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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut STK33 65975 broad.mit.edu 37 11 8435127 8435127 + Missense_Mutation SNP G T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr11:8435127G>T uc001mgi.1 - 10 2178 c.1259C>A c.(1258-1260)tCc>tAc p.S420Y STK33_uc001mgj.1_Missense_Mutation_p.S420Y|STK33_uc001mgk.1_Missense_Mutation_p.S420Y|STK33_uc010rbn.1_Missense_Mutation_p.S379Y|STK33_uc001mgl.3_Missense_Mutation_p.S233Y NM_030906 NP_112168 Q9BYT3 STK33_HUMAN Homo sapiens serine/threonine kinase 33 (STK33), mRNA. 420 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TTCTTCAGTGGACGGCTTATT 0.403000 54 16 1.52009e-12 2.77582e-12 0.003163 1 0 DGKG 1608 broad.mit.edu 37 3 185970917 185970917 + Missense_Mutation SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr3:185970917C>T uc003fqa.3 - 17 2102 c.1565G>A c.(1564-1566)gGa>gAa p.G522E DGKG_uc003fqb.3_Missense_Mutation_p.G483E|DGKG_uc003fqc.3_Missense_Mutation_p.G497E|DGKG_uc011brx.2_Missense_Mutation_p.G463E NM_001346 NP_001337 P49619 DGKG_HUMAN Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA. 522 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) AAGGTCATTTCCTGTTCCAAG 0.517000 58 17 0 0 0.001882 0 0 FRG1B 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G A A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr20:29628300G>A uc010ztl.1 + 2 244 c.212G>A c.(211-213)aGt>aAt p.S71N FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 31 5 0 0 0.001168 0 0 CNTN6 27255 broad.mit.edu 37 3 1414548 1414548 + Silent SNP G A A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr3:1414548G>A uc003boz.3 + 13 1962 c.1695G>A c.(1693-1695)agG>agA p.R565R CNTN6_uc011asj.2_Silent_p.R493R|CNTN6_uc003bpa.3_Silent_p.R565R NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN Homo sapiens contactin 6 (CNTN6), mRNA. 565 Ig-like C2-type 6. Notch signaling pathway|axon guidance|cell adhesion|central nervous system development anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TGATGATAAGGAATATTCAGT 0.373000 36 8 0 0 0.008291 0 0 IPO13 9670 broad.mit.edu 37 1 44432250 44432250 + Silent SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr1:44432250C>T uc001ckx.3 + 15 3196 c.2401C>T c.(2401-2403)Ctg>Ttg p.L801L IPO13_uc001cky.3_Silent_p.L19L NM_014652 NP_055467 O94829 IPO13_HUMAN Homo sapiens importin 13 (IPO13), mRNA. 801 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CCTGCAGGCTCTGAAGCGGAA 0.607000 63 21 0 0 0.002299 0 0 MTOR 2475 broad.mit.edu 37 1 11272938 11272938 + Missense_Mutation SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr1:11272938C>T uc001asd.3 - 21 3434 c.3313G>A c.(3313-3315)Gcc>Acc p.A1105T NM_004958 NP_004949 P42345 MTOR_HUMAN Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA. 1105 T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity p.A1105T(2) breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TCCAGGTTGGCGCCAAACAGC 0.512000 42 13 0 0 0.001368 0 0 TRMT61B 55006 broad.mit.edu 37 2 29092917 29092917 + Missense_Mutation SNP T G G TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr2:29092917T>G uc002rmm.3 - 0 259 c.227A>C c.(226-228)gAc>gCc p.D76A NM_017910 NP_060380 Q9BVS5 TR61B_HUMAN Homo sapiens tRNA methyltransferase 61 homolog B (S. cerevisiae) (TRMT61B), mRNA. 76 tRNA (adenine-N1-)-methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 13 AGTCCCAATGTCCGAGATGCT 0.587000 82 9 0 0 0.006214 0 0 FOSB 2354 broad.mit.edu 37 19 45974075 45974075 + Silent SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr19:45974075C>T uc002pbx.4 + 1 907 c.315C>T c.