A 5886 broad.mit.edu 37 19 13056771 13056771 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:13056771C>T ENST00000586534.1 + 1 70 c.9C>T c.(7-9)gtC>gtT p.V3V RAD23A_ENST00000316856.3_Silent_p.V3V|RAD23A_ENST00000592268.1_Silent_p.V3V|RAD23A_ENST00000541222.1_5'UTR P54725 RD23A_HUMAN RAD23 homolog A (S. cerevisiae) 3 Ubiquitin-like. interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 CCATGGCCGTCACCATCACGC 0.726000 Nucleotide excision repair (NER) 4 31 0 0 1 0 0 PSMB8 5696 broad.mit.edu 37 6 32810816 32810816 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:32810816C>T ENST00000374881.2 - 2 475 c.186G>A c.(184-186)caG>caA p.Q62Q PSMB8_ENST00000374882.3_Silent_p.Q66Q|PSMB8_ENST00000395339.3_Silent_p.Q66Q NM_004159.4 NP_004150.1 P28062 PSB8_HUMAN proteasome (prosome, macropain) subunit, beta type, 8 66 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 11 CCATCTCAATCTGAACGTTCC 0.507000 7 69 0 0 1 0 0 YTHDF2 51441 broad.mit.edu 37 1 29070328 29070328 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:29070328G>A ENST00000373812.3 + 4 1908 c.1546G>A c.(1546-1548)Gag>Aag p.E516K YTHDF2_ENST00000542507.1_Missense_Mutation_p.E516K|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.E466K NM_016258.2 NP_057342.2 Q9Y5A9 YTHD2_HUMAN YTH domain family, member 2 516 YTH. humoral immune response p.E516Q(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) CATTCGCCTAGAGAACAACGA 0.478000 6 94 0 0 1 0 0 UST 10090 broad.mit.edu 37 6 149262491 149262491 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:149262491G>A ENST00000367463.4 + 3 471 c.368G>A c.(367-369)aGa>aAa p.R123K NM_005715.2 NP_005706.1 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 123 protein sulfation Golgi membrane|integral to membrane sulfotransferase activity breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2) 12 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) TTGCTTCTGAGAATCTTGTCG 0.438000 9 159 0 0 1 0 0 ISLR2 57611 broad.mit.edu 37 15 74425216 74425216 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr15:74425216G>C ENST00000361742.3 + 4 890 c.121G>C c.(121-123)Gag>Cag p.E41Q ISLR2_ENST00000565159.1_Missense_Mutation_p.E41Q|ISLR2_ENST00000445793.1_Missense_Mutation_p.E41Q|ISLR2_ENST00000565540.1_Missense_Mutation_p.E41Q|ISLR2_ENST00000435464.1_Missense_Mutation_p.E41Q|ISLR2_ENST00000453268.2_Missense_Mutation_p.E41Q|ISLR2_ENST00000419208.1_Missense_Mutation_p.E41Q|ISLR2_ENST00000561975.1_Intron NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 41 LRRNT. positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 CGCTTACAAAGAGTTGCGTGA 0.637000 10 89 0 0 1 0 0 FBXO15 201456 broad.mit.edu 37 18 71797676 71797676 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr18:71797676G>A ENST00000269500.5 - 4 657 c.322C>T c.(322-324)Cca>Tca p.P108S FBXO15_ENST00000419743.2_Missense_Mutation_p.P184S NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 108 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) GTCTTAACTGGAAGGCCTGTG 0.433000 8 74 0 0 1 0 0 FDXACB1 91893 broad.mit.edu 37 11 111746739 111746739 + Missense_Mutation SNP C C A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:111746739C>A ENST00000260257.4 - 5 829 c.782G>T c.(781-783)aGg>aTg p.R261M ALG9_ENST00000527377.1_5'UTR|FDXACB1_ENST00000542429.1_Missense_Mutation_p.R112M|ALG9_ENST00000524880.1_Intron NM_138378.2 NP_612387.1 Q9BRP7 FDXA1_HUMAN ferredoxin-fold anticodon binding domain containing 1 261 phenylalanyl-tRNA aminoacylation|tRNA processing ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3) 19 ACACTTCAGCCTTTTTAGCGG 0.423000 19 108 1.67942e-08 1.74279e-08 1 1 0 TUBBP5 643224 broad.mit.edu 37 9 141070824 141070824 + RNA SNP T T G rs9410092 by1000genomes TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr9:141070824T>G ENST00000503395.1 + 0 1599 TCTGGGATGGTTACCCTCCTC 0.582000 4 48 0 0 1 0 0 IL15RA 3601 broad.mit.edu 37 10 5995118 5995118 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr10:5995118C>T ENST00000525219.2 - 7 930 c.636G>A c.(634-636)ccG>ccA p.P212P IL15RA_ENST00000528354.1_Silent_p.P215P|IL15RA_ENST00000397251.3_Silent_p.P183P|IL15RA_ENST00000379977.3_Silent_p.P248P|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397250.2_Silent_p.P150P|IL15RA_ENST00000379971.1_3'UTR|IL15RA_ENST00000397248.2_Silent_p.P212P NM_001243539.1 NP_001230468.1 Q13261 I15RA_HUMAN interleukin 15 receptor, alpha 248 cell proliferation cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane cytokine receptor activity p.P248P(1) cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 CCCAAGTCACCGGCAGAGCCT 0.557000 12 82 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3677353 3677353 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr20:3677353C>T ENST00000344754.4 - 10 2562 c.2563G>A c.