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 SHPRH 257218 broad.mit.edu 37 6 146215302 146215302 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr6:146215302C>T ENST00000367503.3 - 27 5089 c.4691G>A c.(4690-4692)cGt>cAt p.R1564H SHPRH_ENST00000438092.2_Missense_Mutation_p.R1564H|SHPRH_ENST00000275233.7_Missense_Mutation_p.R1560H|SHPRH_ENST00000367505.2_Missense_Mutation_p.R1560H NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 1560 Helicase C-terminal. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding p.R1564H(1) breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TGTCTTAACACGACTGATTTG 0.313000 6 26 0 0 0.021553 0 0 WT1 7490 broad.mit.edu 37 11 32456382 32456382 + Silent SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr11:32456382G>C ENST00000332351.3 - 1 794 c.510C>G c.(508-510)ggC>ggG p.G170G WT1_ENST00000448076.3_Silent_p.G170G NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 102 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G102G(1) EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) CTCCGGCTGTGCCAGTGAACT 0.667000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 5 19 0 0 0.014758 0 0 BTG2 7832 broad.mit.edu 37 1 203276285 203276285 + Missense_Mutation SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:203276285C>G ENST00000290551.4 + 2 267 c.196C>G c.(196-198)Cgc>Ggc p.R66G NM_006763.2 NP_006754.1 P78543 BTG2_HUMAN BTG family, member 2 66 DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.R66G(1) haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.203) CTCCGGCTACCGCTGCATTCG 0.612000 13 44 0 0 0.093190 0 0 ATAD3B 83858 broad.mit.edu 37 1 1412655 1412655 + Splice_Site SNP T T C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:1412655T>C ENST00000308647.7 + 2 323 c.205_splice c.e2-1 p.R69_splice ATAD3B_ENST00000378741.3_5'UTR NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 69 ATP binding|nucleoside-triphosphatase activity p.R69R(2) endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CGCCCGCAGGTTACGCCAAGG 0.567000 9 20 0 0 0.047766 0 0 PPRC1 23082 broad.mit.edu 37 10 103901711 103901711 + Missense_Mutation SNP C C A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr10:103901711C>A ENST00000278070.2 + 5 3485 c.3446C>A c.(3445-3447)cCa>cAa p.P1149Q PPRC1_ENST00000370012.1_Missense_Mutation_p.P116Q|PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.P1149Q NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding p.P1149Q(1) central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CTGCCTACCCCACGTACTCAG 0.572000 7 29 4.68919e-08 5.17992e-08 0.069234 1 0 SEPT12 124404 broad.mit.edu 37 16 4829784 4829784 + Nonsense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr16:4829784G>A ENST00000268231.8 - 8 993 c.730C>T c.(730-732)Cga>Tga p.R244* SEPT12_ENST00000396693.5_Nonsense_Mutation_p.R198* NM_144605.4 NP_653206.2 Q8IYM1 SEP12_HUMAN septin 12 244 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity p.R244*(1)|p.R244R(1) NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 AAAGGGATTCGGTCCTGGGAA 0.572000 21 44 0 0 0.049695 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 54 0 0 0.038147 0 0 TMEM104 54868 broad.mit.edu 37 17 72815930 72815930 + Silent SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr17:72815930C>T ENST00000335464.5 + 9 840 c.678C>T c.(676-678)gaC>gaT p.D226D TMEM104_ENST00000582330.1_Silent_p.D226D|TMEM104_ENST00000582773.1_Silent_p.D226D|TMEM104_ENST00000417024.2_Silent_p.D239D NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 226 integral to membrane p.D226D(1) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) CCTTCTTTGACGTCCAGAAGA 0.562000 20 52 0 0 0.043863 0 0 SUPT6H 6830 broad.mit.edu 37 17 27004785 27004785 + Missense_Mutation SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr17:27004785C>G ENST00000314616.6 + 8 1233 c.950C>G c.(949-951)gCt>gGt p.A317G SUPT6H_ENST00000347486.4_Missense_Mutation_p.A317G NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 317 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity p.A317G(1) NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GAAGAAGAAGCTGACTGGATC 0.458000 22 179 0 0 0.076483 0 0 ACACB 32 broad.mit.edu 37 12 109702190 109702190 + Splice_Site SNP C C A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr12:109702190C>A ENST00000338432.7 + 50 7060 c.6942_splice c.e50+1 p.S2314_splice ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Splice_Site_p.S2244_splice|ACACB_ENST00000377848.3_Splice_Site_p.S2314_splice O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2314 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.S2314Y(1) NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GGCGTCATATCTGTGAGAGCC 0.627000 OREG0022102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 34 0.115264 0.123035 0.115264 1 0 MYO15A 51168 broad.mit.edu 37 17 18063273 18063273 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr17:18063273C>T ENST00000205890.5 + 56 9666 c.9328C>T c.