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 SLC5A11 115584 broad.mit.edu 37 16 24902200 24902200 + Silent SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr16:24902200G>A ENST00000347898.3 + 9 1297 c.675G>A c.(673-675)gcG>gcA p.A225A SLC5A11_ENST00000545376.1_Silent_p.A155A|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000568579.1_Silent_p.A155A|SLC5A11_ENST00000424767.2_Silent_p.A190A|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000539472.1_Silent_p.A161A|SLC5A11_ENST00000567758.1_Silent_p.A190A|SLC5A11_ENST00000565769.1_Silent_p.A161A NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 225 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) GTTTTGCCGCGGTTGGTGGGA 0.542000 98 159 0 0 1 0 0 USP41 373856 broad.mit.edu 37 22 20729838 20729838 + Silent SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr22:20729838C>T ENST00000454608.2 - 6 341 c.342G>A c.(340-342)cgG>cgA p.R114R ubiquitin specific peptidase 41 endometrium(1)|kidney(1)|lung(2)|skin(1) 5 CTGCTTTCTGCCGGCTGTCCT 0.597000 3 32 0 0 1 0 0 ALS2CR12 130540 broad.mit.edu 37 2 202216040 202216040 + Missense_Mutation SNP G G A rs143899839 TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr2:202216040G>A ENST00000405148.2 - 2 531 c.88C>T c.(88-90)Cgc>Tgc p.R30C ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R30C|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.R30C|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R30C NM_139163.2 NP_631902.2 Q96Q35 AL2SB_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 30 regulation of GTPase activity protein binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2) 21 GAGTTCTTGCGTGGTAGTTGA 0.517000 11 36 0 0 1 0 0 ZNF710 374655 broad.mit.edu 37 15 90611415 90611415 + Missense_Mutation SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr15:90611415G>A ENST00000268154.4 + 2 1297 c.1046G>A c.(1045-1047)cGg>cAg p.R349Q NM_198526.2 NP_940928.2 Q8N1W2 ZN710_HUMAN zinc finger protein 710 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) CAGGGCACCCGGCCCCACAAG 0.642000 71 35 0 0 1 0 0 LCA5 167691 broad.mit.edu 37 6 80197346 80197346 + Missense_Mutation SNP G G A rs139048294 TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr6:80197346G>A ENST00000392959.1 - 9 2080 c.1469C>T c.(1468-1470)cCa>cTa p.P490L LCA5_ENST00000369846.4_Missense_Mutation_p.P490L NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 490 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) AGGTAACAATGGCAAAACAGG 0.383000 66 108 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24537588 24537588 + Missense_Mutation SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr5:24537588C>T ENST00000264463.4 - 3 934 c.427G>A c.(427-429)Gag>Aag p.E143K NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 143 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AACTCTGACTCTGGCTCTACT 0.423000 HNSCC(23;0.051) 62 109 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73593703 73593703 + Missense_Mutation SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr15:73593703G>A ENST00000339362.5 + 29 4654 c.4207G>A c.(4207-4209)Ggg>Agg p.G1403R NEO1_ENST00000560262.1_Missense_Mutation_p.G1350R|NEO1_ENST00000261908.6_Missense_Mutation_p.G1403R|NEO1_ENST00000558964.1_Missense_Mutation_p.G1392R Q92859 NEO1_HUMAN neogenin 1 1403 axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 AGCCTCCATCGGGACTCTAGG 0.557000 3 36 0 0 1 0 0 SKIL 6498 broad.mit.edu 37 3 170099114 170099114 + Nonsense_Mutation SNP C C G rs140174204 by1000genomes TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr3:170099114C>G ENST00000458537.3 + 2 1890 c.1181C>G c.(1180-1182)tCa>tGa p.S394* SKIL_ENST00000259119.4_Nonsense_Mutation_p.S394*|SKIL_ENST00000426052.2_Nonsense_Mutation_p.S374*|SKIL_ENST00000413427.2_Nonsense_Mutation_p.S394* NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 394 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CAGACACATTCATTTTTACAC 0.383000 33 56 0 0 1 0 0 YWHAE 7531 broad.mit.edu 37 17 1268269 1268269 + Nonsense_Mutation SNP T T A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr17:1268269T>A ENST00000264335.8 - 2 415 c.148A>T c.(148-150)Aag>Tag p.K50* YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000571732.1_Nonsense_Mutation_p.K28*|YWHAE_ENST00000575977.1_Nonsense_Mutation_p.K50* NM_006761.4 NP_006752.1 P62258 1433E_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 50 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) ATCACATTCTTATATGCAACA 0.413000 T """FAM22a, FAM22B""" edometrial stromal sarcoma Miller-Dieker lissencephaly syndrome 10 153 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860863 16860863 + Silent SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr19:16860863G>A ENST00000524140.2 + 6 1828 c.1410G>A c.(1408-1410)tcG>tcA p.S470S NWD1_ENST00000523826.1_Silent_p.S264S|NWD1_ENST00000379808.3_Silent_p.S470S|NWD1_ENST00000552788.1_Silent_p.S470S|NWD1_ENST00000339803.6_Silent_p.S335S|NWD1_ENST00000549814.1_Silent_p.S470S NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 470 NACHT. ATP binding p.S335S(1)|p.S470S(1) NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CAGCTTGCTCGGGGGCACTGG 0.632000 51 105 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21829276 21829276 + Silent SNP T T C TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr14:21829276T>C ENST00000216297.2 - 16 2228 c.1890A>G c.