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 MAST2 23139 broad.mit.edu 37 1 46493409 46493409 + Silent SNP A A T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:46493409A>T ENST00000361297.2 + 17 2209 c.1926A>T c.(1924-1926)ctA>ctT p.L642L MAST2_ENST00000372008.1_Silent_p.L527L|MAST2_ENST00000372009.2_Silent_p.L572L NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 642 Protein kinase. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity p.L642L(1) breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CCAGCCTCCTAATTACATCCA 0.423000 29 69 0 0 0.001786 0 0 DNAH2 146754 broad.mit.edu 37 17 7680786 7680786 + Nonsense_Mutation SNP C C G TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr17:7680786C>G ENST00000572933.1 + 33 6541 c.5081C>G c.(5080-5082)tCa>tGa p.S1694* DNAH2_ENST00000389173.2_Nonsense_Mutation_p.S1694* Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1694 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.S1694*(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AATAAGTATTCAGAAGCCATC 0.507000 30 378 0 0 0.002836 0 0 PARP14 54625 broad.mit.edu 37 3 122418827 122418827 + Missense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr3:122418827G>A ENST00000474629.2 + 6 1692 c.1426G>A c.(1426-1428)Ggc>Agc p.G476S NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 476 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity p.G313S(1)|p.G476S(1) NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) CATTTCTCCAGGCAGGTATTT 0.398000 10 58 0 0 0.006214 0 0 DNAH9 1770 broad.mit.edu 37 17 11572560 11572560 + Missense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr17:11572560G>A ENST00000262442.3 + 16 2979 c.2911G>A c.(2911-2913)Ggc>Agc p.G971S DNAH9_ENST00000454412.2_Missense_Mutation_p.G971S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 971 Stem (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 p.G971S(1) 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) CCCACAAAATGGCTCTCCTCA 0.542000 5 125 0 0 0.003080 0 0 ABCA5 23461 broad.mit.edu 37 17 67252297 67252297 + Splice_Site SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr17:67252297C>T ENST00000392676.3 - 29 3923 c.e29+1 ABCA5_ENST00000392677.2_Splice_Site|ABCA5_ENST00000588877.1_Splice_Site Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity p.?(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) GAATAAATTACCTCCTCACAA 0.353000 7 134 0 0 0.003080 0 0 PPIL4 85313 broad.mit.edu 37 6 149826610 149826610 + Missense_Mutation SNP T T C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr6:149826610T>C ENST00000340881.2 - 3 889 c.356A>G c.(355-357)aAg>aGg p.K119R PPIL4_ENST00000253329.2_Silent_p.K486K Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase (cyclophilin)-like 4 483 PPIase cyclophilin-type. protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding p.K486K(1) endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 13 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) TAGATTTTTCTTTATCTTTGG 0.338000 14 95 0 0 0.001855 0 0 CEP290 80184 broad.mit.edu 37 12 88514920 88514920 + Missense_Mutation SNP T T C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr12:88514920T>C ENST00000552810.1 - 14 1556 c.1213A>G c.(1213-1215)Act>Gct p.T405A CEP290_ENST00000309041.7_Missense_Mutation_p.T405A|CEP290_ENST00000397838.3_5'UTR NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 405 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding p.T405A(2) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TTCATATGAGTCTGTTGAGAA 0.383000 3 43 0 0 0.004672 0 0 JAK1 3716 broad.mit.edu 37 1 65301865 65301865 + Missense_Mutation SNP A A C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:65301865A>C ENST00000342505.4 - 23 3422 c.3174T>G c.(3172-3174)ttT>ttG p.F1058L NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 1058 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.F1058L(1) breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) AGGCAATATAAAATTTAGATT 0.423000 Mis ALL 3 35 0 0 0.004672 0 0 PRKCB 5579 broad.mit.edu 37 16 24104205 24104205 + Missense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr16:24104205G>A ENST00000303531.7 + 6 775 c.623G>A c.(622-624)aGc>aAc p.S208N PRKCB_ENST00000321728.7_Missense_Mutation_p.S208N|PRKCB_ENST00000482000.1_3'UTR NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 208 C2. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding p.S208N(3) central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AAAAGTGAGAGCAAACAGAAG 0.443000 9 104 0 0 0.008291 0 0 WWC2 80014 broad.mit.edu 37 4 184182184 184182184 + Missense_Mutation SNP T T C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr4:184182184T>C ENST00000403733.3 + 11 1607 c.1408T>C c.