(313-315)tcC>tcT p.S105S ERCC1_uc002pbu.2_Intron|FOSB_uc002pbw.3_Silent_p.S105S|FOSB_uc010eka.1_Silent_p.S66S|FOSB_uc010ekb.1_Silent_p.S105S|FOSB_uc010ekc.1_Intron|FOSB_uc010ekd.1_Silent_p.S105S|FOSB_uc010eke.3_Silent_p.S66S|FOSB_uc002pby.4_Silent_p.S105S|FOSB_uc010ekf.3_Silent_p.S66S|FOSB_uc010ekg.3_Intron|FOSB_uc002pca.4_Silent_p.S56S NM_006732 NP_006723 P53539 FOSB_HUMAN Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA. 105 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) CCAGCTACTCCACACCAGGCA 0.682000 134 50 0 0 0.003610 0 0 LOC650623 650623 broad.mit.edu 37 10 81443120 81443120 + RNA SNP G A A rs141959862 by1000genomes TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr10:81443120G>A uc010qlu.2 + 0 c.390G>A Homo sapiens BEN domain containing 3 pseudogene (LOC650623), non-coding RNA. ACCCTCCCTCGGGGGACCTGC 0.557000 55 5 0 0 0.001168 0 0 FLJ00285 0 broad.mit.edu 37 16 15225056 15225056 + Silent SNP A G G rs118186179 by1000genomes TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr16:15225056A>G uc002ddh.2 - 0 512 c.120T>C c.(118-120)tcT>tcC p.S40S PDXDC1_uc002ddc.3_Intron|FLJ00285_uc010uzs.1_Non-coding_Transcript|FLJ00285_uc002ddi.3_5'UTR|FLJ00285_uc010uzt.2_Silent_p.S40S RecName: Full=GPS, PLAT and transmembrane domain-containing protein FLJ00285; CGGAGTTGGCAGAGCTGCGGT 0.677000 31 6 0 0 0.001984 0 0 COL23A1 91522 broad.mit.edu 37 5 177683870 177683870 + Silent SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr5:177683870C>T uc021yiz.1 - 13 1192 c.834G>A c.(832-834)ccG>ccA p.P278P COL23A1_uc021yiy.1_Silent_p.P54P|COL23A1_uc010jkt.2_Missense_Mutation_p.R126Q NM_173465 NP_775736 Q86Y22 CONA1_HUMAN Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA. 278 Collagen-like 2.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) ATGTCACCTTCGGTCCTGGGG 0.632000 15 10 0 0 0.008291 0 0 MYOM2 9172 broad.mit.edu 37 8 2021526 2021526 + Missense_Mutation SNP C A A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr8:2021526C>A uc003wpx.4 + 9 1204 c.1066C>A c.(1066-1068)Cgc>Agc p.R356S MYOM2_uc011kwi.2_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 356 Ig-like C2-type 2. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GTACACCCTGCGCATCGTGTC 0.617000 26 10 4.68919e-08 8.38068e-08 0.008291 1 0 TAOK2 9344 broad.mit.edu 37 16 29998819 29998819 + Missense_Mutation SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr16:29998819C>T uc010bzm.2 + 14 3282 c.3247C>T c.(3247-3249)Cgg>Tgg p.R1083W BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.R963W|TAOK2_uc002dva.2_Missense_Mutation_p.R1076W|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.R903W NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA. 1076 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GCAGGGCCCCCGGGTGCGCCG 0.701000 54 10 0 0 0.001368 0 0 TEX101 83639 broad.mit.edu 37 19 43922418 43922418 + Missense_Mutation SNP G A A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr19:43922418G>A uc002owk.3 + 8 1234 c.673G>A c.(673-675)Gaa>Aaa p.E225K TEX101_uc010xwo.2_Missense_Mutation_p.E207K NM_031451 NP_001123483 Q9BY14 TX101_HUMAN Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA. 207 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) GTTTGTGAGGGAAGCGTGCCC 0.527000 68 30 0 0 0.007291 0 0 MC5R 4161 broad.mit.edu 37 18 13826737 13826737 + Missense_Mutation SNP G A A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr18:13826737G>A uc010xaf.2 + 0 1195 c.973G>A c.(973-975)Gat>Aat p.D325N NM_005913 NP_005904 P33032 MC5R_HUMAN Homo sapiens melanocortin 5 receptor (MC5R), mRNA. 325 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TCCCAGAAGGGATTAAGCACA 0.522000 65 26 0 0 0.004656 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19419995 19419995 + RNA SNP C G G rs78291036 by1000genomes TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr13:19419995C>G uc010tcj.1 - 0 c.26115G>C Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. GAACTAAGAACAGTTAGATAA 0.294000 21 4 0 0 0.000248 0 0 AP1M1 8907 broad.mit.edu 37 19 16345234 16345235 + Missense_Mutation DNP CC TT TT TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr19:16345234_16345235CC>TT uc002ndv.2 + 12 1469_1470 c.1296_1297CC>TT c.