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 PLCE1 51196 broad.mit.edu 37 10 96005737 96005737 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr10:96005737G>A ENST00000371380.3 + 7 2690 c.2455G>A c.(2455-2457)Gac>Aac p.D819N PLCE1_ENST00000371385.3_Missense_Mutation_p.D511N|PLCE1_ENST00000371375.1_Missense_Mutation_p.D511N|PLCE1_ENST00000260766.3_Missense_Mutation_p.D819N Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TTCAGACAATGACATCTTTGA 0.418000 25 75 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2717761 2717761 + Silent SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr4:2717761C>T ENST00000324666.5 + 19 3985 c.3634C>T c.(3634-3636)Cta>Tta p.L1212L FAM193A_ENST00000505311.1_Silent_p.L1171L|FAM193A_ENST00000502458.1_Silent_p.L1193L|FAM193A_ENST00000382839.3_Silent_p.L1171L|FAM193A_ENST00000545951.1_Silent_p.L1171L NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 1212 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 TGATGTCTTTCTACCTAAAGA 0.393000 20 42 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172165522 172165522 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr3:172165522G>A ENST00000241256.2 - 1 724 c.682C>T c.(682-684)Ctc>Ttc p.L228F GHSR_ENST00000427970.1_Missense_Mutation_p.L228F NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 228 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) AGGACCGTGAGACAGAAGACA 0.612000 25 73 0 0 1 0 0 PHB2 11331 broad.mit.edu 37 12 7077741 7077741 + Missense_Mutation SNP T T C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr12:7077741T>C ENST00000535923.1 - 4 591 c.310A>G c.(310-312)Atc>Gtc p.I104V PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000440277.1_Missense_Mutation_p.I104V|PHB2_ENST00000399433.2_Missense_Mutation_p.I104V|PHB2_ENST00000542912.1_Missense_Mutation_p.I104V|PHB2_ENST00000546111.1_Intron NM_001144831.1 NP_001138303.1 Q99623 PHB2_HUMAN prohibitin 2 104 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial inner membrane|nucleus estrogen receptor binding|receptor activity ovary(2)|pancreas(1) 3 CGCAGGGAGATATTCACCATC 0.532000 12 23 0 0 1 0 0 RANBP17 64901 broad.mit.edu 37 5 170395287 170395287 + Missense_Mutation SNP G G T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr5:170395287G>T ENST00000523189.1 + 14 1780 c.1616G>T c.(1615-1617)cGa>cTa p.R539L NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 539 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGATTGCCTCGATGTTGTAAT 0.343000 T TRD@ ALL 3 37 1 1 1 1 0 WASH3P 374666 broad.mit.edu 37 15 102516511 102516511 + RNA SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr15:102516511C>T ENST00000557932.1 + 0 1459 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 AGACTTGGGCCGTTGCTCTGA 0.627000 3 38 0 0 1 0 0 HDAC5 10014 broad.mit.edu 37 17 42156557 42156557 + Silent SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr17:42156557G>A ENST00000225983.6 - 24 3359 c.3036C>T c.(3034-3036)atC>atT p.I1012I HDAC5_ENST00000336057.5_Silent_p.I926I|HDAC5_ENST00000393622.2_Silent_p.I1011I|HDAC5_ENST00000586802.1_Silent_p.I1011I Q9UQL6 HDAC5_HUMAN histone deacetylase 5 1011 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) AGGCATCACAGATGGCGGTCA 0.632000 17 28 0 0 1 0 0 DRP2 1821 broad.mit.edu 37 X 100492731 100492731 + Silent SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chrX:100492731G>A ENST00000395209.3 + 5 932 c.405G>A c.(403-405)gtG>gtA p.V135V DRP2_ENST00000541709.1_Silent_p.V57V|DRP2_ENST00000402866.1_Silent_p.V135V|DRP2_ENST00000538510.1_Silent_p.V135V NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 135 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 AGGGGGATGTGGCCCTGGTGC 0.537000 77 17 0 0 1 0 0 BLMH 642 broad.mit.edu 37 17 28599906 28599906 + Silent SNP C C G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr17:28599906C>G ENST00000261714.6 - 8 987 c.813G>C c.(811-813)gtG>gtC p.V271V BLMH_ENST00000394819.3_Silent_p.V184V NM_000386.3 NP_000377.1 Q13867 BLMH_HUMAN bleomycin hydrolase 271 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1) 13 TAGGGTCATTCACTAAACAAA 0.408000 32 68 0 0 1 0 0 SLC27A4 10999 broad.mit.edu 37 9 131117338 131117338 + Missense_Mutation SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr9:131117338C>T ENST00000300456.4 + 10 1448 c.1331C>T c.(1330-1332)cCg>cTg p.P444L SLC27A4_ENST00000372870.1_Intron NM_005094.3 NP_005085.2 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid transporter), member 4 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 CCAGGTGAGCCGGGCCAGCTG 0.587000 3 17 0 0 1 0 0 TBC1D23 55773 broad.mit.edu 37 3 100023715 100023715 + Missense_Mutation SNP C C A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr3:100023715C>A ENST00000394144.4 + 12 1296 c.1289C>A c.(1288-1290)gCc>gAc p.A430D TBC1D23_ENST00000344949.5_Missense_Mutation_p.A430D|TBC1D23_ENST00000475134.1_Missense_Mutation_p.A293D|TBC1D23_ENST00000486274.1_3'UTR NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 430 Rhodanese. intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 GTGAGTATTGCCAGTGGAGGA 0.294000 4 17 0.00116845 0.00119262 1 1 0 MYO7A 4647 broad.mit.edu 37 11 76893106 76893106 + Missense_Mutation SNP C C T rs113326082 TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr11:76893106C>T ENST00000409709.3 + 24 3286 c.3014C>T c.(3013-3015)gCg>gTg p.A1005V MYO7A_ENST00000409893.1_Missense_Mutation_p.A1005V|MYO7A_ENST00000409619.2_Missense_Mutation_p.A994V|MYO7A_ENST00000458637.2_Missense_Mutation_p.A1005V NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1005 actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GCCAAGTTCGCGGCCACCTAC 0.612000 25 120 0 0 1 0 0 DNTT 1791 broad.mit.edu 37 10 98079147 98079147 + Splice_Site SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr10:98079147G>A ENST00000419175.1 + 3 677 c.507G>A c.(505-507)acG>acA p.T169T DNTT_ENST00000371174.2_Splice_Site_p.T169T NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 169 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) AGATATTCACGGTAACGGGAC 0.448000 53 114 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228482592 228482592 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr1:228482592G>A ENST00000570156.2 + 48 12868 c.12794G>A c.(12793-12795)gGg>gAg p.G4265E OBSCN_ENST00000359599.6_Missense_Mutation_p.G2683E|OBSCN_ENST00000366707.4_Missense_Mutation_p.G955E|OBSCN_ENST00000422127.1_Missense_Mutation_p.G3836E|OBSCN_ENST00000284548.11_Missense_Mutation_p.G3836E|OBSCN_ENST00000366709.4_Missense_Mutation_p.G955E NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3308 Ig-like 44. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGGAGGAAGGGGTCTGAGACC 0.592000 93 177 0 0 1 0 0 ZFP2 80108 broad.mit.edu 37 5 178358366 178358366 + Missense_Mutation SNP A A G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr5:178358366A>G ENST00000361362.2 + 5 582 c.52A>G c.(52-54)Aat>Gat p.N18D ZFP2_ENST00000520301.1_Missense_Mutation_p.N18D|ZFP2_ENST00000503510.2_Missense_Mutation_p.N18D|ZFP2_ENST00000523286.1_Missense_Mutation_p.N18D NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 18 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) CTGGGAACCTAATAATTGGTT 0.453000 43 45 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81058181 81058181 + Missense_Mutation SNP G G T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr10:81058181G>T ENST00000334512.5 + 15 2082 c.1510G>T c.