(1408-1410)Tat>Cat p.Y470H WWC2_ENST00000513834.1_Missense_Mutation_p.Y470H|WWC2_ENST00000378925.3_Missense_Mutation_p.Y372H|WWC2_ENST00000504005.1_Missense_Mutation_p.Y152H|WWC2_ENST00000448232.2_Missense_Mutation_p.Y470H NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 470 Ser-rich. p.Y470H(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) CACCGAACTCTATTACAGCAG 0.502000 3 55 0 0 0.004672 0 0 ACACB 32 broad.mit.edu 37 12 109639448 109639448 + Missense_Mutation SNP T T A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr12:109639448T>A ENST00000338432.7 + 19 2974 c.2855T>A c.(2854-2856)cTg>cAg p.L952Q ACACB_ENST00000377854.5_Missense_Mutation_p.L952Q|ACACB_ENST00000377848.3_Missense_Mutation_p.L952Q O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 952 Biotinyl-binding. 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.L952Q(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) GGTGCCGTGCTGGAAGCAGGC 0.552000 7 79 0 0 0.003080 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 9 63 0 0 0.006214 0 0 ZNF33A 7581 broad.mit.edu 37 10 38345420 38345420 + Missense_Mutation SNP A A T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr10:38345420A>T ENST00000374618.3 + 5 2546 c.2368A>T c.(2368-2370)Agc>Tgc p.S790C ZNF33A_ENST00000307441.9_Missense_Mutation_p.S789C|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Missense_Mutation_p.S789C|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S796C NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 789 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S789C(1) cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 GCCACAAGTCAGCCTCCATAA 0.378000 16 59 0 0 0.003163 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45993895 45993895 + Missense_Mutation SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr21:45993895C>T ENST00000400374.3 + 1 290 c.260C>T c.(259-261)cCc>cTc p.P87L TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 87 36 X 5 AA repeats of C-C-X(3). keratin filament p.P87L(1) NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 TCCTGCACGCCCTCGTGCTGC 0.682000 16 85 0 0 0.007413 0 0 JAK1 3716 broad.mit.edu 37 1 65300335 65300335 + Nonsense_Mutation SNP A A C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:65300335A>C ENST00000342505.4 - 25 3623 c.3375T>G c.(3373-3375)taT>taG p.Y1125* NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 1125 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.Y1125*(1) breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCATAAGTTGATAAACCTGTA 0.303000 Mis ALL 3 66 0 0 0.004672 0 0 JMJD4 65094 broad.mit.edu 37 1 227920349 227920349 + Missense_Mutation SNP T T G TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:227920349T>G ENST00000366758.3 - 6 1135 c.1136A>C c.(1135-1137)aAc>aCc p.N379T JMJD4_ENST00000438896.2_Missense_Mutation_p.N363T|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000480897.1_3'UTR NM_023007.2 NP_075383.2 Q9H9V9 JMJD4_HUMAN jumonji domain containing 4 379 p.N379T(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 9 Prostate(94;0.0885) CTCTTCAAAGTTGATGCCCGA 0.572000 8 36 0 0 0.003080 0 0 FCAMR 83953 broad.mit.edu 37 1 207133044 207133044 + Missense_Mutation SNP T T C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:207133044T>C ENST00000324852.4 - 7 2027 c.1553A>G c.(1552-1554)aAg>aGg p.K518R FCAMR_ENST00000400962.3_Missense_Mutation_p.S251G|FCAMR_ENST00000450945.2_Missense_Mutation_p.S251G|FCAMR_ENST00000486178.1_5'UTR NM_001170631.1 NP_001164102.1 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity 473 integral to membrane|plasma membrane receptor activity p.S251G(1) endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1) 11 TCTCCAGAGCTTCCTTTGCAA 0.527000 37 151 0 0 0.005524 0 0 KLF4 9314 broad.mit.edu 37 9 110249346 110249346 + Missense_Mutation SNP C C G TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr9:110249346C>G ENST00000374672.4 - 4 1700 c.1227G>C c.(1225-1227)aaG>aaC p.K409N NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 443 Pro-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.K409N(1)|p.K400N(1) breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 GATGGGAACTCTTTGTGTAGG 0.592000 12 192 0 0 0.001855 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 5 50 0 0 0.000602 0 0 CLDN12 9069 broad.mit.edu 37 7 90042673 90042673 + Missense_Mutation SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr7:90042673C>T ENST00000535571.1 + 2 992 c.683C>T c.(682-684)tCt>tTt p.S228F CLDN12_ENST00000394605.2_Missense_Mutation_p.S228F|CLDN12_ENST00000287916.4_Missense_Mutation_p.S228F NM_001185072.2 NP_001172001.1 P56749 CLD12_HUMAN claudin 12 228 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity p.S228F(1) breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2) 15 TCAGCACGCTCTCGCCTCTCT 0.423000 40 145 0 0 0.006999 0 0 ABCB1 5243 broad.mit.edu 37 7 87179322 87179322 + Missense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr7:87179322G>A ENST00000265724.3 - 14 1816 c.1399C>T c.