(1294-1299)ctccgg>ctTTgg p.R433W AP1M1_uc002ndu.2_Missense_Mutation_p.R421W|AP1M1_uc010xpd.1_Missense_Mutation_p.R368W NM_001130524 NP_001123996 Q9BXS5 AP1M1_HUMAN Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA. 421 cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 ATTACCAGCTCCGGACCCAGTG 0.688000 38 12 0 0 0.004672 0 0 HHIP 64399 broad.mit.edu 37 4 145567871 145567871 + Missense_Mutation SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr4:145567871C>T uc003ijs.2 + 0 724 c.44C>T c.(43-45)gCt>gTt p.A15V LOC646576_uc003ijq.2_5'Flank|HHIP_uc003ijr.2_Missense_Mutation_p.A15V NM_022475 NP_071920 Q96QV1 HHIP_HUMAN Homo sapiens hedgehog interacting protein (HHIP), mRNA. 15 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) CTGGCCGTGGCTCTGGGCTTC 0.617000 OREG0016346 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 84 35 0 0 0.004289 0 0 LRP1B 53353 broad.mit.edu 37 2 141201982 141201982 + Missense_Mutation SNP G A A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr2:141201982G>A uc002tvj.1 - 64 11183 c.10211C>T c.(10210-10212)aCc>aTc p.T3404I NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 3404 LDL-receptor class A 23. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTGGTTCTTGGTACATTTGAA 0.383000 TSP Lung(27;0.18) 11 4 0 0 0.000248 0 0 CASKIN2 57513 broad.mit.edu 37 17 73497865 73497865 + Missense_Mutation SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr17:73497865C>T uc002joc.3 - 17 3840 c.3290G>A c.(3289-3291)gGa>gAa p.G1097E CASKIN2_uc010wsc.2_Missense_Mutation_p.G1015E NM_020753 NP_001136115 Q8WXE0 CSKI2_HUMAN Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA. 1097 Pro-rich. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTTACCTGCTCCGGGCACCTT 0.642000 94 40 0 0 0.002222 0 0 DCHS1 8642 broad.mit.edu 37 11 6654044 6654044 + Missense_Mutation SNP G A A rs150889229 TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr11:6654044G>A uc001mem.1 - 5 3100 c.2699C>T c.(2698-2700)aCg>aTg p.T900M NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA. 900 Cadherin 9. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAGCAATACCGTGTCTTCAGG 0.572000 29 4 0 0 0.000248 0 0 C15orf2 23742 broad.mit.edu 37 15 24924253 24924253 + Missense_Mutation SNP G A A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr15:24924253G>A uc001ywo.3 + 0 3713 c.3239G>A c.(3238-3240)gGa>gAa p.G1080E NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 1080 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCTGTATTTGGATATACTTCT 0.537000 79 17 0 0 0.008871 0 0 PPIL2 23759 broad.mit.edu 37 22 22049076 22049076 + Silent SNP C T T rs148599036 TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr22:22049076C>T uc010gtj.1 + 17 1418 c.1302C>T c.(1300-1302)ttC>ttT p.F434F PPIL2_uc002zvh.4_Silent_p.F434F|PPIL2_uc002zvi.4_Silent_p.F434F|PPIL2_uc002zvg.4_Silent_p.F434F|PPIL2_uc011aij.2_Silent_p.F413F|PPIL2_uc002zvk.4_Silent_p.F180F NM_148175 NP_680480 Q13356 PPIL2_HUMAN Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA. 434 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) CTACAGTGTTCGTGGACCCCT 0.647000 54 14 0 0 0.003163 0 0 GRB14 2888 broad.mit.edu 37 2 165383625 165383625 + Missense_Mutation SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr2:165383625C>T uc002ucl.3 - 3 1043 c.502G>A c.