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 KCNJ11 3767 broad.mit.edu 37 11 17408995 17408995 + Missense_Mutation SNP A A G TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr11:17408995A>G ENST00000339994.4 - 1 1211 c.644T>C c.(643-645)aTc>aCc p.I215T KCNJ11_ENST00000528731.1_Missense_Mutation_p.I128T NM_000525.3 NP_000516.3 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 11 128 integral to membrane ATP-activated inward rectifier potassium channel activity endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2) 16 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) CTGCATGTGGATGGTGGCGCT 0.637000 OREG0020810 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 50 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51466567 51466567 + Missense_Mutation SNP T T C TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr19:51466567T>C ENST00000376851.3 - 4 875 c.436A>G c.(436-438)Aca>Gca p.T146A KLK6_ENST00000376853.4_Intron|KLK6_ENST00000456750.2_Missense_Mutation_p.T39A|KLK6_ENST00000391808.1_Missense_Mutation_p.T39A|KLK6_ENST00000594641.1_Missense_Mutation_p.T146A|KLK6_ENST00000310157.2_Missense_Mutation_p.T146A|CTB-147C22.8_ENST00000601506.1_RNA NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 146 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) CCATCTGCTGTCTTGCCCCAG 0.612000 20 94 0 0 1 0 0 ZNF610 162963 broad.mit.edu 37 19 52869101 52869101 + Missense_Mutation SNP A A G TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr19:52869101A>G ENST00000601151.1 + 5 793 c.341A>G c.(340-342)cAt>cGt p.H114R ZNF610_ENST00000327920.8_Missense_Mutation_p.H157R|ZNF610_ENST00000403906.3_Missense_Mutation_p.H157R|ZNF610_ENST00000321287.8_Missense_Mutation_p.H157R NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) TTTACAAACCATCGTTCCTCA 0.343000 31 125 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42144411 42144411 + Missense_Mutation SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr15:42144411C>T ENST00000320955.6 - 62 10780 c.10553G>A c.(10552-10554)gGa>gAa p.G3518E NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 3518 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CAGCTGTGCTCCTAGCCCCTG 0.672000 10 26 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105915092 105915092 + Silent SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr2:105915092C>T ENST00000393359.2 - 3 1185 c.759G>A c.(757-759)gcG>gcA p.A253A TGFBRAP1_ENST00000258449.1_Silent_p.A253A Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 253 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 AGGACACAGCCGCCCCAATCA 0.537000 22 78 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38958446 38958446 + Silent SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr19:38958446G>A ENST00000355481.4 + 25 3506 c.3375G>A c.(3373-3375)ggG>ggA p.G1125G RYR1_ENST00000360985.3_Silent_p.G1125G|RYR1_ENST00000359596.3_Silent_p.G1125G NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1125 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCTTCAATGGGCACCGCGTGG 0.627000 17 63 0 0 1 0 0 LARGE 9215 broad.mit.edu 37 22 34000498 34000498 + Nonsense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr22:34000498G>A ENST00000354992.2 - 6 1109 c.538C>T c.(538-540)Cag>Tag p.Q180* LARGE_ENST00000397394.2_Nonsense_Mutation_p.Q180*|LARGE_ENST00000437602.2_Nonsense_Mutation_p.Q180*|LARGE_ENST00000402320.1_Nonsense_Mutation_p.Q180*|LARGE_ENST00000337431.2_Nonsense_Mutation_p.Q180* NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 180 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) GCCAGGATCTGCTCCGCAATG 0.572000 25 60 0 0 1 0 0 ZAK 51776 broad.mit.edu 37 2 174123463 174123463 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr2:174123463G>A ENST00000375213.3 + 17 1474 c.1396G>A c.(1396-1398)Gat>Aat p.D466N MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.D466N NM_016653.2 NP_057737.2 GATGGATGGGGATGAAATTGC 0.323000 6 13 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 379542 379542 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr11:379542G>A ENST00000329962.6 + 15 2329 c.2329G>A c.(2329-2331)Gtc>Atc p.V777I NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 777 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTCCGAGTACGTCTTCCTGCG 0.736000 3 12 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128492930 128492930 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr7:128492930G>A ENST00000325888.8 + 37 6314 c.6053G>A c.(6052-6054)cGc>cAc p.R2018H RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R1985H NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2018 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GTGAGCGTGCGCAAGAGTGGC 0.637000 4 96 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135496331 135496331 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chrX:135496331G>A ENST00000394143.1 + 25 9341 c.9050G>A c.(9049-9051)cGg>cAg p.R3017Q GPR112_ENST00000287534.4_Missense_Mutation_p.R2736Q|GPR112_ENST00000412101.1_Missense_Mutation_p.R2812Q|GPR112_ENST00000394141.1_Missense_Mutation_p.R2812Q|GPR112_ENST00000370652.1_Missense_Mutation_p.R3017Q NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 3017 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GGGAGCAGCCGGTGTCAGATA 0.353000 30 171 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123275098 123275098 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr4:123275098G>A ENST00000264501.4 + 82 14604 c.14231G>A c.