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 PDE1B 5153 broad.mit.edu 37 12 54963377 54963377 + Missense_Mutation SNP C C T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr12:54963377C>T ENST00000243052.3 + 5 894 c.458C>T c.(457-459)gCg>gTg p.A153V PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.A133V|PDE1B_ENST00000538346.1_Missense_Mutation_p.A112V NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 153 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TACTCTACTGCGGTTCTCAAC 0.488000 4 110 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160999682 160999682 + Silent SNP A A G TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr6:160999682A>G ENST00000447678.1 - 28 4464 c.4344T>C c.(4342-4344)tgT>tgC p.C1448C LPA_ENST00000316300.5_Silent_p.C1448C NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3956 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CCATGGTGTAACACCAAGGGC 0.517000 6 44 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47402419 47402419 + Nonsense_Mutation SNP G G A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr1:47402419G>A ENST00000310638.4 - 4 458 c.427C>T c.(427-429)Cga>Tga p.R143* CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Nonsense_Mutation_p.R39*|CYP4A11_ENST00000371904.4_Nonsense_Mutation_p.R143*|CYP4A11_ENST00000371905.1_Nonsense_Mutation_p.R143* NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 143 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) AGCATCCGTCGATGCTGGAAC 0.527000 13 3 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32932862 32932862 + Silent SNP C C T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr3:32932862C>T ENST00000383763.4 + 4 2229 c.2166C>T c.(2164-2166)caC>caT p.H722H NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 722 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CGAGGAACCACCGGATCCAGC 0.542000 12 4 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 5 50 0 0 1 0 0 SEH1L 81929 broad.mit.edu 37 18 12971218 12971218 + Missense_Mutation SNP G G T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr18:12971218G>T ENST00000262124.11 + 5 715 c.588G>T c.(586-588)aaG>aaT p.K196N SEH1L_ENST00000399892.2_Missense_Mutation_p.K196N NM_031216.3 NP_112493.2 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 196 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CAATGGCCAAGGTTCAGATTT 0.373000 22 32 9.57634e-11 1.03424e-10 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 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 3 18 0 0 1 0 0 ZNF503 84858 broad.mit.edu 37 10 77158808 77158808 + Missense_Mutation SNP C C T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr10:77158808C>T ENST00000372524.4 - 2 2126 c.1640G>A c.(1639-1641)gGg>gAg p.G547E ZNF503_ENST00000535216.1_Missense_Mutation_p.G547E|RP11-399K21.11_ENST00000418818.2_lincRNA NM_032772.4 NP_116161.2 Q96F45 ZN503_HUMAN zinc finger protein 503 547 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding lung(4)|ovary(1)|skin(1) 6 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) TTTGTCTGTCCCGGGAAATGC 0.662000 17 17 0 0 1 0 0 RNF149 284996 broad.mit.edu 37 2 101898392 101898392 + Missense_Mutation SNP G G A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr2:101898392G>A ENST00000295317.3 - 6 1195 c.1088C>T c.(1087-1089)tCc>tTc p.S363F NM_173647.3 NP_775918.2 Q8NC42 RN149_HUMAN ring finger protein 149 363 integral to membrane ligase activity|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 TTCAGCAGGGGAGGCTGATGG 0.483000 41 52 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 74005476 74005476 + Missense_Mutation SNP T T C TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr4:74005476T>C ENST00000358602.4 - 15 2973 c.2857A>G c.(2857-2859)Atc>Gtc p.I953V ANKRD17_ENST00000509867.2_Missense_Mutation_p.I840V|ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000514252.1_5'UTR NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 953 Gln-rich. interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGAGGCTGGATTGGCGCAAAA 0.532000 37 27 0 0 1 0 0 ADAT1 23536 broad.mit.edu 37 16 75646709 75646709 + Missense_Mutation SNP A A T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr16:75646709A>T ENST00000307921.3 - 7 620 c.475T>A c.(475-477)Tgt>Agt p.C159S NM_012091.3 NP_036223.2 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 159 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1) 19 AAGACAGGACAGCAAGGCTGA 0.478000 29 38 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109192840 109192840 + Missense_Mutation SNP T T C rs144199955 by1000genomes TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr12:109192840T>C ENST00000326495.5 - 13 1378 c.1285A>G c.