(1399-1401)Cgg>Tgg p.R467W ABCB1_ENST00000543898.1_Missense_Mutation_p.R403W NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 467 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity p.R467W(4) NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ATGATTTCCCGTAGAAACCTT 0.408000 9 121 0 0 0.004482 0 0 CCDC144A 9720 broad.mit.edu 37 17 16594036 16594036 + Missense_Mutation SNP G G T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr17:16594036G>T ENST00000443444.2 + 1 462 c.322G>T c.(322-324)Gac>Tac p.D108Y RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D108Y|CCDC144A_ENST00000456009.1_Missense_Mutation_p.D108Y|CCDC144A_ENST00000340621.5_Missense_Mutation_p.D108Y|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D108Y|CCDC144A_ENST00000360524.8_Missense_Mutation_p.D108Y A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 108 p.D108Y(1) CACTGGCGTGGACAAGAGGGA 0.657000 27 245 1.77063e-15 3.17128e-15 0.005443 1 0 EXOC2 55770 broad.mit.edu 37 6 497413 497413 + Missense_Mutation SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr6:497413C>T ENST00000230449.4 - 25 2648 c.2513G>A c.(2512-2514)cGa>cAa p.R838Q EXOC2_ENST00000448181.3_Missense_Mutation_p.R433Q NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 838 exocytosis|protein transport p.R838Q(1) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) CTGCATCAGTCGACTGAGCTC 0.388000 22 90 0 0 0.002780 0 0 AHCTF1 25909 broad.mit.edu 37 1 247014376 247014376 + Silent SNP G G C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:247014376G>C ENST00000366508.1 - 33 5173 c.5037C>G c.(5035-5037)gcC>gcG p.A1679A AHCTF1_ENST00000391829.2_Silent_p.A1644A|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.A1653A Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1644 Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding p.A1644A(1)|p.A1653A(1) NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CACTAGTTACGGCAGATGGCA 0.363000 7 164 0 0 0.001984 0 0 FLII 2314 broad.mit.edu 37 17 18151872 18151872 + Missense_Mutation SNP G G C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr17:18151872G>C ENST00000327031.4 - 18 2407 c.2182C>G c.(2182-2184)Ctg>Gtg p.L728V FLII_ENST00000579294.1_Missense_Mutation_p.L717V|FLII_ENST00000545457.2_Missense_Mutation_p.L673V|FLII_ENST00000379450.4_Missense_Mutation_p.L642V|FLII_ENST00000578558.1_Intron NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 728 Interaction with ACTL6A. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding p.L728V(1) central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) ACCTTGTACAGCTTGGGCTGC 0.622000 OREG0024225 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 61 0 0 0.001984 0 0 KRT24 192666 broad.mit.edu 37 17 38855747 38855747 + Missense_Mutation SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr17:38855747C>A ENST00000264651.2 - 6 1366 c.1310G>T c.(1309-1311)cGc>cTc p.R437L NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 437 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity p.R437L(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) CACCTCCAGGCGTGTCTTGAT 0.502000 30 158 4.74835e-14 8.37945e-14 0.002096 1 0 CHEK2P2 0 broad.mit.edu 37 15 20496770 20496770 + RNA SNP T T C rs3865047 by1000genomes TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr15:20496770T>C ENST00000555186.1 + 0 823 NR_038836.1 TTATAGTGTGTATTTTAATTA 0.353000 7 30 0 0 0.001984 0 0 STK32C 282974 broad.mit.edu 37 10 134145147 134145147 + Missense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr10:134145147G>A ENST00000368625.4 - 1 179 c.94C>T c.(94-96)Ctt>Ttt p.L32F Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 0 ATP binding|metal ion binding|protein serine/threonine kinase activity p.L32F(1) breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1) 23 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) CCGCTCCAAAGGTGGTGCCTC 0.682000 21 41 0 0 0.002299 0 0 AOC1 26 broad.mit.edu 37 7 150554114 150554114 + Missense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr7:150554114G>A ENST00000493429.1 + 4 1140 c.556G>A c.(556-558)Gat>Aat p.D186N AOC1_ENST00000416793.2_Missense_Mutation_p.D186N|AOC1_ENST00000360937.4_Missense_Mutation_p.D186N|AOC1_ENST00000467291.1_Missense_Mutation_p.D186N amine oxidase, copper containing 1 p.D186N(1) GGCCTTCACCGATGTGGCCCC 0.587000 9 78 0 0 0.004482 0 0 MAP3K19 80122 broad.mit.edu 37 2 135743788 135743788 + Missense_Mutation SNP C C A rs140658941 byFrequency TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr2:135743788C>A ENST00000375845.3 - 7 2684 c.2654G>T c.(2653-2655)cGa>cTa p.R885L MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R772L|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R902L|MAP3K19_ENST00000392917.