(14230-14232)cGc>cAc p.R4744H KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4744H Q2LD37 K1109_HUMAN KIAA1109 4744 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 ACAAGGCGTCGCCATGAAAAT 0.398000 13 50 0 0 1 0 0 FABP12 646486 broad.mit.edu 37 8 82437355 82437355 + Splice_Site SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr8:82437355C>T ENST00000360464.4 - 4 411 c.348_splice c.e4-1 p.E117_splice RP11-257P3.3_ENST00000523380.1_RNA|RP11-257P3.3_ENST00000518637.1_RNA NM_001105281.1 NP_001098751.1 A6NFH5 FBP12_HUMAN fatty acid binding protein 12 117 lipid binding|transporter activity large_intestine(1)|lung(3) 4 ACAGTACTTTCCTACAAGACA 0.333000 3 6 0 0 1 0 0 KLHL34 257240 broad.mit.edu 37 X 21675044 21675044 + Missense_Mutation SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chrX:21675044C>T ENST00000379499.2 - 1 1404 c.863G>A c.(862-864)cGc>cAc p.R288H NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 288 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 CCGTGCCCTGCGCCCCCCCAC 0.697000 3 29 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15696908 15696908 + Splice_Site SNP T T C TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr2:15696908T>C ENST00000281513.5 - 3 233 c.209_splice c.e3+1 p.S70_splice NBAS_ENST00000441750.1_Splice_Site_p.S70_splice NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 70 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 AAGACTCACCTGTACCAGATG 0.284000 50 13 0 0 1 0 0 TRAM1 23471 broad.mit.edu 37 8 71495489 71495489 + Nonsense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr8:71495489G>A ENST00000521425.1 - 10 1739 c.703C>T c.(703-705)Cga>Tga p.R235* TRAM1_ENST00000536748.1_Nonsense_Mutation_p.R290*|TRAM1_ENST00000262213.2_Nonsense_Mutation_p.R321* Q15629 TRAM1_HUMAN translocation associated membrane protein 1 321 TLC. cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 17 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) CTCCACCTTCGAAGCTGAAAA 0.378000 8 33 0 0 1 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49376951 49376951 + Missense_Mutation SNP C C A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr19:49376951C>A ENST00000200453.5 + 2 730 c.461C>A c.(460-462)tCt>tAt p.S154Y NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 154 Required for localization in the endoplasmic reticulum. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) CTGCAAGGTTCTGATAAGAAC 0.542000 4 121 0.150653 0.150653 1 1 0 COIL 8161 broad.mit.edu 37 17 55027784 55027784 + Missense_Mutation SNP C C A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr17:55027784C>A ENST00000240316.4 - 2 853 c.819G>T c.(817-819)gaG>gaT p.E273D NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 273 Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) TTGGTAATTTCTCTGAGGAAT 0.443000 30 105 3.65163e-15 3.97383e-15 1 1 0 FHL1 2273 broad.mit.edu 37 X 135288733 135288733 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chrX:135288733G>A ENST00000543669.1 + 2 853 c.142G>A c.(142-144)Ggt>Agt p.G48S FHL1_ENST00000345434.3_Missense_Mutation_p.G48S|FHL1_ENST00000535737.1_Missense_Mutation_p.G48S|FHL1_ENST00000394155.2_Missense_Mutation_p.G48S|FHL1_ENST00000394153.2_Missense_Mutation_p.G48S|FHL1_ENST00000370676.3_Missense_Mutation_p.G64S|FHL1_ENST00000539015.1_Missense_Mutation_p.G77S|FHL1_ENST00000370683.1_Missense_Mutation_p.G64S|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000370690.3_Missense_Mutation_p.G48S NM_001159704.1 NP_001153176.1 Q13642 FHL1_HUMAN four and a half LIM domains 1 48 LIM zinc-binding 1. cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding p.G48S(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(192;0.000127) CAAGCCCATCGGTGCGGACTC 0.562000 61 276 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61987983 61987983 + Silent SNP G G T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr13:61987983G>T ENST00000409186.1 - 5 2354 c.249C>A c.(247-249)ggC>ggA p.G83G PCDH20_ENST00000409204.4_Silent_p.G83G Q8N6Y1 PCD20_HUMAN protocadherin 20 56 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CGGCCAGGCTGCCGATGAGCA 0.687000 5 23 1.23904e-05 1.26177e-05 1 1 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 6 98 0 0 1 0 0 LUZP1 7798 broad.mit.edu 37 1 23418370 23418370 + Silent SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr1:23418370G>A ENST00000302291.4 - 4 3186 c.2385C>T c.(2383-2385)agC>agT p.S795S LUZP1_ENST00000374623.3_Silent_p.S795S|LUZP1_ENST00000418342.1_Silent_p.S795S|LUZP1_ENST00000314174.5_Silent_p.S795S Q86V48 LUZP1_HUMAN leucine zipper protein 1 795 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) ATATAGTAATGCTACTTGTCA 0.507000 15 46 0 0 1 0 0 HEATR5A 25938 broad.mit.edu 37 14 31792926 31792926 + Missense_Mutation SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr14:31792926C>T ENST00000543095.2 - 24 3816 c.3632G>A c.(3631-3633)cGt>cAt p.R1211H HEATR5A_ENST00000439727.1_Missense_Mutation_p.R918H|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1205H|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R1205H NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1205 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) TTTTTCATCACGTCTGGTGGT 0.413000 18 60 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44865722 44865722 + Silent SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr15:44865722G>A ENST00000558319.1 - 32 6258 c.6228C>T c.(6226-6228)tcC>tcT p.S2076S SPG11_ENST00000535302.2_Intron|SPG11_ENST00000261866.7_Intron|SPG11_ENST00000427534.2_Intron Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 0 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) AGAGAGGTTGGGAATCCCCGG 0.502000 4 27 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106844589 106844589 + Missense_Mutation SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chrX:106844589C>T ENST00000276185.4 + 16 3419 c.3419C>T c.(3418-3420)gCg>gTg p.A1140V Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1140 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 GGGGAGAAGGCGCAGCTGGAG 0.632000 9 61 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114515704 114515704 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr1:114515704G>A ENST00000369558.1 + 16 3435 c.3203G>A c.