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 CRHR1 1394 broad.mit.edu 37 17 43898756 43898756 + Missense_Mutation SNP T T G TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr17:43898756T>G ENST00000314537.5 + 4 502 c.277T>G c.(277-279)Tgg>Ggg p.W93G CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000339069.5_Intron|CRHR1_ENST00000352855.5_Missense_Mutation_p.W53G|CRHR1_ENST00000398285.3_Missense_Mutation_p.W93G|CRHR1_ENST00000577353.1_Missense_Mutation_p.W93G NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 93 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CAATGGCAGCTGGGCCGCCCG 0.642000 6 113 0 0 0.001984 0 0 PCDH11X 27328 broad.mit.edu 37 X 91134175 91134175 + Missense_Mutation SNP C C T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chrX:91134175C>T ENST00000373094.1 + 2 3781 c.2936C>T c.(2935-2937)tCc>tTc p.S979F PCDH11X_ENST00000361655.2_Missense_Mutation_p.S979F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S979F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S979F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S979F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S979F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S979F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S979F|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S979F NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 979 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GACTCTATCTCCAAGTGTTCC 0.512000 65 141 0 0 0.014410 0 0 PGK2 5232 broad.mit.edu 37 6 49754598 49754598 + Silent SNP G G A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr6:49754598G>A ENST00000304801.3 - 1 455 c.303C>T c.(301-303)ggC>ggT p.G101G NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 101 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) CCACTTCTGCGCCTACACAGT 0.522000 9 116 0 0 0.008291 0 0 NAA25 80018 broad.mit.edu 37 12 112509842 112509842 + Missense_Mutation SNP G G A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr12:112509842G>A ENST00000261745.4 - 10 1141 c.893C>T c.(892-894)tCt>tTt p.S298F NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 298 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 TTTTTCTGCAGAATAATGTAC 0.393000 12 29 0 0 0.002450 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683027 50683027 + Missense_Mutation SNP C C G TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr6:50683027C>G ENST00000008391.3 + 2 466 c.238C>G c.(238-240)Cac>Gac p.H80D NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 80 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CGAGTTTCAGCACAGCCACCC 0.597000 23 62 0 0 0.012319 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967630 142967630 + Missense_Mutation SNP C C T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chrX:142967630C>T ENST00000370494.1 + 1 458 c.428C>T c.(427-429)gCa>gTa p.A143V NM_001012989.1 NP_001013007.1 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 143 acid-amino acid ligase activity breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) ACAGCTAGAGCATGGACTAGG 0.428000 38 107 0 0 0.008740 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 8 44 0 0 0.008291 0 0 TTC39A 22996 broad.mit.edu 37 1 51755792 51755792 + Splice_Site SNP C C A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr1:51755792C>A ENST00000447632.2 - 16 1535 c.e16-1 TTC39A_ENST00000262675.7_Splice_Site|TTC39A_ENST00000530004.1_Splice_Site|TTC39A_ENST00000371750.5_Splice_Site|TTC39A_ENST00000451380.1_Splice_Site|TTC39A_ENST00000413473.2_Splice_Site|TTC39A_ENST00000534098.1_Splice_Site Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A binding p.0?(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1) 17 TACTCGTTCTCTGAAAATAGG 0.473000 9 31 2.62144e-13 3.33638e-13 0.004482 1 0 CROCCP2 84809 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 3 31 0 0 0.009096 0 0 PPP3R2 5535 broad.mit.edu 37 9 104357086 104357086 + Missense_Mutation SNP C C T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr9:104357086C>T ENST00000374806.1 - 1 197 c.127G>A c.(127-129)Gtg>Atg p.V43M GRIN3A_ENST00000361820.3_Intron NM_147180.2 NP_671709.1 Q96LZ3 CANB2_HUMAN protein phosphatase 3, regulatory subunit B, beta 40 EF-hand 1. calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) AACTCCTCCACGCTCAGAGAC 0.542000 4 79 0 0 0.001984 0 0 CD300A 11314 broad.mit.edu 37 17 72469738 72469738 + Missense_Mutation SNP A A C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr17:72469738A>C ENST00000360141.3 + 2 392 c.104A>C c.(103-105)cAg>cCg p.Q35P CD300A_ENST00000392625.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 35 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 CTGAGTGTGCAGTGTCCCTAT 0.542000 29 78 0 0 0.006320 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 8 51 0 0 0.003080 0 0 XPO7 23039 broad.mit.edu 37 8 21839275 21839275 + Missense_Mutation SNP T T C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr8:21839275T>C ENST00000434536.1 + 10 1120 c.1018T>C c.(1018-1020)Tgc>Cgc p.C340R XPO7_ENST00000433566.4_Missense_Mutation_p.C332R|XPO7_ENST00000252512.9_Missense_Mutation_p.C331R Q9UIA9 XPO7_HUMAN exportin 7 331 Missing (in Ref. 3; BAA34465). mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) CCATGAGTTTTGCAGACTACT 0.393000 35 91 0 0 0.013726 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 87 0 0 0.004672 0 0 BRWD1 54014 broad.mit.edu 37 21 40582046 40582046 + Missense_Mutation SNP T T C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr21:40582046T>C ENST00000342449.3 - 36 4150 c.4072A>G c.