(502-504)Gaa>Aaa p.E168K GRB14_uc010zcv.2_Missense_Mutation_p.E81K NM_004490 NP_004481 Q14449 GRB14_HUMAN Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA. 168 Ras-associating. blood coagulation|leukocyte migration Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 ATCACCAGTTCGTGGTCTTCT 0.264000 20 8 0 0 0.006214 0 0 GOLGA6L5 374650 broad.mit.edu 37 15 85055683 85055683 + RNA SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr15:85055683C>T uc002bkm.2 - 5 c.877G>A Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA. CTCCTGTTCACGTAGCCTCTC 0.557000 8 3 0 0 0.000248 0 0 DCDC5 100506627 broad.mit.edu 37 11 31086649 31086649 + Missense_Mutation SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr11:31086649C>T uc009yjk.1 - 6 763 c.694G>A c.(694-696)Gat>Aat p.D232N DCDC5_uc009yjl.1_Missense_Mutation_p.D160N|DCDC5_uc001msu.2_Missense_Mutation_p.D403N NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 275 intracellular signal transduction NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1) 31 TGGGTCACATCTACTTGTGCA 0.438000 10 5 0 0 0.000602 0 0 SEMA5B 54437 broad.mit.edu 37 3 122629053 122629053 + Silent SNP G A A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr3:122629053G>A uc003efz.1 - 22 3697 c.3393C>T c.(3391-3393)ccC>ccT p.P1131P SEMA5B_uc011bju.1_Silent_p.P1037P|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003efy.1_Silent_p.P109P NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA. 1131 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GTTTGTTCAGGGGGCTTGGGT 0.542000 49 21 0 0 0.002299 0 0 VAV1 7409 broad.mit.edu 37 19 6821684 6821684 + Missense_Mutation SNP G A A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr19:6821684G>A uc002mfu.1 + 2 470 c.373G>A c.(373-375)Ggg>Agg p.G125R VAV1_uc010xjh.1_Missense_Mutation_p.G125R|VAV1_uc010dva.1_Missense_Mutation_p.G125R|VAV1_uc002mfv.1_Missense_Mutation_p.G70R NM_005428 NP_005419 P15498 VAV_HUMAN Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA. 125 T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CCAGAACAGGGGGATCATGTG 0.642000 50 9 0 0 0.000978 0 0 ZNF780B 163131 broad.mit.edu 37 19 40540452 40540452 + Nonsense_Mutation SNP G A A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr19:40540452G>A uc002omu.3 - 4 2379 c.2314C>T c.(2314-2316)Cag>Tag p.Q772* ZNF780B_uc002omv.3_Nonsense_Mutation_p.Q624* NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN Homo sapiens zinc finger protein 780B (ZNF780B), mRNA. 772 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGAATACTCTGAGGTTGAACA 0.418000 40 21 0 0 0.001882 0 0 MDH2 4191 broad.mit.edu 37 7 75694157 75694157 + Silent SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr7:75694157C>T uc003ueo.3 + 7 857 c.771C>T c.(769-771)cgC>cgT p.R257R MDH2_uc011kgh.2_Silent_p.R215R|MDH2_uc003uep.3_Silent_p.R150R NM_005918 NP_005909 P40926 MDHM_HUMAN Homo sapiens malate dehydrogenase 2, NAD (mitochondrial) (MDH2), nuclear gene encoding mitochondrial protein, mRNA. 257 gluconeogenesis|malate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus|plasma membrane L-malate dehydrogenase activity|binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2) 14 NADH(DB00157) CCGGCGCCCGCTTTGTCTTCT 0.572000 31 13 0 0 0.001855 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15582857 15582857 + Missense_Mutation SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr19:15582857C>T uc002nbg.3 - 2 1320 c.1187G>A c.(1186-1188)cGc>cAc p.R396H PGLYRP2_uc002nbf.4_Missense_Mutation_p.R396H NM_052890 NP_443122 Q96PD5 PGRP2_HUMAN Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA. 396 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 CAGCTTCGGGCGGCCCCGATA 0.657000 34 6 0 0 0.003080 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209191128 209191128 + Missense_Mutation SNP T G G TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr2:209191128T>G uc002vcz.3 + 19 3751 c.3593T>G c.