(3202-3204)cGc>cAc p.R1068H HIPK1_ENST00000369555.2_Missense_Mutation_p.R1023H|HIPK1_ENST00000369553.1_Missense_Mutation_p.R674H|HIPK1_ENST00000369554.2_Missense_Mutation_p.R1023H|HIPK1_ENST00000426820.2_Missense_Mutation_p.R1068H|HIPK1_ENST00000369561.4_Missense_Mutation_p.R1034H|HIPK1_ENST00000340480.4_Missense_Mutation_p.R694H|HIPK1_ENST00000406344.1_Missense_Mutation_p.R674H Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 1068 Interaction with TP53. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCAGCCCCCCGCAGGCAGCAG 0.627000 5 269 0 0 1 0 0 GPCPD1 56261 broad.mit.edu 37 20 5528493 5528493 + Silent SNP T T G TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr20:5528493T>G ENST00000379019.4 - 20 2045 c.1833A>C c.(1831-1833)atA>atC p.I611I GPCPD1_ENST00000481038.1_5'UTR NM_019593.3 NP_062539.1 Q9NPB8 GPCP1_HUMAN glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) 611 GDPD. glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1) 16 TCCAATCATATATCCTATGAT 0.373000 28 169 0 0 1 0 0 NPHP4 261734 broad.mit.edu 37 1 5950982 5950982 + Silent SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr1:5950982G>A ENST00000378156.4 - 17 2515 c.2250C>T c.(2248-2250)gaC>gaT p.D750D NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 750 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) CGTCCCAGACGTCAATCTGCA 0.637000 3 27 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155240608 155240608 + Missense_Mutation SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr1:155240608C>T ENST00000368361.4 - 2 476 c.161G>A c.(160-162)cGt>cAt p.R54H CLK2_ENST00000361168.5_Missense_Mutation_p.R54H|CLK2_ENST00000355560.4_Missense_Mutation_p.R54H|CLK2_ENST00000536801.1_Missense_Mutation_p.R54H P49760 CLK2_HUMAN CDC-like kinase 2 54 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCTTCGAGAACGGACATGGTA 0.498000 Other conserved DNA damage response genes 33 129 0 0 1 0 0 SMAD5 4090 broad.mit.edu 37 5 135508250 135508250 + Silent SNP T T C TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr5:135508250T>C ENST00000545279.1 + 6 1263 c.903T>C c.(901-903)gaT>gaC p.D301D SMAD5_ENST00000545620.1_Silent_p.D301D|SMAD5_ENST00000514641.2_3'UTR NM_001001419.1|NM_005903.5 NP_001001419.1|NP_005894.3 Q99717 SMAD5_HUMAN SMAD family member 5 301 MH2. BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding central_nervous_system(1)|large_intestine(4)|lung(3) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GATTCACAGATCCTTCAAATA 0.343000 18 79 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44248010 44248010 + Missense_Mutation SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr6:44248010C>T ENST00000371505.4 - 5 1536 c.1414G>A c.(1414-1416)Gca>Aca p.A472T TCTE1_ENST00000371504.1_Missense_Mutation_p.A169T|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Missense_Mutation_p.A169T NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 472 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCTCGGTTTGCGTAGAGGGCC 0.557000 4 146 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 6 103 0 0 1 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789497 6789497 + Missense_Mutation SNP T T C TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr11:6789497T>C ENST00000338569.2 - 1 789 c.692A>G c.(691-693)aAt>aGt p.N231S NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CCTCCCCTCATTTGATGGCAT 0.493000 12 49 0 0 1 0 0 ZHX3 23051 broad.mit.edu 37 20 39831887 39831887 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr20:39831887G>A ENST00000309060.3 - 4 2085 c.1670C>T c.(1669-1671)gCg>gTg p.A557V ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.A557V|ZHX3_ENST00000559234.1_Missense_Mutation_p.A557V|ZHX3_ENST00000432768.2_Missense_Mutation_p.A557V|ZHX3_ENST00000540170.1_Missense_Mutation_p.A557V|ZHX3_ENST00000560361.1_Missense_Mutation_p.A557V Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 557 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) AGGTATCATCGCTCTGGAGCC 0.522000 24 130 0 0 1 0 0 PIK3R3 8503 broad.mit.edu 37 1 46521491 46521491 + Missense_Mutation SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr1:46521491C>T ENST00000262741.5 - 7 1606 c.917G>A c.(916-918)cGa>cAa p.R306Q PIK3R3_ENST00000540385.1_Missense_Mutation_p.R352Q|PIK3R3_ENST00000423209.1_Intron|PIK3R3_ENST00000420542.1_Missense_Mutation_p.R306Q|PIK3R3_ENST00000372006.1_Missense_Mutation_p.R306Q|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000488808.1_5'UTR NM_003629.3 NP_003620.3 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 306 insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding p.R306Q(1) endometrium(1)|large_intestine(5)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(166;0.155) TCGGATCTTTCGCAGCTGGAT 0.453000 4 159 0 0 1 0 0 OR6B2 389090 broad.mit.edu 37 2 240969703 240969703 + Silent SNP G G A rs142836659 by1000genomes TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr2:240969703G>A ENST00000402971.2 - 1 203 c.144C>T c.(142-144)atC>atT p.I48I NM_001005853.1 NP_001005853.1 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, member 2 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) TGCTCCAGACGATGAGGATGA 0.582000 61 88 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87037495 87037495 + Missense_Mutation SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr7:87037495C>T ENST00000265723.4 - 25 3248 c.3137G>A c.(3136-3138)cGa>cAa p.R1046Q ABCB4_ENST00000359206.3_Missense_Mutation_p.R1046Q|ABCB4_ENST00000358400.3_Missense_Mutation_p.R999Q|ABCB4_ENST00000545634.1_Missense_Mutation_p.R1046Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.R999Q NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 1046 ABC transporter 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CACGTTTGCTCGGGTGGGATA 0.458000 14 56 0 0 1 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243449654 243449654 + Missense_Mutation SNP A A C TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr1:243449654A>C ENST00000366541.3 + 5 619 c.501A>C c.