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 p.R885Q(1)|p.R237L(1)|p.R885L(1)|p.R237Q(1) AGTTAAAATTCGGCTGGCATT 0.378000 11 66 9.70103e-10 1.66303e-09 0.008291 1 0 PSG3 5671 broad.mit.edu 37 19 43237124 43237124 + Missense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr19:43237124G>A ENST00000327495.5 - 3 705 c.521C>T c.(520-522)cCg>cTg p.P174L PSG3_ENST00000595140.1_Missense_Mutation_p.P174L NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 174 Ig-like C2-type 1. defense response|female pregnancy extracellular region p.P174L(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GCTTGCGTCCGGAGTCTCAGG 0.522000 12 277 0 0 0.001855 0 0 TMEM132D 121256 broad.mit.edu 37 12 129563125 129563125 + Missense_Mutation SNP A A G TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr12:129563125A>G ENST00000422113.2 - 8 2395 c.2069T>C c.(2068-2070)aTc>aCc p.I690T TMEM132D_ENST00000389441.4_Missense_Mutation_p.I228T NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 690 integral to membrane p.I690T(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AGTGGCAAAGATGGCCCTGTT 0.577000 5 109 0 0 0.001168 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 5 50 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179537132 179537132 + Splice_Site SNP A A G TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr2:179537132A>G ENST00000589042.1 - 154 35155 c.e154+1 TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.?(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCCAAAAATACCTTTAGCTG 0.328000 10 264 0 0 0.006214 0 0 DMRT2 10655 broad.mit.edu 37 9 1051731 1051731 + Missense_Mutation SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr9:1051731C>T ENST00000259622.6 + 1 118 c.118C>T c.(118-120)Ccg>Tcg p.P40S DMRT2_ENST00000358146.2_Missense_Mutation_p.P40S|DMRT2_ENST00000302441.6_Missense_Mutation_p.P40S|DMRT2_ENST00000412350.2_Missense_Mutation_p.P40S|DMRT2_ENST00000382251.3_Missense_Mutation_p.P40S|DMRT2_ENST00000382255.3_Missense_Mutation_p.P40S Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 2 40 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity p.P40S(2) large_intestine(1)|lung(1)|prostate(2) 4 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) gcccagcccgccgccggcgga 0.746000 3 7 0 0 0.004672 0 0 ANKRD28 23243 broad.mit.edu 37 3 15727591 15727591 + Missense_Mutation SNP G G C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr3:15727591G>C ENST00000399451.2 - 20 2364 c.1997C>G c.(1996-1998)aCa>aGa p.T666R ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.T699R NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 666 nucleoplasm protein binding p.T133R(1)|p.T699R(1) breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 AACACAGTCTGTGTGCCCGTT 0.458000 4 22 0 0 0.000248 0 0 HSPBP1 23640 broad.mit.edu 37 19 55789207 55789207 + Missense_Mutation SNP T T C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr19:55789207T>C ENST00000255631.5 - 4 528 c.218A>G c.(217-219)cAg>cGg p.Q73R HSPBP1_ENST00000587922.1_Missense_Mutation_p.Q73R|HSPBP1_ENST00000433386.2_Missense_Mutation_p.Q73R|HSPBP1_ENST00000376343.3_Missense_Mutation_p.Q73R NM_001130106.1|NM_012267.4 NP_001123578.1|NP_036399.3 Q9NZL4 HPBP1_HUMAN HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 76 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding enzyme inhibitor activity|protein binding p.Q73R(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 8 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CTGCAGCCACTGACGCCTCTG 0.577000 7 21 0 0 0.003080 0 0 ENOX1 55068 broad.mit.edu 37 13 43872565 43872565 + Nonsense_Mutation SNP C C A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr13:43872565C>A ENST00000261488.6 - 12 1940 c.1363G>T c.(1363-1365)Gaa>Taa p.E455* ENOX1_ENST00000412891.1_Nonsense_Mutation_p.E455* NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 455 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity p.E455*(2) breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) AAAAGCTGTTCTTTTTCTTGT 0.527000 38 103 1.03484e-13 1.79972e-13 0.005524 1 0 BAI3 577 broad.mit.edu 37 6 69758171 69758171 + Silent SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr6:69758171C>T ENST00000370598.1 + 14 3023 c.2202C>T c.(2200-2202)aaC>aaT p.N734N NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 734 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.N734N(2) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GGGCAAGAAACTCAGAAGATA 0.383000 9 52 0 0 0.006214 0 0 FRG1B 0 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 6 113 0 0 0.003080 0 0 AGPAT2 10555 broad.mit.edu 37 9 139581703 139581703 + Missense_Mutation SNP A A T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr9:139581703A>T ENST00000371696.2 - 1 172 c.107T>A c.