(1510-1512)Gtg>Ttg p.V504L NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 504 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) GCCGGTTCCTGTGGCAAATTA 0.587000 92 180 4.64247e-43 5.32624e-43 1 1 0 AKAP12 9590 broad.mit.edu 37 6 151673794 151673794 + Missense_Mutation SNP C C A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr6:151673794C>A ENST00000402676.2 + 4 4508 c.4268C>A c.(4267-4269)gCg>gAg p.A1423E AKAP12_ENST00000253332.1_Missense_Mutation_p.A1423E|AKAP12_ENST00000359755.5_Missense_Mutation_p.A1318E|AKAP12_ENST00000354675.6_Missense_Mutation_p.A1325E NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 1423 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) ACTCTAACAGCGGCTGCAGAG 0.483000 44 50 1.61572e-30 1.83944e-30 1 1 0 IGLV4-69 28784 broad.mit.edu 37 22 22385848 22385848 + RNA SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr22:22385848C>T ENST00000390282.2 + 0 397 PRAMENP_ENST00000337471.4_RNA CTATTACTGTCAGACCTGGGG 0.542000 23 53 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146805381 146805381 + Silent SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr7:146805381G>A ENST00000361727.3 + 5 1209 c.693G>A c.(691-693)caG>caA p.Q231Q NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 231 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GAGAAGGACAGCAAGGAGATT 0.398000 HNSCC(39;0.1) 11 35 0 0 1 0 0 CAMK1D 57118 broad.mit.edu 37 10 12858264 12858264 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr10:12858264G>A ENST00000378847.3 + 8 1107 c.770G>A c.(769-771)cGg>cAg p.R257Q CAMK1D_ENST00000378845.1_Missense_Mutation_p.R257Q NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 257 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) GACTTCATTCGGAACCTGATG 0.498000 23 45 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44055782 44055782 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr17:44055782G>A ENST00000344290.5 + 5 671 c.349G>A c.(349-351)Gaa>Aaa p.E117K MAPT_ENST00000574436.1_Missense_Mutation_p.E117K|MAPT_ENST00000420682.2_Missense_Mutation_p.E88K|MAPT_ENST00000431008.3_Missense_Mutation_p.E117K|MAPT_ENST00000262410.5_Missense_Mutation_p.E117K|MAPT_ENST00000415613.2_Missense_Mutation_p.E117K|MAPT_ENST00000334239.8_Missense_Mutation_p.E59K|MAPT_ENST00000351559.5_Missense_Mutation_p.E117K|MAPT_ENST00000571987.1_Missense_Mutation_p.E117K|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000347967.5_Missense_Mutation_p.E23K|MAPT_ENST00000576518.1_Missense_Mutation_p.E48K|MAPT_ENST00000446361.3_Missense_Mutation_p.E59K|MAPT_ENST00000340799.5_Missense_Mutation_p.E88K|MAPT_ENST00000535772.1_Missense_Mutation_p.E117K NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 117 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) CCTGGAAGACGAAGCTGCTGG 0.537000 32 62 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 49 0 0 1 0 0 TRAM1L1 133022 broad.mit.edu 37 4 118006125 118006125 + Missense_Mutation SNP G G C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr4:118006125G>C ENST00000310754.4 - 1 611 c.425C>G c.(424-426)tCt>tGt p.S142C NM_152402.2 NP_689615.2 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 1 142 TLC. protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 GCAGTTTTCAGAGATTAAAAT 0.388000 29 76 0 0 1 0 0 AFF4 27125 broad.mit.edu 37 5 132232119 132232119 + Missense_Mutation SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr5:132232119C>T ENST00000265343.5 - 11 2582 c.2203G>A c.(2203-2205)Gag>Aag p.E735K AFF4_ENST00000378595.3_Missense_Mutation_p.E735K NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 735 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTGGGCGGCTCTGTTTCTTTG 0.453000 40 59 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7756685 7756685 + Missense_Mutation SNP A A G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr17:7756685A>G ENST00000254846.5 + 22 5284 c.4895A>G c.(4894-4896)gAc>gGc p.D1632G KDM6B_ENST00000448097.2_Missense_Mutation_p.D1632G NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1632 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CAGGCCTACGACGCCTTCACG 0.746000 3 10 0 0 1 0 0 TMTC4 84899 broad.mit.edu 37 13 101294500 101294500 + Missense_Mutation SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr13:101294500C>T ENST00000342624.5 - 7 964 c.706G>A c.(706-708)Gcc>Acc p.A236T TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.A106T|TMTC4_ENST00000376234.3_Missense_Mutation_p.A217T NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 217 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CACAGCATGGCCACTGCTCCC 0.502000 96 103 0 0 1 0 0 ERVW-1 30816 broad.mit.edu 37 7 92099563 92099563 + Missense_Mutation SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr7:92099563C>T ENST00000493463.2 - 1 1056 c.133G>A c.(133-135)Gga>Aga p.G45R AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.G45R|ERVW-1_ENST00000604270.1_Intron NM_014590.3 NP_055405.3 Q9UQF0 ENW1_HUMAN 45 syncytium formation integral to membrane|plasma membrane|virion endometrium(1)|large_intestine(1)|lung(15) 17 tcaatatttccgggacgctgc 0.522000 73 104 0 0 1 0 0 FUT4 2526 broad.mit.edu 37 11 94277903 94277903 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr11:94277903G>A ENST00000358752.2 + 1 887 c.604G>A c.(604-606)Gat>Aat p.D202N NM_002033.3 NP_002024.1 P22083 FUT4_HUMAN fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) 202 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction alpha(1,3)-fucosyltransferase activity central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CGGGGGGCGCGATAGCGCCCC 0.746000 16 20 0 0 1 0 0 SNORD114-3 767579 broad.mit.edu 37 14 101419750 101419750 + RNA SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr14:101419750C>T ENST00000364969.1 + 0 65 NR_003195.1 GTCTGAAACTCTGAGGTCCAA 0.388000 30 48 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17085018 17085018 + RNA SNP A A G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr1:17085018A>G ENST00000455405.2 - 0 170 AGCCACGCGCAGCTTGGAACG 0.602000 16 159 0 0 1 0 0 GPR20 2843 broad.mit.edu 37 8 142367976 142367976 + Missense_Mutation SNP A A T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr8:142367976A>T ENST00000377741.3 - 2 138 c.48T>A c.(46-48)aaT>aaA p.N16K NM_005293.2 NP_005284.2 Q99678 GPR20_HUMAN G protein-coupled receptor 20 16 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) CTGCGGTGGCATTGGGGACTG 0.677000 11 27 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40433886 40433886 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr19:40433886G>A ENST00000221347.6 - 2 390 c.383C>T c.(382-384)gCg>gTg p.A128V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 128 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGTCAGCTCCGCTGTGTCAGG 0.567000 11 81 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42476563 42476563 + Missense_Mutation SNP C C G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr17:42476563C>G ENST00000434000.1 - 9 2930 c.2648G>C c.(2647-2649)cGc>cCc p.R883P GPATCH8_ENST00000591680.1_Missense_Mutation_p.R961P Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 961 Ser-rich. 