(499-501)caA>caC p.Q167H SDCCAG8_ENST00000343783.6_Missense_Mutation_p.Q22H|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.Q167H|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.Q167H NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 167 establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TAAAATCTCAAAGACAAGAGG 0.358000 17 61 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64401688 64401688 + Missense_Mutation SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr6:64401688C>T ENST00000262043.3 + 5 2591 c.2251C>T c.(2251-2253)Ctt>Ttt p.L751F PHF3_ENST00000393387.1_Missense_Mutation_p.L751F Q92576 PHF3_HUMAN PHD finger protein 3 751 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TGGGTTAAGTCTTTCTCAAGC 0.393000 34 142 0 0 1 0 0 CXCL12 6387 broad.mit.edu 37 10 44871427 44871427 + Missense_Mutation SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr10:44871427C>T ENST00000374426.2 - 4 357 c.320G>A c.(319-321)cGa>cAa p.R107Q CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron NM_001033886.2 NP_001029058.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 0 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) CTTCTTCTGTCGCTTCTTTTT 0.393000 4 100 0 0 1 0 0 ZBTB22 9278 broad.mit.edu 37 6 33282955 33282955 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr6:33282955G>A ENST00000431845.2 - 2 1890 c.1739C>T c.(1738-1740)aCt>aTt p.T580I ZBTB22_ENST00000418724.1_Missense_Mutation_p.T580I NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 580 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CCCCGTGGGAGTCCCAGGCCC 0.706000 43 19 0 0 1 0 0 ZNF365 22891 broad.mit.edu 37 10 64159482 64159482 + Silent SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr10:64159482C>T ENST00000395254.3 + 5 1438 c.1158C>T c.(1156-1158)ggC>ggT p.G386G ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 p.G386G(2) breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) TGGGGTTTGGCCGCAAAGGCA 0.537000 4 186 0 0 1 0 0 SCMH1 22955 broad.mit.edu 37 1 41514481 41514481 + Missense_Mutation SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr1:41514481C>T ENST00000402904.2 - 11 1525 c.1157G>A c.(1156-1158)gGa>gAa p.G386E SCMH1_ENST00000456518.2_Missense_Mutation_p.G228E|SCMH1_ENST00000397171.2_Missense_Mutation_p.G325E|SCMH1_ENST00000397174.2_Missense_Mutation_p.G366E|SCMH1_ENST00000372595.1_Missense_Mutation_p.G325E|SCMH1_ENST00000372596.1_Missense_Mutation_p.G325E|SCMH1_ENST00000372597.1_Missense_Mutation_p.G339E|SCMH1_ENST00000361705.3_Missense_Mutation_p.G339E|SCMH1_ENST00000361191.5_Missense_Mutation_p.G325E|SCMH1_ENST00000337495.5_Missense_Mutation_p.G396E|SCMH1_ENST00000326197.7_Missense_Mutation_p.G386E NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 386 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) ACGGGCTGGTCCAAAATGGTC 0.507000 44 164 0 0 1 0 0 GAS2L3 283431 broad.mit.edu 37 12 101017504 101017504 + Silent SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr12:101017504G>A ENST00000537247.1 + 10 1563 c.609G>A c.(607-609)tcG>tcA p.S203S GAS2L3_ENST00000539410.1_Silent_p.S307S|GAS2L3_ENST00000547754.1_Silent_p.S307S|GAS2L3_ENST00000266754.5_Silent_p.S307S Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 307 cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 TACCTGATTCGCCTGCCAGAA 0.378000 19 59 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430085 43430085 + RNA SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr19:43430085C>T ENST00000406070.2 - 0 1179 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) AATACTGTGCCGGTGGGTTAG 0.463000 61 311 0 0 1 0 0 ZNF512B 57473 broad.mit.edu 37 20 62599268 62599268 + Silent SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr20:62599268G>A ENST00000450537.1 - 2 96 c.36C>T c.(34-36)ctC>ctT p.L12L ZNF512B_ENST00000217130.3_Silent_p.L12L|ZNF512B_ENST00000369888.1_Silent_p.L12L Q96KM6 Z512B_HUMAN zinc finger protein 512B 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L12L(1) NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TGGACCCCGGGAGCCGACGGC 0.597000 56 79 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 100990290 100990290 + Missense_Mutation SNP C C A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr8:100990290C>A ENST00000360863.6 - 23 3568 c.3374G>T c.(3373-3375)gGg>gTg p.G1125V RGS22_ENST00000523437.1_Missense_Mutation_p.G1113V|RGS22_ENST00000523287.1_Missense_Mutation_p.G944V NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1125 RGS 2. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.G1125V(2) RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AAACAGAACCCCAAAAATTGT 0.269000 6 19 8.12818e-05 8.20208e-05 1 1 0 ZNF792 126375 broad.mit.edu 37 19 35450454 35450454 + Missense_Mutation SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr19:35450454C>T ENST00000404801.1 - 4 691 c.305G>A c.(304-306)gGc>gAc p.G102D ZNF792_ENST00000605484.1_Missense_Mutation_p.G35D NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TAAGTCCTTGCCCTCTGTTCC 0.498000 15 64 0 0 1 0 0 GIMAP5 55340 broad.mit.edu 37 7 150440107 150440107 + Missense_Mutation SNP A A G TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr7:150440107A>G ENST00000358647.3 + 3 1247 c.880A>G c.(880-882)Ata>Gta p.I294V GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTTGTGCAGCATACTTTTTTT 0.378000 9 50 0 0 1 0 0 SLC35F1 222553 broad.mit.edu 37 6 118596639 118596639 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr6:118596639G>A ENST00000360388.4 + 5 856 c.655G>A c.