(2563-2565)Gag>Aag p.E855K SIGLEC1_ENST00000202578.4_Missense_Mutation_p.E855K NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 855 Ig-like C2-type 8. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GAGTTGGCCTCAGCTTTAGCC 0.617000 7 126 0 0 1 0 0 GBX2 2637 broad.mit.edu 37 2 237074842 237074842 + Missense_Mutation SNP G G T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr2:237074842G>T ENST00000306318.4 - 2 1159 c.762C>A c.(760-762)ttC>ttA p.F254L GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR NM_001485.2 NP_001476.2 P52951 GBX2_HUMAN gastrulation brain homeobox 2 254 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) GCTCGCTGGTGAAGGCAGTCC 0.672000 8 61 0.000274275 0.000280654 1 1 0 TRIM51 84767 broad.mit.edu 37 11 55652900 55652900 + Splice_Site SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:55652900G>A ENST00000449290.2 + 2 88 c.e2-1 NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 intracellular zinc ion binding TTCTTCTTCAGAAACATGAAT 0.453000 8 169 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32163377 32163377 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:32163377G>A ENST00000375023.3 - 30 5987 c.5849C>T c.(5848-5850)cCc>cTc p.P1950L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1950 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CCAATCACAGGGCCAGTCATC 0.647000 13 111 0 0 1 0 0 MRPS27 23107 broad.mit.edu 37 5 71516873 71516873 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr5:71516873C>G ENST00000261413.5 - 11 1147 c.1108G>C c.(1108-1110)Gag>Cag p.E370Q MRPS27_ENST00000513900.1_Missense_Mutation_p.E384Q|MRPS27_ENST00000457646.4_Missense_Mutation_p.E314Q NM_015084.2 NP_055899.2 Q92552 RT27_HUMAN mitochondrial ribosomal protein S27 370 mitochondrion|ribosome breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.46e-53) GCGATGTCCTCTGCTTCACAG 0.483000 6 107 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14756871 14756871 + Nonsense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:14756871G>A ENST00000253697.3 + 9 1841 c.1389G>A c.(1387-1389)tgG>tgA p.W463* C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Nonsense_Mutation_p.W341*|C3orf20_ENST00000412910.1_Nonsense_Mutation_p.W341* NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 463 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 TCCACAAGTGGAGCTGGACTT 0.537000 7 68 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171404524 171404524 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:171404524G>A ENST00000351298.4 - 16 1944 c.1818C>T c.(1816-1818)ctC>ctT p.L606L PLD1_ENST00000342215.6_Intron|PLD1_ENST00000340989.4_Silent_p.L606L|PLD1_ENST00000356327.5_Intron NM_002662.4 NP_002653.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 606 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) ACGGGTGAAAGAGTTTGAAGT 0.368000 17 185 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30731577 30731577 + Missense_Mutation SNP G G T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr16:30731577G>T ENST00000262518.4 + 19 3297 c.2912G>T c.(2911-2913)cGc>cTc p.R971L SRCAP_ENST00000395059.2_Missense_Mutation_p.R971L|SRCAP_ENST00000344771.4_Missense_Mutation_p.R971L NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 971 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CGCCTCTCTCGCCGGGTACTG 0.567000 43 212 5.44703e-19 5.76128e-19 1 1 0 AAR2 25980 broad.mit.edu 37 20 34828021 34828021 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr20:34828021C>T ENST00000373932.3 + 2 577 c.231C>T c.(229-231)ttC>ttT p.F77F AAR2_ENST00000397286.3_Silent_p.F77F|AAR2_ENST00000320849.4_Silent_p.F77F NM_015511.3 NP_056326.2 AAR2 splicing factor homolog (S. cerevisiae) GTATGGGTTTCTTCCTTAGCC 0.597000 6 102 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143018480 143018480 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:143018480G>A ENST00000343257.2 + 4 543 c.456G>A c.(454-456)caG>caA p.Q152Q NM_000083.2 NP_000074 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 152 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CCTACGCGCAGATGCAGCCCA 0.617000 6 46 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45140739 45140739 + Translation_Start_Site SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr20:45140739C>T ENST00000347606.4 - 2 185 c.3G>A c.(1-3)atG>atA p.M1I ZNF334_ENST00000457685.2_5'UTR NM_018102.4 NP_060572.3 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) TTTTCATTTTCATGTTCTCTT 0.403000 8 71 0 0 1 0 0 DDX5 1655 broad.mit.edu 37 17 62502215 62502215 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:62502215C>T ENST00000225792.5 - 1 424 c.23G>A c.