(106-108)cTg>cAg p.L36Q AGPAT2_ENST00000538402.1_Missense_Mutation_p.L36Q|AGPAT2_ENST00000371694.3_Missense_Mutation_p.L36Q NM_006412.3 NP_006403.2 O15120 PLCB_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 2 36 phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity p.L36Q(1) endometrium(1)|large_intestine(1)|lung(2)|prostate(2) 6 all_cancers(76;0.0893)|all_epithelial(76;0.231) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) CGTGAAGCACAGCGCGCAGTA 0.726000 5 34 0 0 0.001168 0 0 CEP128 145508 broad.mit.edu 37 14 81251838 81251838 + Nonsense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr14:81251838G>A ENST00000555265.1 - 15 1987 c.1612C>T c.(1612-1614)Caa>Taa p.Q538* CEP128_ENST00000281129.3_Nonsense_Mutation_p.Q538* Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 538 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 TTCTCTATTTGTTGTAATGCT 0.353000 11 22 0 0 0.000978 0 0 FAM78B 149297 broad.mit.edu 37 1 166039642 166039642 + Missense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:166039642G>A ENST00000338353.3 - 3 1211 c.622C>T c.(622-624)Cgg>Tgg p.R208W FAM78B_ENST00000354422.3_Missense_Mutation_p.R208W Q5VT40 FA78B_HUMAN family with sequence similarity 78, member B 208 p.R208W(2) central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) AGCCGGGCCCGCTGCCCCAAG 0.582000 24 62 0 0 0.002780 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271452 26271452 + Missense_Mutation SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr6:26271452C>T ENST00000305910.3 - 1 160 c.161G>A c.(160-162)cGc>cAc p.R54H NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 54 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding p.R54H(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 CTTCTGATAGCGGCGAATCTC 0.607000 7 105 0 0 0.001984 0 0 COMMD4 54939 broad.mit.edu 37 15 75631620 75631620 + Missense_Mutation SNP T T C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr15:75631620T>C ENST00000267935.8 + 6 516 c.317T>C c.(316-318)cTg>cCg p.L106P COMMD4_ENST00000564815.1_Missense_Mutation_p.L84P|COMMD4_ENST00000562789.1_Missense_Mutation_p.L112P|COMMD4_ENST00000338995.6_Missense_Mutation_p.L106P|COMMD4_ENST00000567195.1_Intron NM_017828.3 NP_060298.2 Q9H0A8 COMD4_HUMAN COMM domain containing 4 106 cytoplasm protein binding p.L106P(3) breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 10 GCGGCCAGCCTGTGCCGCTGT 0.622000 3 45 0 0 0.004672 0 0 CCDC93 54520 broad.mit.edu 37 2 118715997 118715997 + Missense_Mutation SNP G G C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr2:118715997G>C ENST00000376300.2 - 12 1086 c.949C>G c.(949-951)Cgg>Ggg p.R317G CCDC93_ENST00000319432.5_Missense_Mutation_p.R316G|CCDC93_ENST00000460781.1_5'UTR NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 317 p.R317G(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 ATGACTTTCCGGCGATGTAGC 0.398000 14 42 0 0 0.002450 0 0 TBX5 6910 broad.mit.edu 37 12 114793645 114793645 + Missense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr12:114793645G>A ENST00000310346.4 - 9 1915 c.1249C>T c.(1249-1251)Ccc>Tcc p.P417S TBX5_ENST00000349716.5_Missense_Mutation_p.P367S|TBX5_ENST00000405440.2_Missense_Mutation_p.P417S NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 417 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.P417S(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CTGTCCATGGGCTGCACGGTG 0.657000 11 46 0 0 0.000978 0 0 FMO1 2326 broad.mit.edu 37 1 171250000 171250000 + Missense_Mutation SNP T T C rs148980563 byFrequency TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr1:171250000T>C ENST00000354841.4 + 5 834 c.703T>C c.(703-705)Ttc>Ctc p.F235L FMO1_ENST00000367750.3_Missense_Mutation_p.F235L|FMO1_ENST00000402921.2_Missense_Mutation_p.F172L|FMO1_ENST00000469112.1_3'UTR Q01740 FMO1_HUMAN flavin containing monooxygenase 1 235 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding p.F235L(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGACATGGTGTTCATGACACG 0.493000 18 61 0 0 0.004990 0 0 SYTL2 54843 broad.mit.edu 37 11 85459457 85459457 + Silent SNP A A T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr11:85459457A>T ENST00000316356.4 - 3 675 c.111T>A c.(109-111)ccT>ccA p.P37P SYTL2_ENST00000527523.1_5'UTR|SYTL2_ENST00000524452.1_Silent_p.P37P|SYTL2_ENST00000389960.4_Silent_p.P37P|SYTL2_ENST00000528231.1_Silent_p.P37P Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 37 RabBD. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding p.P37P(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TAATTTTTTCAGGCAAATGTC 0.393000 5 78 0 0 0.000602 0 0 MAP2K6 5608 broad.mit.edu 37 17 67513026 67513026 + Silent SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr17:67513026C>T ENST00000590474.1 + 3 401 c.114C>T c.