(655-657)Ggg>Agg p.G219R NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 219 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TAAGCTGGTAGGGGACCTTCT 0.448000 14 40 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36615501 36615501 + Missense_Mutation SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr11:36615501C>T ENST00000311485.3 - 2 379 c.218G>A c.(217-219)cGc>cAc p.R73H NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 73 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) GGCTGGGTAGCGAAGAGGAGG 0.453000 Familial Hemophagocytic Lymphohistiocytosis 46 86 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124728587 124728587 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr3:124728587G>A ENST00000311127.4 - 8 3222 c.3155C>T c.(3154-3156)cCg>cTg p.P1052L NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 1052 EGF-like 2; calcium-binding (Potential). extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 GTACCCAACCGGGCATTTGCA 0.428000 12 29 0 0 1 0 0 NAA11 84779 broad.mit.edu 37 4 80246587 80246587 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr4:80246587G>A ENST00000286794.4 - 1 617 c.445C>T c.(445-447)Cgg>Tgg p.R149W NAA11_ENST00000513733.1_5'UTR NM_032693.2 NP_116082.1 Q9BSU3 NAA11_HUMAN N(alpha)-acetyltransferase 11, NatA catalytic subunit 149 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding p.R149W(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 GAGAGATCCCGCTTCATAGCA 0.527000 15 48 0 0 1 0 0 LGALS12 85329 broad.mit.edu 37 11 63277960 63277960 + Missense_Mutation SNP A A G TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr11:63277960A>G ENST00000415491.2 + 4 1015 c.401A>G c.(400-402)tAc>tGc p.Y134C LGALS12_ENST00000255684.5_Missense_Mutation_p.Y195C|LGALS12_ENST00000340246.5_Missense_Mutation_p.Y196C|LGALS12_ENST00000394618.3_Missense_Mutation_p.Y195C|LGALS12_ENST00000425950.2_Missense_Mutation_p.Y134C NM_001142537.1 NP_001136009.1 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 195 Galectin 1. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 AGCAGAGAGTACCCAGCTGGA 0.557000 11 66 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117768559 117768559 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr12:117768559G>A ENST00000317775.6 - 2 1001 c.316C>T c.(316-318)Cac>Tac p.H106Y NOS1_ENST00000338101.4_Missense_Mutation_p.H106Y|NOS1_ENST00000344089.3_Missense_Mutation_p.H106Y NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 106 Interaction with NOSIP (By similarity). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GTCTCCAGGTGCGTGGTGAAA 0.622000 15 44 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1266021 1266021 + Silent SNP C C A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr11:1266021C>A ENST00000447027.1 + 31 7978 c.7920C>A c.(7918-7920)acC>acA p.T2640T RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T2637T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2637 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCAGCACAACCACCACACCCA 0.632000 51 87 1.86277e-20 2.06767e-20 1 1 0 GABRE 2564 broad.mit.edu 37 X 151129820 151129820 + Missense_Mutation SNP C C G TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chrX:151129820C>G ENST00000370325.1 - 5 634 c.581G>C c.(580-582)gGa>gCa p.G194A GABRE_ENST00000393914.3_Intron|GABRE_ENST00000370328.3_Missense_Mutation_p.G194A P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 194 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GAGTGAGCATCCGGCATCAAT 0.507000 29 121 0 0 1 0 0 CHST12 55501 broad.mit.edu 37 7 2472569 2472569 + Nonsense_Mutation SNP G G T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr7:2472569G>T ENST00000258711.6 + 2 430 c.295G>T c.(295-297)Gag>Tag p.E99* NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 99 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) GAGCATGGAGGAGAGCGTGAG 0.682000 29 121 1.1904e-30 1.3347e-30 1 1 0 PCLO 27445 broad.mit.edu 37 7 82544172 82544172 + Missense_Mutation SNP G G T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr7:82544172G>T ENST00000423517.2 - 7 13467 c.13130C>A c.(13129-13131)gCa>gAa p.A4377E PCLO_ENST00000333891.8_Missense_Mutation_p.A4377E|PCLO_ENST00000437081.1_Missense_Mutation_p.A1097E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4308 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 GGGTCCAGCTGCAGCCCTGGC 0.507000 14 68 3.27435e-08 3.49474e-08 1 1 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 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) 46 26 0 0 1 0 0 TARS2 80222 broad.mit.edu 37 1 150460440 150460440 + Missense_Mutation SNP C C G TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr1:150460440C>G ENST00000369064.3 + 2 207 c.173C>G c.(172-174)cCc>cGc p.P58R TARS2_ENST00000438568.2_Missense_Mutation_p.P58R|TARS2_ENST00000606933.1_Missense_Mutation_p.P58R|TARS2_ENST00000369054.2_Missense_Mutation_p.P58R NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 58 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CAGAAGGAACCCCGGACTATT 0.547000 19 60 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 65 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11288886 11288886 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr1:11288886G>A ENST00000361445.4 - 19 2945 c.2869C>T c.(2869-2871)Cgg>Tgg p.R957W NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 957 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|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity 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 CGGAAGATCCGCATCAGGGCC 0.502000 4 135 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141665476 141665476 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr2:141665476G>A ENST00000389484.3 - 22 4461 c.3490C>T c.(3490-3492)Cct>Tct p.P1164S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1164 LDL-receptor class A 10. 