(9328-9330)Cgg>Tgg p.R3110W MYO15A_ENST00000451725.2_Missense_Mutation_p.R2W|MYO15A_ENST00000418233.3_Missense_Mutation_p.R374W NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 3110 MyTH4 2.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity p.R3110W(2) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TGAGGTCATGCGGGATGAATG 0.522000 3 20 0 0 0.014758 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76555040 76555040 + Nonsense_Mutation SNP C C A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr16:76555040C>A ENST00000307431.8 + 17 2751 c.2366C>A c.(2365-2367)tCa>tAa p.S789* CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.S793*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.S741*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.S717*|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 790 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding p.S789*(1)|p.S717*(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 AAAACAGGATCATTTTGGAAT 0.303000 49 93 1.35964e-18 1.59464e-18 0.139131 1 0 FAM196A 642938 broad.mit.edu 37 10 128936283 128936283 + Splice_Site SNP C C A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr10:128936283C>A ENST00000522781.1 - 6 1813 c.1256_splice c.e6-1 p.V420_splice FAM196A_ENST00000424811.2_Splice_Site_p.V396_splice|DOCK1_ENST00000280333.6_Intron NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 420 p.V420L(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TCCAGCTCCACACTAGAAAAG 0.428000 4 153 0.150653 0.157276 0.150653 1 0 ZFYVE9 9372 broad.mit.edu 37 1 52703522 52703522 + Nonsense_Mutation SNP G G T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:52703522G>T ENST00000287727.3 + 4 605 c.433G>T c.(433-435)Gag>Tag p.E145* ZFYVE9_ENST00000371591.1_Nonsense_Mutation_p.E145*|ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.E145*|ZFYVE9_ENST00000361625.1_Nonsense_Mutation_p.E145* NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 145 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity p.E145*(1) breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 TCTGCCAGATGAGAAGAATGT 0.368000 31 39 1.30897e-18 1.5544e-18 0.144211 1 0 SETDB1 9869 broad.mit.edu 37 1 150916440 150916440 + Missense_Mutation SNP A A T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:150916440A>T ENST00000271640.5 + 8 1110 c.920A>T c.(919-921)cAg>cTg p.Q307L SETDB1_ENST00000368963.1_Missense_Mutation_p.240_240insC|SETDB1_ENST00000368969.4_Missense_Mutation_p.Q307L|SETDB1_ENST00000368962.2_Missense_Mutation_p.Q307L|SETDB1_ENST00000459773.1_Intron NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 307 Tudor 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding p.Q307L(1) NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TATGTCACACAGTCGGAACTG 0.413000 16 161 0 0 0.069288 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 7 59 0 0 0.029380 0 0 GTF3C3 9330 broad.mit.edu 37 2 197629319 197629319 + Missense_Mutation SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr2:197629319G>C ENST00000263956.3 - 18 2718 c.2629C>G c.(2629-2631)Caa>Gaa p.Q877E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 877 transcription factor TFIIIC complex DNA binding|protein binding p.Q877E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 AAAAGCGTTTGAGCCATTCCG 0.453000 8 76 0 0 0.038147 0 0 HSD3B1 3283 broad.mit.edu 37 1 120050242 120050242 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:120050242C>T ENST00000235547.6 + 2 288 c.149C>T c.(148-150)tCt>tTt p.S50F HSD3B1_ENST00000528909.1_Missense_Mutation_p.S48F|HSD3B1_ENST00000369413.3_Missense_Mutation_p.S48F NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 48 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity p.S48F(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) GAGGAATTTTCTAGTAAGTAA 0.473000 48 165 0 0 0.139131 0 0 CXXC4 80319 broad.mit.edu 37 4 105412175 105412175 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr4:105412175G>A ENST00000394767.2 - 2 1235 c.785C>T c.(784-786)gCa>gTa p.A262V CXXC4_ENST00000426831.1_Missense_Mutation_p.A93V|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 93 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding p.A93V(1) kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGCTGAGGCTGCTGCGGGGGA 0.602000 23 67 0 0 0.062417 0 0 PDE11A 50940 broad.mit.edu 37 2 178969106 178969106 + Nonsense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr2:178969106G>A ENST00000358450.4 - 2 183 c.85C>T c.(85-87)Caa>Taa p.Q29* NM_001077197.1 NP_001070665.1 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 0 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.Q29*(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CCAGAGATTTGGACCAGTCTT 0.438000 Primary Pigmented Nodular Adrenocortical Disease, Familial 13 134 0 0 0.119110 0 0 TFCP2 7024 broad.mit.edu 37 12 51501052 51501052 + Silent SNP A A G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr12:51501052A>G ENST00000307660.4 - 6 1362 c.642T>C c.