(4072-4074)Atg>Gtg p.M1358V BRWD1_ENST00000380800.3_Missense_Mutation_p.M1358V|BRWD1_ENST00000333229.2_Missense_Mutation_p.M1358V NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1358 Bromo 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CCAAAATCCATTGGGGTATCT 0.353000 5 89 0 0 0.000602 0 0 DNAH9 1770 broad.mit.edu 37 17 11809061 11809061 + Missense_Mutation SNP C C T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr17:11809061C>T ENST00000262442.3 + 61 11752 c.11684C>T c.(11683-11685)cCa>cTa p.P3895L DNAH9_ENST00000396001.2_Missense_Mutation_p.P207L|DNAH9_ENST00000454412.2_Missense_Mutation_p.P3895L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3895 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GAATCGGGACCAGCCACTCCT 0.478000 19 33 0 0 0.014323 0 0 SCGB2A1 4246 broad.mit.edu 37 11 61977950 61977950 + Nonsense_Mutation SNP G G T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr11:61977950G>T ENST00000244930.4 + 2 185 c.121G>T c.(121-123)Gaa>Taa p.E41* NM_002407.2 NP_002398.1 O75556 SG2A1_HUMAN secretoglobin, family 2A, member 1 41 extracellular region androgen binding breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 ATCTATACCTGAATACAAAGA 0.398000 41 125 1.8453e-21 2.51165e-21 0.010771 1 0 CNTNAP3 79937 broad.mit.edu 37 9 39109190 39109190 + Missense_Mutation SNP A A T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr9:39109190A>T ENST00000297668.6 - 15 2405 c.2332T>A c.(2332-2334)Tat>Aat p.Y778N CNTNAP3_ENST00000358144.2_Missense_Mutation_p.Y690N|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.Y777N NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 778 Fibrinogen C-terminal. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CCCAGTGTATAAGCTGCTTCG 0.438000 11 34 0 0 0.008291 0 0 KIAA1109 84162 broad.mit.edu 37 4 123270439 123270439 + Silent SNP G G A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr4:123270439G>A ENST00000264501.4 + 78 13780 c.13407G>A c.(13405-13407)ggG>ggA p.G4469G KIAA1109_ENST00000388738.3_Silent_p.G4469G Q2LD37 K1109_HUMAN KIAA1109 4469 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TAGTTGGAGGGACCATAGATG 0.383000 20 55 0 0 0.012319 0 0 MOV10L1 54456 broad.mit.edu 37 22 50552903 50552903 + Silent SNP C C T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr22:50552903C>T ENST00000262794.5 + 7 1061 c.978C>T c.(976-978)gaC>gaT p.D326D MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.D326D|MOV10L1_ENST00000540615.1_Silent_p.D306D|MOV10L1_ENST00000545383.1_Silent_p.D326D NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 326 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TGGATAAAGACCAGATGTGCC 0.368000 18 65 0 0 0.006122 0 0 TGM7 116179 broad.mit.edu 37 15 43572078 43572078 + Missense_Mutation SNP G G A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr15:43572078G>A ENST00000452443.2 - 10 1427 c.1423C>T c.(1423-1425)Ccc>Tcc p.P475S NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 475 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) TCCAGGAAGGGCAAAGAAGCT 0.592000 30 110 0 0 0.013726 0 0 LRRC71 149499 broad.mit.edu 37 1 156900360 156900360 + Missense_Mutation SNP G G A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr1:156900360G>A ENST00000337428.7 + 12 1434 c.1280G>A c.(1279-1281)gGg>gAg p.G427E LRRC71_ENST00000490146.1_3'UTR NM_144702.2 NP_653303.2 Q8N4P6 LRC71_HUMAN leucine rich repeat containing 71 427 endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1) 12 AGGGCAAAAGGGATCAAGATC 0.592000 2 3 0 0 0.004672 0 0 SEC24B 10427 broad.mit.edu 37 4 110452560 110452560 + Missense_Mutation SNP C C A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr4:110452560C>A ENST00000265175.5 + 20 3327 c.3272C>A c.(3271-3273)aCa>aAa p.T1091K SEC24B_ENST00000504968.2_Missense_Mutation_p.T1121K|SEC24B_ENST00000399100.2_Missense_Mutation_p.T1056K NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 1091 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) AGAACGGGTACAAGCACACGG 0.343000 25 78 7.92952e-12 9.71366e-12 0.003954 1 0 C11orf84 144097 broad.mit.edu 37 11 63585351 63585351 + Missense_Mutation SNP A A G TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr11:63585351A>G ENST00000294244.4 + 2 501 c.202A>G c.(202-204)Aag>Gag p.K68E NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 68 endometrium(3)|kidney(1)|lung(3)|skin(1) 8 TGAGGAGCCGAAGCAGCAGGT 0.667000 10 17 0 0 0.006214 0 0 GNPTAB 79158 broad.mit.edu 37 12 102159997 102159997 + Missense_Mutation SNP A A C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr12:102159997A>C ENST00000299314.7 - 12 1746 c.1484T>G c.(1483-1485)tTt>tGt p.F495C NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 495 Gly-rich. cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 TCCTCCACCAAACTGCCAGGG 0.498000 40 86 0 0 0.009718 0 0 PAQR5 54852 broad.mit.edu 37 15 69689888 69689888 + Silent SNP C C T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr15:69689888C>T ENST00000340965.3 + 7 1262 c.594C>T c.