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) GAGCCATCAGGACAATCCTTT 0.438000 TSP Lung(27;0.18) 40 173 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41088843 41088843 + Silent SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chrX:41088843G>A ENST00000324545.7 + 43 7875 c.7242G>A c.(7240-7242)aaG>aaA p.K2414K USP9X_ENST00000378308.2_Silent_p.K2414K NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 2414 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TTAAAAGAAAGTGGACCTGGG 0.393000 14 53 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12409370 12409370 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr1:12409370G>A ENST00000358136.3 + 46 9500 c.9370G>A c.(9370-9372)Gaa>Aaa p.E3124K VPS13D_ENST00000356315.4_Missense_Mutation_p.E3099K NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3123 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GAAGACTGCAGAAATTAGTAG 0.458000 28 143 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 7 63 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43411250 43411250 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr19:43411250G>A ENST00000187910.2 - 5 1129 c.1064C>T c.(1063-1065)gCg>gTg p.A355V PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) GTTAGAGTCCGCAAAGCAGGA 0.448000 5 453 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81528729 81528729 + Silent SNP C C G TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr12:81528729C>G ENST00000548058.1 + 3 1501 c.591C>G c.(589-591)ctC>ctG p.L197L ACSS3_ENST00000261206.3_Silent_p.L196L Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 197 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TCCACAGTCTCATATTTGGAG 0.403000 13 36 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887326 12887326 + Missense_Mutation SNP T T C TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr1:12887326T>C ENST00000535591.1 - 3 726 c.531A>G c.(529-531)atA>atG p.I177M NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 177 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGATGGGCAGTATCCACTTGC 0.488000 111 486 0 0 1 0 0 CD300E 342510 broad.mit.edu 37 17 72613477 72613477 + Silent SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr17:72613477C>T ENST00000392619.1 - 2 284 c.249G>A c.(247-249)acG>acA p.T83T CD300E_ENST00000328630.3_Silent_p.T56T|CD300E_ENST00000426295.2_Silent_p.T97T NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 56 Ig-like V-type. integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 TCTCACATGACGTGTCGTACT 0.552000 19 80 0 0 1 0 0 FAM196A 642938 broad.mit.edu 37 10 128973711 128973711 + Missense_Mutation SNP C C T rs143223796 TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr10:128973711C>T ENST00000522781.1 - 4 1504 c.949G>A c.(949-951)Gaa>Aaa p.E317K DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.E317K NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 317 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TCACTACATTCGGGGGACAGG 0.647000 24 69 0 0 1 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841485 8841485 + Missense_Mutation SNP C C A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr19:8841485C>A ENST00000324060.2 + 1 170 c.95C>A c.(94-96)gCt>gAt p.A32D NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCCCTGGTGGCTGTCATGTTT 0.542000 20 77 3.51602e-12 3.78911e-12 1 1 0 SLFN13 146857 broad.mit.edu 37 17 33771991 33771991 + Missense_Mutation SNP A A C TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr17:33771991A>C ENST00000285013.6 - 3 984 c.709T>G c.(709-711)Ttt>Gtt p.F237V SLFN13_ENST00000542635.1_Missense_Mutation_p.F237V|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.F237V|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000526861.1_Missense_Mutation_p.F237V NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 237 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GTGTTTGCAAATGCAGAGATG 0.388000 28 116 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23803958 23803958 + Missense_Mutation SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr4:23803958C>T ENST00000264867.2 - 11 2149 c.2030G>A c.(2029-2031)cGt>cAt p.R677H PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 677 RRM. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) ATAAATCACACGGCGCTCTTC 0.507000 23 84 0 0 1 0 0 VASH1 22846 broad.mit.edu 37 14 77236375 77236375 + Missense_Mutation SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr14:77236375C>T ENST00000167106.4 + 2 1012 c.379C>T c.(379-381)Cgc>Tgc p.R127C VASH1_ENST00000554237.1_Missense_Mutation_p.R127C|VASH1_ENST00000556038.1_3'UTR NM_014909.4 NP_055724.1 Q7L8A9 VASH1_HUMAN vasohibin 1 127 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3) 10 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) AGCTGTGCAGCGCTACATCAG 0.592000 24 86 0 0 1 0 0 AGAP2 116986 broad.mit.edu 37 12 58124354 58124354 + Silent SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr12:58124354G>A ENST00000257897.3 - 12 1429 c.1344C>T c.(1342-1344)tcC>tcT p.S448S AGAP2_ENST00000547588.1_Silent_p.S784S NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 784 G domain. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 GTGGCTGCAGGGAACTGGGGC 0.572000 37 144 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138604075 138604075 + Silent SNP G G A rs148061561 by1000genomes TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr7:138604075G>A ENST00000440172.1 - 2 345 c.297C>T c.(295-297)ccC>ccT p.P99P KIAA1549_ENST00000422774.1_Silent_p.P99P|KIAA1549_ENST00000242365.4_Silent_p.P49P NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 99 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GCTGGGAGCCGGGAGCAGTTT 0.517000 O BRAF pilocytic astrocytoma 4 104 0 0 1 0 0 TMEFF2 23671 broad.mit.edu 37 2 193044385 193044385 + Missense_Mutation SNP A A G TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr2:193044385A>G ENST00000409056.3 - 4 447 c.448T>C c.