(640-642)taT>taC p.Y214Y TFCP2_ENST00000257915.5_Silent_p.Y265Y|TFCP2_ENST00000549867.1_Silent_p.Y265Y|TFCP2_ENST00000548115.1_Silent_p.Y214Y NM_001173453.1 NP_001166924.1 Q12800 TFCP2_HUMAN transcription factor CP2 265 DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.Y265Y(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 23 AGGAAGGCTGATATTTCTCCT 0.338000 91 190 0 0 0.139131 0 0 TSSC2 650368 broad.mit.edu 37 11 3429983 3429983 + RNA SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr11:3429983C>T ENST00000529482.1 + 0 2112 CTGCGGGAGTCGCAGCAGCTC 0.532000 9 25 0 0 0.058154 0 0 TRGV4 6977 broad.mit.edu 37 7 38393521 38393521 + RNA SNP T T A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr7:38393521T>A ENST00000390345.2 - 0 482 CCAGTGGATGTAGCCGGTACT 0.512000 18 130 0 0 0.055883 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946471 16946471 + RNA SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:16946471G>C ENST00000412962.1 - 0 1048 CGCTGCAGCTGACTCTGCAGC 0.677000 3 16 0 0 0.150653 0 0 CD248 57124 broad.mit.edu 37 11 66084240 66084240 + Missense_Mutation SNP G G T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr11:66084240G>T ENST00000311330.3 - 1 275 c.259C>A c.(259-261)Ctg>Atg p.L87M RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 87 C-type lectin. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding p.L87M(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) TGCCGCTGCAGCCCGATCCAC 0.731000 4 12 3.59834e-05 3.92922e-05 0.021553 1 0 XCL2 6846 broad.mit.edu 37 1 168510221 168510221 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:168510221G>A ENST00000367819.2 - 3 346 c.314C>T c.(313-315)tCg>tTg p.S105L NM_003175.3 NP_003166.1 Q9UBD3 XCL2_HUMAN chemokine (C motif) ligand 2 105 blood circulation|chemotaxis|immune response|signal transduction extracellular space chemokine activity p.S105L(1) large_intestine(1)|lung(6)|ovary(1) 8 all_hematologic(923;0.215) TGTATTGGTCGATTGCTGGGT 0.532000 7 69 0 0 0.029380 0 0 GABBR2 9568 broad.mit.edu 37 9 101052878 101052878 + Silent SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr9:101052878G>C ENST00000259455.2 - 19 3273 c.2814C>G c.(2812-2814)gtC>gtG p.V938V NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 938 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.V938V(1) NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) ACAGGCCCGAGACCATGACTC 0.682000 6 5 0 0 0.058154 0 0 ACACB 32 broad.mit.edu 37 12 109698352 109698352 + Silent SNP C C A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr12:109698352C>A ENST00000338432.7 + 48 6683 c.6564C>A c.(6562-6564)ccC>ccA p.P2188P ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Silent_p.P2118P|ACACB_ENST00000377848.3_Silent_p.P2188P O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2188 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.P2188P(2) NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) ACAAACAGCCCATCCTGATCT 0.537000 68 76 5.7554e-21 6.92106e-21 0.139131 1 0 SPPL3 121665 broad.mit.edu 37 12 121204115 121204115 + Missense_Mutation SNP T T C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr12:121204115T>C ENST00000353487.2 - 10 1537 c.1034A>G c.(1033-1035)tAt>tGt p.Y345C NM_139015.4 NP_620584.2 Q8TCT6 PSL4_HUMAN signal peptide peptidase like 3 346 integral to membrane aspartic-type endopeptidase activity p.Y345C(1) all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGGCACCAAATAGAGAAGGGC 0.522000 3 8 0 0 0.115264 0 0 GPRASP2 114928 broad.mit.edu 37 X 101970073 101970073 + Silent SNP A A G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chrX:101970073A>G ENST00000543253.1 + 5 1195 c.276A>G c.(274-276)ggA>ggG p.G92G GPRASP2_ENST00000332262.5_Silent_p.G92G|GPRASP2_ENST00000535209.1_Silent_p.G92G NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 p.G92G(1) breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 AGGCTCAAGGAATCACAGGGG 0.577000 17 64 0 0 0.175082 0 0 SOCS5 9655 broad.mit.edu 37 2 46986084 46986084 + Missense_Mutation SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr2:46986084G>C ENST00000306503.5 + 2 587 c.415G>C c.(415-417)Gat>Cat p.D139H SOCS5_ENST00000394861.2_Missense_Mutation_p.D139H NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 139 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth p.D139H(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) ATTGGATGCTGATAAAAAGTT 0.458000 6 59 0 0 0.038147 0 0 ADCY10 55811 broad.mit.edu 37 1 167815048 167815048 + Silent SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:167815048C>G ENST00000367848.1 - 21 2981 c.2484G>C c.(2482-2484)gtG>gtC p.V828V ADCY10_ENST00000545172.1_Silent_p.V767V|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Silent_p.V920V Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 920 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding p.V920V(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 GGCACTCGATCACCTCATTCT 0.502000 10 107 0 0 0.058154 0 0 FHOD1 29109 broad.mit.edu 37 16 67265670 67265670 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr16:67265670G>A ENST00000258201.4 - 15 2502 c.2255C>T c.