(22-24)cGa>cAa p.R8Q DDX5_ENST00000450599.2_Missense_Mutation_p.R8Q NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 8 cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) GCCGCGGTCTCGGTCACTCGA 0.652000 T ETV4 prostate 4 9 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 4 20 0 0 1 0 0 FSD1 79187 broad.mit.edu 37 19 4305978 4305978 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:4305978G>A ENST00000221856.6 + 2 198 c.51G>A c.(49-51)gtG>gtA p.V17V FSD1_ENST00000597590.1_Silent_p.V17V NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 17 cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) CACTGGCTGTGAAGAATGAAG 0.537000 19 58 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67793052 67793052 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr15:67793052G>A ENST00000335894.4 + 21 3118 c.3052G>A c.(3052-3054)Gat>Aat p.D1018N IQCH_ENST00000358767.3_3'UTR|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_3'UTR|IQCH_ENST00000546225.1_Missense_Mutation_p.D675N NM_001031715.2 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H 1018 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) ACAGTCCAAAGATGATAAAAA 0.328000 7 57 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64669802 64669802 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:64669802G>C ENST00000421419.2 - 28 3954 c.3840C>G c.(3838-3840)atC>atG p.I1280M ATG2A_ENST00000377264.3_Missense_Mutation_p.I1278M Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1278 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 CACGCTGGTTGATGAGGGCCG 0.672000 3 18 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37881392 37881392 + Missense_Mutation SNP A A G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:37881392A>G ENST00000406381.2 + 23 3004 c.2494A>G c.(2494-2496)Aca>Gca p.T832A ERBB2_ENST00000540147.1_Missense_Mutation_p.T832A|ERBB2_ENST00000584601.1_Missense_Mutation_p.T832A|ERBB2_ENST00000269571.5_Missense_Mutation_p.T862A|ERBB2_ENST00000541774.1_Missense_Mutation_p.T847A|ERBB2_ENST00000445658.2_Missense_Mutation_p.T586A|ERBB2_ENST00000584450.1_Missense_Mutation_p.T862A NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 862 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.T862A(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) TGTCAAAATTACAGACTTCGG 0.582000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 15 72 0 0 1 0 0 LUZP1 7798 broad.mit.edu 37 1 23418665 23418665 + Missense_Mutation SNP C C T rs141739515 by1000genomes TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:23418665C>T ENST00000302291.4 - 4 2891 c.2090G>A c.(2089-2091)cGa>cAa p.R697Q LUZP1_ENST00000374623.3_Missense_Mutation_p.R697Q|LUZP1_ENST00000418342.1_Missense_Mutation_p.R697Q|LUZP1_ENST00000314174.5_Missense_Mutation_p.R697Q Q86V48 LUZP1_HUMAN leucine zipper protein 1 697 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) AGGTGCCCCTCGGGTTTTAGC 0.463000 19 382 0 0 1 0 0 CDK2 1017 broad.mit.edu 37 12 56361840 56361840 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:56361840G>A ENST00000266970.4 + 3 442 c.202G>A c.(202-204)Gat>Aat p.D68N CDK2_ENST00000553376.1_Missense_Mutation_p.D68N|CDK2_ENST00000440311.2_Missense_Mutation_p.D42N|CDK2_ENST00000354056.4_Missense_Mutation_p.D68N|CDK2_ENST00000556656.1_3'UTR NM_001798.3 NP_001789.2 P24941 CDK2_HUMAN cyclin-dependent kinase 2 68 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol ATP binding|cyclin-dependent protein kinase activity|identical protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 18 UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235) TAGGCTGCTGGATGTCATTCA 0.443000 16 104 0 0 1 0 0 ZBED1 9189 broad.mit.edu 37 X 2407457 2407457 + Missense_Mutation SNP T T C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chrX:2407457T>C ENST00000381223.4 - 2 1507 c.1304A>G c.(1303-1305)aAc>aGc p.N435S ZBED1_ENST00000381218.3_Missense_Mutation_p.N435S|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.N435S NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 435 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTCCTTGATGTTGAGCGTGGT 0.587000 13 88 0 0 1 0 0 IRS2 8660 broad.mit.edu 37 13 110434606 110434606 + Silent SNP T T G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr13:110434606T>G ENST00000375856.3 - 1 4309 c.3795A>C c.(3793-3795)ccA>ccC p.P1265P NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1265 Poly-Pro. fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) gcggctggggtggcagcCCGG 0.701000 8 12 0 0 1 0 0 SULT1C2 6819 broad.mit.edu 37 2 108910720 108910720 + Missense_Mutation SNP G G C rs144954759 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr2:108910720G>C ENST00000326853.5 + 3 640 c.187G>C c.(187-189)Gaa>Caa p.E63Q SULT1C2_ENST00000409880.1_Missense_Mutation_p.E63Q|SULT1C2_ENST00000251481.6_Missense_Mutation_p.E63Q|SULT1C2_ENST00000437390.2_Missense_Mutation_p.E63Q NM_176825.2 NP_789795.1 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 2 63 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 GGATATGATTGAACAGAATGG 0.517000 9 188 0 0 1 0 0 PARP9 83666 broad.mit.edu 37 3 122259634 122259634 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:122259634G>A ENST00000462315.1 - 8 1743 c.1450C>T c.