(1285-1287)Atc>Gtc p.I429V SSH1_ENST00000360239.3_Missense_Mutation_p.I117V|SSH1_ENST00000326470.5_Missense_Mutation_p.I440V|SSH1_ENST00000551165.1_Missense_Mutation_p.I429V NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 429 Tyrosine-protein phosphatase. actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGGCGCGTGATGCTGCGCTTC 0.562000 28 27 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57868688 57868688 + Missense_Mutation SNP G G A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr12:57868688G>A ENST00000393797.2 - 16 2083 c.1891C>T c.(1891-1893)Cgg>Tgg p.R631W ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R560W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R541W|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R620W|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R357W|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R541W Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 560 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) ATGCAGAGCCGCAAAAAGCTG 0.547000 3 44 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 4 124 0 0 1 0 0 ALDH1A3 220 broad.mit.edu 37 15 101440899 101440899 + Missense_Mutation SNP G G A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr15:101440899G>A ENST00000329841.5 + 9 1535 c.1003G>A c.(1003-1005)Gtg>Atg p.V335M RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.V228M NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 335 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) CAGGCGGAGCGTGGAGTATGC 0.572000 9 22 0 0 1 0 0 TM7SF3 51768 broad.mit.edu 37 12 27129269 27129269 + Missense_Mutation SNP T T C TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr12:27129269T>C ENST00000343028.4 - 10 1436 c.1211A>G c.(1210-1212)gAt>gGt p.D404G RP11-421F16.3_ENST00000500632.1_RNA NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 404 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) TACACCATCATCATGAAAAAT 0.363000 7 22 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105924111 105924111 + Silent SNP T T A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr2:105924111T>A ENST00000393359.2 - 2 1074 c.648A>T c.(646-648)atA>atT p.I216I TGFBRAP1_ENST00000258449.1_Silent_p.I216I Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 216 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 CCTGTCTCCCTATCCTCTTGA 0.587000 6 149 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50461638 50461638 + Missense_Mutation SNP A A G TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr19:50461638A>G ENST00000447370.2 - 8 1643 c.1553T>C c.(1552-1554)cTg>cCg p.L518P CTC-326K19.6_ENST00000451973.1_Missense_Mutation_p.L4P|SIGLEC11_ENST00000426971.2_Intron NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 518 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) ATGGAGGCTCAGGGAGCTGTT 0.677000 3 28 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25466996 25466996 + Missense_Mutation SNP G G T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr13:25466996G>T ENST00000381884.4 - 10 3186 c.3001C>A c.(3001-3003)Cag>Aag p.Q1001K CENPJ_ENST00000545981.1_Missense_Mutation_p.Q1001K NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 1001 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) GCTATTTGCTGTTTTAAAGTC 0.333000 7 56 7.48243e-07 7.48243e-07 1 1 0 TTLL6 284076 broad.mit.edu 37 17 46847140 46847140 + Missense_Mutation SNP G G A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr17:46847140G>A ENST00000393382.3 - 14 2501 c.2360C>T c.(2359-2361)tCc>tTc p.S787F TTLL6_ENST00000433608.2_Missense_Mutation_p.S480F NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 739 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 TGGGAAGAAGGAGAGCTTCCC 0.507000 25 35 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155200763 155200763 + Missense_Mutation SNP A A T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr3:155200763A>T ENST00000460012.1 - 23 3319 c.2962T>A c.(2962-2964)Tca>Aca p.S988T PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.S988T|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1026T|PLCH1_ENST00000334686.6_Missense_Mutation_p.S988T|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1026 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GAGGAGGATGATAACTTTTTG 0.418000 33 7 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43617416 43617416 + Missense_Mutation SNP T T C rs74799832 TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr10:43617416T>C ENST00000355710.3 + 16 2985 c.2753T>C c.