(2254-2256)gCc>gTc p.A752V FHOD1_ENST00000567687.1_Missense_Mutation_p.A331V NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 752 FH2.|Interaction with ROCK1. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding p.A752V(1) breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GGCCAGCTGGGCTTCCTCAAT 0.602000 6 19 0 0 0.038147 0 0 TUBD1 51174 broad.mit.edu 37 17 57968194 57968194 + Missense_Mutation SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr17:57968194C>G ENST00000325752.3 - 2 447 c.170G>C c.(169-171)gGa>gCa p.G57A TUBD1_ENST00000592426.1_Missense_Mutation_p.G57A|TUBD1_ENST00000376094.4_Missense_Mutation_p.G57A|TUBD1_ENST00000346141.6_Missense_Mutation_p.G57A|TUBD1_ENST00000340993.6_Missense_Mutation_p.G57A|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.G57A NM_016261.3 NP_057345.2 Q9UJT1 TBD_HUMAN tubulin, delta 1 57 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity p.G57A(1) NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) ACACCTACCTCCATTCTCCTC 0.478000 16 138 0 0 0.043863 0 0 TACC2 10579 broad.mit.edu 37 10 123970013 123970013 + Translation_Start_Site SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr10:123970013G>A ENST00000369000.1 + 0 794 TACC2_ENST00000369004.3_Missense_Mutation_p.D103N|TACC2_ENST00000515603.1_Missense_Mutation_p.D1980N|TACC2_ENST00000360561.3_Missense_Mutation_p.D103N|TACC2_ENST00000513429.1_Missense_Mutation_p.D171N|TACC2_ENST00000358010.1_Missense_Mutation_p.D171N|TACC2_ENST00000369005.1_Missense_Mutation_p.D2025N|TACC2_ENST00000453444.2_Missense_Mutation_p.D2029N|TACC2_ENST00000368999.1_Missense_Mutation_p.D103N|TACC2_ENST00000334433.3_Missense_Mutation_p.D2025N|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000369001.1_De_novo_Start_OutOfFrame|TACC2_ENST00000260733.3_Missense_Mutation_p.D103N|TACC2_ENST00000515273.1_Missense_Mutation_p.D2029N O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 microtubule organizing center|nucleus nuclear hormone receptor binding p.D2025H(2)|p.D2025N(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGCCGTCTTCGATGAAGACAA 0.552000 4 26 0 0 0.150653 0 0 RIC8A 60626 broad.mit.edu 37 11 211339 211339 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr11:211339G>A ENST00000526104.1 + 5 2303 c.959G>A c.(958-960)cGt>cAt p.R320H RIC8A_ENST00000325207.5_Missense_Mutation_p.R320H|RIC8A_ENST00000527696.1_Missense_Mutation_p.R314H Q9NPQ8 RIC8A_HUMAN RIC8 guanine nucleotide exchange factor A 320 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity p.R320H(1) endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) CTAGAGAAGCGTTTGCACAAG 0.562000 3 32 0 0 0.115264 0 0 FAT1 2195 broad.mit.edu 37 4 187521354 187521354 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr4:187521354G>A ENST00000441802.2 - 22 12010 c.11801C>T c.(11800-11802)tCg>tTg p.S3934L NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3934 Laminin G-like. 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.S3934L(1)|p.S3937L(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 GGCTGTGCCCGATGCAGTATG 0.517000 HNSCC(5;0.00058) 3 46 0 0 0.115264 0 0 IGSF22 283284 broad.mit.edu 37 11 18737204 18737204 + Missense_Mutation SNP C C T rs142049851 by1000genomes TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr11:18737204C>T ENST00000513874.1 - 11 1445 c.1306G>A c.(1306-1308)Gca>Aca p.A436T RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 436 Ig-like 3. p.A436T(2) NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 TCCAGGCATGCGCGACTCCTC 0.527000 4 81 0 0 0.150653 0 0 ZNF548 147694 broad.mit.edu 37 19 57910809 57910809 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr19:57910809G>A ENST00000366197.5 + 3 1404 c.1154G>A c.(1153-1155)aGa>aAa p.R385K AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.R397K|AC003002.6_ENST00000600421.1_Intron NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R397K(1) breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAACATTGGAGAAATCACACT 0.438000 3 56 0 0 0.115264 0 0 SSX7 280658 broad.mit.edu 37 X 52682498 52682498 + Missense_Mutation SNP T T C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chrX:52682498T>C ENST00000298181.5 - 2 183 c.25A>G c.(25-27)Agg>Ggg p.R9G NM_173358.2 NP_775494.1 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding p.R9G(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1) 16 Ovarian(276;0.236) CTAGGTCTCCTTGCAAAGGCG 0.567000 8 146 0 0 0.047766 0 0 C1orf112 55732 broad.mit.edu 37 1 169816906 169816906 + Missense_Mutation SNP T T G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:169816906T>G ENST00000286031.6 + 20 2720 c.2020T>G c.