(1450-1452)Ctg>Ttg p.L484L PARP9_ENST00000492382.1_Silent_p.L64L|PARP9_ENST00000477522.2_Silent_p.L484L|PARP9_ENST00000471785.1_Silent_p.L484L|PARP9_ENST00000360356.2_Silent_p.L519L NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 519 Macro 2. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) AATCCCATCAGATTGATGGCA 0.438000 9 161 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585237 82585237 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:82585237C>T ENST00000333891.9 - 5 5369 c.5032G>A c.(5032-5034)Gat>Aat p.D1678N PCLO_ENST00000423517.2_Missense_Mutation_p.D1678N NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GAATATTTATCTGCTATTGTA 0.388000 5 89 0 0 1 0 0 CCT8 10694 broad.mit.edu 37 21 30439221 30439221 + Nonsense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr21:30439221G>A ENST00000286788.4 - 5 759 c.553C>T c.(553-555)Cag>Tag p.Q185* CCT8_ENST00000540844.1_Nonsense_Mutation_p.Q112*|CCT8_ENST00000542732.1_Nonsense_Mutation_p.Q166*|CCT8_ENST00000470450.1_5'UTR NM_006585.2 NP_006576.2 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 185 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3) 14 CCGCATGCCTGAGCAATAAGC 0.328000 4 62 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32091004 32091004 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr5:32091004G>A ENST00000438447.1 + 20 7838 c.7450G>A c.(7450-7452)Gag>Aag p.E2484K PDZD2_ENST00000282493.3_Missense_Mutation_p.E2484K O15018 PDZD2_HUMAN PDZ domain containing 2 2484 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 CAAGCTCCAGGAGCTGAGAGC 0.592000 12 171 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21716257 21716257 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:21716257C>T ENST00000261195.2 - 6 1100 c.846G>A c.(844-846)ttG>ttA p.L282L NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 282 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TCTTAACATTCAAGCCGTTTG 0.333000 6 102 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70505042 70505042 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:70505042G>A ENST00000310961.5 + 22 3854 c.3436G>A c.(3436-3438)Gat>Aat p.D1146N LRRC7_ENST00000035383.5_Missense_Mutation_p.D1141N|LRRC7_ENST00000415775.2_Missense_Mutation_p.D425N Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1141 centrosome|focal adhesion|nucleolus protein binding p.D1141N(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GCCCCCAACTGATAGGTACGG 0.572000 40 112 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54901657 54901657 + Silent SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:54901657C>G ENST00000293373.6 + 4 406 c.327C>G c.(325-327)ctC>ctG p.L109L NCKAP1L_ENST00000545638.2_Silent_p.L59L NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 109 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 ATGAACTTCTCAACACCATTG 0.423000 42 158 0 0 1 0 0 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 4 59 0 0 1 0 0 SRPRB 58477 broad.mit.edu 37 3 133524732 133524732 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:133524732G>A ENST00000466490.2 + 2 325 c.40G>A c.(40-42)Ggt>Agt p.G14S NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit 14 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity p.G14S(1) breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 AGATGGCGGCGGTGCCGGGGG 0.672000 21 61 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125113410 125113410 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr8:125113410C>T ENST00000522917.1 + 38 5162 c.4956C>T c.(4954-4956)aaC>aaT p.N1652N FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.N1652N NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1652 C2 6. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GAGAGGGCAACTTCAACTGGC 0.433000 9 79 0 0 1 0 0 RBBP5 5929 broad.mit.edu 37 1 205069074 205069074 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:205069074G>A ENST00000264515.6 - 8 1012 c.871C>T c.(871-873)Cat>Tat p.H291Y RBBP5_ENST00000367164.1_Missense_Mutation_p.H291Y NM_001193273.1|NM_005057.3 NP_001180202.1|NP_005048.2 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 291 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 27 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) CTCGTCCCATGGAGAATCTTC 0.458000 47 196 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606383 84606383 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr9:84606383C>T ENST00000344803.2 + 4 1045 c.998C>T c.(997-999)tCt>tTt p.S333F NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CTAGGTGGCTCTGGTGGGTCA 0.483000 9 161 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558346 106558346 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:106558346G>C ENST00000526355.2 - 8 2596 c.2128C>G c.