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) ACTGCTGCTGCGGCTGCGGCC 0.602000 32 65 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52129343 52129343 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr19:52129343G>A ENST00000222107.4 - 8 1544 c.1406C>T c.(1405-1407)gCa>gTa p.A469V SIGLEC5_ENST00000429354.3_Missense_Mutation_p.A469V|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.A469V|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.A469V|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.A469V O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 469 cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) TCTCCCAGCTGCTTGCTTCCT 0.542000 61 43 0 0 1 0 0 OPN1LW 5956 broad.mit.edu 37 X 153416241 153416241 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chrX:153416241G>A ENST00000369951.4 + 2 286 c.226G>A c.(226-228)Gcg>Acg p.A76T OPN1LW_ENST00000463296.1_3'UTR NM_020061.4 NP_064445.2 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 76 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCTTGTGCTGGCGGCCACCAT 0.567000 33 98 0 0 1 0 0 HIST1H4I 8294 broad.mit.edu 37 6 27107308 27107308 + Missense_Mutation SNP C C A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr6:27107308C>A ENST00000354348.2 + 1 233 c.221C>A c.(220-222)aCg>aAg p.T74K HIST1H2BK_ENST00000396891.4_Intron NM_003495.2 NP_003486.1 P62805 H4_HUMAN histone cluster 1, H4i 74 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 GTGACCTACACGGAGCACGCC 0.627000 T BCL6 NHL 27 66 2.41591e-17 2.68838e-17 1 1 0 ATG14 22863 broad.mit.edu 37 14 55878361 55878361 + Missense_Mutation SNP C C G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr14:55878361C>G ENST00000247178.5 - 1 215 c.180G>C c.(178-180)caG>caC p.Q60H NM_014924.4 NP_055739.2 Q6ZNE5 BAKOR_HUMAN autophagy related 14 60 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13 AATCGCCGCTCTGAACGCATT 0.662000 9 20 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158238833 158238833 + Silent SNP T T G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr4:158238833T>G ENST00000296526.7 + 5 1015 c.690T>G c.(688-690)gtT>gtG p.V230V GRIA2_ENST00000264426.9_Silent_p.V230V|GRIA2_ENST00000449365.1_Silent_p.V183V|GRIA2_ENST00000507898.1_Silent_p.V183V|GRIA2_ENST00000393815.2_Silent_p.V183V NM_000826.3 NP_000817 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 230 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GAAAACATGTTAAAGGGTACC 0.234000 10 9 0 0 1 0 0 TAF11 6882 broad.mit.edu 37 6 34855587 34855587 + Missense_Mutation SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr6:34855587C>T ENST00000361288.4 - 1 279 c.148G>A c.(148-150)Gaa>Aaa p.E50K TAF11_ENST00000420584.2_Missense_Mutation_p.E50K NM_005643.3 NP_005634.1 Q15544 TAF11_HUMAN TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa 50 positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIID complex protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 GCTGCAGCTTCTTTCAAGTCC 0.587000 100 112 0 0 1 0 0 NCR2 9436 broad.mit.edu 37 6 41309536 41309536 + Silent SNP T T G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr6:41309536T>G ENST00000373083.4 + 3 621 c.399T>G c.(397-399)tcT>tcG p.S133S NCR2_ENST00000373089.5_Silent_p.S133S|NCR2_ENST00000373086.3_Silent_p.S133S NM_001199510.1 NP_001186439.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 133 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) TGGCAGCCTCTGCCTCCACAC 0.632000 59 68 0 0 1 0 0 TGFBR1 7046 broad.mit.edu 37 9 101904817 101904817 + Splice_Site SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr9:101904817G>A ENST00000374994.4 + 5 922 c.e5-1 TGFBR1_ENST00000552516.1_Splice_Site|TGFBR1_ENST00000550253.1_Splice_Site|TGFBR1_ENST00000374990.2_Splice_Site NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) CTGTTTTACAGACAATGGTAC 0.378000 29 14 0 0 1 0 0 NXPH1 30010 broad.mit.edu 37 7 8790921 8790921 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr7:8790921G>A ENST00000405863.1 + 3 1249 c.338G>A c.(337-339)gGc>gAc p.G113D NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 113 III. extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) GTTAAAACGGGCAAGTTTAAG 0.463000 28 60 0 0 1 0 0 CXorf21 80231 broad.mit.edu 37 X 30578311 30578311 + Silent SNP G G C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chrX:30578311G>C ENST00000378962.3 - 3 484 c.162C>G c.(160-162)ctC>ctG p.L54L NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 54 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 AGCTCACGTAGAGACTTCTGA 0.458000 76 39 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29665073 29665073 + Silent SNP A A G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr17:29665073A>G ENST00000358273.4 + 45 7118 c.6735A>G c.(6733-6735)caA>caG p.Q2245Q NF1_ENST00000444181.2_Silent_p.Q38Q|NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Silent_p.Q2224Q NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2245 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CATCCCTGCAACCAAGAGCTC 0.358000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 59 79 0 0 1 0 0 YY1 7528 broad.mit.edu 37 14 100728716 100728716 + Missense_Mutation SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr14:100728716C>T ENST00000262238.4 + 2 1015 c.755C>T c.(754-756)tCa>tTa p.S252L NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 252 cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) CCTGATTATTCAGAATATATG 0.383000 20 54 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936310 4936310 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr11:4936310G>A ENST00000322013.3 - 1 612 c.584C>T c.(583-585)gCc>gTc p.A195V MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTCATGTCGGCACAGGCCAA 0.463000 4 64 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20161115 20161115 + Silent SNP G G C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr3:20161115G>C ENST00000263754.4 + 8 1631 c.1176G>C c.(1174-1176)ggG>ggC p.G392G NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 392 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 CTGTGGCTGGGACAATTTCAT 0.498000 15 48 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144784000 144784000 + Nonsense_Mutation SNP G G T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr6:144784000G>T ENST00000367545.3 + 22 3064 c.3064G>T c.(3064-3066)Gag>Tag p.E1022* NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1022 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CAGAGCTTTTGAGGTAAATCC 0.338000 16 57 3.52763e-06 3.67669e-06 1 1 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 8 64 0 0 1 0 0 ZNF839 55778 broad.mit.edu 37 14 102807669 102807669 + Missense_Mutation SNP C C G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr14:102807669C>G ENST00000262236.5 + 8 1950 c.1595C>G c.(1594-1596)cCt>cGt p.P532R ZNF839_ENST00000558850.1_Missense_Mutation_p.P530R|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000442396.2_Missense_Mutation_p.P646R|ZNF839_ENST00000559185.1_Missense_Mutation_p.P530R NM_018335.4 NP_060805.3 A8K0R7 ZN839_HUMAN zinc finger protein 839 530 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GGTTTTTCCCCTCCAGTAAAT 0.532000 22 49 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30846940 30846940 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr18:30846940G>A ENST00000383096.3 - 14 1531 c.1349C>T c.