(2020-2022)Tct>Gct p.S674A C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.S674A NM_018186.2 NP_060656.2 Q9NSG2 CA112_HUMAN chromosome 1 open reading frame 112 674 p.S674A(1) breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGATTTTGTATCTTCTTTAGG 0.343000 6 236 0 0 0.029380 0 0 CARD11 84433 broad.mit.edu 37 7 2968322 2968322 + Missense_Mutation SNP C C A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr7:2968322C>A ENST00000396946.4 - 13 2067 c.1664G>T c.(1663-1665)cGg>cTg p.R555L NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 555 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.R548L(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GCTGCGGCTCCGGGGGGGCTG 0.587000 Mis DLBCL 3 82 0.115264 0.123035 0.115264 1 0 CADPS2 93664 broad.mit.edu 37 7 122091483 122091483 + Missense_Mutation SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr7:122091483C>G ENST00000334010.7 - 14 2657 c.2236G>C c.(2236-2238)Gag>Cag p.E746Q CADPS2_ENST00000449022.2_Missense_Mutation_p.E745Q|CADPS2_ENST00000313070.7_Missense_Mutation_p.E742Q|CADPS2_ENST00000412584.2_Missense_Mutation_p.E742Q NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 745 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding p.E745Q(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TTTATCTCCTCAAATCTTTCT 0.274000 3 57 0 0 0.115264 0 0 AKAP9 10142 broad.mit.edu 37 7 91712538 91712538 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr7:91712538C>T ENST00000359028.2 + 34 8476 c.8251C>T c.(8251-8253)Cac>Tac p.H2751Y AKAP9_ENST00000358100.2_Missense_Mutation_p.H2751Y|AKAP9_ENST00000356239.3_Missense_Mutation_p.H2739Y Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2751 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding p.H2739Y(1)|p.H2751Y(1) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGTTAGGGATCACCTCGCAGA 0.373000 T BRAF papillary thyroid 13 87 0 0 0.093190 0 0 UACA 55075 broad.mit.edu 37 15 70960850 70960850 + Missense_Mutation SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr15:70960850C>G ENST00000322954.6 - 16 2358 c.2173G>C c.(2173-2175)Gat>Cat p.D725H UACA_ENST00000379983.2_Missense_Mutation_p.D712H|UACA_ENST00000539319.1_Missense_Mutation_p.D616H|UACA_ENST00000560441.1_Missense_Mutation_p.D710H NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 725 cytoskeleton|extracellular region p.D725H(1)|p.D712H(1) breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 AGCTTATTATCCAAATAAACT 0.318000 11 84 0 0 0.069234 0 0 ORAI2 80228 broad.mit.edu 37 7 102087127 102087127 + Silent SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr7:102087127G>A ENST00000356387.2 + 4 628 c.393G>A c.(391-393)ctG>ctA p.L131L ORAI2_ENST00000473939.1_Silent_p.L131L|ORAI2_ENST00000403646.3_Silent_p.L131L|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000478730.1_Silent_p.L131L NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 131 integral to membrane protein binding p.L131L(1) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 TCCACAACCTGAACTCCATCA 0.637000 12 123 0 0 0.093190 0 0 ZNF451 26036 broad.mit.edu 37 6 57006175 57006175 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr6:57006175C>T ENST00000370706.4 + 8 1022 c.778C>T c.(778-780)Ctt>Ttt p.L260F RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.L260F|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.L260F|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.L260F(2) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AAATTGCTTCCTTCTTTTTAG 0.373000 7 32 0 0 0.029380 0 0 ESRRG 2104 broad.mit.edu 37 1 216824404 216824404 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:216824404G>A ENST00000391890.3 - 5 948 c.431C>T c.(430-432)aCg>aTg p.T144M ESRRG_ENST00000493603.1_Missense_Mutation_p.T144M|ESRRG_ENST00000361395.2_Missense_Mutation_p.T144M|ESRRG_ENST00000366937.1_Missense_Mutation_p.T172M|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000360012.3_Missense_Mutation_p.T144M|ESRRG_ENST00000366940.2_Missense_Mutation_p.T144M|ESRRG_ENST00000361525.3_Missense_Mutation_p.T144M|ESRRG_ENST00000493748.1_Missense_Mutation_p.T144M|ESRRG_ENST00000408911.3_Missense_Mutation_p.T167M|ESRRG_ENST00000359162.2_Missense_Mutation_p.T144M|ESRRG_ENST00000487276.1_Missense_Mutation_p.T144M|ESRRG_ENST00000366938.2_Missense_Mutation_p.T144M NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 167 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.T167M(1) endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) ACATTCATTCGTGGCAGGGCA 0.418000 29 103 0 0 0.144211 0 0 EML4 27436 broad.mit.edu 37 2 42488319 42488319 + Missense_Mutation SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr2:42488319C>G ENST00000318522.5 + 4 659 c.397C>G c.(397-399)Cat>Gat p.H133D EML4_ENST00000402711.2_Intron|EML4_ENST00000401738.3_Missense_Mutation_p.H133D NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 133 microtubule-based process|mitosis cytoplasm|microtubule protein binding p.H133D(1) EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 agaggaaTCTCATTCTAATGA 0.368000 T ALK NSCLC 5 67 0 0 0.014758 0 0 COA6 388753 broad.mit.edu 37 1 234509420 234509420 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:234509420G>A ENST00000366615.4 + 1 219 c.208G>A c.