(112-114)tgC>tgT p.C38C MAP2K6_ENST00000589647.1_5'UTR NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 38 activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.C38C(1) central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) CCAAGGCTTGCATTTCTATTG 0.363000 5 106 0 0 0.000602 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 4 45 0 0 0.003080 0 0 TBCK 93627 broad.mit.edu 37 4 107216263 107216263 + Missense_Mutation SNP C C G TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr4:107216263C>G ENST00000273980.4 - 4 701 c.254G>C c.(253-255)aGg>aCg p.R85T TBCK_ENST00000394706.3_Missense_Mutation_p.R85T|TBCK_ENST00000394708.2_Missense_Mutation_p.R85T|TBCK_ENST00000361687.4_Missense_Mutation_p.R85T|TBCK_ENST00000432496.2_Missense_Mutation_p.R85T Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 85 Protein kinase. intracellular Rab GTPase activator activity p.R85T(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 CACAGGTTTCCTTTCTCGAAG 0.378000 36 137 0 0 0.008740 0 0 RBM27 54439 broad.mit.edu 37 5 145641192 145641192 + Nonsense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr5:145641192G>A ENST00000265271.5 + 13 2179 c.2013G>A c.(2011-2013)tgG>tgA p.W671* RBM27_ENST00000506502.1_Nonsense_Mutation_p.W616* NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 671 RRM. mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.W671*(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGTCTTGTGGCATAGGGAAA 0.478000 5 158 0 0 0.000602 0 0 JAK1 3716 broad.mit.edu 37 1 65300335 65300335 + Nonsense_Mutation SNP A A C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr1:65300335A>C ENST00000342505.4 - 25 3623 c.3375T>G c.(3373-3375)taT>taG p.Y1125* NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 1125 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.Y1125*(1) breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCATAAGTTGATAAACCTGTA 0.303000 Mis ALL 3 66 0 0 0.004672 0 0 MAP2K6 5608 broad.mit.edu 37 17 67513026 67513026 + Silent SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr17:67513026C>T ENST00000590474.1 + 3 401 c.114C>T c.(112-114)tgC>tgT p.C38C MAP2K6_ENST00000589647.1_5'UTR NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 38 activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.C38C(1) central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) CCAAGGCTTGCATTTCTATTG 0.363000 5 106 0 0 0.014758 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271452 26271452 + Missense_Mutation SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr6:26271452C>T ENST00000305910.3 - 1 160 c.161G>A c.(160-162)cGc>cAc p.R54H NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 54 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding p.R54H(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 CTTCTGATAGCGGCGAATCTC 0.607000 7 105 0 0 0.001984 0 0 PRKCB 5579 broad.mit.edu 37 16 24104205 24104205 + Missense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr16:24104205G>A ENST00000303531.7 + 6 775 c.623G>A c.(622-624)aGc>aAc p.S208N PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000321728.7_Missense_Mutation_p.S208N NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 208 C2. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding p.S208N(3) central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AAAAGTGAGAGCAAACAGAAG 0.443000 9 104 0 0 0.008291 0 0 CCDC93 54520 broad.mit.edu 37 2 118715997 118715997 + Missense_Mutation SNP G G C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr2:118715997G>C ENST00000376300.2 - 12 1086 c.949C>G c.(949-951)Cgg>Ggg p.R317G CCDC93_ENST00000319432.5_Missense_Mutation_p.R316G|CCDC93_ENST00000460781.1_5'UTR NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 317 p.R317G(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 ATGACTTTCCGGCGATGTAGC 0.398000 14 42 0 0 0.020292 0 0 SYTL2 54843 broad.mit.edu 37 11 85459457 85459457 + Silent SNP A A T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr11:85459457A>T ENST00000316356.4 - 3 675 c.111T>A c.(109-111)ccT>ccA p.P37P SYTL2_ENST00000524452.1_Silent_p.P37P|SYTL2_ENST00000528231.1_Silent_p.P37P|SYTL2_ENST00000527523.1_5'UTR|SYTL2_ENST00000389960.4_Silent_p.P37P Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 37 RabBD. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding p.P37P(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TAATTTTTTCAGGCAAATGTC 0.393000 5 78 0 0 0.014758 0 0 BAGE2 85319 broad.mit.edu 37 21 11058322 11058322 + RNA SNP C C T TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr21:11058322C>T ENST00000470054.1 - 0 325 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAATGCACATCGCTGAAAGGG 0.383000 10 184 0 0 0.008291 0 0 CEP290 80184 broad.mit.edu 37 12 88514920 88514920 + Missense_Mutation SNP T T C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr12:88514920T>C ENST00000552810.1 - 14 1556 c.1213A>G c.