(1348-1350)aCg>aTg p.T450M CCDC178_ENST00000403303.1_Missense_Mutation_p.T450M|CCDC178_ENST00000406524.2_Missense_Mutation_p.T450M|CCDC178_ENST00000402325.1_Missense_Mutation_p.T450M|CCDC178_ENST00000579947.1_Missense_Mutation_p.T450M|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.T450M|CCDC178_ENST00000583930.1_Missense_Mutation_p.T450M coiled-coil domain containing 178 ATTGTCTTCCGTCAGTTTTGT 0.274000 8 12 0 0 1 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111741706 111741706 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr9:111741706G>A ENST00000374595.4 - 7 1035 c.956C>T c.(955-957)tCt>tTt p.S319F CTNNAL1_ENST00000325580.6_Missense_Mutation_p.S319F|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.S319F Q9UBT7 CTNL1_HUMAN catenin (cadherin-associated protein), alpha-like 1 319 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) CAATGTCACAGAAAGGTTCTC 0.423000 28 16 0 0 1 0 0 TCFL5 10732 broad.mit.edu 37 20 61485398 61485398 + Missense_Mutation SNP G G C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr20:61485398G>C ENST00000335351.3 - 5 1442 c.1350C>G c.(1348-1350)atC>atG p.I450M TCFL5_ENST00000217162.5_Missense_Mutation_p.I402M NM_006602.2 NP_006593.2 Q9UL49 TCFL5_HUMAN transcription factor-like 5 (basic helix-loop-helix) 450 Helix-loop-helix motif. cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1) 9 Breast(26;5.68e-08) GTCTTTCCTGGATGTATTTCA 0.418000 32 50 0 0 1 0 0 SPNS1 83985 broad.mit.edu 37 16 28990582 28990582 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr16:28990582G>A ENST00000311008.11 + 4 928 c.551G>A c.(550-552)cGg>cAg p.R184Q SPNS1_ENST00000323081.8_Missense_Mutation_p.R111Q|SPNS1_ENST00000561868.1_3'UTR|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Missense_Mutation_p.R229Q|SPNS1_ENST00000352260.7_Missense_Mutation_p.R162Q|SPNS1_ENST00000334536.8_Missense_Mutation_p.R184Q NM_032038.2 NP_114427.1 Q9H2V7 SPNS1_HUMAN spinster homolog 1 (Drosophila) 184 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1) 21 GCCGACCAGCGGAGCCGGATG 0.662000 53 145 0 0 1 0 0 SYNE3 161176 broad.mit.edu 37 14 95905371 95905371 + Splice_Site SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr14:95905371C>T ENST00000334258.5 - 13 2389 c.2375G>A c.(2374-2376)cGc>cAc p.R792H SYNE3_ENST00000554873.1_Splice_Site_p.R549H|SYNE3_ENST00000557275.1_Splice_Site_p.R792H NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CAGACTCACGCGTCGACGATG 0.562000 71 141 0 0 1 0 0 SLC7A8 23428 broad.mit.edu 37 14 23597256 23597256 + Silent SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr14:23597256G>A ENST00000316902.7 - 10 2138 c.1413C>T c.(1411-1413)caC>caT p.H471H SLC7A8_ENST00000453702.1_Silent_p.H268H|SLC7A8_ENST00000422941.2_Silent_p.H247H|SLC7A8_ENST00000529705.2_Silent_p.H366H|SLC7A8_ENST00000469263.1_Intron NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 471 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) ACTTGGGCTTGTGTTGCCAGT 0.562000 26 45 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30673873 30673873 + Silent SNP G G A rs149848514 by1000genomes TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr6:30673873G>A ENST00000376406.3 - 10 3734 c.3087C>T c.(3085-3087)ggC>ggT p.G1029G MDC1_ENST00000376405.2_Silent_p.G765G|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1029 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 ATTCCTGATCGCCCTAGGGAG 0.493000 Other conserved DNA damage response genes 36 40 0 0 1 0 0 FGF23 8074 broad.mit.edu 37 12 4479679 4479679 + Missense_Mutation SNP G G C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr12:4479679G>C ENST00000237837.1 - 3 731 c.586C>G c.(586-588)Cgg>Ggg p.R196G NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 196 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) ATCCGGGCCCGGGGCTTCAGC 0.687000 32 47 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42485710 42485710 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr19:42485710G>A ENST00000545399.1 - 11 1573 c.1420C>T c.(1420-1422)Cgt>Tgt p.R474C ATP1A3_ENST00000543770.1_Missense_Mutation_p.R472C|ATP1A3_ENST00000602133.1_Missense_Mutation_p.R431C|ATP1A3_ENST00000302102.5_Missense_Mutation_p.R461C NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 461 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TTGCGTTCACGCATCAGCTTC 0.557000 13 107 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 23 48 0 0 1 0 0 VNN1 8876 broad.mit.edu 37 6 133004406 133004406 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr6:133004406G>A ENST00000367928.4 - 7 1428 c.1415C>T c.(1414-1416)aCa>aTa p.T472I NM_004666.2 NP_004657.2 O95497 VNN1_HUMAN vanin 1 472 acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) CAGAGTTACTGTTAAGACAGG 0.418000 24 21 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83758452 83758452 + Missense_Mutation SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr7:83758452C>T ENST00000265362.4 - 3 634 c.320G>A c.(319-321)gGa>gAa p.G107E SEMA3A_ENST00000436949.1_Missense_Mutation_p.G107E NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GATGTCTTTTCCAGCCCACTT 0.353000 17 44 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118344057 118344057 + Missense_Mutation SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr11:118344057C>T ENST00000534358.1 + 3 2206 c.2183C>T c.(2182-2184)tCt>tTt p.S728F KMT2A_ENST00000354520.4_Missense_Mutation_p.S728F|KMT2A_ENST00000389506.5_Missense_Mutation_p.S728F NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GGAACATCTTCTTCAGGAGTA 0.418000 24 12 0 0 1 0 0 METTL12 751071 broad.mit.edu 37 11 62433367 62433367 + Nonsense_Mutation SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr11:62433367C>T ENST00000532971.1 + 2 273 c.16C>T c.(16-18)Cga>Tga p.R6* C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000354588.3_Intron NM_001043229.1 NP_001036694.1 A8MUP2 MTL12_HUMAN methyltransferase like 12 6 mitochondrion methyltransferase activity endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 6 CGCGCTGCGTCGAATGCTCCA 0.637000 27 49 0 0 1 0 0 OLFML1 283298 broad.mit.edu 37 11 7531133 7531133 + Nonsense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr11:7531133G>A ENST00000329293.3 + 3 1317 c.923G>A c.(922-924)tGg>tAg p.W308* OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Nonsense_Mutation_p.W308* NM_198474.3 NP_940876.2 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 308 Olfactomedin-like. extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GAGCATTCATGGGATACCCCA 0.572000 25 53 0 0 1 0 0 TARBP1 6894 broad.mit.edu 37 1 234536968 234536968 + Missense_Mutation SNP A A G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr1:234536968A>G ENST00000040877.1 - 25 4029 c.4030T>C c.(4030-4032)Ttt>Ctt p.F1344L TARBP1_ENST00000483404.1_5'UTR NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1344 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GTTGCAAAAAAGAAATGCTCC 0.373000 10 25 0 0 1 0 0 ZNF131 7690 broad.mit.edu 37 5 43122225 43122225 + Silent SNP T T C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr5:43122225T>C ENST00000509634.1 + 1 526 c.70T>C c.