(1888-1890)aaA>aaG p.K630K NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 630 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TTTTATAACGTTTCTGTACTT 0.408000 19 113 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021787 132021787 + Missense_Mutation SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr2:132021787C>T ENST00000356920.5 + 15 2853 c.2759C>T c.(2758-2760)gCc>gTc p.A920V POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 920 Actin-like. ATP binding TGCTATGTTGCCCTGGACTTC 0.587000 13 513 0 0 1 0 0 CST6 1474 broad.mit.edu 37 11 65780370 65780370 + Missense_Mutation SNP G G T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr11:65780370G>T ENST00000312134.2 + 2 518 c.314G>T c.(313-315)gGa>gTa p.G105V NM_001323.3 NP_001314.1 Q15828 CYTM_HUMAN cystatin E/M 105 anatomical structure morphogenesis extracellular region cysteine-type endopeptidase inhibitor activity large_intestine(1)|lung(1)|ovary(1) 3 AGGGTCACTGGAGACCACGTC 0.657000 17 30 1.5739e-10 1.6911e-10 1 1 0 RNPS1 10921 broad.mit.edu 37 16 2304013 2304013 + Missense_Mutation SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr16:2304013C>T ENST00000567147.1 - 6 673 c.659G>A c.(658-660)cGg>cAg p.R220Q RNPS1_ENST00000301730.8_Silent_p.P290P|RNPS1_ENST00000566397.1_Silent_p.P113P|RNPS1_ENST00000397086.2_Silent_p.P290P|RNPS1_ENST00000568631.1_Silent_p.P290P|RNPS1_ENST00000561718.1_Silent_p.P113P|RNPS1_ENST00000569598.2_Silent_p.P196P|RNPS1_ENST00000565678.1_Silent_p.P290P|RNPS1_ENST00000566458.1_Silent_p.P267P|AC009065.1_ENST00000454671.1_Silent_p.P92P|RNPS1_ENST00000320225.5_Silent_p.P290P Q15287 RNPS1_HUMAN RNA binding protein S1, serine-rich domain 232 Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription cytosol|nuclear speck mRNA 3'-UTR binding|nucleotide binding|protein binding endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1) 9 GGCGGCGGCCCGGGGACCGTG 0.657000 4 8 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50939408 50939408 + Silent SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr19:50939408C>T ENST00000357701.5 + 4 387 c.336C>T c.(334-336)tcC>tcT p.S112S NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 112 Ig-like C2-type 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CCCACAACTCCGCCAGCAATG 0.607000 3 10 0 0 1 0 0 AQP5 362 broad.mit.edu 37 12 50355840 50355840 + Missense_Mutation SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr12:50355840G>A ENST00000293599.6 + 1 188 c.40G>A c.(40-42)Gtg>Atg p.V14M RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA NM_001651.2 NP_001642.1 P55064 AQP5_HUMAN aquaporin 5 14 carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity large_intestine(1)|lung(3) 4 CCTCAAGGCCGTGTTCGCAGA 0.697000 19 40 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124382176 124382176 + Silent SNP A A G rs148244463 TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr8:124382176A>G ENST00000287394.5 - 7 923 c.816T>C c.(814-816)gaT>gaC p.D272D ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 272 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) catcatcatcatcatcatcgt 0.363000 8 29 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66075760 66075760 + Missense_Mutation SNP C C A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr1:66075760C>A ENST00000349533.6 + 13 2068 c.1883C>A c.(1882-1884)cCa>cAa p.P628Q LEPR_ENST00000371058.1_Missense_Mutation_p.P628Q|LEPR_ENST00000371060.3_Missense_Mutation_p.P628Q|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Missense_Mutation_p.P628Q|LEPR_ENST00000344610.8_Missense_Mutation_p.P628Q|LEPR_ENST00000406510.3_Intron NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 628 Fibronectin type-III 2. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TGGAGCAATCCAGCCTACACA 0.423000 60 71 4.88506e-25 5.48212e-25 1 1 0 YWHAE 7531 broad.mit.edu 37 17 1268270 1268270 + Nonsense_Mutation SNP A A T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr17:1268270A>T ENST00000264335.8 - 2 414 c.147T>A c.(145-147)taT>taA p.Y49* YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000571732.1_Nonsense_Mutation_p.Y27*|YWHAE_ENST00000575977.1_Nonsense_Mutation_p.Y49* NM_006761.4 NP_006752.1 P62258 1433E_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 49 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) TCACATTCTTATATGCAACAG 0.408000 T """FAM22a, FAM22B""" edometrial stromal sarcoma Miller-Dieker lissencephaly syndrome 10 155 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19745888 19745888 + Silent SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr19:19745888G>A ENST00000203556.4 - 16 1832 c.1695C>T c.(1693-1695)ccC>ccT p.P565P GMIP_ENST00000587238.1_Silent_p.P539P|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Silent_p.P536P NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 565 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TGACCACAAAGGGTACCTCCT 0.597000 37 80 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35608269 35608269 + Missense_Mutation SNP A A G TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr8:35608269A>G ENST00000287272.2 + 12 1918 c.1898A>G c.(1897-1899)aAc>aGc p.N633S UNC5D_ENST00000404895.2_Missense_Mutation_p.N702S|UNC5D_ENST00000420357.1_Missense_Mutation_p.N635S|UNC5D_ENST00000453357.2_Missense_Mutation_p.N697S|UNC5D_ENST00000449677.1_Missense_Mutation_p.N278S|UNC5D_ENST00000416672.1_Missense_Mutation_p.N707S Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 702 ZU5. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) ATGTCCTGTAACTCCCTGGAT 0.463000 66 114 0 0 1 0 0 TBC1D31 93594 broad.mit.edu 37 8 124096542 124096542 + Missense_Mutation SNP A A G TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr8:124096542A>G ENST00000287380.1 + 4 571 c.481A>G c.(481-483)Aga>Gga p.R161G TBC1D31_ENST00000378080.2_Missense_Mutation_p.R56G|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R56G|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R56G|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R161G|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R161G NM_145647.3 NP_663622.2 TBC1 domain family, member 31 TCAGAGAAAAAGAAAGCTGAA 0.433000 4 219 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138738758 138738758 + Missense_Mutation SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr3:138738758G>A ENST00000329447.5 - 1 1010 c.746C>T c.(745-747)cCg>cTg p.P249L MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 249 Pro-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTCCGGGAGCGGCGAGCGCGC 0.672000 4 83 0 0 1 0 0 USP13 8975 broad.mit.edu 37 3 179462957 179462957 + Missense_Mutation SNP T T C TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr3:179462957T>C ENST00000263966.3 + 13 2132 c.1661T>C c.(1660-1662)gTt>gCt p.V554A USP13_ENST00000482333.1_Intron|USP13_ENST00000496897.1_Missense_Mutation_p.V489A NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 554 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) CCAGAAAATGTTGATGATTTC 0.512000 31 58 0 0 1 0 0 TTC27 55622 broad.mit.edu 37 2 33007733 33007733 + Missense_Mutation SNP G G T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr2:33007733G>T ENST00000317907.4 + 15 2051 c.1820G>T c.(1819-1821)cGa>cTa p.R607L NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 607 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 TCCTATATCCGATTAAAACAA 0.294000 17 20 5.35267e-07 5.5734e-07 1 1 0 DIAPH2 1730 broad.mit.edu 37 X 96354743 96354743 + Missense_Mutation SNP G G C TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chrX:96354743G>C ENST00000324765.8 + 20 2645 c.2298G>C c.(2296-2298)gaG>gaC p.E766D DIAPH2_ENST00000373061.3_Missense_Mutation_p.E766D|DIAPH2_ENST00000355827.4_Missense_Mutation_p.E766D|DIAPH2_ENST00000373054.4_Missense_Mutation_p.E762D|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E766D O60879 DIAP2_HUMAN diaphanous-related formin 2 766 FH2. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 AATTAGCAGAGCTTAAGAATG 0.358000 22 4 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187539564 187539564 + Nonsense_Mutation SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr4:187539564G>A ENST00000441802.2 - 10 8385 c.8176C>T c.(8176-8178)Cga>Tga p.R2726* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2726 Cadherin 25. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.R2729R(1)|p.R2726R(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGTTCTGCTCGGATGAGATCT 0.453000 HNSCC(5;0.00058) 56 101 0 0 1 0 0 MAGT1 84061 broad.mit.edu 37 X 77112890 77112890 + Silent SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chrX:77112890C>T ENST00000358075.6 - 4 677 c.591G>A c.(589-591)caG>caA p.Q197Q NM_032121.5 NP_115497.4 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 165 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 17 ACCGGGCAATCTGCTCAGCTG 0.463000 75 19 0 0 1 0 0 TMCO3 55002 broad.mit.edu 37 13 114202741 114202741 + Nonsense_Mutation SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr13:114202741C>T ENST00000434316.2 + 12 2253 c.1894C>T c.(1894-1896)Cga>Tga p.R632* TMCO3_ENST00000375391.1_Intron NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 632 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) GAGCCGGGCGCGAAGAGCGGG 0.652000 49 77 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124382194 124382194 + Missense_Mutation SNP A A T rs140021846 byFrequency TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr8:124382194A>T ENST00000287394.5 - 7 905 c.798T>A c.(796-798)gaT>gaA p.D266E ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 266 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) cgtcatcatcatcatcatctt 0.368000 4 42 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245582982 245582982 + Silent SNP G G T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr1:245582982G>T ENST00000407071.2 + 4 1541 c.1101G>T c.(1099-1101)tcG>tcT p.S367S NM_018012.3 NP_060482.2 Q2KJY2 KI26B_HUMAN kinesin family member 26B 367 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) TCCCAGCCTCGCAGGGCTCCT 0.587000 34 94 1.36615e-20 1.51627e-20 1 1 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 57 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39026668 39026668 + Missense_Mutation SNP A A C TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr19:39026668A>C ENST00000355481.4 + 81 11664 c.11533A>C c.(11533-11535)Aac>Cac p.N3845H AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.N3850H|RYR1_ENST00000359596.3_Missense_Mutation_p.N3850H NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3850 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGAGAGACAGAACAAGGCCGA 0.577000 8 15 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70471085 70471085 + Nonsense_Mutation SNP C C A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chrX:70471085C>A ENST00000373998.1 - 4 1418 c.721G>T c.