(1213-1215)Act>Gct p.T405A CEP290_ENST00000309041.7_Missense_Mutation_p.T405A|CEP290_ENST00000397838.3_5'UTR NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 405 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding p.T405A(2) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TTCATATGAGTCTGTTGAGAA 0.383000 3 43 0 0 0.004672 0 0 C19orf26 255057 broad.mit.edu 37 19 1233530 1233530 + Missense_Mutation SNP T T G TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr19:1233530T>G ENST00000590083.1 - 8 1166 c.874A>C c.(874-876)Acc>Ccc p.T292P C19orf26_ENST00000382477.2_Missense_Mutation_p.T312P|C19orf26_ENST00000215376.6_Missense_Mutation_p.T286P Q8N350 DOS_HUMAN chromosome 19 open reading frame 26 312 integral to membrane p.T286P(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) CGCAGGCGGGTGAGGAACTGC 0.697000 HNSCC(14;0.022) 3 20 0 0 0.003080 0 0 JAK1 3716 broad.mit.edu 37 1 65301865 65301865 + Missense_Mutation SNP A A C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr1:65301865A>C ENST00000342505.4 - 23 3422 c.3174T>G c.(3172-3174)ttT>ttG p.F1058L NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 1058 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.F1058L(1) breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) AGGCAATATAAAATTTAGATT 0.423000 Mis ALL 3 35 0 0 0.004672 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 2 3 0 0 0.004672 0 0 WWC2 80014 broad.mit.edu 37 4 184182184 184182184 + Missense_Mutation SNP T T C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr4:184182184T>C ENST00000403733.3 + 11 1607 c.1408T>C c.(1408-1410)Tat>Cat p.Y470H WWC2_ENST00000513834.1_Missense_Mutation_p.Y470H|WWC2_ENST00000448232.2_Missense_Mutation_p.Y470H|WWC2_ENST00000504005.1_Missense_Mutation_p.Y152H|WWC2_ENST00000378925.3_Missense_Mutation_p.Y372H NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 470 Ser-rich. p.Y470H(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) CACCGAACTCTATTACAGCAG 0.502000 3 55 0 0 0.004672 0 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 6 114 0 0 0.021553 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 79 0 0 0.021553 0 0 ACACB 32 broad.mit.edu 37 12 109639448 109639448 + Missense_Mutation SNP T T A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr12:109639448T>A ENST00000338432.7 + 19 2974 c.2855T>A c.(2854-2856)cTg>cAg p.L952Q ACACB_ENST00000377848.3_Missense_Mutation_p.L952Q|ACACB_ENST00000377854.5_Missense_Mutation_p.L952Q O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 952 Biotinyl-binding. 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.L952Q(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) GGTGCCGTGCTGGAAGCAGGC 0.552000 7 79 0 0 0.003080 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 9 63 0 0 0.006214 0 0 AHCTF1 25909 broad.mit.edu 37 1 247014376 247014376 + Silent SNP G G C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr1:247014376G>C ENST00000366508.1 - 33 5173 c.5037C>G c.(5035-5037)gcC>gcG p.A1679A AHCTF1_ENST00000326225.3_Silent_p.A1653A|AHCTF1_ENST00000391829.2_Silent_p.A1644A|AHCTF1_ENST00000470300.1_5'UTR Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1644 Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding p.A1644A(1)|p.A1653A(1) NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CACTAGTTACGGCAGATGGCA 0.363000 7 164 0 0 0.001984 0 0 FLII 2314 broad.mit.edu 37 17 18151872 18151872 + Missense_Mutation SNP G G C TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr17:18151872G>C ENST00000327031.4 - 18 2407 c.2182C>G c.(2182-2184)Ctg>Gtg p.L728V FLII_ENST00000579294.1_Missense_Mutation_p.L717V|FLII_ENST00000379450.4_Missense_Mutation_p.L642V|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.L673V NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 728 Interaction with ACTL6A. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding p.L728V(1) central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) ACCTTGTACAGCTTGGGCTGC 0.622000 OREG0024225 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 61 0 0 0.001984 0 0 RBM27 54439 broad.mit.edu 37 5 145641192 145641192 + Nonsense_Mutation SNP G G A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr5:145641192G>A ENST00000265271.5 + 13 2179 c.2013G>A c.(2011-2013)tgG>tgA p.W671* RBM27_ENST00000506502.1_Nonsense_Mutation_p.W616* NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 671 RRM. mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.W671*(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGTCTTGTGGCATAGGGAAA 0.478000 5 158 0 0 0.014758 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 6 101 0 0 0.006214 0 0 OR5H14 403273 broad.mit.edu 37 3 97868429 97868429 + Frame_Shift_Del DEL C C - TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr3:97868429delC ENST00000437310.1 + 1 260 c.200delC c.