(70-72)Ttg>Ctg p.L24L ZNF131_ENST00000306938.4_Silent_p.L24L|ZNF131_ENST00000399534.1_Silent_p.L24L|ZNF131_ENST00000509156.1_Silent_p.L24L|ZNF131_ENST00000505606.2_Silent_p.L24L|ZNF131_ENST00000509931.1_Silent_p.L24L P52739 ZN131_HUMAN zinc finger protein 131 24 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 CCTCGACCGATTGAATGAACA 0.507000 40 46 0 0 1 0 0 CUTC 51076 broad.mit.edu 37 10 101515429 101515429 + Missense_Mutation SNP C C G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr10:101515429C>G ENST00000370476.5 + 9 884 c.755C>G c.(754-756)tCc>tGc p.S252C NM_015960.2 NP_057044.2 Q9NTM9 CUTC_HUMAN cutC copper transporter 252 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) TCAGAATATTCCCTAAAGGTA 0.408000 12 11 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98015254 98015254 + Silent SNP T T C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr1:98015254T>C ENST00000370192.3 - 12 1486 c.1386A>G c.(1384-1386)ccA>ccG p.P462P NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 462 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity p.P462P(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GATCTACTTCTGGGAGACCCC 0.398000 10 37 0 0 1 0 0 CEP104 9731 broad.mit.edu 37 1 3745892 3745892 + Missense_Mutation SNP C C G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr1:3745892C>G ENST00000378230.3 - 15 2413 c.2089G>C c.(2089-2091)Gaa>Caa p.E697Q NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 697 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 TTTATTTCTTCTTTCTTTTGT 0.393000 14 26 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22383245 22383245 + Missense_Mutation SNP A A G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr15:22383245A>G ENST00000328795.4 + 1 864 c.773A>G c.(772-774)tAc>tGc p.Y258C RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATCTTCATCTACATGTGCCCT 0.448000 49 138 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172165526 172165526 + Silent SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr3:172165526G>A ENST00000241256.2 - 1 720 c.678C>T c.(676-678)ttC>ttT p.F226F GHSR_ENST00000427970.1_Silent_p.F226F NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 226 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CCGTGAGACAGAAGACAGGAA 0.622000 26 70 0 0 1 0 0 LCORL 254251 broad.mit.edu 37 4 17847521 17847521 + Missense_Mutation SNP C C A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr4:17847521C>A ENST00000326877.4 - 7 904 c.780G>T c.(778-780)atG>atT p.M260I LCORL_ENST00000539056.1_Missense_Mutation_p.C142F NM_153686.7 NP_710153.2 Q8N3X6 LCORL_HUMAN ligand dependent nuclear receptor corepressor-like regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 TCACTTGTAGCATGCTGGAAG 0.353000 36 70 1.36615e-20 1.53174e-20 1 1 0 STAP2 55620 broad.mit.edu 37 19 4333721 4333721 + Silent SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr19:4333721C>T ENST00000600324.1 - 3 334 c.267G>A c.(265-267)ctG>ctA p.L89L STAP2_ENST00000594605.1_Silent_p.L89L NM_017720.2 NP_060190.2 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 89 PH. cytoplasm|nucleus protein binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CCCGGAGAATCAGGCTGAAGT 0.567000 35 61 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143958156 143958156 + Missense_Mutation SNP C C G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr8:143958156C>G ENST00000292427.4 - 4 773 c.741G>C c.(739-741)tgG>tgC p.W247C CYP11B1_ENST00000377675.3_Missense_Mutation_p.W318C|CYP11B1_ENST00000517471.1_Missense_Mutation_p.W247C NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 247 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) TGGGGCTGGTCCAGCGAGACA 0.607000 Familial Hyperaldosteronism type I 16 50 0 0 1 0 0 WDR78 79819 broad.mit.edu 37 1 67299711 67299711 + Missense_Mutation SNP G G C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr1:67299711G>C ENST00000371026.3 - 12 1909 c.1854C>G c.(1852-1854)atC>atG p.I618M WDR78_ENST00000431318.1_Missense_Mutation_p.I364M NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 618 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 CCCATTTGGAGATTCTTCCAT 0.353000 11 31 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26918047 26918047 + Silent SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr14:26918047G>A ENST00000539517.2 - 5 959 c.642C>T c.(640-642)atC>atT p.I214I NOVA1_ENST00000267422.7_Silent_p.I92I|NOVA1_ENST00000465357.2_Silent_p.I190I NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 217 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding p.I214I(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) CTTGCAAGTTGATCCCATCAG 0.488000 57 115 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9069856 9069856 + Nonsense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr19:9069856G>A ENST00000397910.4 - 3 17793 c.17590C>T c.(17590-17592)Caa>Taa p.Q5864* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5866 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGACCTGTTTGGTTGGTGATG 0.483000 66 90 0 0 1 0 0 ZNF746 155061 broad.mit.edu 37 7 149174803 149174803 + Missense_Mutation SNP G G C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr7:149174803G>C ENST00000340622.3 - 5 844 c.564C>G c.(562-564)atC>atG p.I188M ZNF746_ENST00000458143.2_Missense_Mutation_p.I188M Q6NUN9 ZN746_HUMAN zinc finger protein 746 188 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CCTCCTGCTTGATCTGCATCA 0.667000 24 24 0 0 1 0 0 TBX10 347853 broad.mit.edu 37 11 67402342 67402342 + Silent SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr11:67402342G>A ENST00000335385.3 - 3 409 c.322C>T c.(322-324)Ctg>Ttg p.L108L NM_005995.4 NP_005986.2 O75333 TBX10_HUMAN T-box 10 108 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 TAGTCGGCCAGGGAGTCCATG 0.657000 29 50 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58589197 58589197 + Missense_Mutation SNP A A G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr16:58589197A>G ENST00000317147.5 - 21 3181 c.2849T>C c.(2848-2850)aTg>aCg p.M950T CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Missense_Mutation_p.M950T|CNOT1_ENST00000569240.1_Missense_Mutation_p.M945T NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 950 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GAAATAATACATTTTGGATCC 0.433000 36 137 0 0 1 0 0 CYBA 1535 broad.mit.edu 37 16 88713227 88713227 + Missense_Mutation SNP C C T rs13306293 TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr16:88713227C>T ENST00000569359.1 - 4 239 c.223G>A c.(223-225)Gcc>Acc p.A75T CYBA_ENST00000567174.1_Missense_Mutation_p.A75T|CYBA_ENST00000261623.3_Missense_Mutation_p.A75T P13498 CY24A_HUMAN cytochrome b-245, alpha polypeptide 75 cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport NADPH oxidase complex|stored secretory granule electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding endometrium(1)|liver(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0478) TTCACCACGGCGGTCATGTAC 0.652000 62 69 0 0 1 0 0 SNX33 257364 broad.mit.edu 37 15 75941703 75941703 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr15:75941703G>A ENST00000308527.5 + 1 1457 c.260G>A c.