(721-723)Gag>Tag p.E241* ZMYM3_ENST00000373978.1_Nonsense_Mutation_p.E243*|ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.E243*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.E241*|ZMYM3_ENST00000373981.1_Nonsense_Mutation_p.E241*|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.E243*|ZMYM3_ENST00000373982.1_Nonsense_Mutation_p.E243*|ZMYM3_ENST00000353904.2_Nonsense_Mutation_p.E241*|ZMYM3_ENST00000489332.1_5'UTR NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 241 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) CTAACGCGCTCGCTTCTCTTC 0.527000 32 8 1.99505e-19 2.19022e-19 1 1 0 HELZ2 85441 broad.mit.edu 37 20 62200824 62200824 + Silent SNP G G A rs143216041 TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr20:62200824G>A ENST00000467148.1 - 4 834 c.765C>T c.(763-765)ttC>ttT p.F255F NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GGCCAAAGTCGAAGACCACCC 0.677000 22 30 0 0 1 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56807790 56807790 + Missense_Mutation SNP G G C TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr3:56807790G>C ENST00000413728.2 - 2 712 c.169C>G c.(169-171)Ctc>Gtc p.L57V ARHGEF3_ENST00000496106.1_Missense_Mutation_p.L57V|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.L51V|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.L22V|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.L83V|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.L51V NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 51 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) GGCGGGATGAGGTTTGCTAGC 0.473000 28 10 0 0 1 0 0 TRIM2 23321 broad.mit.edu 37 4 154217081 154217081 + Missense_Mutation SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr4:154217081C>T ENST00000338700.5 + 6 1468 c.1403C>T c.(1402-1404)cCg>cTg p.P468L TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.P441L NM_015271.3 NP_056086.2 Q9C040 TRIM2_HUMAN tripartite motif containing 2 441 cytoplasm zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1) 19 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) GTTAAGTCCCCGGGGAGCGGC 0.527000 33 41 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713956 142713956 + RNA SNP G G A rs12161184 by1000genomes TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr1:142713956G>A ENST00000610091.1 - 0 1702 AAGTTAAAGAGTAACCTGCAC 0.308000 3 26 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940602 144940602 + Missense_Mutation SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr8:144940602C>T ENST00000525985.1 - 2 6891 c.6820G>A c.(6820-6822)Gac>Aac p.D2274N P58107 EPIPL_HUMAN epiplakin 1 2274 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGCACGGGGTCGATGACGAAG 0.716000 7 208 0 0 1 0 0 ACSS1 84532 broad.mit.edu 37 20 25000701 25000701 + Silent SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr20:25000701G>A ENST00000537502.1 - 5 2473 c.942C>T c.(940-942)taC>taT p.Y314Y ACSS1_ENST00000323482.4_Silent_p.Y397Y|ACSS1_ENST00000432802.2_Silent_p.Y397Y|ACSS1_ENST00000542618.1_Silent_p.Y276Y Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 397 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AGGCATCACCGTATTTCAGCA 0.572000 4 190 0 0 1 0 0 FRG2B 441581 broad.mit.edu 37 10 135438800 135438800 + Missense_Mutation SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr10:135438800G>A ENST00000443774.1 - 4 692 c.643C>T c.(643-645)Cgg>Tgg p.R215W FRG2B_ENST00000425520.1_Missense_Mutation_p.R214W Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 214 nucleus p.R215W(1) endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) AGAGGCCCCCGGAGCCGAGTG 0.582000 37 27 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13409700 13409700 + Nonsense_Mutation SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr19:13409700C>T ENST00000360228.5 - 19 2746 c.2747G>A c.(2746-2748)tGg>tAg p.W916* CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.W917* NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 917 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CTCGCCCTCCCAGAACCCGGG 0.771000 17 22 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 3 19 0 0 1 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49658321 49658321 + Nonsense_Mutation SNP G G C TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr10:49658321G>C ENST00000249601.4 - 9 2147 c.1851C>G c.(1849-1851)taC>taG p.Y617* ARHGAP22_ENST00000374172.1_Nonsense_Mutation_p.Y508*|ARHGAP22_ENST00000435790.2_Nonsense_Mutation_p.Y623*|ARHGAP22_ENST00000477708.2_Nonsense_Mutation_p.Y450*|ARHGAP22_ENST00000417912.2_Nonsense_Mutation_p.Y633*|ARHGAP22_ENST00000374170.1_Nonsense_Mutation_p.Y458*|ARHGAP22_ENST00000417247.2_Nonsense_Mutation_p.Y527* NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 617 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CACTCCTCTCGTACTCAGTCC 0.687000 14 3 0 0 1 0 0 ADAM11 4185 broad.mit.edu 37 17 42854950 42854950 + Missense_Mutation SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr17:42854950G>A ENST00000200557.6 + 22 2051 c.1882G>A c.(1882-1884)Ggc>Agc p.G628S ADAM11_ENST00000535346.1_Missense_Mutation_p.G428S NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 628 Cys-rich. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) CTACCACCAGGGCAAGGAGCT 0.617000 57 116 0 0 1 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142567124 142567124 + Missense_Mutation SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr3:142567124G>A ENST00000295992.3 - 3 689 c.383C>T c.(382-384)tCt>tTt p.S128F PCOLCE2_ENST00000485766.1_Missense_Mutation_p.S128F NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 128 CUB 1. extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 GTTGGCATCAGAAATCATCTG 0.512000 39 61 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 155861036 155861036 + Missense_Mutation SNP A A T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr3:155861036A>T ENST00000471742.1 + 1 286 c.69A>T c.(67-69)gaA>gaT p.E23D KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389636.5_Intron NM_003471.3 NP_003462.2 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 316 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AATCCAGTGAATCGGCTCTAA 0.512000 26 34 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11001758 11001758 + Silent SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr16:11001758G>A ENST00000324288.8 + 11 2542 c.2409G>A c.(2407-2409)gcG>gcA p.A803A CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron NM_000246.3 NP_000237 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 803 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 CACTGCGGGCGCGGCAGCTGC 0.682000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 34 24 0 0 1 0 0 C12orf42 374470 broad.mit.edu 37 12 103696166 103696166 + Missense_Mutation SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr12:103696166G>A ENST00000548048.1 - 9 1098 c.602C>T c.(601-603)gCg>gTg p.A201V C12orf42_ENST00000378113.2_Missense_Mutation_p.A268V|C12orf42_ENST00000548883.1_Missense_Mutation_p.A268V|C12orf42_ENST00000315192.8_Intron Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 268 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 ATTTCCGGACGCGCCCAGGAG 0.667000 49 79 0 0 1 0 0 PHGDH 26227 broad.mit.edu 37 1 120278007 120278007 + Missense_Mutation SNP C C A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr1:120278007C>A ENST00000369407.3 + 6 2138 c.631C>A c.(631-633)Ctg>Atg p.L211M PHGDH_ENST00000369409.4_Missense_Mutation_p.L245M O43175 SERA_HUMAN phosphoglycerate dehydrogenase 245 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) CGAAGGCGCCCTGCTCCGGGC 0.622000 4 129 0.00909568 0.00909568 1 1 0 SVEP1 79987 broad.mit.edu 37 9 113173859 113173859 + Missense_Mutation SNP G G C TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr9:113173859G>C ENST00000401783.2 - 37 6468 c.6132C>G c.(6130-6132)ttC>ttG p.F2044L SVEP1_ENST00000374469.1_Missense_Mutation_p.F2021L|SVEP1_ENST00000297826.5_5'UTR NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2044 Sushi 11. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AGCAGTAGTAGAATGCAATGT 0.557000 15 27 0 0 1 0 0 MVP 9961 broad.mit.edu 37 16 29852959 29852959 + Missense_Mutation SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr16:29852959G>A ENST00000357402.5 + 9 1372 c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K MVP_ENST00000395353.1_Missense_Mutation_p.E412K|MVP_ENST00000452209.2_3'UTR NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 412 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 GACCCAGGACGAAGTCCTGTG 0.617000 20 18 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321370 52321370 + Silent SNP T T C TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr8:52321370T>C ENST00000356297.4 - 17 2914 c.2814A>G c.(2812-2814)acA>acG p.T938T PXDNL_ENST00000543296.1_Silent_p.T938T NM_144651.4 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 938 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGGGTGGGCCTGTAGAAAAGG 0.647000 9 39 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159898436 159898436 + Silent SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr1:159898436G>A ENST00000368094.1 - 19 2939 c.2742C>T c.(2740-2742)ccC>ccT p.P914P IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.P898P NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 914 Pro-rich. P -> L (in dbSNP:rs35574000). cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GCAAGGGACTGGGTGGGGCTG 0.652000 5 9 0 0 1 0 0 RHPN2 85415 broad.mit.edu 37 19 33517486 33517486 + Missense_Mutation SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr19:33517486C>T ENST00000254260.3 - 3 273 c.238G>A c.(238-240)Gtc>Atc p.V80I RHPN2_ENST00000400226.4_5'UTR NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 80 signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) TCTGAGTTGACGAAGCTCAGC 0.562000 62 89 0 0 1 0 0 EPN1 29924 broad.mit.edu 37 19 56200276 56200276 + Silent SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr19:56200276G>A ENST00000411543.2 + 5 1399 c.852G>A c.(850-852)gcG>gcA p.A284A EPN1_ENST00000591743.1_3'UTR|EPN1_ENST00000270460.6_Silent_p.A173A|EPN1_ENST00000085079.7_Silent_p.A173A NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 173 8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CTCCCGAGGCGGAGCAGGCGT 0.692000 5 6 0 0 1 0 0 TRIM63 84676 broad.mit.edu 37 1 26385115 26385115 + Splice_Site SNP C C A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr1:26385115C>A ENST00000374272.3 - 5 736 c.e5-1 NM_032588.3 NP_115977.2 Q969Q1 TRI63_HUMAN tripartite motif containing 63, E3 ubiquitin protein ligase cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GACTGTTCTCCTGAGGACGGA 0.498000 4 74 0.00024832 0.000250803 1 1 0 MAGEA12 4111 broad.mit.edu 37 X 151900051 151900051 + Missense_Mutation SNP C C G TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chrX:151900051C>G ENST00000393900.3 - 3 1103 c.750G>C c.