(592-594)ctC>ctT p.L198L RP11-253M7.1_ENST00000558617.1_RNA|PAQR5_ENST00000561153.1_Silent_p.L198L|PAQR5_ENST00000395407.2_Silent_p.L198L|RP11-253M7.1_ENST00000560539.1_RNA NM_001104554.1 NP_001098024.1 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V 198 cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1) 11 GGGACTCCCTCCCCATCTTCT 0.522000 21 74 0 0 0.002780 0 0 OR4K14 122740 broad.mit.edu 37 14 20483333 20483333 + Missense_Mutation SNP G G T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr14:20483333G>T ENST00000305045.2 - 1 19 c.20C>A c.(19-21)tCc>tAc p.S7Y NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) TGACACCAAGGAATAGTTCTG 0.378000 18 54 8.10497e-08 9.68643e-08 0.010504 1 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 6 12 0 0 0.001984 0 0 PCSK6 5046 broad.mit.edu 37 15 101983760 101983760 + Splice_Site SNP C C A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr15:101983760C>A ENST00000348070.1 - 3 399 c.e3+1 PCSK6_ENST00000561177.1_Splice_Site|PCSK6_ENST00000358417.3_Splice_Site|PCSK6_ENST00000398181.2_Splice_Site|PCSK6_ENST00000344273.2_Splice_Site NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ACACTCTGTACCTGGGGGTCC 0.453000 7 166 0.00198382 0.00228723 0.001984 1 0 CHGB 1114 broad.mit.edu 37 20 5903084 5903084 + Silent SNP C C T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr20:5903084C>T ENST00000378961.4 + 4 498 c.294C>T c.(292-294)tcC>tcT p.S98S NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 98 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 CCCACGAGTCCTCCAGCAGGG 0.537000 10 20 0 0 0.006214 0 0 RGAG1 57529 broad.mit.edu 37 X 109694660 109694660 + Missense_Mutation SNP T T A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chrX:109694660T>A ENST00000465301.2 + 3 1061 c.815T>A c.(814-816)aTa>aAa p.I272K RGAG1_ENST00000540313.1_Missense_Mutation_p.I272K NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 272 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 TCCTCACTGATAATGTCAGCT 0.498000 6 180 0 0 0.001168 0 0 TEX11 56159 broad.mit.edu 37 X 69774533 69774533 + Missense_Mutation SNP T T G TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chrX:69774533T>G ENST00000395889.2 - 27 2458 c.2303A>C c.(2302-2304)cAt>cCt p.H768P TEX11_ENST00000344304.3_Missense_Mutation_p.H768P|TEX11_ENST00000374333.2_Missense_Mutation_p.H753P|TEX11_ENST00000374320.2_Missense_Mutation_p.H443P NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 768 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) AGTTTCTAAATGAGGCAACTC 0.368000 17 59 0 0 0.004007 0 0 TTLL6 284076 broad.mit.edu 37 17 46865173 46865173 + Splice_Site SNP C C T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr17:46865173C>T ENST00000393382.3 - 11 1730 c.1589_splice c.e11+1 p.R530_splice TTLL6_ENST00000433608.2_Splice_Site_p.R223_splice NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 482 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GTCTTCCTACCGGGCATACTC 0.542000 39 53 0 0 0.006230 0 0 ZNF354B 117608 broad.mit.edu 37 5 178310052 178310052 + Missense_Mutation SNP A A C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr5:178310052A>C ENST00000322434.3 + 5 825 c.599A>C c.(598-600)aAt>aCt p.N200T NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 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) CAGAATTCAAATTTACTTAAC 0.318000 33 82 0 0 0.012213 0 0 SIAE 54414 broad.mit.edu 37 11 124543579 124543579 + Missense_Mutation SNP C C T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr11:124543579C>T ENST00000263593.3 - 1 198 c.26G>A c.(25-27)gGg>gAg p.G9E SIAE_ENST00000545756.1_5'UTR|SIAE_ENST00000525730.1_Intron Q9HAT2 SIAE_HUMAN sialic acid acetylesterase 9 extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity p.G9V(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 15 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) CAGCACCAGCCCGAGTACAAG 0.711000 7 15 0 0 0.001984 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39176052 39176052 + Missense_Mutation SNP C C A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr9:39176052C>A ENST00000297668.6 - 7 1038 c.965G>T c.(964-966)cGg>cTg p.R322L CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R234L|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R322L|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R322L|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R322L NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 322 Laminin G-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TCTGAATGCCCGCGATCTTCC 0.383000 26 85 5.60225e-13 7.03872e-13 0.009535 1 0 CEBPZ 10153 broad.mit.edu 37 2 37450342 37450342 + Missense_Mutation SNP C C T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr2:37450342C>T ENST00000234170.5 - 3 1997 c.1852G>A c.(1852-1854)Ggt>Agt p.G618S NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 618 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) CTTCTTAAACCTGGTTTTGCT 0.348000 5 118 0 0 0.003080 0 0 NUP93 9688 broad.mit.edu 37 16 56852646 56852646 + Missense_Mutation SNP G G A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr16:56852646G>A ENST00000564887.1 + 4 820 c.191G>A c.(190-192)cGg>cAg p.R64Q NUP93_ENST00000308159.5_Missense_Mutation_p.R187Q|NUP93_ENST00000542526.1_Missense_Mutation_p.R64Q|NUP93_ENST00000569842.1_Missense_Mutation_p.R187Q NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 187 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 GCCTATGCGCGGCAAGTGAGT 0.443000 3 71 0 0 0.009096 0 0 PRSS12 8492 broad.mit.edu 37 4 119273399 119273399 + Missense_Mutation SNP G G C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr4:119273399G>C ENST00000296498.3 - 1 759 c.477C>G c.