(2128-2130)Ctt>Gtt p.L710V GUCY1A2_ENST00000347596.2_Missense_Mutation_p.L731V|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.L741V NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GACGAAGAAAGAGAAGGCTTT 0.488000 16 154 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111785494 111785494 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:111785494G>C ENST00000261726.6 + 22 3980 c.3826G>C c.(3826-3828)Gag>Cag p.E1276Q NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1276 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GAAGGAACTGGAGCTTCAGGA 0.617000 10 66 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23526534 23526534 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr5:23526534G>A ENST00000296682.3 + 11 1519 c.1337G>A c.(1336-1338)aGc>aAc p.S446N NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 446 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.S446N(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GATCCACACAGCCGTAATGAC 0.473000 HNSCC(3;0.000094) 69 67 0 0 1 0 0 SPESP1 246777 broad.mit.edu 37 15 69238236 69238236 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr15:69238236C>G ENST00000310673.3 + 2 517 c.363C>G c.(361-363)ttC>ttG p.F121L SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA NM_145658.3 NP_663633.1 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 121 multicellular organismal development acrosomal vesicle breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 19 GTACCCCATTCTGGTCGATCA 0.428000 11 70 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35716479 35716479 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr9:35716479C>T ENST00000314888.9 - 20 2886 c.2533G>A c.(2533-2535)Gag>Aag p.E845K TLN1_ENST00000540444.1_Missense_Mutation_p.E845K NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 845 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CTTTCCCCCTCAGCATCAGCC 0.572000 9 138 0 0 1 0 0 PHTF2 57157 broad.mit.edu 37 7 77539723 77539723 + Nonsense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:77539723C>G ENST00000416283.2 + 7 797 c.671C>G c.(670-672)tCa>tGa p.S224* PHTF2_ENST00000450574.1_Nonsense_Mutation_p.S224*|PHTF2_ENST00000424760.1_Nonsense_Mutation_p.S220*|PHTF2_ENST00000415251.2_Nonsense_Mutation_p.S220*|PHTF2_ENST00000275575.7_Nonsense_Mutation_p.S220*|PHTF2_ENST00000422959.2_Nonsense_Mutation_p.S224*|PHTF2_ENST00000248550.7_Nonsense_Mutation_p.S258*|PHTF2_ENST00000307305.8_Nonsense_Mutation_p.S220*|PHTF2_ENST00000454592.1_3'UTR NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 TTCTTTTTATCAGGGTTTGTA 0.398000 3 29 0 0 1 0 0 OR2AK2 391191 broad.mit.edu 37 1 248128674 248128674 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:248128674C>T ENST00000366480.3 + 1 140 c.41C>T c.(40-42)tCa>tTa p.S14L OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATTTTGGTTTCAGCCATGAAA 0.343000 7 110 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14000230 14000230 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:14000230G>A ENST00000454313.1 - 6 1497 c.1439C>T c.(1438-1440)tCt>tTt p.S480F C19orf57_ENST00000586783.1_Missense_Mutation_p.S480F|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.S480F Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 480 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CAGCACAACAGAGGCTTGCGG 0.607000 11 116 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50708622 50708622 + Silent SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr10:50708622C>G ENST00000355832.5 - 7 1725 c.1647G>C c.(1645-1647)ctG>ctC p.L549L ERCC6_ENST00000542458.1_5'UTR NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 549 Helicase ATP-binding. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TGCTGTAGCTCAGACCTGCCA 0.483000 Direct reversal of damage;Nucleotide excision repair (NER) 13 114 0 0 1 0 0 MIEF2 125170 broad.mit.edu 37 17 18167950 18167950 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:18167950G>C ENST00000323019.4 + 4 1448 c.1237G>C c.(1237-1239)Gag>Cag p.E413Q MIEF2_ENST00000395706.2_Missense_Mutation_p.E424Q|MIEF2_ENST00000395704.4_3'UTR NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 mitochondrial elongation factor 2 413 CGGCAGCCTGGAGCAGGCCAG 0.622000 6 55 0 0 1 0 0 TTC26 79989 broad.mit.edu 37 7 138822675 138822675 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:138822675G>A ENST00000464848.1 + 3 304 c.224G>A c.