(448-450)Tgc>Cgc p.C150R TMEFF2_ENST00000392314.1_Intron|TMEFF2_ENST00000272771.5_Intron Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 0 extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) GTAAAAAGGCAACTCCTACCT 0.299000 12 30 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 9 62 0 0 1 0 0 RECK 8434 broad.mit.edu 37 9 36121659 36121659 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr9:36121659G>A ENST00000377966.3 + 20 3234 c.2668G>A c.(2668-2670)Gtc>Atc p.V890I NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 890 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) GATCATTCCCGTCGATCACTA 0.458000 33 132 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229463 140229463 + Silent SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr5:140229463G>A ENST00000378122.3 + 1 2107 c.1383G>A c.(1381-1383)acG>acA p.T461T PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.T461T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGAGTACACGGTGTTCGTGA 0.667000 42 139 0 0 1 0 0 FTCD 10841 broad.mit.edu 37 21 47571600 47571600 + Missense_Mutation SNP T T G TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr21:47571600T>G ENST00000397748.1 - 5 551 c.508A>C c.(508-510)Agt>Cgt p.S170R FTCD_ENST00000291670.5_Missense_Mutation_p.S170R|FTCD_ENST00000359679.2_Missense_Mutation_p.S170R|FTCD_ENST00000397743.1_Missense_Mutation_p.S170R|FTCD_ENST00000355384.2_Missense_Mutation_p.S170R|FTCD_ENST00000498355.2_5'UTR|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Missense_Mutation_p.S170R O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 170 Formiminotransferase N-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) GCCCCCCAACTGGGGACAAAG 0.627000 20 55 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625955 29625955 + Nonsense_Mutation SNP A A T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr20:29625955A>T ENST00000278882.3 + 5 579 c.199A>T c.(199-201)Aga>Tga p.R67* FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATTGGACCAAGAGAACAATG 0.338000 7 96 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42476846 42476846 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr17:42476846G>A ENST00000434000.1 - 9 2647 c.2365C>T c.(2365-2367)Cgg>Tgg p.R789W GPATCH8_ENST00000591680.1_Missense_Mutation_p.R867W Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 867 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TAAGAACGCCGGGAGGAACGA 0.537000 4 113 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60694805 60694805 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr11:60694805G>A ENST00000005286.4 + 2 383 c.230G>A c.(229-231)cGa>cAa p.R77Q TMEM132A_ENST00000453848.2_Missense_Mutation_p.R77Q NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 77 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CTGAGCTCCCGATCTGAGACC 0.642000 4 154 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80620353 80620353 + Missense_Mutation SNP A A T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr2:80620353A>T ENST00000466387.1 + 12 1798 c.1074A>T c.(1072-1074)aaA>aaT p.K358N CTNNA2_ENST00000361291.4_Missense_Mutation_p.K392N|CTNNA2_ENST00000343114.3_Missense_Mutation_p.K37N|CTNNA2_ENST00000541047.1_Missense_Mutation_p.K358N|CTNNA2_ENST00000540488.1_Missense_Mutation_p.K358N|CTNNA2_ENST00000402739.4_Missense_Mutation_p.K358N|CTNNA2_ENST00000496558.1_Missense_Mutation_p.K358N P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 358 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GGAAAGAAAAAGGAGATCCTC 0.279000 13 260 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20618684 20618684 + Silent SNP T T C TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr4:20618684T>C ENST00000504154.1 + 35 4251 c.3999T>C c.(3997-3999)tgT>tgC p.C1333C SLIT2_ENST00000503837.1_Silent_p.C1329C|SLIT2_ENST00000273739.5_Silent_p.C1346C|SLIT2_ENST00000503823.1_Silent_p.C1325C NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1333 EGF-like 7.|Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TGCCTGGCTGTGAGCCATGCC 0.592000 19 86 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16956761 16956761 + RNA SNP C C G TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr1:16956761C>G ENST00000412962.1 - 0 294 CCTGGACCTGCCCTGGGGCAG 0.647000 3 3 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140731531 140731531 + Silent SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr5:140731531C>T ENST00000523390.1 + 1 1704 c.1704C>T c.(1702-1704)tcC>tcT p.S568S PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGATGGCTCCGCCCTCTTCG 0.677000 15 70 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53762522 53762522 + Silent SNP C C A rs143089101 byFrequency TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr19:53762522C>A ENST00000341702.3 + 1 978 c.894C>A c.(892-894)atC>atA p.I298I VN1R2_ENST00000598458.1_3'UTR NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 298 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) TACAACACATCTGTAGGAACA 0.493000 69 93 9.07738e-34 1.02815e-33 1 1 0 GIF 2694 broad.mit.edu 37 11 59612919 59612919 + Nonsense_Mutation SNP C C T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr11:59612919C>T ENST00000257248.2 - 1 55 c.8G>A c.(7-9)tGg>tAg p.W3* GIF_ENST00000541311.1_5'UTR NM_005142.2 NP_005133.2 P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 3 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 GAGGGCAAACCAGGCCATCTC 0.478000 24 137 0 0 1 0 0 CCDC135 84229 broad.mit.edu 37 16 57760065 57760065 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr16:57760065G>A ENST00000360716.3 + 14 2065 c.1844G>A c.