(475-477)gaC>gaG p.D159E NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 159 Kringle. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 AGTAGCCCCAGTCCACCTTGC 0.687000 5 19 0 0 0.000602 0 0 RPL3 6122 broad.mit.edu 37 22 39711444 39711444 + Silent SNP A A T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr22:39711444A>T ENST00000216146.4 - 5 791 c.618T>A c.(616-618)ccT>ccA p.P206P RPL3_ENST00000401609.1_Silent_p.P154P|RPL3_ENST00000465618.1_5'UTR NM_000967.3|NM_001033853.1 NP_000958.1|NP_001029025.1 P39023 RL3_HUMAN ribosomal protein L3 206 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Melanoma(58;0.04) CTTGGTTCACAGGTACCTGCT 0.587000 23 66 0 0 0.014323 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 33 0 0 0.004672 0 0 ATP8B3 148229 broad.mit.edu 37 19 1809703 1809703 + Missense_Mutation SNP C C T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr19:1809703C>T ENST00000539485.1 - 4 574 c.341G>A c.(340-342)cGt>cAt p.R114H ATP8B3_ENST00000526092.1_Missense_Mutation_p.R61H|ATP8B3_ENST00000310127.6_Missense_Mutation_p.R114H|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R61H O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 114 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTTGTAGGCACGGTTGTTGGC 0.632000 3 10 0 0 0.004672 0 0 MTOR 2475 broad.mit.edu 37 1 11188164 11188164 + Missense_Mutation SNP G G C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr1:11188164G>C ENST00000361445.4 - 43 6006 c.5930C>G c.(5929-5931)aCa>aGa p.T1977R MTOR_ENST00000376838.1_Missense_Mutation_p.T182R NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1977 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity p.T1977R(2)|p.T1977K(1) breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 AGAAGCCACTGTCAGTGGGTA 0.478000 40 141 0 0 0.014410 0 0 ZC3H12D 340152 broad.mit.edu 37 6 149773757 149773757 + Missense_Mutation SNP G G T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr6:149773757G>T ENST00000389942.5 - 5 1029 c.782C>A c.(781-783)cCt>cAt p.P261H ZC3H12D_ENST00000409806.3_Missense_Mutation_p.P261H|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.P261H|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.P261H A2A288 ZC12D_HUMAN zinc finger CCCH-type containing 12D 261 cytoplasm|nucleus endonuclease activity|nucleic acid binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921) CCCACCATAAGGACAATGCTG 0.632000 7 9 8.12818e-05 9.48288e-05 0.001984 1 0 EPS15L1 58513 broad.mit.edu 37 19 16528867 16528867 + Silent SNP G G A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr19:16528867G>A ENST00000602009.1 - 5 1432 c.537C>T c.(535-537)ttC>ttT p.F179F EPS15L1_ENST00000597937.1_Silent_p.F333F|EPS15L1_ENST00000535753.2_Silent_p.F333F|EPS15L1_ENST00000455140.2_Silent_p.F333F|EPS15L1_ENST00000248070.6_Silent_p.F333F|EPS15L1_ENST00000594975.1_Silent_p.F333F Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 333 EF-hand.|EH 2. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 TAGCTAACGCGAATTGGTCTT 0.557000 OREG0025334 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 53 0 0 0.007413 0 0 QRSL1 55278 broad.mit.edu 37 6 107102774 107102774 + Missense_Mutation SNP C C T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr6:107102774C>T ENST00000369046.4 + 8 1123 c.1019C>T c.(1018-1020)gCa>gTa p.A340V NM_018292.4 NP_060762.3 Q9H0R6 QRSL1_HUMAN glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 340 translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) TCGAATATGGCAAGATTTGAT 0.378000 6 188 0 0 0.001984 0 0 ZNF536 9745 broad.mit.edu 37 19 30936076 30936076 + Missense_Mutation SNP G G T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr19:30936076G>T ENST00000355537.3 + 2 1754 c.1607G>T c.(1606-1608)gGc>gTc p.G536V NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 536 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ATGGAACATGGCTTCTTGTCT 0.587000 22 82 1.36565e-18 1.78444e-18 0.002780 1 0 KIAA1257 57501 broad.mit.edu 37 3 128694691 128694691 + Missense_Mutation SNP T T A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr3:128694691T>A ENST00000265068.5 - 7 1119 c.952A>T c.(952-954)Atc>Ttc p.I318F KIAA1257_ENST00000515659.1_Missense_Mutation_p.I206F|KIAA1257_ENST00000511438.1_Missense_Mutation_p.I318F NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 318 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 AATTCCTTGATCTCCATCATG 0.338000 3 31 0 0 0.004672 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687088 68687088 + Missense_Mutation SNP G G C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr10:68687088G>C ENST00000361320.4 + 2 992 c.414G>C c.(412-414)ttG>ttC p.L138F CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 138 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 TACGGAACTTGGATCTGTCCT 0.418000 4 236 0 0 0.001168 0 0 LARP6 55323 broad.mit.edu 37 15 71124409 71124409 + Missense_Mutation SNP C C A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr15:71124409C>A ENST00000299213.8 - 3 1528 c.1458G>T c.(1456-1458)agG>agT p.R486S NM_018357.2 NP_060827.2 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 486 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 AGGCCCTGCTCCTCTCATGGC 0.502000 42 153 1.23713e-20 1.6608e-20 0.014410 1 0 SLC34A2 10568 broad.mit.edu 37 4 25664146 25664146 + Silent SNP A A G TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr4:25664146A>G ENST00000382051.3 + 2 74 c.24A>G c.