(259-261)aGc>aAc p.S87N NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 87 cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 TTGTACAACAGCCCCAGTGTG 0.582000 37 27 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71096092 71096092 + Splice_Site SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr3:71096092C>T ENST00000318789.4 - 10 1190 c.e10+1 FOXP1_ENST00000484350.1_Splice_Site|FOXP1_ENST00000491238.1_Splice_Site|FOXP1_ENST00000493089.1_Splice_Site|FOXP1_ENST00000472382.1_Splice_Site|FOXP1_ENST00000468577.1_Splice_Site|FOXP1_ENST00000498215.1_Splice_Site|FOXP1_ENST00000475937.1_Splice_Site NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) TCAACGCATACCTTGAGCAAG 0.507000 T PAX5 ALL 100 199 0 0 1 0 0 JADE3 9767 broad.mit.edu 37 X 46898446 46898446 + Missense_Mutation SNP G G T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chrX:46898446G>T ENST00000218343.4 + 8 1249 c.951G>T c.(949-951)ttG>ttT p.L317F PHF16_ENST00000397189.1_Missense_Mutation_p.L317F NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 317 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 TGTGCAAGTTGAAGACGGGGG 0.532000 28 6 6.32553e-13 6.88367e-13 1 1 0 TOP3B 8940 broad.mit.edu 37 22 22324718 22324718 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr22:22324718G>A ENST00000398793.2 - 6 879 c.445C>T c.(445-447)Cgg>Tgg p.R149W TOP3B_ENST00000357179.5_Missense_Mutation_p.R149W|TOP3B_ENST00000413067.2_Intron NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 149 Toprim. DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) AACCTGGCCCGGAACACGGTC 0.607000 19 43 0 0 1 0 0 TPSD1 23430 broad.mit.edu 37 16 1308104 1308104 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr16:1308104G>A ENST00000211076.3 + 4 713 c.565G>A c.(565-567)Gta>Ata p.V189I TPSD1_ENST00000397534.2_Missense_Mutation_p.V182I NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 189 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) GGAAGTCCCCGTAGTGGAAAA 0.652000 14 14 0 0 1 0 0 MOXD1 26002 broad.mit.edu 37 6 132643910 132643910 + Missense_Mutation SNP C C A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr6:132643910C>A ENST00000367963.3 - 8 1331 c.1213G>T c.(1213-1215)Ggg>Tgg p.G405W MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Missense_Mutation_p.G337W NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 405 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) ATTTCCTTCCCTTTTCGAAAA 0.428000 18 26 1.02788e-11 1.10237e-11 1 1 0 NACA 4666 broad.mit.edu 37 12 57118263 57118263 + Missense_Mutation SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr12:57118263C>T ENST00000454682.1 - 2 324 c.43G>A c.(43-45)Gag>Aag p.E15K NACA_ENST00000393891.4_Missense_Mutation_p.E15K|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000356769.3_Missense_Mutation_p.E15K|NACA_ENST00000550952.1_Missense_Mutation_p.E15K|NACA_ENST00000552540.1_Missense_Mutation_p.E15K|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000546392.1_Missense_Mutation_p.E15K NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 15 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGCGGCAACTCCTGCTCTGTA 0.498000 T BCL6 NHL 18 5 0 0 1 0 0 SPINK7 84651 broad.mit.edu 37 5 147693762 147693762 + Missense_Mutation SNP G G C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr5:147693762G>C ENST00000274565.4 + 3 248 c.187G>C c.(187-189)Gaa>Caa p.E63Q RP11-373N22.3_ENST00000501695.3_RNA|SPINK7_ENST00000523535.1_Missense_Mutation_p.E37Q|SPINK7_ENST00000514394.1_3'UTR NM_032566.2 NP_115955.1 P58062 ISK7_HUMAN serine peptidase inhibitor, Kazal type 7 (putative) 63 Kazal-like. extracellular region protein binding|serine-type endopeptidase inhibitor activity large_intestine(2)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTATGGGAATGAATGTCACTT 0.468000 25 77 0 0 1 0 0 TTC7B 145567 broad.mit.edu 37 14 91044554 91044554 + Missense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr14:91044554G>A ENST00000357056.2 - 20 2378 c.2257C>T c.(2257-2259)Cgc>Tgc p.R753C TTC7B_ENST00000328459.6_Missense_Mutation_p.R736C|TTC7B_ENST00000554654.1_5'UTR Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 736 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) ATCTGGCCGCGCATGTAGAGG 0.592000 21 34 0 0 1 0 0 SLFN5 162394 broad.mit.edu 37 17 33592292 33592292 + Missense_Mutation SNP G G T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr17:33592292G>T ENST00000299977.4 + 5 2209 c.2061G>T c.(2059-2061)caG>caT p.Q687H SLFN5_ENST00000542451.1_3'UTR NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 687 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) ACTACTTTCAGACCTATCACT 0.502000 36 91 4.4194e-11 4.70555e-11 1 1 0 GRIN2D 2906 broad.mit.edu 37 19 48946603 48946603 + Silent SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr19:48946603G>A ENST00000263269.3 + 13 3508 c.3420G>A c.(3418-3420)ccG>ccA p.P1140P NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 1140 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) TCCCTTACCCGTATGCCGAGC 0.751000 11 18 0 0 1 0 0 LOR 4014 broad.mit.edu 37 1 153233497 153233497 + Silent SNP C C T rs67787963 TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr1:153233497C>T ENST00000368742.3 + 2 129 c.72C>T c.(70-72)ggC>ggT p.G24G NM_000427.2 NP_000418.2 P23490 LORI_HUMAN loricrin 24 keratinization|peptide cross-linking cornified envelope|cytoplasm|insoluble fraction|nucleoplasm protein binding, bridging|structural constituent of cytoskeleton lung(2) 2 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) gcggcggtggcggtggcggcg 0.682000 4 52 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22383258 22383258 + Silent SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr15:22383258C>T ENST00000328795.4 + 1 877 c.786C>T c.(784-786)ttC>ttT p.F262F RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGTGCCCTTTCAGGGCCTTAC 0.433000 44 144 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133358998 133358998 + Missense_Mutation SNP C C T rs151069773 TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr12:133358998C>T ENST00000204726.3 - 17 3907 c.3349G>A c.(3349-3351)Gag>Aag p.E1117K GOLGA3_ENST00000456883.2_Missense_Mutation_p.E1117K|GOLGA3_ENST00000450791.2_Missense_Mutation_p.E1117K NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1117 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TTCCCTTTCTCGTGCTCTAAT 0.488000 57 97 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 5 74 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578431 7578431 + Nonsense_Mutation SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr17:7578431G>A ENST00000420246.2 - 5 631 c.499C>T c.(499-501)Cag>Tag p.Q167* TP53_ENST00000359597.4_Nonsense_Mutation_p.Q167*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q167*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q167* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 167 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q167*(23)|p.0?(8)|p.Q167fs*13(3)|p.Q167fs*14(2)|p.Q167fs*3(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q167_H168>YL(1)|p.Q167K(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.Q165_M169delQSQHM(1)|p.Q167del(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q74*(1)|p.Q167E(1)|p.Q35*(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) GTCATGTGCTGTGACTGCTTG 0.642000 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) 78 27 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773809 145773809 + Missense_Mutation SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr8:145773809C>T ENST00000276826.5 - 4 862 c.661G>A c.