(748-750)ttG>ttC p.L250F CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.L250F|MAGEA12_ENST00000357916.4_Missense_Mutation_p.L250F NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 250 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCTGCACCAAATCTTGGG 0.567000 32 104 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559351 129559351 + Missense_Mutation SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr12:129559351G>A ENST00000422113.2 - 9 2695 c.2369C>T c.(2368-2370)aCg>aTg p.T790M TMEM132D_ENST00000389441.4_Missense_Mutation_p.T328M NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 790 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GATGTTTGCCGTTCCAACAGC 0.483000 33 86 0 0 1 0 0 HAS2 3037 broad.mit.edu 37 8 122626355 122626355 + Missense_Mutation SNP A A T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr8:122626355A>T ENST00000303924.4 - 4 2190 c.1653T>A c.(1651-1653)gaT>gaA p.D551E NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 551 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) AAGATCATACATCAAGCACCA 0.443000 52 135 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887546 12887546 + Missense_Mutation SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr1:12887546C>T ENST00000535591.1 - 3 506 c.311G>A c.(310-312)cGg>cAg p.R104Q NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 104 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 CAAGGGCTGCCGTTCTCTCAT 0.493000 5 214 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62740332 62740332 + Silent SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr1:62740332G>A ENST00000371153.4 - 3 822 c.444C>T c.(442-444)gcC>gcT p.A148A KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 148 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 AAGTGAGCTCGGCATCCTCTG 0.627000 21 47 0 0 1 0 0 SOS1 6654 broad.mit.edu 37 2 39250333 39250333 + Missense_Mutation SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr2:39250333C>T ENST00000426016.1 - 11 1322 c.1236G>A c.(1234-1236)atG>atA p.M412I SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.M412I|SOS1_ENST00000428721.2_3'UTR|SOS1_ENST00000402219.2_Missense_Mutation_p.M412I Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 412 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) GTTTCCCCTTCATTTGCTGAC 0.353000 Noonan syndrome 31 49 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9584174 9584174 + Missense_Mutation SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr8:9584174G>A ENST00000310430.6 + 13 1971 c.1945G>A c.(1945-1947)Gat>Aat p.D649N TNKS_ENST00000518281.1_Missense_Mutation_p.D412N NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 649 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) ACGTACTTCTGATGTTGATTA 0.363000 70 119 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49690722 49690722 + Missense_Mutation SNP G G A rs142148405 TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr3:49690722G>A ENST00000296452.4 + 5 3847 c.3733G>A c.(3733-3735)Gca>Aca p.A1245T NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1245 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TCAGCCTGCCGCAGAGGGCAC 0.637000 41 67 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43893772 43893772 + Missense_Mutation SNP A A G TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr1:43893772A>G ENST00000562955.1 + 26 3731 c.3731A>G c.(3730-3732)cAg>cGg p.Q1244R SZT2_ENST00000372442.1_Missense_Mutation_p.Q402R NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1301 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GAGCATGCACAGCGGTGCTAT 0.637000 34 69 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31425842 31425842 + Silent SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr16:31425842C>T ENST00000389202.2 + 17 2116 c.2067C>T c.(2065-2067)ttC>ttT p.F689F NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 689 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity p.F689F(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GTGCCATTTTCAATGAAACCA 0.493000 171 296 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149489805 149489805 + RNA SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr7:149489805G>A ENST00000378016.2 + 0 5861 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCATCCACCGCAAGGCACGC 0.687000 13 15 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16230365 16230365 + Missense_Mutation SNP A A G TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr16:16230365A>G ENST00000399408.2 + 30 4361 c.4186A>G c.(4186-4188)Atg>Gtg p.M1396V ABCC1_ENST00000399410.3_Missense_Mutation_p.M1386V|ABCC1_ENST00000351154.5_Missense_Mutation_p.M1327V|ABCC1_ENST00000346370.5_Missense_Mutation_p.M1330V|ABCC1_ENST00000345148.5_Missense_Mutation_p.M1386V|ABCC1_ENST00000349029.5_Missense_Mutation_p.M1271V P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1386 ABC transporter 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TTCCCTCCGAATGAACCTGGA 0.552000 10 25 0 0 1 0 0 SGK2 10110 broad.mit.edu 37 20 42204997 42204997 + Missense_Mutation SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr20:42204997G>A ENST00000373100.1 + 12 1287 c.827G>A c.