(22-24)ggA>ggG p.G8G SLC34A2_ENST00000504570.1_Silent_p.G8G|SLC34A2_ENST00000503434.1_Silent_p.G8G NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 8 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) CTGAATTGGGAGATGCCCAGC 0.532000 T ROS1 NSCLC 18 55 0 0 0.007413 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413493 105413493 + Silent SNP C C T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr14:105413493C>T ENST00000333244.5 - 7 8414 c.8295G>A c.(8293-8295)gcG>gcA p.A2765A AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2765 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTGTCACTTCCGCCTTGGGGC 0.612000 68 159 0 0 0.014410 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42113793 42113793 + Silent SNP C C A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr15:42113793C>A ENST00000457542.2 + 24 3016 c.2730C>A c.(2728-2730)ccC>ccA p.P910P MAPKBP1_ENST00000514566.1_Silent_p.P910P|MAPKBP1_ENST00000456763.2_Silent_p.P916P|MAPKBP1_ENST00000260357.7_Silent_p.P749P|MAPKBP1_ENST00000221214.6_Silent_p.P793P NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 916 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) ATGAAAAGCCCCCTCGGCCTC 0.537000 7 114 0.00448238 0.00510783 0.004482 1 0 CEACAM5 1048 broad.mit.edu 37 19 42221598 42221598 + Missense_Mutation SNP A A C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr19:42221598A>C ENST00000221992.6 + 5 1297 c.1183A>C c.(1183-1185)Atc>Ctc p.I395L CEACAM5_ENST00000398599.4_Missense_Mutation_p.I394L|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.I395L NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 395 Ig-like 4. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TGAGTGTGGAATCCAGAACAA 0.522000 47 144 0 0 0.014410 0 0 ZNHIT6 54680 broad.mit.edu 37 1 86146557 86146557 + Silent SNP G G C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr1:86146557G>C ENST00000431532.2 - 7 1081 c.933C>G c.(931-933)ctC>ctG p.L311L ZNHIT6_ENST00000370574.3_Silent_p.L350L NM_001170670.1|NM_017953.3 NP_001164141.1|NP_060423.3 Q9NWK9 BCD1_HUMAN zinc finger, HIT-type containing 6 350 box C/D snoRNP assembly|ribosome biogenesis pre-snoRNP complex identical protein binding|metal ion binding autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1) 17 GAGGAAACTGGAGCTTCACAT 0.318000 18 52 0 0 0.014323 0 0 INTS12 57117 broad.mit.edu 37 4 106603970 106603970 + Missense_Mutation SNP A A C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr4:106603970A>C ENST00000451321.2 - 7 1788 c.1309T>G c.(1309-1311)Tca>Gca p.S437A INTS12_ENST00000394735.1_Missense_Mutation_p.S437A|INTS12_ENST00000340139.5_Missense_Mutation_p.S437A NM_001142471.1 NP_001135943.1 Q96CB8 INT12_HUMAN integrator complex subunit 12 437 Ser-rich. snRNA processing integrator complex protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) GATTCTTGTGAAGTTGGGCCT 0.438000 57 157 0 0 0.014410 0 0 SV2A 9900 broad.mit.edu 37 1 149877444 149877444 + Missense_Mutation SNP G G A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr1:149877444G>A ENST00000369146.3 - 12 2523 c.2033C>T c.(2032-2034)cCc>cTc p.P678L SV2A_ENST00000369145.1_Missense_Mutation_p.P678L NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 678 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CTTGTCTGAGGGGTAGAGTTC 0.567000 67 184 0 0 0.014410 0 0 LY6E 4061 broad.mit.edu 37 8 144102375 144102375 + Missense_Mutation SNP G G T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr8:144102375G>T ENST00000520466.1 + 3 422 c.19G>T c.(19-21)Gtg>Ttg p.V7L LY6E_ENST00000522024.1_Missense_Mutation_p.V7L|LY6E_ENST00000519546.1_Missense_Mutation_p.V7L|LY6E_ENST00000521699.1_Missense_Mutation_p.V7L|LY6E_ENST00000520531.1_Missense_Mutation_p.V7L|LY6E_ENST00000521182.1_Missense_Mutation_p.V7L|LY6E_ENST00000292494.6_Missense_Mutation_p.V7L|LY6E_ENST00000523847.1_Missense_Mutation_p.V7L|LY6E_ENST00000429120.2_Missense_Mutation_p.V7L|LY6E_ENST00000521003.1_Missense_Mutation_p.V7L|LY6E_ENST00000519611.1_Missense_Mutation_p.V7L|LY6E_ENST00000517503.1_Missense_Mutation_p.S101I|LY6E_ENST00000522528.1_Missense_Mutation_p.V7L|LY6E_ENST00000522971.1_Missense_Mutation_p.V7L Q16553 LY6E_HUMAN lymphocyte antigen 6 complex, locus E 7 cell surface receptor linked signaling pathway anchored to membrane|integral to plasma membrane endometrium(1)|kidney(3)|large_intestine(2)|lung(1) 7 all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CTTCTTGCCAGTGCTGCTGGC 0.612000 12 51 4.14922e-12 5.14713e-12 0.004007 1 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 3 27 0 0 0.004672 0 0 CYP4F11 57834 broad.mit.edu 37 19 16032977 16032977 + Splice_Site SNP C C A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr19:16032977C>A ENST00000326742.7 - 8 987 c.e8-1 CYP4F11_ENST00000402119.3_Splice_Site|CYP4F11_ENST00000248041.7_Splice_Site Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 GTGTCATGGCCTGAGGGGCAG 0.567000 18 42 1.55795e-14 2.00893e-14 0.012319 1 0 DPYD 1806 broad.mit.edu 37 1 98348868 98348868 + Missense_Mutation SNP C C G TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr1:98348868C>G ENST00000370192.3 - 2 202 c.102G>C c.