(661-663)Gag>Aag p.E221K ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E221K|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E221K Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 221 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 AAGCTGGGCTCCCGATCAGCG 0.701000 29 48 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 28 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61328328 61328328 + Silent SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr18:61328328G>A ENST00000283752.5 - 2 266 c.123C>T c.(121-123)gtC>gtT p.V41V SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.V41V NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 41 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 CTCCTAAGAGGACCATCCCTA 0.428000 41 74 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55595241 55595241 + Missense_Mutation SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr11:55595241C>T ENST00000378397.1 + 1 547 c.547C>T c.(547-549)Cct>Tct p.P183S NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TGATCTACCCCCTCTCCTAAG 0.458000 HNSCC(27;0.073) 70 119 0 0 1 0 0 QKI 9444 broad.mit.edu 37 6 163983040 163983040 + Silent SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr6:163983040G>A ENST00000361752.3 + 5 1124 c.573G>A c.(571-573)aaG>aaA p.K191K QKI_ENST00000392127.2_Silent_p.K191K|QKI_ENST00000424802.3_Silent_p.K191K|QKI_ENST00000453779.2_Silent_p.K191K|QKI_ENST00000275262.7_Silent_p.K191K|QKI_ENST00000361195.2_Silent_p.K191K NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding 191 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) GCCTGAAGAAGATGCAGCTGA 0.438000 22 31 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180359830 180359830 + Missense_Mutation SNP T T C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr3:180359830T>C ENST00000273654.4 - 19 2696 c.2077A>G c.(2077-2079)Atg>Gtg p.M693V CCDC39_ENST00000442201.2_Missense_Mutation_p.M609V Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 609 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) GACGCAAGCATTGTTTTATGA 0.343000 14 49 0 0 1 0 0 ZNF418 147686 broad.mit.edu 37 19 58439152 58439152 + Missense_Mutation SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr19:58439152C>T ENST00000396147.1 - 4 688 c.397G>A c.(397-399)Gga>Aga p.G133R ZNF418_ENST00000595830.1_Missense_Mutation_p.G133R|ZNF418_ENST00000599852.1_Missense_Mutation_p.G48R|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.G154R NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) GGTTTCTCTCCAAGGTACTGA 0.448000 109 108 0 0 1 0 0 PDZD7 79955 broad.mit.edu 37 10 102778773 102778773 + Missense_Mutation SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr10:102778773C>T ENST00000370215.3 - 8 1355 c.1130G>A c.(1129-1131)gGa>gAa p.G377E NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 377 cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CACCCGGCCTCCCGCATCGGG 0.736000 OREG0020453 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 7 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44942821 44942821 + Missense_Mutation SNP T T C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chrX:44942821T>C ENST00000377967.4 + 23 3442 c.3401T>C c.(3400-3402)cTa>cCa p.L1134P KDM6A_ENST00000543216.1_Missense_Mutation_p.L1055P|KDM6A_ENST00000382899.4_Missense_Mutation_p.L1141P|KDM6A_ENST00000536777.1_Missense_Mutation_p.L1089P NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1134 JmjC. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 ACAGTTCAACTATACATGAAA 0.373000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 17 8 0 0 1 0 0 SLTM 79811 broad.mit.edu 37 15 59205829 59205829 + Nonsense_Mutation SNP C C A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr15:59205829C>A ENST00000380516.2 - 4 469 c.382G>T c.(382-384)Gaa>Taa p.E128* SLTM_ENST00000536328.1_5'UTR|SLTM_ENST00000557950.1_5'UTR NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 128 Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TCACCAAATTCTTCAGAGTCC 0.368000 24 35 1.10513e-12 1.19387e-12 1 1 0 CDH5 1003 broad.mit.edu 37 16 66434798 66434798 + Silent SNP C C T rs112348868 TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr16:66434798C>T ENST00000341529.3 + 11 1864 c.1716C>T c.(1714-1716)acC>acT p.T572T CDH5_ENST00000539168.1_Silent_p.T11T NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 572 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GCACGCTGACCGTGGCCGTGT 0.602000 78 91 0 0 1 0 0 ESR1 2099 broad.mit.edu 37 6 152265629 152265629 + Missense_Mutation SNP C C A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr6:152265629C>A ENST00000440973.1 + 6 1452 c.1082C>A c.(1081-1083)gCg>gAg p.A361E ESR1_ENST00000206249.3_Missense_Mutation_p.A361E|ESR1_ENST00000338799.5_Missense_Mutation_p.A361E|ESR1_ENST00000443427.1_Missense_Mutation_p.A361E|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000427531.2_Missense_Mutation_p.A188E|ESR1_ENST00000456483.2_Intron NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 361 Interaction with AKAP13.|Steroid-binding. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) ATCAACTGGGCGAAGAGGGTG 0.478000 28 39 2.79863e-10 2.95855e-10 1 1 0 CAPN3 825 broad.mit.edu 37 15 42702646 42702646 + Silent SNP C C A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr15:42702646C>A ENST00000397163.3 + 20 2355 c.2136C>A c.(2134-2136)ctC>ctA p.L712L CAPN3_ENST00000356316.3_Silent_p.L619L|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_Silent_p.L47L|CAPN3_ENST00000561817.1_Silent_p.L47L|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000357568.3_Silent_p.L706L|CAPN3_ENST00000397200.4_Silent_p.L200L|CAPN3_ENST00000569136.1_Silent_p.L47L|CAPN3_ENST00000349748.3_Silent_p.L620L|CAPN3_ENST00000318023.7_Silent_p.L706L|CAPN3_ENST00000397204.4_Silent_p.L47L NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 712 Domain IV.|EF-hand 2. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) CTGGAAAGCTCAACCTGCAGG 0.547000 46 35 1.6237e-14 1.78005e-14 1 1 0 LOC440040 440040 broad.mit.edu 37 11 49598273 49598273 + RNA SNP A A G TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr11:49598273A>G ENST00000527477.1 + 0 877 ATTCAGGTCCAGAATTTGCTC 0.478000 18 33 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150647314 150647314 + Silent SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr7:150647314G>A ENST00000392968.2 - 7 3172 c.2052C>T c.(2050-2052)taC>taT p.Y684Y KCNH2_ENST00000262186.5_Silent_p.Y780Y|KCNH2_ENST00000430723.3_Silent_p.Y780Y|KCNH2_ENST00000330883.4_Silent_p.Y440Y Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 780 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GGGAGATGAAGTACAGGGCGG 0.657000 45 92 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798315 55798315 + Missense_Mutation SNP T T C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr11:55798315T>C ENST00000313555.1 + 1 421 c.421T>C c.