(223-225)aGa>aAa p.R75K TTC26_ENST00000495038.1_Missense_Mutation_p.R75K|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000430935.1_Missense_Mutation_p.R75K|TTC26_ENST00000343187.4_Intron|TTC26_ENST00000478836.2_Missense_Mutation_p.R75K|TTC26_ENST00000474035.2_Missense_Mutation_p.R75K A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 75 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 GACTACAAGAGAGCTCTGGAG 0.313000 6 114 0 0 1 0 0 RTN4IP1 84816 broad.mit.edu 37 6 107067168 107067168 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:107067168G>C ENST00000539449.1 - 4 1005 c.529C>G c.(529-531)Caa>Gaa p.Q177E RTN4IP1_ENST00000369063.3_Missense_Mutation_p.Q177E Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 177 mitochondrion oxidoreductase activity|zinc ion binding breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) GAGGCAGCTTGAGTATGAGTG 0.413000 10 78 0 0 1 0 0 RNF135 84282 broad.mit.edu 37 17 29325811 29325811 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:29325811C>G ENST00000328381.5 + 5 1774 c.901C>G c.(901-903)Cag>Gag p.Q301E RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR NM_032322.3 NP_115698.3 Q8IUD6 RN135_HUMAN ring finger protein 135 301 B30.2/SPRY. innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response cytosol protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding p.?(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1) 10 all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255) TTCTACCAGCCAGGTCTTATG 0.557000 7 72 0 0 1 0 0 PLEKHH3 79990 broad.mit.edu 37 17 40823447 40823447 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:40823447C>T ENST00000293349.6 - 8 1636 c.1206G>A c.(1204-1206)caG>caA p.Q402Q PLEKHH3_ENST00000412503.1_Silent_p.Q402Q|PLEKHH3_ENST00000591022.1_Silent_p.Q402Q|PLEKHH3_ENST00000456950.2_5'UTR Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 402 signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) ACAGCAGCTCCTGCCGTTGGC 0.677000 5 41 0 0 1 0 0 USP21 27005 broad.mit.edu 37 1 161132715 161132715 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:161132715G>A ENST00000368002.3 + 7 1277 c.900G>A c.(898-900)caG>caA p.Q300Q USP21_ENST00000368001.1_Silent_p.Q300Q|USP21_ENST00000289865.8_Silent_p.Q300Q NM_001014443.2 NP_001014443.1 Q9UK80 UBP21_HUMAN ubiquitin specific peptidase 21 300 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GTAGCCAGCAGGATGCCCAAG 0.557000 9 78 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882660 228882660 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr2:228882660C>T ENST00000392056.3 - 7 2956 c.2910G>A c.(2908-2910)atG>atA p.M970I SPHKAP_ENST00000344657.5_Missense_Mutation_p.M970I NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 970 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CGTTGGGTGTCATCAGAAACT 0.527000 13 98 0 0 1 0 0 LDOC1L 84247 broad.mit.edu 37 22 44892894 44892894 + Silent SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr22:44892894G>C ENST00000341255.3 - 2 1052 c.543C>G c.(541-543)ctC>ctG p.L181L NM_032287.2 NP_115663.2 Q6ICC9 LDOCL_HUMAN leucine zipper, down-regulated in cancer 1-like 181 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2) 11 Ovarian(80;0.024)|all_neural(38;0.0416) LUAD - Lung adenocarcinoma(64;0.0161) GCGCATGCCGGAGCGGAGACT 0.622000 19 29 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 6 96 0 0 1 0 0 VCP 7415 broad.mit.edu 37 9 35062058 35062058 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr9:35062058C>T ENST00000358901.6 - 9 1918 c.1023G>A c.(1021-1023)gtG>gtA p.V341V NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 341 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CCATAACAATCACATGTGCCC 0.527000 14 85 0 0 1 0 0 BOLA1 51027 broad.mit.edu 37 1 149871751 149871751 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:149871751G>A ENST00000369153.2 + 3 803 c.139G>A c.(139-141)Gag>Aag p.E47K BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Missense_Mutation_p.E47K|BOLA1_ENST00000369150.1_Missense_Mutation_p.E47K Q9Y3E2 BOLA1_HUMAN bolA family member 1 47 extracellular region protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 10 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CCTGAGCCCCGAGGTGCTAGA 0.677000 4 36 0 0 1 0 0 PIH1D1 55011 broad.mit.edu 37 19 49954759 49954759 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:49954759C>T ENST00000262265.5 - 1 308 c.73G>A c.(73-75)Gag>Aag p.E25K PIH1D1_ENST00000596049.1_Missense_Mutation_p.E25K NM_017916.2 NP_060386.1 Q9NWS0 PIHD1_HUMAN PIH1 domain containing 1 25 box C/D snoRNP assembly pre-snoRNP complex NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 11 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) AGCAGCTCCTCAAATCGCGCC 0.602000 6 90 0 0 1 0 0 SUSD5 26032 broad.mit.edu 37 3 33255473 33255473 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:33255473C>G ENST00000309558.3 - 2 654 c.237G>C c.(235-237)caG>caC p.Q79H NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 79 Link. cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 AGGAGCAATCCTGTACCACTC 0.582000 5 101 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077358 19077358 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:19077358G>A ENST00000329773.2 - 2 679 c.592C>T c.