(100-102)aaG>aaC p.K34N DPYD_ENST00000306031.5_Missense_Mutation_p.K34N|DPYD_ENST00000423006.2_Intron NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 34 '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 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) TGTCTAATTTCTTGGCCGAAG 0.368000 21 73 0 0 0.004656 0 0 TRIM24 8805 broad.mit.edu 37 7 138268636 138268636 + Missense_Mutation SNP G G C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr7:138268636G>C ENST00000343526.4 + 18 3050 c.2835G>C c.(2833-2835)ttG>ttC p.L945F TRIM24_ENST00000415680.2_Missense_Mutation_p.L911F O15164 TIF1A_HUMAN tripartite motif containing 24 945 Bromo. cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 CAATGGATTTGTCAACCATCA 0.284000 22 59 0 0 0.002780 0 0 IZUMO2 126123 broad.mit.edu 37 19 50657913 50657913 + Missense_Mutation SNP C C G TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr19:50657913C>G ENST00000293405.3 - 6 567 c.567G>C c.(565-567)ttG>ttC p.L189F NM_152358.2 NP_689571.2 Q6UXV1 IZUM2_HUMAN IZUMO family member 2 189 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 TGAGGATGCCCAACAGCGCCT 0.617000 24 73 0 0 0.006320 0 0 PITX2 5308 broad.mit.edu 37 4 111539370 111539370 + Missense_Mutation SNP T T C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr4:111539370T>C ENST00000354925.2 - 7 2570 c.865A>G c.(865-867)Aag>Gag p.K289E PITX2_ENST00000394595.3_3'UTR|PITX2_ENST00000355080.5_Missense_Mutation_p.K243E|PITX2_ENST00000306732.3_Missense_Mutation_p.K296E|PITX2_ENST00000394598.2_Missense_Mutation_p.K289E NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 289 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) GAGTGCTGCTTTGCTTTCAGT 0.637000 15 32 0 0 0.006122 0 0 HYDIN 54768 broad.mit.edu 37 16 71212850 71212850 + Missense_Mutation SNP A A G TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr16:71212850A>G ENST00000393567.2 - 4 512 c.362T>C c.(361-363)aTt>aCt p.I121T HYDIN_ENST00000448089.2_Missense_Mutation_p.I121T|HYDIN_ENST00000541601.1_Missense_Mutation_p.I138T|HYDIN_ENST00000448691.1_Missense_Mutation_p.I121T|HYDIN_ENST00000393550.2_Missense_Mutation_p.I121T|HYDIN_ENST00000538248.1_Missense_Mutation_p.I148T|HYDIN_ENST00000288168.10_Missense_Mutation_p.I138T|HYDIN_ENST00000321489.5_Missense_Mutation_p.I121T NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 121 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GTTCCTCAAAATCAGTGGAAC 0.398000 56 127 0 0 0.014410 0 0 LRRC19 64922 broad.mit.edu 37 9 26997769 26997769 + Silent SNP T T G TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr9:26997769T>G ENST00000380055.5 - 3 662 c.552A>C c.(550-552)ctA>ctC p.L184L IFT74_ENST00000429045.2_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron NM_022901.2 NP_075052.1 Q9H756 LRC19_HUMAN leucine rich repeat containing 19 184 LRRCT. integral to membrane breast(1)|endometrium(2)|kidney(1)|lung(2) 6 all_neural(11;1.81e-09) Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001) GCAAATTAAATAGACTGCAAG 0.343000 21 69 0 0 0.008871 0 0 MORF4L1 10933 broad.mit.edu 37 15 79187218 79187218 + Missense_Mutation SNP T T G TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr15:79187218T>G ENST00000331268.5 + 12 1180 c.976T>G c.(976-978)Tta>Gta p.L326V MORF4L1_ENST00000426013.2_Missense_Mutation_p.L287V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.L312V|MORF4L1_ENST00000558502.1_Missense_Mutation_p.L199V|MORF4L1_ENST00000559345.1_Missense_Mutation_p.L199V|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000558746.1_Missense_Mutation_p.L260V NM_206839.2 NP_996670.1 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 326 Interaction with RB1-2.|Sufficient for interaction with PHF12. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 CCTTGCTTTATTACTCAATTA 0.368000 20 75 0 0 0.012319 0 0 RAB4A 5867 broad.mit.edu 37 1 229434801 229434801 + Missense_Mutation SNP C C G TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr1:229434801C>G ENST00000366690.4 + 6 731 c.523C>G c.(523-525)Ctt>Gtt p.L175V RAB4A_ENST00000473894.1_3'UTR NM_004578.2 NP_004569.2 P20338 RAB4A_HUMAN RAB4A, member RAS oncogene family 170 GDP binding|GTP binding|GTPase activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) AAGAAAAATACTTAACAAAAT 0.348000 3 79 0 0 0.004672 0 0 TET1 80312 broad.mit.edu 37 10 70450720 70450720 + Missense_Mutation SNP A A G TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr10:70450720A>G ENST00000373644.4 + 12 5769 c.5560A>G c.(5560-5562)Act>Gct p.T1854A NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1854 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 GTCCCCGAAGACTGCTTCAGC 0.512000 28 85 0 0 0.006320 0 0 TNRC6A 27327 broad.mit.edu 37 16 24802866 24802866 + Missense_Mutation SNP C C A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr16:24802866C>A ENST00000395799.3 + 6 3032 c.2903C>A c.(2902-2904)aCa>aAa p.T968K TNRC6A_ENST00000315183.7_Missense_Mutation_p.T968K NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 968 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) CCTCCTGGTACAGGCTGGCTG 0.527000 19 59 3.32936e-07 3.93105e-07 0.006122 1 0 CYP4F11 57834 broad.mit.edu 37 19 16032978 16032978 + Splice_Site SNP T T A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr19:16032978T>A ENST00000326742.7 - 8 987 c.e8-2 CYP4F11_ENST00000402119.3_Splice_Site|CYP4F11_ENST00000248041.7_Splice_Site Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TGTCATGGCCTGAGGGGCAGC 0.567000 18 41 0 0 0.010504 0 0 FAM168A 23201 broad.mit.edu 37 11 73120706 73120706 + Splice_Site SNP C C A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr11:73120706C>A ENST00000064778.4 - 7 732 c.447_splice c.e7-1 p.G150_splice FAM168A_ENST00000450446.2_Intron|RP11-809N8.4_ENST00000536855.1_RNA|FAM168A_ENST00000356467.4_Splice_Site_p.G141_splice|RP11-809N8.4_ENST00000542598.1_RNA Q92567 F168A_HUMAN family with sequence similarity 168, member A 150 endometrium(3)|kidney(1)|lung(1) 5 TAGTAGGCTCCCTGGGGGAAA 0.582000 28 73 8.88839e-20 1.17711e-19 0.010818 1 0 LRP2 4036 broad.mit.edu 37 2 169993944 169993944 + Nonsense_Mutation SNP G G C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr2:169993944G>C ENST00000263816.3 - 76 13863 c.13578C>G c.