(199-201)gtfs p.A67fs NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 GGGAATTTAGCTTTTGTGGAT 0.398 10 296 --- --- --- --- MTUS1 57509 broad.mit.edu 37 8 17613213 17613215 + In_Frame_Del DEL GGT GGT - TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr8:17613213_17613215delGGT ENST00000381869.3 - 2 575_577 c.102_104delACC c.(100-105)cct>cc p.PP34del MTUS1_ENST00000262102.6_In_Frame_Del_p.PP34del|MTUS1_ENST00000381862.3_In_Frame_Del_p.PP34del|MTUS1_ENST00000519263.1_In_Frame_Del_p.PP34del NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 34 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) GTTTTGTGTAGGTGGTGATTTCG 0.399 10 158 --- --- --- --- NANOS1 340719 broad.mit.edu 37 10 120789635 120789637 + In_Frame_Del DEL GAC GAC - TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr10:120789635_120789637delGAC ENST00000425699.1 + 1 408_410 c.322_324delGAC c.(322-324)del p.D112del NM_199461.2 NP_955631.1 Q8WY41 NANO1_HUMAN nanos homolog 1 (Drosophila) 112 epithelial cell migration perinuclear region of cytoplasm protein binding|RNA binding|translation repressor activity|zinc ion binding lung(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0193) ctacgacgaggacgacgacgacg 0.788 2 4 --- --- --- --- POC1B-GALNT4 0 broad.mit.edu 37 12 89919737 89919737 + Frame_Shift_Del DEL G G - TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr12:89919737delG ENST00000413530.1 - 1 302 c.196delC c.(196-198)atfs p.H66fs POC1B_ENST00000313546.3_5'UTR|POC1B-GALNT4_ENST00000548729.1_5'UTR|POC1B_ENST00000541909.1_5'UTR|POC1B-GALNT4_ENST00000547474.1_5'UTR|RP11-734K2.4_ENST00000605233.1_RNA gggagaggatggggaaggaga 0.701 2 4 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93720048 93720048 + Frame_Shift_Del DEL T T - TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr14:93720048delT ENST00000334746.5 - 7 2004 c.1697delA c.(1696-1698)atfs p.N566fs BTBD7_ENST00000554565.1_Frame_Shift_Del_p.N215fs|BTBD7_ENST00000393170.2_Frame_Shift_Del_p.N140fs NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 566 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GATGCCAGCATTTTTTTGCCG 0.388 7 193 --- --- --- --- HEXIM1 10614 broad.mit.edu 37 17 43227525 43227526 + In_Frame_Ins INS - - GGAGCT TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr17:43227525_43227526insGGAGCT ENST00000332499.2 + 1 2842_2843 c.968_969insGGAGCT c.(967-969)cga>cGGAGCTga p.323_324insS* NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 323 Required for inhibition of ESR1-dependent transcription. negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GCGCGTGTGCGGGAGCTGGAGC 0.668 17 112 --- --- --- --- CLASRP 11129 broad.mit.edu 37 19 45567373 45567375 + In_Frame_Del DEL GAG GAG - TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f d0674198-9352-413f-98ab-cce0fa8b47f6 g.chr19:45567373_45567375delGAG ENST00000544944.2 + 11 1701_1703 c.1009_1011delGAG c.(1009-1011)del p.E338del CLASRP_ENST00000391953.4_In_Frame_Del_p.E276del|CLASRP_ENST00000221455.3_In_Frame_Del_p.E338del Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 338 mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 GGGCAGCGATGAGGAGGCAGCCG 0.704 7 35 --- --- --- --- OR5H14 403273 broad.mit.edu 37 3 97868429 97868429 + Frame_Shift_Del DEL C C - TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr3:97868429delC ENST00000437310.1 + 1 260 c.200delC c.(199-201)gtfs p.A67fs NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 GGGAATTTAGCTTTTGTGGAT 0.398 10 296 --- --- --- --- MYO6 4646 broad.mit.edu 37 6 76599857 76599858 + Frame_Shift_Ins INS - - A TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr6:76599857_76599858insA ENST00000369981.3 + 26 3021_3022 c.2742_2743insA c.(2740-2745)caaaaafs p.QK914fs MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs Q9UM54 MYO6_HUMAN myosin VI 914 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding p.K917fs*10(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTGCATTACAGAAAAAAAAACA 0.381 8 93 --- --- --- --- STEAP2-AS1 0 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA GGTGCGGGCCTCCCCCTTCCCC 0.639 3 3 --- --- --- --- PCSK5 5125 broad.mit.edu 37 9 78790207 78790208 + Frame_Shift_Ins INS - - GAATA rs55947300 TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr9:78790207_78790208insGAATA ENST00000376767.3 + 14 2574_2575 c.2062_2063insGAATA c.(2062-2064)aatfs p.N688fs PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 cgaatcgaatcgaatagaatag 0.342 2 4 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-G9-6363-01A-21D-1786-08 TCGA-G9-6363-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78cd4d11-912a-4d29-b702-b04b9ad5528f f9a7117d-d13d-40bb-9c4f-1e0105ba1928 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 5 9 --- --- --- ---