(592-594)Ctc>Ttc p.L198F NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 198 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 GACCCACAGAGAACCATGAAT 0.517000 7 63 0 0 1 0 0 EIF4E2 9470 broad.mit.edu 37 2 233421234 233421234 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr2:233421234G>C ENST00000409514.1 + 2 171 c.129G>C c.(127-129)aaG>aaC p.K43N EIF4E2_ENST00000409167.3_Missense_Mutation_p.K43N|EIF4E2_ENST00000258416.3_Missense_Mutation_p.K43N|EIF4E2_ENST00000409322.1_Missense_Mutation_p.K43N|EIF4E2_ENST00000409495.1_Missense_Mutation_p.K43N|EIF4E2_ENST00000479834.1_3'UTR|EIF4E2_ENST00000409098.1_Missense_Mutation_p.K43N|EIF4E2_ENST00000409394.1_Missense_Mutation_p.K43N NM_001282958.1 NP_001269887.1 O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E family member 2 43 regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GCAGTAGCAAGAGAAAGGTGA 0.408000 4 23 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65146982 65146982 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:65146982G>A ENST00000371073.2 + 25 3448 c.3448G>A c.(3448-3450)Gaa>Aaa p.E1150K CACHD1_ENST00000290039.5_Missense_Mutation_p.E1099K|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 1150 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TGACAGAGATGAAAGGGACGA 0.428000 7 126 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17746845 17746845 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:17746845G>A ENST00000428389.2 - 27 3466 c.3467C>T c.(3466-3468)cCc>cTc p.P1156L UNC13A_ENST00000550896.1_Missense_Mutation_p.P1066L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P1068L|UNC13A_ENST00000551649.1_Missense_Mutation_p.P1068L|UNC13A_ENST00000519716.2_Missense_Mutation_p.P1068L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P1068L Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1068 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GTTGAGGCAGGGAGTGTAGGA 0.448000 6 20 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111604194 111604194 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:111604194G>A ENST00000431670.2 + 2 1681 c.1270G>A c.(1270-1272)Gac>Aac p.D424N PHLDB2_ENST00000481953.1_Missense_Mutation_p.D424N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.D424N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.D424N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.D424N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.D424N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.D451N NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 424 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 AGGACGTGATGACCTGATGGA 0.522000 10 113 0 0 1 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033729 82033729 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr16:82033729C>G ENST00000328945.5 - 3 296 c.169G>C c.(169-171)Gac>Cac p.D57H SDR42E1_ENST00000534209.1_5'UTR NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 57 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 TGGCGGATGTCTCCTTGTATA 0.498000 13 156 0 0 1 0 0 SMYD4 114826 broad.mit.edu 37 17 1704306 1704306 + Missense_Mutation SNP C C T rs151287405 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:1704306C>T ENST00000305513.7 - 5 549 c.382G>A c.(382-384)Gac>Aac p.D128N NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 128 zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 CTGTTAATGTCTTTAAGACAC 0.418000 14 137 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38431407 38431407 + Missense_Mutation SNP T T C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:38431407T>C ENST00000356264.2 - 19 2035 c.1820A>G c.(1819-1821)gAc>gGc p.D607G AMPH_ENST00000325590.5_Missense_Mutation_p.D565G|AMPH_ENST00000428293.2_Missense_Mutation_p.D565G NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 607 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TGCTAGCTGGTCAGCAGCCCC 0.547000 5 45 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820980 106820980 + Missense_Mutation SNP A A T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:106820980A>T ENST00000228347.4 + 13 1329 c.1107A>T c.(1105-1107)ttA>ttT p.L369F POLR3B_ENST00000539066.1_Missense_Mutation_p.L311F|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 369 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTAGCTTTTATCTCTTCTTT 0.269000 6 12 0 0 1 0 0 DESI1 27351 broad.mit.edu 37 22 42000121 42000121 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr22:42000121C>T ENST00000263256.6 - 4 473 c.217G>A c.