(13576-13578)taC>taG p.Y4526* NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4526 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTCTGGCTGAGTACATTGGGT 0.438000 24 81 0 0 0.004656 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 29 0 0 0.004672 0 0 GPR149 344758 broad.mit.edu 37 3 154147212 154147212 + Missense_Mutation SNP T T C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr3:154147212T>C ENST00000389740.2 - 1 292 c.193A>G c.(193-195)Act>Gct p.T65A NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 65 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GACACAACAGTTCTGTTCTGC 0.463000 6 102 0 0 0.001168 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720917 140720917 + Silent SNP G G A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr5:140720917G>A ENST00000394576.2 + 1 2379 c.2379G>A c.(2377-2379)gcG>gcA p.A793A PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTATCAGCGCCTCAATCTC 0.453000 6 108 0 0 0.001984 0 0 UBE3B 89910 broad.mit.edu 37 12 109939265 109939265 + Missense_Mutation SNP G G A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr12:109939265G>A ENST00000342494.3 + 13 1803 c.1208G>A c.(1207-1209)aGc>aAc p.S403N UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.S403N|UBE3B_ENST00000434735.2_Missense_Mutation_p.S403N NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 403 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 GACATCCTGAGCAAGAAGCTA 0.567000 31 90 0 0 0.009535 0 0 LRCH4 4034 broad.mit.edu 37 7 100175156 100175156 + Missense_Mutation SNP G G A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr7:100175156G>A ENST00000310300.6 - 10 1194 c.1142C>T c.(1141-1143)cCt>cTt p.P381L LRCH4_ENST00000497245.1_5'UTR NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 381 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCCTGCCCCAGGGCTTAATTC 0.672000 25 91 0 0 0.004656 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52912272 52912272 + Frame_Shift_Del DEL G G - TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr1:52912272delG ENST00000371544.3 - 21 3765 c.3503delC c.(3502-3504)aafs p.T1168fs ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.T1168fs NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1168 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 CAGTTCTTCTGTTTTATCAAA 0.269 15 55 --- --- --- --- PBRM1 55193 broad.mit.edu 37 3 52692214 52692214 + Splice_Site DEL C C - TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr3:52692214delC ENST00000356770.4 - 5 648 c.e5+1 PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site Q86U86 PB1_HUMAN polybromo 1 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GCATCACTTACCACTTTAGAA 0.358 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 22 75 --- --- --- --- PDCD10 11235 broad.mit.edu 37 3 167414854 167414854 + Frame_Shift_Del DEL T T - TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr3:167414854delT ENST00000392750.2 - 5 628 c.211delA c.(211-213)gcfs p.S71fs PDCD10_ENST00000461494.1_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000487947.2_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000470131.1_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000492396.1_Frame_Shift_Del_p.S8fs|PDCD10_ENST00000471885.1_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000473645.2_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000497056.2_Frame_Shift_Del_p.S71fs NM_007217.3 NP_009148.2 Q9BUL8 PDC10_HUMAN programmed cell death 10 71 angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity cytosol|Golgi membrane|plasma membrane protein homodimerization activity|protein N-terminus binding p.S71fs*18(1) central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2) 12 ACTTCCACGCTTTTTTTCTCT 0.343 30 90 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195698244 195698246 + RNA DEL CAA CAA - TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr3:195698244_195698246delCAA ENST00000427841.1 - 0 1626_1628 NR_003264.2 CTTCCATCAGCAAATCTCAATTT 0.448 7 81 --- --- --- --- RIMS1 22999 broad.mit.edu 37 6 72960628 72960628 + Frame_Shift_Del DEL A A - TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr6:72960628delA ENST00000264839.7 + 14 2377 c.2377delA c.(2377-2379)aafs p.K793fs RIMS1_ENST00000348717.5_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000521978.1_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000518273.1_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000425662.2_Frame_Shift_Del_p.K186fs|RIMS1_ENST00000517827.1_Frame_Shift_Del_p.K252fs|RIMS1_ENST00000520567.1_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000523963.1_Frame_Shift_Del_p.K267fs|RIMS1_ENST00000517960.1_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000491071.2_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000522291.1_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000401910.3_Frame_Shift_Del_p.K267fs Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 793 C2 1. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) TTTCAGTGATAAAAGTAAAAG 0.294 2 4 --- --- --- --- ZNF395 55893 broad.mit.edu 37 8 28210125 28210126 + Frame_Shift_Del DEL CA CA - TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr8:28210125_28210126delCA ENST00000344423.5 - 6 1015_1016 c.884_885delTG c.(883-885)gfs p.V295fs ZNF395_ENST00000523202.1_Frame_Shift_Del_p.V295fs|ZNF395_ENST00000523095.1_Frame_Shift_Del_p.V295fs NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 295 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.V295V(1) cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GTTTGATGCCCACAATGGAGCG 0.564 13 71 --- --- --- --- OR1L1 26737 broad.mit.edu 37 9 125423916 125423919 + Frame_Shift_Del DEL GAGA GAGA - TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr9:125423916_125423919delGAGA ENST00000373686.1 + 1 72_75 c.72_75delGAGA c.(70-75)agfs p.RR24fs Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R25I(1) breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 AGAATAAAAGGAGAAATTTTGGAC 0.294 13 66 --- --- --- --- TRIM6 117854 broad.mit.edu 37 11 5632212 5632216 + Frame_Shift_Del DEL GGGGG GGGGG - rs10769124 byFrequency TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr11:5632212_5632216delGGGGG ENST00000380097.3 + 8 1433_1437 c.1191_1195delGGGGG c.(1189-1197)cttafs p.LGV397fs TRIM6_ENST00000506134.1_Frame_Shift_Del_p.LGV194fs|TRIM6_ENST00000507320.1_Frame_Shift_Del_p.LGV194fs|TRIM6_ENST00000481603.1_3'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_Frame_Shift_Del_p.LGV194fs|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000278302.5_Frame_Shift_Del_p.LGV369fs|TRIM6_ENST00000380107.1_Frame_Shift_Del_p.LGV343fs|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000515022.1_Frame_Shift_Del_p.LGV194fs NM_001003818.2|NM_001198644.1|NM_001198645.1 NP_001003818.1|NP_001185573.1|NP_001185574.1 tripartite motif containing 6 breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1) 22 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) CCTGGATCCTGGGGGTATGCAGCAA 0.488 37 104 --- --- --- --- CSTF3 1479 broad.mit.edu 37 11 33107506 33107506 + Frame_Shift_Del DEL C C - TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr11:33107506delC ENST00000323959.4 - 19 1964 c.1825delG c.(1825-1827)tgfs p.V609fs TCP11L1_ENST00000324357.9_Intron NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 609 Pro-rich. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 ACTGGGAACACTCCACCAGGT 0.423 7 23 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)del p.RS1367del ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 4 4 --- --- --- --- G6PC 2538 broad.mit.edu 37 17 41063346 41063346 + Frame_Shift_Del DEL C C - rs80356486 TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr17:41063346delC ENST00000253801.2 + 5 1056 c.977delC c.(976-978)tcfs p.S326fs G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 326 gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) TACGTCTTGTCCTTCTGCAAG 0.582 66 172 --- --- --- --- NBR1 4077 broad.mit.edu 37 17 41341765 41341766 + Frame_Shift_Del DEL AT AT - TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr17:41341765_41341766delAT ENST00000422280.1 + 8 1100_1101 c.641_642delAT c.(640-642)cfs p.H214fs NBR1_ENST00000589872.1_Frame_Shift_Del_p.H214fs|NBR1_ENST00000389312.4_Frame_Shift_Del_p.H214fs|NBR1_ENST00000341165.6_Frame_Shift_Del_p.H214fs|NBR1_ENST00000590996.1_Frame_Shift_Del_p.H214fs|NBR1_ENST00000542611.1_Frame_Shift_Del_p.H193fs NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 214 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) TTCAGCTGGCATATTGCTTGCA 0.465 74 198 --- --- --- --- ANKFN1 162282 broad.mit.edu 37 17 54535324 54535325 + Frame_Shift_Ins INS - - AA TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr17:54535324_54535325insAA ENST00000566473.2 + 13 1550_1551 c.1550_1551insAA c.(1549-1551)gacfs p.D517fs ANKFN1_ENST00000318698.2_Frame_Shift_Ins_p.D517fs Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 517 p.A517E(1) NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 ATGCTCGCAGCAACAGCACAGC 0.460 18 37 --- --- --- --- PLXNB2 23654 broad.mit.edu 37 22 50728367 50728370 + Frame_Shift_Del DEL TGTG TGTG - TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chr22:50728367_50728370delTGTG ENST00000449103.1 - 3 784_787 c.644_647delCACA c.(643-648)agfs p.TQ215fs PLXNB2_ENST00000359337.4_Frame_Shift_Del_p.TQ215fs O15031 PLXB2_HUMAN plexin B2 215 Sema. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CACGAACTGCTGTGTGTTGGTGGA 0.627 10 59 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76919038 76919038 + Frame_Shift_Del DEL T T - TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e5aea05-4ff2-43ea-a516-26dcef52b132 773f9a87-7513-4ac8-a8a3-833470984fb4 g.chrX:76919038delT ENST00000373344.5 - 12 4167 c.3953delA c.(3952-3954)atfs p.N1318fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.N1280fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1318 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ATTGACTTGATTTTTTGCTTC 0.353 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 13 33 --- --- --- ---