(2752-2754)aTg>aCg p.M918T RET_ENST00000340058.5_Missense_Mutation_p.M918T NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 918 Protein kinase. M -> T (in RADYS, MEN2B and MTC; sporadic form; somatic mutation). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity p.M918T(247) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GTTAAATGGATGGCAATTGAA 0.443000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 48 76 0 0 1 0 0 ARL6IP4 51329 broad.mit.edu 37 12 123466570 123466570 + Missense_Mutation SNP C C T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr12:123466570C>T ENST00000315580.5 + 4 1233 c.905C>T c.(904-906)gCc>gTc p.A302V RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000543566.1_Missense_Mutation_p.A283V|ARL6IP4_ENST00000454885.2_Missense_Mutation_p.A168V|ARL6IP4_ENST00000412505.2_Intron|ARL6IP4_ENST00000439686.2_Missense_Mutation_p.A171V|ARL6IP4_ENST00000357866.4_Intron|ARL6IP4_ENST00000453766.2_Missense_Mutation_p.A294V|ARL6IP4_ENST00000392435.2_Missense_Mutation_p.A283V|ARL6IP4_ENST00000426960.2_Missense_Mutation_p.A160V Q66PJ3 AR6P4_HUMAN ADP-ribosylation-like factor 6 interacting protein 4 302 RNA splicing nucleus all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107) GAGTGGGATGCCCGGCAGAGC 0.622000 3 29 0 0 1 0 0 FAM72B 653820 broad.mit.edu 37 1 120854564 120854564 + Nonsense_Mutation SNP C C A TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr1:120854564C>A ENST00000369390.3 + 4 1257 c.428C>A c.(427-429)tCa>tAa p.S143* FAM72B_ENST00000355228.4_Nonsense_Mutation_p.S103*|FAM72B_ENST00000471903.2_3'UTR NM_001100910.1 NP_001094380.1 Q86X60 FA72B_HUMAN family with sequence similarity 72, member B 143 large_intestine(1)|lung(2) 3 all_neural(166;0.181) all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068) Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19) TTAAATATCTCAGCAGAGGAG 0.269000 21 3 4.59853e-10 4.77539e-10 1 1 0 PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 2 4 --- --- --- --- CYP4Z2P 163720 broad.mit.edu 37 1 47310359 47310360 + RNA INS - - T TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr1:47310359_47310360insT ENST00000505841.1 - 0 1269 NR_002788.2 CAAAAACAAAACCCTAGATATT 0.421 3 6 --- --- --- --- OBSCN 84033 broad.mit.edu 37 1 228540722 228540722 + Frame_Shift_Del DEL A A - TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr1:228540722delA ENST00000570156.2 + 90 21565 c.21491delA c.(21490-21492)cgfs p.Q7164fs OBSCN_ENST00000284548.11_Frame_Shift_Del_p.Q6207fs|OBSCN_ENST00000422127.1_Frame_Shift_Del_p.Q6207fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.Q3841fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.Q3326fs NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6207 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGCAGGCCCAGGAGCAGTGT 0.697 2 4 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100261040 100261041 + RNA INS - - A rs138827617 by1000genomes TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr4:100261040_100261041insA ENST00000515683.1 - 0 1316 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AGTGCTTTCACAAAAAAAATCA 0.327 4 4 --- --- --- --- PROSER2 254427 broad.mit.edu 37 10 11911789 11911789 + Frame_Shift_Del DEL G G - TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr10:11911789delG ENST00000277570.5 + 4 846 c.692delG c.(691-693)cgfs p.R231fs PROSER2_ENST00000379200.1_Frame_Shift_Del_p.R35fs|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA NM_153256.3 NP_694988.3 proline and serine-rich protein 2 CCTGCCGCCCGGGGGCCCCGC 0.736 2 4 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13174141 13174142 + RNA INS - - AACAACAAC rs112328257 by1000genomes TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr12:13174141_13174142insAACAACAAC ENST00000543321.1 + 0 1025 tctgtctcaaaaacaacaacaa 0.550 3 6 --- --- --- --- ADSSL1 122622 broad.mit.edu 37 14 105190771 105190771 + Frame_Shift_Del DEL C C - TCGA-WB-A80V-01A-12D-A35I-08 TCGA-WB-A80V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 152e6802-b426-4015-93e1-23526d5250c5 8c1aa1d7-058f-4953-9448-d33817d21499 g.chr14:105190771delC ENST00000330877.2 + 1 249 c.164delC c.(163-165)agfs p.T55fs NM_152328.3 NP_689541.1 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 55 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) CTGCTGGCCACGGACGCCGAC 0.766 2 4 --- --- --- ---