(1843-1845)cGc>cAc p.R615H CCDC135_ENST00000394337.4_Missense_Mutation_p.R615H|CCDC135_ENST00000336825.8_Missense_Mutation_p.R550H Q8IY82 CC135_HUMAN coiled-coil domain containing 135 615 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 GCGGAGGAGCGCATCCAGCTG 0.632000 4 119 0 0 1 0 0 CABP4 57010 broad.mit.edu 37 11 67223619 67223619 + Silent SNP G G T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr11:67223619G>T ENST00000438189.2 + 3 356 c.12G>T c.(10-12)ccG>ccT p.P4P CABP4_ENST00000325656.5_Intron P57796 CABP4_HUMAN calcium binding protein 4 0 visual perception cytoplasm|extracellular region|terminal button calcium ion binding central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) TGACAGAGCCGTGGCTGGCCC 0.657000 10 71 1.58986e-06 1.63403e-06 1 1 0 LMTK2 22853 broad.mit.edu 37 7 97833262 97833262 + Missense_Mutation SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr7:97833262G>A ENST00000297293.5 + 13 4540 c.4247G>A c.(4246-4248)gGc>gAc p.G1416D NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1416 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CTAGGTGGTGGCTTTGAGTGG 0.493000 74 159 0 0 1 0 0 KRT72 140807 broad.mit.edu 37 12 52986206 52986206 + Missense_Mutation SNP T T C TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr12:52986206T>C ENST00000293745.2 - 4 857 c.772A>G c.(772-774)Aaa>Gaa p.K258E KRT72_ENST00000354310.4_Missense_Mutation_p.K258E|KRT72_ENST00000398066.3_Missense_Mutation_p.K70E|KRT72_ENST00000537672.2_Missense_Mutation_p.K258E NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 258 Coil 1B.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) TTGAAGAATTTAATCTCATCT 0.502000 16 54 0 0 1 0 0 CELA3A 10136 broad.mit.edu 37 1 22336270 22336270 + Missense_Mutation SNP G G T TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr1:22336270G>T ENST00000290122.3 + 7 734 c.715G>T c.(715-717)Gtt>Ttt p.V239F NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GACCAGCTTTGTTTCTGCCTT 0.612000 4 67 1.06961e-07 1.12007e-07 1 1 0 SIPA1 6494 broad.mit.edu 37 11 65410029 65410029 + Silent SNP G G A TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr11:65410029G>A ENST00000394224.3 + 4 1199 c.903G>A c.(901-903)ccG>ccA p.P301P SIPA1_ENST00000534313.1_Silent_p.P301P|SIPA1_ENST00000394227.3_Silent_p.P301P|SIPA1_ENST00000527525.1_Silent_p.P301P NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 301 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 ACGTGGCGCCGCAGCTGAGCC 0.692000 5 23 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120057173 120057174 + Frame_Shift_Del DEL CT CT - TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr1:120057173_120057174delCT ENST00000235547.6 + 4 1172_1173 c.1033_1034delCT c.(1033-1035)cfs p.L345fs HSD3B1_ENST00000369413.3_Frame_Shift_Del_p.L343fs|HSD3B1_ENST00000528909.1_Frame_Shift_Del_p.L343fs NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 343 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) GTATAAGCCACTCTACAGCTGG 0.510 18 97 --- --- --- --- HDGF 3068 broad.mit.edu 37 1 156714066 156714068 + In_Frame_Del DEL CTT CTT - TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr1:156714066_156714068delCTT ENST00000357325.5 - 4 690_692 c.376_378delAAG c.(376-378)del p.K126del HDGF_ENST00000416666.2_In_Frame_Del_p.K94del|HDGF_ENST00000537739.1_In_Frame_Del_p.K126del|HDGF_ENST00000368206.5_In_Frame_Del_p.K142del|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368209.5_In_Frame_Del_p.K119del NM_004494.2 NP_004485.1 P51858 HDGF_HUMAN hepatoma-derived growth factor 126 Glu-rich. cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|extracellular space|nucleus DNA binding|growth factor activity|heparin binding|nucleotide binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Breast(1374;0.198) Colorectal(1306;0.018) CTGCATTCCCCTTCTTATCACCG 0.571 131 500 --- --- --- --- COL7A1 1294 broad.mit.edu 37 3 48631047 48631048 + Frame_Shift_Ins INS - - GTTG TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr3:48631047_48631048insGTTG ENST00000328333.8 - 3 455_456 c.348_349insCAAC c.(346-351)aactcgfs p.S117fs COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.S117fs NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 117 Nonhelical region (NC1).|VWFA 1. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCTGTGCGAGTGTTGCCCCCCT 0.619 24 96 --- --- --- --- SPAG1 6674 broad.mit.edu 37 8 101178202 101178203 + Splice_Site INS - - TA TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr8:101178202_101178203insTA ENST00000388798.2 + 3 491 c.e3+1 SPAG1_ENST00000251809.3_Splice_Site|SPAG1_ENST00000520508.1_Splice_Site|SPAG1_ENST00000520643.1_Splice_Site NM_003114.4 NP_003105.2 Q07617 SPAG1_HUMAN sperm associated antigen 1 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) TGATATAAAGGTATATAGTAAT 0.381 18 40 --- --- --- --- LOC101928823 101928823 broad.mit.edu 37 11 112332121 112332121 + RNA DEL T T - TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr11:112332121delT ENST00000528496.1 + 0 231 TGATTTTATGTTTTTTTTTTT 0.378 2 4 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 3 5 --- --- --- --- MYCBP2 23077 broad.mit.edu 37 13 77791957 77791989 + Splice_Site DEL GTTTTAAAAATTCCTTACAGAAAAACTTCCAAA GTTTTAAAAATTCCTTACAGAAAAACTTCCAAA - TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr13:77791957_77791989delGTTTTAAAAATTCCTTACAGAAAAACTTCCAAA ENST00000407578.2 - 21 3309_3324 c.3057_splice c.e21+1 p.1015_splice MYCBP2_ENST00000357337.6_Splice_Site_p.977_splice|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Splice_Site_p.977_splice NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 977 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TATTATTAATGTTTTAAAAATTCCTTACAGAAAAACTTCCAAATGTGAAGACC 0.335 9 58 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-IQ-A61K-01A-11D-A30E-08 TCGA-IQ-A61K-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12f47978-41eb-42bc-9cc4-e4ba4bf55101 e35153eb-f2d2-44af-bcd2-28bdded32ad1 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 3 6 --- --- --- ---