(208-210)Gag>Aag p.E70K NM_001206641.1 NP_001193570.1 cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae) TGGGCGGGCAGAGAGGTCGGC 0.682000 17 231 0 0 0.069288 0 0 FOXB2 442425 broad.mit.edu 37 9 79635526 79635526 + Missense_Mutation SNP T T C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr9:79635526T>C ENST00000376708.1 + 1 956 c.956T>C c.(955-957)gTc>gCc p.V319A NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 319 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.V319A(2)|p.V185A(1) breast(1)|lung(8)|ovary(1) 10 CACGTTGGCGTCATGGATTCG 0.721000 2 7 0 0 0.115264 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418451 105418451 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr14:105418451G>A ENST00000333244.5 - 7 3456 c.3337C>T c.(3337-3339)Ccc>Tcc p.P1113S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1113 nucleus p.P1113S(1) 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) TCCGCCTTGGGGCTTTTCAGG 0.647000 45 226 0 0 0.131918 0 0 NLRC4 58484 broad.mit.edu 37 2 32476011 32476011 + Missense_Mutation SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr2:32476011G>C ENST00000404025.2 - 5 1410 c.922C>G c.(922-924)Ctc>Gtc p.L308V NLRC4_ENST00000360906.5_Missense_Mutation_p.L308V|NLRC4_ENST00000402280.1_Missense_Mutation_p.L308V|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 308 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity p.L308V(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TCTCGGATGAGAGCCTGGGCG 0.532000 5 64 0 0 0.014758 0 0 OR5M1 390168 broad.mit.edu 37 11 56380559 56380559 + Silent SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr11:56380559G>A ENST00000526538.1 - 1 419 c.420C>T c.(418-420)atC>atT p.I140I NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I140I(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 GACAGACACAGATGTTCTTGG 0.448000 11 56 0 0 0.080935 0 0 PAN3 255967 broad.mit.edu 37 13 28855451 28855451 + Splice_Site SNP G G T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr13:28855451G>T ENST00000399613.1 + 16 1782 c.e16-1 PAN3_ENST00000282391.5_Splice_Site|PAN3_ENST00000380958.3_Splice_Site Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity p.?(2) endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) ATGTTTTATAGGAGGTTCAAA 0.303000 11 42 1.5842e-08 1.77058e-08 0.105934 1 0 FCGR3A 2214 broad.mit.edu 37 1 161512867 161512867 + Nonsense_Mutation SNP G G A rs1042207 byFrequency TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:161512867G>A ENST00000367969.3 - 5 991 c.808C>T c.(808-810)Cga>Tga p.R270* FCGR3A_ENST00000436743.1_Nonsense_Mutation_p.R234*|FCGR3A_ENST00000443193.1_Nonsense_Mutation_p.R269*|FCGR3A_ENST00000540048.1_Nonsense_Mutation_p.R234* NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 234 immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity p.R270*(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GTTGAGCTTCGAATGTTTGTC 0.443000 5 267 0 0 0.014758 0 0 ATRX 546 broad.mit.edu 37 X 76874343 76874343 + Silent SNP G G T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chrX:76874343G>T ENST00000373344.5 - 21 5593 c.5379C>A c.(5377-5379)acC>acA p.T1793T ATRX_ENST00000395603.3_Silent_p.T1755T|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1793 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.T1793T(2)|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) CATCTACCATGGTAGAATCTG 0.328000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 4 78 0.150653 0.157276 0.150653 1 0 UACA 55075 broad.mit.edu 37 15 70961012 70961012 + Missense_Mutation SNP G G T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr15:70961012G>T ENST00000322954.6 - 16 2196 c.2011C>A c.(2011-2013)Ctt>Att p.L671I UACA_ENST00000379983.2_Missense_Mutation_p.L658I|UACA_ENST00000539319.1_Missense_Mutation_p.L562I|UACA_ENST00000560441.1_Missense_Mutation_p.L656I NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 671 cytoskeleton|extracellular region p.L671I(1)|p.L658I(1) breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 ACATTCTCAAGTTCTCTCTTT 0.358000 22 97 2.44723e-14 2.83521e-14 0.099896 1 0 TRPM6 140803 broad.mit.edu 37 9 77339635 77339635 + Missense_Mutation SNP T T C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr9:77339635T>C ENST00000451710.3 - 38 6212 c.5975A>G c.(5974-5976)gAa>gGa p.E1992G TRPM6_ENST00000449912.2_Missense_Mutation_p.E1983G|TRPM6_ENST00000376871.3_Missense_Mutation_p.E825G|TRPM6_ENST00000376872.3_Missense_Mutation_p.E943G|TRPM6_ENST00000361255.3_Missense_Mutation_p.E1983G|TRPM6_ENST00000360774.1_Missense_Mutation_p.E1988G Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1988 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.E1988G(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 ATTTATCCTTTCAGGGGAATA 0.408000 15 91 0 0 0.132662 0 0 KBTBD4 55709 broad.mit.edu 37 11 47599133 47599133 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr11:47599133C>T ENST00000533290.1 - 1 1208 c.494G>A c.