(826-828)cGg>cAg p.R276Q SGK2_ENST00000373092.3_Missense_Mutation_p.R276Q|SGK2_ENST00000341458.4_Missense_Mutation_p.R336Q|SGK2_ENST00000423407.3_Missense_Mutation_p.R276Q|SGK2_ENST00000373077.1_Missense_Mutation_p.R275Q|SGK2_ENST00000426287.1_Missense_Mutation_p.R302Q Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 336 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CAGAGGCAGCGGCTGGGCTCC 0.602000 36 62 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139606274 139606274 + Missense_Mutation SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr8:139606274G>A ENST00000303045.6 - 63 5047 c.4601C>T c.(4600-4602)cCc>cTc p.P1534L COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1514L NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1534 Collagen-like 15.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGGACCTATGGGTCCAGAGGG 0.652000 HNSCC(7;0.00092) 35 70 0 0 1 0 0 TAL1 6886 broad.mit.edu 37 1 47691456 47691456 + Silent SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr1:47691456G>A ENST00000371883.3 - 2 681 c.105C>T c.(103-105)aaC>aaT p.N35N TAL1_ENST00000371884.2_Silent_p.N35N|TAL1_ENST00000294339.3_Silent_p.N35N P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 35 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 TGGCGACGCCGTTCAGCAGGA 0.791000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 27 31 0 0 1 0 0 RNF217-AS1 7955 broad.mit.edu 37 6 125231517 125231517 + RNA SNP T T G TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr6:125231517T>G ENST00000439075.1 - 0 3228 NR_026876.1 AGTTTGGACATTAGTGTGCAT 0.299000 16 20 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 56077173 56077173 + Missense_Mutation SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr10:56077173C>T ENST00000373965.2 - 8 1128 c.734G>A c.(733-735)cGa>cAa p.R245Q PCDH15_ENST00000395432.2_Missense_Mutation_p.R208Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000395440.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.R245Q|PCDH15_ENST00000373957.3_Missense_Mutation_p.R223Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000395446.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000395442.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R250Q|PCDH15_ENST00000320301.6_Missense_Mutation_p.R245Q|PCDH15_ENST00000373955.1_Missense_Mutation_p.R245Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.R223Q|PCDH15_ENST00000409834.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 245 Cadherin 2. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.R250Q(1)|p.R245Q(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GGTGGTGGTTCGCCTCTCATT 0.478000 HNSCC(58;0.16) 60 19 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr2:178098810C>T ENST00000397062.3 - 2 789 c.235G>A c.(235-237)Gag>Aag p.E79K NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E79K(10)|p.E79Q(10) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCACCTGTCTCTTCATCTAGT 0.443000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 41 40 0 0 1 0 0 LECT1 11061 broad.mit.edu 37 13 53313190 53313190 + Silent SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr13:53313190G>A ENST00000448904.2 - 2 299 c.189C>T c.(187-189)taC>taT p.Y63Y LECT1_ENST00000377962.3_Silent_p.Y63Y NM_001011705.1|NM_007015.2 NP_001011705.1|NP_008946.1 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 63 cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) CCTTCCAGAAGTAGAAGGCCC 0.706000 7 20 0 0 1 0 0 DOC2A 8448 broad.mit.edu 37 16 30017613 30017613 + Missense_Mutation SNP C C A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr16:30017613C>A ENST00000350119.4 - 11 1287 c.1097G>T c.(1096-1098)cGg>cTg p.R366L DOC2A_ENST00000564944.1_Missense_Mutation_p.R366L|DOC2A_ENST00000564979.1_Missense_Mutation_p.R366L NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2 NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2 Q14183 DOC2A_HUMAN double C2-like domains, alpha 366 Interaction with UNC13D. nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2) 9 CCAGTGCTTCCGAGCCTCGCC 0.721000 19 23 3.32936e-07 3.50276e-07 1 1 0 NFIL3 4783 broad.mit.edu 37 9 94172665 94172665 + Missense_Mutation SNP C C G TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr9:94172665C>G ENST00000297689.3 - 2 746 c.352G>C c.(352-354)Gag>Cag p.E118Q NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 118 Leucine-zipper. circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 GAAAGCAGCTCAGCTTTTAAA 0.393000 63 102 0 0 1 0 0 ARFRP1 10139 broad.mit.edu 37 20 62338384 62338384 + Silent SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr20:62338384G>A ENST00000440854.1 - 2 197 c.60C>T c.(58-60)atC>atT p.I20I ARFRP1_ENST00000359715.5_Silent_p.I20I|ARFRP1_ENST00000607873.1_Intron|ARFRP1_ENST00000324228.2_Silent_p.I20I|ARFRP1_ENST00000609142.1_Silent_p.I20I NM_001134758.2|NM_001267544.1|NM_001267545.1|NM_001267547.1|NM_001267549.1|NM_003224.4 NP_001128230.1|NP_001254473.1|NP_001254474.1|NP_001254476.1|NP_001254478.1|NP_003215.1 Q13795 ARFRP_HUMAN ADP-ribosylation factor related protein 1 20 small GTPase mediated signal transduction Golgi apparatus|membrane fraction GTP binding|GTPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09) Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102) CCAGGATCAGGATGCAGTACT 0.607000 28 34 0 0 1 0 0 OR51A2 401667 broad.mit.edu 37 11 4976491 4976491 + Silent SNP G G T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr11:4976491G>T ENST00000380371.1 - 1 452 c.453C>A c.