(217-219)Gat>Aat p.D73N DESI1_ENST00000463886.1_5'UTR NM_015704.2 NP_056519.1 Q6ICB0 PPDE2_HUMAN desumoylating isopeptidase 1 73 PPPDE peptidase. CTCCCCACATCAACCACAGAG 0.507000 6 114 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587678 55587678 + Silent SNP T T A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:55587678T>A ENST00000333976.4 + 1 593 c.573T>A c.(571-573)tcT>tcA p.S191S NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TTTCTTGCTCTGATACTTACA 0.398000 16 133 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147481356 147481356 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr5:147481356G>A ENST00000359874.3 + 15 1388 c.1315G>A c.(1315-1317)Gaa>Aaa p.E439K SPINK5_ENST00000256084.7_Missense_Mutation_p.E439K|SPINK5_ENST00000398454.1_Missense_Mutation_p.E439K NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 439 Kazal-like 7. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTGTGTAGTGAATACCGCAA 0.428000 8 76 0 0 1 0 0 AKR1B15 441282 broad.mit.edu 37 7 134260673 134260673 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:134260673G>A ENST00000457545.2 + 8 997 c.737G>A c.(736-738)aGa>aAa p.R246K AKR1B15_ENST00000423958.1_Missense_Mutation_p.R218K NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 246 oxidoreductase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 TCTCCGGATAGACCTTGGTGA 0.478000 4 26 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38591869 38591869 + Silent SNP A A G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:38591869A>G ENST00000413689.1 - 28 6187 c.5994T>C c.(5992-5994)agT>agC p.S1998S SCN5A_ENST00000333535.4_Silent_p.S1998S|SCN5A_ENST00000414099.2_Silent_p.S1980S|SCN5A_ENST00000423572.2_Silent_p.S1997S|SCN5A_ENST00000455624.2_Silent_p.S1965S|SCN5A_ENST00000443581.1_Silent_p.S1997S|SCN5A_ENST00000425664.1_Silent_p.S1980S|SCN5A_ENST00000450102.2_Silent_p.S1944S|SCN5A_ENST00000449557.2_Silent_p.S1944S|SCN5A_ENST00000451551.2_Silent_p.S1944S NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1998 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CGAGATCTTCACTGTGGCTGT 0.597000 15 91 0 0 1 0 0 MAP4K4 9448 broad.mit.edu 37 2 102499087 102499087 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr2:102499087G>A ENST00000413150.2 + 24 2825 c.2770G>A c.(2770-2772)Gag>Aag p.E924K MAP4K4_ENST00000347699.4_Missense_Mutation_p.E1009K|MAP4K4_ENST00000456652.1_Missense_Mutation_p.E808K|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E1042K|MAP4K4_ENST00000302217.5_Missense_Mutation_p.E812K|MAP4K4_ENST00000350878.4_Missense_Mutation_p.E1049K|MAP4K4_ENST00000350198.4_Missense_Mutation_p.E928K|MAP4K4_ENST00000324219.4_Missense_Mutation_p.E1090K NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 1009 Mediates interaction with RAP2A. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TCCAGAAGTTGAGAAGAAGCA 0.333000 6 104 0 0 1 0 0 RP4-663N10.1 0 broad.mit.edu 37 1 115828508 115828508 + RNA DEL A A - TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:115828508delA ENST00000425449.1 + 0 207 GATTTTACTCAAAAAAAATAA 0.408 2 4 --- --- --- --- SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 NR_104189.1 CTACTTACATCTTTTTGTCTTT 0.441 7 34 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cacagcfs p.HS1901fs FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(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) CTGGCTTGGCTGTGTGTGTGTC 0.515 7 468 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65150824 65150825 + RNA INS - - G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:65150824_65150825insG ENST00000430126.2 + 0 757 TCACCCCCCCCCCCGTTAAAAT 0.470 3 2 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89405323 89405326 + RNA DEL TTTA TTTA - rs34562444 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:89405323_89405326delTTTA ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 aattatattgtttatttatttttg 0.230 6 3 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086382 20086383 + RNA INS - - AAAA TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr14:20086382_20086383insAAAA ENST00000548261.1 + 0 135 TCTTACAAGGTAAAAAAAATGA 0.312 4 7 --- --- --- --- TMEM121 80757 broad.mit.edu 37 14 105996050 105996052 + In_Frame_Del DEL GCC GCC - rs5811180 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr14:105996050_105996052delGCC ENST00000392519.2 + 2 1043_1045 c.879_881delGCC c.(877-882)gtgccg>gtg p.P299del TMEM121_ENST00000431372.1_In_Frame_Del_p.P299del NM_025268.2 NP_079544.1 Q9BTD3 TM121_HUMAN transmembrane protein 121 299 Pro-rich. integral to membrane endometrium(2)|lung(1) 3 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.0959)|all cancers(159;0.235) GCAACTCGGTgccgccgccgccg 0.768 4 2 --- --- --- --- CTD-2245F17.3 0 broad.mit.edu 37 19 53703995 53703996 + RNA DEL TT TT - rs113703393 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:53703995_53703996delTT ENST00000597550.1 + 0 232 TGTTTCCCCCtttttttttttt 0.475 3 5 --- --- --- ---