(493-495)cGc>cAc p.R165H KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Missense_Mutation_p.R140H|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 140 BACK. p.R140H(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 24 TTGCACTGTGCGGGCCAAAAA 0.517000 4 171 0 0 0.029380 0 0 VCP 7415 broad.mit.edu 37 9 35059603 35059603 + Missense_Mutation SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr9:35059603G>C ENST00000358901.6 - 14 2786 c.1891C>G c.(1891-1893)Cct>Gct p.P631A NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 631 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding p.P631A(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AGGATGGCAGGATCAATGATG 0.502000 7 51 0 0 0.047766 0 0 PRDM15 63977 broad.mit.edu 37 21 43274737 43274737 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr21:43274737G>A ENST00000422911.1 - 5 688 c.587C>T c.(586-588)gCg>gTg p.A196V PRDM15_ENST00000447207.2_Missense_Mutation_p.A159V|PRDM15_ENST00000269844.3_Missense_Mutation_p.A525V|PRDM15_ENST00000398548.1_Missense_Mutation_p.A196V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A159V P57071 PRD15_HUMAN PR domain containing 15 525 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A525V(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 ATAGAAGGCCGCATACCACAC 0.647000 4 97 0 0 0.150653 0 0 SSH2 85464 broad.mit.edu 37 17 27993938 27993938 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr17:27993938C>T ENST00000269033.3 - 10 1049 c.898G>A c.(898-900)Gtg>Atg p.V300M RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.V327M NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 300 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.V300M(1) SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCAAGGATCACTATCATTTCA 0.383000 34 169 0 0 0.173368 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr17:39274415C>T ENST00000391413.2 - 1 191 c.153G>A c.(151-153)agG>agA p.R51R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51R(6) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667000 5 48 0 0 0.021553 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43577778 43577778 + Silent SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr18:43577778C>G ENST00000409746.5 - 9 650 c.579G>C c.(577-579)ctG>ctC p.L193L PSTPIP2_ENST00000589328.1_Silent_p.L193L|PSTPIP2_ENST00000588801.1_Intron NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 193 membrane p.H194Y(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 TGCCGATGTGCAGCATGTATG 0.572000 28 33 0 0 0.144211 0 0 MUC5B 727897 broad.mit.edu 37 11 1278885 1278885 + Silent SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr11:1278885C>T ENST00000447027.1 + 41 16462 c.16404C>T c.(16402-16404)ttC>ttT p.F5468F MUC5B_ENST00000529681.1_Silent_p.F5465F Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 5465 VWFC 2. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.F5420F(1)|p.F5465F(1) 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) GTCCCGGCTTCGTAACCGTGA 0.697000 3 4 0 0 0.115264 0 0 AKAP6 9472 broad.mit.edu 37 14 33015676 33015676 + Missense_Mutation SNP G G T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr14:33015676G>T ENST00000280979.4 + 4 1987 c.1817G>T c.(1816-1818)gGt>gTt p.G606V AKAP6_ENST00000557272.1_Missense_Mutation_p.G606V|AKAP6_ENST00000557354.1_Missense_Mutation_p.G606V NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 606 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding p.G606V(1) NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AGCAAAAAAGGTCAAGCCTCC 0.488000 12 90 1.61879e-10 1.83078e-10 0.093190 1 0 AQP9 366 broad.mit.edu 37 15 58467128 58467128 + Missense_Mutation SNP T T A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr15:58467128T>A ENST00000219919.4 + 4 758 c.388T>A c.(388-390)Tcc>Acc p.S130T AQP9_ENST00000558772.1_Missense_Mutation_p.S65T|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.S130T NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 130 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity p.S130T(1) endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) TGGACTTATGTCCTTTGCTGG 0.478000 9 47 0 0 0.058154 0 0 KRT71 112802 broad.mit.edu 37 12 52942007 52942007 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr12:52942007C>T ENST00000267119.5 - 5 976 c.907G>A c.(907-909)Gaa>Aaa p.E303K NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 303 Coil 2.|Rod. structural molecule activity p.E303K(2) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) GTGCGGACTTCGTCAATGATG 0.567000 10 85 0 0 0.058154 0 0 KCNA1 3736 broad.mit.edu 37 12 5021828 5021828 + Silent SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr12:5021828C>T ENST00000382545.3 + 2 2391 c.1284C>T c.