(3592-3594)cTg>cGg p.L1198R PIKFYVE_uc010fun.1_Missense_Mutation_p.L879R|PIKFYVE_uc002vcy.1_Missense_Mutation_p.L1142R NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA. 1198 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 GGGCTTATTCTGAGTGATGCT 0.433000 13 4 0 0 0.000602 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89100816 89100816 + RNA SNP A G G rs148138279 by1000genomes TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr2:89100816A>G uc010fhg.3 + 12 c.1256A>G ANKRD36BP2_uc010fhh.3_Non-coding_Transcript|ANKRD36BP2_uc010fhi.1_Non-coding_Transcript Homo sapiens ankyrin repeat domain 36B pseudogene 2 (ANKRD36BP2), non-coding RNA. AGCAAGCAGAAAGAGAAGTAA 0.303000 8 3 0 0 0.000248 0 0 SF3B1 23451 broad.mit.edu 37 2 198267483 198267483 + Missense_Mutation SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr2:198267483C>T uc002uue.3 - 13 1922 c.1874G>A c.(1873-1875)cGt>cAt p.R625H NM_012433 NP_036565 O75533 SF3B1_HUMAN Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA. 625 nuclear mRNA splicing, via spliceosome U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck protein binding p.R625L(21)|p.R625?(9)|p.R625C(9)|p.R625P(4)|p.R625H(3)|p.R625G(1) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGTTGTGTTACGGACATACTC 0.438000 Mis myelodysplastic syndrome 26 9 0 0 0.004482 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A G G rs2257765 TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr10:38654432A>G uc010qex.1 + 4 599 c.524A>G c.(523-525)aAt>aGt p.N175S HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA. TCATCTCGCAATGCAAGGAAA 0.453000 18 3 0 0 0.004672 0 0 LOC650623 650623 broad.mit.edu 37 10 81443087 81443087 + RNA SNP C A A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr10:81443087C>A uc010qlu.2 + 0 c.357C>A Homo sapiens BEN domain containing 3 pseudogene (LOC650623), non-coding RNA. ATGGCATCTCCCACAAGGTCA 0.587000 66 5 7.48243e-07 1.30943e-06 0.006214 1 0 RARS 5917 broad.mit.edu 37 5 167943886 167943887 + Missense_Mutation DNP CC TT TT TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr5:167943886_167943887CC>TT uc003lzx.3 + 12 1597_1598 c.1556_1557CC>TT c.(1555-1557)tcc>tTT p.S519F RARS_uc011deo.2_Missense_Mutation_p.S313F NM_002887 NP_002878 P54136 SYRC_HUMAN Homo sapiens arginyl-tRNA synthetase (RARS), mRNA. 519 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|arginine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TACATCTTCTCCTTTGACAAAA 0.411000 76 31 0 0 0.004672 0 0 GNAQ 2776 broad.mit.edu 37 9 80409488 80409488 + Missense_Mutation SNP T G G rs121913492 TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr9:80409488T>G uc004akw.3 - 4 694 c.626A>C c.(625-627)cAa>cCa p.Q209P GNAQ_uc011lso.2_Missense_Mutation_p.Q7P NM_002072 NP_002063 P50148 GNAQ_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide (GNAQ), mRNA. 209 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity p.Q209L(208)|p.Q209P(206)|p.Q209R(4)|p.Q209Y(2)|p.Q209H(1)|p.Q209K(1) NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 CTCTGACCTTTGGCCCCCTAC 0.348000 Mis uveal melanoma 22 18 0 0 0.003330 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3674962 3674962 + Silent SNP G A A TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr20:3674962G>A uc002wja.3 - 11 3162 c.3162C>T c.(3160-3162)atC>atT p.I1054I SIGLEC1_uc002wiz.4_Silent_p.I1054I|SIGLEC1_uc002wjb.1_5'Flank NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 1054 Ig-like C2-type 10. 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 TAGCCCCGTGGATCTCCAGAC 0.627000 119 40 0 0 0.002522 0 0 CYP2B7P1 1556 broad.mit.edu 37 19 41430339 41430339 + Silent SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr19:41430339C>T uc010ehg.1 + 0 170 c.162C>T c.