(421-423)Tgt>Cgt p.C141R NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) TAGGAGAGTCTGTGTCTGCTT 0.478000 11 106 0 0 1 0 0 NAA11 84779 broad.mit.edu 37 4 80246702 80246702 + Silent SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr4:80246702G>A ENST00000286794.4 - 1 502 c.330C>T c.(328-330)caC>caT p.H110H NM_032693.2 NP_116082.1 Q9BSU3 NAA11_HUMAN N(alpha)-acetyltransferase 11, NatA catalytic subunit 110 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 TCTTCCTGACGTGCAGAGACA 0.522000 26 48 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237280 140237280 + Silent SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr5:140237280G>A ENST00000307360.5 + 1 1647 c.1647G>A c.(1645-1647)acG>acA p.T549T PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron NM_018901.2 NP_061724.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAACTTGACGCTGCAGGTGT 0.687000 34 122 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25940040 25940040 + Missense_Mutation SNP C C A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr15:25940040C>A ENST00000356865.6 - 14 3125 c.3014G>T c.(3013-3015)cGg>cTg p.R1005L NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 1005 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) AGGCGTCGACCGACAGCAGAG 0.597000 21 47 8.10497e-08 8.50735e-08 1 1 0 C11orf45 219833 broad.mit.edu 37 11 128774378 128774378 + Silent SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr11:128774378C>T ENST00000310799.3 - 2 277 c.84G>A c.(82-84)ctG>ctA p.L28L C11orf45_ENST00000530168.1_5'UTR|KCNJ5_ENST00000338350.4_Intron|KCNJ5_ENST00000529694.1_Intron|C11orf45_ENST00000524878.1_Silent_p.L28L NM_001256088.1|NM_145013.2 NP_001243017.1|NP_659450.1 Q8TAV5 CK045_HUMAN chromosome 11 open reading frame 45 28 extracellular region endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2) 7 all_hematologic(175;0.0641) Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195) gcacgttgtccagctcccagc 0.587000 45 36 0 0 1 0 0 WBP2NL 164684 broad.mit.edu 37 22 42394846 42394846 + Silent SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr22:42394846C>T ENST00000328823.9 + 1 55 c.24C>T c.(22-24)acC>acT p.T8T WBP2NL_ENST00000461730.1_3'UTR NM_152613.2 NP_689826.2 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 8 egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 AGAGCCACACCGAGAACCGCC 0.647000 10 10 0 0 1 0 0 ELK1 2002 broad.mit.edu 37 X 47500685 47500685 + Silent SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chrX:47500685C>T ENST00000247161.3 - 2 255 c.156G>A c.(154-156)aaG>aaA p.K52K ELK1_ENST00000376983.3_Silent_p.K52K|ELK1_ENST00000592066.1_5'UTR|ELK1_ENST00000343894.4_Silent_p.K52K NM_005229.4 NP_005220.2 P19419 ELK1_HUMAN ELK1, member of ETS oncogene family 52 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 10 TCATGTTGGTCTTGTTCTTGC 0.552000 30 9 0 0 1 0 0 OSGIN1 29948 broad.mit.edu 37 16 83999057 83999057 + Silent SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr16:83999057G>A ENST00000343939.2 + 7 1511 c.1128G>A c.(1126-1128)gcG>gcA p.A376A OSGIN1_ENST00000361711.3_Silent_p.A293A|OSGIN1_ENST00000393306.1_Silent_p.A293A Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 376 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 TCATTGGCGCGGGGCTGTCAG 0.682000 73 50 0 0 1 0 0 APOA1BP 128240 broad.mit.edu 37 1 156561719 156561719 + Silent SNP G G A TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr1:156561719G>A ENST00000368235.3 + 1 166 c.123G>A c.(121-123)ctG>ctA p.L41L APOA1BP_ENST00000368234.3_Silent_p.L41L|APOA1BP_ENST00000368233.3_Silent_p.L41L|APOA1BP_ENST00000467374.1_3'UTR NM_144772.2 NP_658985.2 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein 41 extracellular region protein binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CGCAGCGGCTGAACTCGGGTG 0.706000 34 40 0 0 1 0 0 PNPLA5 150379 broad.mit.edu 37 22 44282275 44282275 + Nonsense_Mutation SNP C C T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr22:44282275C>T ENST00000216177.4 - 6 989 c.857G>A c.(856-858)tGg>tAg p.W286* PNPLA5_ENST00000381198.2_Nonsense_Mutation_p.W172*|PNPLA5_ENST00000597664.1_Nonsense_Mutation_p.W286*|PNPLA5_ENST00000593866.1_Nonsense_Mutation_p.W172* NM_138814.3 NP_620169.1 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 286 W -> R (in dbSNP:rs739231). lipid catabolic process hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 16 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) GCCCCCCTTCCAGCGTTGGTC 0.592000 30 65 0 0 1 0 0 MTHFD2 10797 broad.mit.edu 37 2 74432963 74432964 + Frame_Shift_Ins INS - - T TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr2:74432963_74432964insT ENST00000394053.2 + 2 313_314 c.233_234insT c.(232-237)aatcctfs p.P79fs MTHFD2_ENST00000409601.1_Frame_Shift_Ins_p.P79fs|MTHFD2_ENST00000394050.3_Intron|MTHFD2_ENST00000264090.4_Intron|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Frame_Shift_Ins_p.P79fs NM_006636.3 NP_006627.2 P13995 MTDC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase 79 folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 NADH(DB00157)|Tetrahydrofolic acid(DB00116) GTTGGCGAGAATCCTGCAAGTC 0.545 92 43 --- --- --- --- FAM170A 340069 broad.mit.edu 37 5 118970191 118970191 + Frame_Shift_Del DEL G G - TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr5:118970191delG ENST00000515256.1 + 3 920 c.748delG c.(748-750)gggfs p.G250fs A1A519 F170A_HUMAN family with sequence similarity 170, member A 250 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 TGTGCAGTTTGGGATCAGAGA 0.577 31 224 --- --- --- --- ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr8:145617535_145617549delGGGGGTGCAAGGTGA ENST00000308860.6 + 12 1301_1311 c.1257_1267delGGGGGTGCAAGGTGA c.(1255-1269)ctgggggtgcaaggt>ctgt p.GVQG420del NM_174922.3 NP_777582.4 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 420 integral to membrane protein serine/threonine kinase activity p.?(2) endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.730 4 3 --- --- --- --- C9orf117 286207 broad.mit.edu 37 9 130472879 130472879 + Splice_Site DEL G G - TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr9:130472879delG ENST00000373295.2 + 3 473 c.e3-1 NM_001012502.2 NP_001012520.2 Q5JU67 CI117_HUMAN chromosome 9 open reading frame 117 breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 6 GTGGCGGCCAGGGGGGAAGCT 0.617 2 4 --- --- --- --- TSPAN4 7106 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)ctgdel p.L92del TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 7 162 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47041234 47041238 + Frame_Shift_Del DEL CCCCA CCCCA - rs11551151 TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chrX:47041234_47041238delCCCCA ENST00000377604.3 + 15 2404_2408 c.1662_1666delCCCCA c.(1660-1668)agccccactfs p.PT555fs RBM10_ENST00000345781.6_Frame_Shift_Del_p.PT478fs|RBM10_ENST00000329236.7_Frame_Shift_Del_p.PT477fs NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 555 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CGGCTACCAGCCCCACTGCCCAGGA 0.580 21 18 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b6e6192-477f-484a-bfe6-811d252fcc92 71d2241d-fa8b-4e1d-8f55-fdff8143f572 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(25-27)tat>TATtat p.9_9Y>YY NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 6 6 --- --- --- ---