(1282-1284)ctC>ctT p.L428L KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 428 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity p.L428L(1) NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTCAGTTGCTCCACGTCAGTT 0.502000 6 317 0 0 0.021553 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14752603 14752603 + Missense_Mutation SNP A A T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr18:14752603A>T ENST00000358984.4 + 2 440 c.260A>T c.(259-261)gAa>gTa p.E87V ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E87V NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 87 p.E87V(2) breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 GGCCATGCAGAAGTAGTAACA 0.453000 3 15 0 0 0.150653 0 0 FRYL 285527 broad.mit.edu 37 4 48542536 48542536 + Silent SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr4:48542536C>T ENST00000358350.4 - 46 6733 c.6129G>A c.(6127-6129)aaG>aaA p.K2043K FRYL_ENST00000503238.1_Silent_p.K2043K|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Silent_p.K2043K NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 2043 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.K2043K(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 CATTTTCAATCTTCTCTCGAC 0.383000 9 97 0 0 0.058154 0 0 B4GALNT3 283358 broad.mit.edu 37 12 665822 665822 + Missense_Mutation SNP C C T rs145153320 byFrequency TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr12:665822C>T ENST00000266383.5 + 15 2183 c.2170C>T c.(2170-2172)Cgg>Tgg p.R724W NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 724 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity p.R724W(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) GCGCGTGGTGCGGCTCTCGGA 0.632000 3 38 0 0 0.115264 0 0 SMTN 6525 broad.mit.edu 37 22 31492754 31492754 + Missense_Mutation SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr22:31492754G>C ENST00000333137.7 + 14 2115 c.1897G>C c.(1897-1899)Gag>Cag p.E633Q SMTN_ENST00000404574.1_Intron|SMTN_ENST00000358743.1_Missense_Mutation_p.E633Q|SMTN_ENST00000347557.2_Missense_Mutation_p.E633Q NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 633 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle p.E633Q(2)|p.E656Q(1) breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 GCGGCTGCAGGAGGCACGGGG 0.677000 12 54 0 0 0.132662 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43577777 43577777 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr18:43577777G>A ENST00000409746.5 - 9 651 c.580C>T c.(580-582)Cac>Tac p.H194Y PSTPIP2_ENST00000589328.1_Missense_Mutation_p.H194Y|PSTPIP2_ENST00000588801.1_Intron NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 194 membrane p.H194Y(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 GTGCCGATGTGCAGCATGTAT 0.572000 28 35 0 0 0.144211 0 0 SERPINB7 8710 broad.mit.edu 37 18 61465845 61465845 + Missense_Mutation SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr18:61465845C>G ENST00000398019.2 + 6 787 c.462C>G c.(460-462)atC>atG p.I154M SERPINB7_ENST00000336429.2_Missense_Mutation_p.I154M|SERPINB7_ENST00000540675.1_Missense_Mutation_p.I137M|SERPINB7_ENST00000546027.1_Missense_Mutation_p.I154M NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 154 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity p.I154M(1) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) AAGGCAAAATCAAGAACGTGA 0.328000 9 80 0 0 0.047766 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d 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 60 0 0 0.115264 0 0 XKR5 389610 broad.mit.edu 37 8 6679301 6679302 + RNA DEL CA CA - TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr8:6679301_6679302delCA ENST00000518724.1 - 0 958 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TGCATTGGTGcacacacacaca 0.401 2 4 --- --- --- --- RP11-89K10.1 0 broad.mit.edu 37 8 127595300 127595311 + RNA DEL GCCACAGAGGCT GCCACAGAGGCT - TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr8:127595300_127595311delGCCACAGAGGCT ENST00000519880.1 + 0 57 RP11-89K10.1_ENST00000517773.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA CCACAATGGAGCCACAGAGGCTGGGCCTCTAG 0.453 8 10 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 7 2 --- --- --- --- ERBB2 2064 broad.mit.edu 37 17 37880997 37880998 + In_Frame_Ins INS - - TCT rs144434331 TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr17:37880997_37880998insTCT ENST00000406381.2 + 22 2746_2747 c.2236_2237insTCT c.(2236-2238)tgt>TCTtgt p.745_746insS ERBB2_ENST00000445658.2_In_Frame_Ins_p.499_500insS|ERBB2_ENST00000541774.1_In_Frame_Ins_p.760_761insS|ERBB2_ENST00000540147.1_In_Frame_Ins_p.745_746insS|ERBB2_ENST00000269571.5_In_Frame_Ins_p.775_776insS|ERBB2_ENST00000584601.1_In_Frame_Ins_p.745_746insS|ERBB2_ENST00000584450.1_In_Frame_Ins_p.775_776insS NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 775 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A775_G776insYVMA(10)|p.G776>VC(9)|p.G776>LC(3)|p.G776V(2)|p.G776S(2)|p.G776C(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CGTGATGGCTGGTGTGGGCTCC 0.579 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 16 53 --- --- --- ---