(160-162)tcC>tcT p.S54S CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Silent_p.S54S|CYP2B7P1_uc002opq.3_Non-coding_Transcript Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA. NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 TACTCAAATCCTTTCTGAGGG 0.562000 53 24 0 0 0.005443 0 0 HNRNPD 3184 broad.mit.edu 37 4 83277705 83277705 + Missense_Mutation SNP A G G TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr4:83277705A>G uc003hmm.1 - 6 1303 c.985T>C c.(985-987)Tat>Cat p.Y329H HNRNPD_uc003hml.1_Intron|HNRNPD_uc003hmn.1_Missense_Mutation_p.Y310H|HNRNPD_uc003hmo.1_Intron|HNRNPD_uc003hmp.1_Intron|HNRNPD_uc010ijr.1_Missense_Mutation_p.Y310H|HNRNPD_uc011cci.1_Missense_Mutation_p.Y175H NM_031370 NP_112738 Q14103 HNRPD_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) (HNRNPD), transcript variant 1, mRNA. 329 Gly-rich.|Tyr-rich. RNA catabolic process|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm RNA binding|nucleotide binding|protein binding|telomeric DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 7 TAATCACCATATCCATAGTAG 0.348000 33 13 0 0 0.003163 0 0 ACAD10 80724 broad.mit.edu 37 12 112153653 112153653 + Silent SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr12:112153653C>T uc009zvx.3 + 7 1172 c.972C>T c.(970-972)caC>caT p.H324H ACAD10_uc001tso.4_Intron|ACAD10_uc001tsp.3_Silent_p.H293H|ACAD10_uc001tsq.3_Silent_p.H293H|ACAD10_uc001tsr.3_Silent_p.H31H|ACAD10_uc001tss.1_Non-coding_Transcript NM_001136538 NP_001130010 Q6JQN1 ACD10_HUMAN Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA. 293 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 AGTTTGATCACGGGCAGTCAA 0.473000 109 33 0 0 0.002445 0 0 CLEC14A 161198 broad.mit.edu 37 14 38723898 38723898 + Missense_Mutation SNP C T T TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr14:38723898C>T uc001wum.1 - 0 1677 c.1330G>A c.(1330-1332)Gag>Aag p.E444K NM_175060 NP_778230 Q86T13 CLC14_HUMAN Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA. 444 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GGATCACTCTCCAGGCCCGGC 0.582000 49 21 0 0 0.001882 0 0 SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + In_Frame_Del DEL AGC - - rs76272937 TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr3:12046124_12046126delAGC uc003bwm.3 + 0 263_265 c.99_101delAGC c.(97-102)caagcg>cag p.A34del SYN2_uc003bwl.1_In_Frame_Del_p.A34del NM_133625 NP_598328 Q86VA8 Q86VA8_HUMAN Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA. 34 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 --- 4 --- --- 2 --- GJD4 219770 broad.mit.edu 37 10 35897462 35897462 + Frame_Shift_Del DEL C - - TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr10:35897462delC uc001iyy.1 + 1 1179 c.1021delC c.(1021-1023)cccfs p.P341fs NM_153368 NP_699199 Q96KN9 CXD4_HUMAN Homo sapiens gap junction protein, delta 4, 40.1kDa (GJD4), mRNA. 341 cell communication connexon complex|integral to membrane p.A340A(1) central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 CCTGGCCGCGCCCCCTTCCTG 0.706 --- 4 --- --- 2 --- GLYAT 10249 broad.mit.edu 37 11 58480294 58480295 + Frame_Shift_Ins INS - T T rs142339923 byFrequency TCGA-ER-A2NF-01A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0884fdf3-7a20-43bc-bf57-e71f36e11ab9 f0d22e58-5486-47c4-a316-e974e2bcbae6 g.chr11:58480294_58480295insT uc001nnb.3 - 3 409_410 c.254_255insA c.(253-255)aacfs p.N85fs GLYAT_uc001nnc.3_Frame_Shift_Ins_p.N85fs NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 85 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) ATTCCTGACAGTTTTGGGGATC 0.381 --- 4 --- --- 2 ---