(451-453)tcC>tcA p.S151S MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCTCTTAAAGGAGAATACTA 0.423000 35 97 9.62906e-15 1.04574e-14 1 1 0 PAK3 5063 broad.mit.edu 37 X 110439847 110439847 + Silent SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chrX:110439847C>T ENST00000372007.5 + 16 1777 c.1386C>T c.(1384-1386)taC>taT p.Y462Y PAK3_ENST00000360648.4_Silent_p.Y498Y|PAK3_ENST00000446737.1_Silent_p.Y462Y|PAK3_ENST00000417227.1_Silent_p.Y483Y|PAK3_ENST00000425146.1_Silent_p.Y462Y|PAK3_ENST00000519681.1_Silent_p.Y483Y|PAK3_ENST00000262836.4_Silent_p.Y477Y|PAK3_ENST00000372010.1_Silent_p.Y477Y|PAK3_ENST00000518291.1_Silent_p.Y498Y NM_002578.3 NP_002569.1 O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AACCCCCTTACCTTAATGAAA 0.438000 TSP Lung(19;0.15) 21 43 0 0 1 0 0 NCF2 4688 broad.mit.edu 37 1 183559371 183559371 + Missense_Mutation SNP C C T TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr1:183559371C>T ENST00000413720.1 - 1 368 c.94G>A c.(94-96)Gtc>Atc p.V32I NCF2_ENST00000418089.1_Missense_Mutation_p.V32I|NCF2_ENST00000367535.3_Missense_Mutation_p.V32I|NCF2_ENST00000367536.1_Missense_Mutation_p.V32I NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 32 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 GGGTCCTGGACGGCACTGAAG 0.557000 98 132 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124382167 124382167 + Missense_Mutation SNP A A T rs149531312 byFrequency TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr8:124382167A>T ENST00000287394.5 - 7 932 c.825T>A c.(823-825)gaT>gaA p.D275E ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 275 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) cttcatcatcatcatcatcat 0.378000 9 31 0 0 1 0 0 TMEM63A 9725 broad.mit.edu 37 1 226044658 226044658 + Silent SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr1:226044658G>A ENST00000366835.3 - 16 1707 c.1437C>T c.(1435-1437)ctC>ctT p.L479L NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 479 integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CAATGGAGGGGAGCAGGGCCG 0.597000 18 29 0 0 1 0 0 FRMD1 79981 broad.mit.edu 37 6 168467491 168467491 + Silent SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr6:168467491G>A ENST00000283309.6 - 4 469 c.405C>T c.(403-405)gcC>gcT p.A135A FRMD1_ENST00000440994.2_Silent_p.A67A|FRMD1_ENST00000537786.1_5'UTR NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 135 FERM. cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CCACGAAGGGGGCTCTGGGTT 0.567000 19 52 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63257179 63257179 + Missense_Mutation SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr5:63257179G>A ENST00000323865.3 - 1 601 c.368C>T c.(367-369)tCc>tTc p.S123F RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 123 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GTGCAAGATGGATGAGGTGCA 0.642000 26 13 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78443573 78443573 + Missense_Mutation SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr11:78443573G>A ENST00000278550.7 - 21 3388 c.2926C>T c.(2926-2928)Cgg>Tgg p.R976W NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 AAAGGTGCCCGCTCGAACCGC 0.542000 15 9 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16477440 16477440 + Frame_Shift_Del DEL G G - TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr1:16477440delG ENST00000358432.5 - 2 258 c.104delC c.(103-105)gctfs p.A37fs EPHA2_ENST00000461614.1_Intron NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 37 activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) TCCAGCTGCAGCAAAGTCCAG 0.607 57 39 --- --- --- --- RP11-423O2.5 0 broad.mit.edu 37 1 142813147 142813147 + RNA DEL T T - TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr1:142813147delT ENST00000423385.1 - 0 88 ATTATGTATATTTTTGAATCA 0.348 9 83 --- --- --- --- MUC5B 727897 broad.mit.edu 37 11 1276413 1276414 + Frame_Shift_Ins INS - - G TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr11:1276413_1276414insG ENST00000447027.1 + 36 15874_15875 c.15816_15817insG c.(15817-15819)gccfs p.A5273fs MUC5B_ENST00000529681.1_Frame_Shift_Ins_p.A5270fs Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 5270 VWFD 4. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACCCCCCACTGCCAGCCCCGC 0.673 4 2 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49420990 49421006 + Frame_Shift_Del DEL GGGGAAGGGGGCGGGGA GGGGAAGGGGGCGGGGA - TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr12:49420990_49421006delGGGGAAGGGGGCGGGGA ENST00000301067.7 - 48 14742_14758 c.14743_14759delTCCCCGCCCCCTTCCCC c.(14743-14760)tccccgcccccttcccccfs p.SPPPSP4915fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.P4916P(1)|p.P4646P(1) AGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCA 0.641 48 52 --- --- --- --- PRR12 57479 broad.mit.edu 37 19 50117814 50117814 + Frame_Shift_Del DEL C C - TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 316411ea-2e0b-494a-b3a9-ce8225140e32 791afb2c-5644-4d7e-8c0b-249c53d4e64a g.chr19:50117814delC ENST00000418929.2 + 7 4810 c.4798delC c.(4798-4800)cccfs p.P1602fs NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 781 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GGGGCGTGAACCCCCACCCAT 0.612 2 4 --- --- --- ---